# RGD-PIPELINE: ftp-file-extracts # MODULE: genes-version-2.1.2.5 # GENERATED-ON: 2013/08/16 # PURPOSE: information about active Human genes extracted from RGD database # CONTACT: rgd.data@mcw.edu # FORMAT: tab delimited text # NOTES: multiple values in a single column are separated by ';' # ### As of Apr 1, 2011 RATMAP_IDs and RHDB_IDs are discontinued. ### As of Apr 15, 2011 GENE_REFSEQ_STATUS column is provided. ### As of Jul 1, 2011 fixed generation of CURATED_REF_PUBMED_IDs and UNCURATED_PUBMED_IDs ### As of Nov 23, 2011 ver 2.1.2: no format changes (UniGene Ids are extracted from db in different way). ### As of Dec 19, 2011 ver 2.1.2.1: no format changes (fixed documentation in header to be consistent with column names). ### As of May 31, 2012 ver 2.1.2.2: no format changes (improved generation speed). ### As of July 6, 2012 ver 2.1.2.3: no format changes (added generation of file GENES_RAT_5.0). ### As of Oct 23, 2012 ver 2.1.2.4: obsoleted column 23 'UNCURATED_REF_MEDLINE_ID' - changed to '(UNUSED)'. ### As of Dec 17, 2012 ver 2.1.2.5: no format changes. # #COLUMN INFORMATION: # (First 38 columns are in common between rat, mouse and human) # #1 GENE_RGD_ID the RGD_ID of the gene #2 SYMBOL official gene symbol #3 NAME gene name #4 GENE_DESC gene description (if available) #5 CHROMOSOME_CELERA chromosome for Celera assembly #6 CHROMOSOME_36 chromosome for the old reference assembly build 36 #7 CHROMOSOME_37 chromosome for the current reference assembly build 37 #8 FISH_BAND fish band information #9 START_POS_CELERA start position for Celera assembly #10 STOP_POS_CELERA stop position for Celera assembly #11 STRAND_CELERA strand information for Celera assembly #12 START_POS_36 start position for old reference assembly build 36 #13 STOP_POS_36 stop position for old reference assembly build 36 #14 STRAND_36 strand information for old reference assembly build 36 #15 START_POS_37 start position for current reference assembly build 37 #16 STOP_POS_37 stop position for current reference assembly build 37 #17 STRAND_37 strand information for current reference assembly build 37 #18 CURATED_REF_RGD_ID RGD_ID of paper(s) used to curate gene #19 CURATED_REF_PUBMED_ID PUBMED_ID of paper(s) used to curate gene #20 UNCURATED_PUBMED_ID PUBMED ids of papers associated with the gene at NCBI but not used for curation #21 ENTREZ_GENE EntrezGene id #22 UNIPROT_ID UniProtKB id(s) #23 (UNUSED) blank #24 GENBANK_NUCLEOTIDE GenBank Nucleotide ID(s) #25 TIGR_ID TIGR ID(s) #26 GENBANK_PROTEIN GenBank Protein ID(s) #27 UNIGENE_ID UniGene ID(s) #28 SSLP_RGD_ID RGD_ID(s) of SSLPS associated with given gene #29 SSLP_SYMBOL SSLP symbol #30 OLD_SYMBOL old symbol alias(es) #31 OLD_NAME old name alias(es) #32 QTL_RGD_ID RGD_ID(s) of QTLs associated with given gene #33 QTL_SYMBOL QTL symbol #34 NOMENCLATURE_STATUS nomenclature status #35 SPLICE_RGD_ID RGD_IDs for gene splices #36 SPLICE_SYMBOL symbol for gene #37 GENE_TYPE gene type #38 ENSEMBL_ID Ensembl Gene ID #39 HGNC_ID Human Genome Nomenclature Committee ID #40 HPRD_ID Human Protein Reference Database ID #41 OMIM_ID Online Mendelian Inheritance in Man ID #42 GENE_REFSEQ_STATUS gene RefSeq Status (from NCBI) # GENE_RGD_ID SYMBOL NAME GENE_DESC CHROMOSOME_CELERA CHROMOSOME_36 CHROMOSOME_37 FISH_BAND START_POS_CELERA STOP_POS_CELERA STRAND_CELERA START_POS_36 STOP_POS_36 STRAND_36 START_POS_37 STOP_POS_37 STRAND_37 CURATED_REF_RGD_ID CURATED_REF_PUBMED_ID UNCURATED_PUBMED_ID ENTREZ_GENE UNIPROT_ID (UNUSED) GENBANK_NUCLEOTIDE TIGR_ID GENBANK_PROTEIN UNIGENE_ID SSLP_RGD_ID SSLP_SYMBOL OLD_SYMBOL OLD_NAME QTL_RGD_ID QTL_SYMBOL NOMENCLATURE_STATUS SPLICE_RGD_ID SPLICE_SYMBOL GENE_TYPE ENSEMBL_ID HGNC_ID HPRD_ID OMIM_ID GENE_REFSEQ_STATUS 6481317 A2ML1-AS1 A2ML1 antisense RNA 1 100874108 AC006513;AC092490 APPROVED miscrna 41022 6766578 A2M-AS1 A2M antisense RNA 1 12 p13.31 9217773 9220651 + 14702039 144571 ABBA01012257;AC007436;AK056852;AK096375;AMYH01004244;NR_026971 Hs.592432 2139910 SGC31674 APPROVED miscrna ENSG00000245105 27057 PREDICTED 1606731 A3GALT2 alpha 1,3-galactosyltransferase 2 1 1 1 p35.1 32044033 32050184 - 33544954 33559286 - 33772367 33778494 - 6480464 18630988;23378701 127550 ABBA01023379;ABBA01023380;AL513327;AMYH01000479;AMYH01000480;NM_001080438 NP_001073907 A3GALT2P;IGBS3S alpha 1,3-galactosyltransferase 2;alpha 1,3-galactosyltransferase 2, pseudogene;globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 pseudogene;iGb3 synthase;isoglobotriaosylceramide synthase APPROVED protein-coding 30005 INFERRED 1350441 A2MP1 alpha-2-macroglobulin pseudogene 1 12 12 12 p13.31 10921342 10924048 - 9275469 9278175 - 9381129 9386803 - 1299021 2478422 19105203;20617511;16344560;22747683;21338416 3 ABBA01012258;AC010175;AMYH01004244;DB301195;DV080209;DV080210;DY655603;DY655604;M24415;NR_040112 Hs.569125 A2MP APPROVED pseudo ENSG00000256069 8 VALIDATED 2311720 A1BG-AS1 A1BG antisense RNA 1 19 19 19 q13.4 55907329 55910543 + 58863336 58866549 + 58863336 58866549 + 12477932 503538 ABBA01020773;AC012313;AK027222;AMYH01010034;BC006144;BC040926;NR_015380 Hs.709582 1721049;1771488;2158079 G59506;RH65092;WI-16009 A1BG-AS;A1BGAS;FLJ23569;NCRNA00181 APPROVED miscrna ENSG00000268895 37133 PREDICTED 1342487 AA atrophia areata, peripapillary chorioretinal degeneration 1298614 7795606 8 11 1606453 A2ML1 alpha-2-macroglobulin-like 1 This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein acts as an inhibitor for several proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID: 20805888). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 12 12 12 p13.31 10512687 10566801 + 8866417 8920646 + 8975150 9029381 + 16298998;19204726;18648652;17562024;16344560;14702039;12477932;10737800;20805888 144568 A8K2U0;B3KVV6;F5GXP1;F5GYG7;F5H2Z2;H0YGG5;H0YH14 ABBA01012252;ABBA01012253;ABBA01012254;AC006513;AC006581;AK057908;AK096448;AK122624;AK123591;AK123592;AK123601;AK290355;AK302555;AL832139;AL832750;AL833479;AMYH01004241;AMYH01004242;BC093840;BC112131;BF330285;BF354222;BX647674;BX648231;CH471116;DA436610;DA456454;DA461408;EL594621;NM_144670;NR_046256 A8K2U0;AAH93840;AAI12132;AAI72370;BAB71612;BAC04793;BAC85494;BAC85653;BAC85654;BAF83044;BAG53918;BAH13740;EAW88602;EAW88603;EAW88604;EAW88605;EAW88606;EAW88607;NP_653271 Hs.620532 CPAMD9;DKFZp686C1729;DKFZp686D2011;DKFZp686G1812;DKFZp686L1821;DKFZp686O1010;FLJ16045;FLJ25179;FLJ39129;FLJ41597;FLJ41598;FLJ41607 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 9;C3 and PZP-like, alpha-2-macroglobulin domain containing 9;OTTHUMP00000158614;OTTHUMP00000236620;OTTHUMP00000236621;alpha-2-macroglobulin-like protein 1 APPROVED protein-coding ENSG00000166535 23336 08684 610627 VALIDATED 1347562 AACP arylamide acetylase pseudogene 8 8 8 p22 17193380 17195348 + 18271499 18273867 + 18227419 18229387 + 1298616 2340091 9284941;21995608;23459443 11 ABBA01021573;AC025062;AC120051;AMYH01018550;NG_004857;X17060 NATP pseudo 15 INFERRED 69466 A1BG alpha-1-B glycoprotein The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 55902160 55908858 - 63548356 63556669 - 58858172 58864865 - 1580863;6480464 3458201;18706098;16335952;15489334;15461460;15221005;14760718;14702039;12477932;8889549;3610142;2591067;20116414;21591266;21900206;21988832;23284758 1 M0R009;P04217 AA484435;AB073611;ABBA01020773;AC010642;AC012313;AF414429;AI022193;AK055885;AK056201;AK289417;AMYH01010034;BC035719;BX325198;BX537419;CH471135;NM_130786;T80683;W25099 AAH35719;AAL07469;BAD38648;BAF82106;BAG51591;CAD97661;EAW72575;NP_570602;P04217 Hs.529161;Hs.709582 1721049;1771488;2158079;5015861;5016781;5022651;5024039;5037552;5109663;7185938 D10S16;D11S2921;D16S325;D7S2067E;D8S2279;G59506;RH65092;SHGC-67307;WI-16009 A1B;ABG;DKFZp686F0970;GAB;HYST2477 alpha-1B-glycoprotein APPROVED protein-coding ENSG00000121410 5 00726 138670 REVIEWED 734223 A4GALT alpha 1,4-galactosyltransferase The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. The encoded protein, which is a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. [provided by RefSeq, Jul 2008] 22 22 q13.2 41418071 41446820 - 43088127 43116876 - 1300231;1580863;6480464;6907045 7795329 10747952;10748143;19470247;19139081;18757779;18067504;16212661;15489334;15142124;12888565;12477932;11896312;11782470;10993874;10854428;10591208;16712791;20732996;20837469;20971946;21186071;21092013;22965229;20961863 53947 Q6RJV6;Q9NPC4 AB037883;AB041418;ABBA01017929;AF513323;AF513326;AF513327;AJ245581;AK074388;AK312927;AL049757;AMYH01012822;AY166861;AY166862;AY166863;AY358074;AY496228;AY496229;AY496230;AY941797;BC017068;BC055286;CB150578;CH471138;NG_007495;NM_017436;Z82176 AAH17068;AAH55286;AAO39149;AAO39150;AAO39151;AAP47164;AAP47167;AAP47168;AAQ68076;AAS77214;AAS77215;AAS77216;AAX20109;ABM82545;ABM85737;BAA94503;BAA95915;BAG35771;CAB93532;EAW73274;NP_059132;Q9NPC4 Hs.105956 1341545;1685636;1797228;2143287 A4GALT_673;D22S417;D22S559;RH98428 A14GALT;A4GALT1;Gb3S;P(k);P1;P1PK;PK CD77 synthase;GB3 synthase;P blood group (P one antigen);P(k) antigen synthase;P1/Pk synthase;UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase;alpha-1,4-N-acetylglucosaminyltransferase;alpha4Gal-T1;globotriaosylceramide synthase;lactosylceramide 4-alpha-galactosyltransferase APPROVED protein-coding 18149 06390 111400;607922 REVIEWED 1604681 AACSP1 acetoacetyl-CoA synthetase pseudogene 1 5 5 5 q35.3 173819191 173830764 - 178126805 178148409 - 178191862 178203277 - 12477932;10682835 729522 AA954365;ABBA01010006;AC113348;AC126915;AMYH01015946;BC024222;BC140764;BC144474;DR008193;NR_024035 AAI40765 Hs.382790 1715233;2122465 D5S2536;RH119867 AACSL APPROVED pseudo 18226 VALIDATED 733348 A1CF APOBEC1 complementation factor Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 10 10 q11.23 52236331 52315441 - 52559169 52645435 - 1300341;1300239;6480464 734901;704405 11871661;10669759;12896982;12881431;10781591;16055734;15164054;15148397;14702039;12477932;11815617;11752456;11718896;11577082;11571303;11352648;11329013;11134005;11072063;10833526;19932086;18029348;22318606;23263486 29974 B4E1E3;F8W9F8;Q5T0W7;Q9NXC9 ABBA01052491;AF209192;AF271789;AF271790;AJ272078;AJ272079;AK000324;AK130022;AK291982;AK303801;AL512366;AL589794;AMYH01002736;BC022263;BC054873;BC130519;BC144194;BC144196;BG188383;CH471083;CR749831;NG_029916;NM_001198818;NM_001198819;NM_001198820;NM_014576;NM_138932;NM_138933 AAF34824;AAF76221;AAF76222;AAH54873;AAI30520;AAI44197;BAA91086;BAF84671;BAG64755;CAB94754;CAB94755;EAW54133;EAW54134;EAW54135;EAW54136;EAW54137;EAW54138;NP_001185747;NP_001185748;NP_001185749;NP_055391;NP_620310;NP_620311;Q9NQ94 Hs.282795 1644398;1699864;2109023;2116001;2123823;2164434;2164436;5094146 A006G44;ACF_9619;D10S1464;G20794;G54572;RH103539;RH46928;RH70135 ACF;ACF64;ACF65;APOBEC1CF;ASP;MGC163391;RP11-564C4.2 APOBEC-1 stimulating protein;APOBEC1 complementation factor;APOBEC1-stimulating protein;OTTHUMP00000019611;OTTHUMP00000019612;OTTHUMP00000019614;OTTHUMP00000019615;apo-B RNA editing protein;apobec-1 complementation factor (ACF) (ASP);apobec-1 complementation factor, apobec-1 stimulating protein APPROVED protein-coding 24086 10627 REVIEWED 732340 AACS acetoacetyl-CoA synthetase 12 12 12 q24.31 125154148 125231815 + 124115878 124193824 + 125549925 125627871 + 1300048;2301022;2326093;2326191;6480464;6907045 12034369;15877199;19219059 18660489;17762044;14702039;12623130;12477932;9671465;4073493;20102333;21139048;21890473 65985 E7EW25;F5GWW7;F5GYN1;F5GYW2;F5H3E3;F5H4V2;F5H6X9;F5H790;F5H8J5;F8W8B5;Q9HA19 AB054121;ABBA01060343;ABBA01060344;ABBA01060345;ABBA01060346;ABBA01060347;ABBA01060348;ABBA01060349;ABBA01060350;ABBA01060351;AC122688;AK022451;AK022740;AK024036;AK024760;AK123245;AK304176;AK308779;AL833047;AMYH01004854;AY091468;BC004997;BC036694;BC040490;BC040574;BC041000;BC051862;CH471054;NM_023928 AAH04997;AAH36694;AAH40490;AAH40574;AAH41000;AAH51862;AAM44124;BAB14040;BAB14216;BAB14793;BAB14991;BAD22560;BAG65058;CAH56309;EAW98473;EAW98474;EAW98475;NP_076417;Q86V21 Hs.656073 2115113;2174109;5015739 A004F14;D21S1952;RH79052 ACSF1;FLJ12389;FLJ41251;SUR-5 OTTHUMP00000239025;acetoacetate-CoA ligase;acetoacetyl-CoA synthetase;acyl-CoA synthetase family member 1;homolog of C. elegans supressor of ras 5 (sur-5);protein sur-5 homolog protein-coding ENSG00000081760 21298 12391 614364 VALIDATED 1348447 A4GNT alpha-1,4-N-acetylglucosaminyltransferase This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq, Jul 2008] 3 3 3 p14.3 136267340 136276009 - 139325756 139333897 - 137842560 137851229 - 1580863;2325199 16441422 10430883;18029348;15489334;12594234;12477932;11304796;8125298;19751437;20379614;22307328 51146 Q9UNA3 ABBA01059096;AC023049;AF141315;AK225668;AMYH01013531;BC119639;BC119640;CH471052;NM_016161 AAD48406;AAI19640;AAI19641;EAW79084;NP_057245;Q9UNA3 Hs.278960 1792960;2109017 A4GNT_9671;PMC17720P1 MGC149493;alpha4GnT OTTHUMP00000216632;alpha-1,4-N-acetylglucosaminyltransferase APPROVED protein-coding ENSG00000118017 17968 12390 REVIEWED 737554 AADAC arylacetamide deacetylase Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq, Jul 2008] 3 3 q25.1 153014551 153028966 + 151531861 151546276 + 1580863;6480464 9665742;11481320;18029348;10318829;15152005;8063807;19343046;15489334;12721789;12477932;9299245;2043131;20694011;17936933;19339378;20379614;22415931;21856291;22318606 13 C9K0E9;P22760 ABBA01058902;AC068647;AK290628;AMYH01013580;AV705031;BC020706;BC032309;CH471052;L32179;NM_001086 AAA35551;AAH32309;BAF83317;EAW78791;EAW78792;NP_001077;P22760 Hs.506908 1719865;1775443;2116237;2218966;5024050 AADAC__4228;D3S4189;RH124029;RH36344;STS-L32179 CES5A1;DAC OTTHUMP00000216826;OTTHUMP00000216827;arylacetamide deacetylase;arylacetamide deacetylase (esterase) APPROVED protein-coding ENSG00000114771 17 02640 600338 REVIEWED 1606396 AADACL2 arylacetamide deacetylase-like 2 3 3 3 q25.1 149869849 149893701 + 152934405 152958242 + 151451704 151475556 + 17562024;12477932;17207965 344752 F8WFE5;Q6P093 ABBA01058902;ABBA01058903;AC069067;AMYH01013580;BC065724;BX118873;BX647585;CH471052;CU449274;NM_207365 AAH65724;ADQ32028;CAI46075;EAW78796;EAW78797;NP_997248;Q6P093 Hs.144710 1661016;1723779;2184906 RH118627;RH67844;STS-D25713 MGC72001 OTTHUMP00000208912;arylacetamide deacetylase-like 2 protein-coding ENSG00000197953 24427 14705 VALIDATED 1602438 AADACL3 arylacetamide deacetylase-like 3 1 1 1 p36.21 11888626 11901234 + 12698705 12711313 + 12776118 12788726 + 16710414 126767 Q5VUY0 ABBA01003098;AK127828;AL513016;AMYH01000261;NM_001103169;NM_001103170 BAG54581;NP_001096639;NP_001096640;Q5VUY0 Hs.464705 1756027 SHGC-142838 RP11-474O21.3 OTTHUMP00000001868;OTTHUMP00000001869;arylacetamide deacetylase-like 3 protein-coding ENSG00000188984 32037 VALIDATED 1603850 AADACL4 arylacetamide deacetylase-like 4 1 1 1 p36.21 11817069 11839616 + 12627153 12649684 + 12704566 12727097 + 16710414;23251661 343066 Q5VUY2 ABBA01003095;ABBA01003096;AL513016;AMYH01000261;CH471130;NM_001013630 EAW71744;NP_001013652;Q5VUY2 Hs.209954 1692760 AL034145 OTTHUMP00000001872;arylacetamide deacetylase-like 4 protein-coding ENSG00000204518 32038 15402 PROVISIONAL 735738 A2M alpha-2-macroglobulin Alpha-2-macroglobulin is a protease inhibitor and cytokine transporter. It inhibits many proteases, including trypsin, thrombin and collagenase. A2M is implicated in Alzheimer disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. [provided by RefSeq, Jul 2008] 12 12 p13.31 9111571 9159825 - 9220304 9268558 - 1302534;1300322;1300048;1549856;1598509;1331525;1598512;1598513;1300321;1358261;1580863;1549857;2298922;1598407;6480464;6484113;6907045;7240710 9697696;10319853;12494268;9843780;15118671;16538883;14960360;2475424;15509519;11498265;12809600 11435418;9714181;10880251;12538697;18029348;59727;14718574;19105203;19074141;18706476;18579803;18499670;18382889;18171086;18077315;17967834;17608619;17453620;17403113;17288987;17071617;16910174;16784755;16650578;16641085;16456795;16407218;16402284;16384981;16335952;16297527;16232083;16040006;15931081;15910735;15908432;15793779;15611997;15511627;15489334;15468911;15023809;14760718;14759632;14715656;14678766;14675603;14637088;14506912;12966032;12782964;12782337;12755687;12755614;12754519;12631277;12477932;7680268;7533769;7533162;7519849;6203908;6195065;6191979;6172288;6167263;6165619;6153632;3289986;2581245;2476070;2460294;2459995;2430963;2408344;1707161;1697852;1692292;1374237;1370808;1281457;89758;7690356;7524416;1724156;10681572;1702714;12394648;12221172;12194978;12175343;12123860;12062545;12059070;12042276;12015318;11987698;11916201;11910179;11901360;11823454;11811950;11496365;11484172;11455130;11436125;11290389;11281447;11231028;11166925;11162584;11121179;11100124;11099722;11058789;11036822;11023837;10731476;10714547;10652313;10373500;9865955;9831625;9724081;9344465;9166830;8583572;14687906;15950906;8662763;15226301;15231748;15862967;16169070;16289162;18191876;19639019;20048078;20207732;20381197;20401725;20493925;2466831;2467766;6698368;80233;9398211;9428387;18075673;19472074;20156641;23397525;19913121;20587546;20628086;20637261;20575108;20800603;20861575;21216953;21163940;21642630;22971340;23643808;18624398;21541797;21900206;21971609;22541546;22576683;20301340;17110338;20085233;21988832;23089609;23353684;23086799;23064953 2 F5H1E8;F8W7L3;H0YFH1;H0YGH6;P01023 AB209614;ABBA01012257;AC007436;AF349032;AF349033;AK307832;AK312482;AMYH01004244;AY591530;BC026246;BC040071;BX504041;BX647329;CH471116;CR749334;M11313;M36501;NG_011717;NM_000014;X68728;X68729;Z11711 AAA51551;AAA51552;AAH26246;AAH40071;AAK38109;AAK38110;AAT02228;BAD92851;CAA48670;CAA77774;CAH18188;EAW88590;NP_000005;P01023 Hs.212838 1662765;1694930;1721679;1741555;1794408;2127497;2139910;2162034;5091865;5096722;5108442;5109727 D12S1160E;D12S1395E;G44356;G59851;GDB:181517;PMC311069P4;RH11157;RH1601;RH46356;RH70338;SGC31674;SGC33440 A2MD;CPAMD5;DKFZp779B086;FWP007;S863-7 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 5;OTTHUMP00000196829;alpha-2-M;alpha-2-macroglobulin APPROVED protein-coding ENSG00000175899 7 00072 103950;104300;614036 REVIEWED 1313944 AAED1 AhpC/TSA antioxidant enzyme domain containing 1 9 9 9 q22.32 69845106 69859172 - 98443354 98457420 - 99403533 99417599 - 6480464 16341674;15164053;12477932;12234665;14710190;19322201 195827 H0Y5J5;H0Y7F1;Q7RTV5 ABBA01043573;ABBA01043574;ABBA01043575;AL353578;AMYH01021546;BC136501;BC136503;BF445089;BK000255;BM843088;BU631382;CH471174;NM_153698 AAI36502;AAI36504;DAA00065;EAW92661;EAW92662;EAW92663;NP_714542;Q7RTV5 Hs.44640 1336988 D12S1672 C9orf21 OTTHUMP00000021724;OTTHUMP00000021725;OTTHUMP00000021726;UPF0308 protein C9orf21;ahpC/TSA antioxidant enzyme domain-containing protein 1;hypothetical protein LOC195827;thioredoxin-like protein AAED1 APPROVED protein-coding 16881 18571 VALIDATED 1606004 AADAT aminoadipate aminotransferase This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Two alternative transcripts encoding the same isoform have been identified, however, additional alternative transcripts and isoforms may exist. [provided by RefSeq, Jul 2008] 4 4 q33 171217948 171247947 - 170981373 171011372 - 2290313;2290312;6480464;6907045 3400092;6466295 12126930;18056996;18056995;15489334;14702039;12477932;10441733;8087205;1798692;17207965;20877624;18620547;21473761;21712776;23408906 51166 D6RC56;D6REB9;D6RFY7;Q4W5N8;Q8N5Z0 ABBA01070343;AC084866;AF481738;AI190763;AK055952;AK314729;AMYH01014706;BC031068;CH471056;NM_016228;NM_182662 AAH31068;AAM09683;AAY41030;ADQ32439;BAG37271;BAG51596;EAX04770;EAX04771;EAX04772;NP_057312;NP_872603;Q8N5Z0 Hs.529735 1678037;1752677;1797230;2149339 AADAT_2008;D4S2681;RH98386;SHGC-106503 KAT2;KATII 2-aminoadipate aminotransferase;2-aminoadipate transaminase;KAT/AadAT;L kynurenine/alpha aminoadipate aminotransferase;OTTHUMP00000219261;OTTHUMP00000219264;OTTHUMP00000219276;OTTHUMP00000219277;alpha-aminoadipate aminotransferase;kynurenine aminotransferase II;kynurenine--oxoglutarate aminotransferase II;kynurenine--oxoglutarate transaminase 2;kynurenine--oxoglutarate transaminase II;kynurenine/alpha-aminoadipate aminotransferase, mitochondrial APPROVED protein-coding ENSG00000109576 17929 12392 611754 REVIEWED 1318625 AAAS achalasia, adrenocortical insufficiency, alacrimia The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 12 12 q13 51987507 52001648 - 53701240 53715412 - 1549858;1598514;1580863;6480464;7240710 15680696;16098009 12730363;19322026;19172511;19011813;18175081;16938764;16609705;16543750;16022285;15843079;15666842;15489334;15217518;15022193;14702039;12752575;12477932;12228227;11914417;11815731;11701718;11159947;11062474;8968764;8125298;20447142;10601273;19703420;19782045;19855093;20499090;20931227;21565631;23073554;18029348;16009940;21139048;21890473;21906983;18781797;21987572;22118674;21963094;21988832;22505724 8086 F8VUB6;F8VZ44;H3BU82;Q9NRG9 ABBA01008325;AC073611;AF226048;AJ289841;AJ289857;AJ297977;AK000833;AK094302;AK222509;AK293342;AL110160;AMYH01004479;AY237818;BC000659;BC018836;BT006912;CH471054;DC393722;NG_016775;NM_001173466;NM_015665 AAF86948;AAH00659;AAP35558;AAP69911;ABM84232;ABM84790;BAA91394;BAD96229;BAG56858;CAB53665;CAC17465;CAC19017;CAC19038;EAW96692;EAW96693;NP_001166937;NP_056480;Q9NRG9 Hs.369144 1736262;2146252;2149106;5020771 A008D12;D12S1190E;D12S1220E;RH15738 AAA;AAASb;ADRACALA;ADRACALIN;ALADIN;DKFZp586G1624;GL003 Allgrove, triple-A;OTTHUMP00000241954;OTTHUMP00000241955;OTTHUMP00000241957;achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A);aladin APPROVED protein-coding ENSG00000094914 13666 05646 231550;605378 REVIEWED 1603054 AAMDC adipogenesis associated, Mth938 domain containing 11 11 11 q14.1 74840499 74891881 + 77209856 77261046 + 77532208 77583398 + 6480464 15489334;14702039;12477932;17207965;20379614;21832049;21139048 28971 E9PIQ4;E9PJP1;E9PLK9;E9PNP3;E9PR47;H0YF35;K4DI89;Q9H7C9 ABBA01017417;ABBA01017418;ABBA01017419;ABBA01017420;AF092136;AK024688;AMYH01003825;AP000580;AP002812;BC002752;BC016854;CH471076;CR457332;NM_024684 AAD40378;AAH02752;AAH16854;ADQ32842;BAB14963;CAG33613;EAW75036;EAW75037;EAW75038;EAW75039;NP_078960;Q9H7C9 Hs.503357 1750507;1771090;1773037;1854952;2115639;5022651 D11S2921;G35311;RH36172;RH46290;SHGC-111817;WI-22785 C11orf67;CK067;FLJ21035;MGC3367;PTD015 OTTHUMP00000233914;OTTHUMP00000233915;OTTHUMP00000233920;UPF0366 protein C11orf67;adipogenesis associated Mth938 domain-containing protein;hypothetical protein LOC28971;mth938 domain-containing protein APPROVED protein-coding ENSG00000087884 30205 17924 PROVISIONAL 1605954 AAGAB alpha- and gamma-adaptin binding protein The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] 15 15 15 q22.33-q23 44380867 44434572 - 65280420 65334128 - 67493366 67547074 - 6480464;7240710 11256614;17081983;16381901;16344560;15489336;15489334;14702039;12477932;11230166;11076863;10477754;16169070;20641033;23064416;21139048;19322201;23000146;22505724;8889548 79719 B4DG44;H0YL49;Q6PD74 ABBA01038804;AC012568;AC110292;AK021568;AK294402;AL136715;AL832256;AMYH01006731;AMYH01006732;BC001975;BC035852;BC047026;BC058886;BQ185328;BX648272;CB243401;CH471082;CR533540;DA160293;DA688370;DC315715;NG_033007;NM_001271885;NM_001271886;NM_024666 AAH01975;AAH47026;AAH58886;BAB13845;BAG57655;CAB66649;CAG38571;CAH10544;CAI46180;CAL37898;CAL38289;EAW77792;EAW77793;NP_001258814;NP_001258815;NP_078942;Q6PD74 Hs.254642;Hs.602761 1686572;1855868;2115361;2181916 NIB1217;RH98780;STS-AA001611;WI-14364 DKFZp667D2317;DKFZp686G08119;FLJ11506;KPPP1;PPKP1;PPKP1A;p34 alpha- and gamma-adaptin-binding protein p34 protein-coding ENSG00000103591 25662 07754 148600;614888 REVIEWED 2311262 AARD alanine and arginine rich domain containing protein 8 8 8 q24.11 114139154 114144929 + 118019664 118024403 + 117950464 117956239 + 6480464 12477932;20549515 441376 B2RU19;Q4LEZ3 AB181519;ABBA01037793;AC087350;AMYH01018983;BC140924;BC142621;NM_001025357 AAI40925;AAI42622;BAE03184;NP_001020528;Q4LEZ3 Hs.437551 1650864;5093232;5118444 A009J48;D11S3316;G32598 C8orf85 OTTHUMP00000228048;alanine and arginine-rich domain-containing protein APPROVED protein-coding 33842 VALIDATED 1313595 AAK1 AP2 associated kinase 1 Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. This gene encodes a member of the SNF1 subfamily of Ser/Thr protein kinases. The protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 2 2 p14 69538631 69724481 - 69685127 69870977 - 6480464 17494869;17178891;16964243;16903783;16782842;16344560;16083285;15815621;15489334;15302935;15292237;14702039;14617351;12952931;12477932;12471243;11877461;11877457;10470851;21464124;18029348;19772629;20379614;18657069;21832049;19380743;22645275 22848 E9PG46;Q2M2I8 AB028971;ABBA01075505;ABBA01075506;ABBA01075507;ABBA01075508;AC079121;AC092431;AC114772;AC136007;AF090100;AF090101;AK055622;AK056043;AK074292;AK098797;AK124872;AK127187;AK310951;AMYH01010421;AMYH01010422;AW451954;AW969393;BC002695;BC073953;BC090950;BC104842;BC111965;BC132937;BC132939;BC143710;BX640963;BX641060;CA436375;CH471053;DA121999;DB285703;NM_014911 AAH02695;AAI04843;AAI11966;AAI43711;AAX88861;AAY14931;BAA83000;BAC86877;EAW99847;EAW99848;NP_055726;Q2M2I8 Hs.468878 1337247;1656192;1661977;1666485;1673673;1678443;1681376;1697148;1713095;1722833;1726605;1734872;1739013;1795208;2111188;2139761;2142488;2147149;2178497;5015404;5015861;5016596;5022578;5024761;5037552;5108775;5120437;7185938 A004N37;D10S16;D1S1423;D2S1631E;D2S1849;D2S1874;D2S2152;D2S420E;D3S1674;D8S2279;G60358;G62536;GDB:313505;GDB:315881;GDB:631802;HSC280_(HIRIPrep1);L17705;RH102060;RH120335;RH36415;RH36905;RH69534;RH81048;SHGC-34639;SHGC-57083;WI-13642;WI-21193 DKFZp686F03202;DKFZp686K16132;FLJ23712;FLJ25931;FLJ31060;FLJ42882;FLJ45252;KIAA1048;MGC138170;MGC164568;MGC164570 AP2-associated protein kinase 1;OTTHUMP00000202200;OTTHUMP00000202201;adaptor-associated kinase 1 APPROVED protein-coding 19679 10620 REVIEWED 736736 AANAT aralkylamine N-acetyltransferase The protein encoded by this gene belongs to the acetyltransferase superfamily. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. Melatonin is essential for the function of the circadian clock that influences activity and sleep. This enzyme is regulated by cAMP-dependent phosphorylation that promotes its interaction with 14-3-3 proteins and thus protects the enzyme against proteasomal degradation. This gene may contribute to numerous genetic diseases such as delayed sleep phase syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 17 17 q25 71975246 71977794 + 74449433 74466199 + 1300232;1580863;1300048;2301030;2301037;2302130;6480464;6907045;7240710 12736803;18624957;16441550;17164235 19343046;8661026;19184136;19086053;18794762;18569588;17503170;15489334;15332344;14728993;12552951;12477932;12039872;11934439;11427721;11393533;11336675;11313340;9238858;7502081;2181999;8024705;19839995;20377855;20459461;8889549;20586889;17207965;21697133;21437622;21778461 15 F1T0I5;J3KMZ5;K7ERF6;K7ESH7;Q16613 AA084486;AB023793;AB023794;AB023795;AB023796;AB023797;AB593119;ABBA01028742;AC015802;AF360979;AMYH01008643;AY055827;BC069434;BC092430;BC126332;BC126334;BC143989;CH471099;NG_015976;NM_001088;NM_001166579;U40347;U40391 AAC50554;AAC50555;AAH69434;AAH92430;AAI26333;AAI26335;AAK49981;ADQ32919;BAB20312;BAB20313;BAB20314;BAB20315;BAB20316;BAJ84059;EAW89400;NP_001079;NP_001160051;Q16613 Hs.431417 2216962 AANAT_2920 AA-NAT;DSPS;SNAT arylalkylamine N-acetyltransferase;arylalkylamine n - acetyltransferase;serotonin N-acetyltransferase;serotonin acetylase APPROVED protein-coding ENSG00000129673 19 02974 600950;614163 REVIEWED 1607091 AAMP angio-associated, migratory cell protein The gene product is an immunoglobulin-type protein. It is found to be expressed strongly in endothelial cells, cytotrophoblasts, and poorly differentiated colon adenocarcinoma cells found in lymphatics. The protein contains a heparin-binding domain and mediates heparin-sensitive cell adhesion. [provided by RefSeq, Jul 2008] 2 2 q35 218837096 218843137 - 219128852 219134893 - 7743515;18634987;16344560;15489334;15146197;12477932;11969303;10329261;8660919;8125298;16169070;19535145;20237496;21172430;21297633;21163940;22863883;22990118;22505724;22797925;21139048;21890473;21900206;21906983;21963094;23000965;23564791;23470693 14 C9JEH3;C9JG97;C9JTS3;H7C0R2;Q13685 AB209790;ABBA01023875;AC021016;AK131047;AK225078;AMYH01011494;BC008809;BC014122;BC020244;BC039866;BG534787;CH471063;CN277005;CR456755;DA465288;M95627;NG_033036;NM_001087 AAA68889;AAH08809;AAH20244;AAH39866;BAD93027;CAG33036;EAW70599;EAW70600;EAW70601;NP_001078;Q13685 Hs.83347 OTTHUMP00000207408;OTTHUMP00000207409;OTTHUMP00000207410;angio-associated migratory cell protein APPROVED protein-coding ENSG00000127837 18 04600 603488 REVIEWED 1606160 AASDH aminoadipate-semialdehyde dehydrogenase 4 4 4 q12 54710829 54760021 - 56899213 56948395 - 57204456 57253638 - 6480464 17762044;15865210;15198809;12712191;12477932;11230166 132949 D6RJA2;E9PH98;G3V0G4;Q96BW4;R4GNB1 ABBA01003422;ABBA01003423;ABBA01003424;AC068620;AF161436;AF516672;AK294332;AK303733;AK304309;AK316296;AMYH01014194;AY314787;AY422212;BC015096;BC071815;BC141824;BC142709;BX640635;BX648853;CH471057;NM_181806 AAF28996;AAH71815;AAI41825;AAI42710;AAP76519;AAQ83120;AAR31184;BAG57604;BAG64707;BAG65162;BAH14667;CAH56130;CAH56482;EAX05484;EAX05485;EAX05486;NP_861522;Q4L235 Hs.104347 1337502;2113768 AB050266;D4S3000 ACSF4;LYS2;NRPS1098;NRPS998 2-aminoadipic 6-semialdehyde dehydrogenase;OTTHUMP00000159061;OTTHUMP00000219036;OTTHUMP00000219037;OTTHUMP00000219039;acyl-CoA synthetase family member 4;non-ribosomal peptide synthetase 1098;non-ribosomal peptide synthetase 998 protein-coding ENSG00000157426 23993 12398 614365 VALIDATED 1321623 AARS2 alanyl-tRNA synthetase 2, mitochondrial The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011] 6 6 6 p21.1 45819616 45834241 - 44374441 44389041 - 44266463 44281063 - 6480464 15779907;15489334;14574404;12477932;12421765;10737800;10574462;20877624;15146197;15161933;21549344;22277967;21139048;21906983;18029348 57505 Q5JTZ9 AB033096;ABBA01050640;AL353588;AL536467;AMYH01016322;BC013593;BC021131;BC033169;BC041026;BC128175;BC131728;BF768723;CH471081;CN343332;NG_031952;NM_020745 AAH13593;AAH33169;AAI28176;AAI31729;BAA86584;EAX04268;NP_065796;Q5JTZ9 Hs.158381 1336615;5020740;5022651;5024413;5037552 D11S1286;D11S2921;D8S2279;L17809;L17877 AARSL;COXPD8;KIAA1270;MT-ALARS;MTALARS;bA444E17.1 OTTHUMP00000016528;alaRS;alanine tRNA ligase 2, mitochondrial (putative);alanine--tRNA ligase;alanine--tRNA ligase, mitochondrial;alanyl-tRNA synthetase 2, mitochondrial (putative);alanyl-tRNA synthetase, mitochondrial;alanyl-tRNA synthetase-like;probable alanyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000124608 21022 12397 612035;614096 REVIEWED 1312500 AARS alanyl-tRNA synthetase The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008] 16 16 q22 68843798 68880913 - 70286297 70323412 - 1298623;1580863;6480464;7240710 8595897 16751776;21549344;7654687;15489334;12477932;11829477;11532948;10508479;8125298;8076819;2915692;7761427;17081983;22573628;21319273;20045102;22863883;22009580;21139048;21890473;21906983;20301462;22586326;22939629;16263121;19738201;19805454;21963094;22623428;23000965;22053931;22505724 16 H3BPK7;P49588 ABBA01010671;ABBA01010672;ABBA01010673;AC009060;AC012184;AC093491;AK222824;AK225116;AK299098;AK307782;AMYH01007784;BC011451;BG764123;BU178772;CH471241;D32050;DQ591736;NG_023191;NM_001605 AAH11451;ABM82560;ABM85750;BAA06808;BAD96544;BAG61157;EAW51838;EAW51839;EAW51840;NP_001596;P49588 Hs.315137 1662218;1777544;2132308;2218170;5024085 A002L29;AARS__4231;D16S2972;RH65736;RH66606 CMT2N alaRS;alanine tRNA ligase 1, cytoplasmic;alanine--tRNA ligase;alanine--tRNA ligase, cytoplasmic;alanyl-tRNA synthetase, cytoplasmic;renal carcinoma antigen NY-REN-42 APPROVED protein-coding ENSG00000090861 20 03042 601065;613287 REVIEWED 1322325 AAR2 AAR2 splicing factor homolog (S. cerevisiae) This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] 20 20 20 pter-q12 31573223 31593632 + 34287861 34308267 + 34824447 34844853 + 6480464 22939629;16189514;15489334;12665801;12477932;11780052;11230166;10810093;17207965;16196087;20360068;21139048;21890473;21906983;21145461;22505724;22797925 25980 A2A2Q9;Q9Y312 ABBA01019127;AF113672;AF132957;AL117419;AL121895;AMYH01011878;AW006181;BC001751;BC019311;CH471077;HY019727;NM_001271874;NM_015511 AAD27732;AAF29578;AAH01751;AAH19311;ADQ32438;CAB55913;EAW76141;EAW76142;EAW76143;NP_001258803;NP_056326;Q9Y312 Hs.11314;Hs.744306 1677040;1755233;2123971 RH80496;SHGC-142131;SHGC-64252 C20orf4;CGI-23;DKFZp564N1363;bA234K24.2 OTTHUMP00000030846;OTTHUMP00000178583;hypothetical protein LOC25980;protein AAR2 homolog;uncharacterized protein C20orf4 APPROVED protein-coding ENSG00000131043 15886 12767 REVIEWED 1606776 AARSD1 alanyl-tRNA synthetase domain containing 1 17 17 17 q21.31 37758676 37788796 - 38356069 38385546 - 41102543 41116515 - 6480464 12477932;8889549;7545954;16344560;15489334;14702039;22863883;15342556;21139048;21693764;21890473;21906983;21963094;22505724 80755 H7C1K1;K7EQ85;K7N799;L7N2F4;L7N2F5;Q9BTE6 ABBA01006395;ABBA01006396;ABBA01006397;ABBA01006398;AC055866;AK309477;AL515977;AMYH01008398;AW296090;BP368900;CA951145;NM_001261434 NP_001248363;Q9BTE6 Hs.317403 1690628;1775214;2148148;5108931 D17S1142;RH47203;RH99229;SHGC-34202 MGC2744 OTTHUMP00000204017;OTTHUMP00000204018;OTTHUMP00000204019;OTTHUMP00000204020;OTTHUMP00000204130;alanyl-tRNA editing protein Aarsd1;alanyl-tRNA synthetase domain-containing protein 1 protein-coding ENSG00000266967 28417 14524 613212 VALIDATED 1344732 AAVS1 adeno-associated virus integration site 1 1334463 17 S51329 22 102699 1322778 AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. [provided by RefSeq, Jul 2008] 11 11 11 q22 103112558 103133685 + 105453502 105474629 + 105948292 105969419 + 1580863;6480464;6907045 11286508;11042152;10931946;10810093;12477932;12815048;16189514;15489334;18022563;19615732;19933275;22863883;22990118;21987572;20972266;21139048;21890473;21906983;22053931;22505724 60496 B4DDW7;E9PLW6;E9PNF3;Q9NRN7 AB072896;ABBA01039900;AF136978;AF151057;AF151838;AF201943;AF302110;AK293362;AK312529;AL050073;AMYH01004007;AP001001;BC015470;BC016728;BX537665;CH471065;NM_015423 AAD34075;AAF36143;AAF86879;AAG30872;AAG49439;AAH15470;AAH16728;ABM82268;ABM85450;BAG35428;BAG56878;CAB43257;EAW67077;EAW67078;NP_056238;Q9NRN7 Hs.524009 1666128;1718341;2139890;2147643;2174951;5115319 D11S2325E;D11S4277;NIB321;RH11761;RH122942;WI-15672 AASD-PPT;CGI-80;DKFZp566E2346;LYS2;LYS5 4'-phosphopantetheinyl transferase;L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase;LYS5 ortholog;OTTHUMP00000232353;OTTHUMP00000232354;alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase APPROVED protein-coding ENSG00000149313 14235 09675 607756 REVIEWED 1321929 AASS aminoadipate-semialdehyde synthase This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008] 7 7 7 q31.3 116522826 116593571 - 121503423 121561112 - 121713598 121784344 - 1300048;6480464;6907045;7240710 10775527;10567240;16344560;14702039;12853948;12690205;9847074;8889548;8125298;18029348;20877624;12477932;20811636;17314511;20186120;20467438;21890473;21906983 10157 A4D0W4;F8WAH1;F8WE53;H7C0C6;Q9UDR5 AACC02000001;ABBA01057750;AC006020;AF229180;AJ007714;AK023446;AK225898;AK294326;AMYH01017898;BC144246;BC144247;BM669241;CH236947;CH471070;DA995180;NG_008140;NM_005763 AAF03526;AAF44328;AAI56457;AAI72503;BAG51195;BAG57598;CAA07619;EAL24343;EAW83564;EAW83565;NP_005754;Q9UDR5 Hs.156738 1655942;1669482;2164710;2169275;2176433;2186499;5014051;5022200;5037552 A004U04;D8S2278;D8S2279;GDB:6028507;L18426;RH12669;RH46945;RH66224;STS-N81025 LKR/SDH;LKRSDH;LORSDH OTTHUMP00000211399;OTTHUMP00000211400;OTTHUMP00000211402;alpha-aminoadipate semialdehyde synthase;alpha-aminoadipic semialdehyde synthase, mitochondrial;aminoadipic semialdehyde synthase;lysine-2-oxoglutarate reductase;lysine-ketoglutarate reductase /saccharopine dehydrogenase APPROVED protein-coding 17366 05489 238700;268700;605113 REVIEWED 2304510 AATK-AS1 AATK antisense RNA 1 17 17 17 q25.3 75768565 75786300 + 76753902 76771559 + 79139307 79156964 + 12477932 388428 Q6ZT90 ABBA01032127;ABBA01032128;ABBA01032129;AC027601;AC115099;AK126811;AMYH01008706;AMYH01008707;BC140737;BC171777;CH471099;NR_027255 BAC86704;EAW89630 Hs.591202 FLJ44861 APPROVED miscrna ENSG00000225180 40053 16976 VALIDATED 1317702 AATK apoptosis-associated tyrosine kinase The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 17 17 q25.3 76705160 76721740 - 79091095 79139872 - 1580863;6480464 14521924;18029348;17651901;16969489;15489334;14702039;12670708;12477932;12168954;11314040;11314039;10837911;10083745;9734811;14563843;23080069;22321011;23251661 9625 H7C175;I3L360;I3L461;Q6ZMQ8 AB014541;ABBA01032123;ABBA01032124;ABBA01032125;ABBA01032126;ABBA01032127;ABBA01238725;AC115099;AK094931;AK131395;AK131529;AK309099;AMYH01008706;BC047378;BI256809;NG_029981;NM_001080395;NM_004920 AAH47378;BAA31616;BAD18544;BAD18667;NP_001073864;NP_004911;Q6ZMQ8 Hs.514575 1697596 RH102309 AATYK;AATYK1;KIAA0641;LMR1;LMTK1;p35BP CDK5-binding protein;OTTHUMP00000163589;OTTHUMP00000163590;brain apoptosis-associated tyrosine kinase;lemur tyrosine kinase 1;p35-binding protein;serine/threonine-protein kinase LMTK1 APPROVED protein-coding ENSG00000181409 21 05591 605276 REVIEWED 1347313 ABCA10 ATP-binding cassette, sub-family A (ABC1), member 10 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. [provided by RefSeq, Jul 2008] 17 17 17 q24 63715654 63812482 - 64655743 64752551 - 67144148 67240956 - 1580863;6480464 16094384;15489334;12821155;12477932;11435397;8894702;21145461 10349 E5RFN6;E5RFP5;H0YBL8;K7EMH5;K7ERP5;Q8WWZ4 ABBA01028948;ABBA01028949;AC005495;AK298508;AK310858;AL832004;AMYH01008594;AMYH01008595;AY028900;AY247065;AY247105;BC031026;BC051320;BC136460;BC144124;C16161;CH471099;NM_080282 AAH31026;AAH51320;AAI66667;AAK30025;AAO72160;AAO72161;BAG60714;CAD89903;EAW89077;EAW89078;NP_525021;Q8WWZ4 Hs.25377 1644404;1778298;2131940 SHGC-67596;STS-N22346;STS-R46526 EST698739 ATP-binding cassette A10;ATP-binding cassette sub-family A member 10;OTTHUMP00000227288;OTTHUMP00000227360 APPROVED protein-coding ENSG00000154263 30 12400 612508 REVIEWED 734398 AATF apoptosis antagonizing transcription factor The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq, Jul 2008] 17 17 q12 32380288 32488284 + 35306175 35414171 + 1580863;6480464 15231747;17157788;10580117;18029348;12429849;18341201;17488777;17468107;17081983;17006618;16565220;16189514;15635413;15489334;15207272;14761944;14702039;14697667;14627703;12847090;12477932;12450794;11790298;11027528;21145461;10783144;20532202;20708154;12376548;12787561;18049476;19834535;20025740;19454010;20211142;22909821;21252943;19471022;21139048;21693764;21890473;21906983;21987572;22586326;21963094;21988832;22751105;22933572;23000965;22505724;22797925;22678362;23251661 26574 K7EK88;K7ENE9;K7ERC2;Q9NY61 ABBA01012433;ABBA01012434;ABBA01012435;AC003103;AC023315;AF083208;AF161395;AJ249940;AK026173;AK057229;AMYH01008361;BC000591;CH471199;NM_012138 AAD52016;AAF28955;AAH00591;ABM83023;ABM86216;BAG51888;CAB57451;EAW57575;NP_036270;Q9NY61 Hs.195740 1337147;1729701;2120412;2164955;2184303 A007I45;D17S1867;D17S581;G09336;WI-11337 CHE-1;CHE1;DED apoptosis-antagonizing transcription factor;protein AATF;rb-binding protein Che-1 APPROVED protein-coding ENSG00000108270 19235 12236 608463 REVIEWED 1346566 ABCA11P ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene 4 4 4 p16.3 360935 409700 - 409224 457918 - 419224 467998 - 6480464 16344560;14702039;12477932 79963 Q4W5N1 ABBA01019327;ABBA01019328;AC092574;AK024359;AK303674;AMYH01013833;AMYH01013834;BC040413;BC060316;BC098116;BC098259;BC098291;BC099730;BC105084;BC112069;CH471131;DA501191;NR_002451 AAY41037;BAB14895;BAG64671;EAW82667;Q4W5N1 Hs.428360 1644404;2178602;2180166;5093954 A009Z27;G33021;RH36065;SHGC-67596 ABCA11;EST1133530;FLJ14297;FLJ57767;MGC120309;MGC120310;MGC120312;MGC132744;MGC138274 atp-binding cassette, sub-family a (abc1), member 11 APPROVED pseudo 31 08597 VALIDATED 736157 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008] 9 9 q31.1 106583104 106730257 - 107543283 107690527 - 1298630;1331525;1600654;1580863;1298571;1600951;1598532;1598533;1598534;1598547;1300323;1601092;1300233;1300234;2312576;6480464;6484679;7240710 8088782;15118671;16258026;10431236;11086027;16941710;17026988;15995177;12507911;15024730;17287470;11423537;10760292;18003760;21718801 12235128;7766993;22262807;15140889;15135251;15102890;15066991;15033469;14993242;14986172;14967823;14967052;14962947;14767869;14754908;14734645;14702039;14701850;14701812;14681836;14668333;14660648;14644402;14576201;14570867;14560020;14559902;12966036;12952980;12928428;12870173;12869555;12860256;12813037;12804586;12763760;12730295;12709788;12706378;12700893;12624133;12615681;12600975;12600718;12576507;12562845;12551894;12535741;12511593;12509412;12477932;15158913;12426219;12359250;16443932;12084722;16702602;15469992;11162594;14747463;17305370;11855831;15163665;18490524;14701824;10525055;19606474;19556522;19538231;19528336;19489872;19474452;19420105;19343046;19341173;19336370;19304576;19304534;19295162;19287193;19285487;19268428;19261092;19258317;19201688;19170766;19168441;19151332;19148283;19133158;19131637;19099922;19070858;19060911;19060906;19059534;19056482;19019193;18996286;18955690;18927546;18927311;18841006;18820007;18805791;18803945;18789440;18782758;18782226;18776170;18767813;18762171;18711208;18706283;18676680;18660489;18640393;18621447;18617649;18583707;18566305;18523221;18484747;18468402;18385134;18354102;18343215;18287097;18252847;18239666;18220685;18219093;18218626;18215356;18199144;18193044;18193043;18164264;18097620;18057374;17992631;17991739;17951323;17923263;17855807;17700364;17690481;17689273;17656736;17608096;17556657;17553166;17550732;17521614;17510949;17510946;17510466;17481640;17430597;17412755;17407076;17383594;17372331;17368464;17335784;17324514;17268197;17241464;17196163;17135600;17135302;17121837;17113061;17082211;17070530;17020879;17001213;16928680;16902247;16901265;16879828;16873719;16870193;16855366;16825673;16806540;16806233;16770077;16763159;16730733;16725228;16709568;16596262;16542392;16505586;16500904;16497665;16456089;16446539;16429166;16418537;16410457;16343503;16313984;16254209;16235041;16226177;16207713;16192292;16192291;16192290;16192289;16192288;16192287;16192286;16192285;16192284;16192283;16192282;16192281;16192279;16192278;16192277;16192276;16192275;16192274;16192273;16192272;16192271;16192270;16192269;16166555;16157450;16126721;16120575;16118212;16086925;16080812;16055210;16030523;16009332;15983222;15961705;15958302;15952113;15951431;15935359;15930518;15905177;15890646;15851589;15829498;15817453;15774904;15721294;15696473;15657615;15649702;15574409;15528481;15528463;15520867;15500734;15492319;15358760;15358117;15340333;15297675;15292375;15288432;15280376;15262183;15218032;15201080;12226704;12204794;12196520;12176027;12151852;12111371;12093886;12054535;12032171;12009425;11950847;11940086;11929608;11893753;11861672;11809185;11785958;11752403;11719471;11700048;11476965;11476961;11352567;11349008;11279031;11257261;11257260;11238261;10970803;10938021;10884428;10799318;10706591;10535983;10533863;10431238;10431237;10092505;9731541;9006906;22503545;17076584;12505994;11864601;21117950;20103810;19553242;20395597;20702810;14722086;17205124;17604270;17710129;19170196;19201410;19202195;19446537;19530967;19556721;19578796;19589783;19596329;19625176;19656776;19673941;19692168;19692220;19721717;19743957;19765707;19767535;19773416;19783654;19828131;19837407;19878569;19902402;19913121;19948975;20031551;20067955;20079340;20089670;20093111;20160193;20167577;20170916;20173014;20185793;20227257;20303467;20346718;20348106;20379614;20385819;20385826;20394740;20418488;20430392;20338636;20880529;20413849;20553836;20064972;20215580;20101560;20378541;20800056;20864672;22389325;20057170;20571217;20571754;20595220;20628086;20634891;20679960;20797885;21116278;20188211;20691829;20714348;20835684;20855565;20972250;20427018;20485864;20951680;20472936;20506155;20625316;21247457;21300560;21489276;21507939;21289254;21347282;20643408;20671065;20727372;21530801;21575609;21310416;21389634;21130966;22981231;21634116;21339300;21591583;22668585;22982414;21478209;21501868;21315358;21677398;21757691;21447678;21111593;21520210;21740892;22672264;21817095;21613373;21734188;21829447;20807164;21951852;21885853;22311493;22418575;22584245;23381994;23479619;21501700;21846716;23505323;21988832;23053993;23233737;21601208;21605865;21643759;21763656;21840005;22028339;22035022;22074701;22170052;22178419;22190032;22282358;22315319;22384526;20686565;21909109;22119192;22248050;22271762;22286219;22399527;22425645;22516753;21860089;23139370;23152888;23179156;23204179;23103472;23132909;22419126;22498566;22889411;16498633;22959828;22610793;23273975;22913458;15123239;23049088;20479131;20731376;21749932;21875686;21920460;22750655;22844345;23111454;23181436;22984509;23220274;22466164;22916037;22377775;23136402;22614118 19 B1AMI1;B1AMI2;B2RUU2;B7XCW9;Q9UN09 AB037924;AB055982;AB208839;AB445477;ABBA01042826;ABBA01042827;ABBA01042828;ABBA01042829;ABBA01042830;ABBA01042831;AF165281;AF165286;AF165306;AF165309;AF165310;AF258627;AF275948;AF285167;AF287262;AJ012376;AJ252277;AK024328;AK027864;AL353685;AL359182;AL359846;AMYH01021596;AMYH01021597;BC034824;BC146856;BU753834;BX955241;CH471105;NG_007981;NM_005502 AAD49849;AAD49851;AAD49852;AAD49853;AAD49854;AAF69513;AAF86276;AAF98175;AAI46857;AAK43526;BAB07875;BAB63210;BAD92076;BAH10664;CAA10005;CAC21428;EAW58992;EAW58993;EAW58994;NP_005493;O95477 Hs.659274 1336833;1342226;1682704;1740053;1793292;1794628;1797232;1856173;2117264;2184763;5017955;5093832 A009X28;ABCA1;ABCA1_2173;D9S1765;D9S306;D9S53;G32950;PMC207565P1;PMC33205P1;RH70166;RH81050;STS-T64961 ABC-1;ABC1;CERP;FLJ14958;HDLDT1;MGC164864;MGC165011;TGD ATP-binding cassette sub-family A member 1;ATP-binding cassette transporter 1;ATP-binding cassette transporter A1;OTTHUMP00000021833;cholesterol efflux regulatory protein;membrane-bound APPROVED protein-coding ENSG00000165029 29 02501 143890;205400;600046;604091 REVIEWED 1312110 ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 2 2 q34 215504511 215711396 - 215796266 216003151 - 1598548;6480464;7240710 12915478 17986308;12697999;19179616;17927575;17611579;17591952;17508018;16902423;16007253;15980630;15756637;14702039;11435397;10094194;8894702;8845852;20869849;12477932;19262603;19429679;20379614;20672373;21339420;21633372;22257947;21712002;21798141;20301593;22505724 26154 E9PBK1;Q86UK0 ABBA01062786;ABBA01062787;ABBA01062788;AC072062;AC114780;AF418105;AK096597;AK123578;AL080207;AMYH01011484;AMYH01011485;AMYH01011486;AY033486;AY219711;BC144073;CH471063;NG_007074;NM_015657;NM_173076;NR_103740 AAI56328;AAK54355;AAN40735;AAP21093;AAY24230;AAY24276;BAG53915;CAB45776;EAW70520;EAW70521;EAW70522;NP_056472;NP_775099;Q86UK0 Hs.134585 1751351;1753333;1916176;2107805 ABCA12_8176;REN28899;SHGC-105192;SHGC-86012 ARCI4A;ARCI4B;DKFZp434G232;FLJ41584;ICR2B;LI2 ATP-binding cassette sub-family A member 12;ATP-binding cassette transporter 12;OTTHUMP00000206681;OTTHUMP00000206683 APPROVED protein-coding ENSG00000144452 14637 07416 242500;601277;607800 REVIEWED 732065 ABAT 4-aminobutyrate aminotransferase 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 p13.2 8675928 8785933 + 8768444 8878432 + 1580863;1598516;1598518;1598520;1598522;1598524;1598531;1300048;6480464;6907045;7240710 10375453;9846053;9706369;9344635;7740056;1570022 15528998;17474147;15650327;11918424;18334916;16344560;15830322;15642443;15489334;14702039;12694932;12477932;10951220;10407778;7851425;7721088;7305280;6470007;6148708;11181995;11256614;19598235;20052547;20379614;20659789;20677014;20877624;21552517;19805454 18 H3BMJ9;H3BNQ7;H3BP74;H3BP84;H3BPW8;H3BRJ1;H3BRN4;H3BRT1;P80404 AA806200;ABBA01019724;ABBA01019725;ABBA01019726;ABBA01019727;ABBA01019728;ABBA01019729;AC007224;AC012173;AF237813;AK054834;AK096146;AK290501;AK293983;AK310771;AL137454;AMYH01007137;AMYH01007138;BC008990;BC013965;BC015628;BC031413;BC075851;BG749438;BG818982;BI459888;BI602086;BX537362;CH471112;DA228305;DA300126;DA531116;DB443567;DB479117;DC335224;L32961;NG_008432;NM_000663;NM_001127448;NM_020686;S75578;U80226 AAA74449;AAB38510;AAD14176;AAG09758;AAH15628;AAH31413;ABM83995;ABM87322;BAF83190;BAH11640;EAW85207;EAW85208;EAW85209;NP_000654;NP_001120920;NP_065737;P80404 Hs.336768 1341841;1645545;1662951;1681237;1709566;1751779;1759389;1766877;1770246;1770248;1779416;1783436;2134110;5022651 A001T16;D11S2921;D16S3020;G19624;RH65230;RH69040;SHGC-105769;SHGC-151184;SHGC-152297;SHGC-153405;SHGC-156252;SHGC-2882;SHGC-52448;SHGC-81875 FLJ17813;FLJ30272;GABA-AT;GABAT;NPD009 (S)-3-amino-2-methylpropionate transaminase;4-aminobutyrate aminotransferase, mitochondrial;4-aminobutyrate transaminase;GABA aminotransferase;GABA transaminase;GABA transferase;OTTHUMP00000045876;gamma-amino-N-butyrate transaminase;hCG1984265 APPROVED protein-coding ENSG00000183044 23 00661 137150;613163 REVIEWED 2298742 ABCA17P ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene 16 16 16 p13.3 2605352 2690909 + 2330924 2416701 + 2390923 2476700 + 6480464 16968533;14702039;18405356;20210993 650655 ABBA01030258;ABBA01030259;ABBA01030260;ABBA01030261;AC106820;AK095200;AMYH01007057;AMYH01007058;BC042853;DQ266102;DQ660314;NR_003574 Hs.376281 1336622;1732177 D16S3124;D16S663 ABCA17;FLJ37881 APPROVED pseudo ENSG00000238098 32972 PROVISIONAL 1352197 ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13 In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009] 7 7 7 p12.3 48310673 48789160 + 48208389 48657637 + 48211057 48687091 + 6480464 19058789;14702039;12697998;12477932;21145461;23266639;10737800;19944402;20379614;11162594 154664 F5H7B7;H0Y4D2;H7BZI9;H7C0U5;Q86UQ4 AACC02000077;AACC02000078;AACC02000079;AACC02000080;AACC02000081;ABBA01008188;ABBA01008189;ABBA01008190;ABBA01008191;ABBA01008192;ABBA01008193;AC073424;AC073927;AC091770;AC095039;AC232300;AC232312;AF501281;AK091195;AK091270;AK126220;AK128516;AK128570;AK131360;AMYH01017234;AMYH01017235;AY204751;BC062666;BX647560;CH236955;CH471128;CV361876;FJ770081;NG_012385;NM_152701 AAO59914;AAP13576;BAC03623;BAC86492;BAC87475;CAI46091;EAW60990;EAW60991;EAW60992;NP_689914;Q86UQ4 Hs.226568 1339425;1644749;1675011;1722343;1726659;1778398;1786312;1790589;1790591;1790705;2107807;2134952;2144117;2152762;2181084;5014051;5015619;5037552 ABCA13_8175;D11S3114;D7S1570;D7S1793;D7S2367;D7S2712;D8S2278;D8S2279;G17169;G35361;G60240;G62564;GDB:1318480;GDB:1318535;HSC213_(7Gr478mb);HSC214_(7Gr48mb);HSC221_(Gap_322);SHGC-154751 DKFZp313D2411;FLJ16398;FLJ33876;FLJ33951 ATP binding cassette transporter A13;ATP-binding cassette sub-family A member 13;OTTHUMP00000208774 APPROVED protein-coding ENSG00000179869 14638 07422 607807 REVIEWED 1319792 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008] 1 1 p22 94230981 94359293 - 94458393 94586705 - 1580863;1598551;1598552;6480464;6893650;7240710 9295268;9466990;21447403 22427542;22395892;9054934;9202155;19430638;19365591;19365039;19352439;19343046;19074458;19056738;19028736;19015224;18977788;18854780;18649358;18523590;18506364;18334942;18285826;18214793;18024811;17997789;17982420;17932850;17724221;17325136;17286855;16917483;16681420;16604398;16546111;16533065;16303926;15947798;15494742;15375613;15223829;15017103;12888572;12824224;12796258;12754711;12592048;12515255;12442277;12202497;12111378;11973624;11919200;11726554;11594993;11527935;11444963;11385708;11384574;11379881;11346402;11328725;11320094;11017087;10958763;10958761;10880298;10767284;10746567;10711710;10634594;10612508;10466724;10206579;10090887;10075733;9973280;9781034;22312191;19625466;22661473;22706241;9703434;9666097;9503029;9490294;9425888;9288113;9288089;9070931;8894702;8889548;20335603;12673275;19217903;19578016;19948975;19959634;20029649;20128570;20379614;20436469;20661590;20696155;20404325;20647261;20711710;19913121;20591486;20628086;20801516;19265867;20163366;21502573;21546767;23143460;21510770;22589445;21567910;23755510;22247458;21721517;21330655;21911583;21786275;22220722;21834038;22060670;20301590;22449572;23167473;23419329;22863734;22229821;23144455;23362303;22753311;22948568 24 B4DWY6;F5H5R2;F5H6E5;P78363;Q6AI28 AB210040;ABBA01045515;ABBA01045516;ABBA01045517;AC093579;AC105278;AF000148;AF001945;AF533020;AK295818;AK296896;AK301733;AK301764;AK310492;AL712362;AMYH01000805;AMYH01000806;BM686882;CH471097;CR627391;DQ426859;NG_009073;NM_000350;U66691;U88667;Y15635 AAC05632;AAC23915;AAC51144;AAI72262;AAI72565;AAP33155;ABD90529;BAE06122;BAG58635;BAG63198;BAG63224;BAH12450;CAA75729;CAH10486;EAW73056;EAW73057;EAW73058;NP_000341;P78363 Hs.416707 1653635;1654063;1695752;1705764;1714633;1781484;1797234;2166937;2177983;2180259 ABCA4_2633;AL009647;RH119981;SHGC-132421;SHGC-31244;SHGC-31368;SHGC-31446;SHGC-82674;SHGC-83480;WI-22788 ABC10;ABCR;ARMD2;CORD3;DKFZp781N1972;FFM;FLJ17534;RMP;RP19;STGD;STGD1 ATP binding cassette transporter;ATP-binding cassette sub-family A member 4;ATP-binding cassette transporter, retinal-specific;ATP-binding transporter, retina-specific;OTTHUMP00000012366;RIM ABC transporter;RIM protein;photoreceptor rim protein;retina-specific ABC transporter;retinal-specific ATP-binding cassette transporter;stargardt disease protein APPROVED protein-coding ENSG00000198691 34 03408 153800;248200;601691;601718;604116 REVIEWED 1601775 ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008] 19 19 p13.3 991102 1016571 + 1040102 1065571 + 6480464 10873640;19343046;18676680;16908670;15930518;15593299;15203218;14702039;14592415;14570867;12925201;12917409;12111378;11435699;11355874;11095984;11054552;19913121;20628086;21460840;21460841;19170196;19625176;19692168;19721717;8889548;20855565;21173549;21906983;18029348 10347 B3KUJ3;E9PKG5;E9PL63;H0YCN5;H0YF58;Q8IZY2 AB055390;ABBA01002618;ABBA01002619;AC011558;AF140342;AF250238;AF311057;AF311058;AF311059;AF311060;AF311061;AF311062;AF311063;AF311064;AF311065;AF311066;AF311067;AF311068;AF311069;AF311070;AF311071;AF311072;AF311073;AF311074;AF311075;AF311076;AF311077;AF311078;AF311079;AF311080;AF311081;AF311082;AF311083;AF311084;AF311085;AF311086;AF311087;AF311088;AF311089;AF311090;AF311091;AF311092;AF311093;AF311094;AF311095;AF311096;AF311097;AF311098;AF311099;AF311100;AF311101;AF311102;AF328787;AK097344;AK301108;AK310127;AK310909;AL137481;AMYH01009222;AMYH01009223;BU675136;CD629701;CH471139;DC405492;NM_019112 AAF06727;AAF85794;AAI72426;AAK00959;AAN04657;BAB62294;BAG53455;BAG62707;CAB70762;EAW69556;EAW69557;EAW69558;EAW69559;EAW69560;EAW69561;EAW69562;EAW69563;EAW69564;NP_061985;Q8IZY2 Hs.134514 1771802;2107945;2216966;5014053 ABCA7_2692;CNN2_8268;D1S3693;RH70510 ABCA-SSN;ABCX;FLJ40025 ATP-binding cassette sub-family A member 7;OTTHUMP00000236146;autoantigen SS-N;macrophage ABC transporter APPROVED protein-coding ENSG00000064687 37 09255 605414 REVIEWED 1316207 ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008] 16 16 p13.3 2265880 2330748 - 2325879 2390747 - 1580863;1549859;6480464;7240710 15985750 21526180;9027511;8706931;15531465;11718719;19343046;19252731;18603241;18463677;18317237;18246475;18024538;17660803;17597647;17574245;17429902;16968533;16959783;16857811;16415354;16344560;15976379;15465012;15044640;12477932;11940594;20304423;19220077;19861431;19902402;20371530;21214890;20863830;20656946;23166334;22337229;21586796;21873242;22068586;21139048;21890473;23432194;21165348;22145626;22434821;22866751;22800827;22455634 21 H0Y3H2;Q4LE27;Q6P5P9;Q99758 AB070929;AB210044;ABBA01030263;ABBA01030264;ABBA01030265;ABBA01030266;AC005212;AC007162;AC009065;AC098805;AC106820;AK310864;AMYH01007057;BC020724;BC035752;BC062779;BC140895;BC146866;BC151840;BP397501;CH471112;DA109409;DQ073080;NG_011790;NM_001089;U78735;X97187 AAC50967;AAH20724;AAH62779;AAI40896;AAI46867;AAI51841;AAY57325;BAB86781;BAE06126;CAA65825;EAW85515;NP_001080;Q99758 Hs.26630 1732175;1732179;1795256;2151165;5023509;5024543 ABCA3_193;D16S291;D16S662;D16S664;D1S3690;SHGC-61174 ABC-C;ABC3;EST111653;LBM180;MGC166979;MGC72201;SMDP3 ABC transporter 3;ABC-C transporter;ATP-binding cassette sub-family A member 3;ATP-binding cassette transporter 3;OTTHUMP00000159065 APPROVED protein-coding ENSG00000167972 33 03369 601615;610921 REVIEWED 1300038 ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 17 17 q24.3 64754386 64834885 - 67240576 67323323 - 1580863;1549860;6480464 16162093 19343046;18676680;17541169;17289887;16344560;14702039;12504089;12477932;11572484;11435397;8894702;20487690;15870284;19170196;19625176;19692168;22870217;22190034 23461 E7ETD3;K7EJW6;K7EKS9;K7EMV2;K7ENF9;K7EPM3;K7EQ50;Q6N017;Q8WWZ7 AB067475;ABBA01028947;ABBA01028948;AC005495;AC115085;AJ275973;AJ512612;AK056533;AK058170;AK094416;AK096664;AK122803;AK292592;AMYH01008595;AMYH01008596;AMYH01008597;AY028897;BC029426;BC054480;BC070126;BC146819;BF448717;BX640746;BX647447;BX648540;CH471099;DB096625;NM_018672;NM_172232 AAH29426;AAI56257;AAK30022;BAB67781;BAB71208;BAB71700;BAF85281;CAB93535;CAD54757;CAE45856;EAW89080;EAW89081;EAW89082;EAW89083;NP_061142;NP_758424;Q8WWZ7 Hs.731824 1716595;1770125;1797236;2132354;5015861;5020948;5022322;5022588;7185938 ABCA5_2603;D10S16;D11S2560;D5S1597E;G35510;RH121643;RH12485;STS-W32872 ABC13;DKFZp451F117;DKFZp779N2435;EST90625;FLJ16381 ATP-binding cassette A5;ATP-binding cassette sub-family A member 5 APPROVED protein-coding ENSG00000154265 35 09789 612503 REVIEWED 732200 ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 q34 139021507 139043195 - 139901686 139923374 - 1298630;1580863;6480464 8088782 16752360;16344560;15850583;15649702;15491607;15155565;15093135;12560508;12477932;12421765;12107413;10970803;10639163;10470851;1538749;15999530;7766993;12363033;15238223;11178988;11309290;19343046;18336955;17081983;20167577;19913121;20628086;15203218;21072184;21041019;20704561;21707071;21078624;21906983;22086926 20 E7EU84;E9PGB2;F8WBD2;H0Y8C9;H0Y8D6;H0Y8E3;H7C5M6;J3QSS3;Q5SPZ6;Q9BZC7 AB028985;AB177854;ABBA01022736;ABBA01022737;AF178941;AF327657;AF327658;AF327659;AF327660;AF327661;AF327662;AF327663;AF327664;AF327665;AF327666;AF327667;AF327668;AF327669;AF327670;AF327671;AF327672;AF327673;AF327674;AF327675;AF327676;AF327677;AF327678;AF327679;AF327680;AF327681;AF327682;AF327683;AF327684;AF327685;AF327686;AF327687;AF327688;AF327689;AF327690;AF327691;AF327692;AF327693;AF327694;AF327695;AF327696;AF327697;AF327698;AF327699;AF327700;AF327701;AF327702;AF327703;AF327704;AF327705;AK295489;AK308738;AL162060;AL525193;AL807752;AL833967;AMYH01021882;AMYH01021883;AMYH01021884;AMYH01021885;AMYH01021886;BC008755;BC029282;BC064542;BC090860;BC109244;BC144588;BC144589;BE273611;BF516223;BF983101;BI195329;BM314339;BM474929;BM921242;BM921499;CD612070;CD676110;CH471090;DB168116;JF279959;NG_011789;NM_001606;NM_212533;U18235;U18236 AAA84436;AAA84437;AAG09372;AAH08755;AAH64542;AAI09245;AAI72448;AAK14334;AAK14335;BAA83014;BAD66832;BAG58411;CAB82398;EAW88331;EAW88332;EAW88333;NP_001597;NP_997698;Q9BZC7 Hs.421202 1697026;2163150;5106563;5108420;5492641 D11S949E;RH101989;RH71205;STS-X78031;UniSTS:481875 ABC2;MGC129761 ATP-binding cassette 2;ATP-binding cassette sub-family A member 2;ATP-binding cassette transporter 2;ATP-binding cassette, sub-family A, member 2;OTTHUMP00000022644;OTTHUMP00000022649 APPROVED protein-coding ENSG00000107331 32 08967 600047 REVIEWED 1345233 ABCB10P1 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 1 15 15 q11.2 20243548 20244000 - 22689409 22693186 - 10922475;7766993 56476 ABBA01210948;AC116165;AF218417;AMYH01006367;NG_005041 ABCB10P;ABCB10P2;M-ABC2;MABC2 pseudo 14114 INFERRED 1319094 ABCA6 ATP-binding cassette, sub-family A (ABC1), member 6 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008] 17 17 17 q24.3 63646675 63709544 - 64586442 64649610 - 67074847 67138015 - 1580863;6480464 11435397;19343046;18676680;15489334;14702039;12477932;11478798;10639163;8894702;19170196;19625176;19692168;20379614 23460 Q8N139 ABBA01028949;ABBA01028950;AC005495;AC005922;AF373290;AF373328;AK097296;AK125487;AK308431;AMYH01008594;AY028898;BC029852;BC070125;BC125231;BC125232;NM_080284;U66680 AAH70125;AAI25232;AAI25233;AAI66682;AAK30023;AAM77557;AAM77558;BAC04994;BAG54204;NP_525023;Q8N139 Hs.709514 1335934;1723039;2216964;5037552;7186385 ABCA6_3032;D17S940;D8S2279;G60470 EST155051;FLJ43498 ABC transporter ABCA6;ATP-binding cassette A6;ATP-binding cassette sub-family A member 6 APPROVED protein-coding ENSG00000154262 36 10622 612504 REVIEWED 3516544 ABCB10P3 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 3 15 15 q13.1 26318241 26323793 + 28648011 28650177 + 728248 AC091304;AC138747;AMYH01006497;NG_022122 pseudo 31129 INFERRED 3418289 ABCB10P4 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 4 15 15 q13.1 26550793 26556375 - 28751773 28753939 - 100132289 AC138749;AMYH01006497;NG_022102 pseudo 31130 INFERRED 1316041 ABCA8 ATP-binding cassette, sub-family A (ABC1), member 8 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The function of this protein has not yet been determined. [provided by RefSeq, Jul 2008] 17 17 17 q24 63435265 63523392 - 64375025 64463128 - 66863430 66951533 - 1580863;6480464 12379217;19343046;15489334;14702039;12477932;12111378;11329013;10048485;8889548;23560799;21707071;20686565 10351 C9JQE6;K7ELK9;O94911 AB020629;ABBA01028951;ABBA01028952;AC005922;AC015844;AK090894;AK295876;AK304286;AK304360;AMYH01008593;BC010392;BC024003;BC037309;BC047765;BC094689;BC130280;BC143971;BC143972;BG210966;BM665457;BM707283;CH471099;NM_007168 AAH24003;AAH37309;AAH47765;AAH94689;AAI30281;BAA74845;BAG58673;BAG65144;BAG65201;EAW89068;EAW89069;NP_009099;O94911 Hs.58351 1700728;1709104;1713233;1760079;1795258;1797238;2115867;2170235;5014051 ABCA8_1040;ABCA8_2250;D8S2278;RH103989;RH120606;RH46167;RH78733;SHGC-107731;SHGC-85710 KIAA0822;MGC163152 ATP-binding cassette sub-family A member 8 APPROVED protein-coding ENSG00000141338 38 09790 612505 REVIEWED 1314254 ABCA9 ATP-binding cassette, sub-family A (ABC1), member 9 This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008] 17 17 17 q24.2 63542632 63628962 - 64482368 64568731 - 66970773 67057136 - 1580863;6480464 15489334;14702039;12477932;12150964;11435397;8894702;8889549;20877624 10350 H0Y4U7;K7EJJ0;Q8IUA7 ABBA01028950;ABBA01028951;AC005922;AF423307;AF423308;AF423309;AF423310;AF423311;AF423312;AF423313;AF423314;AF423315;AF423316;AF423317;AF423318;AF423320;AF423321;AF423322;AF423323;AF423324;AF423325;AF423326;AF423327;AF423328;AF423329;AF423330;AF423331;AF423332;AF423333;AF423334;AF423335;AF423336;AF423337;AF423338;AF423339;AF423340;AF423341;AF423342;AF423343;AF423344;AF423345;AF423346;AK057068;AK074491;AK122687;AL833712;AMYH01008594;AW130042;AY028899;BC062472;BU072174;BU076154;CH471099;CR627382;NM_080283;W84726 AAH62472;AAI67781;AAK30024;AAN32751;AAN32752;BAB71359;BAC11021;CAH10479;EAW89071;EAW89072;EAW89073;EAW89074;NP_525022;Q8IUA7 Hs.131686 1669722;1672695;1698692;1736632;2115867 D17S1474E;RH102906;RH46167;RH48279;SHGC-63484 DKFZp686F2450;EST640918;MGC75415 ATP-binding cassette A9;ATP-binding cassette sub-family A member 9;OTTHUMP00000179122;OTTHUMP00000179123 APPROVED protein-coding ENSG00000154258 39 12401 612507 REVIEWED 1322567 ABCB10 ATP-binding cassette, sub-family B (MDR/TAP), member 10 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The function of this mitochondrial protein is unknown. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 202920623 202962354 - 227718953 227761065 - 229652329 229694442 - 1580863;6480464 10922475;10748049;19343046;19151771;15252450;15215243;12477932;11829140;7766993;20877624;22939629;21139048;21890473;19322201;22085049 23456 Q9BXW0;Q9NRK6 AB013380;ABBA01009824;ABBA01009825;AF216833;AF277184;AK172794;AL121990;AMYH01001810;BC064930;CH471098;DQ786241;NM_012089;U18237 AAA84438;AAF78198;AAH64930;AAK07543;BAB20265;BAD18770;EAW69901;NP_036221;Q9NRK6 Hs.17614 1669780;1689041;1795260;1797240;2120038;5111474 A007G40;ABCB10_1042;ABCB10_2563;RH64714;RH99044;SHGC-33783 EST20237;M-ABC2;MTABC2 ABC transporter 10 protein;ATP-binding cassette sub-family B member 10, mitochondrial;ATP-binding cassette transporter 10;OTTHUMP00000037475;mitochondrial ATP-binding cassette 2 APPROVED protein-coding ENSG00000135776 41 09263 605454 REVIEWED 730944 ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008] 2 2 q24 169487695 169596079 - 169779449 169887833 - 1580863;1598583;1598580;1598571;1598596;625722;2316977;1598579;6480464;6907045;7240710 9806540;15853769;12702498;9828229;12135489;17353665;15901796 19408031;19343046;19101985;19060910;18987030;18692205;18676680;18668439;18660489;18521185;18395098;18270374;18176959;17622941;17264802;16941683;16890614;16871584;16763017;16749857;16290310;16039748;15791618;15471871;15300568;15159385;15077010;14999697;14762791;12825874;11829140;11815775;11783115;11745042;11600213;11495894;11172067;10579978;9545351;20414253;20028269;20447715;20683201;20147439;19845854;19913121;20628086;20723035;19170196;19571440;19625176;19669124;19692168;19821532;19833092;19888660;19898482;19937311;20010382;20163776;20232290;20379614;20453000;20702406;20855565;20858683;20883210;21386085;20857261;21490445;21691112;21766090;21811948;22161577;21139048;22098322;21909109;22001757;20301474;21988832;22673116;22681771 8647 H7C486;O95342 AB012959;ABBA01004960;ABBA01004961;AC008177;AC069137;AC093723;AF091582;AF136523;AK302540;AK303050;AMYH01011242;CH471058;CS016617;NG_007374;NM_003742 AAC77455;AAD28285;AAY24100;AAY24305;BAA88711;BAG63812;BAG64170;CAI54162;EAX11285;EAX11286;EAX11287;NP_003733;O95342 Hs.658439 1646882;1706866;1715589;1795262;2121616;2191485 ABCB11_675;D2S2060;MARC_23799-23800:1027535309:1;RH120938;RH66728;SHGC-80916 ABC16;BRIC2;BSEP;PFIC-2;PFIC2;PGY4;SPGP ABC member 16, MDR/TAP subfamily;ATP-binding cassette sub-family B member 11;OTTHUMP00000204927;bile salt export pump;progressive familial intrahepatic cholestasis 2;sister p-glycoprotein APPROVED protein-coding ENSG00000073734 42 04436 601847;603201;605479 REVIEWED 736946 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008] 7 7 q21.1 86869297 86942955 - 87031361 87105019 - 1598588;1598589;1300324;1300325;1358123;6480464;6907045;7240710 12055592;11680581;9419367;8106172;12433976 7912658;19408031;19343046;19266607;19261551;19185004;19018976;18781607;18671305;18660489;18482588;18083082;17786139;17726488;17562004;17523162;17264802;17187437;16891356;16890614;16857572;16854530;16763017;16696816;15258199;15159385;15077010;14999697;14527955;12891548;12853948;12746424;12690205;12477932;12388190;12381474;12206920;11745043;11313316;10767346;9923886;8898203;7912266;7893760;7734012;3477522;2906314;2892668;2002063;9542318;19913121;20628086;20683201;18231753;20855565;21072184;19467940;19584064;19593667;19998509;20163776;20453000;20422496;20414253;19840247;21119540;22331132;23261441;21989363;21705081;21638239;21161147;22098322;22184139;21988832;22982378;19794400;22343912;22387667 5244 E7EQI1;H7C0M2;P21439 AACC02000015;ABBA01045868;AC005045;AC005068;AC006154;AMYH01017669;BC020618;BC042531;CH236949;CH471091;EF034088;M23234;NG_007118;NM_000443;NM_018849;NM_018850;X06181;Z35284;Z35286 AAA36207;AAD05023;AAH20618;AAH42531;ABJ53424;CAA29547;CAA84542;CAA84543;EAL24174;EAL24175;EAL24176;EAW76944;EAW76945;EAW76946;EAW76947;EAW76948;EAW76949;EAW76950;EAW76951;EAW76952;NP_000434;NP_061337;NP_061338;P21439 Hs.654403 1651499;1706842;1735706;1772344;1772346;1847953;2131050;2131052 A005R35;A006B20;D7S2163E;G20448;G20675;PGY3;RH17678;SHGC-80903 ABC21;GBD1;ICP3;MDR2;MDR2/3;MDR3;PFIC-3;PGY3 ATP-binding cassette sub-family B member 4;OTTHUMP00000161613;OTTHUMP00000206137;OTTHUMP00000210458;P glycoprotein 3/multiple drug resistance 3;P-glycoprotein 3;P-glycoprotein-3/multiple drug resistance-3;multidrug resistance protein 3;multiple drug resistance 3 APPROVED protein-coding ENSG00000005471 45 01371 147480;171060;600803;602347;614972 REVIEWED 730823 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. 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876;20496015;20504240;20505666;20512145;20526235;20528170;20531015;20532504;20533057;20488228;20699370;19913121;20533270;20554493;20563569;20567810;20571034;20578904;20587910;20602612;20602615;20605481;20625352;20625815;20627363;20627697;20628086;20634891;20638924;20660695;20662624;20664232;20679960;20696882;20707787;20712525;20716514;20720558;20801494;20801498;19483282;20492723;20510202;22277678;23244145;23465077;19950199;19399413;19693666;20125118;20856196;21143841;18231753;20540746;20955690;20209493;20658178;20815915;20558393;20430184;20037778;20615085;19958644;20056007;19615260;20525557;20624637;16712791;20372866;20555295;20834157;21042729;21103977;21183698;21103972;21247447;21094796;21182301;21321273;21321274;20855224;21028964;21434577;20438811;20869436;20933082;20980337;20369487;20510079;20702488;21308736;19954620;21029698;21094057;21186402;22160574;22306099;22318545;22369694;22394004;21154157;19622290;22462752;22691950;22910404;22932088;23035695;22751348;22810051;22941809;23064017;22664042;22823957;20556576;20929136;21375937;21698374;22152775;22209339;22614869;22788927;22901208;23073467;23134497;20921883;21163067;21525574;21630164;21718764;21704032;21388909;21237140;21380926;21544031;16230402;21106724;21389634;21436775;21336967;21350189;21518320;20127181;21868524;21508398;19549365;20679500;21493161;21575142;19224656;19840446;21366702;21392722;21445698;21478475;21636342;21518489;21520403;21806386;21806387;21420937;21517853;21463115;21599592;22028352;20501388;21243282;21589866;20945045;22104130;22902647;22927901;23107770;23117931;23210244;23169446;21781437;22800348;23178631;20416158;21185600;21325069;21829205;21917707;20716130;21148022;21840870;21039333;21218380;21530324;21705081;21857092;21937435;21784846;21888455;20460432;20640574;21743379;21839244;21721528;21553324;21707071;21827803;21292509;21988832;22521463;22909202;23000965;23053935;23085402;22683872;22972536;23152970;23188198;23328208;23364483;22473764;22796246;21173786;22258826;22296372;20193114;21520073;21826689;21851199;21987299;21991360;22001987;22033938;22062654;22623266;22798502;22814029;22819965;22307172;22396794;22409848;20862566;21460357;21566283;21619790;21918980;22194207;22223515;22344233;22358301;22358302;22484209;22647192;23047249;23131698;23133566;22845311;23307242;23339364;23349819;23354914;23542036;22088099;22705826;22889411;17941052;22239287;22886152;23069916;23317199;23556337;23557865;23786015;22761669;23050008;23261390;23361102;23469685;22591177;22835948;23109454;22395309;20604570;20701289;23385102;23406767;23504525;22946104;23158821;18574677;19794400;21826700;22040961;22177087;22311042;22526155;22543673;22610055;22661185;22680342;22739506;22842366;23034269;23082557;23163129;23279665;23562850;22700974;22819074;22906996;23402298;21947347;22883199;22922069;23240156;23216707;23056288;23146479;23272163;23280016 5243 A4D1D2;B5AK60;E7EWT8;P08183 AA776371;AACC02000015;AB208970;ABBA01045865;ABBA01045866;ABBA01045867;ABBA01045868;AC002457;AC005068;AF016534;AF016535;AF345625;AK290159;AK308467;AMYH01017669;AY425005;AY425006;AY425007;AY910577;BC130424;BQ720763;BQ882401;BX509020;CB164676;CH236949;CH471091;EU852583;EU854148;HQ291612;M14758;M29422;M29423;M29424;M29425;M29426;M29427;M29428;M29429;M29430;M29431;M29432;M29433;M29434;M29435;M29436;M29437;M29438;M29439;M29440;M29441;M29442;M29443;M29444;M29445;M29446;M29447;M37724;M37725;NG_011513;NM_000927;X58723 AAA59575;AAA59576;AAA88047;AAA88048;AAB69423;AAB70218;AAI30425;AAM49149;AAR83914;AAR91621;AAR91622;AAW82430;ACF94687;ACF94688;AEC13147;BAD92207;BAF82848;CAA41558;CAL38230;EAL24173;EAW76940;EAW76941;EAW76942;EAW76943;NP_000918;P08183 Hs.489033;Hs.737655 1648772;1651499;1704274;1722515;1742285;1776871;1786320;1797242;2138924;2160534;2176440;2177344;2185668 ABCB1_2602;D7S2326;D7S2414;G60182;GDB:1317232;GDB:1317328;GDB:194851;GDB:6028578;PGY1;RH17678;SHGC-154970;SHGC-56130;SHGC-83275 ABC20;CD243;CLCS;GP170;MDR1;MGC163296;P-GP;PGY1 ATP-binding cassette sub-family B member 1;ATP-binding cassette, subfamily B, member 1;OTTHUMP00000205790;P-glycoprotein 1;colchicin sensitivity;doxorubicin resistance;multidrug resistance protein 1 APPROVED protein-coding ENSG00000085563 40 01370 120080;171050;612244 REVIEWED 1351002 ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008] 7 7 p21.1 20653741 20761821 + 20655245 20796637 + 6480464 20339536;19477512;18202660;17661346;15899824;15760339;15489334;15205344;12960149;12690205;12477932;8894702;9542318;21652540;20068175;21212411;20682318;15488952;20729912;20950786;21298007;22555176;22865455;22784549;22306008;22393060;22044138;23770371;23259602 340273 H7C165;Q5I5Q7 AACC02000007;AB353947;ABBA01056675;ABBA01056676;AC002486;AC005060;AF319622;AF399931;AI334015;AK127141;AL040763;AMYH01017103;AY090613;AY230001;AY234788;AY785909;AY851364;AY851365;BC044248;BC104894;BC104920;BC110370;BM471690;BX452500;BX537763;CH236948;CH471073;GU437216;GU437217;H99394;NM_001163941;NM_001163942;NM_001163993;NM_178559 AAI04895;AAI04921;AAM09027;AAN76500;AAO73470;AAP55848;AAQ03033;AAW31629;AAW31630;AAX11382;ADV32636;ADV32637;BAF75364;EAL24273;EAL24274;EAW93726;EAW93727;NP_001157413;NP_001157414;NP_001157465;NP_848654;Q2M3G0 Hs.404102 1335436;1357237;1644523;1644641;1661812;1662580;1663799;1696020;1696840;1698562;1700314;1707262;1752745;2133396;2134029;2138910;5015619;5015861;5024039;5037552;5109281;7185938 D10S16;D11S3114;D16S325;D1S1425;D7S1802;D7S2210;D8S2279;G49164;GDB:1317506;GDB:1318030;RH102833;RH103777;RH68947;RH78896;RH78897;SHGC-106581;SHGC-53299;SHGC-79232;SHGC-83158;STS-H98780;STS-N32998 ABCB5alpha;ABCB5beta;EST422562 ABCB5 P-gp;ATP-binding cassette protein;ATP-binding cassette sub-family B member 5;OTTHUMP00000120018;OTTHUMP00000201813;OTTHUMP00000201814;OTTHUMP00000201940;P-glycoprotein ABCB5 APPROVED protein-coding ENSG00000004846 46 611785 VALIDATED 731735 ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008] 2 2 q36 219782738 219791916 - 220074488 220083712 - 1580863;1300326;6480464 10837493 22655043;11977179;11955620;19343046;18279659;17661442;17006453;16791740;15489334;14702039;12477932;9288777;9110174;8894702;8619474;20823549;20877624;21199866;22939629;18624398;21903422;21987572;20972266;21139048;21890473;21906983;22226084;21849266;22246506;23180570;22761424 10058 H7BXK9;H7C049;H7C1R6;H7C245;H7C3Z0;Q9NP58 AB039371;ABBA01023847;AC068946;AF070598;AF076775;AF308472;AF308473;AJ289233;AK026067;AK057026;AK172812;AK303230;AL560811;AMYH01011505;AW664349;BC000559;BC043423;CH471063;NG_032110;NM_005689;U66673 AAC28653;AAF75107;AAG33617;AAG33618;AAH00559;AAH43423;ABM82802;ABM85989;BAA96733;BAB71347;BAD18782;BAG64317;CAB95766;EAW70694;EAW70695;EAW70696;EAW70697;EAW70698;EAW70699;EAW70700;EAW70701;EAW70702;EAW70703;EAW70704;EAW70705;NP_005680;Q9NP58 Hs.107911 1651365;1674240;1699648;1712709;1850441;1856492;2123571;2154297 A002Q44;D2S2921;RH103428;RH121051;RH18248;RH68357;WI-19704;WI-20003 ABC;ABC14;EST45597;FLJ22414;LAN;MCOPCB7;MTABC3;PRP;umat ATP-binding cassette half-transporter;ATP-binding cassette sub-family B member 6, mitochondrial;OTTHUMP00000164171;OTTHUMP00000206108;P-glycoprotein-related protein;mitochondrial ABC transporter 3;mt-ABC transporter 3;ubiquitously-expressed mammalian ABC half transporter APPROVED protein-coding ENSG00000115657 47 09261 111600;605452;614497 REVIEWED 1351480 ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012] X X q13.3 74189830 74292857 - 74273105 74376132 - 1298634;1598600;1580863;6480464;7240710 9143506;10196363 12480705;9621516;19343046;18398482;15772651;15489334;14702039;12477932;11843825;11050011;11042152;9883897;8894702;17006453;18029348;20301496;21832049;22939629;21380928;20186120;15146197;15342556;22398176;21139048;21726808;21987572;23070040 22 B4DGL8;E9PJR8;E9PNQ5;G3XAC4;O75027;Q7Z3K5 ABBA01059486;ABBA01059487;ABBA01059488;ABBA01059489;ABBA01059490;ABBA01059491;ABBA01059492;ABBA01059493;ABBA01059494;ABBA01059495;ABBA01059496;ABBA01059497;AF038950;AF078777;AF133659;AF241887;AK001418;AK294657;AK307414;AL359545;AL360179;AL590232;AMYH01022615;BC006323;BG722908;BP228998;BQ630948;BT009918;BX537833;CH471104;CN411218;NG_007980;NM_001271696;NM_001271697;NM_001271698;NM_001271699;NM_004299;U66679 AAC39865;AAD33045;AAD47141;AAH06323;AAK20173;AAP88920;ABM81618;ABW03277;BAG50910;BAG57829;CAD97847;EAW98632;EAW98633;EAW98634;EAW98635;EAW98636;EAW98637;NP_001258625;NP_001258626;NP_001258627;NP_001258628;NP_004290;O75027 Hs.370480 1698120;1702556;2171462;2216968 ABCB7_2717;RH102593;UniSTS:99415;WI-11286 ABC7;ASAT;Atm1p;EST140535 ABC transporter 7 protein;ATP-binding cassette 7;ATP-binding cassette sub-family B member 7, mitochondrial;ATP-binding cassette transporter 7;OTTHUMP00000023578;OTTHUMP00000023579;OTTHUMP00000235628;OTTHUMP00000235673 APPROVED protein-coding ENSG00000131269 48 02137 300135;301310 REVIEWED 1316973 ABCB8 ATP-binding cassette, sub-family B (MDR/TAP), member 8 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. The function of this half-transporter has not yet been determined; however, it may involve the compartmentalization and transport of heme, as well as peptides, from the mitochondria to the nucleus and cytosol. This protein may also play a role in the transport of phospholipids into mitochondrial membranes. [provided by RefSeq, Jul 2008] 7 7 7 q36 145282807 145302178 + 150356443 150375802 + 150725510 150744869 + 1580863;6480464 9878413;19343046;19151771;19147539;16344560;14702039;12477932;11829140;8894702;8125298;16169070;20379614;20877624;19913121;20628086;22939629;18029348;21906983;21963094;23182705 11194 A5D8W3;C9JA03;C9JTY4;C9JYI3;E7ENE8;F2Z2Z1;F2Z3G8;F8WC43;G3XAP3;H7C5K9;Q9NUT2 AACC02000108;ABBA01035167;AC010973;AF047690;AF086382;AK002018;AK024401;AK094005;AK094636;AK126885;AK128129;AK222911;AK294344;AK310796;AK314721;AL117497;AMYH01018142;BC141814;BC141836;BC151235;CH471173;DA147595;DB540313;NM_007188 AAD15748;AAI41815;AAI41837;AAI43081;AAI46830;AAI51236;BAA92038;BAC04392;BAD96631;BAG37265;BAG51294;BAG52795;BAG57613;EAW54056;EAW54057;EAW54058;EAW54059;EAW54060;EAW54061;EAW54062;EAW54063;EAW54064;EAW54065;EAW54066;NP_009119;Q9NUT2 Hs.647118 1853377;2144630;2147356;2191161;5015619;5022578;5024039;5037552;5113208 D11S3114;D16S325;D1S1423;D7S1964;D8S2279;GDB:4585109;MARC_15633-15634:1017248647:1;RH92393;SHGC-34711 EST328128;M-ABC1;MABC1 ATP-binding cassette sub-family B member 8, mitochondrial;OTTHUMP00000213259;OTTHUMP00000213261;OTTHUMP00000213264;mitochondrial ABC protein;mitochondrial ATP-binding cassette 1 APPROVED protein-coding ENSG00000197150 49 10400 605464 REVIEWED 1350146 ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. In addition, a SNP in this gene is responsible for determination of human earwax type. This gene and family member ABCC12 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] 16 16 q12.1 46758323 46826589 - 48200822 48269088 - 1580863;6480464 12764137;19383836;19336370;19240178;17095618;16444273;16359813;15537867;15331440;15277376;12477932;12133003;12076558;11803621;11802779;11688999;11591886;11483364;11435397;21165769;19557017;19625231;19644513;19650936;19710689;21182469;20718756;21187511;20937735;21423094;22256739;21782178;23288347;23350374 85320 F5H410;H3BRJ2;Q96J66 ABBA01000918;AC007600;AC096996;AF352582;AF367202;AF411579;AK301547;AL117406;AMYH01007646;AY040219;BC039085;CH471092;NG_011522;NM_032583;NM_033151;NM_145186 AAI52903;AAI57085;AAK19755;AAK58869;AAK76739;AAL99902;BAG63044;EAW82715;EAW82716;EAW82717;EAW82718;EAW82719;EAW82720;EAW82721;EAW82722;NP_115972;NP_149163;NP_660187;Q96J66 Hs.652267 1339376;1686995;2110237 ABCC11_2869;D16S3044;RH74962 EWWD;MRP8;WW ATP-binding cassette protein C11;ATP-binding cassette sub-family C member 11;ATP-binding cassette transporter MRP8;ATP-binding cassette transporter sub-family C member 11;OTTHUMP00000164191;OTTHUMP00000164192;multi-resistance protein 8;multidrug resistance-associated protein 8 APPROVED protein-coding ENSG00000121270 14639 06127 117800;607040 REVIEWED 1344624 ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012] 16 16 p13.1 15950935 16144432 + 16043434 16236931 + 1580863;631914;5128827;5128824;5128825;5128826;5128828;6480464;6484113 8662992;12930913;20487524;18931056;17072643;11238654 21793937;22188235;1360704;15999530;19349540;19343046;19291917;19285030;19235593;19214144;19214143;19165709;19129072;19107762;19067123;19065772;19063607;18924151;18851956;18838379;18799096;18775981;18713069;18702307;18690847;18680196;18621020;18439156;18400250;18381794;18336795;18316614;18280247;18256692;18204073;18200595;18056276;18038766;17980150;17925548;17890284;17875533;17852453;17710652;17606722;17596751;17494643;17445775;17350479;17336270;17295059;17264072;17215852;17203221;17050692;17033200;16960658;16946557;16914551;16883578;16821592;16784241;16697012;16621983;16565074;16551273;16547352;16481346;16464259;16410721;16330681;16293801;16278376;16230346;16156793;16041243;16041239;16014004;15856298;15810950;15628876;15623154;15472893;15355964;15269137;15260484;15252017;15245331;15208328;15161912;15155846;14984901;14737110;14722114;14580377;14578045;14561746;12960109;12954620;12954082;12925771;12897808;12890151;12882957;12856092;12783859;12653207;12646196;12628490;12576456;12486126;12458196;12388627;12388549;12235150;12186871;12163030;12146977;12135486;12119019;12084474;12042670;12034727;12018890;11996108;11995968;11986944;11937269;11925441;11820781;11809686;11783953;11771758;11755464;11721885;11689020;11600213;11561076;11557130;11469806;11465409;11439001;11278867;11278596;11266082;11139250;11114332;10950878;10835642;10811882;10493829;10064732;9485377;9441948;9344662;9334225;9295302;8831715;8649356;8098549;7916458;16395283;22182917;22293538;21177244;19622290;18711657;19019175;19393132;19438741;19513507;19552816;19636555;19672972;19687781;19723058;19851296;19883630;19885582;19897579;19924384;19940267;19948975;19956635;19969351;20004175;20093746;20198315;20200426;20233511;20234362;20453000;20520284;20532504;2753893;21090806;18029348;20922799;21143841;20109555;20388502;20604746;19875192;19913121;20530282;20628086;20689807;19969624;21317832;21182225;22511347;22695718;22939629;22664042;21315686;21609321;22899102;23178537;22086004;22787275;21435954;21799180;22232552;21520403;21903422;22037714;22084240;22272278;21139048;21890473;21906983;22143792;21956451;21987572;21736601;22353810;21701864;21929509;22117969;22798502;22026728;22445357;21963094;21988832;22871336;22982023;23580527;20051532;22053931 4363 I3L2H9;I3L4X2;Q9UQ99 AB209120;ABBA01048910;ABBA01048911;ABBA01048912;ABBA01048913;ABBA01048914;ABBA01048915;ABBA01048916;ABBA01048917;ABBA01048918;ABBA01048919;ABBA01048920;ABBA01048921;AC003026;AC025778;AC130651;AC136624;AF022853;AJ003198;AK311015;AMYH01007182;BC001636;BX648866;CH471226;CR749835;EF419769;HQ917064;HQ917065;HQ917066;HQ917067;L05628;NG_028268;NM_004996;U91318;X78338 AAB46616;AAB83979;AAB83980;AAB83981;AAB83982;AAB83983;AAC05808;AAC15784;AAH01636;AAI56354;AAI57106;ABN79590;AEK86268;AEK86269;AEK86270;AEK86271;BAD92357;CAH18691;EAW53936;EAW53937;EAW53938;EAW53939;EAW53940;EAW53941;EAW53942;EAW53943;EAW53944;EAW53945;EAW53946;EAW53947;EAW53948;EAW53949;NP_004987;P33527 Hs.391464 1680144;1684606;1728619;1763767;1769980;1795268;2126995;2128267;2141987;2144125 ABCC1_679;D16S2586E;G63601;RH64912;RH65306;RH79017;SHGC-12494;SHGC-147442;SHGC-5825;SHGC-60500 ABC29;ABCC;DKFZp686N04233;DKFZp781G125;GS-X;MRP;MRP1 ATP-binding cassette sub-family C member 1;ATP-binding cassette transporter variant ABCC1delta-ex13;ATP-binding cassette transporter variant ABCC1delta-ex13&14;ATP-binding cassette transporter variant ABCC1delta-ex25;ATP-binding cassette transporter variant ABCC1delta-ex25&26;LTC4 transporter;OTTHUMP00000045904;leukotriene C(4) transporter;multidrug resistance associated protein 1;multidrug resistance protein;multidrug resistance-associated protein 1;multiple drug resistance protein 1;multiple drug resistance-associated protein APPROVED protein-coding ENSG00000103222 51 01153 158343 REVIEWED 733003 ABCB9 ATP-binding cassette, sub-family B (MDR/TAP), member 9 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This family member functions in the translocation of peptides from the cytosol into the lysosomal lumen. Alternative splicing of this gene results in distinct isoforms which are likely to have different substrate specificities. [provided by RefSeq, Jul 2011] 12 12 q24 121979492 122025705 - 123405498 123451056 - 1580863;6480464 16344560;10748049;19343046;18952056;18434309;18175933;17977821;16554024;15863492;15491607;15489334;15302935;14702039;13679046;12477932;11829140;11011155;10819331;8894702;8889548;20377823;15577206;21507922;21212514;15518576;16525794;21194361;21906983;22641697;23382691 23457 F5GX63;F5GX86;F5GXZ5;F5GYI2;F5H0G0;F5H4Y2;F5H5F9;F5H5I5;F5H5Q0;F5H7U2;H7C478;Q6P2Q0;Q9NP78 AB040953;AB045381;AB112582;AB112583;AB177852;ABBA01060439;ABBA01060440;AC026362;AC027290;AF216494;AK027624;AK074738;AK294225;AK304295;AL833963;AMYH01004835;BC017348;BC064384;CA503047;CH471054;CS071961;CS071963;DA796102;NM_001243013;NM_001243014;NM_019624;NM_019625;NM_203444;U66676 AAF89993;AAH17348;AAH64384;BAA96044;BAA97989;BAC11171;BAC98409;BAC98410;BAD66830;BAG51360;BAG57529;BAG65152;CAD38811;CAI93387;CAI93388;EAW98353;EAW98354;EAW98355;EAW98356;EAW98357;EAW98358;EAW98359;EAW98360;EAW98361;EAW98362;EAW98363;NP_001229942;NP_001229943;NP_062570;NP_062571;NP_982269;Q9NP78 Hs.511951 1762317;1766435;1771921;1773958;1795264;2161609;2176072;5016478;5016675;5107535;5109281 A004P27;ABCB9_677;D1S1425;GDB:434012;HSC1CH052;RH78153;RH79740;SGC30324;SHGC-146164;SHGC-149768;STS-AA022496 EST122234;KIAA1520;TAPL;hABCB9 ABC transporter 9 protein;ATP-binding cassette sub-family B member 9;ATP-binding cassette transporter 9;OTTHUMP00000239382;OTTHUMP00000239383;OTTHUMP00000239384;OTTHUMP00000239385;TAP-like protein;tap-like abc transporter APPROVED protein-coding ENSG00000150967 50 09262 605453 REVIEWED 1315462 ABCC10 ATP-binding cassette, sub-family C (CFTR/MRP), member 10 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This ABC full-transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2010] 6 6 p21.1 43507467 43526141 + 43395292 43418163 + 1358123;6480464 12433976 19343046;19082471;17203221;16034073;15256465;14702039;14574404;12566991;12527806;12477932;11146224;8894702;18974132;19118001;19150344;19720054;19841739;21628669;21890473;21906983;22082652 89845 D6R9B3;H0Y904;Q5T3U5 ABBA01050683;AK000002;AK024446;AL122095;AL133613;AL359813;AMYH01016313;AY032599;BC024103;CH471081;NM_001198934;NM_033450 AAH24103;AAI66699;AAK39642;BAA92227;BAB15736;CAB59263;CAB63742;EAX04180;EAX04181;EAX04182;EAX04183;EAX04184;EAX04185;NP_001185863;NP_258261;Q5T3U5 Hs.55879 1797244;2190963 ABCC10_2608;MARC_12101-12102:1004643664:1 EST182763;MRP7;SIMRP7 ATP-binding cassette sub-family C member 10;OTTHUMP00000016438;OTTHUMP00000016441;multidrug resistance-associated protein 7 APPROVED protein-coding ENSG00000124574 52 07623 612509 REVIEWED 1342698 ABCC12 ATP-binding cassette, sub-family C (CFTR/MRP), member 12 This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast cancer. [provided by RefSeq, Jul 2008] 16 16 16 q12.1 32624011 32687808 - 46674385 46738182 - 48116884 48180681 - 1580863;6480464 16344560;15489334;14965249;12477932;12011458;11688999;11483364;11435397;20877624;19615732;20379614 94160 B4DYN2;E9PHY2;Q96J65 ABBA01000918;AC096996;AF395908;AF395909;AF411577;AF411578;AK122635;AK127951;AK302520;AK307109;AK308599;AMYH01007646;AY040220;AY196326;BC036378;CH471092;DA096073;NM_033226 AAI46311;AAI48750;AAK76740;AAL79528;AAL79529;AAL99900;AAL99901;AAO40749;BAG53632;BAG63794;EAW82705;EAW82706;EAW82707;EAW82708;EAW82709;EAW82710;EAW82711;EAW82712;EAW82713;EAW82714;NP_150229;Q96J65 Hs.410111 1738843;1795266 ABCC12_1424;D16S2894 MGC27071;MRP9 ATP-binding cassette sub-family C member 12;ATP-binding cassette transporter sub-family C member 12;OTTHUMP00000164186;OTTHUMP00000236234;OTTHUMP00000236236;OTTHUMP00000236237;OTTHUMP00000236238;multidrug resistance-associated protein 9 APPROVED protein-coding ENSG00000140798 14640 06128 607041 REVIEWED 6481332 ABCC5-AS1 ABCC5 antisense RNA 1 3 183724126 183729207 + 100873982 ABBA01058465;ABBA01058466;AC068644;AMYH01013709;BE549568;NR_046570 Hs.570696 APPROVED miscrna ENSG00000223882 40055 VALIDATED 1352103 ABCC13 ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene This gene is a member of the superfamily of genes encoding ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This family member is part of the MRP subfamily, which is involved in multi-drug resistance, but the human locus is now thought to be a pseudogene incapable of encoding a functional ABC protein. Alternative splicing results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 21 21 21 q11.2 803367 830950 + 14567991 14595578 + 15646120 15673707 + 1580863;6480464 16124856;15203202;14759258;12909339;12445816;12036298;10830953;8894702;18668432;10049586;12477932 150000 Q9NSE7 ABBA01057083;AF130358;AF418600;AF518320;AF518321;AMYH01012140;AP001660;AY063514;AY063515;AY344117;AY344118;BC144077;CH471079;CS300709;DR004370;NR_003087;NR_003088 AAL47201;AAL47202;AAL99903;AAM70494;AAM70495;AAQ22368;AAQ65077;BAA95546;CAK32373;EAX10058;EAX10059;Q9NSE7 Hs.366575 1688791;1740643;1797246;2120340;2147107;5015619 ABCC13_1906;D11S3114;D21S1839;D21S1951;RH99103;SHGC-52079 C21orf73;PRED6 ATP-binding cassette protein C13 APPROVED pseudo ENSG00000243064 16022 10586 608835 REVIEWED 619569 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008] 10 10 q24 101532493 101601571 + 101542463 101611662 + 631914;1598602;1598611;1598613;1598614;1598616;1598571;1598605;69812;1580863;704399;1358123;2312726;2312728;2312730;2312736;2312809;2317509;2316977;2317508;6480464;6907045;7240710;2301067 8662992;16139386;16572733;16504477;16037978;10053008;12702498;16899240;8599091;12663688;12433976;18189363;19356064;17664251;15319330;1632778;19020751;17353665;19451719;17135344 21160029;17485564;12395335;22256867;19010343;18981587;18974617;18946804;18926681;18838068;18799096;18697280;18695635;18690847;18676680;18597651;18518855;18509327;18498916;18445995;18439156;18416940;18381794;18381564;18334920;18294295;18221820;18192894;18180270;18176959;18038766;17997497;17925548;17924828;17906856;17890284;17825285;17725603;17622941;17606722;17578901;17534875;17502832;17494643;7559771;19541926;19513507;19494809;19415824;19400747;19349540;19343046;19214140;19167193;19098406;19074644;19038257;19017997;22744337;17478601;17403188;17287630;17241877;17185998;17156953;17145840;17112803;17083032;17060857;17047488;16946557;16821592;16791115;16788565;16771603;16672223;16628674;16542205;16505951;16426233;16341674;16330681;16041239;15922475;15870973;15848949;15801936;15519273;15226675;15211708;15057744;14568249;12960109;12942343;12890151;12704183;12702717;12628490;12615054;12576456;12388192;12222674;12130697;12068294;11952788;11937269;11745434;11677213;11500505;11477083;11266082;11093739;11076395;11004020;10573531;10496535;10464142;10361853;9878557;9525973;9425227;9284939;9185779;8894702;8797578;20738239;21206495;20530282;20565459;20679960;20720558;20439344;20702406;20658178;12477932;16385451;19170196;19421150;19442037;19480556;19568750;19625176;19636001;19692168;19696793;19730281;19771428;19776292;19842932;19857663;19865079;19885582;19885591;19890061;19937833;19944137;19956635;19956884;20061166;20124171;20147615;20173083;20200426;20204280;20216337;20368715;20453000;16712791;20404332;20102361;20839930;20922799;20943283;20973683;21072184;20082599;22454528;21044052;21134393;21170509;20351751;22676135;21451505;22630058;22201120;22939629;23506516;23700788;21059598;21449672;21541183;22112610;23135210;23052037;21039333;21799461;21945491;21691255;22473764;22027652;21864659;21986666;22407408;22428913;21963094;21988832;22695893;23188068;21899702;21906983;22275271;21918980;22307138;22318656;22469515;22534871;20193114;22062654;22178260;22673116;23131697;23190519;23222202;22899102;22955427;23237922;23562342;23697249;22922069 1244 Q5TCZ5;Q92887 ABBA01063241;ABBA01063242;ABBA01063243;AF144630;AJ132244;AL133353;AL392107;AMYH01002992;AMYH01002993;AMYH01002994;AMYH01002995;BC136419;BM765259;CB120555;CH471066;CS172499;GM000488;NG_011798;NM_000392;U49248;U63970;U66683;X96395 AAB09422;AAB39892;AAD47599;AAI36420;CAA65259;CAB45309;CAJ33679;CAS97349;EAW49852;EAW49853;NP_000383;Q92887 Hs.368243 1711908;1713433;1779986;2113948;2122400;2144365 ABCC2;D10S2172;D10S2421;G49565;RH119574;SHGC-154232 ABC30;CMOAT;DJS;KIAA1010;MRP2;cMRP ATP-binding cassette sub-family C member 2;OTTHUMP00000020267;canalicular multidrug resistance protein;canalicular multispecific organic anion transporter 1;multidrug resistance-associated protein 2 APPROVED protein-coding ENSG00000023839 53 03065 237500;601107 REVIEWED 733938 ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternative splicing of this gene has been observed; however, the transcript variants have not been fully described. [provided by RefSeq, Jul 2008] 11 11 p15.1 17371008 17455025 - 17414432 17498449 - 704365;737749;1580863;1598639;1598640;737750;704366;1598635;1625279;1598645;2301903;2301896;2301904;2301898;2301913;2311063;2301911;2313628;2301901;2301906;2301914;2301897;2325205;6480464;6484113;6907045;7240710 7716548;11030411;12199344;15579791;12524541;12496311;16550187;16416420;15857625;18316485;18776135;18025464;18599530;17657312;18940941;18021373;17259403;18346985;17673715;17285300;18664331;9769320 21671119;7502040;19498446;19475716;19343046;19139106;19056482;19021632;18996102;18988933;18828733;18796522;18767144;18758683;18679166;18596924;18497752;18392808;18390792;18339976;18290324;18281290;18162506;18025408;17942822;17942821;17919176;17823772;17668386;17636114;17597441;17593344;17575084;17535866;17516295;17446535;17389331;17378627;17317760;17213273;17207885;17118480;16897043;16885549;16873704;16613899;16429405;16373383;16357843;15842514;15840308;15807877;15613469;15579781;15562009;15356046;15111507;14728986;12941953;12941782;12879777;12540637;12364426;12356945;12213829;12149601;12118200;11938023;11867634;11825905;11692183;11536079;11318841;11226335;11160857;11018078;10639163;10615958;10506587;21422196;10506167;10447255;10338089;10334322;10204114;10202168;9653196;9648840;9618169;9568693;9519757;9135131;9041101;8923011;8751851;8650576;8635661;8630239;7920639;7847376;7716547;12937135;14660679;22562119;19913121;20602615;20628086;20682687;12475776;19254908;19342262;19578796;19587354;19766903;20079163;20164212;20215776;20384434;20453000;20410530;22927833;20734064;20863361;20301620;20810569;20922570;21173146;21199866;20685672;20042013;21378087;21536946;21617188;20573158;22533711;22972803;21674179;22086197;21214702;21544516;21923736;22020219;22187380;22308858;21978130;22466262;21716120;21992908;21981029;21989597;21540348;22106158;20301549;22326206;22451668;23266803;23345197;22815030;22704848;23273570;22802590 6833 E9PK50;H0YDH8;H0YE33;H0YEA9;H0YF51;Q09428 AB209084;ABBA01061064;ABBA01061065;AC124798;AF087138;AK297560;AMYH01003415;AW444836;CH471064;DB636549;HM635782;L40625;L78207;L78243;NG_008867;NM_000352;R84665;U63421;U63455 AAA99227;AAB02278;AAB02417;AAB02418;AAB36699;AAB36700;AAC36724;AAI67829;ADM67556;BAD92321;BAH12616;EAW68436;EAW68437;NP_000343;Q09428 Hs.54470 1336607;1659797;1757091;1773345;1848352;2184721;5491349;7186379 Abcc8;D11S2032;D11S2282E;D11S4388;D11S902;RH36002;SHGC-144482 ABC36;HHF1;HI;HRINS;MRP8;PHHI;SUR;SUR1;SUR1delta2;TNDM2 ATP-binding cassette sub-family C member 8;ATP-binding cassette transporter sub-family C member 8;OTTHUMP00000232577;atp-binding cassette, subfamily c (cftr/mrp), member 8;sulfonylurea receptor (hyperinsulinemia);sulfonylurea receptor 1 APPROVED protein-coding ENSG00000006071 59 02741 125853;240800;256450;600509;606176;610374 REVIEWED 1625838 ABCC6P1 ATP-binding cassette, sub-family C, member 6 pseudogene 1 16 16 16 p12.3 17778272 17779791 - 18490071 18517112 + 18582570 18609611 + 18405356;12477932;22873774 653190 ABBA01000781;ABBA01001980;ABBA01001981;ABBA01216899;AC136618;AK298443;AMYH01007263;AMYH01007264;BC075833;NR_003569 BAH12790 Hs.13188 1683481;1694756;1714015 G43581;RH119438;RH74970 pseudo ENSG00000256340 33352 PROVISIONAL 2293908 ABCC6P2 ATP-binding cassette, sub-family C, member 6 pseudogene 2 16 16 p13.11 14822190 14826081 - 14916289 14918559 - 18405356;15760889;12477932;22873774 730013 AC136443;AMYH01007182;BC015978;NR_023387 Hs.460057 5114788 A007L01 pseudo ENSG00000255277 33353 PROVISIONAL 734433 ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008] 16 16 p13.1 16150923 16224838 - 16243422 16317328 - 1580863;1331525;737772;1549868;1358123;6480464;7240710 15118671;10835643;11493310;12433976 8912525;10835642;19343046;19341707;19339160;19298904;19284998;19240061;19133228;19056482;18850323;18800149;18791038;18439156;18347285;18305351;18253096;18191640;18029147;18024896;17880583;17823974;17724214;17617515;17309461;17045963;16835894;16543900;16392638;16374464;16127278;16086317;15996518;15894595;15889270;15760889;15727254;15723264;15645653;15459974;14631379;12901863;12850230;12714611;12673275;12477932;12384774;12176944;11880368;11776382;11702217;11536079;11439001;11431746;11427982;11179012;11058917;10954200;10913334;10811882;10585762;10493829;10424734;9892204;9721217;9267806;8894702;4841083;3359381;19904211;19929409;20032990;20075945;20541540;20463007;20801516;20855565;20301292;21179111;22763786;22873774;21748403;22209248;22056557;21813308;21988832;21831958;23382691;23625951;23122642 368 A2RRN8;E7ESW8;I3L1Z6;O95255 ABBA01048921;ABBA01048922;ABBA01048923;AC136624;AF076622;AF168791;AI074459;AK298295;AM711638;AM774324;AMYH01007182;AY078405;BC050733;BC131732;CH471226;DC361874;NG_007558;NM_001079528;NM_001171;U91318 AAC15785;AAC79696;AAD51293;AAH50733;AAI31733;AAL83711;BAG60553;CAN84639;CAO81806;EAW53950;EAW53951;EAW53952;NP_001072996;NP_001162;O95255 Hs.442182 1648547;1699632;1789292;2118931;2190093;5037552;5114788 99-4448;A007L01;D8S2279;G67881;RH103419;RH70947;STS-X95715 ABC34;ARA;EST349056;GACI2;MLP1;MOAT-E;MOATE;MRP6;PXE;PXE1;URG7 ATP-binding cassette sub-family C member 6;MOAT-E;OTTHUMP00000160427;URG7 protein;URG7 protein; multidrug resistance-associated protein 6;anthracycline resistance-associated protein;liver multidrug resistance-associated protein 6;multi-specific organic anion transporter E;multidrug resistance-associated protein 6 APPROVED protein-coding ENSG00000091262 57 04453 177850;264800;603234;614473 REVIEWED 734363 ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing of this gene has been detected; however, the complete sequence and translation initiation site is unclear. [provided by RefSeq, Jul 2008] 3 3 q27 185120416 185218421 - 183637722 183735727 - 1580863;1358123;2301088;2325200;6480464 12433976;16997484;15688370 9325169;9827529;15297306;19343046;19077464;18690847;17803828;17540771;17521428;16156793;15861033;15631998;15146197;14507663;12695538;12646196;12637526;12477932;12388627;10893247;10840050;10737800;10728601;10721709;10438534;10340910;9270026;8894702;22843873;19913121;20628086;19898482;19903828;19940267;19956884;20922799;20597995;21449672;21890473;21906983;22272278;22278731;21963094;21988832;23000965;23271324 10057 A5PKY6;C9JZL5;E9PET4;F8WCY8;F8WDH3;H7C271;Q86UX3;Q9UQC3 AB005659;AB019002;AB209103;AB209454;ABBA01058465;ABBA01058466;ABBA01058467;ABBA01058468;AC068644;AF104942;AF146074;AL524917;AMYH01013709;AW207515;AY196484;AY754874;AY754875;AY754876;BC050744;BC051358;BC140771;BC142670;BC142719;BC144495;BE085682;BX647245;CH471052;CN410200;CN429416;NM_001023587;NM_005688;U66687;U83661 AAB71758;AAD04169;AAD37716;AAH50744;AAI40772;AAI42671;AAI42720;AAO49801;AAW82948;AAW82949;AAW82950;BAA22887;BAA76608;BAD92340;BAD92691;EAW78306;EAW78307;EAW78308;EAW78309;EAW78310;NP_001018881;NP_005679;O15440 Hs.368563;Hs.743953 1648419;1655612;1688446;1725617;1730273;1777292;2112566;2112574;2112608;2114832;2117880;2154204;2166795;2177294;2179963;2181761;2216970;5017244;5095006;5491840;7184709 ABCC5;ABCC5_681;CH241-100C11_T7;D3S1324E;D3S4256;D3S4341;D3S4345;D3S4424;G62024;RH46232;RH47340;RH70792;RH71180;RH80629;SGC33898;SHGC-34525;SHGC-64857;SHGC-77595;STS-N68159;STS-T83859 ABC33;DKFZp686C1782;EST277145;MOAT-C;MOATC;MRP5;SMRP;pABC11 ATP-binding cassette sub-family C member 5;OTTHUMP00000210859;OTTHUMP00000210861;OTTHUMP00000210862;OTTHUMP00000210863;OTTHUMP00000210864;atp-binding cassette, sub-family c (cftr/mrp), member 5a;canalicular multispecific organic anion transporter C;multi-specific organic anion transporter C;multidrug resistance-associated protein 5 APPROVED protein-coding ENSG00000114770 56 06898 605251 REVIEWED 736866 ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 17 17 q22 46067227 46124062 + 48712218 48769063 + 1300327;1598620;1580863;1358123;2301069;2301064;2301062;2301060;2301067;2325200;6480464;6907045 10094960;14731123;12433976;16543292;17640958;17855625;18096675;17135344;15688370 9813153;9738950;19343046;19334674;19114588;19107936;19077464;18799096;18698235;18604784;18593940;18313914;18207572;18038766;17495421;17494643;17485564;17300812;17272513;16946557;16460798;16424827;16278398;15824121;15167703;14759258;12704183;12628490;12477932;12220224;11850532;11820781;11745434;10772892;10362653;10340910;9889399;9827529;9270026;8894702;10359813;22699933;19345732;19480556;19956884;20200426;20379614;20453000;20563633;19937796;19913121;20628086;20922799;22089114;21799180;21512263;21780830;21987572;22016816;23069916;22272278;20706999;21606946;21963094;23000965;21139048;21906983;22105759;22767273;23176825;22585709 8714 D6RAB7;D6RJE5;H0Y8Q6;H0Y8T5;H0Y9T4;O95290;Q86VN9 AB010887;AB208954;ABBA01041243;ABBA01041244;AC004590;AC005921;AF009670;AF083552;AF085690;AF085691;AF085692;AF104943;AF154001;AJ294545;AMYH01008475;BC034683;BC046126;BC050370;BC058907;BC104952;BC127655;BC131755;BC137347;BC137348;BX649137;CH471109;NM_001144070;NM_003786;U83659;Y17151 AAB71756;AAC34668;AAD01430;AAD02845;AAD02846;AAD02847;AAD04170;AAD38185;AAH46126;AAH50370;AAI04953;AAI37348;AAI37349;BAA28146;BAD92191;CAA76658;CAC69553;EAW94590;EAW94591;EAW94592;EAW94593;EAW94594;NP_001137542;NP_003777;O15438 Hs.463421 1660231;1670209;1743393;1761015;1783626;1789360;1795270;1797248;5037552;5109281;7186728 ABCC3_1044;ABCC3_2390;D1S1425;D8S2279;G67864;GDB:315953;RH45401;SHGC-144981;SHGC-172087;STS-W86661 ABC31;DKFZp686E22157;EST90757;MLP2;MOAT-D;MRP3;cMOAT2 ATP-binding cassette sub-family C member 3;OTTHUMP00000221667;OTTHUMP00000221668;OTTHUMP00000221669;OTTHUMP00000221670;canalicular multispecific organic anion transporter 2;canicular multispecific organic anion transporter;multi-specific organic anion transporter D;multidrug resistance associated protein;multidrug resistance-associated protein 3 APPROVED protein-coding ENSG00000108846 54 06826 604323 REVIEWED 1352399 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in cellular detoxification as a pump for its substrate, organic anions. Alternative splicing results in multiple splice variants encoding different isoforms. [provided by RefSeq, Jul 2008] 13 13 q32 94470084 94751688 - 95672083 95953687 - 1580863;2301085;6480464;6907045 15030973 22411990;7557451;15297306;19515727;19400747;19343046;19138942;19082692;19077464;19073137;18690847;18676680;18662272;18636120;18625884;18615486;18612080;18364470;18045536;17959747;17939016;17903305;17878487;17696930;17682070;17578901;17404579;17229149;17083032;17081983;17003774;16791115;16282361;16156793;15827327;15364914;14643890;12883481;12835412;12792791;12695538;12637526;12523936;12499391;12477932;12133003;12105214;11991713;11856762;10470083;9661885;9270026;8894702;2806887;19913121;20628086;20834067;19170196;19399588;19480556;19625176;19692168;19696793;19735648;19903828;19940267;19956635;20018925;20032540;20133816;20200426;20379614;20393862;20547088;21205825;21296199;15123239;23503867;20727860;20804728;20922799;20395535;20530583;21359593;23126166;21571869;20171186;21799180;21156465;21741706;21987572;22272278;23472950;21139048;21890473;21906983;21897051;21922333;22542979;23478653;21963094;23575399;23222202;23087145;22139419;21866459 10257 B7Z3Q7;O15439;Q8IUA3 AB208973;ABBA01027193;ABBA01027194;ABBA01027195;ABBA01027196;ABBA01027197;ABBA01027198;ABBA01027199;ABBA01027200;ABBA01027201;ABBA01027202;AF071202;AF071203;AF339763;AF541977;AK290317;AK296247;AK298953;AK309460;AL139381;AL157818;AL356257;AL359750;AMYH01005302;AMYH01005303;AMYH01005304;AY081219;AY133678;AY133679;AY133680;AY207008;BC041560;BX113883;BX647118;CH471085;CS223373;NM_001105515;NM_005845;U83660 AAB71757;AAC27076;AAC27077;AAH41560;AAL88745;AAN08628;AAN08629;AAN08630;AAN17334;AAO37649;BAD92210;BAF83006;BAH12293;BAH12910;CAJ46926;EAX08949;EAX08950;EAX08951;EAX08952;NP_001098985;NP_005836;O15439 Hs.508423 1340287;1694824;1697592;1726305;1737441;1737505;1851737;2110239;2111656;2111658 ABCC4_2463;D13S1004;D13S1041;D13S1581;D13S1582;D13S631;G43645;G62453;RH102306;STS-N34031 EST170205;MOAT-B;MOATB;MRP4 ATP-binding cassette sub-family C member 4;MRP/cMOAT-related ABC transporter;OTTHUMP00000018560;bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4);canalicular multispecific organic anion transporter (ABC superfamily);multi-specific organic anion transporter B;multidrug resistance-associated protein 4;multispecific organic anion transporter B APPROVED protein-coding ENSG00000125257 55 05583 605250 REVIEWED 1351336 ABCD1P2 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 2 10 10 p11 38936991 38937780 + 38894541 38898740 + 9215666 26983 ABBA01003913;AL133173;NG_001270;U90288 bA453N3.6 pseudo 63 VALIDATED 1353939 ABCD1P1 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 1 p11 9215666;8829626 23785 ABBA01126667;NG_001246;U90290;X82264 pseudo 62 INFERRED 1342564 ABCD1P3 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 3 16 16 16 p11 30805852 30806644 - 32393845 32394637 - 32486344 32487136 - 9215666 26982 ABBA01001314;AC138915;AMYH01007527;NG_001269;U90289 pseudo 64 INFERRED 5487936 ABCD1P5 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 5 2 2 p11.1 91391799 91395566 + 92028072 92031839 + 11181995 642762 ABBA01048752;AC127391;AMYH01010665;CH471366;NG_006974 EAW50840 1794258 PMC310890P10 pseudo 42662 INFERRED 1351987 ABCD1P4 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 4 22 22 22 q11 548659 549448 + 15250852 15251641 + 16868415 16872610 + 10591208;9215666 26957 ABBA01001472;AMYH01012414;AP000543;NG_001265;U90291 ALD22Q11 pseudo 65 VALIDATED 730967 ABCD2 ATP-binding cassette, sub-family D (ALD), member 2 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008] 12 12 q12 38232813 38300237 - 39945022 40013843 - 1300329;1580863;6480464 8577752 10329405;10704444;11883941;10196381;19343046;18834860;18660489;17602313;16344560;16249184;15489334;12477932;10777694;10551832;9345306;9195160;20661612;20877624;21145416;18029348 225 Q9UBJ2 ABBA01049534;AC121334;AC125491;AF119822;AF119823;AF119824;AF119825;AF119826;AF119827;AF119828;AF119829;AF119830;AF119831;AJ000327;AK314254;AMYH01004389;AMYH01004390;BC104901;BC104903;CH471111;DB259336;NM_005164;U28150 AAB00541;AAD30439;AAI04902;AAI04904;BAG36920;CAA03994;EAW57807;NP_005155;Q9UBJ2 Hs.117852 1704410;1795272 ABCD2_195;SHGC-82897 ABC39;ALDL1;ALDR;ALDRP;hALDR ATP-binding cassette sub-family D member 2;OTTHUMP00000240848;adrenoleukodystrophy-like 1;adrenoleukodystrophy-related protein APPROVED protein-coding 66 03051 601081 REVIEWED 735726 ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011] 12 12 p12.1 21841590 21980895 - 21950323 22089628 - 1580863;1598644;1598645;1598647;1300328;2301909;6480464;7240710 15964031;15857625;15115899;15034580;18471810 8826984;18026101;19481058;19343046;18996111;18663158;18239147;16820413;16672225;16563363;16267564;16189514;15339904;14702039;12934053;12738227;12477932;12356945;12189208;12145195;12107410;11825905;11136227;11054556;11007308;10625598;10498831;10497157;10093054;9755153;9714850;9692785;9457174;8630239;19913121;20628086;19952277;19962959;20474083;20847183;18936737;19607836;19729596;20033705;20600101;20664073;22610116;20301486;22608503;22105623;23251661 10060 G3V1N6;H0YFV4;K4DI86;O60706;Q8N4N7 ABBA01067973;ABBA01067974;ABBA01067975;AC008250;AC084806;AF061323;AF061324;AK056519;AK092535;AK094171;AMYH01004320;AMYH01004321;BC033804;BX537513;BX640893;CA389699;CH471094;NG_012819;NM_005691;NM_020297 AAC16057;AAC16058;AAH33804;BAC04300;EAW96452;EAW96453;EAW96454;EAW96455;EAW96456;EAW96457;EAW96458;EAW96459;EAW96460;NP_005682;NP_064693;O60706 Hs.732701 1716419;1743003;2146578;5015607;5015609;5018983;5022637;5118147 AL033784;D11S2766;D11S3014;D11S3017;D11S3026;GDB:229337;RH121390;SHGC-18112 ABC37;ATFB12;CANTU;CMD1O;FLJ36852;SUR2 ATP-binding cassette sub-family C member 9;ATP-binding cassette transporter sub-family C member 9;OTTHUMP00000240076;OTTHUMP00000240077;OTTHUMP00000240078;sulfonylurea receptor 2;sulfonylurea receptor 2A APPROVED protein-coding ENSG00000069431 60 03258 239850;601439;608569;614050 REVIEWED 1352747 ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008] X X q28 152643530 152663375 + 152990323 153010216 + 1580863;1598655;6480464;7240710 8048932 16331554;8040304;7668254;8441467;10551832;19343046;19204726;18973459;18481121;18306728;17828604;17761426;17662307;17542813;17504626;17285533;16087056;16018167;15781447;15772651;15772093;15643618;15489334;15001567;14767898;14556192;12624723;12579499;12530690;12509471;12477932;12210797;12175782;11992258;11883941;11810273;11798073;11748843;11438993;11248239;10980539;10777694;10737980;10704444;10480364;10369742;10190819;9702690;9215666;9195223;8651290;8566952;8535452;8520725;8507690;8004093;8002973;7959759;7904210;7849723;7825602;7811247;7717396;7581394;6795626;6524872;1746561;20889312;16756494;18757502;19406751;19787628;20042197;20659892;20376793;21145416;20661612;20301491;21273699;20811636;22939629;21700483;21890473;21987572;10640429;16781659;17609205;22280810;9425230;21889498;21966424;23300730;21963094;21988832;23123468;14533738 215 A6NEP8;H0Y7L9;P33897 ABBA01045361;ABBA01045362;ABBA01045363;ABBA01045364;AMYH01023300;AY421736;AY421737;AY421738;BC015541;BC025358;CH471172;DQ305405;NG_009022;NM_000033;U52111;Z21876;Z31348 AAH15541;AAH25358;AAR07956;AAR07957;AAR07958;ABC41634;ABM81926;ABM85103;CAA79922;CAA83230;EAW72817;NP_000024;P33897 Hs.159546 1702226;1743943;1744517;1744549;1744551;1748043;1787982;1787984;5117360;5117362;5117364;5117366;5117368;5117508;5120852;5120854 G65802;G67205;G67214;GDB:376627;GDB:376680;GDB:376683;GDB:511618;GDB:523970;GDB:524010;GDB:524013;GDB:524016;GDB:524019;GDB:524020;GDB:524023;GDB:572900;UniSTS:99200 ABC42;ALD;ALDP;AMN ATP-binding cassette sub-family D member 1;OTTHUMP00000025960;adrenoleukodystrophy protein APPROVED protein-coding ENSG00000101986 61 02300 300100;300371 REVIEWED 7246989 ABCF2P2 ATP-binding cassette, sub-family F (GCN20), member 2 pseudogene 2 100422059 AACC02000048;ABBA01064008;AC004845;AMYH01017528;CH236952;NG_026596 pseudo 48842 INFERRED 7246954 ABCF2P1 ATP-binding cassette, sub-family F (GCN20), member 2 pseudogene 1 344653 ABBA01004635;AC126475;AMYH01013327;NG_022253 pseudo 48841 INFERRED 736620 ABCD3 ATP-binding cassette, sub-family D (ALD), member 3 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 1 1 p21.3 94656599 94756672 + 94883933 94984219 + 1580863;1300330;1598658;6480464;7240710 7528830;1301993 9521874;10704444;11883941;19343046;18660489;17602313;16710414;16344115;12477932;12176987;11453642;11248239;10777694;10551832;10447258;9199576;9126326;8726233;8453064;8449508;1536884;1301179;17353931;9765053;21145461;19913121;20628086;20661612;20562859;18029348;20877624;20007743;14702039;19615732;20379614;9922452;22990118;22939629;17609205;9425230;21139048;21890473;21906983;21987572;22190034;22505724;14709540 5825 E7EUE1;F5GYC1;P28288 ABBA01045508;ABBA01045509;AC093117;AC118469;AK126440;AK296791;AK302714;AK308159;AL138758;AMYH01000807;AMYH01000808;BC009712;BC068509;BT006644;BX648715;CH471097;DC317792;M81182;NG_008865;NM_001122674;NM_002858;X58528;X83467 AAA60128;AAH09712;AAH68509;AAP35290;BAG59369;BAG63934;CAA41416;CAA58470;EAW73046;EAW73047;EAW73048;EAW73049;EAW73050;NP_001116146;NP_002849;P28288 Hs.700576 1644239;1722447;1742403;1795274;1850817;2154093;2176066 1400;ABCD3_1048;D1S3571;G29187;G60300;GDB:196676;SHGC-75171 ABC43;PMP70;PXMP1;ZWS2 70 kDa peroxisomal membrane protein;ATP-binding cassette sub-family D member 3;OTTHUMP00000012428;OTTHUMP00000012429;Peroxisomal membrane protein-1 (70kD);dJ824O18.1 (ATP-binding cassette, sub-family D (ALD), member 3 (PMP70, PXMP1));peroxisomal membrane protein 1 (70kD, Zellweger syndrome) APPROVED protein-coding ENSG00000117528 67 01368 170995 REVIEWED 1316370 ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in at least two different transcript variants, one which is protein-coding and one which is probably not protein-coding. [provided by RefSeq, Jul 2008] 14 14 q24.3 73821733 73839512 - 74751980 74769767 - 1580863;6480464 9266848;18029348;19343046;16344560;15909363;15800013;12477932;12111378;9599016;9521874;9302272;8889548;16169070;20661612;22922874;21514256;14533738;21139048;21906983 5826 E9PI46;E9PPB6;F8W7M4;G3V3W1;G3V4U7;H0YCY9;H0YJ78;H0YJ82;H0YJL8;H0YJX8;O14678 ABBA01030724;AC005519;AF009746;AK291332;AK297934;AK308382;AMYH01005852;BC012815;BF062605;BI916327;BM667379;BQ893869;BT007412;BX247984;BX248053;CH471061;CQ798278;CR457104;DA713794;DA799558;DC332064;NG_032875;NM_005050;NR_003256;Y14318;Y14322;Y14323 AAB83967;AAH12815;AAP36080;ABM83773;ABM87093;BAF84021;BAH12692;CAA74699;CAD62318;CAD62355;CAG26855;CAG33385;EAW81165;EAW81166;EAW81167;EAW81168;EAW81169;EAW81170;EAW81171;EAW81172;NP_005041;O14678 Hs.94395 1646403;1679567;1773059;1773061;1774557;2133215;2155046;2163686;5095094 A006I12;A008S38;ABCD4;G20837;G38080;HSC13B122;RH44881;RH70410;RH91782 ABC41;EST352188;MAHCJ;P70R;P79R;PMP69;PXMP1L 69 kDa peroxisomal ABC-transporter;ATP-binding cassette sub-family D member 4;OTTHUMP00000195523;PMP70-related protein;PXMP1-L;peroxisomal membrane protein 1-like;peroxisomal membrane protein 69 APPROVED protein-coding ENSG00000119688 68 04446 603214;614857 REVIEWED 734018 ABCF1 ATP-binding cassette, sub-family F (GCN20), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008] 6 6 p21.33 30647149 30667288 + 30539170 30559309 + 1580863;6480464 9790762;19343046;17894550;17456004;17119950;17081983;16964243;15489334;15345747;15302935;14574404;12477932;10931828;10581359;22586326;21145461;16169070;19570978;19851445;19912639;21048031;22863883;21832049;21252943;21907836;17370265;21139048;21890473;21906983;21900946;23263557;23182705;22174317;22952844;19738201;19805454;22678362;23000965;23455922 23 F5GYK6;H0YGW7;Q2L6I2;Q5STZ7;Q5STZ8;Q8NE71 AB023052;AB088096;AB103602;AB202093;AB209564;ABBA01038049;ABBA01038050;AC006138;AF027302;AK298061;AK307551;AL662800;AL662825;AL832430;AMYH01016205;BA000025;BC016772;BC034488;BC112923;BI547952;BM556481;BU620927;BX000357;BX119957;BX248518;BX927220;CH471081;CR388372;CR753328;CR759778;CR847863;NM_001025091;NM_001090 AAC70891;AAH16772;AAH34488;AAI12924;ABM82181;ABM85743;BAB63325;BAC54928;BAD92801;BAE78612;BAF31263;BAG60354;CAH10648;EAX03300;EAX03301;EAX03302;NP_001020262;NP_001081;Q8NE71 Hs.655285 1725631;1795276;2181544;2218716;5022578;5024039;5037552 ABCF1_1054;ABCF1_2136;D16S325;D1S1423;D6S2266;D8S2279;G62097 ABC27;ABC50 ATP-binding cassette 50 (TNF-alpha stimulated);ATP-binding cassette sub-family F member 1;OTTHUMP00000029110;OTTHUMP00000029111;OTTHUMP00000238584;TNF-alpha-stimulated ABC protein;TNFalpha-inducible ATP-binding protein APPROVED protein-coding ENSG00000204574 70 09139 603429 REVIEWED 1313249 ABCE1 ATP-binding cassette, sub-family E (OABP), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 q31 146238606 146270126 + 146019156 146050676 + 6480464 20372810;21145461;7539425;11585831;19343046;18189233;18006034;16344560;15809757;15489334;15107989;14747530;12600646;12578357;12477932;11780123;9877446;9847332;9660177;8838820;8641422;16275648;19615732;19657357;20122402;22863883;23008114;21448132;16196087;22586326;21139048;21890473;21906983;21987572;22267055;17233757;22851315;17222823;19020832;21543480;22004035;22053931;22505724 6059 D6R9I9;D6RGF4;H0Y990;P61221 AB062293;ABBA01070024;AC096757;AK315198;AMYH01014592;BC016283;BC016988;BT009779;CH471056;DA218189;DQ148409;L24115;NM_001040876;NM_002940;X74987;X76388 AAH16283;AAH16988;AAP88781;AAZ38723;BAB93476;CAA52920;CAA53972;EAX05049;NP_001035809;NP_002931;P61221 Hs.12013 1744285;2187327;5014051;5019198;5022578;5123639 D1S1423;D8S2278;GDB:451571;RH104489;RH70908;SHGC-50255 ABC38;OABP;RLI;RNASEL1;RNASELI;RNS4I 2'-5'-oligoadenylate-binding protein;ATP-binding cassette sub-family E member 1;OTTHUMP00000220305;OTTHUMP00000220421;RNase L inhibitor;huHP68;ribonuclease 4 inhibitor;ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) inhibitor APPROVED protein-coding ENSG00000164163 69 03132 601213 REVIEWED 1347632 ABCG3 ATP-binding cassette, sub-family G (WHITE), member 3 10708515;11178751 64007 AF324242 13883 1312673 ABCF2 ATP-binding cassette, sub-family F (GCN20), member 2 This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding casette proteins transport various molecules across extra- and intracellular membranes. Alterations in this gene may be involved in cancer progression. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 7. [provided by RefSeq, Jul 2013] 7 7 q36 150535856 150555250 - 150904923 150924317 - 1580863;6480464 9878413;19343046;19002184;16996567;16203778;15489334;12853948;12690205;12477932;11435397;11124703;10944468;10922475;10581359;8894702;22252987;20877624;22863883;22939629;12840015;18781797;21987572;21139048;21890473;21906983;16009940;21963094;21988832;22504420;23000965;15790807;23382691;22053931;22505724 10061 C9JHK9;C9JZV3;Q75MJ1;Q9UG63 AACC02000108;ABBA01035160;ABBA01035161;AC021097;AF091073;AF261091;AF261092;AJ005016;AL050291;AMYH01018144;BC001661;BG720644;BT007451;CH471173;CR987440;HY165500;NM_005692;NM_007189 AAC72942;AAG13902;AAG13903;AAH01661;AAP36119;AAS00378;AAS00379;ABM83230;ABM86429;CAA06290;CAB43392;EAL24507;EAL24508;EAW54013;EAW54014;EAW54015;EAW54016;EAW54017;NP_005683;NP_009120;Q9UG63 Hs.654958 1659931;1779936;1853439;2139142;2176282;2216972;5020635 ABCF2_3305;D7S2124E;D7S3207;RH68744;SHGC-154184;WI-11989;WI-14058 ABC28;DKFZp586K1823;EST133090;HUSSY-18;HUSSY18;M-ABC1 ABC-type transport protein;ATP-binding cassette sub-family F member 2;Iron inhibited ABC transporter 2;OTTHUMP00000206140;OTTHUMP00000206141;iron-inhibited ABC transporter 2 APPROVED protein-coding ENSG00000033050 71 12403 612510 REVIEWED 732770 ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008] 2 2 p21 43919607 43959109 + 44066103 44105605 + 1300331;1601097;1580863;631968;1558629;1598662;1601095;1601094;1300237;6480464;6907045;7240710 11099417;12671028;11452359;14618236;16764892;15331430;15816807;11901146 14504269;16870176;19343046;19306529;19270375;19217458;19111681;19060906;19056482;19019257;19018975;19012522;19005228;18977479;18850127;18676680;18660489;18641716;18581044;18522623;18457353;18007013;17827468;17690481;17632509;17626266;17612515;17403900;17102949;17098593;17055487;16980816;16893193;16518588;16472606;15930516;15611112;15520451;15311998;15262185;15175352;14703505;12477932;12220438;12208868;12208867;12150943;12124998;12111378;11893785;11668628;11590207;22655090;20592455;20594224;20679960;19170196;19692168;19692220;19878569;20163776;20170916;20172523;20210363;20235787;20370913;20379614;20403997;20413122;20497293;20529992;19060911;20854103;21039838;21062971;20581104;20837016;21274884;20686565;22378727;23179156;21988832;23556150;23241408;22548731 64241 Q96A01;Q9H221 ABBA01075097;AC108476;AF320294;AF324494;AF351824;AF404106;AF404107;AMYH01010304;BC113657;BC143564;CH471053;NG_008884;NM_022437 AAG40004;AAI13658;AAI43565;AAK84078;AAK84663;AAK85386;AAK85389;AAY24011;ADR83246;EAX00285;NP_071882;Q9H221 Hs.413931 1337199;1701328;1797256;2151815;2175070;7183811 ABCG8_1950;D2S119;D2S2928;G29195;RH104294 GBD4;MGC142217;STSL ATP-binding cassette sub-family G member 8;ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2);ATP-binding cassette, subfamily G, member 8;OTTHUMP00000158952;atp-binding cassette, sub-family g (white), member 8;sterolin 2;sterolin-2 APPROVED protein-coding ENSG00000143921 13887 05679 210250;605460;611465 REVIEWED 1321386 ABCF3 ATP-binding cassette, sub-family F (GCN20), member 3 3 3 3 q27.1 182345574 182353503 + 185386557 185394489 + 183903863 183911795 + 6480464 16344560;15489334;14702039;12477932;11435397;8894702;16169070;16159877;22863883;22939629;19471022;21139048;21906983;22472876;22053931 55324 F8WCU6;Q9NUQ8 ABBA01058455;AC131235;AK002060;AK024758;AK027288;AK092415;AK097073;AK126150;AK290106;AK299256;AK299433;AMYH01013711;BC009253;BC035652;BC051754;BC051884;CH471052;DB079392;DC318082;NM_018358 AAH09253;AAH51754;AAH51884;ADZ15454;BAA92063;BAB14989;BAC03881;BAF82795;BAG61287;BAG61411;EAW78288;EAW78289;NP_060828;Q9NUQ8 Hs.361323 1797250;1849731;2146236;2175732;2191001 A007B05;ABCF3_2614;G29218;MARC_12819-12820:999872670:3;RH41945 EST201864;FLJ11198 ATP-binding cassette sub-family F member 3;OTTHUMP00000210711;OTTHUMP00000210712 protein-coding ENSG00000161204 72 12404 VALIDATED 732219 ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008] 2 2 p21 43893115 43919462 - 44039611 44065958 - 1300331;1580863;1598659;1558629;1598662;1300236;6480464;6907045;7240710 11099417;16026620;14618236;16764892;12444248 19019257;19012522;19005228;18996102;18850127;18660489;18641716;18581044;18522623;18457353;18007013;17827468;17690481;17626266;17612515;17403900;17102949;17098593;17055487;16980816;16893193;16614398;16518588;16472606;16250035;15980630;15930516;15816807;15611112;15520451;15311998;15262185;15175352;15121760;14703505;14702039;12477932;12220438;12208868;12208867;12150943;12124998;11907139;11855938;11668628;11590207;14504269;17474147;16870176;19343046;19306529;19270375;19217458;19111681;19060911;11452359;11435688;11138003;9727073;22655090;19913121;20581104;20602615;20628086;20679960;17632509;19692220;19878569;19917453;19956635;20170916;20172523;20210363;20370913;20403997;20413122;20497293;20855565;20521169;20686565;20467438;23556150;23179156 64240 E5RFY8;E5RHB7;E7EX35;Q2T9G2;Q9H222 ABBA01075097;AC011242;AC108476;AF312715;AF320293;AF404106;AF404107;AK091997;AMYH01010304;BC111541;BC111542;CH471053;NG_008883;NM_022436 AAG40003;AAG53099;AAI11542;AAI72287;AAK85387;AAK85388;AAY14703;AAY24010;EAX00286;EAX00287;EAX00288;NP_071881;Q9H222 Hs.132992 1298195;1334808;1661783;1676714;1797254;2119527 ABCG5_2000;D2S1352;D2S1788;RH27092;RH70461;RH70519 STSL ATP-binding cassette sub-family G member 5;ATP-binding cassette, subfamily G, member 5;OTTHUMP00000158956;OTTHUMP00000201654;sterolin 1;sterolin-1 APPROVED protein-coding ENSG00000138075 13886 05678 210250;605459 REVIEWED 732853 ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008] 21 21 q22.3 42492868 42590423 + 43619799 43717354 + 1580863;1300235;6480464 10639163 16702602;15994327;17293612;16870176;17408620;11500512;18490524;16780588;19343046;19287193;19168441;18827283;18660489;18640393;18619413;18599800;18057374;17848583;17761632;17387528;17241464;17187964;17141191;17121837;17082211;17020879;16902247;16857950;16730733;16357317;16054053;16024918;15584507;15492319;15489334;15240127;14702039;12477932;12032171;11590207;11350058;11279031;11162488;11072082;10950923;10830953;10799558;9110174;22772754;22503545;9034316;8703120;8659545;8619474;19913121;20057170;20628086;20585627;16556852;19481530;19556716;19839639;19895785;19948975;20170916;20395595;20675829;20713650;20931526;20798376;21295304;21817095;21289254;22353356;22365996;22872754;21111593;22155456;19322201;21722899;21978921;22753765;23139370;23172659;22466164;21821149;22505724;22614118 9619 C9JKD9;E7ERE5;E9PGV9;Q9BXL1 AB038161;ABBA01014173;ABBA01014174;AF038175;AF323658;AF323660;AF323661;AF323662;AF323663;AF323664;AJ289137;AK092959;AK292152;AK298491;AL833689;AMYH01012267;AP001622;AP001623;AP001746;AY048757;BC029158;BX537588;CH471079;NM_004915;NM_016818;NM_207174;NM_207627;NM_207628;NM_207629;X91249 AAB97364;AAH29158;AAK28833;AAK28834;AAK28835;AAK28836;AAK28837;AAK28838;AAK28839;AAK28840;AAK28841;AAK28842;AAL06598;ABM82269;ABW03371;ACE87838;ACT64470;BAA95530;BAB13728;BAF84841;BAG60699;CAA62631;CAC00730;EAX09574;EAX09575;NP_004906;NP_058198;NP_997057;NP_997510;NP_997511;NP_997512;P45844 Hs.124649 1714751;1749435;1772316;1772318;1772751;1774459;1790645;2163142;2216974 A005U31;ABCG1_3286;D21S1225;G20514;G34692;RH120041;SHGC-111166;SHGC-87665;STS_CEB276 ABC8;MGC34313;WHITE1 ABC transporter 8;ATP-binding cassette sub-family G member 1;ATP-binding cassette transporter 8;ATP-binding cassette transporter member 1 of subfamily G;OTTHUMP00000109322;OTTHUMP00000109323;OTTHUMP00000109324;OTTHUMP00000109325;OTTHUMP00000109326;OTTHUMP00000109327;homolog of Drosophila white;white protein homolog (ATP-binding cassette transporter 8) APPROVED protein-coding ENSG00000160179 73 04355 603076 REVIEWED 6481284 ABHD11-AS2 ABHD11 antisense RNA 2 100874076 AC073846 APPROVED miscrna 40012 1314115 ABCG4 ATP-binding cassette, sub-family G (WHITE), member 4 The protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily and is expressed predominantly in liver tissue. The function has not yet been determined but may involve cholesterol transport. Alternate splice variants have been described but their full length sequences have not been determined. [provided by RefSeq, Jul 2008] 11 11 q23.3 118524960 118538585 + 119019750 119033375 + 1580863;6480464 16344560;16870176;16682745;19343046;18668433;18660489;18508037;16902247;15489334;15240127;12477932;12183068;12137944;11856881;11606068;11435397;19913121;20628086;19948975;22391220 64137 E9PJ00;E9PPE3;Q9H172 ABBA01039678;AJ300465;AJ308237;AJ308238;AJ308251;AK289830;AK290035;AK308673;AL137563;AMYH01004080;AP002956;AY055472;BC041091;CH471065;DA093690;DA241043;NM_001142505;NM_022169 AAH41091;AAL16400;AAL16401;AAL16402;BAF82519;BAF82724;CAB70814;CAC17140;CAC87131;EAW67464;EAW67465;EAW67466;NP_001135977;NP_071452;Q9H172 Hs.126378 1673500;1795278 ABCG4_683;D11S2450 WHITE2 ATP-binding cassette sub-family G member 4;ATP-binding cassette, subfamily G, member 4;OTTHUMP00000232083;OTTHUMP00000232085;OTTHUMP00000232086;putative ABC transporter APPROVED protein-coding ENSG00000172350 13884 12130 607784 REVIEWED 1352615 ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 4 4 q22 89230440 89299035 - 89011416 89152474 - 1580863;2315573;2315584;2315568;2315569;2315580;2315587;2316977;5135288;6480464;6484113;6907045;7240710 19152228;17915193;11948115;15906349;18451542;16190927;17353665;19733976 20885358;21219875;21245102;15838659;12958161;22193459;9850061;18056989;16870176;9861027;19605531;19584153;19546880;19541926;19523815;19514121;19506252;19503597;19474787;19406100;19403814;19367293;19349540;19343046;19277036;19251825;19240161;19232821;19188929;19172464;19167193;19165709;19141860;19139722;19131524;19114588;19107936;19101070;19074750;19063604;19052456;19032367;19023099;18981009;18958403;18951337;18841445;18841444;18838068;18834626;18829547;18824712;18823676;18820285;18806751;18793608;18775442;18725232;18710444;18702307;18695635;18681776;18668433;18644784;18588889;18573883;18559609;18558430;18509645;18430864;18429968;18408567;18392808;18382425;18370855;18309947;18256692;18255023;18249138;18245481;18240903;18237272;18221820;18207572;18200595;18180275;18167504;18159130;18094074;18055445;18042733;17976197;17975119;17938643;17938326;17934801;17925548;17923155;17916067;17875533;17701580;17690695;17686774;17682070;17671398;17662239;17627617;17622941;17595345;17569884;17534875;17519960;17518356;17505995;17494054;17481587;17460607;17445775;17438106;17434155;17380269;17373578;17347325;17340137;17323127;17312388;17297656;17275084;17273774;17237154;17229149;17228519;17148776;17098188;17032904;16960658;16954373;16847575;16815914;16791115;16749862;16707421;16704962;16618113;16612649;16554028;16543472;16528971;16505951;16460798;16445700;16402910;16367905;16343180;16278398;16278376;16160819;16146333;16108826;16086592;16041239;16024622;16008690;15961534;15917307;15899516;15813675;15811951;15811555;15807535;15801936;15769853;15670731;15625123;15618737;15607361;15598974;15557326;15489334;15475413;15355921;15260487;15251980;15229462;15208643;15170677;15146167;15044468;15027118;15014037;15014021;15001581;14702039;14613996;14576842;14566825;12960109;12874005;12810652;12741957;12682043;12668685;12604403;12576456;12479221;12477932;12459192;12438926;12429862;12393637;12374800;12369998;12208758;12145683;12111378;12054514;11986944;11807788;11801536;11688982;11590207;11566359;11533706;11309308;11306452;10070941;9892175;8894702;22797727;21449672;21133588;19782739;19782742;20460431;20437864;20570348;20626554;20728430;19913121;20530282;20600004;20628086;20670164;20679960;20714133;20720558;21132002;17851787;17927879;18315895;18991020;19333723;19340456;19421150;19442037;19477032;19567678;19593328;19629677;19636001;19642144;19670287;19672972;19691360;19696792;19708828;19713741;19751749;19771428;19785662;19825807;19842935;19878569;19885582;19890391;19898482;19921266;19924384;19930591;19940551;19956635;19969351;20019844;20035425;20053405;20088606;20130569;20162742;20162743;20182906;20200437;20203106;20207952;20304939;20307139;20332504;20368174;20389299;20421215;20453000;20103600;20705611;20804740;20472486;20858845;20399185;20562004;20663031;20682644;20705604;20739628;20839930;20858603;20884846;20922799;20959405;20972558;21054463;21072184;20492723;20857515;19967559;20171362;20592365;20846001;20975373;19622290;19728910;21323575;21459080;21487020;20691148;21184741;21332310;21523728;21321273;21321274;21106767;21154157;21091277;22236447;22401348;22736306;22925688;22952907;22959800;22750628;23493553;22581381;20936466;21421882;21526180;21718815;20360068;21630164;21712253;23169446;22887864;22922104;22800348;22473764;20109342;21884202;21365123;21775706;21748335;21864296;21935580;21956451;21731744;21854076;21455636;21531129;21774076;21640380;20950350;21625222;21707071;21943250;15252757;20717756;21827403;21971989;22132962;22132963;22132966;22246505;22246507;22004608;22093699;23069916;23280364;21465479;21859328;21878538;22062654;21918980;22391220;22587765;22452996;22521545;21445088;22497316;21922333;21943158;22112610;22116099;22161105;22209971;22229870;22266374;22331829;22342288;22360504;22515119;22182917;22241070;22318606;22348008;22845311;23342897;23317196;23469685;21963094;22521463;23287578;23394449;22752253;23064961;23118302;23263486;22395309;20604570;20701289;23150485;23385102;22525603;23047249;23166586;23244569;23544272;19909340;21111494;22340044;22340101;22937733;23435138;22870247;23153455;23240156;23262099;23539627 9429 H0YAF1;H0YAF3;Q8IX16 AB051855;AB056867;ABBA01063543;ABBA01063544;ABBA01063545;ABBA01063546;AC084732;AC097484;AF093771;AF093772;AF098951;AF103796;AF463519;AK002040;AK290000;AMYH01014382;AMYH01014383;AY017168;AY288307;AY289766;AY333755;AY333756;BC011032;BC021281;BC092408;BI598784;CH471057;CQ757490;DQ459561;DQ459562;DQ459563;DQ459564;DQ459565;DQ459567;DQ459568;DQ459570;DQ459571;DQ459572;DQ459573;DQ459574;DQ459575;DQ459576;DQ459577;DQ459578;DQ459579;DQ459580;DQ459581;DQ459582;DQ459583;DQ459584;DQ459585;DQ459586;DQ459587;DQ459588;DQ459589;DQ459590;DQ459591;DQ459592;DQ459593;DQ459594;DQ459595;DQ459596;DQ459597;DQ459598;DQ459599;DQ459600;DQ459601;DQ459602;DQ459603;DQ459604;DQ459605;DQ459606;DQ459607;DQ459608;DQ459609;DQ459610;DQ459611;DQ459612;DQ459613;DQ459614;DQ996467;HQ386990;HQ386991;HQ386992;HQ386993;HQ386994;HQ386995;HQ386996;HQ386997;HQ386998;HQ386999;HQ387000;HQ387001;HQ387002;HQ387003;HQ387004;HQ387005;HQ387006;HQ387007;NG_032067;NM_001257386;NM_004827;U66681 AAC97367;AAD09188;AAG52982;AAH21281;AAH92408;AAO14617;AAP31310;AAP44087;AAQ92941;AAQ92942;AAY40902;ABI97388;ABM83234;ABM86433;ADO95109;ADO95110;ADO95111;ADO95112;ADO95113;ADO95114;ADO95115;ADO95116;ADO95117;ADO95118;ADO95119;ADO95120;ADO95121;ADO95122;ADO95123;ADO95124;ADO95125;ADO95126;BAA92050;BAB39212;BAB46933;BAF82689;CAF32512;EAX06012;EAX06013;NP_001244315;NP_004818;Q9UNQ0 Hs.480218 1338978;1797252;2150603;2174464;2176898;2179701;5022018;5106229 ABCG2;ABCG2_1993;D4S2623;RH18379;SHGC-24753;SHGC-59795;SHGC-67418;STS-AA001604 ABC15;ABCP;BCRP;BCRP1;BMDP;CD338;CDw338;EST157481;GOUT1;MGC102821;MRX;MXR;MXR1;UAQTL1 ABC transporter;ATP-binding cassette sub-family G member 2;ATP-binding cassette transporter G2;OTTHUMP00000161176;OTTHUMP00000219514;breast cancer resistance protein;gout susceptibility 1;mitoxantrone resistance protein;mitoxantrone resistance-associated protein;multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2;placenta specific MDR protein;placenta-specific ATP-binding cassette transporter APPROVED protein-coding ENSG00000118777 74 04783 138900;603756;614490 REVIEWED 1322201 ABHD1 abhydrolase domain containing 1 This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008] 2 2 2 p23.3 27192963 27199985 + 27200161 27207184 + 27346657 27353680 + 6480464 12735795;15815621;15489334;14702039;12477932;11922611 84696 C9J8C2;E9PDR9;F8WBB3;Q96SE0 ABBA01045194;ABBA01045195;AC013403;AK074615;AK093447;AMYH01010194;AY033290;BC028378;BC031868;BC039576;BC056403;CH471053;DB455979;NM_032604 AAH39576;AAK44222;AAX93169;BAG52718;EAX00631;EAX00632;EAX00633;EAX00634;NP_115993;Q96SE0 Hs.375791 1678143;1681223;1772066;2161521;5015961;5022322;5024756;5037552 D11S2560;D15S1477;D8S2279;RH35839;RH80030;RH92602;STS-N81134;WI-21131 FLJ36128;LABH1 OTTHUMP00000122587;OTTHUMP00000200960;abhydrolase domain-containing protein 1;lung alpha/beta hydrolase 1 APPROVED protein-coding ENSG00000143994 17553 07468 612195 REVIEWED 5133081 ABHD14A-ACY1 ABHD14A-ACY1 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring abhydrolase domain containing 14A (ABHD14A) and aminoacylase 1 (ACY1) genes on chromosome 3. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to be protein-coding. [provided by RefSeq, Nov 2010] 3 p 52009042 52023218 + 20967262 100526760 C9JMV9;F2Z3Q0 ABBA01024516;AC115284;AK294015;AK298086;AMYH01013181;NR_037192 BAG57376;BAG60372 Hs.334707 1658480;1683279 RH11608;RH66446 FLJ60317;FLJ60467 APPROVED miscrna ENSG00000114786 38856 VALIDATED 1346003 ABHD10 abhydrolase domain containing 10 This gene encodes a mitochondrially-localized enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 3 3 3 q13.2 110096908 110111290 + 113180589 113194896 + 111697828 111712210 + 737633;1580863;6480464 12477932 16381901;15489336;15489334;14702039;11256614;11076863;20379614;20877624;20562859;20000738;21139048;21890473;21906983;22294686;19322201;21078990;21832049;22400490;22813719 55347 B7Z6A8;C9IZX5;F8WBJ5;F8WBQ6;Q9NUJ1 ABBA01061669;AC060225;AK002204;AK093591;AK300018;AL713726;AMYH01013389;BC014516;CA427297;CH471052;DB453330;DB494690;DC395725;DR760607;NM_001272069;NM_018394;NR_073570;NR_073571 AAH14516;BAA92133;BAH13194;CAD28516;CAL37438;EAW79688;EAW79689;NP_001258998;NP_060864;Q9NUJ1 Hs.743466 1725069;1746029;2154513;2177474 D3S4249;RH118830;RH125627;WI-14974 FLJ11342 OTTHUMP00000214651;OTTHUMP00000214654;abhydrolase domain-containing protein 10, mitochondrial;alpha/beta hydrolase domain-containing protein 10, mitochondrial;mycophenolic acid acyl-glucuronide esterase, mitochondrial protein-coding ENSG00000144827 25656 07751 REVIEWED 1318018 ABHD13 abhydrolase domain containing 13 13 13 13 q33.3 89715507 89731348 + 107668764 107684604 + 108870763 108886603 + 6480464 18951430;16303743;15489334;15057823;14702039;12477932;19773279 84945 Q7L211 ABBA01027024;AK027812;AK124864;AL157762;AMYH01005363;BC018608;BC022566;BC070226;BQ424339;BX647428;CH471085;NM_032859 AAH22566;AAH70226;BAB55387;BAG54109;EAX09097;EAX09098;NP_116248;Q7L211 Hs.183528 5015992 Abhd13 BEM46L1;C13orf6;FLJ14906;MGC27058;RP11-153I24.2;bA153I24.2 OTTHUMP00000018692;abhydrolase domain-containing protein 13;alpha/beta hydrolase domain-containing protein 13;chromosome 13 open reading frame 6 protein-coding ENSG00000139826 20293 12618 VALIDATED 1349841 ABHD12B abhydrolase domain containing 12B 14 14 14 q22.1 31205922 31238736 + 50408628 50441438 + 51338878 51371688 + 6480464 18029348;15489334;14702039;12477932 145447 Q7Z5M8 ABBA01018146;AK128464;AL358334;AMYH01005723;AY311396;AY311397;AY311398;AY311399;BC034603;BC107141;BC107142;CH471078;NM_001206673;NM_181814 AAH34603;AAI07142;AAI07143;AAP78476;AAP78477;AAP78478;AAP78479;BAC87452;EAW65688;EAW65689;EAW65690;EAW65691;NP_001193602;NP_861535;Q7Z5M8 Hs.271896 1689785;2135477;2152475;5014051;5022651;5037552 D11S2921;D8S2278;D8S2279;G35512;HUM000S289;RH98538 BEM46L3;C14orf29;MGC129926;MGC129927;c14_5314 OTTHUMP00000178964;OTTHUMP00000244779;abhydrolase domain-containing protein 12B protein-coding ENSG00000131969 19837 VALIDATED 1314604 ABHD12 abhydrolase domain containing 12 This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011] 20 20 20 p11.21 25349117 25445220 - 25223379 25319477 - 25275379 25371618 - 6480464;7240710 16303743;15489334;14702039;12477932;11780052;20797687;17207965;21890473;22001757;22938382;22969151 26090 I3L1V0;I3L206;I3L294;I3L380;I3L440;Q5T712;Q9BX05 ABBA01048723;ABBA01048724;ABBA01048725;ABBA01048726;ABBA01048727;ABBA01048728;ABBA01048729;AK075023;AK290815;AK293495;AL117442;AL121772;AL353812;AMYH01011788;AMYH01011789;BC014049;BQ574269;BQ672998;BQ961739;CH471133;NG_028119;NM_001042472;NM_015600 AAH14049;ADQ32650;BAC11357;BAF83504;BAG56982;CAB55927;EAX10088;EAX10089;EAX10090;NP_001035937;NP_056415;Q8N2K0 Hs.441550 1675628;1679680;1686390;1690926;1725729 D20S589E;G62120;RH12467;RH39023;RH76548 ABHD12A;BEM46L2;C20orf22;DKFZp434P106;PHARC;dJ965G21.2 2-arachidonoylglycerol hydrolase;OTTHUMP00000030492;OTTHUMP00000030493;abhydrolase domain-containing protein 12;chromosome 20 open reading frame 22;monoacylglycerol lipase ABHD12 APPROVED protein-coding ENSG00000100997 15868 07094 612674;613599 REVIEWED 1601874 ABHD14A abhydrolase domain containing 14A 3 3 3 p21.1 51988316 51994490 + 51984124 51990252 + 52009042 52015216 + 6480464 15489334;15146197;14667578;12975309;12477932;8889548;22863883 25864 C9IYJ8;C9J7W8;C9JMW6;Q9BUJ0 ABBA01024516;AC115284;AK308592;AL050015;AMYH01013181;AY358201;BC002571;BM665207;CH471055;CN256406;NM_015407 AAH02571;AAQ88568;ACE86906;ACE87593;CAB43237;EAW65180;NP_056222;Q9BUJ0 Hs.534400 2191475 MARC_23666-23667:1029506618:1 DKFZp564O243;DORZ1;FLJ60317;FLJ60467 OTTHUMP00000212482;abhydrolase domain-containing protein 14A;alpha/beta hydrolase domain-containing protein 14A protein-coding ENSG00000248487 24538 08530 VALIDATED 1606493 ABHD11 abhydrolase domain containing 11 This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 68628612 68631377 - 72788363 72791120 - 73150424 73153190 - 6480464 17567985;16381901;15498874;15489336;15489334;12853948;12477932;12073013;11076863;20877624;21832049;21596165;21890473;21906983 83451 C9J7Q4;H0YC52;H7BZ58;H7C396;Q8NFV4 ABBA01063941;AC073846;AF217971;AF412030;AF412031;AF412032;AMYH01017538;AY053499;AY053500;BC008251;BC011712;BC067750;BG722364;BM557977;BP423415;BP872816;CB998040;CH471200;DB460434;DR006453;NM_001145364;NM_148912;NM_148913;NR_026910;NR_026912 AAG17214;AAH08251;AAH11712;AAH67750;AAL14848;AAL14849;AAM62312;AAM62313;AAM62314;AAS07472;ABM82430;ABM85622;CAL37753;CAL38343;EAW69642;EAW69643;EAW69644;EAW69645;EAW69646;EAW69647;NP_001138836;NP_683710;NP_683711;Q8NFV4 Hs.647045 1697940;5022578;5037552 D1S1423;D8S2279;RH102499 PP1226;WBSCR21 OTTHUMP00000160502;OTTHUMP00000211791;OTTHUMP00000211794;OTTHUMP00000211795;OTTHUMP00000211796;Williams Beuren syndrome chromosome region 21;abhydrolase domain-containing protein 11;alpha/beta hydrolase domain-containing protein 11;williams-Beuren syndrome chromosomal region 21 protein APPROVED protein-coding ENSG00000106077 16407 15658 REVIEWED 1604668 ABHD17AP1 abhydrolase domain containing 17A pseudogene 1 1 1 q21.2 146083936 146088707 + 147618345 147622067 + 16710414 728917 AC239803;AMYH01001373;BX842679;NG_011738 FAM108A2 APPROVED pseudo 28394 INFERRED 2292190 ABHD17AP3 abhydrolase domain containing 17A pseudogene 3 1 1 q41 212845405 212849212 - 214778787 214782588 - 21139048;21890473;21906983 648359 ABBA01048143;AL445305;AMYH01001720;NG_030366 FAM108A4;FAM108A4P family with sequence similarity 108, member A4 APPROVED pseudo 34041 INFERRED 2293157 ABHD17AP4 abhydrolase domain containing 17A pseudogene P4 22 22 22 q11.21 4512838 4516580 - 19351862 19355557 - 21021885 21025627 - 10591208 729495 ABBA01015449;AC007050;AMYH01012536;CH471176;NG_023156 EAX02943 FAM108A5;FAM108A5P APPROVED pseudo 34042 INFERRED 1605591 ABHD15 abhydrolase domain containing 15 17 17 17 q11.2 24748479 24754842 - 24912437 24918174 - 27887679 27894042 - 6480464 14702039;12975309;12477932 116236 Q6UXT9 ABBA01015016;AC104564;AK055889;AK056717;AMYH01008290;AY358212;BC012476;CH471159;NM_198147 AAH12476;AAQ88579;EAW51191;NP_937790;Q6UXT9 Hs.106510 1677472;5021872 RH47444;sY3084 abhydrolase domain-containing protein 15 protein-coding ENSG00000168792 26971 14014 VALIDATED 3207450 ABHD17AP7 abhydrolase domain containing 17A pseudogene 7 16 16 p11.2 32645433 32648372 - 32737932 32740871 - 100133212 AC138907;NG_022980 FAM108A8P APPROVED pseudo 38508 INFERRED 3378585 ABHD17AP6 abhydrolase domain containing 17A pseudogene 6 17 17 17 p11.2 21794095 21797884 - 20684590 20688401 + 20744020 20747809 + 644988 ABBA01050452;AC090774;AMYH01008263;AMYH01008264;AMYH01008265;NG_022988 FAM108A7P APPROVED pseudo 34044 INFERRED 3418290 ABHD17AP9 abhydrolase domain containing 17A pseudogene 9 16 16 p11.2 33059680 33062619 + 33152189 33155344 + 100132251 ABBA01158098;AC138869;AC145350;NG_028293 FAM108A10P APPROVED pseudo 38510 INFERRED 3520891 ABHD17AP5 abhydrolase domain containing 17A pseudogene 5 This locus is a pseudogene in the FAM108 family, and lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jun 2010] 22 22 22 q11.22 6289376 6289876 - 20801874 20802374 - 22471874 22472374 - 10591208;9074928 91219 ABBA01055079;AMYH01012639;D86997;D88269;NG_000002 FAM108A6;FAM108A6P APPROVED pseudo 34043 REVIEWED 1347246 ABHD17A abhydrolase domain containing 17A 19 19 19 p13.3 1811047 1819590 - 1827975 1836432 - 1876975 1885518 - 737633;6480464 12477932 16344560;16303743;14702039;21906983;21890473;23000965;23088713;22505724 81926 K7ENJ6;K7EQ25;Q96GS6 ABBA01002691;AC012615;AK024419;AK074043;AK074548;AK090438;AK289533;AMYH01009267;AMYH01009268;BC000158;BC009256;BC011667;BC020512;BC033749;BC035961;BC050605;BC071644;BC071876;BC094816;CH471139;CQ782500;DB025570;NM_001130111;NM_031213 AAH00158;AAH09256;AAH11667;AAH20512;AAH33749;AAH35961;AAH71644;AAH71876;AAH94816;BAB15709;BAB84869;BAC03419;BAC11052;BAF82222;CAF85784;EAW69440;EAW69441;EAW69442;EAW69443;EAW69444;EAW69445;EAW69446;EAW69447;NP_001123583;NP_112490;Q96GS6 Hs.465542;Hs.653679 C19orf27;FAM108A1;MGC5244 abhydrolase domain-containing protein FAM108A1;alpha/beta hydrolase domain-containing protein 17A;chromosome 19 open reading frame 27;family with sequence similarity 108, member A1 APPROVED protein-coding ENSG00000129968 28756 07475 VALIDATED 2859282 ABHD17AP8 abhydrolase domain containing 17A pseudogene 8 16 16 p11.2 32118711 32121644 + 32211210 32214143 + 647144 AC133485;AMYH01007520;NG_023021 FAM108A9P APPROVED pseudo 38509 INFERRED 1603002 ABHD14B abhydrolase domain containing 14B 3 3 3 p21.2 51981800 51987920 - 51977571 51983070 - 52002526 52008646 - 6480464 16344560;16303743;15489334;14702039;12477932;11053859;8889548;18029348;21139048 84836 B4DQI4;F8W9U3;Q96IU4 ABBA01024517;AC115284;AK075112;AK092152;AK096073;AK296599;AK298022;AK298813;AMYH01013181;BC007234;BC050650;BC056411;BC071931;BU732936;CH471055;CQ783024;CQ783152;CS072398;CS488917;DA315486;NM_001146314;NM_001254753;NM_032750 AAH07234;AAH50650;AAH56411;BAC04696;BAC11408;BAG59212;BAG60325;BAG60946;CAF86231;CAF86358;CAI93536;CAM55991;EAW65178;EAW65179;NP_001139786;NP_001241682;NP_116139;Q96IU4 Hs.420796 1852613;2181930 RH16446;SGC33900 CIB;MGC15429 CCG1-interacting factor B;OTTHUMP00000212466;OTTHUMP00000212467;OTTHUMP00000212469;OTTHUMP00000229616;abhydrolase domain-containing protein 14B;alpha/beta hydrolase domain-containing protein 14B;cell cycle gene 1-interacting factor B protein-coding 28235 17504 VALIDATED 1320221 ABHD16B abhydrolase domain containing 16B 20 20 20 q13.33 59176749 59178524 + 61963010 61964785 + 62492566 62494341 + 6480464 15489334;12477932;11780052;8889548 140701 Q96F95;Q9H3Z7 ABBA01021427;AL118506;AMYH01012094;AW772131;BC031949;BM700775;CH471077;NG_029863;NM_080622 AAI66655;EAW75203;NP_542189;Q9H3Z7 Hs.266774;Hs.675171 C20orf135;MGC42974;dJ591C20.1 OTTHUMP00000031618;abhydrolase domain-containing protein 16B;hypothetical protein LOC140701 APPROVED protein-coding ENSG00000183260 16128 12746 VALIDATED 1351609 ABHD16A abhydrolase domain containing 16A A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] 6 6 6 p21.3 33252945 33269362 - 31762715 31779067 - 31654726 31671137 - 1580863;6480464 14667819;15231747;19116923;19115949;18835879;15498874;15489334;14702039;14656967;14574404;12665801;12477932;2911734;2813433;20626023;21044367;15342556;19423540;19851445;20406964;20438785;17461779;21987572;21890473;20706999;23000965 7920 B0UXB6;B3KNX9;B7Z8I9;F2Z3G6;F2Z3H2;F2Z3Q3;O95870 ABBA01038084;AF129756;AF193047;AI076373;AK001207;AK023194;AK025398;AK055255;AK289469;AK297712;AK303496;AK308573;AL662899;AL670886;AL805934;AMYH01016217;BA000025;BC031839;BE272017;BP261875;BX248244;BX511262;CH471081;CR354443;CR753842;CR759761;CR759787;DC318775;DC360732;NM_001177515;NM_021160;NR_033488;NR_033489 AAD18079;AAG22475;AAH31839;ABM82251;ABM85435;BAA91553;BAB14455;BAB63383;BAF82158;BAG51491;BAH12652;BAH13975;EAX03482;EAX03483;EAX03484;NP_001170986;NP_066983;O95870 Hs.388188 1652322;1672384;1852466;2124097;2149085;2175528;5113615 A002L14;D6S1165E;D6S1938;NIB1238;RH1536;RH93334;WI-10341 BAT5;D6S82E;NG26;PP199 HLA-B associated transcript 5;OTTHUMP00000029258;OTTHUMP00000174407;abhydrolase domain-containing protein 16A;protein BAT5;protein G5 APPROVED protein-coding ENSG00000204427 13921 15929 142620 REVIEWED 1313162 ABHD17B abhydrolase domain containing 17B 9 9 9 q21.13 45050096 45098877 - 73667188 73715968 - 74477368 74526148 - 737633;6480464 12477932 15489334;15164053;10810093;21139048;21906983;22505724 51104 Q5VST6 ABBA01033843;AF151825;AI564777;AK293060;AL138751;AL671309;AMYH01021401;AMYH01021402;AMYH01021403;BC038390;BC044576;BG720713;CH471089;NM_001025780;NM_016014 AAD34062;AAH38390;AAH44576;BAF85749;EAW62521;EAW62522;NP_001020951;NP_057098;Q5VST6 Hs.380389 1663648;1723191;2163353;2165118;5037552 AFMa116yg9;D8S2279;RH121524;SHGC-36713;STS-T90485 C9orf77;CGI-67;FAM108B1;RP11-409O11.2 OTTHUMP00000021455;OTTHUMP00000021456;abhydrolase domain-containing protein FAM108B1;alpha/beta hydrolase domain-containing protein 17B;chromosome 9 open reading frame 77;family with sequence similarity 108, member B1 APPROVED protein-coding ENSG00000107362 24278 12978 VALIDATED 1603613 ABHD17C abhydrolase domain containing 17C 15 15 15 q25.1 57925147 57985463 + 78774707 78835017 + 80987652 81047962 + 6480464 14702039;12477932;22542470;21963094;21139048;21906983 58489 H0YN98;Q6PCB6 ABBA01060630;ABBA01060631;AC023302;AK091780;AK092758;AK298606;AL390079;AMYH01006850;AMYH01006851;BC059401;BC115003;CH471136;NM_021214 AAH59401;AAI15004;BAG60790;CAB98203;EAW99113;NP_067037;Q6PCB6 Hs.459072 1665643;1693798;1754651 SHGC-133006;SHGC-58937;WI-14644 FAM108C1;FLJ34461;MGC131546 abhydrolase domain-containing protein FAM108C1;alpha/beta hydrolase domain-containing protein 17C;family with sequence similarity 108, member C1 APPROVED protein-coding ENSG00000136379 26925 VALIDATED 1321686 ABHD3 abhydrolase domain containing 3 This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq, Jul 2008] 18 18 18 q11.2 16036856 16090764 - 17484856 17538724 - 19230858 19284766 - 6480464 12477932;11922611;9110174;8619474;16344560;15489334;17207965;21890473;21906983;22359512 171586 B7Z5C2;J3KSP1;J3KTE1;J3QQR0;J3QR14;Q8WU67 ABBA01022676;ABBA01022677;ABBA01022678;AC106037;AF007152;AK024880;AK024992;AK298728;AMYH01008876;BC021196;CH471088;DB126083;EF444943;NM_138340 AAC19155;AAH21196;ACA05928;ADQ32713;BAH12858;EAX01131;NP_612213;Q8WU67 Hs.397978 1689943;2139451;2172271;2178357 RH45853;RH46292;RH46524;SHGC-64279 LABH3;MGC11259 abhydrolase domain-containing protein 3;alpha/beta hydrolase domain containing protein 3;lung alpha/beta hydrolase 3 APPROVED protein-coding ENSG00000158201 18718 12405 612197 REVIEWED 1313870 ABHD8 abhydrolase domain containing 8 This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008] 19 19 19 p13.11 17304682 17316010 - 17263940 17275282 - 17402940 17414282 - 737633;1580863;6480464 12477932 16344560;15489334;14702039;20852631;8125298 79575 B2C6G3;M0QX40;M0QZA8;Q96I13 ABBA01051191;ABBA01051192;AC010463;AK021805;AK225140;AK225340;AK298251;AK315366;AMYH01009570;BC007895;BC011536;BC020173;BC039087;CH471106;DA137174;DA357595;EU285559;NM_024527 AAH07895;AAH20173;AAH39087;ABZ79723;BAB13900;BAG37759;BAG60516;EAW84589;NP_078803;Q96I13 Hs.515664 2218968 ABHD8__4234 FLJ11743;MGC14280;MGC2512 abhydrolase domain-containing protein 8 APPROVED protein-coding ENSG00000127220 23759 12409 VALIDATED 1322825 ABHD2 abhydrolase domain containing 2 This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 15 15 15 q26.1 66032695 66146881 + 87432429 87546591 + 89631381 89745591 + 1580863;6480464 18029348;17980156;16344560;15489334;14702039;12477932;11922611;8125298;2843827;16751776;20007591;21890473;21906983;21963094;23000965;23251661;22505724 11057 H3BMT2;H3BN19;H3BUZ6;P08910 ABBA01053004;ABBA01053005;ABBA01053006;AC013565;AC124068;AF546700;AI916724;AI918734;AK000554;AK095685;AK125089;AK127559;AK222841;AK223083;AK290340;AK296827;AL109729;AL110291;AMYH01006912;AMYH01006913;BC017905;BC019248;BC090052;BI459790;BI464471;CH471101;CR749694;DB024314;DB049736;DC369843;DC397201;DQ574578;DQ576078;NM_007011;NM_152924;X12433 AAH19248;AAH90052;AAQ12021;ABM82555;ABW03395;BAD96561;BAD96803;BAF83029;BAG59397;CAA30976;EAX02033;EAX02034;EAX02035;NP_008942;NP_690888;P08910 Hs.122337 1663281;1680731;1689586;1794362;2113178;2131388;2138807;5014585;5109281 D15S1499;D1S1425;G27598;PMC311040P2;RH18085;RH66720;RH93467;STS-N68085;STS-R00701 HS1-2;LABH2;MGC111112;MGC26249;PHPS1-2 OTTHUMP00000192923;abhydrolase domain-containing protein 2;alpha/beta hydrolase domain containing protein 2;lung alpha/beta hydrolase 2;protein PHPS1-2 APPROVED protein-coding ENSG00000140526 18717 09791 612196 REVIEWED 1342875 ABHD5 abhydrolase domain containing 5 The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008] 3 3 p21 43707379 43735296 + 43732375 43764217 + 1598668;1580863;6480464;7240710 11590543 21122093;18832586;18606822;18339307;17631826;17495960;17308334;16679289;15967942;15489334;12477932;10810093;9110174;8619474;22383684;22373837;20307695;20520629;15136565;19061969;19401457;20370797;21757733;20467438;21963094;21139048;22245374 51099 C9J1D1;C9JBM3;F8W7B5;H7BZY9;Q8WTS1 ABBA01024758;AC105903;AF007132;AF151816;AK313811;AL606838;AMYH01013118;BC021958;BG721387;CH471055;NG_007090;NM_016006 AAD34053;AAH21958;ABM82101;ABM85283;BAG36547;CAD12731;EAW64699;NP_057090;Q8WTS1 Hs.19385 1648190;1651198;1659921;1691110;1771552;1853426;1855237;2112576;2138224;2157934;2162315;2174310 D3S3021;D3S4348;RH69765;RH79809;SHGC-57882;SHGC-76877;SHGC-76879;SHGC-76892;SHGC-76893;STS-F10866;STS-N63539;WI-14732 CDS;CGI58;IECN2;MGC8731;NCIE2 1-acylglycerol-3-phosphate O-acyltransferase ABHD5;OTTHUMP00000164033;abhydrolase domain-containing protein 5;lipid droplet-binding protein CGI-58 APPROVED protein-coding 21396 05308;11986 275630;604780 REVIEWED 1323534 ABHD4 abhydrolase domain containing 4 14 14 14 q11.2 2930195 2944309 + 22136987 22151105 + 23067147 23081265 + 1580863;6480464 18029348;16818490;15489334;14702039;12477932;22488300;21900206;21139048;21890473 63874 B4DDH7;F5GZC9;F5H067;F5H6T0;H0YFD5;J3KMW0;Q8TB40 ABBA01061280;AK022878;AK024790;AK293198;AK298127;AK301315;AL160314;AMYH01005597;BC024779;CH471078;NM_022060 AAH24779;BAB14289;BAG56738;BAG60407;BAG62866;EAW66251;NP_071343;Q8TB40 Hs.445665 1652408;1676444 D14S1350;RH91439 ABH4;FLJ12816 OTTHUMP00000164495;OTTHUMP00000239718;abhydrolase domain-containing protein 4;alpha/beta-hydrolase 4;lyso-N-acylphosphatidylethanolamine lipase protein-coding ENSG00000100439 20154 12406 VALIDATED 1351473 ABI1P1 abl-interactor 1 pseudogene 1 14 14 14 q22.3 36062590 36066392 + 55082979 55086654 + 56013277 56017081 + 326268 ABBA01018212;AL138499;AMYH01005748;NG_002531 1731627 D14S178 ABI1P;SSH3BP1P APPROVED pseudo 20035 INFERRED 1351429 ABHD6 abhydrolase domain containing 6 3 3 3 p14.3 58237772 58295009 + 58198349 58255501 + 58223259 58280461 + 6480464 16344560;15489334;14702039;12477932;8125298;18360779;19793082;22827915;22969151;21139048;21906983;22505724 57406 C9J010;C9JNE7;F8WBP4;Q9BV23 ABBA01024391;ABBA01024392;AC098479;AC137936;AF225418;AK122983;AK172797;AK225942;AK313168;AMYH01013228;BC001698;CH471055;DA266414;NM_020676 AAG09720;AAH01698;BAD18771;BAG35986;BAG53832;EAW65360;EAW65361;EAW65362;EAW65363;EAW65364;EAW65365;NP_065727;Q9BV23 Hs.476454 1679305;1784834;5115035;5115037 G20643;RH80347;SHGC-155512;STS-G20643 2-arachidonoylglycerol hydrolase;OTTHUMP00000214181;OTTHUMP00000214182;abhydrolase domain-containing protein 6;lipase protein;monoacylglycerol lipase ABHD6 protein-coding ENSG00000163686 21398 12407 VALIDATED 1604650 ABI1 abl-interactor 1 This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011] 10 10 p11.2 27075531 27189965 - 27035525 27150016 - 6480464;6484113 15489334;15164054;15048123;12681507;12672821;12665801;12547160;12522270;12477932;12127568;12011975;11956071;11557983;11418237;11099046;11034908;11003655;10995551;10499589;9694699;1049958;14565974;15696170;9593709;9010225;17101133;18328268;17951403;17943163;17501982;17081983;16899465;16225669;16182283;15893754;15769844;15657136;15591787;20479892;20598684;11516653;15032605;15289329;16055720;16344560;16385451;19158278;19843640;20110575;20193272;8943360;19554484;16417406;21118970;21320496;20137729;22939629;21875946;21078624;21900237;21139048;22014333;22430194;17395426;21046228;22808230;22505724 10006 A6NFN2;B6VEX3;B6VEX4;B6VEX5;F5H1G9;F8WA55;F8WA56;Q96S81 AB040151;AB209268;ABBA01034409;ABBA01034410;ABBA01034411;ABBA01034412;AF001628;AF006516;AF260262;AF540955;AJ277065;AK126803;AK291823;AK296751;AK298646;AK315914;AL139404;AL390961;AMYH01002201;AMYH01002202;AMYH01002203;BC013238;BC024254;CH471072;DB019974;FJ380057;FJ380058;FJ380059;NG_030025;NM_001012750;NM_001012751;NM_001012752;NM_001178116;NM_001178119;NM_001178120;NM_001178121;NM_001178122;NM_001178123;NM_001178124;NM_001178125;NM_005470;U87166 AAB62569;AAC39757;AAD00897;AAF70309;AAH24254;AAN28379;ACJ12783;ACJ12784;ACJ12785;BAB55675;BAD92505;BAF84512;BAG54374;BAG59334;BAG60820;BAH14285;CAB88006;EAW86077;EAW86078;EAW86079;EAW86080;EAW86081;EAW86082;EAW86083;NP_001012768;NP_001012769;NP_001012770;NP_001171587;NP_001171590;NP_001171591;NP_001171592;NP_001171593;NP_001171594;NP_001171595;NP_001171596;NP_005461;Q8IZP0 Hs.508148 1341485;1716593;1755173;2189895;5123927 99-1126;D10S593;RH121642;SHGC-142094;WI-15761 ABI-1;ABLBP4;E3B1;NAP1BP;SSH3BP;SSH3BP1 Abelson interactor 1;Abl-interactor protein 1 long;OTTHUMP00000019348;OTTHUMP00000019349;OTTHUMP00000019350;OTTHUMP00000019351;OTTHUMP00000019352;OTTHUMP00000019353;OTTHUMP00000019354;OTTHUMP00000019355;abl interactor 1;abl-binding protein 4;ablBP4;eps8 SH3 domain-binding protein;eps8 binding protein;eps8-binding protein;interactor protein AblBP4;nap1 binding protein;nap1-binding protein;spectrin SH3 domain binding protein 1;spectrin SH3 domain-binding protein 1 APPROVED protein-coding ENSG00000136754 11320 04336 603050 REVIEWED 1323432 ABI3 ABI family, member 3 This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates Rac-dependent actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. [provided by RefSeq, Sep 2008] 17 17 17 q21.3 43742068 43755066 + 44642588 44655586 + 47287589 47300587 + 6480464 11501947;11956071;17101133;16381901;16189514;15489336;15489334;12477932;12011975;11230166;11076863;10978530;21223585;11256614;19060904;23382691 51225 I3L1X2;I3L3W4;Q9P2A4 AA808681;AB037886;ABBA01041192;ABBA01041193;AC004797;AC069454;AL136709;AMYH01008460;BC007780;BI768790;CH471109;NM_001135186;NM_016428 AAH07780;ABM84016;ABM87361;BAA90667;CAB66644;CAL37657;CAL37800;EAW94687;NP_001128658;NP_057512;Q9P2A4 Hs.130719 NESH;SSH3BP3 ABI gene family member 3;ABI gene family, member 3;OTTHUMP00000220013;OTTHUMP00000220014;new molecule including SH3 APPROVED protein-coding ENSG00000108798 29859 05900 606363 REVIEWED 1353143 ABI2 abl-interactor 2 2 2 q33 203901248 204005137 + 204193003 204296892 + 1580863;6480464 7590236;8649853;12011975;11516653;17101133;19158278;18632609;17903303;17389688;16488906;15489334;15146197;14702039;12477932;10995551;10964520;10498863;12463424;10858458;12569093;16189514;15509564;22863883;17043677;22304832;21862451;21139048;22745667;22505724 10152 E7EP65;E7EUA1;E7EW77;E9PEZ7;F8WAL6;F8WAQ3;F8WAU3;F8WAZ8;F8WBL5;F8WCD7;F8WEB9;H0Y6B5;H7C3Q7;J3KNB2;Q9NYB9 ABBA01062610;ABBA01062611;ABBA01062612;AC018891;AC080075;AF085867;AF260261;AK054863;AK294429;AK297537;AK299092;AK299672;AK299679;AK299688;AK299750;AK299824;AK302853;AK316000;AK316343;AMYH01011416;BC001439;BC033944;BT009920;CH471063;CN371368;DB455742;NM_005759;U23435;U31089;X95632 AAA75446;AAA92289;AAF70308;AAH01439;AAP88922;AAY14675;AAY14935;ABM81661;ABM84833;BAG57674;BAG59937;BAG61587;BAG61640;BAG61693;BAH12947;BAH13098;BAH13103;BAH13822;BAH14371;BAH14714;CAA64885;EAW70335;EAW70336;EAW70337;EAW70338;EAW70339;EAW70340;EAW70341;EAW70342;EAW70343;NP_005750;Q9NYB9 Hs.471156 1657846;1665404;1677694;1727213;1728859;1760785;2109019;2146492;2162333;5022578 ABI2_9049;D1S1423;G54499;G62861;RH68335;RH79129;RH93388;SHGC-144302;SHGC-14739;SHGC-62017 ABI-2;ABI2B;AIP-1;AblBP3;SSH3BP2;argBPIA;argBPIB OTTHUMP00000163783;OTTHUMP00000163784;OTTHUMP00000206182;OTTHUMP00000206183;OTTHUMP00000206184;OTTHUMP00000206185;abelson interactor 2;abl binding protein 3;abl interactor 2;abl-binding protein 3;abl-interacting protein 1 (SH3-containing protein);abl-interactor protein 2b;arg protein tyrosine kinase-binding protein;arg-binding protein 1;argBP1 protein-coding ENSG00000138443 24011 606442 VALIDATED 1342972 ABL1 c-abl oncogene 1, non-receptor tyrosine kinase The ABL1 protooncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in processes of cell differentiation, cell division, cell adhesion, and stress response. Activity of c-Abl protein is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. The t(9;22) translocation results in the head-to-tail fusion of the BCR (MIM:151410) and ABL1 genes present in many cases of chronic myelogeneous leukemia. The DNA-binding activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function for ABL1. The ABL1 gene is expressed as either a 6- or 7-kb mRNA transcript, with alternatively spliced first exons spliced to the common exons 2-11. [provided by RefSeq, Jul 2008] 9 9 q34.1 132579089 132752883 + 133589268 133763062 + 1580863;1598673;6480464;6484113;6907045 3021820 17192257;16912036;10945997;8114715;22311485;22454521;22847163;19108887;19075013;19061839;19052872;19048492;19020542;19016792;19001122;18950845;18936177;18827185;18809728;18794796;18784740;18775312;18771174;18765637;18704194;18687796;18619508;18603549;18546844;18538733;18490454;18480061;18480060;18427551;18413724;18406870;18401414;18391983;18369471;18362889;18339898;18305550;18305217;18287094;18262060;18180382;18161990;18095154;18089786;18082628;18059481;18036399;17972958;17943163;17928051;17925491;17893873;17889935;17804707;17768119;17764157;17762503;17761812;17710227;17695727;17638918;17623672;17620332;17604596;17599053;17597804;17587335;17579186;17570524;17541395;17525531;17486070;17470736;17470729;17374743;17366548;17349636;17347407;17339230;17303698;17268511;17252009;17237826;17196995;9144171;8242749;11971963;10391249;12893824;12944467;19442657;19427856;19383348;19332026;19285032;19275932;19260121;19234221;19203793;19180499;19156526;19135771;19124506;17160020;17126298;17101133;17081983;16998483;16966279;15661746;15657136;15657060;15626746;15608616;15591787;15588985;15583852;15542838;15481444;15361874;15175272;15143187;14993251;14966468;14745431;14679214;14670960;14657955;14581377;14534537;14527680;12952226;16899465;16867995;16678104;16636310;16630659;16543148;16448696;16410245;16386788;16205638;16199863;16158059;16151465;16091742;16014719;15961388;15857938;15735728;15723338;15716990;15696159;15686624;12928501;12921956;12890867;12824179;12810679;12781448;12777400;12777393;12764153;12672821;12665579;12663457;12654250;12650908;12637538;12623848;12573241;12569093;12560071;12556557;12525554;12522270;12505259;12477932;12475393;12468540;12445832;12408765;12393636;12384576;12379650;12374739;12374288;12220663;12198159;12149456;12144533;12138893;12130516;12110584;12024016;12021275;11956190;12950161;12130510;11955625;11891774;11853795;11840343;11781820;11780146;11741929;11708318;11598012;11593427;11509666;11494134;11494128;11423618;11420673;11418237;11390389;11380621;11375976;11374898;11350980;11309382;11279131;11278340;11266449;11163214;11121037;11120811;11024037;11021760;10988075;10970852;9516488;9480911;9461559;9407116;9356459;9334312;9315092;9312071;9211900;9168117;9168116;9111318;9067577;9010225;8943360;8879209;8875975;8692915;8668151;8668148;8630736;8629002;8590002;8453102;8438166;9583676;8194526;10892742;10849448;10777567;10713716;10708759;10679771;10637231;10635328;10629029;10574931;10567556;10488096;10455176;10391251;10391250;10212258;10194451;10187839;9949177;9798959;9698566;9642287;9632734;9603926;9593709;10896159;7892170;7828850;7780740;7760813;7665185;7590236;7545908;7533294;7512963;7493940;6323103;6319012;6316147;6302194;6281890;6191223;4062888;3471171;3313010;3023859;3021337;2989703;2989692;2825022;2687768;2678002;2542016;2193202;2183353;2163052;1868241;1857987;1538749;1505033;1383690;1379745;1281542;7926767;9820532;8978305;9747873;9006901;11827972;8810278;9774693;10753870;11071635;9008161;12543778;8112292;1712671;11431473;11790798;9071815;9872323;7565761;10608806;8294442;12681507;15886098;15735735;9632788;10571082;21454413;17409407;21183952;21220745;21072043;12626632;20581864;21266020;19697154;20367437;20595523;20563669;10837221;12107171;12379115;14725908;16219545;16648821;16831423;16888623;17129785;17254966;17474147;17888034;17956664;18280240;18614052;19261608;19295548;19357699;19363261;19369965;19423701;19542604;19557636;19571320;19608682;19625707;19643477;19652056;19657362;19658100;19660459;19679652;19724931;19738611;19789182;19829692;19833721;19876398;19897486;19906645;19914245;19954044;20007699;20010464;20038234;20056178;20073070;20079431;20082857;20124512;20152788;20201926;20234815;20453000;20512393;20425353;20482842;20633771;20861316;20697350;19768693;20974687;20585028;20629032;20598684;20697894;20823226;15923648;19968720;20717963;20724541;20937825;18029348;20452982;21239056;21435002;21156844;20863169;21480391;12167702;15937340;21045136;21320496;22231445;22957062;22974441;8626527;22733220;22879933;22939629;22233112;22988030;21203397;21674858;21321929;21388681;21888027;21504383;21641753;21781306;21715626;21935931;23117882;21248063;21591355;21527514;9037071;21129254;21693657;21209200;21961412;21998569;20798688;21764785;20675402;21694468;21900237;21071472;21903771;21960589;15556646;8626543;9195915;9710592;22665066;23325923;19953087;22001646;22238610;22252550;22783572;21461967;22526369;22590567;10372803;10829062;16955467;19531213;19818398;19823681;19891780;21221851;22327338;22447844;22462553;22591684;22593461;22649097;19700222;21455220;22014333;22054731;22089930;22140458;22184410;22380496;22327125;22314255;22378042;21368377;21892207;22471662;23044928;16135792;18235045;22334513;22693568;7968380;8524328;9174058;16273093;17352427;18067320;22939624;23171811;23009571;23207522;23383002;23316053;23062104;23289634;22038725;22833565;22952603;23428668;23062378;23303187;23319661;1571536;22782217;9478921;23223358;23053188;23124138;22870928;23269583;10967110;14604282;18070606;18559503;18835194;19380743;20585556;22632162;22787435;22865780;23087049;23287430 25 P00519;Q13688;Q59FK4;R4GRW0 AA524892;AB209456;AB209642;ABBA01012061;ABBA01012062;ABBA01012063;ABBA01012064;ABBA01012065;ABBA01012066;ABBA01012067;AK294983;AL161733;AL359092;AL707819;AMYH01021772;AMYH01021773;AMYH01021774;BC107069;BC107070;BC117451;CA335983;CH471090;DQ145721;K00009;M14752;M14753;M14754;M25946;M25949;M30833;NG_012034;NM_005157;NM_007313;S69223;U07563;X16416 AAA35593;AAA35697;AAA51561;AAA51562;AAA51563;AAA51895;AAA88011;AAA88012;AAB60393;AAB60394;AAD14034;AAI07070;AAI07071;AAI17452;AAZ38718;BAD92693;BAD92879;BAG58052;CAA34438;EAW87947;EAW87948;EAW87949;NP_005148;NP_009297;P00519 Hs.431048 1677344;1699810;1741183;1741185;1741553;1793278;1850251;2106941;2119400;2131484;2147020;5017629;5093008;5119529 A009E06;ABL1_685.2;BCR;G29321;G32466;GDB:177067;GDB:178527;GDB:178528;GDB:181505;PMC20354P4;RH103512;RH69429;RH80013;WI-12399 ABL;JTK7;bcr/abl;c-ABL;p150;v-abl Abelson tyrosine-protein kinase 1;OTTHUMP00000022375;OTTHUMP00000022376;bcr/c-abl oncogene protein;c-abl oncogene 1, receptor tyrosine kinase;proto-oncogene c-Abl;proto-oncogene tyrosine-protein kinase ABL1;tyrosine-protein kinase ABL1;v-abl Abelson murine leukemia viral oncogene homolog 1 APPROVED protein-coding ENSG00000097007 76 01809 189980 REVIEWED 1352263 ABL2 c-abl oncogene 2, non-receptor tyrosine kinase This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009] 1 1 q25.2 177335085 177465390 - 179068462 179198819 - 1580863;6480464;6907045 15886098;17474147;12893824;2198571;19275932;18810762;18660502;17192257;17081983;16710414;16678104;16344560;15765532;15729383;15679048;15489334;14702039;12950161;12777400;12748290;12569093;12522270;12477932;12406085;12374288;12220663;12198159;11956190;11494128;11278261;10706884;10590083;10521789;9642287;9480911;9211900;8875975;8700546;8125298;3787260;1383690;21543883;21892207;22318606;9774693;15735735;17910947;10892742;20077570;20448119;16751776;20150913;20936779;19913121;20628086;20800603;21257711;22974441;22777352;19953087;22036096;19380743;16273093;16964398;18067320;20467438;21988832 27 Q6NZY6 ABBA01027819;ABBA01027820;ABBA01027821;ABBA01027822;ABBA01027823;ABBA01027824;AK025877;AK056280;AK225255;AK309549;AK311045;AL139132;AL359179;AL512326;AMYH01001529;BC065912;BQ014912;BX538317;CH471067;DA596675;DB280398;DQ009672;FJ542283;FJ542284;FJ542285;FJ542286;M14904;M35296;NG_028242;NM_001136000;NM_001136001;NM_001168236;NM_001168237;NM_001168238;NM_001168239;NM_005158;NM_007314 AAA35553;AAH65912;AAY16984;ACK76601;ACK76602;ACK76603;ACK76604;CAD98092;EAW91040;EAW91041;NP_001129472;NP_001129473;NP_001161708;NP_001161709;NP_001161710;NP_001161711;NP_005149;NP_009298;P42684 Hs.159472 1649128;1652365;1652367;1659077;1701674;1708152;1771838;1795280;2134124;2146281;5015619;5015861;5016478;5021872;5022200;5022578;5024039;5114087;7185938 A005M30;ABL2_197;D10S16;D11S3114;D16S325;D1S1423;G20336;GDB:434012;L18426;RH104509;RH66836;RH69130;SGC38261;SHGC-75958;SHGC-75959;SHGC-75998;SHGC-79323;sY3084 ABLL;ARG;FLJ22224;FLJ31718;FLJ41441 Abelson murine leukemia viral (v-abl) oncogene homolog 2;Abelson tyrosine-protein kinase 2;Abelson-related;OTTHUMP00000033139;OTTHUMP00000033140;OTTHUMP00000218101;OTTHUMP00000218102;OTTHUMP00000218103;OTTHUMP00000218104;OTTHUMP00000218105;OTTHUMP00000218106;OTTHUMP00000218107;OTTHUMP00000218108;OTTHUMP00000240781;abelson murine leukemia viral oncogene homolog 2;abelson-related gene protein;arg tyrosine kinase;tyrosine-protein kinase ABL2;tyrosine-protein kinase ARG;v-abl Abelson murine leukemia viral oncogene homolog 2;v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene) 2292936;2293000 PRSTS117_H;PRSTS118_H APPROVED protein-coding ENSG00000143322 77 01259 164690 REVIEWED 1349467 ABI3BP ABI family, member 3 (NESH) binding protein 3 3 3 q12 98859820 99104005 - 101950869 102195004 - 100468179 100712334 - 6480464 12477932;19338757;19240061;18559958;16344560;16205947;15752759;15489334;14702039;11501947;20936779;21041247;17314511;22952844 25890 B4DSV9;D3YTG3;E9PPR9;E9PRB5;H0Y897;H0YCG4;H0YCP4;H0YDN0;H0YDW0;H0YEA0;H0YEL2;H0YF18;H0YF57;H7C4H3;H7C4N5;H7C4S3;H7C4T1;H7C4X4;H7C524;H7C556;H7C5S3;Q5JPC9;Q7Z7G0 AB056106;ABBA01061780;ABBA01061781;ABBA01061782;ABBA01061783;ABBA01061784;ABBA01061785;ABBA01061786;AC068763;AC069223;AC080014;AC093009;AC106721;AK025204;AK093861;AK123737;AK123748;AK299938;AL117664;AL162038;AL833204;AMYH01013358;AMYH01013359;BC030221;BX648726;CH471052;DA342832;NM_015429 AAH30221;ACE86781;ACE87467;BAB15083;BAB32867;BAC85685;BAC85687;BAG52776;BAG61771;CAB56034;CAI46190;EAW79804;EAW79805;EAW79806;EAW79807;EAW79808;EAW79809;EAW79810;EAW79811;NP_056244;Q7Z7G0 Hs.477015 1654748;1659349;1704584;1715791;1750157;2109921;2118113;2146011;2166971;2175154;5022200;5037552;5094430 D3S3966;D3S4006;D8S2279;G54792;L18426;RH119344;SHGC-112259;SHGC-36323;SHGC-57683;SHGC-77160;SHGC-77161;SHGC-83101;TARSH_9425 FLJ41743;FLJ41754;NESHBP;TARSH ABI gene family member 3-binding protein;ABI gene family, member 3 (NESH) binding protein;OTTHUMP00000214054;nesh-binding protein;target of Nesh-SH3 protein-coding ENSG00000154175 17265 09380 606279 VALIDATED 1346152 ABLIM1 actin binding LIM protein 1 This gene encodes a cytoskeletal LIM protein that binds to actin filaments via a domain that is homologous to erythrocyte dematin. LIM domains, found in over 60 proteins, play key roles in the regulation of developmental pathways. LIM domains also function as protein-binding interfaces, mediating specific protein-protein interactions. The protein encoded by this gene could mediate such interactions between actin filaments and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 10 10 10 q25 109920119 110173614 - 116180859 116434404 - 116190869 116444414 - 1580863;6480464 9245787;16189514;17081983;16094384;15592455;15570572;15489334;15324660;15302935;15144186;15024025;14702039;12477932;12168954;9417918;8889548;7584044;7566098;15778465;16385451;20936779;20970119;16712791;20549515;21832049;21139048;21547531;22219177;17194709;17979178;23000965;23251661 3983 B3KSG3;B3KVH2;F6XFR5;F8W8M4;H0Y3K7;H0Y7N6;J3QSX6;Q5JVV3;Q5T6N2;Q5T6N4;Q5T6N5 AA314019;ABBA01062975;ABBA01062976;ABBA01062977;ABBA01062978;AF005654;AI680726;AK054890;AK057834;AK058007;AK093471;AK098277;AK122891;AK297344;AK298709;AL133384;AL354873;AL590109;AL600892;AL710059;AL712271;AMYH01003089;AW627433;BC002448;BE395092;BE672277;BG426037;BQ721521;CA450184;CB128609;CD558045;CH471066;CR749819;D31883;NG_029872;NM_001003407;NM_001003408;NM_002313;NM_006720 AAC51676;AAH02448;BAA06681;BAG52725;BAG53605;BAG53784;BAG60865;BAH12557;CAH18679;EAW49467;EAW49468;EAW49469;NP_001003407;NP_001003408;NP_002304;NP_006711;O14639 Hs.438236;Hs.538331;Hs.593868 1337480;1657654;1660875;1666337;1670114;1678619;1715633;1724745;1736016;1762207;1762883;1772270;2132510;2143472;2181155;2181157;5015961 D10S1158;D10S1298E;D10S1336E;D10S2292;D15S1477;G15970;RH119261;RH122579;RH25292;RH44627;RH66528;RH91180;SGC30280;SHGC-146082;SHGC-146643;SHGC-35224;SHGC-53066 ABLIM;DKFZp781D0148;FLJ14564;KIAA0059;LIMAB1;LIMATIN;MGC1224;abLIM-1 LIM actin-binding protein 1;OTTHUMP00000020530;OTTHUMP00000020531;OTTHUMP00000020532;OTTHUMP00000020533;OTTHUMP00000020534;OTTHUMP00000020535;OTTHUMP00000020536;OTTHUMP00000020537;abLIM-1;actin-binding LIM protein 1;actin-binding LIM protein family member 1;actin-binding double zinc finger protein;actin-binding double-zinc-finger protein APPROVED protein-coding ENSG00000099204 78 03819 602330 REVIEWED 1349528 ABLIM2 actin binding LIM protein family, member 2 4 4 4 p16.1 7868198 8052469 - 8017938 8211459 - 7967037 8160559 - 6480464 17194709;16005990;15489334;14702039;12477932;11347906;10737800;9847074;8889548;20379614;18029348;20936779 84448 D6RAL0;F5GYR0;F5GZL6;F8W6D8;Q8N9G2 AB058711;ABBA01008684;ABBA01008685;ABBA01008686;ABBA01008687;ABBA01008688;AC097381;AC104650;AC114807;AJ748600;AJ748601;AK094754;AK094798;AK097003;AK130044;AK301060;AL834195;AMYH01013927;AMYH01013928;BC067214;BC122567;BE155865;BM718728;BQ005420;BQ267829;CH471131;DB499366;DB570494;DQ413176;DQ413177;NM_001130083;NM_001130084;NM_001130085;NM_001130086;NM_001130087;NM_001130088;NM_032432 AAH67214;AAI22568;AAY40931;ABD83329;ABD83330;BAB47437;BAC04414;BAC04427;BAC85284;BAH13400;CAD38885;CAG38375;CAG38376;EAW82357;EAW82358;NP_001123555;NP_001123556;NP_001123557;NP_001123558;NP_001123559;NP_001123560;NP_115808;Q6H8Q1 Hs.233404 1646720;1663717;1666646;1666648;1676762;1695092;1752597;1756579;1762609;1762807;1765173;1780072;1791994;1851383;2169573;2185501;5037552 D4S1080;D4S2720;D4S658;D8S2279;G31621;PMC134465P1;RH75474;SHGC-106487;SHGC-143614;SHGC-146415;SHGC-146585;SHGC-148684;SHGC-154324;SHGC-24205;SHGC-51226;SHGC-59833;SHGC-67378 DKFZp761F129;FLJ26534;FLJ39684;KIAA1808;MGC141918 OTTHUMP00000217347;OTTHUMP00000217348;OTTHUMP00000217356;OTTHUMP00000217357;OTTHUMP00000219315;OTTHUMP00000219317;OTTHUMP00000219318;abLIM-2;actin binding LIM protein 2;actin-binding LIM protein 2;actin-binding LIM protein family member 2 protein-coding ENSG00000163995 19195 612544 VALIDATED 5013939 ABT1P1 activator of basal transcription 1 pseudogene 1 4 4 97240941 97241755 - 99943465 99944279 - 100420695 ABBA01063668;AC019131;AMYH01014419;NG_025142 1686608 RH91583 pseudo 39557 INFERRED 1354406 ABLIM3 actin binding LIM protein family, member 3 The LIM domain is a double zinc finger structure that promotes protein-protein interactions. LIM domain proteins, such as ABLIM3, play roles in embryonic development, cell lineage determination, and cancer (Krupp et al., 2006 [PubMed 16328021]).[supplied by OMIM, Mar 2008] 5 5 5 q32 144603161 144721993 + 148501247 148620192 + 148521054 148639999 + 1580863;6480464 17194709;17081983;16381901;16328021;15489336;15489334;15342556;15337165;15221005;12477932;11230166;11076863;10048485;8125298 22885 D6RHE7;O94929 AB020650;AB075881;ABBA01026307;ABBA01026308;ABBA01026309;ABBA01026310;AC012613;AC091940;AK098469;AK225769;AK289736;AL833021;AMYH01015700;BC001665;BC014463;BP285049;CH471062;DQ413174;NM_014945 AAH01665;ABD83327;BAA74866;BAD38663;BAF82425;CAH56270;CAL37473;CAL37581;CAL37722;CAL37724;CAL37743;CAL37768;CAL37808;CAL37810;CAL37841;CAL37876;CAL37977;CAL37979;CAL37994;CAL38031;CAL38039;CAL38101;CAL38162;CAL38196;CAL38279;CAL38283;CAL38290;CAL38300;CAL38309;CAL38401;CAL38431;CAL38436;CAL38440;CAL38531;CAL38534;CAL38558;CAL38598;CAL38631;CAL38632;CAL38668;CAL38695;EAW61788;EAW61789;EAW61790;EAW61791;EAW61792;NP_055760;O94929 Hs.49688 1693820;1714293;1772429;1780606;2123354;2135616;2145385;2218172 ABLIM3__4236;D18S491;D5S1897;G16917;L28244;RH119927;SHGC-56609;bac51369T HMFN1661 OTTHUMP00000160385;OTTHUMP00000223934;OTTHUMP00000223936;OTTHUMP00000223937;OTTHUMP00000223938;abLIM-3;actin-binding LIM protein 3;actin-binding LIM protein family member 3 APPROVED protein-coding ENSG00000173210 29132 12411 611305 VALIDATED 730884 ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 q34.2 135120384 135140451 - 136130563 136150630 - 1580863;2317512;2317510;5128834;2317511;5128835;5128831;5128832;5128833;5128836;6480464;6907045 7795450;20181960;2142987;20103627;19771478;16008680;15784866;9036208;6189297 19278955;19276450;19169360;19078892;19054377;18940312;18712158;18680548;18651204;18604267;18600088;18521502;18464913;18426679;18387978;18273824;18247104;18215251;18173836;18156754;18078207;18067502;18067076;18063521;18028481;18027815;18003641;17994314;17764507;17642512;17531777;17393014;17311872;17298125;17259183;17209060;17140342;17130965;17119126;17107352;17076855;17036929;17002642;16956829;16871363;16859949;16722361;16686845;16631357;16403294;16239542;16215642;16181218;16176058;16081582;15987364;15880137;15847653;15819691;15819453;15783300;15754970;15751650;15735796;15648786;15606555;15300625;15166945;15104652;15009807;14979340;14750174;14617382;14569463;14516453;12829588;12786998;12760254;12673421;12587416;12560669;12529355;12519432;12477932;12198488;12151392;11998221;11961233;11939260;11856466;11520811;11436564;11398963;11345596;11061869;10666229;10462501;9800297;9325321;9175793;8928487;8873422;8839869;8641696;8484250;8456556;7779106;7772867;7598760;7488159;6770676;5442829;4831233;4831223;2333095;2121736;2104828;2104827;1520322;1449469;1429528;618875;184030;22895189;16686846;21070754;21502573;21533024;21306478;19110300;19470260;19474452;19490215;19648918;19729612;20003128;20017223;20066004;20147318;20167578;20231535;20371059;20373852;20459687;20514537;20529992;20456702;20576794;20197725;19913121;20154292;20532885;20628086;20648472;20666915;20677133;20971884;20703243;21239051;21378990;21144789;21560847;22664149;22642827;22258027;23381943;22963146;21729554;22010135;22125638;20686565;21841780;21886157;21909109;21980494;22001757;22291609;22387998;22672568;22703881;23300549;23382263;23056639;23222517;23251661;23300138;23408906;23319424;23267103 28 Q99484;Q9UQ67 AB052641;AB052642;AB052643;AB052644;AB052650;AB052651;AB180254;AB180256;AB180257;AB180258;AB180259;AB180260;AB180261;AB180262;AB180263;AB180264;AB180265;AB180266;AB180267;AB180268;ABBA01032466;AC000397;AF006673;AF016622;AF016624;AF016625;AF062486;AF062487;AF134412;AF134413;AF134414;AF134415;AF134416;AF170888;AF170889;AF170890;AF170892;AF170893;AF324006;AF324007;AF324008;AF324009;AF324010;AF324011;AF324012;AF324013;AF324014;AF324015;AF324016;AF324017;AF324018;AF324019;AF324020;AF408431;AF448199;AF448200;AJ276686;AJ276687;AJ276688;AJ276689;AJ426048;AJ426063;AJ426064;AJ536122;AJ536123;AJ536124;AJ536125;AJ536126;AJ536127;AJ536128;AJ536129;AJ536130;AJ536131;AJ536132;AJ536134;AJ536135;AJ536136;AJ536137;AJ536138;AJ536139;AJ536148;AJ536150;AJ536152;AJ536153;AJ920329;AJ973608;AK302203;AL158826;AL732364;AL772161;AM040939;AM231715;AM423110;AM492698;AMYH01021799;AV761252;AY268591;AY336599;AY373436;AY377125;AY442168;AY510089;AY512679;AY513233;AY579471;AY590127;AY611640;AY611641;AY727862;AY805749;AY805750;BC069595;BC069605;BC069814;BC111575;CH471090;D82835;D82836;D82837;D82838;D82839;D82840;D82841;D82842;D82843;D82844;D82845;DQ092379;DQ092380;DQ092381;DQ100313;DQ124678;DQ124679;DQ139865;DQ321372;DQ321373;DQ323500;DQ323501;DQ323502;DQ323503;DQ407740;EU366315;FJ599810;FJ851691;FJ851692;FR691751;FR691752;GU169167;GU169168;GU169169;GU169170;GU169171;GU169172;GU169173;GU199604;GU199605;GU592505;GU592506;GU592507;J05175;JN791441;JX398330;JX398331;JX398332;JX398333;JX519569;JX519570;NG_006669;NM_020469;S44054;U15197;U15198;U22302;X84746 AAA36792;AAB23167;AAB69195;AAB86462;AAB86464;AAB86465;AAC13777;AAC50121;AAC99327;AAC99328;AAD14781;AAD26572;AAD26573;AAD26574;AAD51648;AAD51649;AAD51650;AAD51651;AAD51652;AAH69595;AAH69814;AAI11576;AAL37338;AAL37339;AAL37340;AAL37341;AAL37342;AAL37343;AAL37344;AAL37345;AAL37346;AAL37347;AAL37348;AAL37349;AAL37350;AAL37351;AAL37352;AAN02512;AAP03430;AAP97075;AAQ04662;AAQ04663;AAR20996;AAR24575;AAR97889;AAR98522;AAS00500;AAS16482;AAT01605;AAT90439;AAU93390;AAW31606;AAW31607;AAX39008;AAX39009;AAY98421;AAY98422;AAY98423;AAZ28944;AAZ32763;AAZ32764;AAZ67147;ABC41115;ABC41116;ABC41117;ABC41118;ABC59309;ABC59310;ABD66591;ABY67384;ACN23166;ACP27632;ACP27633;ADP08988;ADP08989;ADP08990;ADP08991;ADP08992;ADP08993;ADP08994;ADP08995;ADP08996;ADP08997;ADP08998;ADP08999;AER42120;AFS31344;AFS31345;AFS31346;AFS31347;AFV30234;AFV30235;BAA11584;BAA11585;BAA11586;BAA11587;BAA11588;BAA11589;BAA11590;BAA11591;BAA11592;BAA11593;BAA11594;BAB32654;BAB32655;BAB32656;BAB32657;BAB32658;BAB32659;BAD20714;BAD20715;BAD20716;BAD20717;BAD20718;BAD20719;BAD20720;BAD20721;BAD20722;BAD20723;BAD20724;BAD20725;BAD20726;BAD20727;BAG63563;CAA59233;CAB81776;CAB81777;CAB81778;CAB81779;CAD19818;CAD19819;CAD22451;CAD60209;CAD60210;CAD60211;CAD60212;CAD60213;CAD60214;CAD60215;CAD60216;CAD60217;CAD60218;CAD60219;CAD60221;CAD60222;CAD60223;CAD60224;CAD60225;CAD60226;CAD60235;CAD60237;CAD60239;CAD60240;CAI79116;CAJ00555;CAJ13827;CAJ77763;CAM28424;CAM34526;CBX20982;CBX20983;EAW88054;NP_065202;P16442 Hs.654423 1741857;1744687;1745665;1793896;1793898;1793900;1793902 GDB:186120;GDB:551069;GDB:631751;PMC305365P1;PMC305365P2;PMC305365P3;PMC305365P4 A3GALNT;A3GALT1;GTB;NAGAT ABO A3 transferase;ABO glycosyltransferase;ABO weak transfer;B(A) alpha-1,3-galactosyltransferase;fucosylglycoprotein 3-alpha-galactosyltransferase;fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase;glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase;glycoprotein-fucosylgalactoside alpha-galactosyltransferase;histo-blood group A transferase;histo-blood group A2 transferase;histo-blood group ABO system transferase;histo-blood group B transferase APPROVED protein-coding 79 05821 110300 REVIEWED 1603582 ABRA actin-binding Rho activating protein 8 8 8 q23.1 103958692 103969453 - 107842321 107851649 - 107771711 107782472 - 6480464 21486805;11256614;19255118;17415416;16381901;15798203;15489336;15489334;14702039;12477932;11983702;11230166;11076863;17194709;23259602 137735 Q8N0Z2 ABBA01037690;AC023344;AF503617;AK092694;AL832152;AL833422;AMYH01018952;BC105103;BC105105;CH471060;NM_139166 AAI05104;AAI05106;AAM27268;BAC03948;CAL37941;EAW91907;NP_631905;Q8N0Z2 Hs.374668 STARS OTTHUMP00000227583;actin-binding Rho-activating protein;striated muscle activator of Rho-dependent signaling protein-coding ENSG00000174429 30655 11608 609747 VALIDATED 1351168 ABRACL ABRA C-terminal like 6 6 6 q24.1 140089868 140104496 + 139391512 139406132 + 139349819 139364439 + 6480464 15489334;12665801;12477932;11042152;15723814;21082705;21139048;20940261 58527 Q5SZC9;Q9P1F3 ABBA01025801;ABBA01025802;AF116682;AF161398;AL590308;AMYH01016706;BC014953;BG563686;CH471051;NM_021243 AAF28958;AAF71102;AAH14953;EAW47902;NP_067066;Q9P1F3 Hs.600861 C6orf115;Costars;HSPC280;PRO2013;RP11-501K14.2 ABRA C-terminal-like protein;OTTHUMP00000017303;costars family protein ABRACL;costars family protein C6orf115;hypothetical protein LOC58527 APPROVED protein-coding ENSG00000146386 21230 VALIDATED 1314808 ABR active BCR-related This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012] 17 17 p13.3 853509 1029881 - 906758 1090616 - 1580863;6480464 8262969;17474147;15525470;14702039;12621583;11921339;8889548;8349582;7829075;7479768;2587217;22889411;16712791;11756498;12376548;12477932;12787561;20379614;16341674;21832049;22990118;16344560 29 B7Z2X0;B7Z683;B7Z7Z1;I3L0R7;I3L1U8;I3L259;I3L2C0;I3L2L3;I3L2P5;I3L379;I3L3W0;I3L434;I3L4Y1;I3NI05;Q13694;Q6ZT60 ABBA01054630;ABBA01054631;ABBA01054632;ABBA01054633;ABBA01054634;ABBA01054635;ABBA01054636;ABBA01054637;ABBA01054638;ABBA01054639;AC015884;AC016292;AI763107;AK094544;AK124547;AK126882;AK127851;AK295191;AK299909;AK300336;AK302682;AK307827;AL135250;AMYH01007983;AMYH01007984;AMYH01007985;AMYH01007986;AMYH01007987;AMYH01007988;BC036807;BC141909;BM827672;CB153196;CF135918;CH471108;DA106008;DA327723;DC308495;DC325032;DR003682;L19704;L19705;NG_011987;NM_001092;NM_001159746;NM_001256847;NM_021962;NR_046393;U01147 AAC37518;AAC37519;AAC50063;AAI56484;AAI72517;BAC86734;BAG54051;BAH12006;BAH13169;BAH13263;BAH13777;EAW90631;EAW90632;EAW90633;EAW90634;EAW90635;NP_001083;NP_001153218;NP_001243776;NP_068781;Q12979 Hs.159306 1336110;1339353;1339519;1689388;1710988;1734490;1744497;1758277;1758645;1783542;2128331;2145023;2169976 D17S1444E;D17S1529;D17S1840;D17S596;G11811;GDB:461131;RH46166;RH66671;SHGC-147890;SHGC-149018;SHGC-153854;SHGC-84866;WI-19743 FLJ45954;MDB OTTHUMP00000115362;active breakpoint cluster region-related protein APPROVED protein-coding ENSG00000159842 81 02649 600365 REVIEWED 1321888 ABT1 activator of basal transcription 1 Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA. [provided by RefSeq, Jul 2008] 6 6 6 p22.2 27826511 27829609 + 26705159 26708257 + 26597171 26600278 + 1580863;6480464 15489334;14574404;12477932;11790298;10648625;15635413;21145461;18482256;19299493;23080069;21139048;21890473 29777 Q9ULW3 AB027258;ABBA01066559;AL513548;AMYH01016163;BC048812;BC066313;CH471087;CS300635;NM_013375 AAH48812;AAH66313;ABZ92324;BAA86886;CAK32299;EAW55591;EAW55592;EAW55593;NP_037507;Q9ULW3 Hs.254406 1668488;1679579;1686608;2109021;2128323 ABT1_3579;RH80034;RH91583;SHGC-52907;SHGC-64311 hABT1 OTTHUMP00000017935;TATA-binding protein-binding protein;activator of basal transcription 1;basal transcriptional activator APPROVED protein-coding ENSG00000146109 17369 16469 REVIEWED 733617 ABTB2 ankyrin repeat and BTB (POZ) domain containing 2 11 11 11 p13 34320078 34526769 - 34129111 34335378 - 34172534 34379555 - 1580863;6480464 18429817;15489334;14702039;12477932;18459963;21145461;20379614;21906983 25841 Q8N961 ABBA01060867;ABBA01060868;ABBA01060869;ABBA01060870;ABBA01060871;ABBA01060872;ABBA01060873;ABBA01060874;AC090469;AK056863;AK091560;AK095632;AK291744;AL035079;AL050374;AL133294;AL139174;AMYH01003486;AMYH01003487;AMYH01003488;BC093968;BX640841;CH471064;NM_145804 AAH93968;BAC03697;BAC04595;BAF84433;BAG51818;CAE45913;EAW68172;EAW68173;NP_665803;Q8N961 Hs.23361 1683421;1690678;1713739;1737737;2122742;2218718;7184001 ABTB2__4237;D11S3333;D11S4537;RH120755;RH92826;RH93895 BTBD22;DKFZp586C1619 OTTHUMP00000232337;ankyrin repeat and BTB/POZ domain-containing protein 2 protein-coding ENSG00000166016 23842 10624 VALIDATED 1349137 ABTB1 ankyrin repeat and BTB (POZ) domain containing 1 This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010] 3 3 3 q21 125818638 125826632 + 128874471 128882453 + 127391781 127399769 + 1580863;6480464 18459963;18429817;15498874;15489334;15231748;14702039;12477932;11494141;10891360;21145461;8889548;18029348;19930467 80325 F2Z3F5;H7C4W8;Q969K4 AB053324;AB053325;AB053326;ABBA01020884;AC023593;AF297986;AF447886;AI337369;AK090422;AK090509;AK098738;AK130594;AK315148;AMYH01013457;BC011858;BF664138;BM671027;CH471052;NG_029479;NM_032548;NM_172027;NR_033429 AAH11858;AAK57478;AAQ04661;BAB55648;BAB55649;BAB55650;BAC03403;BAC85392;BAG37596;EAW79333;EAW79334;EAW79335;EAW79336;NP_115937;NP_742024;Q969K4 Hs.107812 1734266;1740263;2126622;2160014 D3S1645;D3S2755E;SHGC-77302;WI-13950 BPOZ;BTBD21;Btb3;EF1ABP;MGC20585;PP2259 OTTHUMP00000216041;OTTHUMP00000216042;OTTHUMP00000216044;ankyrin repeat and BTB/POZ domain-containing protein 1;elongation factor 1A binding protein;elongation factor 1A-binding protein APPROVED protein-coding ENSG00000114626 18275 10513 608308 REVIEWED 69012 ACAA1 acetyl-CoA acyltransferase 1 This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 3 3 p22.2 38139211 38153619 - 38164201 38178733 - 1300048;1580863;2313044;6480464;6907045 17632588 18281296;1679347;18029348;16385653;15489334;14621081;12477932;11418601;10960480;10231028;9110174;8619474;7750978;3194209;2882519;2726492;2630187;16756494;19423540;20406964;20438785;19913121;20628086;20877624;21048031;22939629;1347505;2318981;2365812;9427644;21890473;22151743;9053548 30 B4DVF4;B4E072;C9JDE9;F2Z2Q6;F2Z3P7;H0Y4D4;H7C131;P09110 ABBA01024827;AF035295;AK025138;AK127051;AK293716;AK301056;AK303251;AK316551;AMYH01013089;AP006309;BC000635;BC011977;BC014474;BC025780;BC039837;CH471055;DC312566;DC379687;NG_023225;NM_001130410;NM_001607;NR_024024;X12966;X14813;X51460;X65140;X65148 AAB88181;AAH00635;AAH11977;AAH14474;ABM82224;ABM84272;ABM85408;BAG57147;BAG62666;BAG64334;BAG65629;CAA31412;CAA32918;CAA35825;CAA46270;CAA46271;EAW64513;EAW64514;EAW64515;EAW64516;EAW64517;EAW64518;NP_001123882;NP_001598;P09110 Hs.643487 1712280;1741417;1768515;2106943;2136642;2141163;2185730;2186027;5020948;5109281 ACAA1_2845.2;D1S1425;D3S3102;D3S3932;D3S4185;G35510;G54049;GDB:181192;STS-X14813;WI-19140 ACAA;PTHIO;THIO 3-ketoacyl-CoA thiolase, peroxisomal;OTTHUMP00000209029;OTTHUMP00000209180;OTTHUMP00000209182;OTTHUMP00000209821;OTTHUMP00000209822;acetyl-Coenzyme A acyltransferase 1;beta-ketothiolase;peroxisomal 3-oxoacyl-CoA thiolase;peroxisomal 3-oxoacyl-Coenzyme A thiolase APPROVED protein-coding ENSG00000060971 82 06815 604054 REVIEWED 731908 ACACB acetyl-CoA carboxylase beta Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008] 12 12 q24.11 108061585 108190414 + 109577202 109706031 + 1304207;1580863;1300333;1625727;1300239;1300048;6480464;6907045 8670171;734875;16485039;704405 19190759;19034549;18996102;18455495;18031993;17521700;17223360;16854592;15590647;14627750;12477932;12413941;12086953;10677481;9284908;9099716;8876158;16054041;18029348;15060529;19390150;14532170;14613924;16794074;19618481;19846279;19900410;20168990;20379614;20468064;20519229;9148944;11257506;20139635;20514549;20599696;20602615;20799892;20855566;20877624;20965718;23156397;21887335;20085763;21953464;21908218;21139048;21906983;21553357;19322201;22318606;18976975;19720090;21344388 32 E9PEW7;F5H3T2;F5H5C3;F5H8F2;F6QQI9;F8W8T8;H0YGH5;O00763 AB209110;ABBA01005065;ABBA01005066;AC007637;AJ575431;AJ575592;AK302469;AK302502;AK307466;AMYH01004735;AY382667;BC009753;BC028417;CB269093;CB269579;CH471054;DB567934;DQ493870;NM_001093;R99037;U34591;U89344 AAB58382;AAC50571;AAH28417;AAI72264;AAI72569;AAR37018;ABF48723;BAD92347;BAG63759;BAG63782;CAE01470;CAE01471;EAW97852;EAW97853;EAW97854;EAW97855;NP_001084;O00763 Hs.234898 1667981;1684780;1769350;2114370;2156752 D12S1204E;D12S1876;RH92633;SGC32926;STS-N32504 ACC2;ACCB;HACC275 ACC-beta;OTTHUMP00000240532;acetyl-CoA carboxylase 2;acetyl-Coenzyme A carboxylase beta 1643258;1643266;1643270;1643277;2289628;2289630;2289632 BW198_H;BW201_H;BW203_H;BW205_H;BW500_H;BW501_H;BW502_H APPROVED protein-coding ENSG00000076555 85 07044 601557 REVIEWED 733990 ACAA2 acetyl-CoA acyltransferase 2 The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008] 18 18 18 q21.1 44166539 44196918 - 45563873 45593900 - 47309874 47340251 - 1580863;2317624;6480464;6907045 11879205 8241273;18371312;18193044;15489334;15242332;14702039;12477932;10856712;8125298;20571754;20679960;20877624;20972250;22863883;21832049;22939629;21139048 10449 B3KNP8;K7EJ68;K7EJB1;K7EME0;K7ER88;P42765 ABBA01018664;ABBA01018665;AC090227;AK054673;AK093311;AK225457;AK314462;AMYH01008992;AMYH01008993;BC001918;CH471096;D16294;NM_006111 AAH01918;ABM84302;ABM87696;BAA03800;BAG37070;BAG51410;EAW62950;EAW62951;EAW62952;EAW62953;EAW62954;EAW62955;EAW62956;NP_006102;P42765 Hs.200136 1679928;1754075;1775030;2131314;2136939;2147243;2154532;5017639 ACAA2;D18S1356;G35281;RH39218;SGC30718;SHGC-12898;SHGC-132113;SHGC-57883 DSAEC;FLJ35992;FLJ95265 3-ketoacyl-CoA thiolase, mitochondrial;OTTHUMP00000163502;T1;acetyl-Coenzyme A acyltransferase 2;beta ketothiolase;beta-ketothiolase;mitochondrial 3-oxoacyl-CoA thiolase;mitochondrial 3-oxoacyl-Coenzyme A thiolase APPROVED protein-coding ENSG00000167315 83 10380 604770 REVIEWED 736015 ACACA acetyl-CoA carboxylase alpha Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q21 32516040 32841015 - 35441927 35766902 - 1580863;1300332;1625727;1300238;1300048;2317316;2317309;6480464;6907045;7240710 734871;16485039;704404;11735100;17882277 20431927;7905825;16326698;19061860;18996102;18660489;18614968;18614941;18487259;18455495;18452305;18056116;18031993;17631500;17521700;17372234;17081983;16713569;16698035;15607423;15333468;15302935;14643797;12810950;12477932;12360400;11052978;10737800;10677481;7915280;7907095;20562859;7732023;2906852;2900140;2900138;16169070;18678647;8944226;16794074;19343720;19543203;19710915;19723093;19846279;20379614;20139635;21471234;20457939;19913121;20602615;20628086;20877624;20965718;19842072;22863883;23455922;23535730;18303054;23181366;23383273;21638027;16806233;22939629;21726077;22238651;17620599;22318606;22586326;19738201;21642987;23000302;21139048;21890473;21906983;19380743;19720090;21344388;22505724 31 A8MYL5;B2ZZ90;D3YTK0;K4DID9;K7EII5;K7EJ22;K7EK64;K7EMF7;K7EPF1;Q59FY4;Q7Z5W8;Q86WB2 AB209325;AB371587;ABBA01001371;ABBA01001372;ABBA01001373;ABBA01001374;ABBA01001375;ABBA01001376;ABBA01001377;ABBA01012436;ABBA01012437;ABBA01012438;ABBA01012439;ABBA01012440;ABBA01012441;ABBA01012442;AC003103;AC016482;AC068400;AJ534888;AJ534889;AJ564444;AK129523;AK295586;AK295735;AK295805;AK296368;AK301579;AK308905;AK309084;AK309424;AK311329;AMYH01008361;AY237919;AY315616;AY315617;AY315618;AY315619;AY315620;AY315621;AY315622;AY315623;AY315624;AY315625;AY315626;AY315627;BC031485;BC041598;BC137287;BF154865;CF454424;CH471199;NG_023295;NM_198834;NM_198836;NM_198837;NM_198838;NM_198839;U19822 AAC50139;AAH31485;AAI37288;AAP69841;AAP94113;AAP94114;AAP94115;AAP94116;AAP94117;AAP94118;AAP94119;AAP94120;AAP94121;AAP94122;BAD92562;BAG48316;BAG58478;BAG58574;BAG58623;BAG59043;BAG63071;CAD59556;CAD59557;CAD92089;EAW57576;EAW57577;EAW57578;EAW57579;EAW57580;EAW57581;EAW57582;EAW57583;NP_942131;NP_942133;NP_942134;NP_942135;NP_942136;Q13085 Hs.160556 1656653;1668802;1672259;1680385;1705774;1722145;1728739;1731417;1733378;1736696;1751813;1752911;1771596;1772194;1858503;2107809;2111366;2119838;2135250;2160287;2162425;2162427;5093206 A001W36;A009J24;ACACA_8187;Cda0ce05;D17S107;D17S1255;D17S1354E;D17S1515E;D17S2161;D19S1171;G09844;G19724;G32583;G54157;G60122;RH17508;RH98496;SHGC-105835;SHGC-106779;SHGC-31900;SHGC-78675;WI-11525;WI-14928 ACAC;ACACAD;ACC;ACC1;ACCA ACC-alpha;OTTHUMP00000164069;OTTHUMP00000164070;OTTHUMP00000164076;acetyl-CoA carboxylase 1;acetyl-CoA carboxylase-alpha;acetyl-Coenzyme A carboxylase alpha APPROVED protein-coding ENSG00000132142 84 01938 200350;613933 REVIEWED 1346668 ACAD10 acyl-CoA dehydrogenase family, member 10 This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase domain at the N-terminal portion, a serine/threonine protein kinase catlytic domain in the central region, and a conserved ACAD domain at the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Nov 2008] 12 12 12 q24.12 111749322 111820374 + 110608285 110679284 + 112123857 112194911 + 6480464 18950845;16344560;15560374;15197164;14702039;12477932;20379614;20390405;20877624;21642993;21237683;21832049;21906983;22423221;23364394 80724 D6RFF6;F8VW35;F8VWG8;F8VXK4;F8VZG7;F8W0Q4;F8W179;F8W1A9;F8W1I9;Q6JQN1 ABBA01019902;ABBA01019903;ABBA01019904;ABBA01019905;ABBA01019906;AC002996;AK092356;AK097425;AK310923;AL832043;AMYH01004752;AY323912;BC003698;BC015056;BC054886;BC126358;CA419108;CF272632;CH471054;DA146693;NM_001136538;NM_025247 AAH15056;AAI26359;AAQ88260;BAC03869;BAC05046;EAW97961;EAW97962;EAW97963;EAW97964;EAW97965;EAW97966;EAW97967;EAW97968;EAW97969;EAW97970;EAW97971;NP_001130010;NP_079523;Q6JQN1 Hs.331141 1670033;1671683;2146077 A004F15;STS-H17854;WI-14804 MGC5601 ACAD-10;OTTHUMP00000221787;OTTHUMP00000221788;OTTHUMP00000241651;acyl-CoA dehydrogenase family member 10;acyl-Coenzyme A dehydrogenase family, member 10 APPROVED protein-coding ENSG00000111271 21597 10625 611181 REVIEWED 1604580 ACAD11 acyl-CoA dehydrogenase family, member 11 3 3 3 q22.1 130703259 130804468 - 133759672 133861665 - 132276982 132378975 - 6480464 14561759;16344560;15489334;14702039;12477932;12056414;19423540;20237496;20406964;20438785;20877624;21237683;21832049;21903422 84129 D6RDI8;F8WEV0;H0Y9C6;Q08AE9;Q709F0 ABBA01059180;ABBA01059181;ABBA01059182;ABBA01059183;ABBA01059184;ABBA01059185;AC020632;AI091999;AJ608287;AK022654;AK131265;AK298627;AK308380;AL832873;AL833721;AMYH01013502;AX803783;AX803785;BC019607;BC125204;BC125205;CH471052;DA804241;HH961824;NM_032169 AAH19607;AAI25205;AAI25206;BAB14158;BAD18443;BAG60803;CAE55233;CAE75545;CAE75546;CAH56228;CAH56354;CBX51385;EAW79193;EAW79194;EAW79195;NP_115545;Q709F0 Hs.170737;Hs.441378 1751113;1797360;2180746 CCRL1_2475;SHGC-105034;SHGC-77360 ACAD-11;FLJ12592;MGC150619 62113 protein;ACAD-11;OTTHUMP00000216473;acyl-CoA dehydrogenase family member 11;acyl-Coenzyme A dehydrogenase family, member 11;putative acyl-CoA dehydrogenase APPROVED protein-coding ENSG00000240303 30211 13352 614288 VALIDATED 733759 ACADL acyl-CoA dehydrogenase, long chain The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008] 2 2 q34 210760959 210798392 - 211052714 211090215 - 1304195;1580863;704409;1300048;2317678;2317589;6480464 1774065;11125071;3968063;14728676 1945557;18660489;12477932;10832093;9714723;9003458;8739959;4022672;2000272;1607358;1559716;1438359;18029348;20037589;19913121;20628086;20363655;20877624;23106098;17500595;22118674;23281178 33 P28330 ABBA01062734;AC006994;AK296161;AK313498;AMYH01011462;BC039063;BC064549;CH471063;DC350098;M74096;NG_008002;NM_001608 AAA51565;AAH39063;AAH64549;AAY14881;ABM81711;ABM84867;BAG36280;BAG58900;EAW70481;NP_001599;P28330 Hs.471277 1662038;1665787;1677044;1693682;1711438;1795282;2183360 ACADL;ACADL_199;D2S1847;RH69173;RH80284;SHGC-36221;SHGC-58606 ACAD4;FLJ94052;LCAD OTTHUMP00000163937;acetyl-coenzyme a dehydrogenase, long-chain;acyl-Coenzyme A dehydrogenase, long chain;long-chain specific acyl-CoA dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000115361 88 01939 609576 REVIEWED 1344764 ACAD8 acyl-CoA dehydrogenase family, member 8 This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009] 11 11 11 q25 131296297 131308612 + 133628644 133640959 + 134123434 134135749 + 1580863;6480464;6907045;7240710 10524212;15489334;14752098;14702039;12477932;12359132;11013134;10235267;17387528;16806233;20877624;23080069;20360068;23251661 27034 B7Z5W4;B7Z7F1;E9PKP9;E9PLS3;H0YDR9;Q6ZWP6;Q9UKU7 AB209538;ABBA01031114;AF126245;AF260689;AK000359;AK026243;AK074640;AK125373;AK299492;AK299795;AK301921;AK303569;AK309051;AK309838;AMYH01004146;AP000859;BC001964;BI549961;CH471065;NG_015842;NM_014384 AAF12736;AAF97922;AAH01964;ABM82019;ABM85201;BAA91109;BAC11107;BAC86149;BAD92775;BAH13050;BAH13130;BAH13587;BAH13987;EAW67833;EAW67834;EAW67835;NP_055199;Q9UKU7 Hs.14791 1671077;2181534;2183571;5016236 RH11494;SGC32153;SGC32443;STS-N26556 ACAD-8;ARC42;FLJ22590 OTTHUMP00000235422;OTTHUMP00000235425;activator-recruited cofactor 42 kDa component;acyl-Coenzyme A dehydrogenase family, member 8;isobutyryl-CoA dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000151498 87 11985 604773;611283 REVIEWED 1348095 ACAD9 acyl-CoA dehydrogenase family, member 9 This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010] 3 3 q21.3 130081144 130114647 + 128598333 128631957 + 1580863;2317589;6480464;7240710 14728676 17672918;18385088;17564966;16750164;16344560;16020546;15489334;14702039;12971426;12477932;12359260;22939629;20929961;20877624;21057504;11256614;19615732;20816094;20186120;19805454;21139048;22277967;23064961 28976 D6R9Z3;D6RCD8;D6RDK9;D6RGK6;D6RJA8;H0Y8Z9;Q9H845 AB209427;ABBA01020915;ABBA01020916;ABBA01020917;AC112484;AF078854;AF327351;AK022568;AK024012;AK027186;AK130311;AK294597;AK297952;AK310644;AMYH01013468;BC001817;BC007970;BC013354;BC041572;CH471052;DA630022;NG_017064;NM_014049;NR_033426 AAD44486;AAH01817;AAH07970;AAH13354;AAL56011;ABM84442;ABM87494;BAB14104;BAB14775;BAD92664;BAG57785;BAG60267;EAW79293;EAW79294;EAW79295;EAW79296;NP_054768;Q9H845 Hs.567482 1733830;1749437;1797258;2152943;5015961;5022322;5037552;7184418 ACAD9_1898;D11S2560;D15S1477;D3S1498;D8S2279;SHGC-111168;STS-AA024661 ACAD-9;FLJ23533;MGC14452;NPD002 OTTHUMP00000217095;OTTHUMP00000217099;acyl-CoA dehydrogenase family member 9, mitochondrial;acyl-Coenzyme A dehydrogenase family, member 9;very-long-chain acyl-CoA dehydrogenase VLCAD APPROVED protein-coding ENSG00000177646 21497 12412 611103;611126 REVIEWED 732202 ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain This gene encodes a a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with Short Chain Acyl-CoA Dehydrogenase Deficiency. [provided by RefSeq, Jul 2008] 12 12 q24.31 119648050 119662193 + 121163571 121177811 + 1580863;1300335;1300239;1300048;2317678;2317589;6480464;6907045;7240710 734878;704405;3968063;14728676 20843780;8276399;16729965;18977676;18539996;18523805;18184946;18175080;18054510;18045290;16376132;15902559;15489334;12706374;12477932;12220177;11134486;9499414;9383286;8889548;8503850;2565344;1692038;1286669;19470168;20037589;20180986;20376488;20371198;19913121;20554694;20628086;20877624;21211036;21968293;22004070;21938826;21886157;21988832 35 E5KSD5;E9PE82;P16219 AB527081;ABBA01020134;ABBA01020135;AC069234;AK300645;AMYH01004804;BC025963;BU682624;CH471054;DB487184;HQ205946;HQ205947;HQ205948;HQ205949;HQ205950;HQ205951;HQ205952;HQ205953;HQ205954;HQ205955;HQ205956;HQ205957;HQ205959;HQ205960;HQ205961;HQ205962;HQ205963;HQ205964;HQ205965;HQ205966;HQ205967;HQ205968;HQ205970;HQ205971;HQ205972;HQ205973;HQ205974;HQ205975;HQ205976;HQ205977;HQ205978;HQ205979;HQ205980;HQ205981;HQ205983;HQ205984;M26393;NG_007991;NM_000017;U83992;Z80345;Z80347 AAA60307;AAD00552;AAH25963;ABM83110;ABM86304;ADP91814;ADP91815;ADP91816;ADP91817;ADP91818;ADP91819;ADP91820;ADP91821;ADP91822;ADP91823;ADP91824;ADP91825;ADP91827;ADP91828;ADP91829;ADP91830;ADP91831;ADP91832;ADP91833;ADP91834;ADP91835;ADP91836;ADP91838;ADP91839;ADP91840;ADP91841;ADP91842;ADP91843;ADP91844;ADP91845;ADP91846;ADP91847;ADP91848;ADP91849;ADP91851;ADP91852;BAG62333;BAJ05798;CAB02492;EAW98218;NP_000008;P16219 Hs.507076 1681442 RH75794 ACAD3;SCAD OTTHUMP00000240402;OTTHUMP00000240403;acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain;butyryl-CoA dehydrogenase;mitochondrial short-chain specific acyl-CoA dehydrogenase;short chain acyl-coenzyme a dehydrogenase;short-chain acyl-CoA dehydrogenase;short-chain specific acyl-CoA dehydrogenase, mitochondrial;unsaturated acyl-CoA reductase APPROVED protein-coding ENSG00000122971 90 06053 201470;606885 REVIEWED 735259 ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p31 75962870 76001771 + 76190043 76229355 + 1300334;1580863;704409;1300048;2317678;2317589;6480464;6484113;6907045;7240710 734877;11125071;3968063;14728676 2393404;1731887;19224950;19064330;18927092;18660489;18241067;18188679;17539907;17186412;16917729;16617240;16291504;16236267;16128823;15902558;15896661;15832312;15489334;15171999;14970748;14692513;12914524;12562916;12522104;12477932;11517203;11486912;11409868;11349232;11263545;10767181;9882619;9487154;9484241;9158144;8823176;8198141;7929823;7608198;7603790;6857268;3786030;3597357;3462713;3035565;2394825;2251268;1902818;1729890;1684086;1679031;1671131;1363805;21145461;11256614;16972171;18029348;19551636;19615732;19649258;1970566;20037589;19913121;20434380;20567907;20628086;20877624;21083904;20301597;23028790;21239873;22683754;22863883;15840729;21968293;21139048;21886157;22630369;23141465;22797925 34 B4DJE7;B7Z9I1;E9PIX8;E9PJM9;E9PLN7;E9PQA8;E9PRX4;H0YDT5;P11310;Q5T4U5 ABBA01074416;ABBA01074417;ABBA01074418;AF251043;AK296045;AK301005;AK301039;AK301717;AK309843;AK311022;AK311185;AK312629;AK315946;AL357314;AMYH01000713;BC005377;BI789086;BX647734;CH471059;DB453314;DB537134;M16827;M60505;M91432;NG_007045;NM_000016;NM_001127328;U33947 AAA51566;AAA59567;AAB59625;AAF63626;AAH05377;ABM83267;ABM86636;BAG35514;BAG58809;BAG62623;BAG62652;BAG63188;BAH14317;CAI45986;EAX06399;EAX06400;EAX06401;NP_000007;NP_001120800;P11310 Hs.445040 1673630;1743931;1745673;1745675;1745677;1745679;1754041;1792750;1792756;1797260;2141652;2163872;2189357;5491767 ACADM;ACADM__2214;D17S2133;D1S2386;GDB:375715;GDB:631816;GDB:631822;GDB:631826;GDB:631830;MARC_2710-2711:991933212:3;PMC162151P1;PMC162151P4;RH17668;SHGC-132084 ACAD1;FLJ18227;FLJ93013;FLJ99884;MCAD;MCADH OTTHUMP00000011345;OTTHUMP00000011346;OTTHUMP00000232508;acetyl-coenzyme a dehydrogenase, medium chain;acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain;medium-chain specific acyl-CoA dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000117054 89 08447 201450;607008 REVIEWED 6481025 ACAP2-IT1 ACAP2 intronic transcript 1 (non-protein coding) 100874306 AC090018 miscrna 41426 735407 ACADVL acyl-CoA dehydrogenase, very long chain The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 17 17 p13.1 7063877 7069309 + 7120444 7128586 + 704409;1580863;1300337;1300048;1300240;2317683;2317589;6480464;6484113;7240710 11125071;734536;704385;15850553;14728676 8466512;7479827;7668252;18063578;18660489;18156936;17999356;17514507;17457695;17374501;16464760;15489334;14702039;14611808;12609736;12477932;10790204;10077518;11158518;9973285;9709714;9599005;9546340;8921384;8845838;8554625;8554073;8125298;7769092;19327992;19889959;20060901;20099975;20301763;20952238;22939629;22093928;20186120;18781797;21890473;21906983;22093833;21932095;16344560;16212417;18337751;21988832;22304920;23169530 37 B3KPA6;G3V1M7;J3KS89;J3KSR4;J3QKU9;J3QRJ8;J9JID6;K7EJW8;K7EMF8;K7EQP4;P49748 AA643658;ABBA01054853;ABBA01054854;AC120057;AF244932;AJ012053;AK056083;AK056956;AK058109;AK097243;AK222518;AK293549;AK302653;AL536186;AMYH01008072;AMYH01008073;BC000399;BC012912;BC020218;BI822737;BP387474;CH471108;D43682;D78298;DA945553;L46590;NG_007975;NM_000018;NM_001033859;NM_001270447;NM_001270448;X86556 AAA79002;AAH00399;AAH12912;AAH20218;BAA07781;BAA29057;BAD96238;BAG51618;BAG51833;BAG57027;BAG63892;CAA60253;EAW90246;EAW90247;EAW90248;EAW90249;EAW90250;NP_000009;NP_001029031;NP_001257376;NP_001257377;P49748 Hs.437178 1648975;1736686;1778559;2216976 ACADVL_2963;D17S1508E;RH11576;SHGC-35547 ACAD6;LCACD;VLCAD OTTHUMP00000128351;acyl-Coenzyme A dehydrogenase, very long chain;very long-chain specific acyl-CoA dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000072778 92 01940 201475;609575 REVIEWED 1313339 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 17 17 17 p13.1 7265787 7280732 + 7180597 7195517 + 7239848 7254793 + 1580863;6480464;6907045 18685082;22645133;17474147;18003747;17664335;17010122;17005562;16777052;16189514;15525538;15489334;12477932;11062263;11050434;7584044;7566098;20379614;20800603;22188517;22505724 9744 I3L0K9;I3L268;I3L2Z4;I3L3X6;Q15027 AA356620;ABBA01054860;AC026954;AMYH01008078;BC018543;BT009788;CH471108;D30758;NM_014716 AAH18543;AAP88790;ABM82645;BAA06418;EAW90209;EAW90210;NP_055531;Q15027 Hs.337242 5023450 RH25286 CENTB1;KIAA0050 Arf GAP with coiled coil, ANK repeat and PH domains 1;OTTHUMP00000128386;arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1;centaurin, beta 1;centaurin-beta-1;cnt-b1 protein-coding ENSG00000072818 16467 08474 607763 VALIDATED 735869 ACADSB acyl-CoA dehydrogenase, short/branched chain Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008] 10 10 q26.13 124758419 124807796 + 124768429 124817806 + 1300336;704409;1580863;1300048;6480464;6907045;7240710 734879;11125071 7698750;17143180;16344560;16331964;16331963;16317551;15489334;12855692;12477932;11013134;10832746;7759115;16385451;19615732;20418485;20547083;17207965;20877624;21139048;21890473;22277967;22797925 36 B4DQ51;H0Y6T4;P45954 ABBA01062838;AC012391;AC073585;AF260678;AK298638;AK314241;AL731666;AL831821;AMYH01003144;AMYH01003145;BC013756;BC020931;BC032395;BC045723;BE875638;CH471066;DA964130;NG_008003;NM_001609;U12778 AAA74424;AAF97921;AAH13756;ADQ31765;BAG36909;BAG60813;CAD38535;EAW49291;NP_001600;P45954 Hs.81934 1652987;1736014;1795284;2114196;2127803;2147827;2159232;2162982;2183653;5109549;5122025 ACADSB_201;D10S1297E;D10S2417;D21S1698;RH44700;RH44778;RH68878;RH70481;SHGC-13269;SHGC-35255;WI-18655 2-MEBCAD;ACAD7;SBCAD 2-methyl branched chain acyl-CoA dehydrogenase;2-methylbutyryl-coenzyme A dehydrogenase;OTTHUMP00000020685;OTTHUMP00000240061;acyl-Coenzyme A dehydrogenase, short/branched chain;short/branched chain specific acyl-CoA dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000196177 91 02626 600301;610006 REVIEWED 1347120 ACAP2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 3 3 3 q29 193403894 193572181 - 196476768 196645041 - 194995465 195163817 - 1580863;6480464;6907045 18003747;16344560;15592455;15489334;12477932;11062263;11050434;11001876;8125298;7584044;18685082;23184937;22379092 23527 C9J8L1;F8WAU0;H7C1E0;H7C3K3;H7C3Q8;Q15057 ABBA01001610;ABBA01001611;AC090018;AC091633;AC126170;AJ238248;AK222635;AK290369;AMYH01013786;BC014843;BC017120;BC031005;BC047579;BC060767;CA413842;CH471052;D26069;DA774230;DB087306;NM_012287 AAH31005;AAH60767;BAA05064;BAF83058;CAB41450;EAW78026;EAW78027;NP_036419;Q15057 Hs.593373 1659313;1662382;1686426;1690824;1756055;2112552;2126778;2155167;2166787;2186802;5022651 D11S2921;D3S4421;RH12652;RH25278;RH68527;RH71442;RH76068;SHGC-142861;SHGC-59960;SHGC-77675;STS-R86950 CENTB2;CNT-B2;KIAA0041 Arf GAP with coiled coil, ANK repeat and PH domains 2;OTTHUMP00000208844;arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2;centaurin, beta 2;centaurin-beta-2 protein-coding ENSG00000114331 16469 09681 607766 VALIDATED 68507 ACAN aggrecan This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008] 15 15 q26.1 87147678 87219589 + 89346674 89418585 + 1300269;1580863;2315807;2315836;2315837;2315073;6480464;7240710 9192671;18511192;11764092;14769391;19955224 1326552;1569188;19333097;19298220;19294492;19266077;19180518;19110214;19034380;19004047;18391952;18055126;18040638;17632389;17588949;17568421;17261541;16741449;16650460;16574327;16537531;16425147;16402214;16344560;16335952;16080123;16001263;15590670;14724283;14722076;14627072;14558103;12888576;12477932;12054629;11932252;11898616;11854269;11038354;10922468;10400671;9756610;9688535;9654129;9013976;8921002;8611178;8314595;8216228;7998967;7827755;7626017;7574678;7524681;7240256;2789216;12205105;1985970;22297263;15505028;22670872;10751421;14701864;16188468;19545413;19657146;19669783;19790048;19893584;20137779;20367118;20379614;20496110;20505571;20367178;20618160;19913121;20546612;20628086;18829133;20936487;21039430;20640910;20806220;21277254;22241609;21117903;21655647;21689646;20881960;19220578;21224775;19953087;21948754;22015197;21998595;22441960;22820679;23209686;17308074;22329809 176 E7ENV9;E7EX88;H0YK70;H0YM81;H0YMF1;P16112;Q6PID9 ABBA01053001;ABBA01053002;AC103982;AK290723;AMYH01006911;BC036445;BC150624;BQ182050;BQ446640;CH471101;CS025622;DA596050;J05062;L29488;M55172;NG_012794;NM_001135;NM_013227;S74659;U13192;X17406;X80278 AAA35726;AAA62824;AAB48068;AAC60643;AAH36445;AAI50625;BAF83412;CAA35463;CAI61688;EAX02017;EAX02018;EAX02019;EAX02020;EAX02021;NP_001126;NP_037359;P16112 Hs.2159;Hs.616395 1335591;1339626;1724835;1761671;2136832;2140715 D15S1004;D19S876;RH119180;RH17913;SGC30467;SHGC-145650 AGC1;AGCAN;CSPG1;CSPGCP;MSK16;SEDK aggrecan 1;aggrecan core protein;cartilage-specific proteoglycan core protein;chondroitin sulfate proteoglycan core protein 1;large aggregating proteoglycan APPROVED protein-coding ENSG00000157766 319 01123 155760;165800;608361;612813 REVIEWED 737017 ACAT1 acetyl-CoA acetyltransferase 1 This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009] 11 11 q22.3 107497468 107523485 + 107992258 108018895 + 704409;1300338;1300048;1580863;1300240;2307223;2326222;1358268;2326093;1581042;2326081;6480464;6907045;7240710 11125071;734884;704385;19147991;7617578;15308631;15877199;15961705;19878707 1979337;3709573;17353931;1715688;19625677;19269342;19217763;19112833;18996102;18971559;18779653;18562306;18542101;18511318;18393248;18029348;18000807;17691824;17371050;17236799;16935016;16341674;15242332;15158756;15128923;12754704;12477932;9744475;9700610;9607396;9380443;8103405;7907600;7749408;7728148;7173255;4690360;1684944;1627655;1351831;1346617;21110914;20460577;20046049;20156697;20167577;20602615;19851860;20877624;20843517;22275303;20945045;22939629;22057399;21139048;21890473;21906983;19738201;21177161;21988832;22623428;21081666;21791085;22145905;22243772;22586326;20301313;21145461;22268729 38 E9PKF3;E9PRQ6;G3XAB4;H0YEL7;P24752 ABBA01039868;ABBA01039869;ABBA01039870;AF086561;AK312574;AMYH01004021;AP002433;AW081574;BC010942;BC063853;BM789408;CH471065;D10511;D90228;NG_009888;NM_000019;S70578 AAH10942;BAA01387;BAA14278;BAG35468;EAW67103;EAW67104;EAW67105;NP_000010;P24752 Hs.232375 1690918;1736160;1778692;2111318;2138269;2140028;2163311;5117438;5117440;5117442;7185620 ACAT1;D11S2051;D11S2241E;D11S384;D11S4336;GDB:555481;GDB:555487;GDB:555490;RH45817;STS-AA010069 ACAT;MAT;T2;THIL OTTHUMP00000232753;acetoacetyl Coenzyme A thiolase;acetoacetyl-CoA thiolase;acetyl-CoA acetyltransferase, mitochondrial;acetyl-Coenzyme A acetyltransferase 1;mitochondrial acetoacetyl-CoA thiolase APPROVED protein-coding ENSG00000075239 93 01946 203750;607809 REVIEWED 1321777 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 1 1 1 1337872 1353397 + 1218807 1228503 - 1227764 1243269 - 1580863;6480464;6907045 15489334;14702039;12477932;11214970;16169070;19548526;19913121;20628086;21900206 116983 F8W850;Q8WTZ1;Q96P50 AB051503;ABBA01016029;AF411981;AK093954;AK098490;AL139287;AL162741;AMYH01000124;AMYH01000125;BC004874;BC021851;BC029929;BC047001;BC051194;CH471183;NM_030649 AAH04874;AAH21851;AAH29929;AAH51194;AAL04165;BAB21807;BAC04257;EAW56246;EAW56247;EAW56248;EAW56249;EAW56250;NP_085152;Q96P50 Hs.535257 2183853 SHGC-74126 CENTB5;KIAA1716 OTTHUMP00000002285;arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3;centaurin, beta 5;centaurin-beta-5;cnt-b5 protein-coding ENSG00000131584 16754 10820 VALIDATED 1312817 ACBD6 acyl-CoA binding domain containing 6 1 1 1 q25.1 153364592 153578887 - 178523988 178738102 - 180257352 180472022 - 737633;1580863;6480464 12477932 18268358;16710414;15489334;8889549;20379614;20098747;18029348;21832049;19471022;21139048;21890473;21963094 84320 B2RAA8;Q9BR61 AA085012;ABBA01027794;ABBA01027795;ABBA01027796;AK314112;AL139141;AL358354;AL445469;AL537685;AL561590;AMYH01001537;AY606133;BC006505;BU170874;CH471067;NM_032360 AAH06505;BAG36805;EAW91082;EAW91083;EAW91084;NP_115736;Q9BR61 Hs.200051 1683038;1692972;1780128;1852776;2028464;2187693 AL034203;At-8BJ-008;REN85236;RH80540;SHGC-154434;SHGC-76002 MGC2404 OTTHUMP00000033086;acyl-CoA-binding domain-containing protein 6;acyl-Coenzyme A binding domain containing 6 APPROVED protein-coding ENSG00000135847 23339 12416 VALIDATED 1354229 ACAT2 acetyl-CoA acetyltransferase 2 The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation. [provided by RefSeq, Jul 2008] 6 6 q25.3 160102979 160120077 + 160182989 160200087 + 1298605;1581921;1556516;1601111;1601112;2316857;2326093;6480464;6907045;7240710 2475872;14557872;11100118;16675724;16195894;16876788;15877199 21044950;17353931;7911016;19282863;19071091;18996102;18660489;18269457;18000807;17950700;17919884;15733928;15489334;15342556;15158756;14702039;14574404;12621162;12477932;8812443;8125298;6150136;12518221;16331323;19467657;20167577;17207965;18029348;20877624;19913121;20602615;20628086;22939629;22863883;21139048;21890473;22155889;21987487;22053931 39 B7Z233;Q9BWD1 AB208993;ABBA01021060;ABBA01021061;ABBA01021062;AF356877;AK055001;AK225089;AK225244;AK291080;AK294273;AL135914;AMYH01016804;BC000408;BM997310;BP210609;CH471051;NG_023389;NM_005891;S70154 AAB30856;AAH00408;AAM00223;ADQ32668;BAD92230;BAF83769;BAH11719;EAW47619;EAW47620;NP_005882;Q9BWD1 Hs.571037 1690115;1776183;1857693;2150370;2168149;5111951 D6S1840;G05384;G43314;RH93477;SHGC-36020;SHGC-37084 OTTHUMP00000017527;acetoacetyl Coenzyme A thiolase;acetyl-CoA acetyltransferase, cytosolic;acetyl-CoA transferase-like protein;acetyl-Coenzyme A acetyltransferase 2;acetyl-coenzyme a acetyltransferase 2 (acetoacetyl coenzyme a thiolase);cytosolic acetoacetyl-CoA thiolase 2289445;2314977;2314981;2314987;2314988;2314994;2314995;2314996 BW415_H;BW515_H;GLUCO127_H;INSUL31_H;INSUL38_H;INSUL40_H;SLEP23_H;SLIPL24_H APPROVED protein-coding 94 00006 100678;614055 REVIEWED 1318153 ACBD4 acyl-CoA binding domain containing 4 This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 17 17 17 q21.31 39919127 39931193 + 40568580 40577324 + 43209967 43221543 + 6480464 16344560;15489334;15221005;14702039;12477932;19430483;17207965;21045733;21832049;22566634;20881960 79777 B4DJP3;K7EM05;K7EMH4;Q8NC06 AB073387;ABBA01028325;ABBA01028326;ABBA01028327;AC142472;AK023384;AK075104;AK296167;AK316359;AMYH01008438;AMYH01008439;BC022000;BC029164;BC041143;CH471178;DA039654;DB128538;DC393065;DC421936;NM_001135704;NM_001135705;NM_001135706;NM_001135707;NM_024722 AAH29164;AAH41143;ADQ33037;BAB14553;BAC11403;BAD38638;BAG58905;BAH14730;EAW51548;EAW51549;EAW51550;EAW51551;EAW51552;NP_001129176;NP_001129177;NP_001129178;NP_001129179;NP_078998;Q8NC06 Hs.110298 1686076;2131056;5022578 D1S1423;RH45681;RH98888 FLJ13322;FLJ90623;HMFT0700 acyl-CoA-binding domain-containing protein 4;acyl-Coenzyme A binding domain containing 4 APPROVED protein-coding ENSG00000181513 23337 REVIEWED 1319743 ACBD5 acyl-CoA binding domain containing 5 This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 10 10 10 p12.1 27200570 27247485 - 27524149 27571065 - 27484143 27531068 - 1580863;6480464 15342556;14702039;12477932;12056414;16385451;17207965;20626622;18029348;21890473;21906983;21963094;22190034 91452 B7Z2A7;B7Z2R7;Q5T8E0;Q8NCM9;Q9UFB5 AB082527;ABBA01034394;ABBA01034395;ABBA01034396;ABBA01034397;ABBA01034398;ABBA01034399;AF505653;AI453384;AK057469;AK294510;AK295031;AK304842;AL133064;AL160291;AMYH01002204;AMYH01002205;BC011364;BC025309;BC030555;BP200763;BX643349;CA776355;CH471072;DC333545;NG_032960;NM_001042473;NM_001271512;NM_145698;NR_024150;NR_073195;NR_073196;NR_073197 AAH30555;AAP30852;ADQ32840;BAC02705;BAG51918;BAH11793;BAH11953;BAH14266;CAB61388;EAW86059;EAW86060;EAW86061;EAW86062;EAW86063;NP_001035938;NP_001258441;NP_663736;Q5T8D3 Hs.530597 1342120;1720025;1731082;1731096;1731104;1782118;2123752;2133550;5022322;5092802 A006F35;D10S1733;D10S291;D10S298;D10S303;D11S2560;G32339;RH123807;SHGC-155089;STS-H57537 DKFZp434A2417;KIAA1996 OTTHUMP00000019362;OTTHUMP00000019363;OTTHUMP00000019364;OTTHUMP00000019365;acyl-CoA-binding domain-containing protein 5;acyl-Coenzyme A binding domain containing 5;endozepine-related protein;membrane-associated diazepam binding inhibitor APPROVED protein-coding ENSG00000107897 23338 12415 REVIEWED 1348505 ACBD3 acyl-CoA binding domain containing 3 The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008] 1 1 1 q42.12 199523027 199565088 - 224399003 224441046 - 226332380 226374423 - 1580863;6480464 21145461;17711851;18636124;16870622;16710414;15489334;15231748;14702039;12692076;12665801;12477932;11731621;11590181;22383495;12711385;18029348;22863883;22258260;19322201;21139048;21890473;21906983;22124328;22053931;22190034;22505724;22796112 64746 O43466;Q9H3P7 AB043587;ABBA01009645;ABBA01009646;ABBA01009647;ABBA01009648;AF020762;AK025520;AK057118;AK314468;AL592045;AMYH01001778;AY150218;BC034563;BC039575;BC045533;BC060792;CH471098;NG_028985;NM_022735 AAB97675;AAH34563;AAH45533;AAH60792;AAN60219;BAB15159;BAB20592;BAG37076;EAW69775;EAW69776;NP_073572;Q9H3P7 Hs.520207 1646784;1666214;1667595;1680010;1686518;1746005;1787856;1788608;1790217;2156909 AI234525;BCD1405;C76375;D1S3722;RH125959;RH69697;RH80265;RH80922;SHGC-132660;SHGC-37008 GCP60;GOCAP1;GOLPH1;PAP7 Golgi resident protein GCP60;OTTHUMP00000035668;PBR associated protein;PBR- and PKA-associated protein 7;PKA (RIalpha)-associated protein;acyl-CoA-binding domain-containing protein 3;acyl-Coenzyme A binding domain containing 3;golgi complex associated protein 1, 60kDa;golgi complex-associated protein 1;golgi phosphoprotein 1;peripheral benzodiazepine receptor-associated protein PAP7;peripherial benzodiazepine receptor associated protein APPROVED protein-coding ENSG00000182827 15453 08432 606809 REVIEWED 1350250 ACBD7 acyl-CoA binding domain containing 7 10 10 10 p13 15046107 15059408 - 15157480 15170781 - 15117474 15130775 - 6480464 15489334;15164054;14702039;12477932;23251661 414149 Q8N6N7 ABBA01034600;AK095538;AK295169;AL590365;AMYH01002055;BC029526;BX114172;CH471072;NM_001039844 AAH29526;ADZ15342;BAG53080;BAH11998;EAW86243;NP_001034933;Q8N6N7 Hs.644598;Hs.723069 5022578;5037552 D1S1423;D8S2279 FLJ38219;FLJ52263;MGC33893;bA455B2.2 OTTHUMP00000019197;acyl-CoA-binding domain-containing protein 7;acyl-Coenzyme A binding domain containing 7 APPROVED protein-coding 17715 VALIDATED 6895289 ACE3P angiotensin I converting enzyme (peptidyl-dipeptidase A) 3, pseudogene 17 q23.3 61584395 61597188 + 17597519 100129123 ABBA01035330;AC113554;AMYH01008548;NG_016186 ACE3 pseudo 44365 INFERRED 1606762 ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 11 11 11 p11 44234936 44252861 + 44044433 44062145 + 44087729 44105569 + 6480464 11470512;16344560;16189514;14702039;12477932;20453000 84680 B4E219;E9PRT9;E9PS61;Q96QU6 ABBA01060771;AC134775;AK057649;AK302515;AK304074;AK307380;AL833533;AMYH01003522;AY026508;BC020197;CH471064;DA196370;DA406116;DC390076;NM_001127219;NM_032592 AAH20197;AAK11482;BAB71541;BAG63791;BAG64981;EAW68072;EAW68073;NP_001120691;NP_115981;Q96QU6 Hs.126706 2189509 G73152 ACS;PHACS 1-aminocyclopropane-1-carboxylate synthase-like protein 1;ACC synthase-like protein 1;OTTHUMP00000232862 protein-coding ENSG00000110455 23989 10524 608405 VALIDATED 2302255 ACCSL 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 11 11 11 p11.2 44216736 44228734 + 44026107 44038103 + 44069531 44081527 + 12477932 390110 E9PI59;Q3C1W0;Q4AC99 AB231732;AB231733;AB231734;ABBA01060771;AC134775;AMYH01003522;BC144554;CH471064;DW009984;NM_001031854 BAE17132;BAE46887;EAW68074;NP_001027025;Q4AC99 Hs.558851 1695414 SHGC-68777 1-aminocyclopropane-1-carboxylate synthase-like protein 2;ACC synthase-like protein 2;OTTHUMP00000232861;probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2 protein-coding ENSG00000205126 34391 VALIDATED 1353412 ACHAP acetylcholinesterase-associated protein 42 107 1344470 ACER1 alkaline ceramidase 1 Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010] 19 19 19 p13.3 6245303 6272430 - 6257725 6284562 - 6306510 6333640 - 1580863;6480464;6907045 17713573;17562024;16477081;15489334;12783875;12477932;11915342 125981 Q8TDN7 ABBA01055969;ABBA01055970;ABBA01055971;ABBA01055972;ABBA01055973;ABBA01055974;AC011491;AC114268;AF347024;AMYH01009372;BC112122;BC112124;CH471139;CU449837;NM_133492 AAI12123;AAI12125;AAL83822;EAW69104;EAW69105;NP_597999;Q8TDN7 Hs.352609 ALKCDase1;ASAH3;MGC138327;MGC138329 N-acylsphingosine amidohydrolase (alkaline ceramidase) 3;N-acylsphingosine amidohydrolase 3;acylsphingosine deacylase 3;alkCDase 1;alkaline CDase 1;alkaline ceramidase 1 APPROVED protein-coding 18356 12496 613491 VALIDATED 1347174 ACE2 angiotensin I converting enzyme 2 The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. The organ- and cell-specific expression of this gene suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronaviruses SARS and HCoV-NL63. [provided by RefSeq, Jul 2008] X X p22 15489077 15529058 - 15579156 15620192 - 1581742;1581931;1576349;1580863;1558664;1642828;2313796;2313798;2313800;2313797;2313799;2325210;4140485;4140483;6480464;6907045 15638741;16520407;15486224;15671045;16459167;19077419;18753062;18235039;19034303;18679036;19212105;20465954;20581171 18343844;22048948;10969042;10924499;18258853;15165741;15380922;17703127;18279660;19411314;19297479;19289653;19286757;19286756;19164480;19164471;19141296;19136547;19077694;19067252;19051693;19021774;19020433;18931070;18926157;18814896;18660448;18560893;18554741;18502721;18496132;18490652;18448527;18441099;18389211;18310257;18223028;18223027;18223023;18208662;18164957;18029348;18022600;17906677;17897017;17504232;17473847;17303661;17079315;17037581;17037544;17037543;17037534;16962475;16912312;16866021;16690935;16574921;16510163;16338465;16315782;16283142;16215952;16211375;16166518;16166094;16088128;16055515;16006956;16001071;15983030;15979045;15937940;15897467;15791205;15769906;15640278;15489334;15452268;15361769;15283675;15276642;15233982;15231706;15151696;15141377;15084671;14754895;14670965;14647384;12975309;12967627;12477932;12459472;12075344;12025971;11815627;20660625;20484496;21115782;20349406;20831027;20541774;20674894;21068237;20854388;21052031;20798044;19913121;20142028;20592051;20628086;20679547;20813695;16647014;19461648;19684612;19700132;19716087;19864379;19901337;19924243;19926873;19934006;20117248;20117991;20134095;20160196;20204277;20224560;21189404;20692300;21072744;20703229;20559404;21411533;21316680;21346373;22629438;20060185;23091417;21457402;21864606;21880865;22291007;21963832;18070603;21265092;22025374;21946695;22033511;21490025;21814048;23230080;21952934;22297693;22523556;21993363;22179088;22718567;22475818;21670585;22749485;22647782;22750422;23144053 59272 Q9BYF1 AB046569;AB193259;AB193260;ABBA01071320;ABBA01071321;ABBA01071322;ABBA01071323;ABBA01071324;ABBA01071325;AC097625;AF241254;AF291820;AF366352;AK026461;AK315144;AL110224;AMYH01022107;AY217547;AY358714;AY623811;BC032938;BC039902;BC048094;BC048144;BC059378;CH471074;GQ262784;NG_012575;NM_021804 AAF78220;AAF99721;AAH39902;AAH48094;AAO25651;AAQ89076;AAT45083;ACT66268;BAB40370;BAD99266;BAD99267;BAG37592;CAB53682;EAW98891;EAW98892;NP_068576;Q9BYF1 Hs.178098 1685610;1756197;1797262;2133063 ACE2_1659;DXS7698;RH92830;SHGC-143063 ACEH;DKFZp434A014 ACE-related carboxypeptidase;OTTHUMP00000022963;angiotensin I converting enzyme (peptidyl-dipeptidase A) 2;angiotensin I converting enzyme 2;angiotensin-converting enzyme 2;angiotensin-converting enzyme homolog;metalloprotease MPROT15;peptidyl-dipeptidase A APPROVED protein-coding ENSG00000130234 13557 02274 300335 REVIEWED 1351362 ACD adrenocortical dysplasia homolog (mouse) This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008] 16 16 q22.1 66248916 66252219 - 67691415 67694718 - 1580863;6480464 21145461;22863003;17237767;15181449;15380063;17237768;16880378;16166375;19424630;18185984;17632522;17466001;17373762;16749892;16713569;16504561;16344560;15537664;15489334;15231715;14702039;12477932;9110174;8619474;16189514;16169070;20094033;20937264;19648609;19766477;20404094;21209389;21355086;15316005;21044950;15383534;21906983;23251661 65057 Q96AP0;R4GMR6;R4GND4;R4GNJ5 ABBA01025451;AC010530;AF070535;AK023726;AK125623;AK301090;AMYH01007751;AY502940;AY971883;BC016904;CH471092;DB040017;NM_001082486;NM_001082487;NM_022914 AAH16904;AAS80318;AAX82621;BAB14658;BAG62692;EAW83154;EAW83155;NP_001075955;NP_001075956;NP_075065;Q96AP0 Hs.78019 1649461;1684624;1797134;2170058 LOC24432;RH64901;RH78775;SHGC-61086 PIP1;PTOP;TINT1;TPP1 OTTHUMP00000174851;OTTHUMP00000174852;POT1 and TIN2 organizing protein;POT1 and TIN2-interacting protein;TIN2 interacting protein 1;adrenocortical dysplasia protein homolog APPROVED protein-coding ENSG00000102977 25070 12417 609377 REVIEWED 1312176 ACER2 alkaline ceramidase 2 The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010] 9 9 9 p22.1 19335075 19378570 + 19398925 19442500 + 19408925 19452500 + 6480464;6907045 18945876;16940153;15498874;15489334;15164053;12477932;20089856;20379614;20628055 340485 B3KVV5;Q5QJU3 ABBA01065196;AF370405;AK123581;AL158206;AL391834;AMYH01019271;AY312516;BC092487;CH471071;NM_001010887 AAH92487;AAQ15241;AAQ85132;BAG53917;EAW58634;NP_001010887;Q5QJU3 Hs.41379 1647973;2218256 ASAH3L_4379;STS-H90280 ALKCDase2;ASAH3L;FLJ41587 N-acylsphingosine amidohydrolase 3-like;OTTHUMP00000021124;acylsphingosine deacylase 3-like;alkCDase 2;alkaline CDase 2;alkaline ceramidase 2;ceramide hydrolase;haCER2 APPROVED protein-coding 23675 16512 613492 VALIDATED 1353263 ACHM1 achromatopsia (rod monochromacy) 1 7240710 1347967 6021 109 248200;262300 735878 ACHE acetylcholinesterase Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. [provided by RefSeq, Jul 2008] 7 7 q22 100325551 100331477 - 100487615 100493541 - 1300048;1580863;1300342;1300297;1300239;2312424;2312432;2312438;2301195;2312430;2301197;2312437;5509843;5509844;5509842;5509846;5509847;5509849;5509850;5688128;5688055;5688130;6480464;5688131;5510037;5688054;5688133;5688127;6907045 734904;10087275;704405;19374834;19296211;2658981;126256;19303406;334962;1385785;20088621;16581404;17986328;19474411;21991983;20645790;20053170;21921108;17657467;21303225;20464061;11403956;19453088;7634486;2953866 1517212;11283752;12524166;3954986;12769797;15454088;16289501;14766237;8460160;19468687;19371631;19371630;19327769;19294450;19185568;19156168;19086053;19019080;18780301;18769671;18612832;18470725;18454940;18344198;18299393;18258603;18215127;18194455;18161504;17984143;17948252;17729290;17702992;17606622;17503475;17476278;17370251;17335779;17320203;17272501;17192673;17192630;17192624;16996687;16909200;16832351;16801396;16516310;16429485;16375580;16262697;16256968;16256091;16213467;15974920;15974894;15783300;15715671;15690550;15629887;15526038;15488495;15474030;15459952;15161650;15123727;15078872;15060281;12963741;12928915;12853948;12851386;12811800;12690205;12609505;12604711;12548360;12477932;12466963;12427014;12140295;12081473;12069617;12009429;11804574;11799248;11239002;11053835;11002295;10837146;9847074;9811904;9689136;9640563;9579781;8488842;8449945;8299725;8280063;8248502;8125298;7836436;7085778;3319614;2734315;2714437;2263619;1748670;1744105;1609795;1391965;1380483;21530001;21621296;20138030;20338155;20356562;20398640;20433814;18457821;19051205;19730683;20193849;20398908;20431033;8349597;10800960;20173328;20883446;19913121;20529763;20602615;20628086;20964587;21490949;21274871;21730071;21473860;21493754;21377978;21795704;21576115;23440190;22142546;23119107;23047022;23047027;23063927;22990020;19912576;20156100;22560633;22805525 43 C9J2S3;C9JD78;C9JUK5;C9JZL6;F8WAR7;F8WD34;F8WD68;Q53F46 ABBA01013176;AC011895;AF002993;AF312032;AF334270;AK223443;AK291321;AMYH01017746;AY389977;AY750146;BC001541;BC026315;BC036813;BC094752;BC105060;BC105062;BC143469;BG707892;CH236956;CH471091;L06484;L42812;M55040;NG_007474;NM_000665;NM_015831;S71129 AAA68151;AAC60618;AAH36813;AAI05061;AAI05063;AAI43470;AAK21003;AAO32948;AAP22364;AAP22365;AAR26654;AAU43801;BAD97163;BAF84010;EAL23812;EAL23813;EAW76460;EAW76461;EAW76462;EAW76463;EAW76464;NP_000656;NP_056646;P22303 Hs.154495 1769989;2157266 RH17909;STS-M55040 ACEE;ARACHE;N-ACHE;YT OTTHUMP00000211345;OTTHUMP00000211346;OTTHUMP00000211347;OTTHUMP00000211349;OTTHUMP00000211356;Yt blood group;acetylcholinesterase;acetylcholinesterase (Yt blood group);apoptosis-related acetylcholinesterase APPROVED protein-coding ENSG00000087085 108 00010 100740;112100 REVIEWED 1343783 ACLS acrocallosal syndrome 7240710 46 114 200990;614120 737323 ACE angiotensin I converting enzyme This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. [provided by RefSeq, May 2010] 17 17 q23.3 58908166 58928711 + 61554422 61575741 + 1581742;1566491;1566498;1598433;1300340;1331525;1601113;1601115;1580863;1601114;1300243;2313799;4140923;4140922;4140920;4140480;2325220;2325221;4140486;2325224;2325227;2325229;2325231;2325232;2325226;2325207;2325213;2325225;2311449;2325208;4140933;2325211;4140915;2325215;4140485;4140914;4140916;4140917;4140918;4140930;4140487;4140925;4140478;4140913;4140488;4140919;4140912;2325233;4140483;4140926;5129168;6480464;6893480;6893484;6893483;6893472;6903283;6893481;6893471;6907045;7240710 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1636 B4DKH4;F5H1K1;F6X3S4;J3KRH5;J3KRQ0;J3KS28;J3KSQ5;J3KTB8;J3KTH9;J3QKZ3;J3QLR4;J3QRX8;J3QSC7;L7MUH0;P12821 A31567;AB208971;ABBA01035331;AC113554;AF118569;AF229986;AK296566;AK300516;AK301988;AK302019;AK309514;AMYH01008548;AY436326;AY999972;AY999973;BM908180;BM908222;CH471109;EU332840;J04144;JQ927553;M26657;M29981;NG_011648;NM_000789;NM_001178057;NM_152830;S81361;X16295 AAA51684;AAA60611;AAD14360;AAD28560;AAD28561;AAR03504;ABA39228;ABA39229;ABY87529;AFK65504;BAD92208;BAG59186;BAG62228;BAG63395;BAG63418;CAA02045;CAA34362;EAW94311;EAW94312;EAW94313;EAW94314;EAW94315;EAW94316;EAW94317;EAW94318;EAW94319;EAW94320;EAW94321;NP_000780;NP_001171528;NP_690043;P12821 Hs.298469 1721485;1741939;1745685;1745687;1794286;1794288;1852474;2117682;2155720;5017675 ACE;G59596;GDB:186915;GDB:631883;GDB:631894;PMC310924P2;PMC310924P3;RH17589;SHGC-175;SHGC-57821 ACE1;CD143;DCP;DCP1;ICH;MGC26566;MVCD3 CD143 antigen;OTTHUMP00000206956;angiotensin 1 converting enzyme 1;angiotensin I converting enzyme (peptidyl-dipeptidase A) 1;angiotensin I converting enzyme peptidyl-dipeptidase A 1 transcript;angiotensin converting enzyme, somatic isoform;angiotensin-converting enzyme;carboxycathepsin;dipeptidyl carboxypeptidase 1;dipeptidyl carboxypeptidase I;kininase II;peptidase P;testicular ECA 1643091 BP90_H APPROVED protein-coding ENSG00000159640 2707 00108 104300;106180;267430;612624;614519 REVIEWED 1346570 ACER3 alkaline ceramidase 3 11 11 11 q13.5 73879386 74042342 + 76249601 76411617 + 76571917 76734850 + 1580863;6480464;6907045 18619555;15489334;14702039;12477932;11356846;19834535;20068046;20379614;19913121;20628086;17207965;19322201 55331 B7Z2Q2;B7Z2V2;E9PIN9;E9PJS5;E9PKR3;E9PL35;E9PLZ9;E9PR08;F5GYA0;J3KN85;Q9NUN7 ABBA01017443;ABBA01017444;ABBA01017445;AF214454;AF327353;AK002100;AK293800;AK294978;AK295142;AK295327;AK308856;AK315000;AK316120;AMYH01003823;AP000752;AP002498;AP003119;BC049837;BC063034;BC073853;BG702017;CH471076;NM_018367 AAH73853;AAK71923;AAL56013;ADQ31994;BAA92085;BAG37496;BAH11598;BAH11938;BAH11988;BAH12032;BAH14491;EAW75009;EAW75010;EAW75011;EAW75012;NP_060837;Q9NUN7 Hs.23862 1670644;1737037;1738029;2121746;2125447;2128213;2177539;5093432 A009O40;D11S2785;D11S3647;G32714;RH36071;RH47059;RH65512;WI-11295 APHC;FLJ11238;PHCA OTTHUMP00000228961;OTTHUMP00000228966;OTTHUMP00000228967;OTTHUMP00000229029;OTTHUMP00000229030;alkCDase 3;alkaline CDase 3;alkaline ceramidase 3;alkaline dihydroceramidase SB89;alkaline phytoceramidase;phytoceramidase, alkaline protein-coding 16066 17844 VALIDATED 1353783 ACKR2 atypical chemokine receptor 2 This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. [provided by RefSeq, Jul 2008] 3 3 p21.3 42825968 42883779 + 42850964 42908775 + 632634;1580863;6480464 9364936 18822328;18714007;18708360;18676013;18201974;17607362;16814608;16344560;15489334;15084596;12671049;12594248;12477932;12406880;11821900;11238036;10781587;10725697;10725696;10706668;10702689;10364178;9405404;9139699;16014924;21151196;15067078;19074885;19446728;19632987;20147628;20237496;20404785;22796582;22867710;16148;21832049;22797410;23479571;22226505;22939232;23251661;23314186 1238 O00590;Q7Z7I1 ABBA01024762;ABBA01024763;AC099329;AF481959;AK313561;AMYH01013115;AY262687;BC008816;BC011588;BC011631;BC018716;BC020558;BC101629;BC112045;BE901130;BT006800;CH471055;DA853159;DQ229109;HC006866;NM_001296;U94888;Y12815 AAB97728;AAH08816;AAH11631;AAH20558;AAI01630;AAI12046;AAP20651;AAP35446;AAP42156;ACE87069;BAG36335;CAA73346;CBH19238;EAW64678;EAW64679;EAW64680;EAW64681;NP_001287;O00590 Hs.146346 2111216;2112626;5492999 D3S288;D3S4375;UniSTS:483590 CCR10;CCR9;CMKBR9;D6;MGC126678;MGC138250;hD6 C-C chemokine receptor D6;CC-chemokine-binding receptor JAB61;OTTHUMP00000164034;OTTHUMP00000209653;chemokine (C-C motif) receptor 9;chemokine (C-C) receptor 9;chemokine receptor CCR-10;chemokine receptor CCR-9;chemokine receptor D6;chemokine-binding protein 2;chemokine-binding protein D6 APPROVED protein-coding ENSG00000144648 1565 09095 602648 REVIEWED 1323663 ACIN1 apoptotic chromatin condensation inducer 1 Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 14 14 q11.2 22597616 22634663 - 23527773 23564823 - 1580863;6480464;6907045 10490026;11208865;12393560;18029348;17409846;17081983;16964243;16537548;16177823;21145461;16083285;15324660;15302935;14729942;12477932;9734811;16169070;18250153;19387494;19615784;19668232;19759913;20800603;16159877;19454010;17332742;18951082;12665594;22939629;16051665;17370265;19596686;20639865;19471022;21139048;21693764;21890473;22388736;22446626;22586326;19322201;21628590;23084401;20195357;22113938;22365833;23205493;15998806;22174317;22952844 22985 B4DQZ7;E7EQT4;G3V3B0;G3V3T3;Q9UKV3 AB014570;ABBA01061305;ABBA01061306;ABBA01061307;AF124726;AF124727;AF124728;AK299034;AL050382;AL117258;AL132780;AL833228;AMYH01005602;BC032770;BC140805;BX247975;CH471078;CX786860;NG_030461;NM_001164814;NM_001164815;NM_001164816;NM_001164817;NM_014977 AAD56724;AAD56725;AAD56726;AAI40806;BAA31645;BAG61109;CAB43681;CAD62309;CAH10608;EAW66186;EAW66187;EAW66188;NP_001158286;NP_001158287;NP_001158288;NP_001158289;NP_055792;Q9UKV3 Hs.124490 1738939;1771581;1771873;1847807;2183045;5491485 D14S791;G35632;MARC_15355-15356:1013456014:1;RH44611;SGC34831;WI-20153 ACINUS;ACN;DKFZp667N107;KIAA0670;fSAP152 OTTHUMP00000164548;OTTHUMP00000164549;OTTHUMP00000164550;OTTHUMP00000164551;OTTHUMP00000246163;OTTHUMP00000246164;apoptotic chromatin condensation inducer in the nucleus;functional spliceosome-associated protein 152 APPROVED protein-coding ENSG00000100813 17066 05191 604562 REVIEWED 732597 ACMSD aminocarboxymuconate semialdehyde decarboxylase The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Quinolinate is derived from alpha-amino-beta-carboxy-muconate-epsilon-semialdehyde (ACMS). ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign catabolite and thus prevent the accumulation of quinolinate from ACMS.[supplied by OMIM, Oct 2004] 2 2 2 q21.3 129309109 129372527 + 135312656 135376074 + 135596186 135659604 + 632265;1580863;6480464;6907045 12140278 16189514;15489334;12477932;19843166;21292315;23251661 130013 Q6ZV40;Q8TDX5 AB071418;ABBA01028189;ABBA01028190;AC016725;AK125008;AMYH01011115;BC016018;BC107420;BG428338;CH471058;NM_138326 AAH16018;AAI07421;AAY14997;BAB86938;BAC86023;EAX11649;EAX11650;EAX11651;EAX11652;NP_612199;Q8TDX5 Hs.655728 1697088;1761409;2114552;2116378;2173950 Cda11f02;RH102026;SHGC-145418;SHGC-36425;WI-14557 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase;OTTHUMP00000162500;OTTHUMP00000162501;picolinate carboxylase APPROVED protein-coding ENSG00000153086 19288 12326 608889 VALIDATED 1602221 ACKR4 atypical chemokine receptor 4 The protein encoded by this gene is a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudogene of this gene is found on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2013] 3 3 3 q22 130742371 130746875 + 133798784 133804072 + 132316094 132321382 + 6480464 10734104;10706668;10767544;16791897;15489334;12477932;11981810;11134065;9469451;8125298;19383822;16148;21988832;23341447 51554 H0Y9Z2;Q9NPB9 ABBA01059184;ABBA01059185;AC020632;AF110640;AF193507;AF233281;AK225927;AK304461;AK313923;AMYH01013502;AY221094;BC069438;BC095501;BQ015927;DC419249;HC305272;NM_016557;NM_178445 AAF44751;AAF59827;AAF61299;AAH69438;AAH95501;AAO65972;BAG36644;BAG65277;CBJ18620;NP_057641;NP_848540;Q9NPB9 Hs.310512;Hs.743547 1298229;1655241;1689779;1699964;1739555;1792054;1797360;1852438;2128143;2138450;5106961 A007H30;CCRL1_2475;D3S3127;D3S3147;D3S3456;D6S2427;PMC135942P1;RH103592;RH11977;RH69845;RH80321 CC-CKR-11;CCBP2;CCR-11;CCR10;CCR11;CCX CKR;CCX-CKR;CKR-11;PPR1;VSHK1 C-C CKR-11;C-C chemokine receptor type 11;CC chemokine receptor-like 1;OTTHUMP00000216426;OTTHUMP00000217053;chemocentryx chemokine receptor;chemokine, cc motif, receptor-like protein 1;orphan seven-transmembrane receptor, chemokine related APPROVED protein-coding ENSG00000129048 1611 07298 606065 REVIEWED 1343702 ACKR3 atypical chemokine receptor 3 This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. [provided by RefSeq, Jul 2008] 2 2 q37.3 237143119 237155736 + 237478380 237490997 + 1580863;6480464 22266857;22916293;17474147;19309748;18956235;18653785;18214534;18057003;17898181;17363734;16940167;16455976;16107333;15815621;15489334;12477932;12118328;10623723;8198609;1675791;1662665;1315461;22837378;22736769;20529825;23244149;20525755;20887389;20956518;20889540;18577758;20380740;20617529;2834384;20161793;18240029;19525223;19641136;19794961;20018651;20036838;20056178;20068066;20109310;20233927;20388803;20578990;21316111;21398406;20861157;16148;23599431;21695171;21349998;21627360;21730065;22472349;22525723;21655198;22300987;21857817;21906874;23039915;23070788;22180778;22232208;22070874;21778049;21986127;22457824;22531719;22524658;22152016;23352615;22088972;22173725;21963094;22736438;23000965;23244336;22956548;22645275;22745793;22978759;22987307 57007 P25106 ABBA01042574;AC079611;AF030297;AK291659;AMYH01011597;BC008459;BC036661;BM925428;BP426139;CH471063;DB455412;DQ822477;JA643399;JA643405;M64749;NM_020311;U67784;U73141 AAA62370;AAB16913;AAB18130;AAB94130;AAH36661;AAX93086;ABH01258;ABM82167;ABM85352;BAF84348;CCE67098;CCE67101;EAW71092;NP_064707;P25106 Hs.471751 1656853;2166969 RH78466;SHGC-57926 CMKOR1;CXC-R7;CXCR-7;CXCR7;GPR159;RDC-1;RDC1 C-X-C chemokine receptor type 7;CXC-R7;CXCR-7;G protein-coupled receptor;G-protein coupled receptor 159;G-protein coupled receptor RDC1 homolog;OTTHUMP00000164411;OTTHUMP00000203011;RDC-1;chemokine (C-X-C motif) receptor 7;chemokine orphan receptor 1 APPROVED protein-coding ENSG00000144476 23692 09882 610376 REVIEWED 1313002 ACN9 ACN9 homolog (S. cerevisiae) 7 7 7 q21.3 91439813 91504987 + 96584953 96649011 + 96745905 96811075 + 1580863;6480464 10103055;18163977;15489334;12853948;12690205;12477932;19913121;20628086;20877624 57001 F8W9V1;Q9NRP4 AACC02000013;ABBA01045754;AC073421;AC073900;AF201933;AMYH01017706;BC020621;BC022858;BC028409;CD557710;CH236949;CH471091;NM_020186 AAF86869;AAH20621;AAH22858;AAS07570;EAL24120;EAW76739;EAW76740;NP_064571;Q9NRP4 Hs.592269 1688606;1851020;2163992 D7S702;G17183;RH92173 DC11 OTTHUMP00000204979;protein ACN9 homolog, mitochondrial protein-coding ENSG00000196636 21752 16471 VALIDATED 10065 ACLY ATP citrate lyase ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 q21.2 37276705 37328798 - 40023179 40075272 - 1304191;1300342;1580863;1300238;2317316;2317309;6480464;6907045 1371749;734904;704404;11735100;17882277 16751776;17353931;19461003;18922930;18681781;18660489;17081983;15592455;15489334;15302935;14702039;14681844;12477932;10653665;9116495;8088842;6801225;6109001;3305493;2176822;19019082;21145461;22787121;19296078;19795461;20615871;8944226;20558738;18029348;20800603;20877624;20693577;23314748;21454710;20811636;21832049;22863883;22718913;16196087;17955473;21081666;21726077;19380743;21853274;22053931;22505724;22797925;22318606;22586326;18781797;21139048;21890473;21906983;22102020;21320693;22266777;16009940;21628590;22657152 47 B4E3P0;K7EIE7;K7ESG8;P53396 AB210035;ABBA01006446;ABBA01006447;ABBA01006448;AC091172;AC125257;AK095084;AK295675;AK304802;AK312315;AMYH01008388;AMYH01008389;BC006195;BG037168;CH471152;DQ575356;NM_001096;NM_198830;U18197;X64330 AAB60340;AAH06195;ADZ15525;BAC04484;BAE06117;BAG58532;BAG65552;CAA45614;EAW60777;EAW60778;EAW60779;EAW60780;EAW60781;NP_001087;NP_942127;P53396 Hs.387567 1649425;1653211;1744147;1754031;2125868;2158744;2184349;2184417 D17S1205;D17S1209;D17S2155;GDB:392280;SHGC-11986;SHGC-132072;WI-19716;WI-20027 ACL;ATPCL;CLATP ATP citrate synthase;ATP-citrate (pro-S-)-lyase;ATP-citrate synthase;OTTHUMP00000164772;OTTHUMP00000164773;citrate cleavage enzyme APPROVED protein-coding ENSG00000131473 115 00155 108728 REVIEWED 1605748 ACOT1 acyl-CoA thioesterase 1 14 14 14 q24.3 33178727 33185623 - 73073681 73080251 + 74003928 74010498 + 6480464 16940157;16103133;12477932;20736409;22939629;18029348 641371 E9KL42;G3V4F2;Q86TX2 ABBA01030756;AC005225;AK300886;AMYH01005845;BC127747;BC127748;BC132889;BC132891;BC143042;BX161396;DQ082754;GU727640;NM_001037161 AAI27748;AAI27749;AAI32890;AAI32892;AAI43043;AAZ31236;ADU87641;BAG62528;CAD61883;NP_001032238;Q86TX2 Hs.568046 1653277;1740767;2110049;2112144;2116333;2138076;2138696 A002Q22;D14S1209;D14S1367;D14S646E;G35993;G38315;ZAP128_9204 ACH2;CTE-1;LACH2 CTE-I;CTE-Ib;OTTHUMP00000246588;OTTHUMP00000246589;acyl-coenzyme A thioesterase 1;inducible cytosolic acyl-coenzyme A thioester hydrolase;long chain acyl-CoA hydrolase;long chain acyl-CoA thioester hydrolase protein-coding ENSG00000184227 33128 614313 VALIDATED 10067 ACO1 aconitase 1, soluble The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4Fe-4S cluster and functions as an aconitase. Aconitases are iron-sulfur proteins that function to catalyze the conversion of citrate to isocitrate. When cellular iron levels are low, the protein binds to iron-responsive elements (IREs), which are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA. When the protein binds to IRE, it results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degraded transferrin receptor mRNA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 9 9 p21.1 32374650 32440830 + 32384601 32450834 + 1300343;1580863;1300239;6480464;6907045 734906;704405 22561531;1946430;1903202;16527810;16144863;1738601;18262302;17613866;17604281;17521334;17244191;17200797;17127713;16503547;16424901;16407072;16344560;15938636;15543932;15489334;15349772;15099026;12972614;12855587;12572667;12477932;12196178;11812787;11783942;10944468;10419470;9020582;8764614;8262977;2771641;2172968;22544036;17877204;19688112;19762596;19762597;20354189;8041788;20558735;20569198;20574843;20877624;21360641;21832049;22502979;22863883;22939629;17242182;18029348;16027165;22505724;22318606;22331484;21139048;21890473;21906983;21963094;22020773;15342556;23000965;23382691 48 P21399;Q5VZA6;Q9HBB2 AB209480;ABBA01065085;ABBA01065086;AF261088;AK057904;AK308752;AL161783;AMYH01019319;BC018103;BP287929;CH471071;DA103947;DA409113;DA780353;DQ496106;M58510;NM_001278352;NM_002197;Z11559 AAA69900;AAF99681;AAH18103;ABF47095;BAD92717;CAA77651;EAW58549;EAW58550;EAW58551;EAW58552;NP_001265281;NP_002188;P21399 Hs.567229 1653876;1715089;1763049;1774810 D9S1955;RH119496;RH70753;SHGC-146792 ACONS;IREB1;IREBP;IREBP1;IRP1 IRE-BP 1;OTTHUMP00000021176;OTTHUMP00000021177;aconitate hydratase;aconitate hydratase, cytoplasmic;citrate hydro-lyase;cytoplasmic aconitate hydratase;ferritin repressor protein;iron regulatory protein 1;iron-responsive element binding protein 1;iron-responsive element-binding protein;iron-responsive element-binding protein 1 APPROVED protein-coding ENSG00000122729 117 00013 100880 REVIEWED 736721 ACOT12 acyl-CoA thioesterase 12 5 5 5 q14.1 76530237 76594485 - 80661839 80725712 - 80625947 80689988 - 1300048;6480464;6907045 16951743;16103133;15489334;14702039;12767336;12477932;11322891;20379614;22863734 134526 Q5FWE9;Q8WYK0 AB078619;ABBA01062055;AC008411;AC010623;AK122960;AMYH01015445;BC075010;BC075011;BC089437;CH471084;NM_130767 AAH75010;AAH75011;AAH89437;BAB84022;BAG53821;EAW95874;EAW95875;NP_570123;Q8WYK0 Hs.591756 5093356 G32671 CACH-1;Cach;MGC105114;STARD15;THEAL OTTHUMP00000161980;START domain-containing protein 15;StAR-related lipid transfer (START) domain containing 15;acyl-CoA thioester hydrolase 12;acyl-coenzyme A thioesterase 12;cytoplasmic acetyl-CoA hydrolase 1;cytoplasmic acetyl-coa hydrolase;cytosolic acetyl-CoA hydrolase;hCACH-1 protein-coding ENSG00000172497 24436 16680 614315 VALIDATED 733187 ACO2 aconitase 2, mitochondrial The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008] 22 22 q13.2 40195075 40254939 + 41865129 41924993 + 1300344;1580863;1300048;2306877;6480464;6907045 734909;9712727 1946331;9630632;18029348;19405953;19110265;16625280;16598741;16236267;15952740;15489334;15461802;14972331;12746427;12477932;12198491;11258795;10591208;9020582;8443405;7192199;22405087;1602151;1052766;879710;752479;752478;752476;19524665;20607720;20877624;12601813;16159877;22939629;21832049;16713569;18781797;21139048;21890473;19738201;19805454;22623428;23000965 50 A2A274;Q99798 AA724140;ABBA01055639;ABBA01055640;ABBA01055641;ABBA01055642;AF093096;AK293562;AK296260;AK297213;AK301321;AK302691;AK314845;AL008582;AL023553;AMYH01012803;BC014092;BC026196;CH471095;CR456365;CR536568;NG_032143;NM_001098;U80040;U87926;U87927;U87928;U87929;U87930;U87931;U87932;U87933;U87934;U87935;U87936;U87937;U87938;U87939 AAB38416;AAC39921;AAD19351;AAH14092;AAH26196;ABM84600;ABM86762;BAG37362;BAG57034;BAG58973;BAG59696;BAG62870;BAG63920;CAG30251;CAG38805;CAK54363;CAK54662;EAW60435;EAW60436;NP_001089;Q99798 Hs.643610 1648242;1674500;1676051;1690041;1744321;1770293;2122822;2161054;2191721;5020337 A007B26;D22S1253;D22S678;D22S998E;GDB:451682;MARC_5597-5598:1044046898:1;RH11189;RH11380;RH47879;RH48483 ACONM;ICRD;MGC20605;MGC33908 OTTHUMP00000165920;OTTHUMP00000165921;aconitate hydratase, mitochondrial;citrate hydro-lyase;mitochondrial aconitase (nuclear aco2 gene) APPROVED protein-coding ENSG00000100412 118 00012 100850;614559 REVIEWED 1605006 ACOT4 acyl-CoA thioesterase 4 14 14 14 q24.3 54094503 54098556 + 73128163 73132223 + 74058410 74062470 + 6480464 16940157;18029348;16141203;16103133;15489334;14702039;12477932;10944470;10567408;7596406;20178365 122970 Q8N9L9 ABBA01030751;AC005225;AK055797;AK094223;AMYH01005845;BC031799;BC090945;BC117341;BC117343;BX248023;BX248047;CH471061;NM_152331 AAH31799;AAH90945;AAI17342;AAI17344;BAB71017;BAC04313;CAD62346;CAD62354;EAW81120;EAW81121;NP_689544;Q8N9L9 Hs.49433 2217868 PTE2B_3639 PTE-Ib;PTE1B;PTE2B OTTHUMP00000241252;PTE-2b;acyl-coenzyme A thioesterase 4;peroxisomal acyl coenzyme A thioester hydrolase Ib;peroxisomal acyl-CoA thioesterase 2B;peroxisomal long-chain acyl-CoA thioesterase Ib protein-coding 19748 17928 614314 VALIDATED 1317612 ACOT11 acyl-CoA thioesterase 11 This gene encodes a member of the acyl-CoA thioesterase family which catalyse the conversion of activated fatty acids to the corresponding non-esterified fatty acid and coenzyme A. Expression of a mouse homolog in brown adipose tissue is induced by low temperatures and repressed by warm temperatures. Higher levels of expression of the mouse homolog has been found in obesity-resistant mice compared with obesity-prone mice, suggesting a role of acyl-CoA thioesterase 11 in obesity. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] 1 1 1 p32.3 53301456 53387997 + 54786489 54873005 + 55013807 55100417 + 6480464 11696000;16103133;15489334;14702039;12477932;9734811;8125298;20379614;16344560;19913121;20628086;20470824;22897136 26027 Q8WXI4 AB014607;ABBA01074711;ABBA01074712;AC099796;AF416921;AF416922;AK023937;AK091112;AK223570;AL590093;AL713723;AMYH01000636;AMYH01000637;AMYH01000638;AMYH01000639;AMYH01000640;BC001517;BC093844;BC093846;CH471059;DA121227;NM_015547;NM_147161 AAH01517;AAH93844;AAH93846;AAL40937;AAL40938;BAA31682;BAB14734;BAD97290;EAX06682;EAX06683;EAX06684;NP_056362;NP_671517;Q8WXI4 Hs.234786 1338206;1692222;1693232;2106719;2142480;5015881;5015961;5037552;5118576;7184044 AL033560;AL033766;D11S3430;D15S1477;D3S1611;D8S2279;GDB:335751;SHGC-74880;THEA__5252 BFIT;BFIT1;BFIT2;DKFZp667O1916;KIAA0707;STARD14;THEA;THEM1 OTTHUMP00000011526;OTTHUMP00000011527;START domain containing 14;StAR-related lipid transfer (START) domain containing 14;acyl-CoA thioester hydrolase 11;acyl-coenzyme A thioesterase 11;adipose-associated thioesterase;brown fat inducible thioesterase;brown fat-inducible thioesterase;thioesterase superfamily member 1;thioesterase, adipose associated APPROVED protein-coding ENSG00000162390 18156 07075 606803 REVIEWED 1605691 ACOT2 acyl-CoA thioesterase 2 This gene encodes a member of the acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] 14 14 14 q24.3 54071870 54078454 + 73105525 73112112 + 74034324 74042362 + 1625728;2315862;2315861;6480464 16979414;15292030;17438340 17353931;10944470;16940157;19497300;16103133;15489334;15007068;14702039;12665801;12477932;8125298;7596406;20379614;20877624;21139048;21890473;21987572 10965 B3KSA0;P49753 ABBA01030752;AC005225;AI537078;AK001939;AK093131;AK223635;AMYH01005845;AY005822;BC004436;BC006335;BC006500;DQ082755;L40401;NM_006821;NR_046028 AAC42007;AAF97985;AAH04436;AAH06335;AAH06500;AAZ31237;ABM84414;ABM87405;BAA91989;BAD97355;BAG52662;NP_006812;P49753 Hs.446685 1653277;1740767;2110049;2112144;2112152;2116333;2138696 A002Q22;D14S1209;D14S1367;D14S1377;D14S646E;G38315;ZAP128_9204 CTE-IA;CTE1A;MTE1;PTE2;PTE2A;ZAP128 CTE-Ia;OTTHUMP00000246591;acyl-coenzyme A thioester hydrolase 2a;acyl-coenzyme A thioesterase 2, mitochondrial;long-chain acyl-CoA thioesterase 2;mitochondrial acyl-CoA thioesterase 1;mitochondrial acyl-CoA thioesterase 2;peroxisomal long-chain acyl-coA thioesterase 2 APPROVED protein-coding ENSG00000119673 18431 10173 609972 VALIDATED 1605747 ACOT6 acyl-CoA thioesterase 6 14 14 14 q24.3 54119631 54122671 + 73153301 73156345 + 74083548 74086592 + 6480464 16940157;16103133;12477932;21822266 641372 G3V3W6;Q3I5F7 ABBA01030750;AC005225;AMYH01005845;BC126378;BC126380;CH471061;DQ082756;NM_001037162 AAI26379;AAI26381;AAZ31238;ADR82840;EAW81122;NP_001032239;Q3I5F7 Hs.122038 2124845 G38172 C14orf42;MGC161656;MGC161658;c14_5530 OTTHUMP00000246593;putative acyl-CoA thioesterase 6;putative acyl-coenzyme A thioesterase 6 protein-coding ENSG00000205669 33159 614267 VALIDATED 1315172 ACOT13 acyl-CoA thioesterase 13 This gene encodes a member of the thioesterase superfamily. In humans, the protein co-localizes with microtubules and is essential for sustained cell proliferation. The orthologous mouse protein forms a homotetramer and is associated with mitochondria. The mouse protein functions as a medium- and long-chain acyl-CoA thioesterase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2009] 6 6 6 p22.3 25900605 25938673 + 24775254 24809921 + 24667263 24705297 + 1580863;6480464 19405909;19170545;18095154;17704541;17045243;16934754;16344560;15489334;14702039;14574404;12477932;10931946;8889548;21319273;20877624;22939629;18624398;22262880;21139048 55856 Q9NPJ3 ABBA01066538;AF155649;AF220186;AF274952;AK000508;AK309738;AL031775;AMYH01016151;BC000894;BG568305;CB852340;CH471087;CS072377;DB214267;NM_001160094;NM_018473 AAF67006;AAF67651;AAH00894;AAK07529;BAA91215;CAI93515;EAW55460;NP_001153566;NP_060943;Q9NPJ3 Hs.731605 1657201;1670349;1735590;1792864;1792870;2133526;2164990 D6S1127E;D6S2130;PMC166143P4;PMC166143P7;RH36217;RH68224;STS-AA033712 HT012;MGC4961;PNAS-27;THEM2 OTTHUMP00000016090;acyl-coenzyme A thioesterase 13;hypothalamus protein HT012;thioesterase superfamily member 2 APPROVED protein-coding ENSG00000112304 20999 07158 REVIEWED 1606811 ACOT9 acyl-CoA thioesterase 9 The protein encoded by this gene is a mitochondrial acyl-CoA thioesterase of unknown function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] X X X p22.11 27842554 27882190 - 23631698 23671328 - 23721777 23761407 - 6480464 16103133;14702039;12477932;10810093;10383425;20186120;18781797;20360068;22114354;21139048;21890473;21906983;22797925 23597 C9J7L8;F8WDI2;H7C5Q2;Q9Y305 ABBA01072215;ABBA01072216;ABBA01072217;ABBA01072218;ABBA01072219;ABBA01072220;ABBA01072221;ABBA01072222;AC093011;AC131011;AF132950;AF241787;AK000659;AK024337;AL548456;AMYH01022151;BC012573;BC136671;BC144360;BC144370;BX648512;CH471074;NG_016780;NM_001033583;NM_001037171 AAD27725;AAG44475;AAH12573;AAI36672;AAI44361;ADZ15671;BAG51291;EAW98997;EAW98998;NP_001028755;NP_001032248;Q9Y305 Hs.298885 1662408;5016478;5022578 D1S1423;GDB:434012;STS-W05354 ACATE2;CGI-16;MT-ACT48;MTACT48 OTTHUMP00000023065;OTTHUMP00000023068;OTTHUMP00000215275;OTTHUMP00000215276;acyl-CoA thioester hydrolase 9;acyl-Coenzyme A thioesterase 2, mitochondrial;acyl-coenzyme A thioesterase 9, mitochondrial;mitochondrial Acyl-CoA Thioesterase APPROVED protein-coding ENSG00000123130 17152 06438 300862 REVIEWED 70372 ACOT8 acyl-CoA thioesterase 8 The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. [provided by RefSeq, Oct 2010] 20 20 q13.12 43903768 43919442 - 44470360 44486048 - 1580863;6480464 10092594;9153233;17624024;16940157;16335799;16141203;16103133;15489334;15194431;14702039;12477932;11780052;11755680;11549316;10944470;10807905;9299485;10799608;16756494;17314511;21139048;14709540;16009940;21824805;22190034 10005 E9PIS4;E9PJN0;E9PMC4;E9PRD4;F6VBM3;H0Y698;H7C5A7;O14734;Q9BR14 ABBA01052667;ABBA01052668;AF014404;AF124264;AK056668;AK292494;AK296973;AK298783;AL008726;AMYH01011939;BC117155;BC117157;BI911038;BM986979;CH471077;CR541771;CR541778;DB470803;NM_005469;X86032 AAB71665;AAD27616;AAI17156;AAI17158;ADR82946;BAF85183;BAG51780;BAG59516;BAG60922;CAA60024;CAG46570;CAG46577;EAW75794;EAW75795;EAW75796;EAW75797;EAW75798;NP_005460;O14734 Hs.444776 1678925;1848243;2118627;2152180 D20S569E;RH12567;RH71172;RH80960 HNAACTE;PTE-1;PTE-2;PTE1;PTE2;hACTE-III;hTE 4,8-dimethylnonanoyl-coa thioesterase;HIV-Nef associated acyl-CoA thioesterase;HIV-Nef-associated acyl-CoA thioesterase;OTTHUMP00000031675;OTTHUMP00000214962;PTE-1;acyl-coenzyme A thioesterase 8;choloyl-CoA hydrolase;choloyl-coenzyme A thioesterase;hACTEIII;long-chain fatty-acyl-CoA hydrolase;palmitoyl-CoA hydrolase;peroxisomal acyl-CoA thioesterase 1;peroxisomal acyl-coenzyme A thioester hydrolase 1;peroxisomal long-chain acyl-CoA thioesterase 1;thioesterase II;thioesterase III APPROVED protein-coding ENSG00000101473 15919 06998 608123 REVIEWED 1344840 ACOX1 acyl-CoA oxidase 1, palmitoyl The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 17 17 q25.1 71449183 71487039 - 73937588 73975515 - 1298651;1580863;6480464;7240710 8159712 8117268;7876265;18281296;18660489;18536048;17458872;17081983;16396496;16381901;15489336;15489334;14702039;12477932;11815777;11230166;11076863;10960480;10856712;8798738;8507686;8125298;8040306;7668838;1464743;17603022;16756494;20195242;22939629;17881773;21139048;22002062;20178365 51 I3L0T4;I3L2U4;I3L4S5;K7ELT1;K7ENF1;K7ESC7;Q16131 ABBA01028765;ABBA01028766;ABBA01028767;AC040980;AC087289;AK095501;AK225897;AK291793;AK292965;AK296409;AK300447;AK308218;AMYH01008635;AMYH01008636;BC008767;BC010425;BQ943492;BX537380;CH471099;DC297086;HB873087;HB882949;HB894278;HC930496;HC940358;HC951687;NG_008190;NM_001185039;NM_004035;NM_007292;S69189;U03254;U03268;U07866;X71440 AAA18595;AAA19113;AAA19114;AAB30019;AAH08767;AAH10425;BAF84482;BAF85654;BAG59073;BAG62169;CAA50574;CAD97622;CAL38034;CBF60587;CBF65740;CBF73135;CBU85830;CBU90611;CBU96027;EAW89349;EAW89350;EAW89351;EAW89352;NP_001171968;NP_004026;NP_009223;Q15067 Hs.464137 1651313;1668319;1722507;1743495;2106411;2153318;2153969;2169779;2171351;2172301;2172303;5015861;5016478;5016504;5020414;5020948;5021396;5109281;5117518;5117520;5117524;7185938 A005O17;ACOX1_4327;D10S16;D1S1425;G20374;G35510;G60178;GDB:313783;GDB:340951;GDB:434012;GDB:574052;GDB:574056;GDB:574062;GDB:574064;L17688;RH16305;RH16429;RH65536;SHGC-30509;SHGC-34016;SHGC-57116 ACOX;MGC1198;PALMCOX;SCOX AOX;acyl-CoA oxidase, straight-chain;acyl-Coenzyme A oxidase 1, palmitoyl;palmitoyl-CoA oxidase;peroxisomal acyl-coenzyme A oxidase 1;peroxisomal fatty acyl-CoA oxidase;straight-chain acyl-CoA oxidase APPROVED protein-coding ENSG00000161533 119 02030 264470;609751 REVIEWED 733878 ACOT7 acyl-CoA thioesterase 7 This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 p36 5438842 5568337 - 6246919 6376413 - 6324332 6453826 - 6480464 10578051;16713569;16710414;16103133;15731883;15592755;15489334;14702039;12477932;12435388;21110914;21319273;18029348;19305408;19724895;19851296;20198315;22863883;21044950;21139048;21890473;21906983;22053931;22505724 11332 B4DUX0;F5GWE2;K7EKP8;Q9Y540 AB074415;AB074416;AB074417;AB074418;AB074419;ABBA01035443;ABBA01035444;ABBA01035445;ABBA01035446;ABBA01035447;ABBA01035448;AK057168;AK289572;AK290097;AK291583;AK292202;AK300831;AL031847;AL031848;AL702662;AMYH01000211;AMYH01000212;BC017365;BG332214;BM807217;BQ067921;BT006888;BU594651;CH471130;D88894;NM_007274;NM_181864;NM_181865;NM_181866;U91316 AAB61211;AAH17365;AAP35534;BAA24350;BAC20174;BAC20175;BAC20176;BAC20177;BAC20178;BAF82261;BAF82786;BAF84272;BAF84891;BAG51874;BAG62482;EAW71527;EAW71528;EAW71529;EAW71530;EAW71531;EAW71532;NP_009205;NP_863654;NP_863655;NP_863656;O00154 Hs.126137 1341964;1679433;1730157;1732792;1740163;1757005;1759051;2110281;2112928;2136274;5017512;5023485 ACOT7;BACH_9265;D1S1250;D1S2335E;D1S253;D1S2531;D1S3703;RH91132;SHGC-144364;SHGC-151038;SHGC-74153;STS-W44582 ACH1;ACT;BACH;CTE-II;LACH;LACH1;MGC1126;RP1-120G22.10;hBACH CTE-IIa;OTTHUMP00000001410;OTTHUMP00000001413;OTTHUMP00000001414;OTTHUMP00000001415;OTTHUMP00000200492;OTTHUMP00000200493;acyl-CoA thioesterase 2;acyl-CoA thioesterase, long chain;brain acyl CoA hydrolase;cytosolic acyl coenzyme A thioester hydrolase;long chain acyl-CoA thioester hydrolase APPROVED protein-coding ENSG00000097021 24157 12517 602587 REVIEWED 735528 ACOX2 acyl-CoA oxidase 2, branched chain The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe mental retardation, and death in children. [provided by RefSeq, Mar 2009] 3 3 3 p14.3 58504526 58536479 - 58465903 58497956 - 58490863 58522929 - 1580863;1300345;1300244;6480464;6907045 734910;704421 8943006;15489334;12477932;9070889;8993592;8387517;16756494;20379614;21343950;2079609 8309 C9J0G0;C9JY29;H7C4Q2;H7C4Y2;H7C573;Q99424 ABBA01024380;ABBA01024381;AC116036;AJ001541;AK298402;AK313512;AMYH01013229;BC033517;BC047700;BG698950;BI490007;CH471055;HB873093;HB882955;HB894284;HC930502;HC940364;HC951693;NM_003500;X95190 AAH47700;BAG36292;BAG60633;CAA64489;CAB65596;CBF60593;CBF65743;CBF73142;CBU85833;CBU90614;CBU96030;EAW65375;EAW65376;EAW65377;NP_003491;Q99424 Hs.444959 1663132;5017130 RH71302;SHGC-33100 BCOX;BRCACOX;BRCOX;THCCox 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase;3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase;OTTHUMP00000214196;OTTHUMP00000214197;THCA-CoA oxidase;acyl-Coenzyme A oxidase 2, branched chain;peroxisomal acyl-coenzyme A oxidase 2;peroxisomal branched chain acyl-CoA oxidase;trihydroxycoprostanoyl-CoA oxidase APPROVED protein-coding ENSG00000168306 120 09037 601641 REVIEWED 736892 ACOX3 acyl-CoA oxidase 3, pristanoyl Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008] 4 4 4 p15.3 8261321 8335759 - 8418909 8493352 - 8368009 8442452 - 1580863;1300048;6480464 9271077;16344560;15599942;15489334;15231748;12477932;8387517;8125298;20677014;16756494;20877624;21659360;20178365;8993592;21906983;22505724 8310 D6RJ89;O15254 ABBA01008698;ABBA01008699;AC104825;AK225080;AK313242;AMYH01013928;AMYH01013929;BC017053;CA306669;CH471131;DA949869;HB873065;HB882927;HB894256;HC930474;HC940336;HC951665;NM_001101667;NM_003501;Y11411 AAH17053;BAG36053;CAA72214;CBF60575;CBF65729;CBF73112;CBU85819;CBU90600;CBU96016;EAW82339;EAW82340;EAW82341;EAW82342;NP_001095137;NP_003492;O15254 Hs.479122 1652167;1658111;1766217;1766627;2110169;2142105;2142107;2143225;2161758;5107447 A002B29;D4S1188;D4S1213;G19895;G33926;G65142;SHGC-149580;SHGC-149925;SHGC-32080;st517p6-8d3 BRCACox;OTTHUMP00000115592;OTTHUMP00000217516;OTTHUMP00000219320;acyl-Coenzyme A oxidase 3, pristanoyl;branched-chain acyl-CoA oxidase;peroxisomal acyl-coenzyme A oxidase 3;pristanoyl-CoA oxidase APPROVED protein-coding ENSG00000087008 121 04552 603402 VALIDATED 1315641 ACOXL acyl-CoA oxidase-like 2 2 2 q13 105140860 105526394 + 111206680 111568392 + 111490150 111875799 + 1580863;6480464 21145461;18758461;15146197;14702039;12477932;19773279;20332261;20731705;21738478;22197929;22219177;22566634;22700719;23222517 55289 B4DU63;C9JQI3;H7C0A6;H7C2M3;H7C345;Q8TCE7 ABBA01001561;AC023131;AC096591;AC096670;AC114776;AK001904;AK300513;AMYH01010925;BC022268;BC131514;BX282060;CH471237;CN426904;CX788840;NM_001142807 AAH22268;AAI31515;AAY14796;AAY14838;AAY24074;BAA91970;BAG62225;EAW50357;EAW50358;EAW50359;EAW50360;NP_001136279;Q9NUZ1 Hs.253320 1700714;1727939;1757129;1762373;1784000;1784230;2135404;5494153 G63388;RH103981;SHGC-14171;SHGC-142669;SHGC-144565;SHGC-146201;SHGC-156035;fb58h05 FLJ11042 OTTHUMP00000161929;OTTHUMP00000204261;OTTHUMP00000225186;acyl-CoA oxidase-like protein;acyl-coenzyme A oxidase-like protein APPROVED protein-coding ENSG00000153093 25621 12418 VALIDATED 1317948 ACPT acid phosphatase, testicular Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 48344629 48349438 + 55985484 55990293 + 51293672 51298481 + 6480464;6907045 15219672;11414767 93650 Q9BZG2 ABBA01068298;AC010325;AF321918;AMYH01009945;CH471135;NM_033068 AAI40295;AAI46507;AAK09393;AAK09394;AAK09395;AAK09396;EAW71900;EAW71901;EAW71902;EAW71903;EAW71904;NP_149059;Q9BZG2 Hs.293394 testicular acid phosphatase APPROVED protein-coding ENSG00000142513 14376 06964 606362 REVIEWED 736505 ACPP acid phosphatase, prostate This gene encodes an enzyme that catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is synthesized under androgen regulation and is secreted by the epithelial cells of the prostate gland. An alternatively spliced transcript variant encoding a longer isoform has been found for this gene. This isoform contains a transmembrane domain and is localized in the plasma membrane-endosomal-lysosomal pathway. [provided by RefSeq, Sep 2008] 3 3 q22.1 133518949 133560294 + 132036211 132087146 + 1300346;1300246;1580863;1300048;2301055;2301054;2301052;6480464;6907045 734913;704423;16024648;17991541;15240830 22354963;19403677;19108401;18940592;17638863;17455230;16076555;16004602;15985366;15862967;15578709;15280042;14690244;14623260;12962324;12719131;12525165;12477932;12362977;12032838;11983210;11833784;11784334;11739538;11547122;11377343;11067847;10851066;10639192;10506719;10477906;10452601;9804805;9708626;9705354;9584847;9187691;8407898;8244395;8132635;8110833;8037752;7951074;7923807;2965059;2842184;2712834;2411954;2395659;1989985;1699876;1696855;1375464;480493;76687;20392611;20645695;19301031;19636017;19759923;19902966;20379614;20498373;21487525;17658863;16196087;22082367;22090109;18083097 55 E9PFE6;H0Y8T3;P15309;Q5FBY0 AA578274;AB102888;ABBA01059186;ABBA01059187;AC020633;AK300540;AMYH01013501;AW136372;BC007460;BC008493;BC016344;BC017877;BQ100881;CH471052;DC383453;M24902;M34840;M97589;NM_001099;NM_001134194;U07086;U07097;X52174;X53605;X71391;X74961 AAA60021;AAA60022;AAA69694;AAB60640;AAH07460;AAH08493;AAH16344;AAH17877;ABM84074;ABM87442;BAD89417;BAG62248;CAA36422;CAA37673;CAA50514;CAA52913;EAW79201;EAW79202;EAW79203;EAW79204;EAW79205;NP_001090;NP_001127666;P15309 Hs.433060 1336743;1695276;1741345;1741521;1744475;2151056;2172319 D3S1596;G10726;GDB:180742;GDB:181274;GDB:455656;SHGC-62995;STS-M24902 5'-NT;ACP-3;ACP3;PAP 5'-nucleotidase;OTTHUMP00000216106;OTTHUMP00000216107;OTTHUMP00000216108;TMPase;ecto-5'-nucleotidase;prostatic acid phosphatase;prostatic acid phosphotase;thiamine monophosphatase APPROVED protein-coding ENSG00000014257 125 01378 171790 REVIEWED 1342803 ACPL2 acid phosphatase-like 2 3 3 3 q23 139374122 139436924 + 142433372 142496176 + 140950682 141013486 + 1580863;6480464 12975309;12477932;19893584;20379614;19734545;22505724 92370 B7Z3R9;B7Z4T2;D6R928;D6RDP0;D6RE60;D6RGE3;E9PDB7;Q8TE99;Q9NT50 ABBA01059048;ABBA01059049;AC022215;AC117383;AK074331;AK296292;AK297790;AK316121;AL137529;AMYH01013542;AY358460;BC035834;BC036701;BX647621;CA421956;CD101677;CH471052;NM_001037172;NM_152282 AAH35834;AAH36701;AAQ88825;BAB85053;BAH12305;BAH12668;BAH14492;CAB70793;EAW79007;EAW79008;EAW79009;NP_001032249;NP_689495;Q8TE99 Hs.657887 1773154;1784702;5113435 RH91992;SHGC-149506;STS-H57427 FLJ23751 OTTHUMP00000217721;OTTHUMP00000217722;OTTHUMP00000217723;OTTHUMP00000217724;OTTHUMP00000217725;OTTHUMP00000217726;acid phosphatase-like protein 2 protein-coding ENSG00000155893 26303 08675 VALIDATED 10071 ACP2 acid phosphatase 2, lysosomal This gene encodes the beta subunit of lysosomal acid phosphatase (LAP). LAP is chemically and genetically distinct from red cell acid phosphatase. The encoded protein belongs to a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. Mutations in this gene or in the related alpha subunit gene cause acid phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Aug 2008] 11 11 p11.2 47217429 47226939 - 47260853 47270457 - 1300245;1580863;1300048;4892631;6480464;6907045 9228031;18690537 3191910;2776754;17357082;16344560;15489334;12477932;11801736;9110174;9040486;8619474;7576159;6970673;6651479;6193776;6164873;5410815;3904632;3160696;975882;730175;69583;19064571;22939629;16196087;21987572 53 B7Z6U3;B7Z7D2;E9PHY0;E9PKW9;E9PP23;E9PQW9;E9PQY3;F5GWV7;G5EA28;P11117 ABBA01060721;AC018410;AK298122;AK298439;AK299382;AK300569;AK300911;AK300931;AK301860;AK303894;AK308512;AK311431;AMYH01003541;AY007137;BC003160;BC093010;CH471064;DA382854;DC337294;NG_023296;NM_001131064;NM_001610;X12548;X15525;X15535 AAH03160;AAH93010;ABM83595;ABM86839;BAH12728;BAH12788;BAH13021;BAH13304;BAH13374;BAH13379;BAH13568;BAH14075;CAA31064;CAA33542;EAW67950;EAW67951;NP_001124536;NP_001601;P11117 Hs.532492 1682337;1686110;1712116;1742555;1847258;1847360;2156001 D11S4389;G54107;GDB:197878;RH18246;RH27367;RH27445;RH79156 LAP;OTTHUMP00000234497;OTTHUMP00000234498;OTTHUMP00000234499;OTTHUMP00000234584;OTTHUMP00000234586;OTTHUMP00000234587;OTTHUMP00000234588;OTTHUMP00000234663;acid phosphatase 2;lysosomal acid phosphatase APPROVED protein-coding ENSG00000134575 123 01375 171650;200950 REVIEWED 10069 ACP1 acid phosphatase 1, soluble The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008] 2 2 p25 254872 268283 + 264869 278283 + 1625289;1358577;1625288;1580863;1300048;2313182;2313184;2313187;2313188;2313186;2313179;2313180;2313183;6480464;6484113;6907045 12231445;12409270;15586390;12495297;9198310;8620937;11912546;19246900;17353188;15281007 12418966;12167657;12100313;11976341;11971983;11963573;11785295;11534018;11436564;11369750;10608891;10336608;9705307;9684876;9499402;9038134;8586411;8364553;4356849;4065897;1939112;1627603;1304913;736044;457131;16169070;1587862;17353931;19217450;18992867;18786445;18768081;18604186;18490013;18262048;17703100;17678914;17565542;17472574;17390764;17171650;16973312;16893901;16762482;16344560;16253994;16224193;16189514;16036221;15988697;15974295;15951569;15489334;15359537;15230135;14637146;12942785;12815062;12640337;12477932;12438242;20581655;19569002;19570551;19622628;19789510;20379614;20805743;10940933;19913121;20587610;20628086;18029348;20816195;19855922;20152999;23197232;23645747;21538645;22939629;22990118;21644204;21853274;22505724;22035742;22064183;21139048;21890473;21767392;21628590;22692348;21423239;21145461;21319273;22428720;19738201;22623428;22810585;22854047 52 B5MCC7;D3YTI2;F2Z2Q9;F2Z2R9;G5E9R5;P24666;Q59EH3 AB209838;ABBA01035631;AC079779;AK289934;AK291861;AMYH01010044;BC007422;BC020699;BC106011;BI460080;BJ992018;BT007136;BX481618;CH471053;DA378283;DB443811;L06508;M83653;M83654;M87545;NG_012035;NM_001040649;NM_004300;NM_007099;NR_024080;S62884;U25847;U25849;Y16846 AAB27085;AAB59354;AAB59355;AAB59628;AAC52067;AAH07422;AAI06012;AAP35800;AAY14958;ADZ15475;BAD93075;BAF82623;BAF84550;CAA76416;EAX01111;EAX01112;EAX01113;EAX01114;EAX01115;EAX01116;NP_001035739;NP_004291;NP_009030;P24666 Hs.558296 1680855;1688253;1694922;1742473;2177840;2182387;5022285 D2S2844;G44350;GDB:197514;RH1485;RH65054;RH67995;RH69188 HAAP;MGC111030;MGC3499 LMW-PTP;LMW-PTPase;OTTHUMP00000109538;OTTHUMP00000109539;OTTHUMP00000199909;OTTHUMP00000199910;OTTHUMP00000199911;OTTHUMP00000199914;OTTHUMP00000199915;acid phosphatase of erythrocyte;adipocyte acid phosphatase;cytoplasmic phosphotyrosyl protein phosphatase;low molecular weight cytosolic acid phosphatase;low molecular weight phosphotyrosine protein phosphatase;protein tyrosine phosphatase;red cell acid phosphatase 1 1643262;1643271 BW207_H;BW214_H APPROVED protein-coding ENSG00000143727 122 08881 171500 REVIEWED 10073 ACP5 acid phosphatase 5, tartrate resistant This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008] 19 19 p13.2 11546477 11549496 - 11685475 11689801 - 1300346;1580863;1300048;2315882;2315909;2315910;6480464;6907045 734913;19699734;19821772;19736603 2775236;19026169;19010793;18979172;18703035;18410226;18320034;18285546;18221403;18053985;17997709;17357281;17088078;16869970;16620768;16280328;16200454;15993892;15950921;15878315;15701839;15542543;15489334;15342556;12901871;12845688;12820342;12589973;12477932;12450668;12073156;12009023;11983200;10862785;10389595;9521821;8889548;8449511;8200916;8195113;8188227;8125298;2909539;2808373;2610679;2473026;2334436;1872798;16169070;8359686;2338077;21300043;20416078;18421493;19765782;17207965;20967488;20932965;21217752;21217755;22490295;21386798;21900206;22335021;22357739;22517558;22844067;21890473 54 K7EIP0;K7EJD9;K7ES19;K7ESF2;P13686 ABBA01029833;ABBA01029834;AC020947;AK225912;AK290717;AK307164;AMYH01009487;BC025414;BC111014;BM708166;BP367008;BX365007;CH471106;CR457078;FB775570;J04430;NG_028127;NM_001111034;NM_001111035;NM_001111036;NM_001611;X14618;X67123 AAA76849;AAH25414;AAI11015;ACE87273;ADQ32269;BAF83406;CAA32771;CAG33359;CAV30742;EAW84232;EAW84233;EAW84234;NP_001104504;NP_001104505;NP_001104506;NP_001602;P13686 Hs.1211 1681412;2125694;2160130;2190485;2218176 ACP5;ACP5__4244;G06617;G10515;RH93921 MGC117378;SPENCDI;TRAP TrATPase;acid phosphatase 5;tartrate-resistant acid ATPase;tartrate-resistant acid phosphatase type 5 APPROVED protein-coding ENSG00000102575 124 01374 171640;607944 REVIEWED 1314899 ACP6 acid phosphatase 6, lysophosphatidic 1 1 1 q21 121841363 121864830 + 145585792 145609258 - 147119168 147142634 - 1580863;6480464;6907045 10506173;17353931;16710414;15489334;15340161;15280042;14702039;12975309;12477932;12010880;9820827;16169070;17207965;20877624 51205 Q9NPH0 AB030039;AB031478;AB209248;ABBA01004401;ABBA01004402;AC241644;AK000657;AK308593;AK310693;AL359207;AL520992;AMYH01001226;AY358552;BC009965;BC011644;BC034686;CH471223;CR457101;NM_016361 AAH09965;AAH34686;AAQ88916;ADQ32397;BAA89311;BAA91310;BAA94309;BAD92485;CAG33382;CAI15199;EAW50931;NP_057445;Q9NPH0 Hs.562154 1677254;1722567;2125503 G60214;RH45458;RH93817 ACPL1;LPAP;PACPL1 OTTHUMP00000015904;acid phosphatase like 1;acid phosphatase-like protein 1;lysophosphatidic acid phosphatase type 6 protein-coding ENSG00000162836 29609 16472 611471 VALIDATED 736688 ACR acrosin Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids. [provided by RefSeq, Jul 2008] 22 22 q13.33 49523518 49530593 + 51176652 51183727 + 1580863;6480464 1937464;6802470;6815104;15950652;10418103;3880736;10369396;12398221;16344560;15955892;15461802;12931362;12801583;12477932;11839395;11739644;11076863;10734459;6357995;2606479;2550339;2493394;2298447;2114285;1907596;1783391;1628652;15782160;7521127;15950651;22990118;22452365;23297503 49 E9PLV5;P10323 ABBA01042613;AC000036;AC002056;AK310316;AMYH01012924;AMYH01012925;CH471138;CR456366;DB054152;M77378;M77379;M77380;M77381;NM_001097;X54017;X66188;Y00970 AAA51572;AAA51573;AAA51574;AAA51575;AAI11594;CAA37964;CAA46956;CAA68784;CAG30252;CAK54364;CAK54663;EAW73587;EAW73588;NP_001088;P10323 Hs.370870 1690528;1742079;2171428 GDB:190905;RH38881;RH69180 OTTHUMP00000196479;acrosin;acrosin light and heavy chain prepropeptide;preproacrosin;proacrosin APPROVED protein-coding ENSG00000100312 126 06342 102480 REVIEWED 1344974 ACRBP acrosin binding protein The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon. [provided by RefSeq, Jul 2008] 12 12 12 p13.31 8364217 8373557 - 6617503 6626841 - 6747242 6756580 - 1580863;6480464 16301813;15489334;12477932;11248070;20876808;22651134 84519 E7EP66;F5H2C2;F5H3P4;F5H5S8;Q8NEB7 AB051833;ABBA01017650;AC135892;AF085884;AK302290;AK311572;AK312782;AMYH01004205;BC033010;CH471116;NM_032489 AAH33010;ABM81798;ABM84954;BAB39388;BAG35645;BAG63630;EAW88774;NP_115878;Q8NEB7 Hs.123239 1650712;1793912;1847235 G41278;PMC30645P1;SHGC-30262 CT23;FLJ51160;OY-TES-1;SP32 OTTHUMP00000239242;OTTHUMP00000239243;acrosin-binding protein;cancer/testis antigen 23;cancer/testis antigen OY-TES-1;proacrosin binding protein sp32 APPROVED protein-coding ENSG00000111644 17195 16322 608352 REVIEWED 1346265 ACRC acidic repeat containing X X X q13.1 71150915 71185673 + 70714986 70750158 + 70797874 70833433 + 1580863;6480464 16344560;14702039;11714101;12477932 93953 Q96QF7 ABBA01067759;ABBA01067760;ABBA01067761;ABBA01067762;ABBA01067763;ABBA01067764;ABBA01067765;ABBA01067766;ABBA01067767;AJ311392;AK097433;AK127607;AL590763;AMYH01022537;BC136259;CH471132;DB073623;NM_052957 AAI36260;BAC05051;BAG54533;CAC60255;EAX05284;NP_443189;Q96QF7 Hs.135167 2218970;5022578;5022651 ACRC__4245;D11S2921;D1S1423 NAAR1 OTTHUMP00000032171;OTTHUMP00000032172;acidic repeat-containing protein;putative nuclear protein protein-coding ENSG00000147174 15805 02298 300369 VALIDATED 1351105 ACRV1 acrosomal vesicle protein 1 This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during spermatogenesis, and is associated with the acrosomal membranes and matrix of mature sperm. The acrosomal vesicle protein 1 may be involved in sperm-zona binding or penetration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010] 11 11 q24.2 125047439 125056152 - 125542229 125550793 - 1580863;6480464 1693291;15489334;12477932;11730901;8373955;8288254;8125298;7888499;7619499;2298314;1637938;21488928 56 AAB34927;AAB34928;AAB34929;AAB34930;AAB34931;AAB34933;AAB34935;AAB34936;K4DI85;P26436 AB451476;ABBA01031239;AK223335;AMYH01004108;AP001132;BC014588;BG720361;BI826178;CH471065;DB446200;H93373;HC006756;M82967;M82968;NM_001612;NM_020069;NM_020107;NM_020108;S65576;S65578;S65583;S65606 AAA36625;AAA36626;AAB28238;AAB34927;AAB34928;AAB34929;AAB34930;AAB34931;AAB34933;AAB34935;AAB34936;AAH14588;BAD97055;BAG70290;CBH19184;EAW67648;EAW67649;EAW67650;EAW67651;EAW67652;EAW67653;EAW67654;EAW67655;EAW67656;EAW67657;EAW67658;EAW67659;NP_001603;NP_064454;NP_064492;NP_064493;P26436 Hs.169222;Hs.596575 1662302;2107811;2140209;2141028;2154146 ACRV1;ACRV1_8189;RH17743;STS-H93373;WI-7841 D11S4365;SP-10;SPACA2 OTTHUMP00000231310;OTTHUMP00000231311;OTTHUMP00000231312;OTTHUMP00000231313;acrosomal protein SP-10;sperm protein 10 APPROVED protein-coding ENSG00000134940 127 00014 102525 REVIEWED 733957 ACSBG1 acyl-CoA synthetase bubblegum family member 1 The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008] 15 15 15 q23-q24 55399717 55463412 - 76250242 76313954 - 78463187 78527049 - 6480464 19240061;15800013;14702039;14516277;12975357;12477932;11112418;10954726;9734811;9110174;8619474;20691247;20379614;15464426;16371355;21832049;21900206 23205 B3KNS7;B7Z2Y6;F5H4U6;H0YM34;H0YMC3;H0YMF5;H0YMH2;H0YMZ0;H0YNX0;Q96GR2 ABBA01060579;ABBA01060580;AC090260;AC090607;AF070624;AF179481;AK054882;AK294202;AK295269;AK299597;AK314508;AMYH01006831;BC009289;BC040252;CH471136;DC401742;HB881625;HC939034;NM_001199377;NM_015162 AAG09404;AAH09289;ABM87427;ABW03887;BAG37108;BAG51439;BAH11696;BAH12022;BAH13077;CBF65091;CBU89962;EAW99180;NP_001186306;NP_055977;Q96GR2 Hs.655760 1697488;1708542;2167084;2187458 RH102246;SHGC-58142;SHGC-85050;SHGC-9319 BG;BG1;BGM;FLJ30320;GR-LACS;KIAA0631;LPD;MGC14352;hBG1;hsBG OTTHUMP00000184909;bubblegum;hsBGM;lipidosin;lipodisin;long-chain-fatty-acid--CoA ligase ACSBG1;ortholog of rodent gonadotropin-regulated long chain acyl-CoA synthetase;very long-chain acyl-CoA synthetase APPROVED protein-coding 29567 16549 614362 REVIEWED 1604279 ACSBG2 acyl-CoA synthetase bubblegum family member 2 19 19 19 p13.3 6074482 6131888 + 6086710 6144112 + 6135710 6193112 + 6480464 21145461;16762313;16371355;15685348;14702039;12975309;12477932;11230166;8125298;18029348 81616 K7EKE4;K7EL11;K7EMB4;K7ERT0;K7ESC8;K7ESF1;Q5FVE4 ABBA01055978;ABBA01055979;ABBA01055980;ABBA01055981;AC011471;AC104538;AJ577571;AK057412;AK093433;AK225862;AK302604;AL040604;AL136854;AMYH01009370;AY009107;AY358766;BC022027;BC090046;BI561348;CH471139;HC006758;NM_030924 AAG49398;AAH22027;AAH90046;AAQ89126;ABM81759;ABM84914;ACE86522;ACE87201;BAB71476;BAG52714;BAG63853;CAB66788;CAE12156;CAE12157;CBH19185;EAW69111;NP_112186;Q5FVE4 Hs.465720 1336112;1660818;1677690 D19S427;G09501;RH93117 BGR;BRGL;DKFZp434K1635;MGC111089;PRTD-NY3;PRTDNY3 BGR-like;bubblegum-related protein;long-chain-fatty-acid--CoA ligase ACSBG2 protein-coding ENSG00000130377 24174 09824 614363 VALIDATED 1604594 ACSF2 acyl-CoA synthetase family member 2 17 17 17 q21.33 44964815 45013493 + 45858518 45907199 + 48503519 48552200 + 6480464 17762044;16380219;12975309;12477932;8889548;8125298;20877624;21139048 80221 B4DFQ6;B4DHT5;B4DUF5;D6RF15;D6RF87;E7EN53;E9PF16;H0Y8N1;H0Y8Y5;Q96CM8 ABBA01041240;AC004707;AC021491;AK024573;AK225044;AK225561;AK294205;AK295258;AK300145;AK300625;AK308584;AMYH01008472;AMYH01008473;AY358660;BC012053;BC014123;CA945050;CH471109;DC384989;NM_025149 AAH12053;AAH14123;AAQ89023;BAB14930;BAG57517;BAG58247;BAG61931;BAG62317;EAW94612;NP_079425;Q96CM8 Hs.288959 1340247;1677108;1693504;2139210;2146995;2218376 CHAD_4562;D17S1869;G13356;RH18250;RH93333;SHGC-58381 ACSMW;AVYV493;FLJ20920 OTTHUMP00000221346;OTTHUMP00000221347;OTTHUMP00000221348;OTTHUMP00000221349;OTTHUMP00000221350;PPARG binding, long chain fatty acid acyl Co-A ligase like;acyl-CoA synthetase family member 2, mitochondrial protein-coding ENSG00000167107 26101 13380 610465 VALIDATED 1604214 ACSF3 acyl-CoA synthetase family member 3 This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 16 16 16 q24.3 74226564 74287794 + 87687825 87749670 + 89160217 89222171 + 6480464 17762044;18029348;16344560;16303743;14702039;12477932;20877624;21846720;21841779;22420028;21785126;21139048;21857022;23337955 197322 F5GX20;F5H2G6;F5H362;F5H3B2;F5H5A1;F5H755;H0YGC7;H0YGJ0;H0YH37;H3BTS0;Q4G176 ABBA01014163;ABBA01014164;AC009113;AC135782;AK075499;AK096561;AK290963;AMYH01007925;BC028399;BC064609;BC072391;BI837487;BM148793;BQ953430;BX325026;BX402632;CH471184;CR976321;CS051329;DA062861;HI573908;NG_031961;NM_001127214;NM_001243279;NM_174917;NR_023316;NR_045666;NR_045667 AAH28399;AAH64609;AAH72391;BAC11654;BAF83652;CAI72159;CBX47443;EAW66744;NP_001120686;NP_001230208;NP_777577;Q4G176 Hs.461727;Hs.720526 1683251;1684690 RH65209;RH79754 FLJ39242 OTTHUMP00000175346;OTTHUMP00000236558;OTTHUMP00000236559;OTTHUMP00000236605;acyl-CoA synthetase family member 3, mitochondrial;malonyl-CoA synthetase APPROVED protein-coding ENSG00000176715 27288 14117 614245;614265 REVIEWED 1315639 ACSM1 acyl-CoA synthetase medium-chain family member 1 16 16 16 p12.3 19944784 20012792 - 20542060 20610079 - 20634559 20702578 - 1580863;6480464;6907045 18632593;18347602;15361761;14702039;12654705;12477932;11470804;19913121;20628086;20679960;20185149;20877624 116285 E5RFK0;H0YAU5;O75203;Q08AH1 AB059429;AB062503;ABBA01028285;AC003034;AC020926;AC141273;AK092574;AK314282;AMYH01007344;AMYH01007345;BC125177;BC125178;CH471228;NM_052956 AAC23498;AAI25178;AAI25179;BAB64535;BAB68363;BAG36941;EAW66826;EAW66827;EAW66828;NP_443188;Q08AH1 Hs.306812 1685383;1733702 D16S773;RH65225 BUCS1;MACS1;MGC150532 Butyrate CoA ligase;OTTHUMP00000162288;OTTHUMP00000226506;acyl-coenzyme A synthetase ACSM1, mitochondrial;butyrate--CoA ligase 1;butyryl-coenzyme A synthetase 1;lipoate-activating enzyme;medium-chain acyl-CoA synthetase;middle-chain acyl-CoA synthetase 1 protein-coding ENSG00000166743 18049 12551 614357 VALIDATED 1604361 ACSL5 acyl-CoA synthetase long-chain family member 5 The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 10 10 q25.1-q25.2 114123906 114178128 + 114133916 114188138 + 2317576;6480464 17762044 22163040;19218499;18806831;18228202;17761945;17681178;17495181;16198472;15809837;15736044;15489334;15292367;15164054;14608540;12975309;12477932;12147264;11707336;11319232;11127823;8125298;8944226;20470896;16385451;20379614;20877624;22171129;21890473;21906983;23348389 51703 B4DX30;Q9ULC5 AB033899;AB033920;ABBA01063005;AJ347687;AJ496489;AK000339;AK024932;AK222782;AK223288;AK301786;AK310436;AL157786;AL708480;AM262166;AMYH01003074;AMYH01003075;AY358520;BC007985;CD689921;CF595490;CH471066;CS248458;NM_016234;NM_203379;NM_203380 AAH07985;AAQ88884;ABM84192;ABM87595;BAA85979;BAA86054;BAG63242;CAC79123;CAD43000;CAJ56749;CAK18174;EAW49532;EAW49533;EAW49534;EAW49535;EAW49536;EAW49537;EAW49538;EAW49539;NP_057318;NP_976313;NP_976314;Q9ULC5 Hs.11638 1846901;1846903;1858163;2154742;2173193;2216980 A006J06;ACSL5_3592;D10S1429;G20863;RH47726;WI-12237 ACS2;ACS5;FACL5 FACL5 for fatty acid coenzyme A ligase 5;LACS 5;OTTHUMP00000020489;OTTHUMP00000020490;fatty acid coenzyme A ligase 5;fatty-acid-Coenzyme A ligase, long-chain 5;long-chain acyl-CoA synthetase 5;long-chain fatty acid coenzyme A ligase 5;long-chain-fatty-acid--CoA ligase 5 APPROVED protein-coding ENSG00000197142 16526 16139 605677 REVIEWED 1344693 ACSL4 acyl-CoA synthetase long-chain family member 4 The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the mental retardation or Alport syndrome. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] X X q22.3-q23 108771220 108863277 - 108884564 108976621 - 1580863;2317576;6480464;7240710 17762044 9480748;9598324;18029348;19346733;18614287;18059177;17934335;16276108;15849811;15489334;15292367;15146197;15108178;12949969;12824887;12525535;12477932;11889465;11731423;10874125;9598718;1567471;8944226;10669417;19617635;20351714;21085606;21242590;21832049;22808264;22939629;15161933;19765186;21384559;14741744;18781797;21139048;21890473;21903867;21906983;22114354;21963094;21988832;23000965;19322201;22053931;22505724;22797925 2182 D6RD96;D6RDA8;D6RF95;D6RFW9;H0Y9A0;O60488;Q5JWV8 AB061711;AB061713;AB061714;ABBA01043470;ABBA01043471;ABBA01043472;ABBA01043473;ABBA01043474;ABBA01043475;ABBA01043476;ABBA01043477;ABBA01043478;ABBA01043479;ABBA01043480;ABBA01043481;AF030555;AK292070;AK294915;AK307566;AL118496;AL138968;AL590647;AMYH01022839;BC034959;BQ016115;CH471120;CN310691;DR004263;NG_008053;NM_004458;NM_022977;Y12777;Y13058 AAC17493;AAH34959;ABM81761;ABM84916;BAB86900;BAB86901;BAB88649;BAF84759;BAG58000;CAA73314;CAA73501;EAX02671;EAX02672;EAX02673;EAX02674;NP_004449;NP_075266;O60488 Hs.268785 1658096;1662078;1684918;1685592;1850672;2132133;5095076 ACSL4;AFM214ZE1;DXS6987E;DXS7039E;RH11026;RH80172;STS-N30273 ACS4;FACL4;LACS4;MRX63;MRX68 LACS 4;OTTHUMP00000023846;OTTHUMP00000216982;acyl-CoA synthetase 4;fatty-acid-Coenzyme A ligase, long-chain 4;lignoceroyl-CoA synthase;long-chain acyl-CoA synthetase 4;long-chain fatty-acid-Coenzyme A ligase 4;long-chain-fatty-acid--CoA ligase 4 APPROVED protein-coding ENSG00000068366 3571 02152 300157;300387 REVIEWED 1342971 ACSL1 acyl-CoA synthetase long-chain family member 1 The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. [provided by RefSeq, Jul 2008] 4 4 q35 185913743 185984209 - 185676749 185747215 - 70279;1625737;1625735;1625742;2317576;6480464 2341402;1543733;16788709;15811777;17762044 10548543;1531127;16054041;18660489;16834775;15489334;15292367;14702039;12477932;8889548;8584017;8399326;7948012;7490105;7429333;2973813;2007410;1607358;1599407;20176858;20877624;8944226;22990118;21139048;21890473;21906983;22797925;22829935 2180 B7Z3Z9;B7Z452;D6RER0;D6RG07;E7EPM6;H0Y9U7;H0Y9Z9;P33121 ABBA01070518;ABBA01070519;AC079257;AC084871;AK096117;AK292798;AK296550;AK296826;AK303486;AMYH01014768;AMYH01014769;BC026290;BC033479;BC050073;BG680610;BG773086;BI461964;BM982557;CH471056;D10040;DQ083028;DQ083029;HB881341;HC938750;L09229;NM_001995 AAB00959;AAH26290;AAH50073;AAZ30711;AAZ30712;BAA00931;BAC04704;BAF85487;BAG64522;BAH12385;BAH12438;CBF64949;CBU89820;EAX04662;EAX04663;EAX04664;EAX04665;NP_001986;P33121 Hs.406678 1656031;1772332;2116233;2161988;2216978;5015861;7185938 ACSL1_3367;Bdy94e02;D10S16;D4S3128;SHGC-50256;WI-20005 ACS1;FACL1;FACL2;LACS;LACS1;LACS2 LACS 1;LACS 2;OTTHUMP00000218456;OTTHUMP00000218457;OTTHUMP00000218460;OTTHUMP00000218461;OTTHUMP00000218462;OTTHUMP00000218465;acyl-CoA synthetase 1;fatty-acid-Coenzyme A ligase, long-chain 1;fatty-acid-Coenzyme A ligase, long-chain 2;lignoceroyl-CoA synthase;long-chain acyl-CoA synthetase 1;long-chain acyl-CoA synthetase 2;long-chain fatty acid-CoA ligase 2;long-chain fatty-acid-coenzyme A ligase 1;long-chain-fatty-acid--CoA ligase 1;palmitoyl-CoA ligase 1;palmitoyl-CoA ligase 2;paltimoyl-CoA ligase 1 APPROVED protein-coding ENSG00000151726 3569 01068 152425 REVIEWED 1642901 ACSM4 acyl-CoA synthetase medium-chain family member 4 12 12 12 p13.31 9032423 9056412 + 7348195 7372236 + 7456928 7480969 + 2317576;6907045;6480464 17762044 20877624 341392 P0C7M7 ABBA01012199;AC131205;AMYH01004214;NM_001080454 NP_001073923;P0C7M7 Hs.450804 OTTHUMP00000207043;acyl-coenzyme A synthetase ACSM4, mitochondrial protein-coding ENSG00000215009 32016 614360 PROVISIONAL 1604166 ACSM2B acyl-CoA synthetase medium-chain family member 2B 16 16 p12.3 20455581 20495196 - 20548080 20587695 - 2317576;6480464;6907045 17762044 16521160;15221005;15122652;12616642;11415461;10434065;8934636;8884467;20679960;19634011 348158 H3BM61;H3BNJ9;H3BP39;H3BP79;H3BQ84;H3BRR3;H3BTX9;Q68CK6 AB073604;ABBA01028283;ABBA01028284;AC141053;AC141273;AK129944;AK289416;AK309601;AMYH01007341;AMYH01007342;AY160217;BC026010;DC329427;DC362610;DC362960;DC362964;DC412825;NM_001105069;NM_182617 AAI72335;AAO17576;BAD38642;BAF82105;NP_001098539;NP_872423;Q68CK6 Hs.298252;Hs.567879 1653796;1686736;1761895 RH70323;RH93768;SHGC-145832 ACSM2;HXMA;HYST1046 OTTHUMP00000162293;acyl-coenzyme A synthetase ACSM2B, mitochondrial;butyrate--CoA ligase 2B;butyryl-coenzyme A synthetase 2B;middle-chain acyl-CoA synthetase 2B;xenobiotic/medium-chain fatty acid-CoA ligase HXM-A;xenobiotic/medium-chain fatty acid:CoA ligase protein-coding ENSG00000066813 30931 17124 614359 VALIDATED 1606171 ACSM2A acyl-CoA synthetase medium-chain family member 2A 16 16 16 p12.3 19617914 19631073 + 20370360 20406492 + 20462859 20498991 + 2317576;6480464;6907045 17762044 19345228;16344560;14702039;12477932;10493829;20877624;16521160;19634011 123876 B3KP75;E7EPS5;F5GWL3;F5H4B8;I3L2Y5;I3L339;I3L438;Q08AH3 ABBA01028283;AC003034;AC137056;AI340924;AK055867;AK091878;AK091978;AK096039;AK096132;AK298359;AK298434;AK303774;AMYH01007332;BC125175;BC125176;DA034571;DC362857;NM_001010845 AAC23497;AAI25177;BAC03784;BAG51587;BAG53201;BAG60655;BAH12766;BAH14046;NP_001010845;Q08AH3 Hs.298252;Hs.656497 1653796;1686736;1761895;2144150;5109281 D1S1425;RH70323;RH93768;SHGC-145832;SHGC-61386 A-923A4.1;ACSM2;FLJ34659;MGC150530 Homolog of rat kidney-specific (KS);acyl-coenzyme A synthetase ACSM2A, mitochondrial;butyrate--CoA ligase 2A;butyryl-coenzyme A synthetase 2A;middle-chain acyl-CoA synthetase 2A protein-coding ENSG00000183747 32017 17292 614358 VALIDATED 1349836 ACSL6 acyl-CoA synthetase long-chain family member 6 The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011] 5 5 q31 131317051 131375248 - 131285666 131347761 - 1599805;1599808;1580863;2315920;2317576;6480464 10502316;16428347;14622223;17762044 10548543;18804346;18718982;18555221;17567994;17030554;16834775;16827919;16806233;16572202;15292367;14702039;12477932;10048485;16344560;8944226;12767919;19064571;20379614;20429931;22205969;22412388;23128233 23305 B2RB13;B4DFW3;C9J3Z0;C9J4I1;C9J8C7;C9JK59;C9JPA5;C9JT10;E7ERD7;G3V1S9;Q9UKU0 AB020644;ABBA01068815;AC034228;AF099740;AF102845;AF129166;AK122702;AK294291;AK314452;AMYH01015612;AW952652;BC026161;BC047453;BI464352;BI545119;BI548729;BM992189;CH471062;DA200154;DA801862;DB461818;DQ083030;DQ083031;DQ655980;NG_028290;NM_001009185;NM_001205247;NM_001205248;NM_001205250;NM_001205251;NM_015256 AAD47199;AAH26161;AAH47453;AAZ30713;AAZ30714;ADZ15639;BAA74860;BAG37060;BAG53676;BAG57574;EAW62355;EAW62356;EAW62357;EAW62358;EAW62359;EAW62360;NP_001009185;NP_001192176;NP_001192177;NP_001192179;NP_001192180;NP_056071;Q9UKU0 Hs.14945 1643716;1761251;1770345;1798534;1799304;1800138;1800396;1800840;1801232;1801812;1801856;1801958;1802228;1803308;1803812;1804116;1805314;1806112;1806680;1806682;1807004;1807202;1807600;1808008;1808434;1808494;1808644;1809132;1809474;1809546;1810322;1810912;1811304;1812284;1812854;1812984;1813068;1813290;1813524;1813948;1814414;1816182;1816526;1816682;1817724;1818144;1818482;1819230;1819970;1820038;1820834;1821380;1821382;1821634;1822082;1822580;1825112;1825502;1825726;1826860;1827118;1827292;1828650;1829602;1830936;1831368;1834146;1834438;1834966;1836084;1838192;1840142;1841312;1842776;1994622;1994624;1994626;1994628;1994630;1994632;1994634;1994636;1994638;1994640;1994642;1994644;1994646;1994648;1994650;1994652;1994654;1994656;1994658;1994660;1994662;1994664;1994666;1994668;1994670;1994672;1994674;1994676;1994678;1994680;1994682;1994684;1994686;1994688;1994690;1994692;1994694;1994696;1994698;1994700;1994702;1994704;1994706;1994708;1994710;1994712;1994714;1994716;1994718;1994720;1994722;1994724;1994726;1994728;1994730;1994732;1994734;1994736;1994738;1994740;1994742;1994744;1994746;1994748;1994750;1994752;1994754;1994756;1994758;1994760;1994762;1994764;1994766;1994768;1994770;1994772;1994774;1994776;1994778;1994780;1994782;1994784;1994786;1994788;1994790;1994792;1994794;1994796;1994798;1994800;1994802;1994804;1994806;1994808;1994810;1994812;1994814;1994816;1994818;1994820;1994822;1994824;1994826;1994828;1994830;1994832;1994834;1994836;1994838;1994840;1994842;1994844;1994846;1994848;1994850;1994852;1994854;1994856;1994858;1994860;1994862;1994864;1994866;1994868;1994870;1994872;1994874;1994876;1994878;1994880;1994882;1994884;1994886;1994888;1994890;1994892;1994894;1994896;1994898;1994900;1994902;1994904;1994906;1994908;1994910;1994912;1994914;1994916;1994918;1994920;1994922;1994924;1994926;1994928;1994930;1994932;1994934;1994936;1994938;1994940;1994942;1994944;1994946;1994948;1994950;1994952;1994954;1994956;1994958;1994960;1994962;1994964;1994966;1994968;1994970;1994972;1994974;1994976;1994978;1994980;1994982;1994984;1994986;1994988;1994990;1994992;1994994;1994996;1994998;1995000;1995002;1995004;1995006;1995008;1995010;1995012;1995014;1995016;1995018;1995020;1995022;1995024;1995026;1995028;1995030;1995032;1995034;1995036;1995038;1995040;1995042;1995044;1995046;1995048;1995050;1995052;1995054;1995056;1995058;1995060;1995062;1995064;1995066;1995068;1995070;1995072;1995074;1995076;1995078;1995080;1995082;1995084;1995086;1995088;1995090;1995092;1995094;1995096;1995098;1995100;1995102;1995104;1995106;1995108;1995110;1995112;1995114;1995116;1995118;1995120;1995122;1995124;1995126;1995128;1995130;1995132;1995134;1995136;1995138;1995140;1995142;1995144;1995146;1995148;1995150;1995152;1995154;1995156;1995158;1995160;1995162;1995164;1995166;1995168;1995170;2095424;2095426;2095428;2095430;2095432;2095434;2095436;2095438;2095440;2095442;2095444;2095446;2095448;2095450;2095452;2095454;2095456;2095458;2095460;2095462;2095464;2095466;2095468;2095470;2095472;2095474;2095476;2095478;2095480;2095482;2095484;2095486;2095488;2095490;2095492;2095494;2095496;2095498;2095500;2095502;2095504;2095506;2095508;2095510;2095512;2095514;2155572;2168917;2169489;2216982;5022200 A006Y44;ACSL6_3557;ECD00105;ECD00500;ECD00925;ECD01058;ECD01283;ECD01488;ECD01787;ECD01809;ECD01860;ECD01997;ECD02550;ECD02815;ECD02976;ECD03604;ECD04010;ECD04297;ECD04298;ECD04467;ECD04567;ECD04772;ECD04982;ECD05198;ECD05229;ECD05304;ECD05555;ECD05729;ECD05765;ECD06153;ECD06454;ECD06650;ECD07149;ECD07440;ECD07506;ECD07553;ECD07665;ECD07783;ECD08001;ECD08236;ECD09131;ECD09305;ECD09384;ECD09915;ECD10128;ECD10302;ECD10682;ECD11056;ECD11091;ECD11493;ECD11774;ECD11775;ECD11903;ECD12127;ECD12378;ECD13657;ECD13859;ECD13971;ECD14545;ECD14674;ECD14761;ECD15452;ECD15932;ECD16604;ECD16820;ECD18221;ECD18367;ECD18634;ECD19203;ECD20268;ECD21255;ECD21852;ECD22595;HSC2DF112;L18426;REN68219;REN68220;REN68221;REN68222;REN68223;REN68224;REN68225;REN68226;REN68227;REN68228;REN68229;REN68230;REN68231;REN68232;REN68233;REN68234;REN68235;REN68236;REN68237;REN68238;REN68239;REN68240;REN68241;REN68242;REN68243;REN68244;REN68245;REN68246;REN68247;REN68248;REN68249;REN68250;REN68251;REN68252;REN68253;REN68254;REN68255;REN68256;REN68257;REN68258;REN68259;REN68260;REN68261;REN68262;REN68263;REN68264;REN68265;REN68266;REN68267;REN68268;REN68269;REN68270;REN68271;REN68272;REN68273;REN68274;REN68275;REN68276;REN68277;REN68278;REN68279;REN68280;REN68281;REN68282;REN68283;REN68284;REN68285;REN68286;REN68287;REN68288;REN68289;REN68290;REN68291;REN68292;REN68293;REN68294;REN68295;REN68296;REN68297;REN68298;REN68299;REN68300;REN68301;REN68302;REN68303;REN68304;REN68305;REN68306;REN68307;REN68308;REN68309;REN68310;REN68311;REN68312;REN68313;REN68314;REN68315;REN68316;REN68317;REN68318;REN68319;REN68320;REN68321;REN68322;REN68323;REN68324;REN68325;REN68326;REN68327;REN68328;REN68329;REN68330;REN68331;REN68332;REN68333;REN68334;REN68335;REN68336;REN68337;REN68338;REN68339;REN68340;REN68341;REN68342;REN68343;REN68344;REN68345;REN68346;REN68347;REN68348;REN68349;REN68350;REN68351;REN68352;REN68353;REN68354;REN68355;REN68356;REN68357;REN68358;REN68359;REN68360;REN68361;REN68362;REN68363;REN68364;REN68365;REN68366;REN68367;REN68368;REN68369;REN68370;REN68371;REN68372;REN68373;REN68374;REN68375;REN68376;REN68377;REN68378;REN68379;REN68380;REN68381;REN68382;REN68383;REN68384;REN68385;REN68386;REN68387;REN68388;REN68389;REN68390;REN68391;REN68392;REN68393;REN68394;REN68395;REN68396;REN68397;REN68398;REN68399;REN68400;REN68401;REN68402;REN68403;REN68404;REN68405;REN68406;REN68407;REN68408;REN68409;REN68410;REN68411;REN68412;REN68413;REN68414;REN68415;REN68416;REN68417;REN68418;REN68419;REN68420;REN68421;REN68422;REN68423;REN68424;REN68425;REN68426;REN68427;REN68428;REN68429;REN68430;REN68431;REN68432;REN68433;REN68434;REN68435;REN68436;REN68437;REN68438;REN68439;REN68440;REN68441;REN68442;REN68443;REN68444;REN68445;REN68446;REN68447;REN68448;REN68449;REN68450;REN68451;REN68452;REN68453;REN68454;REN68455;REN68456;REN68457;REN68458;REN68459;REN68460;REN68461;REN68462;REN68463;REN68464;REN68465;REN68466;REN68467;REN68468;REN68469;REN68470;REN68471;REN68472;REN68473;REN68474;REN68475;REN68476;REN68477;REN68478;REN68479;REN68480;REN68481;REN68482;REN68483;REN68484;REN68485;REN68486;REN68487;REN68488;REN68489;REN68490;REN68491;REN68492;REN68493;RH66391;SGC31129;SGC32042;SHGC-145256;stSG600946;stSG600947;stSG600948;stSG600949;stSG600950;stSG600951;stSG600952;stSG600953;stSG600955;stSG600956;stSG600957;stSG600958;stSG600960;stSG600961;stSG600962;stSG600963;stSG600965;stSG600966;stSG600967;stSG600968;stSG600969;stSG600970;stSG600971;stSG600972;stSG600973;stSG600974;stSG600975;stSG600976;stSG600977;stSG600978;stSG600979;stSG600980;stSG600981;stSG600982;stSG600983;stSG600984;stSG600985;stSG600986;stSG600987;stSG600988;stSG600989;stSG600990;stSG600991;stSG600992;stSG600993;stSG600994 ACS2;FACL6;FLJ16173;KIAA0837;LACS 6;LACS2;LACS5 OTTHUMP00000065952;OTTHUMP00000065953;OTTHUMP00000065954;OTTHUMP00000065955;OTTHUMP00000065957;OTTHUMP00000065958;OTTHUMP00000198259;OTTHUMP00000198261;fatty-acid-Coenzyme A ligase, long-chain 6;long fatty acyl-CoA synthetase 2;long-chain acyl-CoA synthetase 6;long-chain-fatty-acid--CoA ligase 6 APPROVED protein-coding ENSG00000164398 16496 09190 604443 REVIEWED 1602231 ACSL3 acyl-CoA synthetase long-chain family member 3 The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 q34-q35 223433976 223516363 + 223725732 223808119 + 2317576;6480464 17762044 8663269;17220478;19221603;18003621;17901542;17761945;16354793;15556626;15489334;15302935;15292367;14702039;12477932;11707336;9177793;8889548;7987323;6240978;1848073;1433226;20605918;20308079;20219900;22357706;22586326;17379924;8944226;21328461;21832049;22939629;14741744;21252943;19765186;21139048;21890473;21903422;21906983;21987572;22190034;22505724;22797925 2181 B3KMA6;C9JC11;F5GWH2;F5H062;H7BYZ7;H7C260;O95573 AB061436;AB061712;ABBA01023805;ABBA01023806;ABBA01023807;ABBA01023808;AC013476;AC016712;AF116690;AI378485;AK001471;AK023191;AK314621;AMYH01011522;AMYH01011523;BC012066;BC032144;BC041692;BF679686;BG772246;BM971377;BQ435549;BX472576;CH471063;D89053;HB881571;HC938980;N44998;NM_004457;NM_203372 AAF71110;AAH32144;AAH41692;BAA37142;BAB72074;BAB72139;BAG37187;BAG50918;BAG51167;CBF65064;CBU89935;EAW70807;EAW70808;EAW70809;NP_004448;NP_976251;O95573 Hs.655772 1341355;1688010;1689907;1772934;2109025;2118795;2136366;2136399;2144639;2144811;2162935;7186162 A008B44;ACSL3_3368;D2S130;RH35858;RH65698;RH69969;RH80004;RH92846;SHGC-36164;STS-N59230;WI-21901 ACS3;FACL3;PRO2194 LACS 3;OTTHUMP00000164212;OTTHUMP00000203810;fatty-acid-Coenzyme A ligase, long-chain 3;lignoceroyl-CoA synthase;long-chain acyl-CoA synthetase 3;long-chain-fatty-acid--CoA ligase 3 APPROVED protein-coding 3570 03845 602371 REVIEWED 1603027 ACSM5 acyl-CoA synthetase medium-chain family member 5 16 16 16 p12.3 19570305 19620803 + 20328357 20359791 + 20420856 20452290 + 6480464;6907045 17762044;12477932;11752456;20383146;20877624 54988 I3L536;Q6NUN0 ABBA01028280;ABBA01028281;AC137056;AK000588;AMYH01007329;AV648626;AV653851;AV696798;BC013753;BC016703;BC068516;BX505437;CH471186;NM_017888 AAH13753;AAH16703;AAH68516;BAA91273;EAW50317;EAW50318;EAW50319;NP_060358;Q6NUN0 Hs.659606 1847885;2153716 SHGC-56399;SHGC-6042 FLJ20581 OTTHUMP00000162289;acyl-coenzyme A synthetase ACSM5, mitochondrial protein-coding ENSG00000183549 26060 08627 614361 VALIDATED 735798 ACSM3 acyl-CoA synthetase medium-chain family member 3 16 16 p13.11 20682813 20715980 + 20775312 20808479 + 1579978;1601004;634023;2317576;6480464;6907045;7241281;7241282;7241283 11592044;17102796;8507454;17762044;21987487;14567496;12484505 7907320;19262474;19108963;18660489;18519841;18192838;17278971;17070428;15361761;12477932;12046348;11772874;11470804;11158418;10493829;8135833;8125298;7843754;19913121;20628086;20679960;19578796;20084102;20379614;20877624;16341674 6296 E7ETR5;H3BR33;H3BSM0;H3BT38;H3BTG0;H3BUF2;H3BV29;H3BVD5;Q53FZ2 ABBA01028286;AC004381;AK223139;AK290322;AK296122;AMYH01007345;BC002790;BI770558;BI826935;BM828310;BU170035;CA425752;CH471228;D16350;NM_005622;NM_202000;X80062 AAC31667;AAH02790;ABM83905;ABM87226;ABW03856;BAA03853;BAD96859;BAF83011;BAG58869;CAA56369;EAW66834;EAW66835;NP_005613;NP_973729;Q53FZ2 Hs.706754 1651177;1669992;1743819;1761229 GDB:374124;SHGC-145237;SHGC-60682;SHGC-60770 SA;SAH OTTHUMP00000162290;SA (rat hypertension-associated) homolog;SA hypertension-associated homolog;acyl-coenzyme A synthetase ACSM3, mitochondrial;butyrate--CoA ligase 3;butyryl-coenzyme A synthetase 3;middle-chain acyl-CoA synthetase 3;protein SA homolog;sa rat hypertension-associated homolog 2315775 GLUCO145_H protein-coding ENSG00000005187 10522 07033 145505 VALIDATED 1603012 ACSS3 acyl-CoA synthetase short-chain family member 3 12 12 12 q21.31 81138032 81316367 + 79995940 80173713 + 81471809 81649582 + 6480464;6907045 17762044;12477932;20379614 79611 F8VZB4;H0YII9;Q9H6R3 ABBA01053486;ABBA01053487;ABBA01053488;ABBA01053489;AC078920;AC078955;AC134506;AK025616;AK074267;AK074938;AMYH01004614;AMYH01004615;AX764480;AX764482;BC009317;BC015769;CH471054;HC890635;HC895167;NM_024560 AAH09317;AAH15769;BAB15190;BAC11304;CAE00104;CAE00105;CBN59805;CBN62022;EAW97372;EAW97373;NP_078836;Q9H6R3 Hs.259559 1698720;1749769;1777800;1788960;2120388 G65555;RH102920;RH1603;RH46043;SHGC-111519 FLJ21963 AMP-binding enzyme, 33217;OTTHUMP00000243129;OTTHUMP00000243130;OTTHUMP00000243131;acyl-CoA synthetase short-chain family member 3, mitochondrial protein-coding ENSG00000111058 24723 13385 614356 VALIDATED 1349890 ACTBP1 actin, beta pseudogene 1 X p11.3 46147449 46148563 - 3837182 61;643309 ABBA01052189;AL034402;AMYH01022248;NG_022596 pseudo 134 INFERRED 1353115 ACTBP10 actin, beta pseudogene 10 14 q11.2 19987119 19988846 - 446207 AL589182;NG_032756 pseudo 31819 INFERRED 1314754 ACSS1 acyl-CoA synthetase short-chain family member 1 This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 20 20 20 p11.23-p11.21 25060679 25113427 - 24934873 24987616 - 24986866 25038818 - 1580863;2317576;6480464;6907045 17762044 11214971;15489334;14702039;12477932;11780052;11347906;11150295;20877624;16788062;19535340;19724895;19851296;20198315;20379614;19617323;20125193 84532 Q1RMZ4;Q5TF43;Q6ZV30;Q8N234 AB058749;ABBA01048732;AK024396;AK024424;AK027817;AK090851;AK092295;AK094414;AK125058;AK125923;AK127566;AK296306;AK314440;AL035661;AL080312;AL832939;AL833041;AMYH01011788;AW024920;BC032076;BC039261;BC044588;BC055008;BC114612;BM150326;CH471133;DC404033;NM_001252675;NM_001252676;NM_001252677;NM_032501 AAH39261;AAH44588;AAH55008;AAI14613;BAB15714;BAB47475;BAB55390;BAC03530;BAC03853;BAC86035;BAG54524;BAG59005;CAH56303;CAH56320;EAX10106;EAX10107;EAX10108;EAX10109;EAX10110;EAX10111;NP_001239604;NP_001239605;NP_001239606;NP_115890;Q9NUB1 Hs.529353 1662476;1672854;1694714;1777019;5037552 AL030974;D20S1043;D8S2279;G43548;WI-11267 ACAS2L;ACECS1;AceCS2L;FLJ45659;MGC33843 OTTHUMP00000030470;acetate--CoA ligase 2;acetyl-coenzyme A synthetase 2-like, mitochondrial APPROVED protein-coding ENSG00000154930 16091 12413 614355 REVIEWED 2293113 ACTBP11 actin, beta pseudogene 11 1 1 1 q41 197207139 197208548 - 222118051 222119176 - 224051228 224052637 - 644220 ABBA01008153;AC096542;AMYH01001762;NG_007577 1793664;1794978;1794984 PMC24644P5;PMC86650P1;PMC86716P1 pseudo 33971 INFERRED 1347270 ACTBP12 actin, beta pseudogene 12 1 1 p21 90940994 90941434 - 92694573 92695013 - 1692956;1692956 100462767 ABBA01045550;AL451010;AMYH01000796;NG_026958 ACTGP5 APPROVED pseudo 150 INFERRED 7240981 ACTBP14 actin, beta pseudogene 14 10 q22.1 70782534 70783622 + 389976 ABBA01019597;AL359844;AMYH01002806;NG_022182 pseudo 45086 INFERRED 7176820 ACTBP13 actin, beta pseudogene 13 3 p21.31 49910778 49914739 - 389120 ABBA01024571;AC105935;AMYH01013163;NG_028183 pseudo 44626 INFERRED 1344030 ACTBP2 actin, beta pseudogene 2 5 5 5 q14.1 72974637 72976430 + 77116298 77118277 + 77080627 77082421 + 6571702;3837182;23650840 62 ABBA01061984;AC035147;AMYH01015428;NG_003019 1728921;1793046;1793732;1794552;1794984;2190487 ACTB-L;Actb-rs1;PMC193670P1;PMC26753P1;PMC317352P1;PMC86716P1 pseudo 135 INFERRED 1353051 ACTBP3 actin, beta pseudogene 3 18 q21.33 57360278 57360705 - 3837182 63 ABBA01056169;AC010776;AMYH01009040;NG_032175 pseudo 136 INFERRED 1603843 ACTBL2 actin, beta-like 2 5 5 5 q11.2 53730699 53733492 - 56811600 56814393 - 56775843 56778636 - 6480464 16824795;12477932;21145461;22562506;22863883;19156129;20086096;22266860;21110914;22178446;19471022;21139048;21693764;21906983;22219177;20473970;21628590;17203973;20876399;22505724 345651 Q562R1 ABBA01015777;AC025470;AMYH01015100;AY970384;AY970433;AY970451;AY970452;BC137470;BC137473;BX648504;CH471123;NM_001017992 AAI37471;AAI37474;AAX82193;AAX82242;AAX82259;AAX82260;EAW54967;NP_001017992;Q562R1 Hs.482167 5023529 PMC305873P2 ACT;DKFZp686D0972 OTTHUMP00000221904;actin-like protein;beta-actin-like protein 2;kappa-actin;similar to riken cdna 4732495g21 gene protein-coding ENSG00000169067 17780 18598 614835 VALIDATED 1313544 ACSS2 acyl-CoA synthetase short-chain family member 2 This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] 20 20 20 q11.22 30211860 30264862 + 32926406 32979423 + 33462766 33515769 + 1580863;2317576;6480464;6907045 17762044 10843999;15231747;18029348;18660489;16788062;16344560;15489334;14702039;12477932;11780052;19913121;20628086;19617323;20416077;20353815;21890473;21906983 55902 B4DEH9;C9IYL0;C9J7L5;C9JXD9;C9JY31;E7EWU3;F8WBQ7;F8WC73;F8WCJ4;F8WDJ9;Q4G0E8;Q6DKJ3;Q96FY7;Q9NR19 ABBA01019175;AF263614;AI674262;AK000162;AK000188;AK022608;AK025990;AK092281;AK098026;AK293634;AL049709;AL133324;AL359946;AMYH01011867;BC010141;BC012172;BC073846;BC098422;CH471077;CR749716;DA411343;DA626707;DA628275;DA630609;NG_011520;NM_001076552;NM_001242393;NM_018677 AAF75064;AAH10141;AAH12172;AAH73846;AAH98422;BAB14127;BAC03849;BAG53564;BAG57090;CAH18485;EAW76242;EAW76243;EAW76244;EAW76245;EAW76246;EAW76247;EAW76248;NP_001070020;NP_001229322;NP_061147;Q9NR19 Hs.517034 1340980;2128026;2218174;7185359 ACAS2__4238;D20S106;D20S532E ACAS2;ACECS;ACS;ACSA;DKFZp762G026;dJ1161H23.1 OTTHUMP00000030713;OTTHUMP00000030717;acetate thiokinase;acetate--CoA ligase;acetate-CoA ligase;acetyl-coenzyme A synthetase, cytoplasmic;acyl-activating enzyme;cytoplasmic acetyl-coenzyme A synthetase APPROVED protein-coding ENSG00000131069 15814 605832 REVIEWED 1350369 ACTBP4 actin, beta pseudogene 4 5 5 5 q31.1 127124422 127126184 - 131021936 131023877 - 130994133 130995892 - 3837182 64 ABBA01068821;AC008695;AMYH01015612;NG_003020 pseudo 137 INFERRED 1345201 ACTBP6 actin, beta pseudogene 6 8 8 q21.2 81865138 81866904 + 85860744 85862510 + 66 ABBA01004019;AC091175;AMYH01018833;M55014;NG_008793 H8-PSI-BETA-AC3 pseudo 139 INFERRED 1348315 ACTBP5 actin, beta pseudogene 5 65 138 737580 ACTA1 actin, alpha 1, skeletal muscle The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008] 1 1 q42.13 227633615 227636466 - 229566992 229569843 - 1298659;1598720;1300347;1300247;1559154;6480464;7240710 10072583;16452123;734918;704397;12921789 20716950;12857853;12721663;12714565;12665555;12571245;12534372;12480535;12477932;12475945;12466270;12417594;12388543;12383268;12210873;12163017;12127568;12119014;12048248;12044158;12033495;12006649;11969288;11950878;11889126;11877456;11850458;11839310;11821948;11812134;11795944;11707283;11702052;11701614;11583571;11580270;11536049;11524436;11481347;11468283;11461920;11438522;10508519;12849983;11333380;15198992;19389844;19383239;19150851;19002257;18976909;18461503;18063690;17387733;16945536;16916647;16427282;15679046;15520409;15507486;15489334;15468086;15454575;15336687;15236405;15152255;15107502;15072110;14702039;14684598;14668487;14640694;14576350;14506234;11429692;11415434;11309382;11259305;11171322;11166164;11106625;11090452;11071908;11053353;11027608;11018051;10984435;10958653;10882740;10793131;10666339;10628374;10601340;10583954;10581178;10575001;10564664;10559237;10438535;10366597;10224093;9852149;9832551;9792688;9724539;9668039;9645951;9512503;9490638;9417078;9298982;9251807;9214391;9199170;8999969;8612804;8567732;8422497;8413665;8258301;7908614;7908020;7820861;7816144;7780165;7703225;7680654;7503723;6893424;6865942;6190133;3842206;3793760;2936753;2907503;2455687;2395459;2161834;1808202;1544421;1383230;1074709;648524;10556093;16526095;9841925;1540415;8997639;1991513;1907279;14694110;11297527;11441066;12438125;12417592;8416954;9153421;17010111;10806479;15149849;11897493;10320340;12062430;12577067;12695497;14507647;15059972;14594945;14592989;14634002;10491393;11691822;12384700;14688263;9695962;12438242;15494313;12554937;17620599;21912905;20332100;21145461;21319273;21764995;20169155;20630939;1423520;17082770;19233165;19562689;19634497;19635823;19819966;19934221;19948975;20100475;20201926;20378355;20388088;7642559;11102443;11687588;15772115;16751776;20452215;16568092;20809254;20179953;16501887;20686692;20718862;20826790;21108927;21385873;21079800;22863883;14532270;18662664;19553474;17573780;21464227;21340023;21723825;14966270;21151833;21203488;16051665;21931536;17360745;17411366;17504171;18443296;18775311;19380743;19454010;19639585;19710135;19883584;20147394;21199870;21606541;21917091;21923909;22004035;22017400;22028271;22362758;22465675;22505724;22535526;22537596;22989508;8395021;20301436;21691712;21975552;18781797;21514153;21987572;22031939;17203973;17194691;21139048;21906983;21994736;22209233;23176180;20305087;22081313;14690596;16009940;17361185;21824169;20301465;23420843;15558034;16461343;17194709;17266347;19805454;20639865;20972266;21080425;21890473;21963094;22053931;23000965;23071671;23246001;14676314;23174700;23656990;8399167;20391533;23042265;23106098;23190606 58 A6NL76;P68133;Q5T8M7;Q5T8M8 ABBA01009822;AF182035;AK096902;AK300697;AL160004;AL598491;AMYH01001809;AMYH01001810;AY280960;BC012597;BX648545;CH471098;CR536516;CR541796;J00068;M20543;NG_006672;NM_001100 AAA60296;AAB59376;AAF02694;AAH12597;AAP37280;ABM83875;ABM87196;BAG53395;BAH13327;CAG38754;CAG46595;EAW69898;NP_001091;P68133 Hs.1288 1667201;2106947;2113634;5019357;5023519 ACTA1_3134.2;PMC110143P1;PMC23952P1;RH36158;UniSTS:478947 ACTA;ASMA;CFTD;CFTD1;CFTDM;MPFD;NEM1;NEM2;NEM3 OTTHUMP00000036123;OTTHUMP00000037464;OTTHUMP00000037465;actin alpha 1;actin, alpha skeletal muscle;alpha skeletal muscle actin;alpha-actin-1;nemaline myopathy type 3 APPROVED protein-coding ENSG00000143632 129 00030 102610;161800;255310 REVIEWED 1348351 ACTA2 actin, alpha 2, smooth muscle, aorta The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008] 10 10 q23.3 90684811 90702491 - 90694831 90751147 - 1298662;6480464;6484113;7240710 2398629 22395512;22543453;21496259;19285011;19261809;17994018;17786474;17626241;16289162;16115228;16051665;15862967;15588509;15555551;15489334;15342556;15164054;12477932;12119014;11812134;11707283;11580270;11037796;10628374;10341211;9546431;9512352;8138584;7780165;6725286;6330528;3842206;2701935;2612915;2295650;2022339;1969628;1939373;1555776;10556093;16526095;9841925;1540415;8997639;1991513;1907279;14694110;14530271;20694011;14627618;15032605;16385451;16548883;16573163;19409525;19639654;19654303;19683985;19745835;19788615;20128380;20237496;20381122;20689142;20734336;22460095;19913121;20628086;21248741;12355421;22939629;21288906;21212136;21233699;20132408;21477997;21530503;21612641;21617610;21131735;12777385;21553326;20618440;17360745;17411366;17504171;18443296;18775311;19639585;19883584;20147394;20876399;21917091;21923909;22004035;22465675;22479424;22505724;22535526;22989508;17464107;19531499;21343850;23020218;23068445;21906983;21963094;18781797;20639865;20970362;21815248;21937873;22232431;18468998;20628268;21628590;22001912;22133903;20301299;21996542;22138123;21145461;22831780;15618548;20972266;21139048;21890473;21987572;22053931;22810585;23000965;23246001;22946110;22960022;22790431 59 D2JYH4;F6QUT6;F6UVQ4;P62736 ABBA01021950;ABBA01021951;AK300664;AK313294;AL157394;AMYH01002933;AMYH01002934;AY692464;BC017554;BC093052;BP379410;BQ029841;CH471066;CR536518;D00618;DC304647;DC354672;DC385559;GU143396;J05192;K01741;K01742;K01743;K01744;K01745;K01746;K01747;M33216;NG_011541;NM_001141945;NM_001613;X13839 AAA51577;AAA51586;AAA60560;AAH17554;AAH93052;AAW29811;ABM83317;ABM86532;ACZ58370;BAA00492;BAG36101;BAG62350;CAA32064;CAG38756;EAW50153;EAW50154;EAW50155;NP_001135417;NP_001604;P62736 Hs.500483 1742219;1761389;1778885;1789048;1797064;2120953;2154281;2160554;2166095;5023519 ACTA2_(5);D10S2177;G65659;GDB:193855;PMC23952P1;RH44176;RH45184;SHGC-145404;SHGC-30457;SHGC-30908 AAT6;ACTSA;MYMY5 OTTHUMP00000020042;actin, aortic smooth muscle;alpha 2 actin;alpha-actin-2;alpha-cardiac actin;cell growth-inhibiting gene 46 protein;growth-inhibiting gene 46 APPROVED protein-coding ENSG00000107796 130 00031 102620;611788;613834;614042 REVIEWED 1351732 ACTBP7 actin, beta pseudogene 7 15 15 15 q15.3 21170156 21171943 - 42068454 42069774 - 44280676 44282463 - 1298666 6296793 6571702 67 ABBA01039218;AC090516;AMYH01006607;NG_002724;V00479 pseudo 140 INFERRED 1346494 ACTBP9 actin, beta pseudogene 9 18 18 q21.33 56828402 56830193 + 60109157 60110948 + 1298670 8941379 69 ABBA01056193;AC100843;AMYH01009048;D50604;NG_003162 pseudo 142 INFERRED 1348995 ACTBP8 actin, beta pseudogene 8 6 6 6 q15 89403116 89404729 - 89042098 89043958 - 88985179 88986792 - 1298666 6296793 9345905;6571702;1561114;20339536 68 ABBA01040517;AL139042;AMYH01016498;NG_000840;V00481 1741823;1741853 GDB:185264;GDB:185752 ACTBP2 pseudo 141 INFERRED 7174869 ACTG1P12 actin, gamma 1 pseudogene 12 3 12111725 12112860 + 100418921 ABBA01025208;AC026166;AMYH01012982;NG_025675 pseudo 44496 INFERRED 1349704 ACTG1P10 actin, gamma 1 pseudogene 10 X X X p11.22 57001421 57002329 - 53188800 53189908 - 53170870 53173166 - 6592095 83 ABBA01056377;AL139396;AMYH01022420;NG_003039 1791616;2218708 PMC117352P1;RI01350 ACTGP10;ACTL1;ACTP1 APPROVED pseudo 155 INFERRED 1345992 ACTG1P1 actin, gamma 1 pseudogene 1 3 3 3 q23 137635491 137637432 + 140695273 140697223 + 139212582 139214524 + 8941379 73 ABBA01059063;AC097103;AMYH01013538;D50658;M55082;NG_001068 ACT1GP1;ACTGP1;HY-psi-gamma-AC6 APPROVED pseudo 146 INFERRED 3207729 ACTG1P11 actin, gamma 1 pseudogene 11 Y Y q11.221 18769084 18770992 + 20309696 20311604 + 9847074 414754 AC024183;NG_004636 2188611 G66357 pseudo 37651 VALIDATED 1342717 ACTG1P2 actin, gamma 1 pseudogene 2 Y Y q11 18377471 18379572 - 19868077 19870178 - 12815422;9847074 74 ABBA01007791;AC007742;NG_004636 2188611 G66357 ACTGP2;ACTL2 APPROVED pseudo 147 VALIDATED 1342857 ACTG1P9 actin, gamma 1 pseudogene 9 6 6 6 p12.3 47725200 47726849 + 46280607 46282257 + 46172649 46174298 + 8941379 82 ABBA01050622;AL035701;AMYH01016326;D50659;NG_001069 ACTGP9 APPROVED pseudo 154 INFERRED 1344031 ACTGP6 actin, gamma pseudogene 6 1692956 78 151 1351647 ACTG1P3 actin, gamma 1 pseudogene 3 20 20 20 p13 1237490 1238977 + 1089128 1090441 + 1141154 1142641 + 1298670 8941379 10978293;3748813 75 ABBA01053766;AF196978;AF196979;AL031665;AMYH01011662;D50657;NG_000842;X04224 ACTGP3;dJ545L17.4 APPROVED pseudo 148 INFERRED 1354054 ACTGP7 actin, gamma pseudogene 7 1692956 79 152 1351015 ACTGP8 actin, gamma pseudogene 8 1692956 80 153 1349352 ACTG1P4 actin, gamma 1 pseudogene 4 1 p21.1 104112026 104114013 + 1692956;1692956;2458567 648740;76 Q6YL44 ABBA01045412;AC105272;AMYH01000842;AY129015;NR_024438 AAM98758 Hs.721681 1741403;5019379 GDB:181084;PMC133998P8 ACTGP4 APPROVED pseudo 149 VALIDATED 1348277 ACTL4 actin-like 4 84 158 1345012 ACTL5 actin-like 5 1406950 85 159 735801 ACTB actin, beta This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, and integrity. This actin is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins. [provided by RefSeq, Jul 2008] 7 7 p22 5533312 5536747 - 5566779 5570232 - 1298665;1300347;5147998;6480464;6907045;7240710 1505215;734918;11226670 7821789;17502619;17342765;6202424;16130169;19377461;10966108;19538885;19475567;19451231;19309309;18533937;18364388;18261463;17939680;17651734;17548472;17373842;17181997;16824795;16762366;16685646;16549430;16536728;16375898;16289162;16210567;16189514;16148048;16146415;16021519;15952740;15940343;15897890;15862967;15711563;15673434;15592455;15574586;15556561;15555571;15527767;15489334;15231748;15111311;15101111;15009185;15009096;14966270;14760703;14702039;14634002;14623863;14592989;12963728;12853948;12704194;12673016;12670476;12665801;12591166;12547197;12522145;12477932;12470643;12456645;12435603;12388067;12080081;12062430;12029088;12009869;11983702;11964161;11955010;11950878;11950601;11940582;11937625;11854414;11846445;11832213;11812134;11790298;11787062;11721045;11709093;11707406;11696420;11691822;11673475;11580269;11579089;11563969;11535601;11533442;11532003;11415434;11373276;11350761;11326315;11257002;11238447;11078522;11029056;11027608;10945978;10866806;10851017;10833443;10792467;10787407;10773068;10748209;10683146;10677499;10604479;10601251;10600384;10470109;10470015;10411937;10403844;10381382;10078207;10074138;10049817;9971772;9848710;9848085;9847074;9845365;9813091;9739080;9686908;9676236;9563518;9525888;9487115;9463375;9359436;9295142;9268132;9252372;9209005;9150887;9108196;9013719;8941379;8913639;8892894;8780737;8761950;8661406;8639502;8619402;8605189;8547189;8341682;8319567;8125298;8050815;7929073;7876308;7876306;7103951;6865942;6842590;6686106;6322116;6304075;3842206;3335520;2994062;2837653;2155660;1734024;1662743;1629950;1555776;435297;274701;10556093;16526095;9841925;7535922;1540415;8997639;1991513;1907279;15710247;15371598;14694110;16091223;15140972;14597672;9288906;11461920;11357136;11839798;12639940;15558034;15361876;15502823;15135048;20308691;12679033;15107502;15328537;17289661;17643375;18680169;19041431;19477923;19638415;19802004;20197409;20201613;20381070;18478542;12082080;18809673;16226712;21045147;14729568;17620012;21455487;16101678;20804785;21172822;12665555;21182205;20391533;21555369;23077236;23084401;23184937;23383273;18160415;17573780;21221983;23091630;15047060;16687403;20081228;20946988;16196087;16944923;19167051;19928837;20618440;21203488;21800051;21300803;22285204;22323606;22989508;15175327;16179592;17360745;17411366;17504171;17599063;17676665;18331289;18443296;18775311;19380743;19639585;19710135;19883584;20147394;20856200;20876399;21668410;21917091;21923909;22004035;22053931;22465675;22505724;22535526;22797925;22944692;22272336;10547355;17955473;18457437;21734401;21900206;22079093;17620599;22573825;17203973;21670154;18654668;18781797;20639865;21726808;21890473;21906983;21942715;21987572;22178446;21890413;17683050;19322201;17361185;20473970;21044950;21575865;22234250;21110914;22366783;22536838;21145461;21319273;12202484;12857853;16364312;17868192;19725029;19738201;19805454;20972266;21139048;21182203;21565611;21963094;21988832;22323290;22623428;22623727;22751105;23246001;15746964;16186248;17353003;19338310;23326330;23428871;23463506;22855531;21163940;22939629;22961449;8228254;9245787;23395798;23466368;15834686;18000879;23398456;23482560;23535377;7820861;23221571 60 C9JTX5;C9JUM1;C9JZR7;E7EVS6;G5E9R0;Q1KLZ0;Q96HG5 ABBA01039461;AC006483;AK025375;AK058019;AK098751;AK130062;AK130157;AK222925;AK223032;AK223055;AK225414;AK301372;AK304552;AK308277;AK309997;AK316361;AMYH01017004;AY582799;AY970442;BC001301;BC002409;BC004251;BC008633;BC009636;BC012854;BC013380;BC013835;BC014401;BC014861;BC016045;BC023204;BC113036;CH471144;CS081475;D28354;DQ407611;DQ471327;EF036500;EF095209;FB571104;FB668235;GN346972;K00790;M10277;M28424;NG_007992;NM_001101;V00478;X00351;X63432 AAA51567;AAA51578;AAB16906;AAH01301;AAH02409;AAH04251;AAH08633;AAH12854;AAH13380;AAH14861;AAH16045;AAI13037;AAP22343;AAS79319;AAX82251;ABD66582;ABF01018;ABL01513;ABM81886;ABM85054;ABO65086;BAA05720;BAD96645;BAD96752;BAD96775;BAG62914;BAG65347;BAH14732;CAA23745;CAA25099;CAA45026;CAI95947;CAR95103;CAS92761;CAY56012;EAW87341;EAW87343;NP_001092;P60709 Hs.520640 1791422;1793360;1793732;1794552;1794984;2089064;2190487;2218708;5014437;5016584;5019351;5019353;5019357;5019363;5019371;5019379;5019389;5019545;5023519;5023521;5023523;5023529;5023549;5038458;5126815;5126817 ACTB-L;ECD18704;G15871;G49387;GDB:624560;PMC108612P1;PMC109445P1;PMC109669P1;PMC109689P1;PMC110143P1;PMC110200P1;PMC117780P1;PMC129447P1;PMC133998P8;PMC151817P1;PMC21334P2;PMC23952P1;PMC24561P1;PMC24942P1;PMC26753P1;PMC305873P2;PMC317352P1;PMC85795P4;PMC86716P1;REN115794;RI01350 BRWS1;PS1TP5BP1 OTTHUMP00000024886;PS1TP5-binding protein 1;actin, cytoplasmic 1;beta cytoskeletal actin APPROVED protein-coding ENSG00000075624 132 00032 102630;243310;607371 REVIEWED 1346529 ACTL10 actin-like 10 20 20 20 q11.22 29007336 29009363 + 31717965 31719992 + 32254304 32256331 + 11780052;12477932 170487 Q5JWF8 ABBA01019224;AL121906;AMYH01011855;AW006704;BC137111;BC137114;BI832107;CH471077;NM_001024675 AAI37112;AAI37115;EAW76309;NP_001019846;Q5JWF8 Hs.592151 C20orf134;dJ63M2.2 OTTHUMP00000030657;actin-like protein 10;putative uncharacterized actin family protein C20orf134 APPROVED protein-coding ENSG00000182584 16127 18570 VALIDATED 735789 ACTC1 actin, alpha, cardiac muscle 1 Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008] 15 15 q14 32867589 32875219 - 35080297 35087927 - 1298672;1559158;1598724;1598727;1598729;1300348;1300248;6480464;6907045;7240710 1639426;9563954;16343576;14654066;11680626;734919;704424 18952430;18515362;18513529;18506004;18477565;18403758;16967490;16754800;16199542;15489334;15337165;14988412;14760703;14702039;14507647;12721663;12554937;12477932;12452439;12445881;12438125;12417592;12408964;12358155;12271120;12270929;12207032;12139639;12136158;12134071;12118075;12110694;12087068;12063253;12042308;12029088;12019562;12011427;11997265;11983702;11968018;11936879;10966831;10847344;10528865;10494087;10330430;9848085;16611632;17765196;17611253;17947298;19293840;20835239;12771190;17606992;17620599;22266860;22573825;8913639;8163527;8127865;7780165;6689196;6584914;6310553;6273789;6272269;3789022;1762945;1602151;1246600;10556093;16526095;9841925;1540415;8997639;1991513;1907279;14694110;12898519;16169070;16288873;19799913;19853701;19875404;20031618;20086309;20359594;20474083;20308691;20962418;19913121;20628086;22939629;20391533;23084401;20508642;21622575;21182205;22980331;16196087;21800051;17360745;17411366;17504171;18443296;18775311;19639585;19883584;20147394;21917091;21923909;22004035;22465675;22505724;22535526;22643837;22989508;21890473;21900206;21906983;18781797;20639865;21778192;21383157;21110914;22219177;20301486;20301725;10397770;15576338;23398456;19805454;20972266;21139048;21150319;21963094;21987572;21988832;22053931;22623428;23000965;23246001 70 B3KPP5;P68032 ABBA01038521;AC087457;AI222203;AK056592;AK129892;AK129902;AK290616;AMYH01006540;BC009978;CH471125;CR541795;CR737466;DB504220;J00070;J00071;J00072;J00073;NG_007553;NM_005159 AAB59619;AAH09978;ABM84022;ABM87368;BAF83305;BAG51757;CAG46594;EAW92316;EAW92317;EAW92318;NP_005150;P68032 Hs.118127 1741645;2130431;2177805;5019379;5023519;5491332;5492092 GDB:181605;GDB:186852;PMC133998P8;PMC149351P1;PMC23952P1;SHGC-35611;STS_ADH2 ACTC;ASD5;CMD1R;CMH11;LVNC4 OTTHUMP00000160081;actin alpha cardiac 1;actin, alpha cardiac muscle 1;alpha-cardiac actin APPROVED protein-coding ENSG00000159251 143 00015 102540;612098;612794;613424 REVIEWED 1312061 ACTG1 actin, gamma 1 Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in non-muscle cells. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011] 17 17 q25 77091594 77094422 - 79476997 79479892 - 1331525;6480464;6907045;7240710 15118671 22266860;16189514;16130169;19548389;19110265;19008859;18804074;17914456;17722883;17693642;17285762;17220478;17088428;16901892;16824795;16773128;16690605;16569662;16365169;16236267;16179592;16169070;15759055;15618548;15489334;15231748;15163409;15009185;14760703;14684684;13680526;12665801;12612070;12519370;12477932;12470643;12388543;12372613;12052877;12029070;12009869;11941484;11733011;11709093;11474115;10970852;10958671;10925289;10903505;10848969;10781580;10713718;10662538;10074138;10049817;9971772;9808630;9362513;9245787;9199338;9153421;8941379;8892894;8761950;8661406;8630056;8617195;8612804;8416954;8399167;8228254;7849017;7820861;6893424;6865942;6686106;3737401;3510866;3472224;3335520;2837653;1602151;1331119;10556093;16526095;9841925;1540415;8997639;1991513;1907279;14694110;14597672;9288906;12481031;10772929;12874605;12835311;14565974;14576350;9535896;15746964;12665555;12679033;17643375;19477959;19638415;20381070;12082080;21163940;16101678;20797700;22863883;22990118;19059912;20391533;17573780;21378166;21502360;20946988;21252943;17043677;17955473;18781797;19596686;20618440;20972266;21139048;21151833;21800051;21890473;21900206;21906983;21908715;22178446;16289162;17203973;16300736;17361185;20473970;20301607;22536838;22366783;22623803;23277564;16263121;20639865;20706999;21150319;21382349;21963094;21987572;21988832;22053931;22623428;22751105;23246001;12605685;17360745;17411366;17504171;18443296;18775311;19639585;19710135;19883584;20147394;20876399;21917091;21923909;22004035;22465675;22505724;22535526;22989508;3015198;22855531 71 I3L1U9;I3L3I0;I3L3R2;I3L4N8;J3KT65;K7EM38;P63261 ABBA01032150;AC139149;AK291937;AK301175;AK304637;AMYH01008714;AMYH01008715;AY970363;AY970364;AY970365;AY970366;AY970367;AY970368;AY970369;AY970370;AY970371;AY970372;AY970374;AY970375;AY970376;AY970377;AY970380;AY970381;AY970382;AY970383;AY970402;AY970403;AY970404;AY970405;AY970406;AY970407;AY970408;AY970409;AY970410;AY970411;AY970412;AY970413;AY970414;AY970415;AY970416;AY970417;AY970418;AY970419;AY970420;AY970421;AY970441;AY970443;AY970444;AY970468;AY970469;AY970470;AY970471;AY970472;AY970473;AY970474;AY970475;AY970476;AY970477;AY970478;AY970483;AY970485;AY970486;AY970487;AY970488;AY970489;AY970490;AY970491;AY970492;AY970493;AY970494;AY970495;AY970496;AY970497;AY970498;AY970499;AY970500;AY970501;BC000292;BC001920;BC004223;BC007442;BC009544;BC009848;BC010417;BC010999;BC012050;BC015005;BC015695;BC015779;BC017450;BC018774;BC018861;BC023548;BC039144;BC053572;BC063495;BT019856;DB455954;HC250969;HC311158;M16247;M19283;NG_011433;NM_001199954;NM_001614;NR_037688;X04098 AAA51579;AAA51580;AAH00292;AAH01920;AAH04223;AAH07442;AAH09544;AAH09848;AAH10417;AAH10999;AAH12050;AAH15005;AAH15695;AAH15779;AAH17450;AAH18774;AAH23548;AAH53572;AAV38659;AAX82173;AAX82174;AAX82175;AAX82176;AAX82177;AAX82178;AAX82179;AAX82180;AAX82181;AAX82182;AAX82183;AAX82184;AAX82185;AAX82186;AAX82189;AAX82190;AAX82191;AAX82192;AAX82211;AAX82212;AAX82213;AAX82214;AAX82215;AAX82216;AAX82217;AAX82218;AAX82219;AAX82220;AAX82221;AAX82222;AAX82223;AAX82224;AAX82225;AAX82226;AAX82227;AAX82228;AAX82229;AAX82230;AAX82250;AAX82252;AAX82253;AAX82274;AAX82275;AAX82276;AAX82277;AAX82278;AAX82279;AAX82280;AAX82281;AAX82282;AAX82283;AAX82284;AAX82289;AAX82291;AAX82292;AAX82293;AAX82294;AAX82295;AAX82296;AAX82297;AAX82298;AAX82299;AAX82300;AAX82301;AAX82302;AAX82303;AAX82304;AAX82305;AAX82306;AAX82307;ABM82300;ABW03432;ACE87025;ACE87712;BAF84626;BAG62762;BAG65416;CAA27723;CBJ05782;CBJ21234;NP_001186883;NP_001605;P63261 Hs.514581;Hs.713764 1339842;1340599;1667442;1730387;1791422;1791600;1791602;1792364;1792366;1792368;2113634;5017200;5019351;5019355;5019363;5019371;5023519;5023529;5023549;5114548 D17S1646E;D17S1806;D17S668;G06574;PMC108612P1;PMC109653P1;PMC109669P1;PMC116333P1;PMC116333P2;PMC117780P1;PMC129447P1;PMC149466P5;PMC149466P6;PMC149466P7;PMC23952P1;PMC305873P2;PMC85795P4;RH48849;SHGC-8015;UniSTS:478947 ACT;ACTG;BRWS2;DFNA20;DFNA26 actin, cytoplasmic 2;cytoskeletal gamma-actin;gamma-actin APPROVED protein-coding ENSG00000184009 144 00017 102560;604717;614583 REVIEWED 1603412 ACTL6A actin-like 6A This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008] 3 3 q26.33 180763402 180788887 + 179280708 179306193 + 6480464 9845365;10966108;11256614;17081983;16189514;15647280;15489334;15196461;14966270;14743216;14702039;14503849;12963728;12665591;12477932;12437990;12353638;11839798;11734557;11509179;11342225;11266125;11230166;11078522;10611965;10380635;10078207;9710619;8125298;11784859;16169070;8895581;17573780;20460684;18922472;21145461;14966289;16387653;17643375;17207965;18809673;19720835;19759913;14559996;18026119;19454010;21303910;15985610;20360068;21139048;21532573;21549307;21890473;21906983;21963094;11726552;18816825;8804307;20562864;22939629;16196087;21699904;21821000;17314511;17721549;22467210;17878219;20305087;21907836;21628590;21320693;19380743;19716452;22797925 86 C9JQT2;H7C5S0;O96019 AA256726;AB015907;AB060168;AB061315;ABBA01058530;ABBA01058531;AC090425;AC126184;AF041474;AK021756;AK098691;AK223212;AL136608;AMYH01013688;BC000949;BC001391;BC035463;BC036371;CH471052;CR533529;NM_004301;NM_177989;NM_178042 AAC94991;AAH00949;AAH01391;AAH36371;ACE86855;ACE87542;ADQ32750;BAA74577;BAB87844;BAB87848;BAD96932;BAG51043;CAB66543;CAG38560;EAW78397;EAW78398;EAW78399;EAW78400;EAW78401;NP_004292;NP_817126;NP_829888;O96019 Hs.435326 1341014;1718943;1849753;2165875 D3S3699;RH123178;SHGC-77570;STS-N29372 ACTL6;ARPN-BETA;Arp4;BAF53A;INO80K;MGC5382 53 kDa BRG1-associated factor A;BAF complex 53 kDa subunit;BAF53;BRG1-associated factor 53A;INO80 complex subunit K;OTTHUMP00000212444;OTTHUMP00000212445;actin-like protein 6A;actin-related protein 4;actin-related protein Baf53a;arpNbeta;hArpN beta APPROVED protein-coding ENSG00000136518 24124 05389 604958 REVIEWED 737318 ACTG2 actin, gamma 2, smooth muscle, enteric Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010] 2 2 p13.1 73973601 74000288 + 74120093 74146780 + 1300349;1300249;6480464 734924;704425 17620599;17934296;17554369;17009076;16824795;15862967;15815621;15489334;14702039;12612070;12477932;12450213;10655297;8530021;7759108;2377475;1710027;1673027;10556093;16526095;9841925;1540415;8997639;1991513;1907279;14694110;12670476;14627618;19797053;20946988;22722757;21203488;17360745;17411366;17504171;18443296;18775311;19639585;19883584;20147394;20876399;21917091;21923909;22004035;22465675;22505724;22535526;22989508;12777385;18781797;21906983;20639865;20706999;20972266;21139048;21890473;21963094;21987572;22053931;22810585;22960657;23000965;23246001 72 B8ZZJ2;C9JFL5;F8WB63;F8WCH0;P63267 ABBA01075590;ABBA01075591;ABBA01075592;ABBA01075593;AC073046;AK124338;AK304523;AK310215;AK312955;AMYH01010448;AY970439;AY970440;BC012617;BC094877;BI850192;CH471053;CR536515;CR541794;D00654;NM_001199893;NM_001615;X16940 AAH12617;AAH94877;AAX82248;AAX82249;AAX88909;ABM83873;ABM87194;BAA00546;BAG35794;BAG54029;BAG65327;CAA34814;CAG38753;CAG46593;EAW99712;EAW99713;NP_001186822;NP_001606;P63267 Hs.516105 1745003;1791616;1793046;1856221;2124276;5023519;5023660;5492092 Acta1;D2S2088;GDB:592777;PMC117352P1;PMC193670P1;PMC23952P1;RH68187;STS_ADH2 ACT;ACTA3;ACTE;ACTL3;ACTSG OTTHUMP00000160245;OTTHUMP00000202509;OTTHUMP00000203034;actin, gamma 2;actin, gamma-enteric smooth muscle;actin-like protein;alpha-actin 3;alpha-actin-3;gamma-2-actin;smooth muscle gamma actin;smooth muscle gamma-actin APPROVED protein-coding ENSG00000163017 145 00016 102545 REVIEWED 1351133 ACTL6B actin-like 6B The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. [provided by RefSeq, Jul 2008] 7 7 7 q22 94970497 94983841 - 100078664 100091986 - 100240720 100254084 - 1580863;6480464 10380635;15489334;12853948;12690205;12565893;12477932;12437990;12368262;10611965;9847074;9799793;8889548;11726552;8804307;19913121;20628086;16169070;17207965;21832049;18029348;21900206;21906983;21963094;23222517 51412 C9JQT4;O94805 AACC02000084;AB015906;ABBA01013193;ABBA01013194;ABBA01013195;AC099394;AF041475;AK314940;AMYH01017740;BC008582;BC020944;BM696009;CH236956;CH471091;NM_016188 AAD54678;AAH20944;AAP21874;ADQ32375;BAA74576;BAG37446;EAL23823;EAW76502;EAW76503;EAW76504;EAW76505;NP_057272;O94805 Hs.259831 1672273;1778806;1788602;2191691;5124560 MARC3579-3580;MARC_5081-5082:996690120:1;RH47495;RH70657;RH80704 ACTL6;BAF53B 53 kDa BRG1-associated factor B;BRG1-associated factor 53B;OTTHUMP00000216133;actin-like 6;actin-like protein 6B;actin-related protein Baf53b;arpNalpha;hArpN alpha APPROVED protein-coding ENSG00000077080 160 12419 612458 REVIEWED 1312292 ACTL7A actin-like 7A The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008] 9 9 9 q31 82123898 82125330 + 110664424 110665856 + 111624603 111626035 + 1580863;6480464 22386842;10373328;15489334;15164053;12695497;12571287;12477932;10611965;18720898;12052866;21263130;21278383;21832049;22318606 10881 Q9Y615 AB284520;ABBA01042777;AF113526;AK314981;AL359692;AMYH01021618;BC014610;CH471105;HC006760;NM_006687 AAD44109;AAH14610;BAF41971;BAG37480;CBH19186;EAW59026;NP_006678;Q9Y615 Hs.123530 2218178 ACTL7A__4246 OTTHUMP00000021866;actin-like 7-alpha;actin-like protein 7A;actin-like-7-alpha APPROVED protein-coding ENSG00000187003 161 11976 604303 REVIEWED 1602048 ACTL9 actin-like 9 19 19 19 p13.2 8627110 8628531 - 8668753 8670172 - 8807751 8809172 - 6480464 12477932;22197932 284382 Q8TC94 ABBA01016837;AC093230;AC243312;AK292258;AMYH01009445;AY248901;BC024028;BC045752;NM_178525 AAH24028;AAH45752;AAP20052;BAF84947;NP_848620;Q8TC94 Hs.209206 HSD21;MGC33407 actin-like protein 9 protein-coding ENSG00000181786 28494 14562 VALIDATED 1602092 ACTL8 actin-like 8 1 1 1 p36.2-p35 16475534 16479615 + 17954431 18026145 + 18081808 18153558 + 6480464 14702039;12477932;18029348;17623298;21963094;23251661 81569 Q9H568 ABBA01000287;AK057339;AL136529;AMYH01000301;AMYH01000302;BC028909;BI826094;CH471134;NM_030812;U20582 AAA62476;AAH28909;ADZ15909;BAB71434;EAW94846;NP_110439;Q9H568 Hs.2149 2130132;2136409 SHGC-35351;SHGC-74298 CT57 OTTHUMP00000002612;actin like protein;actin-like protein 8;cancer/testis antigen 57 protein-coding ENSG00000117148 24018 11274 VALIDATED 6484054 ACTN4P1 actinin, alpha 4 pseudogene 1 4 q26 117519317 117520764 + 344978 ABBA01063863;AC106892;AMYH01014478;NG_022074 1710574;1851526;2129442 G01876;G34288;SHGC-82390 pseudo 44028 INFERRED 1313810 ACTL7B actin-like 7B The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known. [provided by RefSeq, Jul 2008] 9 9 9 q31 82116170 82117577 - 110656692 110658031 - 111616868 111618275 - 1580863;6480464 10373328;16344560;15489334;15164053;14702039;12907721;12477932;10611965;21832049 10880 Q9Y614 AB284521;ABBA01042777;AF113527;AI150021;AK097670;AK313871;AL359692;AMYH01021618;BC033789;CH471105;DB021848;HC006762;HC044497;NM_006686 AAD44110;AAH33789;ADZ15359;BAF41972;BAG36599;BAG53508;CBH19187;CBH30578;EAW59025;NP_006677;Q9Y614 Hs.534390 2114058;2218972 AB070173;ACTL7B__4247 Tact1 OTTHUMP00000021867;actin-like 7-beta;actin-like protein 7B;actin-like-7-beta APPROVED protein-coding 162 11977 604304 REVIEWED 1350885 ACTN1-AS1 ACTN1 antisense RNA 1 q24.1 16344560 161159 DB029126;NR_073422 Hs.603341 C14orf84 ACTN1 antisense RNA 1;ACTN1 antisense RNA 1 (non-protein coding) APPROVED miscrna 20131 VALIDATED 6483968 ACTN4P2 actinin, alpha 4 pseudogene 2 1 p34.3 38232107 38245184 + 20125193 391026 ABBA01023266;ABBA01023267;ABBA01023268;AC104336;AL929472;AMYH01000504 1336566 D1S186 pseudo 44032 MODEL 734136 ACTN3 actinin, alpha 3 This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants. The reference genome contains the non-coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Apr 2012] 11 11 q13.1 66070967 66087373 + 66314312 66330799 + 1298582;1580863;6480464;6907045 1339456 22247001;8104223;11171996;15841212;16807302;1629252;19422651;19405879;19237423;19150855;19038838;19016781;18801770;18756004;18718976;18687124;18676575;18651373;18637739;18470530;18043716;17986906;17879893;17848603;17630210;17627799;17560787;17550918;17468578;17339648;17033684;16612741;15886711;15817725;15808860;15718405;15489334;15221860;12879365;12837758;12477932;11440986;11309420;10656685;10192379;9675099;22648472;22045415;12692149;19544227;19696509;19807896;20005538;20010124;20013558;20044471;20044476;20069311;20089531;20148371;20222007;20459474;19913121;20561285;20628086;20734058;20699471;20830656;20845221;20952631;20966103;21072744;20936592;22916217;21299892;22639897;21407828;21472630;23145141;21784188;22996021;21956137;21930675;21842214;22253474;22117592;22224919;21933355;21890473;22891846;23000965;21491997;21926972;22868563 89 B4DZQ2;D6RH00;Q08043;Q4VAM3 ABBA01024074;AK125851;AK303044;AK313556;AMYH01003735;AP002748;BC096323;BC099647;BC099648;BC099649;CH471076;M86407;NG_013304;NM_001104;NM_001258371;NR_047663 AAA51585;AAH96323;AAH99647;AAH99648;AAH99649;BAG36331;BAG64164;EAW74546;NP_001095;NP_001245300;Q08043 Hs.654432 1712324;1742493;1769819;2161911;2171229;2172980 ACTN3;G54071;GDB:197568;RH47283;STS-M86407;STS-W72567 MGC117002;MGC117005 F-actin cross-linking protein;OTTHUMP00000219049;OTTHUMP00000219054;actinin alpha 3;alpha-actinin skeletal muscle;alpha-actinin-3 APPROVED protein-coding ENSG00000248746 165 02148 102574 REVIEWED 736411 ACTN1 actinin, alpha 1 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 q24 68410793 68515709 - 69340840 69446083 - 1298684;1300350;1580863;6480464;6484113;6907045 2349951;734925 12223541;12211109;11973348;11972044;11854440;11846417;11842093;11802708;11739652;11724819;11573089;11470434;11423549;11369769;11305911;11114196;11113628;11110697;10926853;10833443;10801846;10470015;10369880;10224105;7983147;10793131;15988023;16807302;18029348;1629252;19094982;18978946;18560563;18519573;18408146;18353764;17944866;17898132;17525629;17311919;17115122;17081983;16951376;16820411;16713569;16430917;16396496;16195373;16190873;16189514;16097034;15710624;15489334;15070900;14702039;12837758;12695497;12665801;12642359;12615977;12507293;12499399;12493766;12477932;12446711;22586326;10198040;9599291;9030526;8713105;8125298;7829101;7790378;7750553;2780298;2169343;1720388;8997639;1991513;10753915;2116421;12628297;9535896;12023963;14623081;22689882;21474972;21319273;7908020;14630798;15147863;15159419;15604093;16291744;17965186;19247474;19750481;20037648;20156433;10029173;19715605;20936779;20634891;17082780;20391533;23077236;23383273;21408150;15576338;17974975;2777757;20811636;21163940;21182205;22863883;22939629;23557398;16944923;16464232;18341635;19596686;21078624;21139048;21890473;21906983;22178446;9501083;14581471;16009940;16125169;23139387;23463506;23664615;12202484;16263121;18985028;19805454;21080425;21963094;21987572;21988832;22304920;23000965;15123239;23454549;19380743;23434115 87 B7TY16;G3V2E8;G3V2N5;G3V2W4;G3V2X9;G3V380;G3V5M4;H0YJ11;H0YJW3;H7C5W8;H9KV75;P12814 ABBA01023682;ABBA01023683;AJ844628;AK098203;AK124378;AK225782;AK294317;AK295099;AK298496;AK299362;AL117694;AMYH01005821;AMYH01005822;BC003576;BC004984;BC015766;BC127124;BI494856;BT007207;BX248020;BX641076;CH471061;DC321454;DC372566;DQ496098;EU716325;FJ410030;M95178;NG_029480;NM_001102;NM_001130004;NM_001130005;X15804;X55187 AAA51582;AAH03576;AAH15766;AAI27125;AAP35871;ABF50047;ABM81704;ABM86694;ACE62922;ACJ24535;BAG53591;BAG57591;BAG58135;BAG61357;BAH12801;CAA33803;CAA38970;CAD62344;CAH59747;EAW80971;EAW80972;EAW80973;EAW80974;EAW80975;EAW80976;NP_001093;NP_001123476;NP_001123477;P12814 Hs.509765 1665007;1684832;2131046;2132750;2155524;2160301;2160998;2186313;2191375;5014404;5022200;5022450;5024593;5491218 Actn1;D10S275;D14S1222;D14S1312;D14S931;D14S939;ECD17402;L18426;MARC_17931-17932:1024341335:5;RH48588;RH67009;RH93083;SHGC-58252;STS-D29544 BDPLT15;FLJ40884;FLJ54432 F-actin cross-linking protein;OTTHUMP00000245940;OTTHUMP00000245941;OTTHUMP00000245942;OTTHUMP00000245943;OTTHUMP00000245944;actinin 1 smooth muscle;alpha-actinin 1;alpha-actinin cytoskeletal isoform;alpha-actinin-1;non-muscle alpha-actinin-1 APPROVED protein-coding ENSG00000072110 163 00020 102575;615193 REVIEWED 1317671 ACTN2 actinin, alpha 2 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013] 1 1 q42-q43 234916422 234993863 + 236849770 236927558 + 1298582;1559161;1559162;1559160;1580863;6480464;6907045;7240710 1339456;9009191;14567970;11440986 22081385;22427672;11699871;10427098;9501083;8104223;9817758;11846417;10656685;16807302;12356918;12809483;15841212;18029348;1629252;19150855;19086053;18687124;18513529;17110593;16713569;16120608;15843396;15737636;15489334;15072553;14565974;12860415;12837758;12812986;12477932;12446711;12435606;12358155;12140183;12006649;11842093;11724819;11389904;11309420;11171996;11114196;10984498;10931874;10861853;10812072;10788519;10548523;10391924;9952395;9728925;9030526;8609175;1505962;9675099;16169070;15576338;12559088;12815021;14622581;14630798;15604093;16902413;19696509;19815520;19932097;20022194;20201926;20379614;20398908;20474083;8615909;8665664;9481670;10373510;16712791;15489953;11101506;21163940;22939629;20618440;17944866;21078624;22079093;21906983;22178446;20301486;20301725;22253474;21890473;21963094;21987572;21988832;23000965;15123239;22972877 88 B2RCS5;B7Z4P8;P35609 AB209521;ABBA01033173;AJ249756;AJ249757;AJ249758;AJ249759;AJ249760;AJ249761;AJ249762;AJ249763;AJ249764;AJ249765;AJ249766;AJ249767;AJ249768;AJ249769;AJ249770;AJ249771;AJ249772;AJ249773;AJ249774;AJ249775;AJ249776;AK294906;AK297469;AK297618;AK297628;AK297886;AK315250;AL359185;AL359921;AMYH01001859;AMYH01001860;BC047901;BC051770;BX103017;CB153006;CH471098;DC378038;M86406;M86804;NG_009081;NM_001103;NM_001278343;NM_001278344 AAA51583;AAA51584;AAH47901;AAH51770;BAD92758;BAG37672;BAH11921;BAH12587;BAH12632;BAH12634;BAH12687;CAB61269;EAW70064;EAW70065;NP_001094;NP_001265272;NP_001265273;P35609 Hs.498178 1734422;1742171;1776434;1849520;2110241;2113650;2127122;2158573;2162749;5109773;5117194 ACTN2;ACTN2_4196;AL009965;D1S1759E;D1S2059E;D1S2925;G31538;GDB:192954;GDB:451691;SHGC-12727;SHGC-76572 CMD1AA F-actin cross-linking protein;OTTHUMP00000037963;alpha-actinin skeletal muscle;alpha-actinin-2 APPROVED protein-coding ENSG00000077522 164 00019 102573;612158 REVIEWED 1316546 ACTR1B ARP1 actin-related protein 1 homolog B, centractin beta (yeast) This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein and is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq, Aug 2008] 2 2 2 q11.1-q11.2 92476403 92484541 - 97638863 97646816 - 98272402 98280561 - 1580863;6480464 12857853;7696711;17619203;15815621;15489334;12477932;11256614;10343100;21145461;16169070;19996280;21832049;22939629;20360068;21900206;21139048;21906983;22863883;9436979 10120 P42025 ABBA01073975;AC017099;AMYH01010794;AMYH01010795;BC004374;BC006372;BC010090;BC025274;CH471127;NM_005735;X82207;X82208 AAH04374;AAH06372;AAH10090;AAY24280;ABM84364;ABM87747;CAA57691;CAA57692;EAX01923;EAX01924;EAX01925;EAX01926;EAX01927;EAX01928;NP_005726;P42025 Hs.98791 1699680;1721481;2135297;2187243 G59594;RH103445;WI-13619;WI-19134 ARP1B;CTRN2;PC3 OTTHUMP00000161110;actin-related protein 1B;beta-centractin;centractin beta APPROVED protein-coding ENSG00000115073 168 05508 605144 REVIEWED 1315176 ACTR10 actin-related protein 10 homolog (S. cerevisiae) 14 14 14 q23.1 38716785 38752305 + 57736586 57772107 + 58666833 58702354 + 1580863;6480464 16341674;15489334;14702039;12857853;12477932;8125298;16712791;22863883;22939629;20360068;21139048;21906983;22053931 55860 F6S9Y6;G3V2Q5;G3V4K6;G3V524;G3V5Y4;H0YJD9;H0YJE8;H0YJR3;Q9NZ32 ABBA01018251;ABBA01018252;ABBA01018253;AF220190;AK000544;AK022248;AK022534;AK222624;AK222702;AK315537;AL121579;AL132989;AMYH01005757;BC005208;BC011997;BM750953;BX161491;BX248282;CB135721;CH471061;NM_018477 AAF67655;AAH05208;AAH11997;ABM82220;ABM85404;BAA91243;BAB14083;BAD96344;BAD96422;BAG37916;CAD61940;CAD62610;EAW80714;NP_060947;Q9NZ32 Hs.509451 1652371;1676198;1783006;2121160;2121162 A005R28;D14S774;G20444;RH91710;SHGC-111380 ACTR11;Arp11;HARP11 OTTHUMP00000244964;actin-related protein 10;actin-related protein 11 protein-coding 17372 12420 VALIDATED 735302 ACTN4 actinin, alpha 4 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008] 19 19 q13 43830167 43913010 + 39138267 39221171 + 1598731;1300349;1580863;6480464;6484113;6907045;7240710 10700177;734924 22586326;12411747;8104223;15841212;9508771;15048094;11948184;16807302;18029348;15619032;1629252;19357256;19151661;19142020;18765526;18726620;18552466;18436095;18362906;18215660;18180332;18164029;17968527;17901210;17873890;17438131;17018644;16980305;16951376;16713569;16396496;16344560;16251236;16189514;15780077;15772161;15592455;15588985;15493875;15489334;15152255;15070900;12960352;12837758;12617336;12477932;12093915;12042308;11882289;11739652;11733011;11724819;11382784;11358829;11160423;10915794;10753915;10673389;10656685;9461087;2116421;1602151;10556093;11707406;14630798;16204054;16944923;17289661;19447967;19666657;19672209;19913389;19920151;19956976;20037648;20156433;20197409;20201926;22370640;16751776;20819441;22252987;15342556;16341674;20936779;19913121;20628086;20519146;21078666;21234524;22863883;21163940;22939629;21408150;21680739;23557398;22908231;21800051;16196087;21655212;22351778;22567897;17370265;18781797;21139048;21890473;21906983;21987572;22178446;12202484;16212417;19738201;19805454;20448150;21963094;21988832;22623428;23000965;22348389;17955473;21078624;21081666;21890413;22079093;16009940;19322201;22825873;23454549;20391533;22965004;23106098;23182705;23463506;23000411;19380743;22797925;23085994 81 D6PXK4;F5GXS2;H7C144;K7EJH8;K7EP19;O43707 AA478431;AA847056;ABBA01040690;ABBA01040691;ABBA01040692;AC008649;AC022144;AK299955;AK304554;AK309361;AK309363;AK309364;AMYH01009784;AU118403;BC005033;BC015620;BM841805;BP332596;BX647098;CH471126;D89980;DQ431186;GU987085;NG_007082;NM_004924;U48734 AAC17470;AAH05033;AAH15620;ABD96103;ABM84365;ABM87776;ADG03678;BAA24447;BAG61782;BAG65349;EAW56809;EAW56810;EAW56811;NP_004915;O43707 Hs.270291 1331580;1341564;1653166;1761859;1761991;1777220;1854288;2142134;2153714;2180935;2190983;5108403;5491216 A008Q24;Actn4;D19S1071;D19S422;D19S589;D4S439E;MARC_12245-12246:1008698037:1;RH16012;RH35900;SHGC-145808;SHGC-145914;SHGC-16522;WI-17325 ACTININ-4;DKFZp686K23158;FSGS;FSGS1 F-actin cross-linking protein;OTTHUMP00000174445;actinin alpha 4;actinin alpha4 isoform;alpha-actinin-4;focal segmental glomerulosclerosis 1;non-muscle alpha-actinin 4 APPROVED protein-coding 166 05222 603278;604638 REVIEWED 1315973 ACTR1A ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin. [provided by RefSeq, Jul 2008] 10 10 q24.32 104228976 104252452 - 104238986 104262512 - 6480464 1528266;7696711;18303113;16381901;15489336;15489334;15164054;14702039;12871323;12477932;11461920;11256614;11076863;10671518;10671377;10607828;10504299;10196146;10074429;9499420;8991093;7878030;7518465;1356230;11357136;11483508;21145461;19737819;11076968;12221128;12852856;16462731;7790358;23184937;22863883;22939629;16196087;20360068;21110914;21139048;21890473;21906983;21628590 10121 AAB23391;B4DXP9;F5H3I4;P61163;R4GMT0 ABBA01063151;ABBA01063152;ABBA01063153;AK096085;AK297362;AK297620;AK302072;AK312506;AL121928;AMYH01003018;BC000693;BC026016;CH471066;DC384284;NG_011901;NM_005736;X82206;Z14978 AAB23391;AAH00693;AAH26016;ABM83615;ABM86860;BAG35407;BAG59809;BAG59996;BAG63461;CAA57690;CAA78701;CAL38013;EAW49685;EAW49686;EAW49687;EAW49688;NP_005727;P61163 Hs.153961 1667693;1688941;1712184;1744313;1761207;1770808 G54143;GDB:451658;RH47050;SHGC-145218;SHGC-57449;WI-22078 ARP1;CTRN1;FLJ52695;FLJ52800;FLJ55002 OTTHUMP00000020366;actin-RPV;alpha-centractin;centractin;centrosome-associated actin homolog APPROVED protein-coding ENSG00000138107 167 05507 605143 REVIEWED 3004191 ACTR3BP1 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 1 Y Y q11.21 12011449 12013292 + 13551549 13553192 + 9847074 643050 ABBA01032196;AC134879;NG_005799 pseudo 37724 INFERRED 4108537 ACTR3BP3 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 3 16 16 p11.2 32297349 32299183 - 32389949 32391590 - 647156 Q9BWW0 ABBA01002154;AC138915;AMYH01007527;CH471357;NG_005800 EAW51523 pseudo 38678 INFERRED 4108510 ACTR3BP2 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 2 2 2 p11.1 91492494 91494319 + 92129159 92130496 + 440888 Q9BWW1 ABBA01048753;AC128677;AMYH01010666;AY026351;CH471366;NR_027714 AAK31777;EAW50837;EAW50838 Hs.730239 5094658 PMC310890P1 FKSG73 pseudo ENSG00000226481 38677 VALIDATED 4109091 ACTR3BP4 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 4 4 4 4 q24 101180392 101182025 + 104102456 104104456 + 103883285 103884928 + 9847074 777774 ABBA01063705;AC083826;AMYH01014433;NG_005802;NG_008662 pseudo 38681 INFERRED 4109092 ACTR3BP6 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 6 22 22 q11.1 15347583 15349226 + 16967583 16969226 + 644773 Q9BWW2 ABBA01001470;AMYH01012415;AP000546;AP000547;AY026350;NG_005801 AAK31776 pseudo 38683 INFERRED 4109585 ACTR3BP5 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 5 10 10 p11.1 39029634 39031478 + 38989727 38991372 + 399746 ABBA01003903;AL133173;AMYH01002273;AY026352;NR_045000 AAK31778 Hs.742607 5094658 PMC310890P1 FKSG74 pseudo ENSG00000227264 38682 VALIDATED 4109173 ACTR3P3 ARP3 actin-related protein 3 homolog (yeast) pseudogene 3 3 3 3 q12.2 99273655 99274600 + 102364628 102365553 + 100881938 100882883 + 100128020 ABBA01061779;AC093008;AMYH01013359;NG_022261 pseudo 38679 INFERRED 4108897 ACTR3P2 ARP3 actin-related protein 3 homolog (yeast) pseudogene 2 X X X q13.1 68344091 68345347 + 67906224 67909149 + 67991165 67992421 + 100129013 ABBA01067385;AL353587;AMYH01022520;NG_022669 pseudo 38676 INFERRED 1343118 ACTR3P1 ARP3 actin-related protein 3 homolog (yeast) pseudogene 1 14 14 q11.2 1915758 1918332 - 22053413 22054404 - 100288580 ABBA01061261;AE000521;AE000658;AMYH01005596;NG_023029 pseudo 31820 INFERRED 1603621 ACTR3B ARP3 actin-related protein 3 homolog B (yeast) This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] 7 7 7 q36.1 148258695 148259790 + 152087784 152183396 + 152456834 152552464 + 6480464 17353931;14702039;14651955;12853948;12477932;11162478;10806390;10047519;16169070;20379614;12857853;15176487;21963094;21988832;23251661;23398456 57180 Q59GD5;Q9P1U1 AA559050;AB209174;ABBA01035089;ABBA01035090;ABBA01035091;ABBA01035107;ABBA01035108;ABBA01035109;ABBA01035110;ABBA01035111;ABBA01035112;AC072057;AC092180;AF023453;AF086920;AK001198;AK294292;AK315534;AK316078;AMYH01018154;AMYH01018155;AMYH01018156;AMYH01018157;AMYH01018158;BC008682;BC015207;CH471209;DB570472;DN601600;NM_001040135;NM_020445;NR_073000;NR_073001 AAC98904;AAH08682;AAH15207;AAP97150;AAS07430;ABM85680;ABW03746;BAD92411;BAG37914;BAG50867;BAG57575;BAH14449;EAW80446;NP_001035225;NP_065178;Q9P1U1 Hs.647117 1758171;2142725;2155343;2156224;2156333;2158419;2173746;2181199;2187705;2187707;5014029;5022463;5022578 D13S1639;D1S1423;D3S1673;D7S1390;D7S3198;D7S3199;GDB:1318002;GDB:1318182;RH78488;SHGC-147571;SHGC-30943;STS-W68401;WI-14223 ARP11;ARP3BETA;DKFZp686O24114 ARP3-beta;OTTHUMP00000200055;OTTHUMP00000200076;OTTHUMP00000200077;actin-like protein 3B;actin-related protein 3-beta;actin-related protein 3B;actin-related protein ARP4;actin-related protein Arp11 APPROVED protein-coding ENSG00000133627 17256 12489 REVIEWED 6771192 ACTR6P1 ARP6 actin-related protein 6 homolog (yeast) pseudogene 1 4 107757658 107758728 - 100421495 ABBA01063745;AC104829;AMYH01014448;NG_025147 pseudo 44210 INFERRED 2923209 ACTR3C ARP3 actin-related protein 3 homolog C (yeast) 7 7 7 q36.1 144543643 144577847 - 149575234 149651741 - 149944301 150020758 - 6480464 11162478;14651955;16344560;8889548 653857 C9IZN3;C9J580;H7C4J1;Q9C0K3 AACC02000108;AB039791;ABBA01035192;ABBA01035193;ABBA01035194;ABBA01035195;ABBA01035196;AC005586;AC006008;AK130039;AMYH01018137;AMYH01018138;BM674900;BX640643;DA868104;DN992136;DR004860;NM_001164458;NM_001164459 BAB21501;BAC85283;CAI56711;NP_001157930;NP_001157931;Q9C0K3 Hs.664579 1758171;1856543;2142725;2158419;2187705;5037552 D7S3198;D8S2279;GDB:1318002;GDB:1318182;GDB:4585543;SHGC-147571 ARP11 OTTHUMP00000212791;actin-related Arp11;actin-related protein 11;actin-related protein 3C protein-coding ENSG00000106526 37282 VALIDATED 1321952 ACTR2 ARP2 actin-related protein 2 homolog (yeast) The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 p14 65308406 65351891 + 65454829 65498387 + 631743;6480464;6484113 9230079 17353931;19286135;19262673;18720401;18516090;17501982;17459058;17085436;16638851;16403731;16253999;16004967;15741236;15489334;15469433;15385624;15247266;15242766;15146197;12872157;12791263;12672817;12534372;12515716;12477932;12473693;12468383;12464680;12429845;12200375;12176354;12036877;12019562;11741539;11721045;11706047;11146629;11052943;11018051;10781580;10563804;10524632;10421578;10381382;9889097;9359840;9210376;9000076;10880444;21145461;20308691;15834156;19641626;19913427;20404198;21108927;23077236;23106098;21182205;22863883;22939629;16196087;22586326;23051739;18781797;21987572;22118674;21139048;21890473;21906983;22100162;22125478;19322201;19738201;21963094;21988832;23000965;23212915;20876399;22053931;22268729;22505724;22797925 10097 F5H6T1;P61160 ABBA01075438;AC007318;AF006082;AK295157;AK301634;AK315205;AL049356;AMYH01010405;BC014546;BC036253;BI670123;BQ425220;BQ684301;BU184246;BX491447;BX649080;CH471053;CN291246;DC404298;NM_001005386;NM_005722;W15444 AAB64187;AAH14546;AAH36253;ACE86733;ACE87419;BAG37642;BAG58171;BAG63117;EAW99908;EAW99909;EAW99910;EAW99911;EAW99912;EAW99913;EAW99914;NP_001005386;NP_005713;P61160 Hs.643727;Hs.744913 1681131;1682293;1705140;2134323;2134325;5096169 A005P05;G20390;RH27241;RH38846;SHGC-31132;SHGC-80003 ARP2 OTTHUMP00000159937;OTTHUMP00000202270;actin-like protein 2;actin-related protein 2 APPROVED protein-coding ENSG00000138071 169 05023 604221 REVIEWED 736322 ACTR3 ARP3 actin-related protein 3 homolog (yeast) The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013] 2 2 q14.1 114364007 114432637 + 114647537 114716167 + 631743;6480464;6484113 9230079 17353931;19286135;19262673;18516090;17576929;17524364;17501982;17085436;16403731;16253999;16004967;15741236;15635413;15592455;15489334;15469433;15385624;15279900;15247266;15242766;12872157;12829704;12791263;12672817;12477932;12473693;12464680;12429845;12200375;12176742;10381382;9889097;9860974;9359840;9210376;9000076;12534372;10421578;12176354;12036877;11882288;11790298;11741539;11721045;11146629;11052943;11018051;10806390;10781580;10563804;10524632;22261722;19913427;20404198;20974812;21108927;20308691;21182205;22863883;22939629;22586326;22145905;19738201;20195357;21963094;23000965;23051739;18781797;20360068;21139048;21890473;21906983;22100162;23320827;20585556;20603326;20876399;22053931;22505724;22797925 10096 B4DXW1;F5H3P5;F8WDR7;F8WE84;F8WEW2;P61158 AB209353;ABBA01045977;ABBA01045978;AC110769;AF006083;AF127773;AI521063;AK300030;AK300224;AK302152;AK302359;AK303988;AK312659;AK316213;AK316396;AL832773;AMYH01010970;BC044590;CH471103;DB453995;NM_001277140;NM_005721;NR_102318 AAB64188;AAD51904;AAH44590;AAX93226;BAD92590;BAG35542;BAG61841;BAG61992;BAG63523;BAG63684;BAG64905;BAH14584;BAH14767;EAW95179;EAW95180;EAW95181;EAW95182;NP_001264069;NP_005712;P61158 Hs.433512;Hs.595349 1670847;1772905;1774732;2171464 D2S2582;RH68378;WI-12604;WI-20350 ARP3 OTTHUMP00000203980;actin-like protein 3;actin-related protein 3;actin-related protein 3 homolog (yeast) APPROVED protein-coding 170 05024 604222 REVIEWED 1312146 ACTR6 ARP6 actin-related protein 6 homolog (yeast) 12 12 12 q23.1 100259848 100283475 + 99118705 99142332 + 100593865 100618202 + 737633;1580863;6480464 12477932 16487625;15489334;14702039;11368909;8125298;17643375;17207965;20473270;21890473;21906983;22467210;16344560 64431 F8VP72;F8VRL1;F8VSD1;F8W043;F8W057;F8W0Q1;G3V1Y1;Q9GZN1 AB038229;ABBA01053261;ABBA01053262;ABBA01053263;AC010203;AC026110;AF161399;AF175226;AF212251;AK023495;AK023684;AK124075;AK222959;AK296991;AMYH01004696;BC015107;BC042997;BC050679;CH471054;DB022992;NM_022496;NR_048568;NR_048569 AAF28959;AAH15107;AAK14934;AAQ13651;ADQ31805;BAB14588;BAB14640;BAB20762;BAD96679;BAG53999;BAG59531;EAW97623;EAW97624;EAW97625;EAW97626;EAW97627;NP_071941;Q9GZN1 Hs.115088 1340032;1650044;2150690;5015961;5037552 D12S1588;D12S2127;D12S2146;D15S1477;D8S2279 ARP6;CDA12;FLJ13433;HSPC281;MSTP136;hARP6;hARPX OTTHUMP00000243341;OTTHUMP00000243343;OTTHUMP00000243347;OTTHUMP00000243348;actin-related protein 6 protein-coding ENSG00000075089 24025 12421 VALIDATED 1317453 ACTR5 ARP5 actin-related protein 5 homolog (yeast) 20 20 20 q11.23 34087821 34111793 + 36810511 36834503 + 37377097 37401089 + 6480464 19014934;16230350;15489334;14702039;12601173;12477932;11780052;18922472;18163988;17643375;20197409;18026119;21303910;22939629;17721549;21900206;21906983 79913 Q9H9F9 ABBA01052531;ABBA01052532;AK022847;AL133519;AMYH01011906;AY211911;BC001324;BC006162;BC038402;BF529768;CH471077;NM_024855 AAH01324;AAH06162;AAH38402;AAO65164;BAB14270;EAW76010;EAW76011;NP_079131;Q9H9F9 Hs.371585 1750857;2174373 RH65503;SHGC-104591 Arp5;FLJ12785;INO80M INO80 complex subunit M;OTTHUMP00000030976;actin-related protein 5;hARP5;sarcoma antigen NY-SAR-16 protein-coding ENSG00000101442 14671 08575 VALIDATED 1606455 ACTRT2 actin-related protein T2 The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [provided by RefSeq, Jul 2008] 1 1 1 p36.32 2136394 2137815 + 2927906 2929327 + 2938046 2939467 + 6480464 15489334;15342556;12477932;12243744;11750065;18029348 140625 Q8TDY3;Q96LK1 AB057364;ABBA01073669;AF440740;AK058153;AK314500;AL356984;AMYH01000185;AW016204;BC029499;BI825639;BP370015;CH471248;HC006780;NM_080431 AAH29499;AAM00433;ABM82186;ABM85372;BAB71690;BAB85862;BAG37100;CBH19196;EAW61142;NP_536356;Q8TDY3 Hs.236635 ARPM2;ARPT2;Arp-T2;FLJ25424;HARPM2 OTTHUMP00000000569;actin-related protein M2;actin-related protein T2;actin-related protein hArpM2 APPROVED protein-coding ENSG00000169717 24026 12254 608535 REVIEWED 1323563 ACTR8 ARP8 actin-related protein 8 homolog (yeast) 3 3 3 53868375 53883507 - 53876195 53891227 - 53901093 53916229 - 1580863;6480464 18922472;18163988;17081983;16230350;15188402;14702039;12477932;21048031;20971067;16344560;17643375;18026119;21303910;22939629;22977180;17721549;21906983;22210892 93973 C9J7L6;H0Y849;Q9H981 ABBA01024471;AC012467;AK022996;AK026232;AK094507;AMYH01013195;BC032744;BU070174;BX354684;CH471055;DA453867;NM_022899 AAH32744;BAB14352;BAB15402;BAG52879;EAW65300;NP_075050;Q9H981 Hs.412186 1683269;1699606;1706472;5126793 RH103404;RH99050;SHGC-81122;WI-14906 ARP8;FLJ12934;FLJ22579;INO80N;hArp8 INO80 complex subunit N;OTTHUMP00000212735;OTTHUMP00000213228;actin-related protein 8 protein-coding ENSG00000113812 14672 09792 VALIDATED 1605289 ACTRT1 actin-related protein T1 This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X. [provided by RefSeq, May 2010] X X X q25 127568642 127570083 - 127012622 127014058 - 127184941 127186382 - 12477932;15772651;15489334;12243744 139741 Q8TDG2 ABBA01047641;AF440739;AMYH01022957;AY251532;BC014597;CH471107;DB452140;DB510229;NG_021358;NM_138289;Z74696 AAH14597;AAM00432;AAP20055;ACE86838;ACE87525;EAX11839;NP_612146;Q8TDG2 Hs.680125 AIP1;ARIP1;ARP-T1;ARPT1;HSD27;KIAA0705;MGC26590 OTTHUMP00000023981;actin-related protein T1 APPROVED protein-coding ENSG00000123165 24027 06439 300487 REVIEWED 1607001 ACTRT3 actin-related protein T3 3 3 3 q26.2 167883851 167885293 - 170967407 170970377 - 169484709 169487683 - 6480464 15489334;14702039;12477932;11750065;18692047 84517 Q9BYD9 AB049117;ABBA01058704;ABBA01182499;AC078802;AI811210;AK055346;AMYH01013640;AMYH01013641;BC007289;NG_016363;NM_032487 AAH07289;ABM87440;ABW03891;BAB39481;BAB70906;NP_115876;Q9BYD9 Hs.135411 1715375;2110263 ARPM1__4373;RH120520 ARP-T3;ARPM1;MGC15664 actin related protein M1;actin-related protein M1;actin-related protein T3 APPROVED protein-coding ENSG00000184378 24022 12253 608534 VALIDATED 6769114 ACVR2B-AS1 ACVR2B antisense RNA 1 3 p22.2 38492518 38496311 - 100128640 ABBA01024819;ABBA01024820;AK025619;AMYH01013092;AMYH01013093;AP006191;NG_011791;NR_028389 Hs.570596 5015961;5017170;5118718 D11S3590;D15S1477;L29953 APPROVED miscrna ENSG00000229589 44161 VALIDATED 1344480 ACVR1 activin A receptor, type I Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008] 2 2 q23-q24 158301207 158403036 - 158592958 158732374 - 1580863;1559169;2313802;2317217;6480464;6484113;6907045;7240710 12770730;11675415;9714055 22748444;18292470;18234825;18019378;17572636;17496924;17351709;16344560;15761153;15489334;12651901;12477932;12032389;11969340;11266516;11069203;10652350;10583507;10085121;9872992;9748228;9501322;9267036;9136927;8702914;8622651;8612709;8599089;8397373;8389764;8248234;8006002;7890683;7791754;12065756;8242742;12702211;18436533;9884026;16642017;19574343;19543505;19506109;19400542;19330033;19300893;19299629;19148527;19085907;19064572;19028479;18952055;18854405;18830232;18684712;19929436;19335617;19736306;19796185;19896889;19996292;20011542;20463014;10631143;10665670;20634197;20677014;20716560;20734064;21297076;20577760;20736820;21377447;23169291;22977237;22884369;21248739;21617230;21878751;21668474;21791611;23227223;23455153;12857866;22630080;23260810;15611116;22971142;23142694;19758997;20663871;22949078 90 C9J1R3;C9JHJ7;C9JW28;D3DPA4;F5GY91;Q04771 A38807;ABBA01004847;AC013731;AC019186;AK297765;AK313630;AMYH01011199;BC033867;BC036748;CH471058;DA796090;HB448223;HI574330;HM015588;L02911;NG_008004;NM_001105;NM_001111067;Z22534 AAA36614;AAH33867;AAY15094;AAY24272;ADL14509;BAG60113;CAA02405;CAA80256;CAZ91465;CBX47654;EAX11438;EAX11439;EAX11440;EAX11441;EAX11442;EAX11443;NP_001096;NP_001104537;Q04771 Hs.470316 1331573;1331597;1341043;1644118;1659745;1705306;1753845;1776378;1849101;2180363;2189345;2218974;7187947 ACVR1_4033;D2S1294;D2S2000;D2S284;D4S1625;D4S2417;MARC_1909-1910:991931646:1;RH68903;RH69582;RH70974;SHGC-78610;SHGC-89211 ACTRI;ACVR1A;ACVRLK2;ALK2;FOP;SKR1;TSRI OTTHUMP00000162806;OTTHUMP00000204604;OTTHUMP00000204626;OTTHUMP00000240120;TGF-B superfamily receptor type I;activin A receptor, type II-like kinase 2;activin receptor type I;activin receptor type-1;activin receptor-like kinase 2;hydroxyalkyl-protein kinase;serine/threonine-protein kinase receptor R1 APPROVED protein-coding ENSG00000115170 171 00021 102576;135100 REVIEWED 1353319 ACY1L aminoacylase 1-like 96 178 1349804 ACVR1B activin A receptor, type IB This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] 12 12 q13 50631753 50677127 + 52345451 52390863 + 1598735;1580888;1580863;1559169;2317217;6480464 11248065;14993131;12770730;9714055 12065756;12665502;8622651;14517293;18039968;16720724;11117535;9884026;9032295;8397373;19035567;17906079;15489334;15459392;15196700;15123686;12651901;12639945;12477932;12364468;12112843;12032389;12023024;11969340;11909953;11279102;11278302;11266516;10652306;9892009;9501322;8612709;22267736;12857866;12919325;20226172;20347265;20379614;7890768;8196624;8058741;9202237;9738003;7791754;11356828;20734064;20819778;21063444;15908921;21377836;23010638;20596523;11389842;19953087;21791611;19322201;21988832;22939624;23159635;23263486;19758997;20663871 91 F5H5Q2;P36896 ABBA01031621;ABBA01031622;AC025259;AK299120;AK299496;AL117643;AMYH01004470;AMYH01004471;BC000254;BC034008;BC040531;BT007072;CH471111;L10125;L10126;L31848;NG_022926;NM_004302;NM_020327;NM_020328;U14722;Z22536 AAA50246;AAA53349;AAA53350;AAA53351;AAA60555;AAA60556;AAH00254;AAH40531;AAP35735;ACE86741;ACE87427;BAH12954;BAH13051;CAA80258;EAW58216;EAW58217;EAW58218;NP_004293;NP_064732;NP_064733;P36896 Hs.438918 1694492;1720981;1747709;1747711;1748361;1795286;2134191;2162040;2174779 A003N21;ACVR1B_689;G42984;G59320;G64251;G64263;G64264;GDB:679112;RH69000 ACTRIB;ACVRLK4;ALK4;SKR2 OTTHUMP00000237285;OTTHUMP00000237286;OTTHUMP00000237287;OTTHUMP00000237289;OTTHUMP00000241624;activin A receptor, type II-like kinase 4;activin receptor type-1B;activin receptor-like kinase 4;serine/threonine-protein kinase receptor R2 APPROVED protein-coding ENSG00000135503 172 03193 601300 REVIEWED 734123 ACVR1C activin A receptor, type IC ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008] 2 2 q24.1 158097150 158193645 - 158383279 158485399 - 1580863;6480464;6907045 12063393;15531507;19275893;18951876;18784254;18480259;16603637;15815621;15489334;15196700;15150278;15107418;12606401;12477932;11485994;22318606;21356369;20734064;22086737;22939624 130399 Q53SF5;Q8NER5 ABBA01004847;AC019186;AC079750;AF525679;AF525680;AF525681;AMYH01011196;AMYH01011197;AMYH01011198;AMYH01011199;AW014016;AY127050;BC022530;BC030101;BI601014;CH471058;CS173113;CS173115;CS173117;NM_001111031;NM_001111032;NM_001111033;NM_145259 AAH22530;AAM93495;AAP21993;AAP21994;AAP21995;AAX88951;AAY15093;ABM86496;ABW03656;CAJ33702;CAJ33703;CAJ33704;EAX11444;EAX11445;EAX11446;NP_001104501;NP_001104502;NP_001104503;NP_660302;Q8NER5 Hs.562901 1761163;1784242;2113492;5014055 BZ943404;D1S3697;SHGC-145176;SHGC-156123 ACVRLK7;ALK7 ACTR-IC;ALK-7;OTTHUMP00000162803;OTTHUMP00000204601;OTTHUMP00000204602;OTTHUMP00000204603;activin receptor type IC;activin receptor type-1C;activin receptor-like kinase 7 1643253 BW133_H APPROVED protein-coding 18123 10608 608981 VALIDATED 737613 ACVR2B activin A receptor, type IIB Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008] 3 3 p22 38470794 38509637 + 38495790 38534633 + 1300351;1580863;1559169;6480464;6907045;7240710 734934;12770730 8622651;14517293;15621726;18436533;9916847;12493773;14738881;8161782;17356069;17893364;17347381;15489334;15451561;15342556;15123686;12782414;12651901;12477932;11969340;11882656;11459935;22318606;22431721;11306176;11279102;11278302;11266516;10766733;10702675;10391213;10212081;9748228;9621519;9202237;8702914;8612709;9872992;10504300;15304227;11094085;15064755;16845371;19453261;20424473;20466801;20734064;21353874;19903896;22939624;22296042;21864452;22395277;20663871 93 Q13705;Q71UM3 AB008681;AB209449;ABBA01024819;AF060200;AF060201;AF060202;AF075005;AMYH01013093;AP006191;BC096243;BC096244;BC096245;BC099642;BP352716;CH471055;NG_011791;NM_001106;X77533 AAC28458;AAC64515;AAH96243;AAH96244;AAH96245;AAH99642;BAA24180;BAD92686;CAA54671;EAW64536;NP_001097;Q13705 Hs.174273 1682786;1793200;2133916;2149331;5014053;5015861;5022929;5115852;5491244;5493862;7185938 Acvr2b;D10S16;D1S3693;MARC_4816-4817:991938566:3;PMC202382P2;RH65433;RH99151;STS-N30308;ksks333;ksks390 ACTRIIB;ActR-IIB;HTX4;MGC116908 OTTHUMP00000161965;activin receptor type-2B APPROVED protein-coding 174 04106 602730;613751 REVIEWED 1344501 AD2 Alzheimer disease 2 (APOE*E4-associated, late onset) 7240710 182 104310;269600;603075;611771 731811 ACVR2A activin A receptor, type IIA This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013] 2 2 q22.3 148319040 148404863 + 148602570 148688393 + 1580863;1559169;2301061;2301065;2317217;2325239;6480464;6907045 12770730;16337854;14988818;9714055;9076583 16982625;19503063;19574343;20011542;20197483;20200332;20379614;20424473;14691305;12667445;12651901;12477932;12385827;12213882;12135884;12032389;11969340;11882656;11266516;11069203;10702675;10681527;10638976;10504300;10323406;10187774;9872992;9748228;8702914;8640777;8622651;8612709;8243335;8242742;1646080;1311955;9892009;9202237;9032295;12665502;10746731;7890768;18436533;14738881;1314589;17356069;19308291;19126782;19064572;18941508;18781190;18001154;17472960;17456004;17258738;16672363;16380996;15815621;15621726;15489334;15451561;20339536;22296042;20634197;20734064;22723898;19366699;21139048;21906983;22001236;16344560;16461635;19386982;20801928;20886391;21353880;21378277;21490791;21976273;22085900;22528352;22848350;22949641;8358434;8889548;8889549;8971337;15123239;23263486 92 B4DWQ2;P27037 AA125825;ABBA01028014;ABBA01028015;ABBA01028016;AC009480;AK301629;AK314124;AMYH01011152;AMYH01011153;AW162986;BC067416;BC067417;BC067418;BC069707;BG616903;BM503220;BU676046;BX645435;CH471058;D31770;DA531622;DN918410;JA738723;M93415;NM_001278579;NM_001278580;NM_001616;T07746;W03601;X62381;X63128 AAA35504;AAH67417;AAH67418;AAH69707;AAX93050;BAA06548;BAG36815;BAG63114;CAA44245;CAA44839;CCF77014;EAX11561;EAX11562;NP_001265508;NP_001265509;NP_001607;P27037 Hs.470174 1650600;1686654;1727823;1784322;2182105;2191369;5015988;5021718 Acvr2a;G63177;MARC_17905-17906:1025019334:1;RH68541;RH98206;SHGC-83971;STS-X62381;ksks388 ACTRII;ACVR2 OTTHUMP00000197917;OTTHUMP00000197918;activin receptor iia;activin receptor type-2A APPROVED protein-coding ENSG00000121989 173 00025 102581 REVIEWED 1603401 AD7C-NTP neuronal thread protein AD7c-NTP This gene is unusual in that its coding sequence is derived almost entirely from a cluster of different Alu repeat sequences. However, the mRNA and the encoded protein have been shown to be expressed in neurons, and overexpressed in brains with Alzheimer's disease. In vitro studies also demonstrated that abnormal expression of this gene promoted neuritic sprouting and cell death, associated with dementia in Alzheimer's disease. p36 9399956;15652152;15346770;11897561 27308 O60448 AF010144 AAC08737;O60448 AD7CNTP protein-coding 07595 1345672 AD5 Alzheimer disease 5 7240710 9333264;10712207 8081 1298109;1335012;7186564 D12S1045;D12S98 185 104300 1352202 ACY3 aspartoacylase (aminocyclase) 3 11 11 11 q13.2 64744479 64752583 - 67166602 67174706 - 67410026 67418130 - 1580863;6480464;6907045 15489334;14656720;12477932;19664597;19486448;17207965 91703 E9PRA7;Q96HD9 ABBA01024026;AF359506;AMYH01003748;AP003385;AY032593;AY040761;AY169233;BC008689;CH471076;NM_080658 AAH08689;AAK51135;AAK94770;AAM00248;AAN87896;ADQ32340;EAW74663;EAW74664;NP_542389;Q96HD9 Hs.126265 1339809 D11S4155 ACY-3;HCBP1;MGC9740 HCV core-binding protein 1;OTTHUMP00000235614;OTTHUMP00000235615;acylase III;aminoacylase-3;aspartoacylase-2;hepatitis C virus core-binding protein 1 protein-coding ENSG00000132744 24104 12422 614413 VALIDATED 7174907 ADAD1P1 adenosine deaminase domain containing 1 (testis-specific) pseudogene 1 3 39328225 39329389 + 100422386 ABBA01024808;AC092053;AMYH01013099;NG_025689 pseudo 44550 INFERRED 1351880 ACY1 aminoacylase 1 This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010] 3 3 p21.1 51992603 51998258 + 52017300 52023218 + 1298689;1580863;6480464;6907045;7240710 1707030 8394326;18341290;17045186;16465618;16274666;16189514;15489334;12933810;12477932;8357837;6948533;2542383;11154063;11250542;12548635;15028279;15927344;15953868;16313167;16404153;16889417;16962797;17516490;17562838;20480396;2745715;373141;6248297;6781469;6803586;7974002;21414403;21128244;21832049;21906983;21987572;21044950;21963094;21988832;23317546 95 B4DNW0;C9JYZ0;F8WC59;Q03154 ABBA01024516;AC115284;AK298274;AMYH01013181;BC000545;BC003023;BC014112;BE269642;CD014023;CD014026;CD014027;CH471055;D14524;D16307;L07548;NG_012036;NM_000666;NM_001198895;NM_001198896;NM_001198897;NM_001198898 AAA02852;AAH00545;AAH03023;AAH14112;ABM82834;ABM87833;BAA03397;BAA03814;BAG60535;EAW65181;NP_000657;NP_001185824;NP_001185825;NP_001185826;NP_001185827;Q03154 Hs.334707 1658480;1683279;1740227;1743077;1788704 D3S1660;GDB:251741;RH11608;RH135818;RH66446 ACY-1;ACY1D;ACYLASE ACY-1;N-acyl-L-amino-acid amidohydrolase;OTTHUMP00000212459;OTTHUMP00000212462;OTTHUMP00000212463;OTTHUMP00000212464;OTTHUMP00000212465;OTTHUMP00000220363;acylase;aminoacylase-1 APPROVED protein-coding ENSG00000114786;ENSG00000243989 177 00092 104620;609924 REVIEWED 7174904 ADAD1P2 adenosine deaminase domain containing 1 (testis-specific) pseudogene 2 18 47590162 47590856 + 100422407 ABBA01018667;AC091044;AMYH01008993;NG_026329 pseudo 44552 INFERRED 737253 ACVRL1 activin A receptor type II-like 1 This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008] 12 12 q13.13 50587469 50603412 + 52301202 52317145 + 1580863;1598736;1300352;1601117;1300250;1601116;1559169;5128837;5128842;6480464;6484113;7240710 11586351;15024723;14684682;11062473;17392319;12770730;20056902;20228181 17219009;22493445;16752392;12453878;17068149;12393874;15702480;18029348;19508727;19494318;19366699;19270816;19051722;18972447;18949376;18855162;18829861;18673552;18607909;18543223;18498373;18333754;18312453;18309101;18285823;18187665;18159113;18065769;17786384;17620321;17388964;17311849;17224686;12065756;8242742;11279102;11278302;11170071;10767348;10716993;10694922;10187774;9651680;9245985;8928814;8717052;8640225;8397373;16941203;16861286;16785228;16776339;16705692;16542389;16540754;16525724;16470589;16429404;16179574;15951295;15880681;15712271;15712270;15687131;15611116;15517393;15489334;14702039;14580334;12920067;12477932;12114496;11484689;11356828;20587022;20501893;21158752;22799562;11266516;16049014;18974388;19357124;19506300;19592636;19903896;20065063;20346360;20424473;20124460;20414677;19913121;20628086;20734064;21212415;23048070;21546842;21967607;21791611;22028876;22233626;20301525;22013081;23124896;23263486;22277251;22677372;22718755;19758997;21465483;22391627;22632830;23447486 94 D9IPD9;E7EN07;F8W0N2;G3V1W8;H3BTZ2;P37023 A38805;ABBA01031620;AC025259;AK056725;AK298493;AK300619;AK303331;AMYH01004469;BC042637;CH471111;DN999570;HM161905;HM161906;L17075;NG_009549;NM_000020;NM_001077401;U77707;U77708;U77709;U77710;U77711;U77712;U77713;Z22533 AAA16160;AAB61900;AAH42637;ADJ79922;ADJ79923;ADZ15645;BAG60701;BAG62312;BAG64396;CAA02404;CAA80255;EAW58211;EAW58212;EAW58213;EAW58214;NP_000011;NP_001070869;P37023 Hs.591026 1337891;1747707;1776096;1855039;5107054;5107056;5107058;5107060;7186559 D12S1677;D12S2187;D12S2188;D12S2189;D12S2190;G64249;RH46550;STS-T96544 ACVRLK1;ALK-1;ALK1;HHT;HHT2;ORW2;SKR3;TSR-I OTTHUMP00000241377;OTTHUMP00000241379;TGF-B superfamily receptor type I;activin A receptor, type II-like kinase 1;activin receptor-like kinase 1;serine/threonine-protein kinase receptor R3 APPROVED protein-coding ENSG00000139567 175 03181 600376;601284 REVIEWED 1351089 ACYP1 acylphosphatase 1, erythrocyte (common) type Acylphosphatase is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase, on the basis of their tissue localization. This gene encodes the erythrocyte acylphosphatase isoenzyme. Alternatively spliced transcript variants that encode different proteins were identified through data analysis. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 55557594 55568402 - 74589677 74600489 - 75519924 75530736 - 1298556;1580863;6480464;6907045 7796909 3026468;15489334;14992377;12508121;12477932;12409302;9730610;2169259;1645713;21832049;21890473;21906983 97 G3V2U7;G3V3F8;G3V597;P07311 ABBA01030707;AC007055;AK312101;AL049780;AMYH01005857;AW390293;BC035568;BE467248;BG614847;BX104912;CH471061;NM_001107;NM_203488;X84194 AAD31937;AAH35568;BAG35037;CAA58987;EAW81216;NP_001098;NP_982355;P07311 Hs.18573 1740671;1856698;2107813;2167671 A007H05;ACYP1_8191;D14S1172;RH70143 ACYPE OTTHUMP00000246802;OTTHUMP00000246804;OTTHUMP00000246805;acylphosphatase, erythrocyte isozyme;acylphosphatase, organ-common type isozyme;acylphosphatase-1;acylphosphate phosphohydrolase 1 APPROVED protein-coding ENSG00000119640 179 02928 600875 REVIEWED 1350765 ACYP2 acylphosphatase 2, muscle type Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. [provided by RefSeq, Jul 2008] 2 2 p16.2 54195914 54385941 + 54342410 54532437 + 1580863;6480464;6907045 22522822;8268218;18809411;18649358;16084386;15670608;15489334;12477932;12409302;11799398;10542090;9395090;9070879;7796909;7487897;6100723;3026468;19851296;20198315;20379614;21658281;20877624 98 E9PF46;F8WA34;P14621 ABBA01075249;ABBA01075250;ABBA01075251;ABBA01075252;AC008280;AC073879;AC092622;AC108929;AK307096;AMYH01010357;AMYH01010358;AMYH01010359;BC012290;BF739886;CA308062;CH471053;NM_138448;X84195 AAH12290;AAX88874;AAY14721;CAA58988;EAX00152;EAX00153;EAX00154;EAX00155;EAX00156;EAX00157;NP_612457;P14621 Hs.516173;Hs.642983 1681482;1698536;1720095;1752025;1753523;1784272;2107815;2163248 ACYP2_8192;RH102819;RH123789;RH35993;RH92612;SHGC-105943;SHGC-107444;SHGC-172627 ACYM;ACYP OTTHUMP00000159620;OTTHUMP00000200601;OTTHUMP00000200602;acylphosphatase, muscle type isozyme;acylphosphatase-2;acylphosphate phosphohydrolase 2 APPROVED protein-coding ENSG00000170634 180 00028 102595 REVIEWED 1605272 ADAL adenosine deaminase-like 15 15 15 q15.3 20393719 20416958 + 41410217 41428902 + 43622872 43646096 + 6480464 12477932;21755941;23645737 161823 H3BQR9;H3BUD6;Q6DHV7 ABBA01038350;AC009852;AC018924;AK126583;AK298870;AMYH01006589;BC075857;BQ015642;BX647599;CA436653;CH471125;NM_001012969;NM_001159280 AAH75857;BAG54348;BAG60990;EAW92598;EAW92599;NP_001012987;NP_001152752;Q6DHV7 Hs.533913 1671677;5015879;5022588;5094004 A010A25;D5S1597E;G33049;GDB:314949 DKFZp313B2137;FLJ44620 adenosine deaminase-like protein protein-coding ENSG00000168803 31853 11779 VALIDATED 1606972 ADAD1 adenosine deaminase domain containing 1 (testis-specific) 4 4 4 q27 120683547 120734368 + 123519618 123570389 + 123300121 123350947 + 6480464 19302705;18311140;17558408;16344560;14702039;12477932;9541871;7543294;20549515;20553587;17554300;19523143;21297633;21829393 132612 C9JAT9;C9JGM6;Q96M93 ABBA01044734;ABBA01044735;AC022489;AK057303;AK093297;AMYH01014492;BC040229;CH471056;DB027040;DB040584;DB058857;DB059180;HC007332;NM_001159285;NM_001159295;NM_139243 AAH40229;ABM84128;ABM84129;ABM87529;ABM87530;BAB71416;BAC04125;CBH19471;EAX05228;EAX05229;EAX05230;EAX05231;EAX05232;EAX05233;EAX05234;NP_001152757;NP_001152767;NP_640336;Q96M93 Hs.518957 FLJ32741;Tenr OTTHUMP00000196372;OTTHUMP00000196373;OTTHUMP00000196374;adenosine deaminase domain-containing protein 1;testis nuclear RNA-binding protein protein-coding ENSG00000164113 30713 15594 614130 VALIDATED 6771240 ADAM12-OT1 ADAM12 overlapping transcript 1 (non-protein coding) q26.2 14702039;20404130 100967225 AK055628 Hs.594351 1651064;1665233;1774738 A006V29;D10S2377;RH15686 CAR10 miscrna 43841 1351482 ADAM14 a disintegrin and metalloproteinase domain 14 8752 192 1342889 ADAM13 a disintegrin and metalloproteinase domain 13 8753 191 1316754 ADAM11 ADAM metallopeptidase domain 11 This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene represents a candidate tumor supressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. [provided by RefSeq, Jul 2008] 17 17 17 q21.3 39547073 39569717 + 40192094 40214740 + 42836568 42859214 + 1580863;6480464 9693107;8252040;15203218;15146197;14759258;12477932;11545539;11076863;7956356;7593158;16169070 4185 AAB29191;B4DKD2;H7BY08;K7EKA8;O75078 AB009675;ABBA01028347;ABBA01028348;ABBA01028349;AC005180;AK296512;AMYH01008428;AMYH01008429;BC144550;CD630831;CD630842;CH471178;CN418442;D17390;D31872;NM_002390 AAB29191;AAI11917;BAA04213;BAA06670;BAA06671;BAA32352;BAG59144;EAW51578;EAW51579;EAW51580;NP_002381;O75078 Hs.6088 1654822;1795290;2127169;2145086;2148629;2149123;5114648;5491296 ADAM11_63;D17S1926;D17S2062;MARC3917-3918;RH18285;RH47484;RH68208;WI-18788 MDC ADAM 11;a disintegrin and metalloproteinase domain 11;disintegrin and metalloproteinase domain-containing protein 11 APPROVED protein-coding ENSG00000073670 189 01114 155120 REVIEWED 1345025 ADAM16 a disintegrin and metalloproteinase domain 16 8750 194 736149 ADA adenosine deaminase This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008] 20 20 q13.12 42681577 42713790 - 43248163 43280376 - 1304201;1300251;1300353;1624289;1624292;1624286;1624305;1624309;1624290;1580863;1300048;2313538;2313539;2313540;5128859;5128842;5128858;5128847;5128848;5128861;5128854;5128856;5128857;5128845;6480464;6907045;7240710 6090454;9478961;8227344;16501670;9605386;17259686;16641873;15969953;12472193;19166862;15168879;9784839;21161045;20228181;21320715;16860713;16754522;20809996;12194640;10410539;9255891;18561952 12809673;12774669;12712614;12477932;12381379;12150791;12113294;12104097;11901152;11780052;11534018;11354825;11125033;11121182;10506947;9674425;9414266;9299436;9247966;9225964;9154805;8589684;8299233;8242080;8125298;8031011;7570001;7371221;6688808;6546794;6526272;6208479;6198240;3839802;3839456;3838797;3560174;3348976;3028473;3010705;2783588;2770711;3182793;8452534;9361033;11999881;16670267;7594462;14684150;7599635;8894685;11772392;7759315;19470168;19237091;19172437;19086053;19019667;18794722;18768081;18680557;18673094;18597230;18562134;18560234;18357489;18302529;18222177;18218852;17696452;17536804;17397971;17340203;17287605;17243920;17181544;16970880;16886895;16724628;16410722;16224193;16221767;16133068;15983379;15761857;15632314;15489334;15281007;15257174;15063762;15016824;14726805;12935677;1856451;1807098;1696926;1284479;11278278;10899322;9330696;9103436;21919946;21365880;20347569;21269755;20651391;20581655;22614344;18029348;19026999;19628957;19633200;19668260;19703146;19789510;19845893;19901882;20147632;20174870;20180986;20306731;20392501;20414589;20480728;20522203;8101391;20548128;19521708;21198750;19913121;20453107;20554694;20590444;20615890;20628086;20872567;20805743;20943049;20301656;20959412;21496384;20412337;22952909;20836741;21359089;21593678;21725047;22086524;22257696;21860532;22184407;21640091;21865054;21906983;21044950;22104430;23193172;21734253;22719194;21988832;23128233;23240012;21461854;21350874;21856036;22505724;23066321;22942500 100 F5GWI4;F5GXW0;F5GYD4;P00813 ABBA01052645;ABBA01052646;AK123988;AK223397;AL139352;AL832305;AMYH01011934;BC007678;BC040226;BI601734;CH471077;HH769637;HH769781;M13792;NG_007385;NM_000022;X02189;X02190;X02994;Z97053 AAA78791;AAH07678;AAH40226;ABM83607;ABM86850;BAD97117;CAA26130;CAA26734;CBX85542;CBX85614;EAW75904;EAW75905;EAW75906;EAW75907;NP_000013;P00813 Hs.654536 1668271;1741129;1741141;1741143;1741367;1741409;1741413;1743909;1743911;1744831;1744833;1791416;2114006;2115173 ADA;AL023480;D20S1110;GDB:177907;GDB:178379;GDB:178380;GDB:180925;GDB:181143;GDB:181184;GDB:375441;GDB:375467;GDB:568809;GDB:568814;PMC109465P1 OTTHUMP00000031785;OTTHUMP00000240459;OTTHUMP00000240461;adenosine aminohydrolase;adenosine deaminase APPROVED protein-coding ENSG00000196839 186 00038 102700;608958 REVIEWED 1602291 ADAD2 adenosine deaminase domain containing 2 16 16 16 q24.1 68526534 68532570 + 82782245 82788273 + 84224723 84230772 + 16344560;14702039;12477932;8889548;21832049;22589738 161931 H3BNP6;Q8NCV1 ABBA01016918;AC009123;AF447586;AK093046;AK093523;AK131102;AK315171;AMYH01007867;BC033491;BU731201;CH471114;DB036324;NM_001145400;NM_139174 AAH33491;AAM22869;ADZ15469;BAC04032;BAC85152;BAG37613;EAW95491;EAW95492;EAW95493;EAW95494;NP_001138872;NP_631913;Q8NCV1 Hs.8977 5020948 G35510 FLJ00337;TENRL OTTHUMP00000174989;adenosine deaminase domain-containing protein 2;testis nuclear RNA-binding protein-like protein-coding ENSG00000140955 30714 14107 VALIDATED 735847 ADAM10 ADAM metallopeptidase domain 10 Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. [provided by RefSeq, Jul 2008] 15 15 q22 56675802 56829469 - 58888510 59042177 - 1300252;1580863;2302204;1559151;2317976;5129489;6480464;5686846;6484113;6907045 12354787;17761886;15950787;15688065;20621845;21145125 9016778;8694785;18676862;12714508;11831872;18373975;12475894;19541935;19435795;19394555;19357285;19344981;19278423;19260824;19144697;19091752;18981120;18979631;18971959;18952609;18642355;18603587;18514661;18480749;18420943;18381078;18355445;18215140;18200054;18074395;17965014;17895248;17727679;17699774;17557115;17290285;17187903;16942750;16806063;16751190;16735514;16648485;16627989;16390331;16309826;16263699;16263114;16239146;15958533;15905513;15507448;15300588;15280425;15280379;15182369;14707550;14702039;14636066;14627705;12960155;12832423;12815056;12794186;12782344;12730960;12665519;12629514;12590602;12568494;12535668;12477932;12438920;12176995;12080182;11839628;11786905;11511685;11477090;10958785;10737800;10423016;9618175;9441766;9344679;9305925;7822279;7593158;11741929;21103979;21196064;20070888;10527948;19564338;19587294;19603142;19608551;19632330;19665015;19667218;19672558;19704010;19783906;19823572;19826051;19865098;20059578;20136654;20348102;20371803;20381196;20711474;20443867;20624979;20676056;20814017;19913121;20628086;20677014;21259244;17192395;20863729;21123580;21171968;21368228;22965144;21969210;21695060;21441465;21402705;21611732;22939629;23035126;21569301;21576249;21956108;21804545;18781797;22116825;21876729;21625236;19114711;19426159;22167753;22474035;22586143;22770404;23674691;23676497;21906983;22006996;22065584;21959176;22689693;17170699;23192951;22641052;22613720;22933306;23460612;22923171;22940701;23546882;22505724;22572541;23124962 102 B4DU28;B5MC71;C9J9B4;H0YK32;H0YK87;H0YNC5;H3BS53;O14672 ABBA01038983;AC018904;AC091046;AF009615;AK023460;AK300472;AMYH01006679;AMYH01006680;AMYH01006681;BC055087;BC104659;BC126253;BC143935;BE934813;BX372217;CH471082;NM_001110;Z48579 AAC51766;AAI26254;BAG62190;CAA88463;EAW77539;EAW77540;EAW77541;NP_001101;O14672 Hs.578508 1339275;1646218;1678519;1706564;1736474;1758819;1773329;1795288;2124869;2127507;2172931;2179379;5019637;7190661;7190665 A002R12;ADAM10_1576;D15S1248;D15S148;D15S686E;G32289;RH17532;RH45136;RH45644;RH45709;RH66959;SHGC-150627;SHGC-81261 AD10;CD156c;HsT18717;MADM;kuz ADAM 10;CDw156;OTTHUMP00000163471;OTTHUMP00000165066;a disintegrin and metalloprotease domain 10;a disintegrin and metalloprotease domain 10;a disintegrin and metalloproteinase domain 10;disintegrin and metalloproteinase domain-containing protein 10;kuzbanian protein homolog;mammalian disintegrin-metalloprotease APPROVED protein-coding 188 03723 602192 REVIEWED 6898435 ADAM1B ADAM metallopeptidase domain 1B, pseudogene 12 112364998 112366738 + 6480464 100420505 ABBA01019917;AC003029;AMYH01004752;NG_024129 pseudo 44366 INFERRED 1345474 ADAM1A ADAM metallopeptidase domain 1A, pseudogene 12 12 12 q24.13 111962428 111965067 + 110821350 110823989 + 112336867 112339706 + 6480464 9032439;10524237;11784061;16344560 8759 ABBA01019915;AC003029;AMYH01004752;CA427398;DA031170;NR_036636;Y09232 Hs.661708 ADAM1;ADAM1P;FTNAP;Ftna;PH-30a ADAM metallopeptidase domain 1 (fertilin alpha) pseudogene;a disintegrin and metalloproteinase domain 1 (fertilin alpha) pseudogene APPROVED pseudo 187 VALIDATED 1317265 ADAM12 ADAM metallopeptidase domain 12 This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene has two alternatively spliced transcripts: a shorter secreted form and a longer membrane-bound form. The shorter form is found to stimulate myogenesis. [provided by RefSeq, Jul 2008] 10 10 q26.3 127693415 128067055 - 127702898 128077127 - 1625347;1559174;1580863;2317976;6480464;6484113 15334463;15910695;15688065 7566181;19278423;19268722;19040574;19003798;18978109;18801731;18621736;18604515;18519826;18395873;18382998;18365756;18342566;18311789;18264967;18264948;18241035;18081311;17987603;17846126;17701664;17620406;17465398;17440933;16869727;16495931;16455653;16453284;16344560;16213489;16139919;15930294;15574885;15509542;15381692;15364951;15358598;15242759;14691998;12975309;12952982;12915587;12717386;12615925;12477932;12000744;12000741;11313349;11127814;11095942;10944520;10849447;10831617;10788519;22662180;9642263;9417060;15280379;21258805;20509156;20509157;21330122;20090292;20187159;20457602;20230315;11786904;15574124;16385451;19213876;19544290;19544357;19609547;19736612;19769962;19837132;20218926;20379614;20305677;21103624;21034452;21173277;21493715;21277576;20688878;21518768;22927907;23421942;22808268;21240579;18029348;22589738;21617380;22015022;22089237;21501859;22678798;21875931;22267082;22284607;22926263;22903068;23135915;22676623;22767580;22882974;23458101;23319000;23400010;23589494 8038 A8K6G4;O43184;Q5JRP2 ABBA01034174;ABBA01034175;ABBA01034176;ABBA01034177;ABBA01034178;ABBA01034179;AC022015;AC026226;AC063963;AF023476;AF023477;AK127856;AK291629;AL589787;AL691463;AMYH01003164;AMYH01003165;AMYH01003166;AMYH01003167;AMYH01003168;AY358878;BC060804;CB960379;CH471066;DA027173;DA863951;DR004947;HC006764;NG_029050;NM_003474;NM_021641 AAC08702;AAC08703;AAH60804;AAQ89237;BAF84318;CBH19188;EAW49205;EAW49206;EAW49207;EAW49208;EAW49209;NP_003465;NP_067673;O43184 Hs.594351 1340657;1644271;1651064;1651373;1659473;1665233;1669678;1674232;1690095;1696002;1712312;1713085;1739489;1751909;1772796;1795292;1853879;2126780;2138111;2139505;2158822;2158850;2176161;7187841 A006V29;A008K16;ADAM12_693;D10S1602;D10S575;D9S2055;G17495;G31019;G54065;RH120330;RH15686;RH44497;RH44607;RH69950;RH91967;SHGC-105790;SHGC-33384;SHGC-35931;SHGC-82769;WI-17464;WI-17472;WI-17697;WI-18158 MCMP;MCMPMltna;MLTN;MLTNA OTTHUMP00000020726;OTTHUMP00000020727;disintegrin and metalloproteinase domain-containing protein 12;meltrin-alpha APPROVED protein-coding ENSG00000148848 190 04092 602714 REVIEWED 1345289 ADAM20P1 ADAM metallopeptidase domain 20 pseudogene 1 14 14 14 q24.2 50998968 51002976 - 70004761 70008769 - 70935593 70950473 - 10524237 317760 ABBA01030812;AF158638;AL357153;AMYH01005828;AMYH01005829;BC047939;NR_037933 Hs.188369 2113876 AB070079 C14orf55 APPROVED pseudo ENSG00000259158 20102 VALIDATED 6482992 ADAM20P2 ADAM metallopeptidase domain 20 pseudogene 2 4 176495753 176497344 + 100533671 ABBA01070404;AC105925;AMYH01014728;NG_028850 pseudo 43901 INFERRED 6482940 ADAM20P3 ADAM metallopeptidase domain 20 pseudogene 3 4 q35.2 188667288 188669359 - 20210993;9847074 644325 ABBA01070581;AC115540;AMYH01014786;NG_023541 pseudo 43902 INFERRED 1345378 ADAM20 ADAM metallopeptidase domain 20 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene is testis-specific. [provided by RefSeq, Jul 2008] 14 14 14 q24.1 51053033 51065687 - 70058831 70071485 - 70989078 71001732 - 1580863;6480464 9469942;12477932;11807715;10524237 8748 O43506 AA400588;ABBA01030812;AF029899;AF158643;AL357153;AMYH01005829;BC025378;CH471061;HC006766;HC044543;NM_003814 AAC52041;AAD55254;AAH25378;ABW03729;CBH19189;CBH30601;EAW81037;NP_003805;O43506 Hs.177984 1699656;1795298 ADAM20_695;RH103432 ADAM 20;OTTHUMP00000236151;a disintegrin and metalloproteinase domain 20;disintegrin and metalloproteinase domain-containing protein 20 APPROVED protein-coding ENSG00000134007 199 04754 603712 REVIEWED 733223 ADAM15 ADAM metallopeptidase domain 15 The protein encoded by this gene is a member of the ADAM (a disintegrin and metalloproteinase) protein family. ADAM family members are type I transmembrane glycoproteins known to be involved in cell adhesion and proteolytic ectodomain processing of cytokines and adhesion molecules. This protein contains multiple functional domains including a zinc-binding metalloprotease domain, a disintegrin-like domain, as well as a EGF-like domain. Through its disintegrin-like domain, this protein specifically interacts with the integrin beta chain, beta 3. It also interacts with Src family protein-tyrosine kinases in a phosphorylation-dependent manner, suggesting that this protein may function in cell-cell adhesion as well as in cellular signaling. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 1 1 q21.3 153290386 153301876 + 155023748 155035252 + 1559176;2325247;6480464 15818704;17465204 10531379;9516430;19487280;19253070;19207106;19054571;18695922;18434311;18387333;18296648;18281484;17937806;17575078;17416588;17080222;16894352;16756724;16303743;15756594;15618016;15489334;15384173;15358598;15263807;14707550;12897135;12858436;12777399;12615925;12477932;12243749;12091380;11882657;11840679;11839628;11741929;10842103;10828588;10652535;9914169;9039960;9016778;8889548;8617717;10527948;16189514;15280379;22621184;16374509;19550037;19718658;20213810;18774960;20189953;20851104;21196774;21728902;21190186;21906983;22544741;21987572;22505472;21963094;23000965;23365087 8751 A6NG98;B4DMH8;Q71S68 AB209157;ABBA01016720;AF314227;AK000667;AK075498;AK295614;AK296925;AK297468;AK308172;AL451085;AL691442;AMYH01001424;AW290953;AY518542;AY560593;AY560594;AY560595;AY560596;AY560597;AY560598;AY560599;AY560600;AY560601;AY576417;BC014566;BM971880;BT009764;NG_029667;NM_001261464;NM_001261465;NM_001261466;NM_003815;NM_207191;NM_207194;NM_207195;NM_207196;NM_207197;NR_048577;NR_048578;NR_048579;U41767;U46005 AAC50404;AAC51112;AAH14566;AAM44189;AAP88766;AAR99331;AAS48590;AAS48591;AAS48592;AAS48593;AAS48594;AAS48595;AAS48596;AAS48597;AAS72298;AAS72991;AAS72992;AAS72993;AAS72994;AAS72995;AAS72996;AAS72997;AAS72998;AAS72999;AAS73000;ABW03624;BAD92394;BAG52157;BAG59477;BAG59890;BAH12126;NP_001248393;NP_001248394;NP_001248395;NP_003806;NP_997074;NP_997077;NP_997078;NP_997079;NP_997080;Q13444 Hs.312098 2185149 RH66543 MDC15 ADAM 15;MDC-15;OTTHUMP00000015780;OTTHUMP00000033236;OTTHUMP00000231570;OTTHUMP00000231571;OTTHUMP00000231572;OTTHUMP00000231573;OTTHUMP00000231574;OTTHUMP00000231575;OTTHUMP00000231576;OTTHUMP00000231577;OTTHUMP00000231578;a disintegrin and metalloproteinase domain (adam) 15 (metargidin);a disintegrin and metalloproteinase domain 15 (metargidin);disintegrin and metalloproteinase domain-containing protein 15;metalloprotease RGD disintegrin protein;metalloproteinase-like, disintegrin-like, and cysteine-rich protein 15;metargidin APPROVED protein-coding ENSG00000143537 193 05674 605548 REVIEWED 1350533 ADAM18 ADAM metallopeptidase domain 18 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a sperm surface protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 8 8 8 p11.22 38393916 38539440 + 39561299 39706644 + 39442087 39587583 + 1580863;6480464 10395895;15489334;12975309;12477932;12200459;9665629;8125298;20379614;16344560;22174851 8749 E5RIP0;E5RK96;Q0VAI3;Q9Y3Q7 ABBA01015910;AC109633;AC136365;AJ133004;AK225744;AK313961;AMYH01018657;AY358321;BC034624;BC070279;BC121045;BC121046;CH471080;DB049415;NM_001190956;NM_014237 AAH34624;AAH70279;AAI21046;AAI21047;AAQ88687;BAG36677;CAB40812;EAW63276;EAW63277;NP_001177885;NP_055052;Q9Y3Q7 Hs.127930 1336965 DXS1222 ADAM27;MGC41836;MGC88272;tMDCIII ADAM 18;OTTHUMP00000225672;OTTHUMP00000225673;OTTHUMP00000225674;OTTHUMP00000225676;a disintegrin and metalloproteinase domain 18;disintegrin and metalloproteinase domain-containing protein 18;disintegrin and metalloproteinase domain-containing protein 18; putative ADAM18 gene product;putative ADAM18 gene product;tMDC III;transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein III APPROVED protein-coding ENSG00000168619 196 07469 REVIEWED 69085 ADAM2 ADAM metallopeptidase domain 2 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] 8 8 8 p11.2 38553126 38647899 - 39720411 39814936 - 39601254 39695779 - 1580863;68863;6480464 9358007 9041139;18292840;15489334;12477932;11882657;11784061;10518536;9889149;9070941;8702389;16049941;17023585;19951893;22926424 2515 B4DWY7;Q6P2G0;Q99965 ABBA01015910;AC136365;AJ133005;AK301734;AMYH01018657;AP005902;BC034957;BC064547;BG719616;BI460477;CH471080;HC044539;NM_001278113;NM_001278114;NM_001464;U38805;U52370;X99374 AAC51110;AAD04206;AAH34957;AAH64547;ABM82541;ABM85733;BAG63199;CAA67753;CAB40813;CBH30599;EAW63273;EAW63274;EAW63275;NP_001265042;NP_001265043;NP_001455;Q99965 Hs.177959 1749951;2129898;2216984 ADAM2_2713;RH70674;SHGC-111659 CRYN1;CRYN2;CT15;FTNB;PH-30b;PH30;PH30-beta ADAM 2;OTTHUMP00000225677;OTTHUMP00000225678;OTTHUMP00000225679;OTTHUMP00000225680;PH-30;PH30-beta;cancer/testis antigen 15;disintegrin and metalloproteinase domain-containing protein 2;fertilin beta;fertilin subunit beta APPROVED protein-coding ENSG00000104755 198 03322 601533 REVIEWED 735923 ADAM19 ADAM metallopeptidase domain 19 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer's disease. [provided by RefSeq, May 2013] 5 5 q33.3 156836890 156935346 - 156904312 157002783 - 1580863;1559267;2317976;6480464 14673146;15688065 21239057;19079262;18714391;17112471;16827870;15896713;15242783;14702039;12682046;12477932;12463424;12393862;12058067;12006600;11708814;11162584;11116142;10887142;9806848;9461614;8358434;10531379;20889312;18458692;19423540;19727588;20010835;20406964;20438785;20460109;21270819;14719095;16772875;19601835;23000965;23429442;23284291 8728 E5RIS2;E7ENW4;E9PD32;H0YC66;Q8TBU7;Q9H013 ABBA01044269;ABBA01044270;AC008676;AC008694;AC106801;AF134707;AF311317;AF326918;AK091464;AK093535;AK308182;AL049415;AMYH01015748;BC024214;BC033132;CH471062;HY088077;NM_033274;Y13786 AAF22162;AAG50282;AAH24214;AAH33132;AAI40324;AAK07852;BAG52367;CAC20585;EAW61595;EAW61596;EAW61597;EAW61598;NP_150377;Q9H013 Hs.483944 1697526;1731140;1785364;1788740;1795296;2163180 ADAM19_1480;D5S378;RH102268;RH128156;RH48594;SHGC-112298 FKSG34;MADDAM;MLTNB ADAM 19;ADAM metallopeptidase domain 19 (meltrin beta);OTTHUMP00000160734;OTTHUMP00000224162;a disintegrin and metalloproteinase domain 19 (meltrin beta);disintegrin and metalloproteinase domain-containing protein 19;meltrin beta;meltrin-beta;metalloprotease and disintegrin dendritic antigen marker;metalloprotease-disintegrin meltrin beta APPROVED protein-coding ENSG00000135074 197 04704 603640 REVIEWED 731400 ADAM17 ADAM metallopeptidase domain 17 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene functions as a tumor necrosis factor-alpha converting enzyme; binds mitotic arrest deficient 2 protein; and also plays a prominent role in the activation of the Notch signaling pathway. [provided by RefSeq, Jul 2008] 2 2 p25 9546843 9613368 - 9629392 9695917 - 1559178;1580863;1300253;2292150;2313250;2302204;2312470;2317976;5129489;5686834;5686846;6480464;6484113;6907045 15878627;9812885;12655295;19581416;17761886;19633828;15688065;20621845;22029668;21145125 20871631;21175594;15308656;15182369;15146197;15102849;15066987;14625290;14532978;12972643;12947092;12832423;12810728;12755693;12730960;12714588;12711607;12706122;12668732;12621058;12606576;12568494;12535668;12477932;12474981;12441351;12147693;12135369;12058067;12207026;14970227;16034137;10527948;12743035;18373975;18483258;18625725;17786981;18276953;18383040;17010968;9034190;19541935;19435795;19324423;19298600;19296470;19278423;19253070;19171023;19154693;19150341;19124506;19091752;19082505;18979631;18978678;18922903;18824549;18818406;18713734;18676862;18638486;18636124;18600307;18493210;18490652;18442814;18426733;18396294;18355445;18281553;18238782;18171982;18167350;17999917;17942404;17714581;17608729;17438092;17405915;17360351;17227756;17155946;17081983;16982746;16942750;16912185;16900751;16806063;16641105;16478662;16376986;16336275;16332693;16279945;16246259;16210695;16179345;16148149;16079149;15983030;15784625;15691827;15337756;15309730;12044879;11988096;11733179;10882063;10860581;10433800;10224132;9806848;9620803;9574564;9520379;9034191;8889548;11741929;15280379;22105359;22506015;22665490;22677042;21932060;22319627;22770404;19913121;20627730;20628086;20634891;18029348;10799478;11823465;15534001;16619241;17655843;17986144;19299578;19376560;19482949;19515085;19535569;19564338;19595713;19666115;19704010;19762488;19772640;19819120;19843672;19875451;19949420;19959661;20026129;20059578;20070837;20118276;20180536;20184396;20188673;20221248;20300049;20379614;9774383;9920899;20679348;20551051;20359533;20819075;19003995;12777399;20506406;20807704;21102583;20863729;21268712;21170088;20922190;21300824;20811902;22668812;22933306;22965144;23105116;22967992;23460612;23487023;21423656;21407195;21359495;21386996;23674691;21777519;21365281;21240579;20300969;22010916;21865167;21949123;21925169;21837402;21153921;21480393;21890473;21906983;22367719;22384041;22438584;22550340;22927435;22157716;21501859;22575642;22018416;22200661;22689693;22772468;22613720;23011796;22139867;17170699;23000965;23479224;23349873;23475633;22934512;22479555;23341882;23356982;22268729;22833676 6868 B2RNB2;E7EUI5;P78536 ABBA01015589;ABBA01015590;ABBA01015591;AC073195;AC080162;AC092206;AK289829;AMYH01010093;AMYH01010094;AY422721;BC062687;BC136783;BC146658;BM725368;BQ186514;BX339672;CH471053;CN258241;GQ402545;NG_029873;NM_003183;U69611;U69612;U86755;U92649 AAB51514;AAB51586;AAB53014;AAC39721;AAH62687;AAI36784;AAI46659;AAX93091;AAX93142;AAY14859;ACV30013;BAF82518;EAX00981;EAX00982;NP_003174;P78536 Hs.404914 1341332;1761889;1795294;2173627;5116962 ADAM17_1239;D15S981;RH70698;SHGC-145828;ha2389 ADAM18;CD156B;CSVP;MGC71942;NISBD;TACE ADAM 17;ADAM metallopeptidase domain 17 (tumor necrosis factor, alpha, converting enzyme);ADAM metallopeptidase domain 18;OTTHUMP00000115493;TNF-alpha convertase;TNF-alpha converting enzyme;TNF-alpha-converting enzyme;a disintegrin and metalloproteinase domain 17;disintegrin and metalloproteinase domain-containing protein 17;snake venom-like protease;tumor necrosis factor, alpha, converting enzyme APPROVED protein-coding ENSG00000151694 195 04703 603639;614328 REVIEWED 1346763 ADAM21P1 ADAM metallopeptidase domain 21 pseudogene 1 14 14 14 q24.2 50776650 50778698 - 69782223 69784271 - 70712470 70714518 - 16520872;10524237 145241 ABBA01030818;AF158640;AL160191;AMYH01005826;DQ202398;NR_003951 ABA43715 Hs.712468 1699658 RH103433 ADAM21P a disintegrin and metalloproteinase domain 21 pseudogene APPROVED pseudo ENSG00000235812 19822 VALIDATED 1354292 ADAM26 a disintegrin and metalloproteinase domain 26 11087 205 1350743 ADAM25 a disintegrin and metalloproteinase domain 25 11088 204 1346074 ADAM24P ADAM metallopeptidase domain 24, pseudogene 8 8 8 p22 16292793 16294947 + 17333702 17373392 + 17327027 17329181 + 6480464 10395895;23251661 646479 ABBA01021584;AC124074;AMYH01018545;AP006248;NG_022410 1705078;1719619 RH123714;SHGC-78062 ADAM24 APPROVED pseudo 203 INFERRED 1352892 ADAM22 ADAM metallopeptidase domain 22 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Unlike other members of the ADAM protein family, the protein encoded by this gene lacks metalloprotease activity since it has no zinc-binding motif. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. In mice, it has been shown to be essential for correct myelination in the peripheral nervous system. Alternative splicing results in several transcript variants.[provided by RefSeq, Dec 2010] 7 7 q21 87401638 87664390 + 87563566 87832204 + 1580863;6480464 9693107;16868027;19054571;18593599;18440780;17884303;17681454;16990550;16385342;15882968;15876356;14759258;12853948;12589811;12477932;11050470;10524237;18762889;20156119;20220021;20379614;22072566 53616 E7EPF1;E9PF78;F8WAD8;G5E951;H7C0Q9;H7C3I4;Q08AL8;Q9P0K1 AACC02000015;AB009671;ABBA01045860;ABBA01045861;ABBA01045862;ABBA01045863;AC004992;AC005075;AC005164;AF073291;AF155381;AF155382;AF158637;AF158642;AK125432;AK291010;AL133090;AMYH01017670;AMYH01017671;BC036029;BC062433;BC092465;BC125117;BC125118;CA429662;CH236949;CH471091;DR000609;NM_004194;NM_016351;NM_021721;NM_021722;NM_021723 AAD55251;AAD55253;AAF22476;AAF73288;AAF73289;AAH36029;AAH62433;AAH92465;AAI25119;AAP21878;AAS07417;BAA32349;BAA32350;BAF83699;BAG54196;EAW76913;EAW76914;EAW76915;EAW76916;EAW76917;EAW76918;EAW76919;EAW76920;EAW76921;EAW76922;EAW76923;EAW76924;EAW76925;EAW76926;EAW76927;EAW76928;EAW76929;NP_004185;NP_057435;NP_068367;NP_068368;NP_068369;Q9P0K1 Hs.256398 1681044;1681312;1691800;1696206;1712973;1713467;1795300;1856730;2146511;2183703 A002T31;ADAM22_1746;D7S1543;G42258;RH119592;RH120576;RH92490;RH93001;SHGC-79053;STS-N29801 ADAM 22;MDC2;MGC149832 ADAM 22;OTTHUMP00000174585;OTTHUMP00000174587;OTTHUMP00000174588;OTTHUMP00000207170;OTTHUMP00000207298;a disintegrin and metalloproteinase domain 22;disintegrin and metalloproteinase domain-containing protein 22;metalloproteinase-disintegrin ADAM22-3;metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2 APPROVED protein-coding ENSG00000008277 201 04751 603709 REVIEWED 1314846 ADAM21 ADAM metallopeptidase domain 21 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene expression is testis-specific. [provided by RefSeq, May 2011] 14 14 14 q24.1 50988177 50990582 + 69993970 69996375 + 70918874 70926622 + 1580863;6480464 9469942;15489334;12477932;10524237;16344560 8747 Q9UKJ8 AA758110;ABBA01030812;AF029900;AF158644;AL357153;AL391223;AMYH01005828;BC109024;BC109025;CH471061;DB035527;NM_003813 AAC52042;AAD55255;AAI09025;AAI09026;EAW81035;NP_003804;Q9UKJ8 Hs.178748 1699658;1856613;2106413;2120887;5019809 A009X03;ADAM21_4034;G32933;RH103433;RH78730 ADAM 21;ADAM31;MGC125389 ADAM metallopeptidase domain 21, preproprotein;a disintegrin and metalloproteinase domain 21;disintegrin and metalloproteinase domain-containing protein 21 APPROVED protein-coding ENSG00000139985 200 04755 603713 REVIEWED 1313949 ADAM23 ADAM metallopeptidase domain 23 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers. [provided by RefSeq, May 2013] 2 2 q33 207016613 207190930 + 207308368 207482685 + 1580863;6480464 12477932;9693107;19549921;19477226;19089928;16103878;16094384;15862898;15146197;15146195;14697522;10749942;10524237;19824886;20379614;20851106;22688191;21429053;19322201;14702039;22937229;8619474;9110174 8745 E7EWD3;H7C2M6;O75077 AB009672;ABBA01062663;ABBA01062664;ABBA01062665;AC009225;AC010731;AC079136;AF052115;AF158641;AJ005580;AK091800;AK129906;AK296844;AMYH01011440;AMYH01011441;BC132763;BC132765;CH471063;CN399765;CS072966;H11006;NG_029874;NM_003812;R43984 AAD55252;AAI32764;AAI32766;AAX93195;AAX93210;AAY14948;BAA32351;BAG59410;CAC20565;CAI93690;EAW70386;EAW70387;NP_003803;O75077 Hs.370287;Hs.591643 1335061;1336370;1645687;1663684;1663686;1679553;1698426;1751877;1759149;2115774;2131993;2133603;2133605;2143839;2174283;2175156;2181415;2182623;2191107 A002R48;A005A43;A005P25;D2S369;D2S422;G20230;G20399;MARC_14763-14764:1032183956:1;RH102758;RH16640;RH66377;RH81077;SHGC-105851;SHGC-1663;SHGC-3215;SHGC-37606;SHGC-56733;SHGC-60293;WI-14343 MDC-3;MDC3 ADAM 23;MDC-3;OTTHUMP00000163840;OTTHUMP00000206523;a disintegrin and metalloproteinase domain 23;a disintegrin and metalloproteinase domain 23 (ADAM23);disintegrin and metalloproteinase domain-containing protein 23;metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3 APPROVED protein-coding ENSG00000114948 202 04752 603710 REVIEWED 1344462 ADAM4 a disintegrin and metalloproteinase domain 4 8758 211 1352596 ADAM3B ADAM metallopeptidase domain 3B (pseudogene) 16 16 16 q12.1 34064812 34065518 - 48109058 48109764 - 49551557 49552263 - 11439107;9502432;9284909;9693117 1596 O00504 ABBA01000891;AC007861;AMYH01007654;NG_001526;NG_032972;Y10615 CAA71622 CYRN2 ADAM metallopeptidase domain 3B (cyritestin 2);a disintegrin and metalloproteinase domain 3b (cyritestin 2) APPROVED pseudo 210 INFERRED 1314448 ADAM30 ADAM metallopeptidase domain 30 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008] 1 1 1 p12 118666878 118669835 - 120237679 120240636 - 120436156 120439147 - 1580863;6480464 10512762;18591388;18372903;16710414;12975309;12477932;19862325;23128233 11085 Q8TBZ7;Q9UKF2 ABBA01068518;AF171932;AF171933;AK292483;AL359752;AMYH01000980;AY358734;BC028372;CH471122;HC006770;HC044499;NM_021794 AAF03780;AAF03781;AAH28372;AAQ89096;ABM81876;ABM85038;BAF85172;CBH19191;CBH30579;EAW56717;NP_068566;Q9UKF2 Hs.283011 1795302 ADAM30_207 svph4 ADAM 30;OTTHUMP00000014034;a disintegrin and metalloproteinase domain 30;disintegrin and metalloproteinase domain-containing protein 30 APPROVED protein-coding ENSG00000134249 208 05307 604779 REVIEWED 1347348 ADAM28 ADAM metallopeptidase domain 28 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a lymphocyte-expressed ADAM protein. Alternative splicing results in two transcript variants. The shorter version encodes a secreted isoform, while the longer version encodes a transmembrane isoform. [provided by RefSeq, Jul 2008] 8 8 p21.2 24207525 24268671 + 24151580 24212726 + 1580863;6480464 8125298;10587367;19054571;18690470;17597069;17047053;16052521;15013428;12777399;12667064;11724793;10794709;10506182;20450360;20544843;12477932;19527685;19896699;21077327;20971063;20112342;21329817;21698479;21782798;21913264;23010875;23643150;22636800;20881960 10863 B4DDY3;E5RGY1;E5RJQ1;E7EMU1;H0YBG8;H0YBQ8;Q9UKQ2 ABBA01005549;AC044891;AC120193;AF137334;AF137335;AI475787;AI624552;AJ242015;AK225921;AK293382;AK303437;AMYH01018578;BC136478;BC144140;CH471080;NG_029394;NM_014265;NM_021777 AAD25099;AAD25100;AAI36479;BAG56894;BAG64485;CAB42085;EAW63608;EAW63609;NP_055080;NP_068547;Q9UKQ2 Hs.174030 1777961 RH79000 ADAM 28;ADAM23;MDC-L;MDC-Lm;MDC-Ls;MDCL;eMDC II;eMDCII OTTHUMP00000224870;OTTHUMP00000224872;a disintegrin and metalloproteinase domain 28;disintegrin and metalloproteinase domain-containing protein 28;epididymal metalloproteinase-like, disintegrin-like, and cysteine-rich protein II;epididymial metalloproteinase-like, disintegrin-like, and cysteine-rich protein II;metalloproteinase-like, disintegrin-like, and cysteine-rich protein L;metalloproteinase-like, disintegrin-like, and cysteine-rich protein-L APPROVED protein-coding ENSG00000042980 206 08391 606188 REVIEWED 1351124 ADAM6 ADAM metallopeptidase domain 6, pseudogene 14 14 14 q32.33 86366419 86368958 - 105506864 105509403 - 106435819 106438358 - 6480464 14702039;9841928;16162398 8755 AB019441;ABBA01074086;AI024595;AK093400;AMYH01006100;NG_001019;NR_002224 BAG52709 Hs.662288 1686202 RH98683 C14orf96;tMDCIV a disintegrin and metalloproteinase domain 6 APPROVED pseudo ENSG00000233988 213 PROVISIONAL 1342886 ADAM29 ADAM metallopeptidase domain 29 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is highly expressed in testis and may be involved in human spermatogenesis. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Jul 2008] 4 4 4 q34 173168616 173228548 + 176076134 176135906 + 175839509 175899331 + 1580863;6480464 10512762;16344560;15802535;12477932;10644455;19340428;21618342 11086 D6RBU0;D6RHU0;D6RIU9;Q9UKF5 ABBA01070397;AC105914;AF134708;AF171929;AF171930;AK292410;AMYH01014726;BC036070;BU176889;CH471056;DB039551;DB044176;DB051105;DB073142;DB078034;DB078125;DB078627;DB080702;HC006768;HC044545;NM_001130703;NM_001130704;NM_001130705;NM_001278125;NM_001278126;NM_001278127;NM_014269 AAF03777;AAF03778;AAF22163;AAI66695;AAY41055;BAF85099;CBH19190;CBH30602;EAX04727;EAX04728;NP_001124175;NP_001124176;NP_001124177;NP_001265054;NP_001265055;NP_001265056;NP_055084;Q9UKF5 Hs.126838 1774172 D4S515 CT73;svph1 ADAM 29;OTTHUMP00000218945;OTTHUMP00000218946;OTTHUMP00000218947;OTTHUMP00000218948;OTTHUMP00000218949;a disintegrin and metalloproteinase domain 29;cancer/testis antigen 73;disintegrin and metalloproteinase domain-containing protein 29;metallaproteinase-disintegrin (ADAM29) APPROVED protein-coding ENSG00000168594 207 05306 604778 REVIEWED 1313212 ADAM33 ADAM metallopeptidase domain 33 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This protein is a type I transmembrane protein implicated in asthma and bronchial hyperresponsiveness. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 20 20 p13 3596620 3610738 - 3648620 3662738 - 1331525;1580863;4145379;4145380;4145383;4145361;4142862;4145382;4145358;4145359;4145360;4145357;4145378;6480464 15118671;17961406;17339047;15298558;19284602;19258923;16893396;20156753;19940503;19635592;20003279;18778489 11814695;19326508;19317339;19267929;19265133;19264973;19247692;19237393;19236319;19146844;18923449;18752037;18560587;18425216;18423563;18410963;17878941;17703412;17702965;17640346;17545039;17081983;17061022;16839403;16799089;16784537;16773130;16713569;16650044;16519819;16387804;16024651;15986064;15879414;15805180;15790980;15766253;15709049;15387895;15347848;15196271;15144468;14742294;14720258;14702039;14676211;14659745;14564349;12975309;12768445;12535637;12477932;12110844;11780052;21781516;19665773;19951440;19996348;20227692;20237496;20395963;20491578;20503287;20524005;20701904;20716621;19913121;20628086;20537279;21179102;21078624;21869474;22035178;21930123;22349453;21161400;22888638;22269827;22227561;22851202;22989201;22583515;23612257;23331525;22871616 80332 A2A2L3;Q9BZ11 AB055891;ABBA01053826;AF466287;AF466288;AF466289;AK092627;AK094070;AK095953;AK123015;AK126487;AK126498;AK226148;AK300429;AK304037;AL109804;AL117415;AL356755;AMYH01011677;AY223850;AY223851;AY223852;AY223853;AY223854;AY223855;AY358314;BC062663;BC125112;BC125113;CH471133;DQ995342;NM_025220;NM_153202 AAH62663;AAI25113;AAI25114;AAM80482;AAM80483;AAM80484;AAP15439;AAP15440;AAP15441;AAP15442;AAP15443;AAP15444;AAQ88680;ABI97387;BAB83092;BAC04660;BAG62155;BAG64948;EAX10519;EAX10520;EAX10521;EAX10522;EAX10523;EAX10524;EAX10525;EAX10526;NP_079496;NP_694882;Q9BZ11 Hs.173716 1793112;1793114;1793116;1793118;2113516 ADAM33_V312;PMC196627P1;PMC196627P2;PMC196627P3;PMC196627P4 C20orf153;DJ964F7.1;DKFZp434K0521;FLJ35308;FLJ36751;MGC149823;MGC71889 ADAM 33;OTTHUMP00000030126;OTTHUMP00000161030;a disintegrin and metalloprotease 33;a disintegrin and metalloproteinase domain 33;disintegrin and metalloproteinase domain-containing protein 33;disintegrin and reprolysin metalloproteinase family protein APPROVED protein-coding ENSG00000149451 15478 06173 607114 REVIEWED 1345583 ADAM32 ADAM metallopeptidase domain 32 8 8 8 p11.22 37916690 38094247 + 39084207 39261593 + 38965050 39142436 + 1580863;6480464 12568724;12477932;17081983;15489334;15340161;12975309;20379614 203102 E3W988;E5RGK7;E5RJE6;E5RJY7;E7EPX8;E7ER82;Q8TC27 AB209690;ABBA01015931;AC105091;AC105185;AK122608;AK129810;AK131038;AK300148;AK313864;AMYH01018657;AY172952;AY358739;BC026085;BC026169;BC028702;BC030014;BC030698;BC034975;BI559590;CH471080;NM_145004 AAH26085;AAH26169;AAH28702;AAH30014;AAH30698;AAH34975;AAO45696;AAQ89099;ABM81836;ABM84987;BAC85238;BAC85489;BAD92927;BAG36592;BAG61934;EAW63282;NP_659441;Q8TC27 Hs.521545 1342131;1673158;1717567 D10S1761;G32133;RH122088 FLJ26299;FLJ29004 ADAM 32;OTTHUMP00000225774;OTTHUMP00000225834;OTTHUMP00000226015;a disintegrin and metalloprotease domain 32;a disintegrin and metalloproteinase domain 32;disintegrin and metalloproteinase domain-containing protein 32;metalloproteinase 12-like protein protein-coding ENSG00000197140 15479 16475 VALIDATED 1350597 ADAM3A ADAM metallopeptidase domain 3A (pseudogene) 8 8 p11.23 39427721 39499524 - 39308564 39380470 - 6480464 16344560;12477932;11439107;9693117;9502432;20210993;21138945 1587 ABBA01015913;ABBA01015914;ABBA01015915;ABBA01015916;ABBA01015917;ABBA01015918;AC106011;AC123767;AJ005372;AK302269;AK308250;BC025386;BC042979;BG717260;DB335796;DB447356;HY234081;NR_001569;NR_024106;NR_024107;NR_073423;X89654;X89655;X89656;X89657 BAG63615 Hs.98848 1732399 D8S563E ADAM3;CYRN1;tMDCI a disintegrin and metalloproteinase domain 3a (cyritestin 1) APPROVED pseudo ENSG00000197475 209 VALIDATED 1353792 ADAM5 ADAM metallopeptidase domain 5, pseudogene 8 8 8 p11.22 38123987 38226669 + 39291339 39393902 + 39172182 39274745 + 632496;6480464 8786143 12477932;10417343;20210993;22797925 255926 Q6NVV9 ABBA01015925;ABBA01015926;ABBA01015927;ABBA01015928;ABBA01015929;ABBA01015930;ABBA01015931;AC105185;AC106011;AJ132820;AJ132821;AJ132822;AJ132823;AJ132824;AJ132825;AJ132826;AJ132827;AMYH01018657;BC026083;BC047448;BC057230;BC067864;NR_001448 Q6NVV9 Hs.369765 1705110;1758149 SHGC-147525;SHGC-79975 ADAM5P;TMDCII tmdc ii APPROVED pseudo ENSG00000196115 212 PROVISIONAL 736113 ADAM7 ADAM metallopeptidase domain 7 This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma. [provided by RefSeq, Oct 2011] 8 8 8 p21.2 23262089 23329678 + 24354454 24422171 + 24298509 24367078 + 1580863;6480464 16344560;12514095;12477932;11514362;12037602;21618342;23218918 8756 C9JK28;E5RK87;Q6PEJ6;Q9H2U9 ABBA01005549;AC024958;AC120193;AF090327;AF215824;AK292492;AMYH01018578;BC043207;BC058037;CH471080;DB077360;NM_003817 AAC36742;AAG43987;AAH43207;AAH58037;AAI41423;AAI48736;BAF85181;EAW63606;NP_003808;Q9H2U9 Hs.116147 1672379;5094817 D8S481;TTA024 ADAM 7;ADAM-7;EAPI;GP-83;GP83 ADAM 7;OTTHUMP00000123543;OTTHUMP00000123544;a disintegrin and metalloprotease domain 7;a disintegrin and metalloproteinase domain 7;disintegrin and metalloproteinase domain-containing protein 7;epididymal apical protein I;sperm maturation-related glycoprotein GP-83 APPROVED protein-coding ENSG00000069206 214 07391 607310 REVIEWED 1343050 ADAM8 ADAM metallopeptidase domain 8 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009] 10 10 q26.3 134925911 134940362 - 135075920 135090407 - 1298587;1580863;2325243;2325244;5128874;4145380;5128878;5128872;6480464 9126482;17979891;9670863;19625177;17339047;19373511;20194813 19601829;19469654;19397475;19284887;18691140;18682798;18566576;17548643;16344560;15623614;12477932;12135759;10354553;20453887;18710625;15574124;16385451;18811590;19714641;19766586;19575316;21077325;20628624;12777399;15220135;18397961;21679521;22941466;21728902;21640993;22229154;22215309;22959284;21983884 101 H0YKZ1;H0YMT6;P78325;Q14C66 ABBA01006208;ABBA01006209;AK301147;AK304324;AK310662;AK312834;AL592071;AMYH01003231;AMYH01003232;BC064500;BC115404;BI908229;BM144968;BM146234;BQ007791;CH471211;CR997306;CS174020;D26579;DA936506;DB142906;DC401057;DC408787;NM_001109;NM_001164489;NM_001164490 AAI15405;BAA05626;BAG35688;BAG62738;BAH14159;CAJ34536;EAW61325;EAW61326;NP_001100;NP_001157961;NP_001157962;P78325 Hs.501574 1675794;2216986 ADAM8_1412;RH80752 CD156;MGC134985;MS2 ADAM 8;a disintegrin and metalloproteinase domain 8;cell surface antigen MS2;disintegrin and metalloproteinase domain-containing protein 8;human leukocyte differentiation antigen APPROVED protein-coding ENSG00000151651 215 03777 602267 REVIEWED 1318933 ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. This gene is highly similar to two family members, ADAMTS2 and ADAMTS3, in its sequence and gene structure, and the encoded protein shares the aminoprocollagen peptidase activity with the protein products encoded by ADAMTS2 and ADAMTS3. Various transcript variants of this gene have been identified. They result from the use of two different promoters and transcription initiation sites as well as alternative splicing sites. The full length nature of some transcripts has not been defined. [provided by RefSeq, Jul 2008] 10 10 10 q21 65714785 65804152 + 72102565 72192203 + 72432559 72522197 + 1580863;6771189;6771190;6480464 18790654;15913795 11867212;11779638;11741898;16385451;19851299;20378664;20379614;21254220;22205175 140766 Q8WXS8 ABBA01019633;ABBA01019634;ABBA01019635;AF358666;AF366351;AJ345098;AK128469;AL355344;AL358817;AMYH01002814;AMYH01002815;CH471083;NM_080722;NM_139155 AAI40264;AAL40229;AAL79814;CAC87943;EAW54409;EAW54410;NP_542453;NP_631894;Q8WXS8 Hs.352156 1336739;1797264;2165447 ADAMTS14_2587;D10S1685;RH17783 FLJ32820 A disintegrin and metalloproteinase with thrombospondin motifs 14;ADAM-TS 14;ADAM-TS14;ADAMTS-14;OTTHUMP00000019762;OTTHUMP00000019763;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14;metalloprotease-disintegrin protease APPROVED protein-coding ENSG00000138316 14899 06329 607506 REVIEWED 1321127 ADAM9 ADAM metallopeptidase domain 9 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010] 8 8 p11.22 38973662 39081937 + 38854505 38962780 + 1580863;2317976;2325246;2325247;2325249;1559151;6480464;7240710 15688065;19473694;17465204;14997207;15950787 10531379;8647900;15361064;11162558;17704059;9920899;11831872;17018608;19409519;19394555;19253070;19237226;18061337;17342749;17081983;16806063;16311053;15856464;15280379;15205330;12767059;12535668;12484779;12477932;12135759;12054541;11955914;11882657;10527948;9857183;9016778;8809033;7584028;7584026;16336960;19505527;19543729;19564338;20422344;11581183;20736367;20388695;20672324;21135106;19003995;21956108;21139048;21906983;21987572;22480688;22064652;23342005;21963094;23000965 8754 A0AVL1;C9J6H5;C9JPM3;F8WC54;Q13443 ABBA01015931;ABBA01015932;ABBA01015933;AC105091;AC108863;AF495383;AK293257;AMYH01018657;AV708278;BC027996;BC126406;BC143923;BC143924;CH471080;D14665;NG_016335;NM_003816;NR_027638;NR_027639;NR_027878;U41766 AAC50403;AAI26407;AAI43924;AAM49575;BAA03499;BAG56789;EAW63283;EAW63284;EAW63285;NP_003807;Q13443 Hs.591852 1678315;2149315 RH17377;RH25259 CORD9;KIAA0021;MCMP;MDC9;Mltng ADAM 9;ADAM metallopeptidase domain 9 (meltrin gamma);OTTHUMP00000216481;OTTHUMP00000216484;OTTHUMP00000216485;OTTHUMP00000216486;cellular disintegrin-related protein;cone rod dystrophy 9;disintegrin and metalloproteinase domain-containing protein 9;metalloprotease/disintegrin/cysteine-rich protein 9;myeloma cell metalloproteinase APPROVED protein-coding ENSG00000168615 216 04091 602713;612775 REVIEWED 1314467 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome. [provided by RefSeq, Jul 2008] 19 19 p13.2 8551126 8581588 - 8645126 8675588 - 1580863;6480464;7240710 18567016;18391951;15368195;15358598;15355968;15203218;15146197;15094112;14598350;12477932;11941487;11167130;21402694;19696795;19836009;21900206;20301293;20881960;23422823 81794 M0QY12;M0QY36;M0QZE4;Q6ZN14;Q9H324 AB209515;ABBA01010833;ABBA01010834;ABBA01010835;AC092315;AC130469;AC243312;AF163762;AK131414;AMYH01009443;BC029308;BF588726;BI822988;BM928283;BX461830;CD632934;CD632956;CD632974;CH471139;CN431169;NG_011840;NM_030957 AAG35563;BAD18561;BAD92752;EAW68907;EAW68908;NP_112219;Q9H324 Hs.657508 1338823;1783824;2134345;2138135 D19S906;RH66060;SHGC-154249;STS-Z41090 ADAM-TS10;WMS;WMS1 A disintegrin and metalloproteinase with thrombospondin motifs 10;ADAM-TS 10;ADAMTS-10;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10;zinc metalloendopeptidase APPROVED protein-coding ENSG00000142303 13201 07470 277600;608990 REVIEWED 736845 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008] 21 21 q21.2 27130477 27139599 - 28208606 28217728 - 1580863;6480464 8995297;10438512;19608765;19404339;19349275;19027488;19023099;19010931;19007777;18192475;18174457;18076023;17975119;17897672;17560840;17167179;16675485;16641089;16495931;16328961;16314835;16061471;15967414;15878613;15661359;15599946;15184385;14996435;14760803;14702039;12907688;12716911;12477932;12054629;12054626;11831030;11278559;10930576;10830953;10811842;10785405;10718198;10373500;10094461;9593739;20546609;18775505;19615732;19915008;20103648;20484033;21037509;20840749;22735305;20655981;20795945;22776012;21345877;21937160;21890473;22383695;22562232;23001403;23289900 9510 E5RI60;E5RJR7;H7C206;Q8NE26;Q9UHI8 AB037767;ABBA01057223;AF060152;AF170084;AF207664;AK023795;AK129873;AK314475;AL162080;AMYH01012178;AP001598;AP001599;AP001697;AW163724;BC036515;BX647388;CH471079;DQ108407;NM_006988 AAD48080;AAF15317;AAF23772;AAH36515;AAZ73034;ABM87764;ABW03905;BAA92584;BAA95502;BAC85245;BAG37080;CAB82413;CAI46043;EAX09951;EAX09952;NP_008919;Q9UHI8 Hs.643357 1795306;2127761;2171743;2171745;2172923;2175271;2190907;5092708 A005R14;ADAMTS1_209;D21S1964;D21S2033;G32278;MARC_10651-10652:1000474642:1;SHGC-51859;STS-R76276 C3-C5;KIAA1346;METH1 A disintegrin and metalloproteinase with thrombospondin motifs 1;ADAM-TS 1;ADAM-TS1;ADAMTS-1;METH-1;OTTHUMP00000096354;a disintegrin and metalloproteinase with thrombospondin motifs 1 (adamts-1);a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1;human metalloproteinase with thrombospondin type 1 motifs APPROVED protein-coding ENSG00000154734 217 05530 605174 REVIEWED 1320430 ADAMDEC1 ADAM-like, decysin 1 This encoded protein is thought to be a secreted protein belonging to the disintegrin metalloproteinase family. Its expression is upregulated during dendritic cells maturation. This protein may play an important role in dendritic cell function and their interactions with germinal center T cells. [provided by RefSeq, Jul 2008] 8 8 8 p21.2 23205384 23227107 + 24297916 24319471 + 24241798 24263526 + 1580863;6480464 9271581;19218196;18449420;16335952;15489334;14632642;12477932;12037602;11673514 27299 B7Z6V5;E5RK05;O15204 ABBA01005549;AC120193;AK300959;AK301007;AK311528;AK316320;AK316322;AMYH01018578;BC069582;BC074877;BC074878;CH471080;DC387711;NM_001145271;NM_001145272;NM_014479;Y13323 AAH69582;AAH74877;AAH74878;BAH13381;BAH13391;BAH14691;BAH14693;CAA73764;EAW63607;NP_001138743;NP_001138744;NP_055294;O15204 Hs.521459 1795304;2112346 ADAMDEC1_1286;D8S2210 FLJ79219;M12.219 ADAM DEC1;ADAM-like protein decysin-1;OTTHUMP00000123542;OTTHUMP00000224959;a disintegrin and metalloproteinase domain-like protein decysin-1;decysin;disintegrin protease APPROVED protein-coding ENSG00000134028 16299 07070 606393 VALIDATED 1323132 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 9 9 q34 135276941 135314328 + 136279459 136324508 + 1598737;1580863;6480464;7240710 16689760 22324373;22431572;21238935;19644711;21385852;22298244;22529288;20390223;11557746;12775718;11535495;19506365;19427680;19422343;19389207;19270304;19260037;19253359;19234142;19190814;19190805;19190804;19116307;19069166;19054323;19047683;19041237;18988930;18983500;18981290;18940312;18835837;18833927;18801485;18756543;18725999;18665921;18609162;18581589;18521503;18502798;18492952;18492805;18449422;18433458;18332284;18327408;18263586;18240172;18223285;18194418;18175284;18166799;18031293;17988227;17928530;17922807;17901248;17849048;17768109;17764538;17725738;17395589;17296575;17294528;17229645;17121983;17087728;17053057;17030346;17003922;16990571;16953270;16899464;16894459;16807643;16794526;16755777;16634765;16597588;16468327;16453338;16449289;16391894;16344560;16335952;16322474;16286459;16221672;16203734;16189276;16160007;16141351;16113782;16102037;15975930;15890682;15886321;15865866;15855280;15842379;15824096;15809291;15774620;15774619;15711742;15710227;15692254;15583740;15388580;15327386;15249683;15182579;15175818;15164053;15126318;15009467;15009458;14976043;14962303;14727263;14727259;14727257;14727256;14727255;14727254;14644076;14563640;14525793;14512317;14512308;12975358;12975309;12923577;12871391;12871390;12869506;12855569;12791682;12753286;12615692;12614216;12477932;12395148;12393505;12393399;12393397;12223999;12195022;12181489;12172456;12130486;12091372;12091044;12084165;12038781;11920264;11867212;11843286;11586351;11586344;11574066;11535494;11230166;11167130;8639782;8639781;19492149;20664912;20682599;20647566;20734064;20141578;21196718;19422532;20605782;20307901;19809308;18996572;19027144;19162307;19439298;19541819;19574655;19584892;19587373;19654870;19682236;19718479;19729451;19765208;19765212;19812385;19822897;19847791;19880749;19897584;19944670;19996632;20032502;20054668;20058209;20062916;20075158;20201926;20705333;21077328;20553378;20624874;20958794;20695979;20704649;21103662;20946172;21350095;21136020;21799176;23233642;22783805;22915644;22627385;21512165;21779388;21573942;21479334;21488199;21705658;23020229;20923926;21720563;21712537;21843064;21781265;21715306;21896483;22703881;21275971;22289888;22289891;22370688;22685231;21901237;22075512;21732076;22205175;21535387;21605335;21606162;21676167;22398507;22466813;22529289;22314603;22110247;22168261;22192749;22922961;23144461;23225307;12576319;12640381;15521921;16796708;18443791;19055667;19109562;23141846;23267103;23524258;22672482;23346910;22768050;22854959;22070827;22163125;22627470;22707719 11093 B3KWF7;E7EV88;Q76LX8;Q9UGQ1 AB069698;ABBA01032457;ABBA01032458;AF414400;AF414401;AJ011374;AJ305314;AJ420810;AJ420811;AK124983;AK292439;AL136809;AL158826;AL593848;AMYH01021802;AMYH01021803;AMYH01021804;AV655072;AW197188;AY055376;AY358118;AY532929;AY532930;AY532931;AY532932;BC034404;BC039251;BC103828;BC103829;BC103830;CH471090;DB069518;DQ422807;NG_011934;NM_139025;NM_139026;NM_139027;NR_024514 AAI72369;AAL11094;AAL11095;AAL17652;AAQ88485;AAS54901;AAS54902;AAS54903;AAS54904;ABD72606;BAB69487;BAF85128;BAG54119;CAB66157;CAB66743;CAC83682;CAD12729;CAD12730;CAI12850;CAI12851;CAI12852;EAW88083;EAW88084;EAW88085;EAW88086;EAW88087;EAW88088;NP_620594;NP_620595;NP_620596;Q76LX8 Hs.131433 2216988 ADAMTS13_3006 13;ADAM-TS;ADAM-TS13;ADAMTS-13;C9orf8;DKFZp434C2322;FLJ42993;MGC118899;MGC118900;TTP;VWFCP;vWF-CP A disintegrin and metalloproteinase with thrombospondin motifs 13;ADAM-TS 13;ADAM-TS13;ADAMTS-13;OTTHUMP00000022496;OTTHUMP00000022497;OTTHUMP00000022498;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13;vWF-cleaving protease;von Willebrand factor-cleaving protease APPROVED protein-coding ENSG00000160323 1366 04994 274150;604134 REVIEWED 1316449 ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008] 5 5 q35 33563043 33927881 - 33527286 33892124 - 1580863;6480464 21494557;22322903;19098927;17895370;17081983;16611630;15489334;12975309;12477932;11279086;11167130;10737800;19151918;19638407;20379614;20400778;21559743;22247065;22505177;22990015;23019333 81792 D6REX0;P58397 ABBA01066753;ABBA01066754;ABBA01066755;ABBA01066756;ABBA01066757;ABBA01066758;ABBA01066759;ABBA01066760;AC008880;AC034232;AC109491;AC139777;AJ250725;AMYH01015007;AW938686;AY358745;BC058841;BC131733;BC139900;CH471118;NM_030955 AAH58841;AAI31734;AAI39901;AAQ89105;CAC20419;EAX10808;EAX10809;NP_112217;P58397 Hs.12680 1334885;1341667;1670902;1682479;1685694;1687514;1708310;1709088;1714121;1722723;1728033;1764717;1765159;1765529;1766601;7186228;7186236;7187544 D5S1506;D5S2062;D5S674;G60449;G63287;RH119668;RH41190;RH79828;RH94238;SHGC-148307;SHGC-148675;SHGC-149004;SHGC-149910;SHGC-79414;SHGC-85695 PRO4389 A disintegrin and metalloproteinase with thrombospondin motifs 12;ADAM-TS 12;ADAM-TS12;ADAMTS-12;OTTHUMP00000221211;OTTHUMP00000221212;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12 APPROVED protein-coding ENSG00000151388 14605 05862 606184 REVIEWED 1318082 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif, 19 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008] 5 5 5 q23.3 124927090 125204740 + 128824002 129102275 + 128796103 129074376 + 1580863;6480464 11867212;19508998;22445761;23251661 171019 D6R9M2;H0Y8Y0;Q8TE59 ABBA01068850;ABBA01068851;ABBA01068852;ABBA01068853;AC008425;AC008528;AC008591;AC106781;AC129713;AI366752;AJ311904;AK122622;AK128729;AMYH01015605;AMYH01015606;AW473680;CH471062;NM_133638 AAI56493;BAG53626;CAC84565;EAW62381;EAW62382;EAW62383;EAW62384;EAW62385;NP_598377;Q8TE59 Hs.23751 1342032;1652236;1673641;1676472;1695188;1776661;1780482;1780626;1785722;2132610;2216990;5093654 A009U23;ADAMTS19_2956;D5S1614E;D5S1841;D5S809;G32845;G48235;RH91157;SHGC-80086;STS-R86261;bac5006S;bac51428S FLJ16042 A disintegrin and metalloproteinase with thrombospondin motifs 19;ADAM-TS 19;ADAM-TS19;ADAMTS-19;OTTHUMP00000159239;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19 APPROVED protein-coding ENSG00000145808 17111 06334 607513 REVIEWED 1320722 ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS18, another family member. [provided by RefSeq, Jul 2008] 5 5 5 p15 5166758 5346634 + 5193443 5373412 + 5140443 5320412 + 1580863;6480464 17519324;16507336;14702039;11867212;22562232;19423552;19635554;20379614 170690 Q2XQZ0;Q8TE57 AB095949;ABBA01016132;ABBA01016133;ABBA01016134;ABBA01016135;AC010269;AC022424;AC091978;AJ315734;AK122980;AK127746;AM983533;AMYH01014877;CH471102;DQ266047;FJ515844;NM_139056 AAI40298;ABB70405;ACS13738;BAC23125;BAG53830;BAG54564;CAC86015;CAQ42983;EAX08117;EAX08118;EAX08119;EAX08120;NP_620687;Q8TE57 Hs.661915 1658742;1705394;1727817;1769011;1773590;2071048;2128485;2145140;2145142;2175582;2175584 A005Z07;A006A39;AFM198yb2;D5S1921;G20614;G20661;G63174;L28417;L31467;REN106716;SHGC-83559 ADAMTS16s;FLJ16731 A disintegrin and metalloproteinase with thrombospondin motifs 16;ADAM-TS 16;ADAM-TS16;ADAMTS-16;OTTHUMP00000220539;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16 APPROVED protein-coding ENSG00000145536 17108 06331 607510 REVIEWED 1318756 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the protein encoded by ADAMTS19, another family member. The function of this protein has not been determined. [provided by RefSeq, Jul 2008] 15 15 15 q24 76928247 77297865 - 98329166 98699706 - 100511643 100882183 - 1580863;6480464;7240710 18391951;16344560;14702039;11867212;20546612;19266077;19836009;20200978;21037509;21555518;20881960;21145461;22486325 170691 H0YMH1;H3BRA9;H3BV94;Q8TE56 AA884550;ABBA01020541;ABBA01020542;ABBA01020543;ABBA01020544;ABBA01020545;ABBA01020546;ABBA01020547;AC015723;AC022710;AC084855;AC113187;AJ315735;AK057331;AK057529;AK131344;AMYH01006969;AMYH01006970;AMYH01006971;CH471101;DB279404;DQ217943;NG_016287;NM_139057 AAI52746;ABB70740;BAD18500;CAC86016;EAX02261;EAX02262;EAX02263;EAX02264;NP_620688;Q8TE56 Hs.513200 1675169;1687249;1721793;1738959;1750001;1755309;1760831;1763385;1779560;2127050;2132341;2133126;2137988;5094274 D15S1294;D15S858;D15S929;D15S934;G09513;G09795;G54680;G59767;RH80915;SHGC-111703;SHGC-142197;SHGC-144491;SHGC-147106;SHGC-153531 FLJ16363;FLJ32769 A disintegrin and metalloproteinase with thrombospondin motifs 17;ADAM-TS 17;ADAM-TS17;ADAMTS-17;OTTHUMP00000194818;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17 APPROVED protein-coding ENSG00000140470 17109 06332 607511;613195 REVIEWED 1320284 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the proteins encoded by ADAMTS1 and ADAMTS8. [provided by RefSeq, Jul 2008] 11 11 11 q25 127487765 127515431 + 129824079 129848926 + 130318869 130346539 + 1580863;6480464 19458070;16152618;15599946;15489334;12477932;11867212;20590445;23233679 170689 Q8TE58 ABBA01023042;AJ315733;AK130067;AMYH01004129;AMYH01004130;AP002986;AP003459;BC109114;CH471065;NM_139055 AAI09115;CAC86014;EAW67786;EAW67787;NP_620686;Q8TE58 Hs.534221 1645567;1689548;1737027;1737843;1737853;1757641 D11S2776;D11S3451;D11S3457;RH47034;RH81015;SHGC-145973 MGC126403 A disintegrin and metalloproteinase with thrombospondin motifs 15;ADAM-TS 15;ADAM-TS15;ADAMTS-15;OTTHUMP00000230651;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15, preproprotein;metalloprotease disintegrin 15 with thrombospondin domains APPROVED protein-coding ENSG00000166106 16305 06330 607509 REVIEWED 1321433 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene excises the N-propeptide of type I, type II and type V procollagens. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] 5 5 qter 178473456 178704935 - 178537852 178772431 - 1598739;1580863;6480464;7240710 10417273 15373769;14730609;12477932;11788898;11741898;11167130;11076863;10464288;10094461;7735500;15146197;18937294;16046392;16344560;20574651;22589738;18624398;22205175;22990015 9509 O95450 ABBA01010012;ABBA01010013;ABBA01010014;ABBA01010015;ABBA01010016;ABBA01010017;AC008470;AC008544;AC010216;AC016557;AC034202;AC109479;AI417257;AJ003125;AK308213;AMYH01015950;BC098581;BU629258;BX479109;BX537606;CA445758;CH471165;CN305044;CO247372;DA928965;NG_023212;NM_014244;NM_021599 AAI11460;CAA05880;EAW53815;EAW53816;NP_055059;NP_067610;O95450 Hs.23871 1659727;1686152;1732629;1756301;1780756;1780814;1787934;2141587;2147657;2164738;2186665 D5S1382;G09291;RH12250;RH44368;RH44727;SGC33801;SHGC-143243;SHGC-155422;WI-10789;bac51964S;bac52194T ADAM-TS 2;ADAM-TS2;ADAMTS-2;ADAMTS-3;DKFZp686F12218;NPI;PC I-NP;PCI-NP;PCINP;PCPNI;hPCPNI;pNPI A disintegrin and metalloproteinase with thrombospondin motifs 2;OTTHUMP00000161523;OTTHUMP00000224422;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2;procollagen I N-proteinase;procollagen I/II amino propeptide-processing enzyme;procollagen N-endopeptidase APPROVED protein-coding ENSG00000087116 218 05173 225410;604539 REVIEWED 1317084 ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has a signal peptide that is cleaved to release the mature peptide, which is secreted and found in the extracellular matrix. This protein may be involved in tissue remodeling. [provided by RefSeq, Sep 2011] 12 12 12 q12 42551068 42749852 - 42034279 42231991 - 43748012 43945724 - 6480464 12514189;14702039;12562771;20221248;22379998;23251661 80070 E9PBD5;G3V1X8;H0YHN3;P59510 ABBA01031413;ABBA01031414;ABBA01031415;ABBA01031416;AC090525;AC107018;AC120104;AF488804;AJ515153;AJ515154;AK023228;AMYH01004410;AMYH01004411;AMYH01004412;CH471111;NG_028228;NM_025003 AAO15766;BAB14479;CAD56159;CAD56160;EAW57861;EAW57862;EAW57863;EAW57864;NP_079279;P59510 Hs.287554 1696092;2218978 ADAMTS20__4252;SHGC-79122 ADAM-TS20;ADAMTS-20;GON-1 A disintegrin and metalloproteinase with thrombospondin motifs 20;ADAM-TS 20;OTTHUMP00000240868;OTTHUMP00000240870;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20;a disintegrin-like and metalloprotease with thrombospondin type 1 motifs 20 APPROVED protein-coding ENSG00000173157 17178 611681 REVIEWED 1321838 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif, 3 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene is the major procollagen II N-propeptidase. A deficiency of this protein may be responsible for dermatosparaxis, a genetic defect of connective tissues. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 70502659 70790668 - 73365551 73653380 - 73146686 73434516 - 1580863;6480464 10094461;11812023;11408482;15708897;12477932;11831030;11741898;11167130;10464288;9205841;21546767;20881960;21822266;22205175;22286219;23259602;22916037 9508 B7Z2U9;O15072;Q96AY5 AB002364;ABBA01022980;ABBA01022981;ABBA01022982;ABBA01022983;AC093790;AC095056;AC104814;AF247668;AK295131;AMYH01014293;AMYH01014294;AMYH01014295;BC016451;BC019707;BC130287;BC132735;CH471057;NM_014243 AAH16451;AAI30288;AAI32736;AAK28400;BAA20821;BAH11985;EAX05651;EAX05652;NP_055058;O15072 Hs.590919 1650048;1658362;1662799;1713803;1715015;1776763;1795308;2137498 ADAMTS3_678;D4S1389;G33602;HSC2JD032;RH120789;RH120844;SHGC-59735;SHGC-67364 ADAMTS-4;KIAA0366 A disintegrin and metalloproteinase with thrombospondin motifs 3;ADAM-TS 3;ADAM-TS3;ADAMTS-3;OTTHUMP00000160361;PC II-NP;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3;procollagen II N-proteinase;procollagen II amino propeptide-processing enzyme;zinc metalloendopeptidase APPROVED protein-coding ENSG00000156140 219 06893 605011 REVIEWED 1353739 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the protein encoded by gene ADAMTS16, another family member. It is thought to function as a tumor suppressor. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 16 16 16 q23 61613574 61766657 - 75873526 76026512 - 77316025 77469011 - 1580863;6480464 19249006;18398821;16507336;15489334;14702039;12477932;11867212;8889548;17546048;19844255;20164292;20379614;19806480;21047771;21862674;22425255;23356391 170692 B4DEX3;H3BMG1;H3BTZ3;Q2VYF7;Q6ZN25;Q8TE60 ABBA01017034;ABBA01017035;ABBA01017036;AC009139;AC010548;AC025284;AF086229;AI792764;AJ311903;AK122677;AK131403;AK293831;AMYH01007824;AMYH01007825;AY172951;BC063283;BM684970;CH471114;NG_031879;NM_199355 AAH63283;AAO45695;BAC85503;BAD18550;BAG57234;CAC83612;EAW95598;EAW95599;EAW95600;EAW95601;EAW95602;NP_955387;Q8TE60 Hs.188746 1339054;1700678;1709484;1728075;1789184;2149700 D16S3097;D16S782;G63308;G65591;RH103962;SHGC-81796 ADAMTS21;KNO2 A disintegrin and metalloproteinase with thrombospondin motifs 18;ADAM-TS 18;ADAM-TS18;ADAMTS-18;OTTHUMP00000174960;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 21;disintegrin and metalloprotease-like protein APPROVED protein-coding ENSG00000140873 17110 06333 607512;608454 REVIEWED 1317007 ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. [provided by RefSeq, Jul 2008] 5 5 5 q12 61441460 61776222 - 64480319 64813460 - 64444563 64777704 - 1580863;6480464 18579725;16129570;12477932;11167130;10464288;8401585;7566098;20889312;20379614;15123239;23212062;23291589 11174 D6R9L6;Q5IR90;Q9UKP5 AA318687;AA333577;AA907572;AB209685;ABBA01048331;ABBA01048332;ABBA01048333;AC008847;AC008868;AC025176;AC025186;AC099505;AF140674;AK131039;AMYH01015132;AY692422;AY692423;AY692424;AY692425;AY692426;BC010563;BC020916;BC071654;BG117513;CR749356;NM_197941;W05436 AAD56357;AAI56432;AAW47395;AAW47396;AAW47397;AAW47398;AAW47399;BAC85480;BAD92922;CAH18209;NP_922932;Q9UKP5 Hs.482291 1335310;1652232;1667904;1697052;1725125;1755313;1771220;1781198;1856258;2142342;2145627;2216992;5491850 ADAMTS6;ADAMTS6_3045;D5S1345;D5S1877;D7S1840;L28197;L28224;L31482;RH102005;RH118864;RH65423;SHGC-142204;STS-H02820 ADAM-TS 6;ADAM-TS6;ADAMTS-6 A disintegrin and metalloproteinase with thrombospondin motifs 6;OTTHUMP00000083269;OTTHUMP00000221883;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6 APPROVED protein-coding ENSG00000049192 222 05421 605008 REVIEWED 5144623 ADAMTS9-AS1 ADAMTS9 antisense RNA 1 3 64547343 64575765 + 100507082 XR_110020;XR_132711;XR_133345;XR_133346 APPROVED miscrna 40625 5144444 ADAMTS9-AS2 ADAMTS9 antisense RNA 2 3 3 64687277 64977811 + 64670546 64997143 + 16344560;23218918;23455636;18372903;20935629;22005931;22589738 100507098 ABBA01024306;ABBA01024307;ABBA01024308;AC008583;AC121766;AC122178;AC132007;AC137671;AK057923;AL832788;AMYH01013248;AMYH01013249;BC040632;DA927615;NR_038264 Hs.660881 1335736;1342413;1727843;1735106;1783062;1784384;2121012;2122920;7186570 D3S1285;D3S2784E;D3S3446;D3S3644;D3S4057;G63187;SHGC-150996;SHGC-152672 DKFZp667E0523 APPROVED miscrna ENSG00000241684 42435 VALIDATED 1315487 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two C-terminal TS motifs. [provided by RefSeq, Jul 2008] 15 15 15 q24.2 55988022 56040507 - 76838600 76890828 - 79051545 79103773 - 1580863;6480464 19098927;16585064;12477932;11167130;10464288;19487464;20718794;21239051;21378988;21378990;23415669;23561647;22247065 11173 Q9UFZ4;Q9UKP4 AB209497;ABBA01060594;ABBA01060595;AC022748;AF140675;AK299844;AL110226;AL359934;AMYH01006840;AY327122;BC061631;CB991707;CH471136;NG_011492;NM_014272 AAD56358;AAH61631;AAQ94616;BAD92734;BAG61706;CAB53684;CAB95770;EAW99148;EAW99149;EAW99150;EAW99151;NP_055087;Q9UKP4 Hs.16441 1757665;1783198;2137316;5095096;5095098;5095102 ADAMTS7,_C.1468-4G>A;ADAMTS7,_C.2223T>C;ADAMTS7,_C.5061+42_C>T;RH46878;SHGC-146180;SHGC-146595 ADAM-TS 7;ADAM-TS7;ADAMTS-7;DKFZp434H204 A disintegrin and metalloproteinase with thrombospondin motifs 7;COMPase;a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7 APPROVED protein-coding ENSG00000136378 223 05422 605009 REVIEWED 1346398 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. It is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The cleavage of aggrecan and brevican suggests key roles of this enzyme in arthritic disease and in the central nervous system, potentially, in the progression of glioma. [provided by RefSeq, Jul 2008] 1 1 q21-q23 159426162 159435469 - 161159538 161168845 - 1580863;6480464 22670872;10751421;14744861;10356395;19342688;19054571;18671934;18660489;18387286;18221525;18156631;18050214;18042673;18039650;17978660;17606262;17470431;17430884;17311924;17295438;17265492;17208315;17095512;17009305;16771712;16741450;16723216;16710414;16677612;16344560;16099106;16003758;15489334;15161923;14715656;14701864;14662755;14561220;12975309;12646579;12477932;12202483;11956193;11854269;11831030;11801682;11796708;11278559;11254106;11167130;10986281;10827174;10801887;10464288;10438522;10094461;9734811;16188468;18718938;18941754;19643179;19944557;20664926;21334453;20625753;22735305;22065068;21345877;21139048;21946608;19322201;21664283;20857147;22324945;22562232;21988832;23082219;23137648;23319426 9507 O75173;Q5VTW1 AB014588;ABBA01016596;AF148213;AK291573;AL590714;AL603427;AMYH01001457;AY044847;AY358886;BC030812;BC063293;CH471121;DA098917;DQ364570;NM_005099 AAD41494;AAH63293;AAL02262;AAQ89245;ABC88384;BAA31663;BAF84262;EAW52627;NP_005090;O75173 Hs.211604 1848540;5015619;5015861;5037552;7185938 96;D10S16;D11S3114;D8S2279 ADAMTS-2;ADAMTS-4;ADMP-1;KIAA0688 A disintegrin and metalloproteinase with thrombospondin motifs 4;ADAM-TS 4;ADAM-TS4;OTTHUMP00000032249;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4;aggrecanase-1 APPROVED protein-coding ENSG00000158859 220 04853 603876 REVIEWED 1343923 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains two C-terminal TS motifs and functions as aggrecanase to cleave aggrecan, a major proteoglycan of cartilage. [provided by RefSeq, Jul 2008] 21 21 q21.3 27212112 27260703 - 28290231 28339439 - 1580863;6480464 10438522;18029348;18830934;18671934;18478108;18240210;18156631;18042673;17991750;17978660;17430884;17265493;17265492;17211519;17067994;16507336;16133547;16003758;15489334;14715656;14702039;12477932;12392761;11956193;11854269;11831030;11801682;11231277;11167130;11032846;10830953;10464288;9688535;15599946;21437951;21546767;21370305;19643179;19684582;19834535;20237151;22562232;20568084;22735305;20494980;21828051;21345877;21906983;22493487;23064555;23082219;22707719;22796434 11096 Q9UNA0 ABBA01057223;ABBA01057224;AF086299;AF086358;AF141293;AF142099;AK094057;AK095905;AMYH01012178;AMYH01012179;AP001600;AP001601;AP001697;AP001698;BC093775;BC093777;CH471079;NM_007038 AAD49577;AAF02493;AAH93775;AAH93777;BAA95503;BAA95504;EAX09948;EAX09949;NP_008969;Q9UNA0 Hs.58324 1678859;1688674;1858068;2165187;2185105 RH92546;RH92793;SHGC-87515;SHGC-87525;STS-H13278 ADAM-TS 11;ADAM-TS 5;ADAM-TS5;ADAMTS-11;ADAMTS-5;ADAMTS11;ADMP-2;FLJ36738 A disintegrin and metalloproteinase with thrombospondin motifs 5;ADAM metallopeptidase with thrombospondin type 1 motif, 5 (aggrecanase-2);ADAM-TS 11;ADAM-TS 5;ADAM-TS5;ADAMTS-11;ADAMTS-5;OTTHUMP00000096353;a disintegrin and metalloproteinase with thrombospondin motifs 11;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2);aggrecanase-2 APPROVED protein-coding ENSG00000154736 221 05420 605007 REVIEWED 1318322 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. [provided by RefSeq, Jul 2008] 11 11 11 q25 127443759 127467479 - 129780028 129803749 - 130274818 130298539 - 1580863;6480464 10438512;10610729;17606262;16570050;16152618;15328519;15296936;14702039;12477932;20201926 11095 Q5FWF1;Q9UP79 AB209717;ABBA01023041;AF060153;AF175283;AK123706;AMYH01004128;AMYH01004129;AP002986;BC089435;BC113874;BC114624;BM988619;CH471065;NM_007037 AAD48081;AAF25806;AAH89435;AAI13875;AAI14625;BAD92954;BAG53941;EAW67783;EAW67784;EAW67785;NP_008968;Q9UP79 Hs.271605 1771492;1797266 ADAMTS8_2450;D11S1009 ADAM-TS8;FLJ41712;METH2 A disintegrin and metalloproteinase with thrombospondin motifs 8;ADAM-TS 8;ADAMTS-8;METH-2;METH-8;OTTHUMP00000230650;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8 APPROVED protein-coding ENSG00000134917 224 05531 605175 REVIEWED 1315761 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif, 9 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. [provided by RefSeq, Jul 2008] 3 3 p14.1 64476370 64648405 - 64501330 64673365 - 1580863;6480464 19324937;10936055;12514189;19502414;19020324;19020323;18714373;18694974;18591388;18567820;18449890;18372903;19247373;19139842;16799631;16537537;16507336;15599946;14702039;12477932;11167130;10718198;20551050;20712903;20734064;20816152;20879858;20889853;20927120;20935629;19052845;19602701;19670153;19720844;19741467;19794065;19833888;19862325;19875450;19933996;19963134;20075150;20093484;20161779;20203524;20379614;20490451;20568084;22562232;23455636;22005931;22589738;23218918;22419820 56999 B7ZVX9;C9JWI2;H0Y859;Q9P2N4 AB037733;ABBA01024308;ABBA01024309;AC096888;AC122178;AF261918;AF488803;AK124945;AK300357;AK303343;AK310571;AMYH01013248;BC026271;BC036770;BC130578;BC171764;BX482310;CD103111;CH471055;NM_182920 AAF89106;AAI30579;AAI71764;AAO15765;BAA92550;BAG62098;BAG64406;EAW65434;EAW65435;NP_891550;Q9P2N4 Hs.656071 1670321;1674480;1687275;1795310;1847418;1850696;5019122 ADAMTS9_1430;RH102082;RH80461;SHGC-33668;SHGC-77053;STS-T87804;WI-17091 FLJ42955;KIAA1312 A disintegrin and metalloproteinase with thrombospondin motifs 9;ADAM-TS 9;ADAM-TS9;ADAMTS-9;OTTHUMP00000213329;OTTHUMP00000213331;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9 APPROVED protein-coding ENSG00000163638 13202 05662 605421 REVIEWED 1313018 ADAMTSL3 ADAMTS-like 3 15 15 15 q25.2 59876379 60263640 - 82113842 82499598 + 84322838 84708594 + 6480464 19266077;18391952;18391951;18391950;17597111;14702039;14667842;12508121;12477932;10574462;9628581;21239144;20546612;19343178;20189936;20397748;21998595;20881960 57188 P82987 AB033059;ABBA01029443;ABBA01029444;ABBA01029445;ABBA01029446;ABBA01029447;ABBA01029448;ABBA01029449;ABBA01029450;ABBA01029451;ABBA01029452;ABBA01029453;ABBA01029454;AC027807;AC087738;AC116157;AF237652;AK092324;AK308845;AL109723;AL109724;AMYH01006865;AMYH01006866;BC128389;BC128390;BE646238;CH471188;NM_207517 AAI28390;AAI28391;AAK15041;BAA86547;EAW62418;NP_997400;P82987 Hs.459162 1338049;1719647;1721745;1724353;1727225;1753813;1761081;1787740;1851318;2115367;2124741;2157725;2218182 ADAMTSL3__4253;D15S154;D15S821;D15S826;G59740;G62867;RH119099;RH123728;RH66242;SGC33139;SHGC-145062;SHGC-173332;SHGC-89205 KIAA1233;MGC150716;MGC150717 ADAMTS-like protein 3;ADAMTSL-3;OTTHUMP00000190871;a disintegrin-like and metalloprotease domain with thrombospondin type I motifs-like 3;punctin-2 protein-coding ENSG00000156218 14633 12426 609199 VALIDATED 1343515 ADAMTSL2 ADAMTS-like 2 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009] 9 9 9 q34.2 106945251 106987558 + 135389796 135430462 + 136397286 136440641 + 1580863;6480464;7240710 18677313;17509843;15489334;14667842;12477932;9628581;20301776;21415077;21988832 9719 B1B0D4;Q86TH1 AB011177;ABBA01032454;ABBA01032455;AI571260;AK127107;AK293498;AMYH01021806;AMYH01021807;AMYH01021808;BC050544;BX324209;BX629352;BX649571;CH471090;NG_009931;NM_001145320;NM_014694 AAH50544;BAA25531;BAG54437;BAG56984;EAW88095;EAW88096;EAW88097;NP_001138792;NP_055509;Q86TH1 Hs.522543 1337168;5037552 D8S2279;D9S1793 FLJ45164;GPHYSD1;KIAA0605 ADAMTS-like protein 2;ADAMTSL-2;OTTHUMP00000162492;OTTHUMP00000162493 APPROVED protein-coding ENSG00000197859 14631 11096 231050;612277 REVIEWED 1315056 ADAMTSL1 ADAMTS-like 1 This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008] 9 9 9 p21.3 18399808 18837144 + 18464104 18900948 + 18474079 18910948 + 6480464 17395588;12477932;15203218;16344560;15489334;15164053;14702039;14667842;12975309;11805097;9628581;19671700;19824886;20379614;19913121;20628086;23251661;23459443 92949 A2A343;A6NIB9;F8WEP3;H7BYE3;Q6MZQ3;Q96RW4 ABBA01065223;AF176313;AF251058;AI750970;AK092602;AK123028;AK128724;AK290667;AK291956;AL158150;AL353895;AL442638;AL449963;AL591423;AMYH01019265;AMYH01019266;AMYH01019267;AMYH01019268;AY358327;BC030262;BC100788;BC100789;BC100790;BU626040;BX640951;CD636819;CH471071;CR740880;CX758410;DA549329;DA598045;NM_001040272;NM_052866 AAH30262;AAI00789;AAI00791;AAK34948;AAK84170;AAQ88693;ADZ15395;BAC03925;BAF83356;BAF84645;CAE45975;EAW58656;NP_001035362;NP_443098;Q8N6G6 Hs.741483 1704812;1760619;1761055;1786912;2154304;2162739;2184359;2189355;5016464 154YD2;D9S1163;D9S1993;GDB:384854;MARC_2660-2661:991933047:1;SHGC-112031;SHGC-144166;SHGC-145006;SHGC-79875 ADAMTSL-1;ADAMTSR1;C9orf94;DKFZp686L03130;FLJ35283;FLJ41032;FLJ46891;MGC118803;MGC118805;MGC40193;PUNCTIN ADAM-TS related protein 1;ADAMTS-like 1;ADAMTS-like protein 1;OTTHUMP00000021085;OTTHUMP00000021086;OTTHUMP00000021088;OTTHUMP00000239538;punctin-1 APPROVED protein-coding ENSG00000178031 14632 16462 609198 VALIDATED 1351069 ADAMTSL4 ADAMTS-like 4 This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 1 1 q21.3 148788522 148800037 + 150521898 150533413 + 1580863;6480464;7240710 16364318;18029348;19200529;16710414;16335952;16189514;15498874;15489334;14702039;12975309;12706885;12477932;10842357;10737800;8889548;20702823;20564469;19060904;20141359;21051722;23088713;22338190;21989719;22736615;23426735;21988832 54507 F8WAD0;Q6UY14;Q9UFG7 ABBA01049348;AF217974;AF289612;AF370411;AI637480;AK023606;AK092509;AK293037;AL122085;AL356356;AL513944;AMYH01001379;AY358122;BC027478;BC071852;BC094811;BC140800;BC144581;BG005397;BM148104;BM721520;BX282114;BX370116;BX647294;CB960863;CB988088;CH471121;NG_012172;NM_019032;NM_025008 AAG17217;AAH27478;AAH71852;AAH94811;AAI40801;AAI44582;AAI67841;AAL55796;AAQ15247;AAQ88489;BAB14619;BAF85726;CAB59258;EAW53542;EAW53543;NP_061905;NP_079284;Q6UY14 Hs.516243 5015881;5493267 GDB:335751;UniSTS:485529 ECTOL2;TSRC1 ADAMTS-like protein 4;ADAMTSL-4;OTTHUMP00000032789;OTTHUMP00000032790;thrombospondin repeat containing 1;thrombospondin repeat-containing protein 1 APPROVED protein-coding ENSG00000143382 19706 08583;18237 225100;610113 REVIEWED 1313735 ADAMTSL5 ADAMTS-like 5 19 19 19 p13.3 1439031 1447215 - 1456023 1464019 - 1505017 1513188 - 6480464 17113583;15489334;14702039;12477932;19851296;20198315;19322201 339366 B4DXK7;K7EJ85;K7ELN4;K7ELV0;Q0VD77;Q6ZMM2 ABBA01002650;AC027307;AK131571;AK302020;AMYH01009252;BC040620;BC119796;BC139833;CH471139;DR979736;NM_213604 AAH40620;AAI19797;AAI39834;BAD18703;BAG63419;EAW69486;EAW69487;EAW69488;EAW69489;EAW69490;NP_998769;Q6ZMM2 Hs.371674 2124815 RH66645 THSD6 ADAMTS-like protein 5;ADAMTSL-5;thrombospondin type-1 domain-containing protein 6 protein-coding ENSG00000185761 27912 15504 VALIDATED 733651 ADAP1 ArfGAP with dual PH domains 1 7 7 p22.3 904066 960811 - 937537 994289 - 1580863;6480464;6484113 10333475;10448098;12018390;12893243;16805830;16341594;16287813;15778454;15679100;15489334;15106847;14702039;14690521;14625293;12761501;12565890;12499840;12477932;11869802;11278595;12062430;16169070;21057110;18298663;16176273;18029348;19423540;20406964;20438785;15003508;21801775;21906983;21900206;21972134 11033 C9JN36;F6XZ68;H0Y7Q1;H7BZT6;H7C264;H7C2Q4;H7C324;H7C4B3;O75689 AACC02000129;AB097049;ABBA01039307;ABBA01039308;ABBA01039309;ABBA01039310;ABBA01039311;AC073957;AF082324;AI910700;AJ006422;AK092471;AK124979;AK290517;AK300644;AK300859;AK300999;AMYH01016942;AMYH01016943;AMYH01016944;AMYH01016945;BC033747;CH236965;CH471144;CR975507;NM_006869 AAD11414;AAH33747;BAC77402;BAF83206;BAG52556;BAG54118;BAG62332;BAG62509;BAG62618;CAA07024;EAL23709;EAW87182;EAW87183;EAW87184;NP_006860;O75689 Hs.602573 1342067;1759585;1762945;1790725;1851203;2152496;2181759;7184427 D7S2474;GDB:1318184;GDB:3778207;HSC231_(nt989926);SHGC-146699;SHGC-151230;STS-R20738 CENTA1;GCS1L;p42IP4 OTTHUMP00000024998;OTTHUMP00000200049;arf-GAP with dual PH domain-containing protein 1;centaurin, alpha 1;centaurin-alpha;centaurin-alpha-1;cnt-a1;putative MAPK-activating protein PM25 protein-coding ENSG00000105963 16486 09733 608114 VALIDATED 1347708 ADARB2-AS1 ADARB2 antisense RNA 1 10 10 10 p15.3 1515577 1545999 + 1558825 1589184 + 1568825 1599179 + 16344560;11181995 642394 A8MUL3 ABBA01035246;AF086274;AL450386;AMYH01001976;CH471072;DA335457;NR_033387 A8MUL3;EAW86509;EAW86510;EAW86511 Hs.568831 C10orf109;NCRNA00168;bA466B20.1 APPROVED miscrna ENSG00000205696 23299 PREDICTED 734306 ADAP2 ArfGAP with dual PH domains 2 17 17 17 q11.2 26169680 26207134 + 26272880 26310337 + 29248754 29286211 + 1580863;6480464 14690521;12018390;16138909;19291764;19266077;18391951;17632510;15489334;12477932;10843809;8125298;16169070;20546612;18482256;20379614;18541383;20098747;17207965;21832049;23285209;19953087 55803 J3KST1;J3KT70;J3QLP8;J3QRA6;J3QRD3;K7ENT1;Q2V6Q1;Q9NPF8 ABBA01014977;AC138207;AJ238994;AJ242782;AJ272195;AK074196;AK074204;AK222526;AMYH01008318;BC033758;CH471147;DQ288859;NM_018404 AAH33758;ABB90599;ADQ32352;BAD96246;CAB77266;CAB88383;CAC40651;EAW80287;EAW80288;EAW80289;NP_060874;Q9NPF8 Hs.514063 1655147;1674966;1852359 RH35914;SHGC-34232;SHGC-35088 CENTA2;HSA272195;cent-b OTTHUMP00000163768;arf-GAP with dual PH domain-containing protein 2;centaurin beta;centaurin, alpha 2;centaurin-alpha 2 protein;centaurin-alpha-2;cnt-a2 protein-coding ENSG00000184060 16487 16357 608635 VALIDATED 732582 ADARB1 adenosine deaminase, RNA-specific, B1 This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008] 21 21 q22.3 45318943 45470902 + 46494493 46646478 + 1300255;1580863;6480464 10894545 9113993;9111310;8995285;8889548;8559253;11278278;10899322;9330696;9103436;19156214;18178553;17903307;17728516;17525170;17071493;16961545;16733555;16297572;16141067;15383678;15302935;14759258;14759252;14612560;12859334;12477932;12459255;12414985;12163487;11907222;11717408;10830953;9330641;9149227;9143496;21289159;20372915;19642681;19713932;20011587;20215858;20379614;21832049;22366356;19156129;21847096;21622951;21139048;22226999;22525274;22414730 104 C9JUP4;G5E9B4;P78555;Q4AE77;Q4AE81 AB194369;AB194370;AB194371;AB194372;AB194373;ABBA01074185;ABBA01074186;ABBA01074187;AF001042;AF525422;AF533142;AL133499;AL163301;AMYH01012305;AMYH01012306;AP001579;AY082339;AY135659;BC030663;BC046198;BC065545;BU726292;BX322560;CH471079;FJ169506;NM_001112;NM_001160230;NM_015833;NM_015834;NR_027672;NR_027673;NR_027674;NR_073200;U73197;U76420;U76421;U76422;U82120;U82121;X99227;X99383;Z95973;Z95974;Z95975;Z95976 AAB18134;AAB58300;AAB61686;AAB61687;AAC51240;AAC51241;AAC51242;AAH65545;AAL99252;AAM83100;AAM97654;AAN10291;ACN49027;BAE16325;BAE16326;BAE16327;BAE16328;BAE16329;CAA67611;CAA67762;CAB09392;CAB90493;EAX09357;EAX09358;EAX09359;EAX09360;EAX09361;EAX09362;NP_001103;NP_001153702;NP_056648;NP_056649;P78563 Hs.474018 1661486;1674950;1683451;1724749;1735022;1776088;1795312 ADARB1_1459;Cda0pa11;D21S1720E;G23228;RH122581;RH80251;SHGC-87694 ADAR2;DRABA2;DRADA2;RED1 OTTHUMP00000115339;OTTHUMP00000115340;OTTHUMP00000115341;OTTHUMP00000115342;OTTHUMP00000174981;OTTHUMP00000214128;RED1 homolog;RNA editase;RNA editing deaminase 1;RNA-editing deaminase 1;RNA-editing enzyme 1;adenosine deaminase, RNA-specific, B1 (RED1 homolog rat);adenosine deaminase, RNA-specific, B1 (homolog of rat RED1);adenosine deaminase, rna-specific, b1;double-stranded RNA-specific editase 1;dsRNA adenosine deaminase;dsRNA adenosine deaminase DRADA2;human dsRNA adenosine deaminase DRADA2 APPROVED protein-coding ENSG00000197381 226 06777 601218 VALIDATED 736199 ADARB2 adenosine deaminase, RNA-specific, B2 (non-functional) This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008] 10 10 10 p15.3 1177236 1724446 - 1218073 1769670 - 1223253 1779670 - 1580863;6480464 20709820;10836796;16344560;15635413;15164054;14702039;12477932;9272162;8889549;11278278;10899322;9330696;9103436;16385451;19197348;20011587;20379614;18029348;20923822;23400010;17000644;22210125 105 Q5VW42;Q5VW43;Q9NS39 ABBA01035244;ABBA01035245;ABBA01035246;ABBA01035247;ABBA01035248;ABBA01035249;ABBA01035250;ABBA01035251;ABBA01035252;ABBA01035253;ABBA01035254;ABBA01035255;ABBA01035256;ABBA01035257;ABBA01035258;AC026224;AF034837;AI695657;AK055107;AK057763;AK094294;AK123334;AK289895;AK307451;AK308579;AL392083;AL442069;AL450386;AL513304;AMYH01001976;BC047443;BC137477;BC139725;BC140852;CH471072;DA533361;NM_018702 AAF78094;AAH47443;AAI37478;AAI39726;AAI40853;BAF82584;BAG51468;EAW86508;NP_061172;Q9NS39 Hs.586663 1335346;1338445;1338918;1339005;1680821;1725159;1731030;1759039;1762147;1762273;1763071;1764815;1765637;1766189;1766409;1853461;2152937;2167253;2177490;2183076;7185318;7185548;7187595 D10S1474;D10S2479;D10S262;D10S526;D10S559;D10S594;RH124062;RH66275;RH98543;SGC36944;SHGC-146044;SHGC-146129;SHGC-146806;SHGC-148380;SHGC-149080;SHGC-149557;SHGC-149750;SHGC-150618;SHGC-58206;WI-21857 ADAR3;FLJ25034;FLJ36975;FLJ41340;RED2;hRED2 OTTHUMP00000018961;RED2 homolog;RNA-dependent adenosine deaminase 3;RNA-editing deaminase 2;RNA-editing enzyme 2;adenosine deaminase, RNA-specific, B2 (RED1 homolog rat);adenosine deaminase, RNA-specific, B2 (RED2 homolog rat);adenosine deaminase, rna-specific, b2;double-stranded RNA-specific editase B2;dsRNA adenosine deaminase B2;homolog of rat BLUE APPROVED protein-coding 227 09070 602065 REVIEWED 1603369 ADAT3 adenosine deaminase, tRNA-specific 3 19 19 19 p13.3 1839500 1847520 + 1856417 1864446 + 1905371 1913446 + 6480464 12477932;12457566;20946988;21988832 113179 C9JFC1;D6W601;Q96EY9 ABBA01002692;AC012615;AMYH01009269;BC011824;CH471139;HY030731;NM_138422 AAH11824;EAW69434;EAW69436;EAW69438;NP_612431;Q96EY9 Hs.144980 FWP005;MRT36;MST121;MSTP121;S863-5;TAD3 OTTHUMP00000206203;OTTHUMP00000206204;adenosine deaminase, tRNA-specific 3, TAD3 homolog;probable inactive tRNA-specific adenosine deaminase-like protein 3;tRNA-specific adenosine deaminase 3 homolog;tRNA-specific adenosine deaminase-like protein 3;tRNA-specific adenosine-34 deaminase subunit ADAT3 APPROVED protein-coding ENSG00000213638 25151 14000 615286;615302 VALIDATED 736989 ADAR adenosine deaminase, RNA-specific This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] 1 1 q21.3 152821157 152867061 - 154554533 154600456 - 1559268;1300254;6480464;6907045;7240710 12916015;11099415 22885375;22993189;7565688;9020165;18029348;19434718;19124606;18835380;18799292;18753201;18705826;18627385;18362360;18243666;18178553;17698644;17680540;17569068;17478391;17225010;17081983;17079286;17033168;17021765;17020943;16964243;16917490;16886895;16475990;16133458;16120648;16055709;15955093;15724015;15723802;15659327;15635413;15556947;15489334;15342791;15146470;15102079;14711814;14702039;12954622;12702817;12665561;12618436;12477932;12453429;12447867;12429827;12414985;12396729;12243919;11907222;11752786;11604520;11593027;11451992;11421361;10535945;10364558;10200312;9735305;9237992;8586444;7972084;7862132;7618288;7490742;3175763;11278278;10899322;9330696;9103436;22446626;21269755;21316340;19559055;19605474;19637911;19667218;19710021;19713932;19733181;19913273;20069304;20379614;16344560;20590675;20844743;20805743;20430589;20439151;20588308;20186421;20300939;20875819;20708476;19454010;20802353;21159878;20931541;21083709;21217697;18422172;22039911;21301145;21587236;21490091;20586835;22336994;22821605;21081666;21933234;19596686;21924887;19471022;22278222;21139048;21890473;21906983;23455922;23728176;23752268;22022963;21252943;19322201;22077581;15858013;19651874;21145461;23115276;21963094;21988832;22751105;23000965;23001123;23075647;23275297;22939629;22833565;23474544;22104209;22174317;22505724;22843049;23079620 103 E7ENU4;H0YCK3;Q9BYM4 AA449679;AB209891;ABBA01049490;ABBA01049491;AF084516;AK097241;AK304153;AL592078;AL606500;AL691488;AMYH01001419;BC017853;BC038227;BE886208;BU430287;BX538232;BX640741;CD108625;CH471121;CR982397;DA507408;DR158819;EF190448;EF190449;EF190450;EF190452;EF190453;NG_011844;NM_001025107;NM_001111;NM_001193495;NM_015840;NM_015841;U10439;U18121;U75503;X79448;X79449;X98559;X98563 AAB06697;AAB97116;AAB97117;AAB97118;AAC13782;AAH38227;ABM73519;ABM73520;ABW03600;ABW03910;BAD93128;BAH14119;CAA55967;CAA55968;CAA67169;CAA67170;CAD98075;CAE45853;EAW53183;EAW53184;EAW53185;EAW53186;EAW53187;EAW53188;EAW53189;EAW53190;NP_001020278;NP_001102;NP_001180424;NP_056655;NP_056656;P55265 Hs.12341 1651674;1663568;1664996;1725591;1734862;1735582;1758591;1767948;1773796;2121520;2127470;5022578;5022651;5037552 A002O29;Cda01b01;D11S2921;D1S1423;D1S1794E;D1S1878E;D8S2279;G62017;RH11954;RH70556;SHGC-12950;SHGC-148872;SHGC-2343;SHGC-32043 ADAR1;AGS6;DRADA;DSH;DSRAD;G1P1;IFI-4;IFI4;K88dsRBP;P136 136 kDa double-stranded RNA binding protein;136 kDa double-stranded RNA-binding protein;OTTHUMP00000035372;OTTHUMP00000035373;OTTHUMP00000231779;adenosine deaminase acting on RNA 1-A;double-stranded RNA-specific adenosine deaminase;dsRNA adenosine deaminase;interferon-induced protein 4;interferon-inducible protein 4 APPROVED protein-coding ENSG00000160710 225 07528 127400;146920;615010 REVIEWED 1320789 ADAT1 adenosine deaminase, tRNA-specific 1 This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-specific adenosine deaminase 1, is responsible for the deamination of adenosine 37 to inosine in eukaryotic tRNA. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] 16 16 16 q23.1 59926593 59951568 - 74190499 74214655 - 75632247 75657221 - 6480464 10430867;14702039;12477932;19844255;21890473;21906983;21963094;19322201 23536 H3BNT8;H3BP18;H3BP27;H3BSM1;H3BU72;H3BV89;Q9BUB4 ABBA01017057;AC025287;AF125188;AK001687;AK296834;AK314652;AMYH01007821;BC002758;CH471114;DC395938;NM_012091;NR_036460 AAD48376;AAH02758;ABM83927;ABM87246;BAA91837;BAG37213;BAG59404;EAW95625;EAW95626;EAW95627;NP_036223;Q9BUB4 Hs.729312 1728109;5020946;5020948;5022450;5022578;5037552 D10S275;D1S1423;D8S2279;G35510;G63326;L17971 HADAT1 OTTHUMP00000174951;adenosine deaminase acting on tRNA;tRNA-specific adenosine deaminase 1;tRNA-specific adenosine-37 deaminase APPROVED protein-coding 228 11970 604230 REVIEWED 1320091 ADAT2 adenosine deaminase, tRNA-specific 2 6 6 6 q24.2 144484388 144512268 - 143785662 143813534 - 143743969 143771841 - 6480464 16344560;12477932;12457566;11181995;8889548;20581866;21832049 134637 Q7Z6V4;Q7Z6V5 ABBA01025748;AK126201;AL031320;AMYH01016721;BC037955;BM680217;BX538182;CH471051;DA100320;NM_182503 AAH37955;ACE86534;ACE87213;BAG54295;CAD98054;EAW47867;EAW47868;NP_872309;Q7Z6V5 Hs.709561 2114663;2139618;2142144;2151148;2184453 A008M31;RH46441;RH64939;SHGC-34012;STS-Z40866 DEADC1;DKFZp686L1118;FLJ44213;TAD2;dJ20N2;dJ20N2.1 OTTHUMP00000017329;adenosine deaminase, tRNA-specific 2, TAD2 homolog;deaminase domain containing 1;deaminase domain-containing protein 1;tRNA-specific adenosine deaminase 2;tRNA-specific adenosine deaminase 2 homolog;tRNA-specific adenosine-34 deaminase subunit ADAT2 APPROVED protein-coding 21172 VALIDATED 1350082 ADCP1 adenosine deaminase complexing protein 1 279003 106 229 1606188 ADC arginine decarboxylase 1 1 p35.1 33319301 33358582 + 33546714 33585995 + 6480464;6907045 11587527;18330478;17900240;17582600;17558447;16916800;16710414;15670771;15489334;14763899;14738999;14702039;12477932;11853319;19756694;19956990;20147969;20188728;19832840 113451 Q96L55 AB075825;ABBA01023386;AK057051;AK095127;AK122697;AK315677;AL020995;AL832640;AMYH01000477;AY050634;AY050635;AY050636;AY050637;AY050638;AY325129;BC010449;BC028128;CH471059;NM_052998 AAH10449;AAH28128;AAL08049;AAL08050;AAL08051;AAL08052;AAL08053;AAQ62560;ABM82980;ABM86174;BAB71356;BAB85531;BAC04489;BAG38042;BAG53674;EAX07469;EAX07470;EAX07471;EAX07472;EAX07473;EAX07474;EAX07475;EAX07476;EAX07477;EAX07478;EAX07479;EAX07480;EAX07481;EAX07482;NP_443724;Q96A70 Hs.101807 1732806;1775422;1856950;2124781 D1S1259;SHGC-74540;SHGC-74543;SHGC-74552 AZI2;KIAA1945;ODC-p;ODC1L ARGDC;ODC antizyme inhibitor-2;ODC-paralogue;OTTHUMP00000004284;OTTHUMP00000004285;OTTHUMP00000004286;antizyme inhibitor 2;arginine decarboxylase;ornithine decarboxylase like;ornithine decarboxylase-like protein;ornithine decarboxylase-paralog protein-coding ENSG00000142920 29957 17657 608353 VALIDATED 1317936 ADCK1 aarF domain containing kinase 1 14 14 14 q24.3 58304590 58438453 + 77336227 77470047 + 78266426 78400297 + 1580863;6480464 15489334;15203218;14702039;12477932;12471243;16169070;20877624 57143 F8W9Q8;G3V3J2;G3V426;Q86TW2 ABBA01030641;ABBA01030642;ABBA01030643;AC008372;AI866496;AK096919;AK126928;AK299430;AMYH01005885;AMYH01005886;AMYH01005887;BC017459;BC058906;BX248292;CD630155;CH471061;DN996748;NM_001142545;NM_020421 AAF23326;AAH58906;BAG53397;BAG61409;CAD62620;EAW81309;EAW81310;NP_001136017;NP_065154;Q86TW2 Hs.413208 1341749;1774344;1846828;1847615;2122340;2142940;2143865;2151521;2163173;2180641;2184606;7186113 A006C45;D14S254;D14S873;G29191;G35597;G35801;G35941;G36044;G36065;G36087;WI-11547 FLJ39600 OTTHUMP00000246285;OTTHUMP00000246289;aarF domain containing kinase 1;uncharacterized aarF domain-containing protein kinase 1 protein-coding ENSG00000063761 19038 10630 VALIDATED 1322312 ADCK2 aarF domain containing kinase 2 7 7 7 q34 135095002 135116957 + 140019422 140041377 + 140372953 140394908 + 6480464 15489334;12853948;12690205;12477932;9110174;8619474;20877624;15324660;22118674 90956 A4D1T6;C9JE15;H7C4I2;H7C5M5;Q7Z695 AACC02000020;ABBA01034085;AC006344;AC006452;AF131745;AMYH01017991;AY302592;BC014107;CH236950;CH471070;NM_052853 AAD43192;AAH14107;AAP60021;EAL24025;EAW83956;EAW83957;NP_443085;Q7Z695 Hs.534141 1652244;2135183 D4S3183;D7S2105E AARF;MGC20727 OTTHUMP00000212102;OTTHUMP00000212103;OTTHUMP00000212104;OTTHUMP00000212105;aarF domain containing kinase 2;putative ubiquinone biosynthesis protein AarF;uncharacterized aarF domain-containing protein kinase 2 protein-coding ENSG00000133597 19039 10631 VALIDATED 1313570 ADCK5 aarF domain containing kinase 5 8 8 8 q24.3 141773087 141792916 + 145568539 145589265 + 145597731 145618457 + 6480464 14702039;16421571;15489334;12477932;20877624 203054 B3KS46;E9PJ20;E9PLF3;Q3MIX3;R4GN53 ABBA01005207;ABBA01005208;ABBA01005209;AC233992;AF205589;AK092773;AMYH01019151;BC031570;BC032402;BC064345;BC085013;BC101659;BC143322;BC143326;BI825038;BM146288;BU845476;CH471162;NM_174922 AAH31570;AAH64345;AAH85013;AAI01660;ADZ15774;BAG52608;EAW82111;EAW82112;EAW82113;EAW82114;NP_777582;Q3MIX3 Hs.283374 1701588 RH104428 FLJ35454;MGC126708 OTTHUMP00000228830;aarF domain containing kinase 5;uncharacterized aarF domain-containing protein kinase 5 protein-coding ENSG00000173137 21738 12427 VALIDATED 1319601 ADCY1 adenylate cyclase 1 (brain) This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 7 7 p13-p12 45580646 45729237 + 45614125 45762715 + 1580863;2312469;6480464;6484113;6907045 18948702 8314585;12626323;19156168;19058789;19029295;17586501;16531006;15361543;15133516;14702039;12853948;12743114;12690205;12503609;12477932;11549699;11299302;8692867;7959689;2121366;10808179;10807185;10089566;11884542;14993377;19726641;19834535;2165385;7937899;8476432;8663304;9417641;20554763 107 C9J1J0;Q08828;Q59FG4;Q8NFM5 AACC02000109;AACC02000110;AB209496;ABBA01058250;AC069008;AC091439;AF086306;AF497515;AK024415;AK055343;AK095518;AK095665;AL707720;AMYH01017223;AMYH01017224;AW956248;BC036858;BC041473;BU181704;CH236960;CH471128;L05500;NM_001281768;NM_021116 AAA02907;AAM94372;AAS07467;BAD92733;EAL23741;EAW61042;EAW61043;EAW61044;EAW61045;EAW61046;EAW61047;NP_001268697;NP_066939;Q08828 Hs.192215 1643704;1656579;1675862;1683261;1758073;1764905;1795314;1848973;1848975;2125198;2126279;2130382;2142484;2160364;2184085;5022578;5024039;7186078 A001Y39;A008R05;ADCY1_682;AFM158xb12;D16S325;D1S1423;D7S536E;G19797;RH80785;RH99222;SHGC-147274;SHGC-148462;SHGC-57854;STS-R59992;STS-Z41290;WI-11127;WI-18399 AC1 3',5'-cyclic AMP synthetase;ATP pyrophosphate-lyase 1;Ca(2+)/calmodulin-activated adenylyl cyclase;OTTHUMP00000207996;adenyl cyclase;adenylate cyclase type 1;adenylate cyclase type I;adenylyl cyclase 1 APPROVED protein-coding ENSG00000164742 232 00053 103072 REVIEWED 1343862 ADCK3 aarF domain containing kinase 3 This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 200318754 200366064 + 225194561 225241869 + 227127938 227175246 + 1580863;6480464;7240710 18319074;15498874;18319072;16710414;16344560;16189514;15489334;14702039;12477932;11888884;20877624;21296186;23383273;20186120;21903422;22036850;21139048;21890473 56997 E7EVZ8;Q5T7A2;Q5T7A4;Q8NI60 AB073905;ABBA01009622;ABBA01009623;ABBA01009624;ABBA01009625;AF218003;AI888739;AJ278126;AK074693;AK090494;AK092784;AK126200;AK293571;AK297735;AK300537;AK301012;AL137511;AL353689;AMYH01001779;BC005171;BC129930;BX648860;CH471098;DA925261;NG_012825;NM_020247 AAG17245;AAH05171;AAI29931;BAB91363;BAC11143;BAG52171;BAG57042;BAG60085;BAG62245;BAG62629;CAC00482;CAH56132;EAW69801;EAW69802;EAW69803;EAW69804;EAW69805;NP_064632;Q8NI60 Hs.118241 1692500;1700602;1769605;1775527;2128416 AL033902;Bdy96e07;RH103923;RH16026;RH41876 ARCA2;CABC1;COQ10D4;COQ8;MGC4849;SCAR9 OTTHUMP00000035734;OTTHUMP00000035735;OTTHUMP00000035736;OTTHUMP00000035737;OTTHUMP00000038685;aarF domain-containing protein kinase 3;chaperone activity of bc1 complex-like, mitochondrial;chaperone, ABC1 activity of bc1 complex homolog;chaperone, abc1 activity of bc1 complex like (s. pombe);chaperone-ABC1-like;coenzyme Q8 homolog APPROVED protein-coding ENSG00000163050 16812 07375 606980;612016 REVIEWED 2303886 ADCY10P1 adenylate cyclase 10 (soluble) pseudogene 1 6 6 6 p21.1 42621455 42661263 + 41208063 41214965 + 41068773 41108573 + 12477932 221442 ABBA01050760;AI243114;AK126092;AK128294;AL031778;AL133404;AL833650;AMYH01016291;BC126399;BX537595;BX648193;NR_026938 BAC87372 Hs.374076 1675636;1694190;1725007;1849212;2171713;2181246;2183117;5014051;5021872;5022200;5037552 AL035168;D6S1115E;D6S1425;D6S2155;D8S2278;D8S2279;L18426;RH118799;RH46298;RH98544;sY3084 FLJ46432 APPROVED pseudo ENSG00000161912 44143 17323 VALIDATED 737484 ADCY10 adenylate cyclase 10 (soluble) The protein encoded by this gene belongs to a distinct class of mammalian adenylyl cyclase that is soluble and insensitive to G protein or forskolin regulation. It is thought to function as a general bicarbonate sensor throughout the body. It may also play an important role in the generation of cAMP in spermatozoa, implying possible roles in sperm maturation through the epididymis, capacitation, hypermotility, and/or the acrosome reaction. Genetic variations in this gene are associated with absorptive hypercalciuria type 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009] 1 1 q24 166045506 166149964 - 167778625 167883453 - 2312469;6480464;6907045 18948702 9874775;19093065;19064610;18209474;17591988;16344560;16144836;12958208;12609998;12477932;12475901;11932268;11875252;11423534;10915626;10737962;10446129;9694905;12626323;14993377;19536175;20130594;20379614;2165385;7937899;8663304;9417641;21994938;22775536;23255611 55811 Q96PN6 ABBA01047239;ABBA01047240;ABBA01047241;AF176813;AF271058;AF299350;AF331033;AK302884;AK310395;AK310531;AL035122;AMYH01001484;BC117366;BC117372;CH471067;DB063660;NG_016139;NM_001167749;NM_018417;Z97876;Z99943 AAF65931;AAF74296;AAI17367;AAI17373;AAK96045;AAL57036;BAG64062;CAA22684;EAW90804;EAW90805;EAW90806;EAW90807;NP_001161221;NP_060887;Q96PN6 Hs.320892 1336589;1774711;2138878;7186020 AL009926;D1S431;SHGC-75875 HCA2;RP1-313L4.2;SAC;SACI;Sacy 3',5'-cyclic AMP synthetase;AH-related protein;ATP pyrophosphate-lyase;OTTHUMP00000032525;OTTHUMP00000032526;adenylate cyclase type 10;germ cell soluble adenylyl cyclase;hsAC;testicular soluble adenylyl cyclase;testicular soluble adenylyl cyclase (SAC) APPROVED protein-coding ENSG00000143199 21285 05549 605205 REVIEWED 1322771 ADCK4 aarF domain containing kinase 4 This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 19 19 19 q13.2 37997846 38023215 - 45889274 45914440 - 41197434 41222790 - 1580863;6480464 16344560;15489334;14702039;12477932;9110174;8619474;12107410;20877624;23088713;21890473;22081228 79934 M0QZZ2;M0R001;M0R011;M0R0F4;M0R0L2;M0R2F4;M0R307;M0R340;M0R362;M0R3F7;Q96D53 ABBA01040785;ABBA01040786;AC010412;AF052122;AK022291;AK057199;AMYH01009807;AU121879;BC013114;BC013884;BC027473;CA397752;CH471126;NG_027800;NM_001142555;NM_024876 AAH13114;AAH27473;ABM82617;ABM85800;BAB14004;EAW56987;EAW56988;EAW56989;EAW56990;EAW56991;NP_001136027;NP_079152;Q96D53 Hs.130712 1681620;1700548;1778582;1779706 G34996;RH103895;RH75304;SHGC-153683 FLJ12229 aarF domain containing kinase 4;uncharacterized aarF domain-containing protein kinase 4 APPROVED protein-coding ENSG00000123815 19041 10632 REVIEWED 736882 ADCY5 adenylate cyclase 5 This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 3 3 q21.1 124486089 124650082 - 123001143 123167392 - 1300048;2315006;2312469;2315004;6480464;6484113;6907045 10894801;18948702;17010343 22581228;22693455;17110384;16973443;16641997;14702039;12604604;12503609;11299302;10481931;9748257;9275169;9268375;8206971;8034296;7759492;10808179;10807185;10089566;11549699;11884542;14993377;20081857;20081858;20372150;20419449;20490451;8663304;20571754;19783621;20231277;20484983;20889853;21115086;11590159;21307140;21712988;21789219;21887289;21949744;21890473;22250198;23202124;23251661;22505724;22956255 111 B3KWA8;B7Z2C7;C9JQ38;C9JRT8;F8WBM0;O95622 ABBA01016458;ABBA01016459;ABBA01016460;ABBA01016461;AC025571;AC112503;AF497517;AK093840;AK098381;AK124691;AK294565;AK302711;AK303070;AK316488;AMYH01013432;AMYH01013433;AMYH01013434;BK000371;BX647739;CH471052;NM_001199642;NM_183357;U65473 AAD00121;AAI56218;AAM94374;BAG52770;BAG54070;BAH11813;BAH13787;BAH13892;BAH14859;DAA00057;EAW79450;NP_001186571;NP_899200;O95622 Hs.593292 1337511;1685089;1731687;1761599;1764683;1765315;1766129;2134391;7185142;7187409 D3S1267;D3S1672;D3S2896E;RH91460;SHGC-145592;SHGC-148276;SHGC-148807;SHGC-149509 AC5;FDFM ATP pyrophosphate-lyase 5;OTTHUMP00000215640;OTTHUMP00000215641;OTTHUMP00000215642;OTTHUMP00000215643;adenylate cyclase type 5;adenylate cyclase type V;adenylate cyclase, type V;adenylyl cyclase 5 APPROVED protein-coding ENSG00000173175 236 08973 600293;606703 REVIEWED 734219 ADCY2 adenylate cyclase 2 (brain) This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq, Jul 2008] 5 5 p15.3 7449343 7883194 + 7396343 7830194 + 1298711;1580863;1300048;2312469;6480464;6484113;6907045 1427768;18948702 19156168;18519826;16344560;15489334;14702039;12503609;12477932;11549699;22589738;11299302;10470851;9268375;9110174;8692867;8619474;7959689;10808179;10807185;10089566;11884542;20664520;12626323;14993377;20379614;2165385;7937899;8663304;9417641;21228062;22461431;21528083;22864933 108 B7Z2C1;D6REB8;H0YA58;Q08462;Q71UM8 AB028983;ABBA01016160;ABBA01016161;ABBA01020576;AC010346;AC010437;AC024577;AC093305;AC113366;AF070583;AF410885;AK123013;AK127036;AK294555;AK295531;AK299775;AK304041;AK307474;AMYH01014886;AMYH01014887;AMYH01014888;AMYH01014889;AMYH01014890;AMYH01014891;BC111743;BE677757;BK000372;CH471102;CR749634;CS072119;DB029098;DB481853;L21993;NM_020546;X74210 AAA64923;AAC28647;AAI11744;AAP97285;BAA83012;BAG53849;BAG58443;BAG61658;BAG64952;BAH11807;CAA52282;CAH18428;CAI93390;DAA00058;EAX08097;NP_065433;Q08462 Hs.481545 1340824;1342327;1644881;1650515;1655774;1656086;1667880;1678891;1735488;1748495;1750647;1762259;1763561;1765651;1766449;1766869;1782670;1785632;2112218;2113780;2130437;2141771;2150967;2218184;5014051;5015619;5016700;5022200;5037552;5117897;7186456 ADCY2;ADCY2_4036;D11S3114;D5S1607E;D5S1736;D5S1866;D5S1953;D5S2572;D5S2717;D5S2784;D5S676;D8S2278;D8S2279;GDB:631813;L18426;RH15976;RH26804;RH78017;RH79802;SHGC-111957;SHGC-146119;SHGC-147265;SHGC-149093;SHGC-149779;SHGC-152285;SHGC-153179;SHGC-156108;SHGC-23973;SHGC-30499;STS-L21993 AC2;FLJ16822;FLJ45092;HBAC2;KIAA1060;MGC133314 3',5'-cyclic AMP synthetase;ATP pyrophosphate-lyase 2;OTTHUMP00000115545;adenylate cyclase II;adenylate cyclase type 2;adenylate cyclase type II;adenylyl cyclase 2;type II adenylate cyclase APPROVED protein-coding ENSG00000078295 233 00052 103071 REVIEWED 733733 ADCY8 adenylate cyclase 8 (brain) Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008] 8 8 q24 131861729 132123854 - 131792547 132052835 - 1580863;1300048;2312469;6480464;6484113;6907045 18948702 8163524;12626323;8076676;19171672;19156168;19029295;18480272;18163389;17586501;16613843;16258073;12890691;12503609;12477932;11457491;11299302;11076863;10075700;1715695;1427768;10808179;10807185;10089566;11884542;22494970;21046358;14993377;19691954;20379614;2165385;7937899;8476432;8663304;9417641;20677014;20410303;21116278;20675917 114 E5RFR2;E7EVL1;P40145;Q4F7X0 ABBA01014221;ABBA01014222;ABBA01032442;ABBA01032443;AC011974;AC037453;AC087341;AC103726;AMYH01019031;AMYH01019032;CH471060;DQ104739;DR003657;M83533;NM_001115;Z35309 AAA35523;AAI11457;AAZ13596;CAA84552;EAW92135;NP_001106;P40145 Hs.591859 1340426;1653579;1717851;1721875;1763807;1764845;1786884;5094380;5109507;5125367 D8S1092;D8S1208;D8S1765;G54644;G59968;RH122757;SHGC-147478;SHGC-148407;SHGC-36821;SHGC-85246 AC8;ADCY3;HBAC1 ATP pyrophosphate-lyase 8;OTTHUMP00000227393;OTTHUMP00000227394;adenylate cyclase type 8;adenylate cyclase type VIII;adenylyl cyclase 8;adenylyl cyclase-8, brain;ca(2+)/calmodulin-activated adenylyl cyclase APPROVED protein-coding ENSG00000155897 239 00051 103070 REVIEWED 736108 ADCY4 adenylate cyclase 4 This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] 14 14 14 q12 4652191 4668489 - 23857410 23873704 - 24787555 24804277 - 1580863;1300048;2312469;6480464;6484113;6907045 18948702 15489334;14702039;12503609;12477932;11549699;11299302;11055432;7959689;7766992;10808179;10807185;10089566;11884542;21228062;12626323;14993377;17081159;2165385;8663304;9417641 196883 G3V258;G3V262;H0YJ57;H0YLM0;H0YN72;Q6ZTM6;Q86TZ7;Q8NFM4 ABBA01061341;AF086230;AF088070;AF497516;AK056745;AK122714;AK126468;AK131333;AL096870;AMYH01005611;BC015982;BC027943;BC117473;BC117475;BC143947;BX248285;BX537489;CH471078;NM_001198568;NM_001198592;NM_139247 AAH15982;AAI17474;AAI17476;AAM94373;BAB71270;BAC86560;BAD18492;BAG53686;CAD62613;EAW66023;EAW66024;EAW66025;EAW66026;EAW66027;EAW66028;NP_001185497;NP_001185521;NP_640340;Q8NFM4 Hs.443428 1678505;1679333;2191647 MARC_3911-3912:996679167:1;RH91896;RH93999 AC4 ATP pyrophosphate-lyase 4;OTTHUMP00000164788;OTTHUMP00000246779;OTTHUMP00000246890;adenylate cyclase type 4;adenylate cyclase type IV;adenylyl cyclase 4 APPROVED protein-coding ENSG00000129467 235 11614 600292 REVIEWED 1312370 ADCY9 adenylate cyclase 9 Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008] 16 16 p13.3 3952653 4106187 - 4012650 4166186 - 1358365;1580863;2312469;6480464;6484113;6907045 11840511;18948702 9628827;19156168;16344560;15879435;14996950;12972952;12503609;12168954;12082561;11299302;9628581;8662814;10808179;10807185;10089566;11884542;12477932;12626323;14993377;20175803;20459687;20522523;2165385;8663304;9417641;14702039;20101707;20157112;20935630;17081983;21890473;21906983;21987572;22778270 115 I3L300;I3L342;I3NI20;O60503 AB011092;ABBA01026755;ABBA01026756;ABBA01026757;AC005736;AF036927;AJ133123;AK022108;AMYH01007099;AU141090;AW518323;AY028959;BC068612;BC136657;BC136658;BC151207;BC151229;BI770493;BQ614080;CH471112;DQ005545;DQ008441;NG_011434;NM_001116 AAC24201;AAI36658;AAI36659;AAI51208;AAI51230;AAK29464;AAY21237;AAY27880;BAA25446;CAB65084;EAW85331;EAW85332;NP_001107;O60503 Hs.391860;Hs.610484 1340965;1683249;1688909;1697078;1722865;1773695;1795320;2127655;2128121;2134551;2144352;2149761;2166852;2172756;2187078;5014039 1952;ADCY9_213;D16S2995;D16S3027;D16S3328;D16S758;D22S1584;G35540;G35896;G60525;RH102020;RH15630;RH47122;RH64918;RH68479;STS-Z40718 AC9;FLJ12046 ATP pyrophosphate-lyase 9;adenylate cyclase type 9;adenylate cyclase type IX;adenylyl cyclase 9;type IX ATP pyrophosphate-lyase APPROVED protein-coding ENSG00000162104 240 04489 603302 REVIEWED 735837 ADCY6 adenylate cyclase 6 This gene encodes adenylate cyclase 6, which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). The expression of this gene is found in normal thyroid and brain tissues, as well as some tumors; and its expression is significantly higher in one hyperfunctioning thyroid tumor than in normal thyroid tissue. Alternative splicing generates 2 transcript variants. [provided by RefSeq, Jul 2008] 12 12 q12-q13 47446248 47469087 - 49159975 49182820 - 1580863;1300048;2312469;2312654;2313211;2315006;2315004;2312656;6480464;6484113;6907045 18948702;18971210;15579502;10894801;17010343;18431594 19007881;18936250;17916776;17110384;17007567;16973443;16885208;16713569;16631311;15489334;15470083;15302935;14871025;12782409;12748066;12503609;12477932;12168954;11549699;11299302;11162902;10978539;10481931;9920805;9455477;9388262;9228084;8125298;8034296;7959689;10808179;10807185;10089566;11884542;12626323;14993377;19546162;2165385;7937899;8663304;9417641;17081159;20861226;20732959;21228062;18403039;21139048;21890473 112 F8VZJ5;O43306 AB007882;ABBA01031485;ABBA01031486;ABBA01031487;AC117498;AF250226;AF250227;AK225224;AK294446;AMYH01004435;BC064923;BF511227;BX537664;CH471111;NM_015270;NM_020983;U65474 AAD00122;AAF82478;AAF82479;BAA24852;BAG57685;EAW58001;EAW58002;NP_056085;NP_066193;O43306 Hs.525401;Hs.694408 1767552;1795318;2155033;5015861;7185938 A006M44;ADCY6_211;D10S16;RH78534 AC6;DKFZp779F075;KIAA0422 ATP pyrophosphate-lyase 6;OTTHUMP00000243669;OTTHUMP00000243670;adenylate cyclase type 6;adenylate cyclase type VI;adenylyl cyclase 6;ca(2+)-inhibitable adenylyl cyclase APPROVED protein-coding ENSG00000174233 237 02621 600294 REVIEWED 732499 ADCY3 adenylate cyclase 3 This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. [provided by RefSeq, Jul 2008] 2 2 p23.3 24895542 24995559 - 25042038 25142055 - 70798;704368;1580863;2312469;6480464;6484113;6907045 2255909;12798295;18948702 15815621;15489334;14702039;12782409;12623444;12503609;12477932;12122055;11549699;11299302;11162902;9768837;9628581;8798667;8476432;8034296;7959689;10808179;10807185;10089566;11884542;9920776;18391951;17895882;17586501;17581954;16344560;16303743;12626323;14993377;19576885;20201924;2165385;7937899;8663304;9417641;20935630;21042317;21079816;21139048;21890473;21906983;23077041;21980299;22344219;20467438;21963094;23128233;23449627 109 B3KT86;C9J8E0;C9J969;C9JEN9;C9JLX3;C9JYB5;H7C1A6;H7C1S5;O60266 AB011083;ABBA01045122;ABBA01045123;AC012073;AF033861;AK027857;AK075424;AK095173;AK122926;AMYH01010174;AMYH01010175;BC020148;BC126235;BC144119;CH471053;DA864173;NM_004036 AAD13403;AAI26236;AAI44120;AAY14787;ADR83435;BAA25437;BAC11613;BAG51385;BAG52998;BAG53802;EAX00739;EAX00740;EAX00741;NP_004027;O60266 Hs.467898 1335258;1342376;1648033;1660957;1688118;1759405;1795316;1797268;1847858;2145529;5092800 A006F11;ADCY3_1034;ADCY3_2051;D17S757;D2S2168;D5S2617;G32338;RH36332;RH80427;SHGC-150739;WI-11275 AC3;KIAA0511 AC-III;ATP pyrophosphate-lyase 3;OTTHUMP00000119992;OTTHUMP00000201145;adenylate cyclase type 3;adenylate cyclase type III;adenylate cyclase, olfactive type;adenylyl cyclase 3;adenylyl cyclase, type III APPROVED protein-coding ENSG00000138031 234 02620 600291 REVIEWED 1352182 ADFN albinism-deafness syndrome 7240710 122 247 735780 ADCY7 adenylate cyclase 7 This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. [provided by RefSeq, Jul 2008] 16 16 q12.1 48879324 48909544 + 50321823 50352043 + 1298709;1580863;2312469;6480464;6484113;6907045 7860067;18948702 19008230;18541530;17135423;16344560;15581358;15489334;14702039;12503609;12477932;12454008;11665607;11299302;9034014;7584028;7584026;10808179;10807185;10089566;11884542;22264442;11113152;12626323;14993377;17760784;19874574;2165385;7937899;8663304;9417641;21822266;21481845;21139048;21890473;21988832;23000965;23128233;22505724 113 F5H4D1;F5H699;H3BMA5;H3BQ93;I3L2Y1;I3L3Q5;P51828 ABBA01000875;AC007597;AK093706;AMYH01007659;BC039891;BC098566;BC126271;BC144120;BM543987;BU631614;CH471092;D25538;DA047753;NM_001114 AAH39891;AAI26272;BAA05021;BAG52752;EAW82753;EAW82754;EAW82755;NP_001105;P51828 Hs.513578 1663926;1679101;1744507;1764339;1766379;2170456;2175281 D16S2967;G10670;GDB:511421;RH25275;SHGC-147943;SHGC-149723;SHGC-60768 AC7;FLJ36387;KIAA0037 ATP pyrophosphate-lyase 7;OTTHUMP00000164225;adenylate cyclase type 7;adenylate cyclase type VII;adenylyl cyclase 7 APPROVED protein-coding ENSG00000121281 238 02663 600385 REVIEWED 1343309 ADGB androglobin 6 6 6 q24.3 147660570 147877021 + 146961615 147178291 + 146920136 147136598 + 14702039;14574404;11329013;22115833;22019778;21628590 79747 E5RFN4;E5RG76;E5RGD1;E5RIM8;F8W7W4;H0Y333;H0Y334;H0Y335;H0YBE5;H0YC38;Q5TAU2;Q8N7X0;Q9H5S1 ABBA01025720;AK026774;AK097570;AL138916;AL158199;AL359547;AL832192;AMYH01016727;AMYH01016728;BG199812;CH471051;DN831198;NM_024694 BAB15549;BAC05106;EAW47827;NP_078970;Q8N7X0 Hs.720870 1644548;1749657;2137173;2148627 RH46623;SHGC-111339;WI-11840;WI-16660 C6orf103 OTTHUMP00000225365;androglobin;calpain-7-like protein APPROVED protein-coding ENSG00000118492 21212 614630 PROVISIONAL 736792 ADCYAP1R1 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I This gene encodes type I adenylate cyclase activating polypeptide receptor, which is a membrane-associated protein and shares significant homology with members of the glucagon/secretin receptor family. This receptor mediates diverse biological actions of adenylate cyclase activating polypeptide 1 and is positively coupled to adenylate cyclase. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2010] 7 7 p14 31058667 31112836 + 31092076 31151093 + 1580863;2315956;2315964;6480464 19647005;18563302 14702039;16805430;16939974;7902709;19269029;19086053;18353507;17470806;16888199;16823490;16572459;16401644;16372333;16226889;15670850;15518890;14742913;12948842;12732341;12690205;12573802;12477932;12409233;12409223;11959368;11930171;10764955;10698193;10583729;10562300;10235634;9543159;8954788;8933357;8770902;8703026;8663363;8253796;7851900;22609358;21621269;20026142;18240029;19926922;12036966;20395540;18577758;16344560;21350482;21185349;21912390;22539193;22581436;22961270;23147486;23328528 117 C9JVH3;E9PFU5;H0Y813;P41586 AACC02000087;AB065700;ABBA01056815;ABBA01056816;ABBA01056817;AC006466;AI815550;AK096545;AK124304;AK226138;AK290046;AMYH01017151;AMYH01017152;AY366498;AY462278;AY462279;AY495951;AY495952;BC117116;BC136267;BC143679;BX538156;CA432770;CH471073;DA809763;NG_029869;NM_001118;NM_001199635;NM_001199636;NM_001199637;U09216 AAA19323;AAI17117;AAI36268;AAI43680;AAQ72806;AAR26314;AAR26315;AAR87870;AAR87871;BAC05923;BAF82735;EAL24444;EAW93978;NP_001109;NP_001186564;NP_001186565;NP_001186566;P41586 Hs.377783 1774797;1854017;2111083;2117148;2137163;2158814;2170251;2170253 A001T12;ADCYAP1R1;BCD1665;D7S604E;G19621;RH66404;T03315;WI-11192 PAC1;PAC1R;PACAPR;PACAPRI OTTHUMP00000123435;OTTHUMP00000202503;OTTHUMP00000202504;OTTHUMP00000202505;PACAP receptor 1;PACAP type I receptor;PACAP-R-1;PACAP-R1;adenylate cyclase activating polypeptide 1 (pituitary) receptor type 1;adenylate cyclase activating polypeptide 1 receptor 1;pituitary adenylate cyclase activating polypeptide 1 receptor type I Hiphop;pituitary adenylate cyclase-activating polypeptide type I receptor APPROVED protein-coding ENSG00000078549 242 00045 102981 REVIEWED 732730 ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) This gene encodes a secreted proprotein that is further processed into multiple mature peptides. These peptides stimulate adenylate cyclase and increase cyclic adenosine monophosphate (cAMP) levels, resulting in the transcriptional activation of target genes. The products of this gene are key mediators of neuroendocrine stress responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013] 18 18 p11 894944 902173 + 904944 912173 + 1300256;1580863;2325295;2315956;2325258;2325308;2325255;2315964;2325309;2325314;2325306;2325298;6480464 11687615;16888218;19647005;19427307;15702783;14742740;18563302;15698618;9864055;15913892;16689670 2302217;16805430;1730060;10698193;16939974;19470168;19269029;19120039;19086053;18782879;18353507;18349695;17962362;17470806;17430174;17387318;17175032;16888207;16697281;16687279;16493055;16226889;16148159;15834139;15518890;15489334;15356166;15048918;15036651;12948842;12754213;12716746;12686458;12573802;12504599;12477932;12429744;12417650;12409225;12409223;12145407;11972030;11968092;11713978;11515750;11350957;10921074;10583729;10562300;9313778;8504103;8353512;8253796;8146174;1739432;1483839;1335692;20500521;20034524;17431645;19701709;19712974;19914336;19926922;20072116;20133634;20180986;20414143;20468064;7680413;20675276;20554694;20671407;21109983;21898124;21350482;11175907;21259400;22610912;1544422;16344560;19805477;21388403;8577931;9346858;21383633;9603988;22108610;22415357;22539193;22581436;22638857;22644900;22648511;23147486;23251661;23220033 116 P18509;Q53BH6 AB537500;ABBA01049825;AK294233;AK313050;AMYH01008774;AP000894;AY592943;AY592948;BC093837;BC101803;CH471113;DA145895;DC320719;DN991692;NM_001099733;NM_001117;S83513;X60435;Z64808 AAB21470;AAH93837;AAI01804;AAT92256;AAT92261;BAG35881;BAH11708;BAJ09301;CAA42962;EAX01706;NP_001093203;NP_001108;P18509 Hs.531719;Hs.727476 1649056;1740239;1742467;1852907;2170442;2218980 ADCYAP1__4255;D18S1079;D18S1231;D18S1372;GDB:197131;RH17915 MGC126852;PACAP OTTHUMP00000162201;adenylate cyclase activating polypeptide 1;pituitary adenylate cyclase-activating polypeptide;prepro-PACAP 2314813 INSUL28_H APPROVED protein-coding ENSG00000141433 241 02369 102980 REVIEWED 733925 ADD1 adducin 1 (alpha) Adducins are a family of cytoskeleton proteins encoded by three genes (alpha, beta, gamma). Adducin is a heterodimeric protein that consists of related subunits, which are produced from distinct genes but share a similar structure. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Alpha- and gamma-adducins are ubiquitously expressed. In contrast, beta-adducin is expressed at high levels in brain and hematopoietic tissues. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. Alternative splicing results in multiple variants encoding distinct isoforms; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 4 4 p16.3 2815382 2901587 + 2845584 2931803 + 1298717;1302895;631736;1331525;1624953;1580863;1559299;5147993;5147995;5147999;5147996;5147998;5148000;5148001;6480464;7174725;7240710 1840603;15474463;8543181;15118671;9149697;11775124;19731222;17082469;18679149;16100725;11226670;17051589;16420563;19838659 7642559;16289097;3693401;8626479;10823823;19274077;19263529;19247266;19243623;19238444;19242491;19199261;19166692;19148102;19145770;19145769;19131662;19103106;19057513;19047752;18977990;18800139;18787518;18667944;18660489;18657677;18591455;18524856;18513389;18475162;18458162;18413308;18398333;18393230;18003973;17984662;17921817;17825147;17765140;17472579;17452507;17301826;17267840;17215849;17189961;17083073;17081983;17003363;16970091;16724011;16702981;16615274;16612256;16531798;16497648;16450155;16392768;16314886;16266470;16080807;16043664;15910744;15834281;15824464;15822905;15815621;15773232;15716695;15608390;15554870;15493144;15378162;15326084;15302935;15187197;15110895;15097233;15059531;15055253;15039125;14733918;14643575;14553962;14530292;14508192;13679477;12885793;12697976;12427140;12394950;12195119;12195118;12172317;12623934;12477932;12107246;12082592;12052841;11926892;11918988;11918733;11882573;11847182;11728946;11711521;11528213;11518842;11447495;11283377;11116113;11110979;10950304;10585876;10516168;10391210;10209029;9679146;9674650;8946164;8810272;8663089;7959767;7774961;7490111;3600811;2976282;1345173;1284592;22163289;22307086;21228790;19443911;19479237;19559392;19567882;19574959;19620885;19729965;19779330;19779464;19960031;20145305;20160191;20237496;20473689;19913121;20536507;20565774;20577119;20628086;20667857;17074803;20838486;20877298;20927398;20929695;21339657;20810786;22476228;22678362;23284854;12107410;8889548;21364877;21194526;22272309;21900206;22117679;21139048;21906983;21736685;22197999;22677360;22198647;23000965;23383273 118 A2A3N8;D6RAH3;D6RF25;D6RJE2;E7ENY0;E7EV99;H0Y9H2;H0YFD8;H0YG19;Q86XM2;Q9UJB6 ABBA01029483;ABBA01029484;ABBA01029485;AK025413;AK295457;AK298523;AK309186;AL121750;AL390065;AMYH01013885;BC013393;BC042998;BI460192;BU729599;BX465861;CA391117;CH471131;CR936693;CR995783;CX783962;D44632;L07261;L29296;NG_012037;NM_001119;NM_014189;NM_014190;NM_176801;S70310;S70312;Z68280;Z74617 AAB05645;AAB30913;AAH13393;AAH42998;BAG58391;BAG60726;CAA98970;CAI95603;CAM28230;CAM28231;CAM28232;EAW82498;EAW82499;EAW82500;EAW82501;EAW82502;EAW82503;EAW82504;EAW82505;NP_001110;NP_054908;NP_054909;NP_789771;P35611 Hs.183706 1644926;1656651;1666748;1668411;1735372;1742469;2115182;2129196;2129469;2137112;2146523;2162629;2171251;5020414;5022578;5024756 D1S1423;D4S2503E;G16715;G21856;GDB:197234;IB433;L17688;RH80030;SGC38240;SHGC-31191;SHGC-50709;SHGC-59534;SHGC-59535;SHGC-59864;SHGC-67376;SHGC-67653 ADDA;MGC3339;MGC44427 OTTHUMP00000151163;OTTHUMP00000151164;OTTHUMP00000151165;OTTHUMP00000218664;OTTHUMP00000218665;adducin 1, alpha;alpha-adducin;erythrocyte adducin alpha subunit;erythrocyte adducin subunit alpha APPROVED protein-coding ENSG00000087274 243 00036 102680;145500 REVIEWED 736575 ADD2 adducin 2 (beta) Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010] 2 2 p13.3 70742770 70848837 - 70889216 70995375 - 1298717;1625293;1331525;1300257;1580863;6480464;7174725 1840603;16497648;15118671;10845937;19838659 7642559;3693401;8626479;18959617;18787518;18667944;18003638;17854487;17301826;16116087;16105548;15963851;15834281;15815621;15716695;15528469;15489334;15345747;15146197;14553963;14517477;12951058;12653680;12477932;12427140;11526103;10485892;9679146;9244430;8810272;8566798;8563174;7999065;7707875;7490111;16344560;20379614;8889549;19913121;20628086;18347014;21697133;21832049;21606488;21139048 119 C9J080;C9J299;C9JJK3;C9JTM0;Q05DK5;Q5U5P4 AB209227;AB593080;ABBA01075539;ABBA01075540;AC005234;AC007395;AF001597;AF486420;AF486421;AF486422;AF486423;AK291007;AK297250;AK309773;AMYH01010425;BC008709;BC010237;BC011416;BC027876;BC041666;BC051882;BC056881;BC065525;BX119247;CH471053;CN428088;DA501584;N53078;NG_029481;NM_001185054;NM_001185055;NM_001617;NM_017482;NM_017488;S81079;S81083;U43959 AAA86421;AAD12715;AAD14349;AAH08709;AAH10237;AAH41666;AAH51882;AAH56881;AAH65525;AAP71863;AAP71864;AAP71865;AAP71866;BAD92464;BAF83696;BAG59729;BAJ84020;EAW99798;EAW99799;EAW99800;EAW99801;EAW99802;EAW99803;EAW99804;EAW99805;EAW99806;EAW99807;EAW99808;NP_001171983;NP_001171984;NP_001608;NP_059516;NP_059522;P35612 Hs.188528 1644444;1649706;1755201;2122862;2157692;2173258;2178650;2181360 A004B15;IB387;RH12820;SHGC-142110;SHGC-30541;WI-11693;WI-13671;WI-4105 ADDB OTTHUMP00000160123;OTTHUMP00000160124;OTTHUMP00000203376;OTTHUMP00000203377;OTTHUMP00000203378;OTTHUMP00000203908;OTTHUMP00000203909;OTTHUMP00000203961;adducin 2, beta;beta adducin;beta-adducin;erythrocyte adducin subunit beta APPROVED protein-coding ENSG00000075340 244 00037 102681 REVIEWED 1344715 ADH5P1 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 1 1446828 129 254 1352662 ADH5P3 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 3 1 1 q43 213588689 213590076 + 240333443 240334830 + 2818582;2294756 100131810 ABBA01033230;AL359918;AMYH01001875;NG_008686 1754147;2126932 D1S2600;SHGC-132176 pseudo 22991 INFERRED 735411 ADD3 adducin 3 (gamma) Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008] 10 10 q25.2 111755716 111885313 + 111765726 111895323 + 1300354;1300258;1580863;2317717;6480464 12810632;10485892;15329129 8893809;18787518;18667944;18475162;17081983;15963851;15834281;15716695;15561718;15489334;12477932;11895774;10581174;8125298;2503523;20460270;21164023;16385451;20379614;19913121;20628086;20810786;21139048;21890473 120 Q5VU08;Q9UEY8 AB209810;ABBA01063035;ABBA01063036;ABBA01063037;AK130789;AK223270;AK291488;AL162613;AL590628;AL600737;AMYH01003059;AMYH01003060;BC021694;BC043143;BC057285;BC062559;BI544596;BX647403;BX647442;BX648016;CF457028;CH471066;D67031;EF553523;NM_001121;NM_016824;NM_019903;U37122;Y14372 AAB17126;AAH62559;BAA23783;BAD93047;BAD96990;BAF84177;CAB51805;CAB51806;CAI46048;EAW49571;EAW49572;EAW49573;EAW49574;NP_001112;NP_058432;NP_063968;Q9UEY8 Hs.501012 1337825;1651973;1661046;1669799;1671050;1687361;1700852;1716547;1716567;1753905;1848871;2110953;2115276;2129281;2133806;2139465;2170136;2171552;2180410;2218186;5037552;5116670;5491728;7183183 1186;A007G14;A008R19;ADD3;ADD3__4199;D10S1199;D10S2337;D10S408E;D10S543;D8S2279;HSC2MD022;RH104052;RH121559;RH121628;RH44681;RH47300;RH78354;RH79633;SHGC-108129;SHGC-33439;STS-AA018233;STS-N93746;sY3122 ADDL OTTHUMP00000020462;OTTHUMP00000020463;OTTHUMP00000020464;adducin 3, gamma;adducin-like protein 70;gamma-adducin APPROVED protein-coding ENSG00000148700 245 03339 601568 REVIEWED 1342585 ADH5P2 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 2 1 1 1 p31.1 78226348 78227746 + 79759353 79760482 + 79986754 79988152 + 2818582;23251661 343296 ABBA01074377;AL606527;AMYH01000729;NG_008685 pseudo 22976 INFERRED 1349763 ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the oxidation of alcohols to aldehydes. This gene is active in the liver in early fetal life but only weakly active in adult liver. This gene is found in a cluster with six additional alcohol dehydrogenase genes, including those encoding the beta and gamma subunits, on the long arm of chromosome 4. Mutations in this gene may contribute to variation in certain personality traits and substance dependence. [provided by RefSeq, Nov 2010] 4 4 q23 100416547 100431165 - 100197523 100212185 - 1580863;6480464;6907045 9982;16153155;2347582;19343046;19193628;19124506;18828806;18510611;18331377;17632320;17185388;16685648;15489334;15279067;14634838;12477932;12392591;12081471;11356310;11303599;10424757;3013304;3006456;2935875;2920825;2737681;2169444;1620113;12050823;16712791;11329013;19526455;19618839;19687126;19874574;19913121;20628086;20634891;20872569;21988832;23456092 124 P07327 ABBA01063673;AC097530;AK290558;AK309597;AMYH01014420;AY948115;BC074738;BC117442;BC126306;BG199182;BT019812;CB116632;CH471057;M12271;M12963;M32656;M37066;NM_000667 AAA51590;AAA51591;AAA52276;AAA68131;AAH74738;AAI17443;AAI26307;AAV38615;AAX20115;BAF83247;EAX06093;EAX06094;NP_000658;P07327 Hs.654433 1683154;2141220;2142432;5119905 D4S570;GDB:187387;L00769;SHGC-51373 ADH1 ADH, alpha subunit;OTTHUMP00000161653;alcohol dehydrogenase 1 (class I), alpha polypeptide;alcohol dehydrogenase 1A;alcohol dehydrogenase subunit alpha;aldehyde reductase APPROVED protein-coding ENSG00000187758 249 00063 103700 REVIEWED 1348288 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. [provided by RefSeq, Jul 2008] 4 4 q23 100446552 100461581 - 100227527 100242572 - 1580863;6480464;6907045;7240710 22231434;9982;2398055;19618839;19527514;19486361;19469618;19449376;19420105;19403456;19365573;19343046;19339270;19298323;19262484;19250143;19193628;19185835;19164089;19124506;19124091;19094228;19068087;19019335;18996923;18936436;18818748;18784359;18782342;18773092;18763293;18761854;18715275;18516948;18510611;18500343;18439068;18382665;18336671;18336668;18331377;18322963;18299763;18266839;18254707;18216179;18078815;18056758;18049455;18033686;17963305;17923853;17885622;17850643;17847010;17762315;17631643;17618743;17559546;17517051;17515815;17489985;17486761;17471563;17454860;17421009;17295732;17293864;17292341;17289126;17285601;17279314;17268812;17250612;17207821;17185388;17180580;17134660;17134659;17071628;17036331;16970620;16958672;16930209;16822169;16758956;16737450;16702384;16685648;16608143;16600530;16520888;16440362;16423594;16404797;16385179;16358724;16332725;16324524;16309369;16307179;16235983;16184481;16163053;16135443;16127737;16117582;16086315;16078602;16006997;15957670;15902904;15886702;15863807;15842823;15597094;15542751;15534263;15519646;15511718;15489334;15456134;15342556;15327835;15318112;15318096;15220553;15162847;15084894;14768474;14745297;14693654;14634838;12915519;12915514;12884000;12824748;12777946;12713190;12710951;12668919;12658118;12554615;12545748;12519453;12517056;12505800;12477932;12461493;12452180;12419833;12351924;12244546;12213289;12211622;12189549;12173598;12153842;12089173;12081471;12080432;11966948;11781511;11781503;11748356;11696658;11584144;11410735;11398342;11274460;11259352;11238183;11117576;11051375;10733556;10424757;8663387;8201622;6391920;6374651;3619918;3397059;3006456;3000832;2986130;2935875;2935533;2737681;2679216;2547609;2347582;2295648;2210383;2169444;1896463;22960999;21133627;22560290;19452585;19550411;19655364;19667493;19687126;19698717;19706845;19751749;19769429;19799139;19812523;19826048;19860798;19861527;19874574;19887496;19898482;19948975;20010786;20025435;20031627;20077761;20101753;20171022;20180859;20205700;20219057;20336794;20357489;20401433;20403997;20437850;20477764;20477767;20494945;19913121;20568895;20598484;20628086;20634891;20685249;20806441;20833657;20140262;20700531;21048924;21437268;21378355;21166830;21157980;22931071;20462248;21576033;21168396;21601984;21351086;21497796;22048268;21968928;21284671;21303386;22930414;21355870;21917409;22325912;21895720;22004471;21517275;22363810;22150722;22287615;22292652;21635275;21988832;23149980;23285246;23456092;22703580 125 A8MYN5;D6RHZ6;P00325 ABBA01063673;AC097530;AF040967;AF153821;AI702614;AK299409;AK301018;AK303945;AK304396;AK316501;AMYH01014420;BC033009;BP317995;BX641105;BX647469;CH471057;D00137;DQ017646;L38290;M21692;M24308;M24316;M24317;M32657;NG_011435;NM_000668;X03350;X15447 AAA51592;AAA51884;AAA52277;AAB48003;AAB59496;AAB96912;AAD37446;AAH33009;AAY22180;BAA00084;BAG61391;BAG62635;BAG64873;BAG65231;BAH14872;CAA27056;CAA33487;EAX06095;EAX06096;EAX06097;EAX06098;NP_000659;P00325 Hs.4 1657121;1658676;1715693;1722425;1740883;2113518;2126357;2130783;2187217;5015861;5037552;5119905;5125319;7185938 ADH1B_V67;D10S16;D4S2817;D8S2279;G60286;GDB:170161;GDB:187387;RH119293;SHGC-35417;SHGC-50678;SHGC-59546;SHGC4-136;STS-X15447 ADH2;DKFZp686C06125 ADH, beta subunit;OTTHUMP00000220192;alcohol dehydrogenase 1B;alcohol dehydrogenase 2 (class I), beta polypeptide;alcohol dehydrogenase subunit beta;aldehyde reductase APPROVED protein-coding 250 00065 103720;103780 REVIEWED 1342497 ADH5P4 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 4 6 6 6 q12 64710545 64713036 - 66602091 66618187 - 66545470 66547961 - 16201836;2818582;20800603;22318606 642443 Q2VIM7 ABBA01023930;AL391500;AMYH01016397;DQ120656;NG_008303 ABB92441 1341737 D6S1551 ADH5B;RCADH5;bA707M13.2 pseudo 21377 INFERRED 1344246 ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. [provided by RefSeq, Jul 2008] 4 4 q23 100476672 100492940 - 100257649 100273917 - 1559302;1580863;2325313;6480464;6907045;7240710 14726542;19068087 2935875;6391921;19343046;19339270;19193628;19189524;19124506;19120062;19038239;19019335;18996923;18936436;18846501;18818748;18773092;18761854;18676680;18510611;18331377;18268116;18266839;18254707;18043297;17923853;17885622;17665311;17631643;17629074;17563066;17559142;17543846;17517051;17454860;17449906;17421009;17379229;17295732;17285601;17268812;17185388;17134660;17071628;17018785;16930209;16801984;16758956;16737450;16685648;16675441;16600530;16440362;16415175;16344274;16287084;16239350;16184481;16132793;16117582;16086315;16051248;16039674;16018848;15941567;15910847;15902904;15897724;15863807;15842377;15767341;15734975;15643610;15642852;15519646;15511718;15489334;15375565;15370874;15327835;15318112;15220553;15138216;14745297;14732773;14693654;14691069;14634838;14608084;12915519;12884000;12782305;12750236;12713190;12710951;12668919;12658118;12631283;12554615;12517056;12505800;12500098;12477932;12376487;12173598;11966948;11802217;11752857;11748356;11740346;11700261;11696658;11303599;11274460;11207350;11159741;11051375;11045794;10424757;10405330;8201622;7771649;3758060;3397059;3006456;2737681;2347582;2169444;1896463;1524834;9982;15654505;16712791;19170196;19447389;19486361;19527514;19550411;19581569;19618839;19625176;19692168;19812523;19861527;19874574;19887496;19898482;19948975;20031627;20101753;20171022;20180013;20205700;20350778;20357489;20401433;20437058;20437850;20448861;20453000;20477767;20494945;6391957;19913121;20568895;20615890;20628086;20634891;20810466;20700531;22931071;21437268;21163612;21482329;21705789;22048268;22930414;21303386;23321361;21917409;22325912;22476623;22675424;22363810;22004471;20301387;20301402;22279680;22353233;22414625;23456092 126 P00326;Q71V49 ABBA01063673;AC097530;AF031832;AMYH01014420;BC062476;BC066227;BC066228;BC067419;BC067420;BC067421;BC067422;BC074771;BC074786;CB114902;CH471057;D11067;DQ088981;M12272;M32658;NG_011718;NM_000669;X04299;X04350 AAA52278;AAC05739;AAC41757;AAH62476;AAH66227;AAH66228;AAH67419;AAH67420;AAH67421;AAH67422;AAH74771;AAH74786;AAY68222;BAC06856;CAA27842;CAA27876;EAX06099;EAX06100;NP_000660;P00326 Hs.654537 1657121;1740881;1740883;2165776;5112009;5119905;5125319 D4S460;G44346;GDB:170160;GDB:170161;GDB:187387;SHGC-35417;SHGC-59546 ADH3 ADH, gamma subunit;OTTHUMP00000220209;alcohol dehydrogenase 1C;alcohol dehydrogenase 3 (class I), gamma polypeptide;alcohol dehydrogenase subunit gamma;aldehyde reductase APPROVED protein-coding ENSG00000248144 251 00066 103730;103780;168600 REVIEWED 735489 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [provided by RefSeq, Jul 2008] 4 4 q22 100263855 100284472 - 100044832 100065449 - 1300048;1580863;6480464;6907045 10407146;15369820;3466164;16787387;19343046;19193628;19182438;18996923;18801187;18331377;17069770;16237392;16220108;15863808;15489334;14745297;12631290;12477932;11997393;11964133;11916005;11900616;11752456;11279029;11009184;9570155;8032153;3036213;1889753;1362387;21480392;19687126;19861527;19874574;19898482;19925625;20363298;20453000;18029348;20800603;20626721;20634891;17207965;20462248;21184752;21832049;22044940;22232963;21635275;22147505;21988832;22960999;23456092 127 D6R9K8;D6RF43;D6RIB1;H0Y9N0;P08319 ABBA01063672;AC019131;AK290835;AK295556;AK313649;AMYH01014420;AP002026;AV659364;AY974245;BC022319;CH471057;M15943;NM_000670;X56411;X56419 AAA51595;AAH22319;AAX59034;ADQ32176;BAF83524;BAG58459;CAA39813;EAX06088;EAX06089;NP_000661;P08319 Hs.1219 1771315;2149576 SHGC-35298;STS-X56411 ADH-2 OTTHUMP00000219911;OTTHUMP00000219912;OTTHUMP00000220033;alcohol dehydrogenase 4;alcohol dehydrogenase class II pi chain;aldehyde reductase APPROVED protein-coding ENSG00000198099 252 00068 103740 REVIEWED 1314863 ADH6 alcohol dehydrogenase 6 (class V) This gene encodes class V alcohol dehydrogenase, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This gene is expressed in the stomach as well as in the liver, and it contains a glucocorticoid response element upstream of its 5' UTR, which is a steroid hormone receptor binding site. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 q23 100342818 100359426 - 100123795 100140403 - 1580863;6480464;6907045 1755855;1593644;19343046;17185388;16685648;14702039;12477932;12050823;11095947;10975466;7695785;2198032;1881901;19698717;19874574;20819778;23534349;21988832;23456092 130 B7ZAL1;D6RDN5;D6RH17;E9PBI1;H0Y8U2;P28332;Q8IUN7 ABBA01063672;ABBA01063673;AJ278908;AK092768;AK298290;AK316326;AMYH01014420;AP002026;AY962311;BC039065;CH471057;M84402;M84409;NM_000672;NM_001102470 AAA35509;AAH39065;AAX44051;BAG52607;BAG60550;BAH14697;CAC10399;EAX06090;EAX06091;NP_000663;NP_001095940;P28332 Hs.586161 1671970;1773450 G33392;SHGC-12728 ADH-5 OTTHUMP00000161647;OTTHUMP00000161648;OTTHUMP00000161649;OTTHUMP00000220107;alcohol dehydrogenase 6;aldehyde reductase APPROVED protein-coding ENSG00000172955 255 00067 103735 REVIEWED 1318880 ADHFE1 alcohol dehydrogenase, iron containing, 1 The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008] 8 8 8 q13.1 63336419 63372728 + 67507272 67543598 + 67344718 67381044 + 1580863;6480464 16712791;16435184;19013439;16616524;15221005;14702039;12592711;12477932;20877624 137872 B4DFI7;B4DV11;E5RFL4;F2Z2N0;F2Z3D8;F2Z3E5;Q8IWW8 AB075879;ABBA01041871;AC009879;AK056992;AK293530;AK294114;AK300243;AK300881;AMYH01018773;AY033237;BC047492;BC064634;BC110290;BE241883;BG698892;BQ182872;CB157325;CH471068;NM_144650 AAH64634;AAK44223;BAB71335;BAD38661;BAG57012;BAG57448;BAG62010;BAG62523;EAW86901;EAW86902;EAW86903;EAW86904;EAW86905;EAW86906;EAW86907;NP_653251;Q8IWW8 Hs.720023 2140168;2161837;2185235;2216994 ADHFE1_3092;G27361;RH65944;SHGC-34586 ADH8;FLJ32430;HMFT2263;HOT;MGC48605 Fe-containing alcohol dehydrogenase 1;OTTHUMP00000196631;OTTHUMP00000196632;OTTHUMP00000211260;alcohol dehydrogenase 8;alcohol dehydrogenase iron-containing protein 1;hydroxyacid-oxoacid transhydrogenase, mitochondrial APPROVED protein-coding ENSG00000147576 16354 12428 611083 VALIDATED 737541 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 q23-q24 100552441 100575548 - 100333418 100356667 - 1580863;6480464;6907045 7876099;9600267;9228021;11997393;19343046;19193628;18500343;18331377;18231859;17921519;17918242;17486761;17185388;16685648;16180008;15456134;14502680;8824810;8195208;8125298;8082805;8074657;7925371;7876191;7771649;1592118;23568457;21145461;10631979;12477932;15028279;16344560;19609347;19687126;19861527;19874574;19898482;20158305;20336794;8889548;20700531;20800603;10969996;11410738;21437268;23314748;18029348;23149980;23456092 131 C9JP14;E9PFG0;P40394 ABBA01063673;AK223472;AK301657;AK301696;AK310811;AK312854;AMYH01014420;AP001960;BC131512;BX476080;CA311897;CD014081;CD697521;CH471057;DB204496;DB350054;L33179;L47166;NM_000673;NM_001166504;S77168;U07821;U09623;U16286;U16293;X76342 AAA19002;AAA59211;AAA82165;AAB34478;AAB38424;AAC51351;AAI31513;BAG35707;BAG63133;BAG63168;CAA53960;CAA53961;EAX06101;NP_000664;NP_001159976;P40394 Hs.389 1690484;1765939;1777608;1858674 SHGC-12015;SHGC-149343;SHGC-67814;STS1AA ADH-4;ADH4 OTTHUMP00000214819;OTTHUMP00000214820;OTTHUMP00000214821;alcohol dehydrogenase VII;alcohol dehydrogenase class 4 mu/sigma chain;alcohol dehydrogenase class IV mu/sigma chain;alcohol dehydrogenase-7;class IV sigma-1 alcohol dehydrogenase;class IV sigmasigma alcohol dehydrogenase;gastric alcohol dehydrogenase;retinol dehydrogenase APPROVED protein-coding ENSG00000196344 256 02515 600086 REVIEWED 1351578 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008] 4 4 q23 100211152 100228954 - 99992129 100009931 - 1580863;5128886;5128891;5128882;5128890;5129088;5129091;5128892;6480464;6907045 20431245;19395503;17543375;19514054;19806079;8462548;15919956 8460164;6375718;19165527;18996923;18636124;18331377;18095160;17185388;16685648;15489334;14608084;12484756;12477932;12196016;12141816;12004059;10978156;10661511;9018047;8503936;8494891;7948423;6424546;3365377;2936344;2934732;2818582;2679557;1453005;1446828;16169070;19596685;19874574;19898482;20158305;20335826;20371487;20308539;20634891;20677014;20819778;21832049;21920416;21139048;21890473;21906983;23285246;23752268;22335564;15123239;21963094;21988832;23000965;23251661;23355119;22505724;23456092 128 D6R9G2;D6RAY0;D6RD54;D6RFE4;H0YAG8;P11766;Q6IRT1 ABBA01063669;AC019131;AK129570;AK226177;AK312367;AMYH01014419;AY987960;BC014665;BC070491;BQ881561;BT019832;BT019833;CH471057;CR536491;CR541689;M29872;M30471;M81112;M81118;NM_000671 AAA51596;AAA51597;AAA79018;AAH14665;AAH70491;AAV38635;AAV38636;AAX81412;BAG35285;CAG38730;CAG46490;EAX06084;EAX06085;EAX06086;NP_000662;P11766 Hs.78989 1795322;1858368;2132047;2183555 ADH5_690;SHGC-67905;WI-14387;WI-18933 ADH-3;ADHX;FALDH;FDH;GSH-FDH;GSNOR FALDH;GSH-FDH;OTTHUMP00000219913;S-(hydroxymethyl)glutathione dehydrogenase;alcohol dehydrogenase (class III), chi polypeptide;alcohol dehydrogenase class chi chain;alcohol dehydrogenase class-3;alcohol dehydrogenase class-III;formaldehyde dehydrogenase;glutathione-dependent formaldehyde dehydrogenase APPROVED protein-coding ENSG00000197894 253 00064 103710 REVIEWED 1606699 ADIG adipogenin ADIG/SMAF1 is an adipocyte-specific protein that plays a role in adipocyte differentiation (Kim et al., 2005 [PubMed 15567149]; Hong et al., 2005 [PubMed 16132694]).[supplied by OMIM, Mar 2008] 20 20 20 q11.23 33920630 33927890 + 36643252 36650518 + 37209838 37217104 + 6480464 15567149;16132694;12477932 149685 A2A2E7;F5GXV4;H0Y829;Q0VDE8 AA974242;ABBA01052526;AL035419;AMYH01011906;BC029594;BC119704;BC119705;BX105371;CH471077;HC044655;NM_001018082 AAH29594;AAI19705;AAI19706;ABM82428;ABM85620;CBH30657;EAW76017;NP_001018092;Q0VDE8 Hs.368028 2169420 AL030966 KIAA1219;MGC149650;MGC39724;RP5-1100H13.2;SMAF1 OTTHUMP00000030970;adipogenesis associated;adipogenin;small adipocyte factor 1 (SMAF1) APPROVED protein-coding ENSG00000182035 28606 18068 611396 VALIDATED 7205113 ADIPOR1P1 adiponectin receptor 1 pseudogene 1 10 p12.31 22453505 22454353 + 645220 ABBA01034483;AL157831;AMYH01002179;NG_022165 pseudo 44910 INFERRED 7205280 ADIPOR1P2 adiponectin receptor 1 pseudogene 2 14 q32.13 95100009 95100862 + 390503 ABBA01030412;AL049839;AMYH01005970;NG_022863 pseudo 44911 INFERRED 7241120 ADIRF-AS1 ADIRF antisense RNA 1 100133190 ABBA01033689;AC025268;AK128041;AL136982;AL157440;AMYH01002903;BC017676;XR_110430;XR_111094;XR_171863 Hs.714477;Hs.739872 1681195;1731939;1778252;2184780;5015961 D10S608;D15S1477;RH44865;RH68273;RH93785 miscrna 45127 MODEL 6481304 ADIPOQ-AS1 ADIPOQ antisense RNA 1 3 186569675 186573912 - 12477932;19165155;20018283 100874095 ABBA01058379;AC072018;AMYH01013737;BC036509;NR_046662 Hs.638968;Hs.80485 1770624;5015861;5037552;7185938 D10S16;D8S2279;G29832 APPROVED miscrna ENSG00000226482 40648 PREDICTED 1348184 ADIRF adipogenesis regulatory factor APM2 gene is exclusively expressed in adipose tissue. Its function is currently unknown. [provided by RefSeq, Jul 2008] 10 10 10 q23.2 82731188 82733667 + 88718168 88720646 + 88728188 88730666 + 737633;6480464 12477932 15489334;19444912;19204726;8619847;16341674;15851553;23239344;21900206;21906983;23467766 10974 Q15847;Q5TBU2;Q5TBU5 ABBA01033689;AI401530;AK312031;AL136982;AMYH01002903;BC004471;BM789611;BM850559;CD722742;CH471142;D45370;NM_006829 AAH04471;BAA08226;BAG34968;EAW80313;NP_006820;Q15847 Hs.642660;Hs.714477 1681195;1731939;1778252;2184780 D10S608;RH44865;RH68273;RH93785 AFRO;APM2;C10orf116;RP11-96C23.4;apM-2 OTTHUMP00000020019;adipogenesis factor rich in obesity;adipose most abundant gene transcript 2 protein;adipose specific 2 APPROVED protein-coding 24043 16575 VALIDATED 1351472 ADIPOQ adiponectin, C1Q and collagen domain containing This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010] 3 3 q27 188043157 188058946 + 186560463 186576252 + 1599133;1599139;1599144;1599145;1599146;1599149;1599150;1642458;1642395;2313239;2313230;2313236;2313234;2313238;2313235;5686359;5686385;5686388;5686726;5686807;5686812;5686800;5686674;5686351;5686380;5686719;5686822;5686857;5686818;5686660;5686837;5686406;5686819;5686853;5686880;5686887;5685385;5686407;5686408;5686428;5686889;5686895;5686827;5686409;5686754;5686813;5686750;5686885;5686894;5686355;5686424;5686752;5686881;5686891;5686893;5686716;5686833;5686751;5686830;5686856;5686820;5686806;5686814;5686835;5686838;5686381;5686851;5685373;5686377;5686379;5686405;5686802;5686804;5686821;5686825;5686809;5686810;5686883;5686898;5686841;6480464;6907045 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9370 A8K660;B2R773;Q15848 AB012165;ABBA01058379;ABBA01058380;AC072018;AC112907;AJ131459;AJ131460;AJ131461;AJ131462;AJ131463;AK291525;AK312868;AL832470;AMYH01013737;AX767959;BC054496;BC096308;BC096309;BC096310;BC096311;CH471052;D45371;EU420013;GM710009;HC474937;NG_021140;NM_001177800;NM_004797 AAH54496;AAH96308;AAH96309;AAH96310;AAH96311;ABZ10942;BAA08227;BAA86716;BAF84214;BAG35720;CAB52413;CAE01099;CAT82843;CBL63519;EAW78165;NP_001171271;NP_004788;Q15848 Hs.80485 1770624;2149043;5016478;5016596;5020881;5020946;5037552 D8S2279;G29832;GDB:313513;GDB:434012;GDB:631802;L17709;L17971 ACDC;ACRP30;ADIPQTL1;ADPN;APM-1;APM1;GBP28;adiponectin 30 kDa adipocyte complement-related protein;OTTHUMP00000210047;OTTHUMP00000210048;adipocyte complement-related 30 kDa protein;adiponectin;adipose most abundant gene transcript 1 protein;adipose specific collagen-like factor;gelatin-binding protein 28 1643508;2289633 BW262_H;BW506_H APPROVED protein-coding ENSG00000181092 13633 05671 605441;612556 REVIEWED 1602478 ADI1 acireductone dioxygenase 1 This gene encodes an enzyme that belongs to the aci-reductone dioxygenase family of metal-binding enzymes, which are involved in methionine salvage. This enzyme may regulate mRNA processing in the nucleus, and may carry out different functions depending on its localization. Related pseudogenes have been defined on chromosomes 8 and 20. [provided by RefSeq, May 2010] 2 2 2 p25.3 3555166 3576801 - 3480698 3502306 - 3501690 3523350 - 6480464;6907045 15938715;14718544;11602742;17786183;17212658;15815621;15489334;15221005;14702039;12477932;8125298;17353931;16344560;19626614;20379614;17207965;16712791;21832049;18029348;21139048;21963094;22505724 55256 H7C382;Q96P85 AB073609;AB158319;ABBA01013723;AC114810;AC142528;AC231981;AF087863;AF403478;AK001775;AK127473;AK222467;AK225278;AMYH01010069;BC001467;CB129674;CH471053;DA559726;FB342953;FB711076;NM_018269 AAH01467;AAL25800;AAP97173;AAX82038;AAY24022;ADQ33221;BAA91901;BAC86996;BAD10866;BAD38646;BAD96187;CAR81477;CAS91493;EAX01064;EAX01065;NP_060739;Q9BV57 Hs.502773 1694566;2118297;5022651;5037552 D11S2921;D8S2279;G43260;RH12407 APL1;ARD;FLJ10913;Fe-ARD;HMFT1638;MTCBP-1;MTCBP1;Ni-ARD;SIPL;mtnD 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase;MT1-MMP cytoplasmic tail-binding protein-1;OTTHUMP00000140252;OTTHUMP00000216451;acireductone dioxygenase (Fe(2+)-requiring);acireductone dioxygenase (Ni(2+)-requiring);membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1;submergence induced protein 2;submergence-induced protein-like factor APPROVED protein-coding ENSG00000182551 30576 17607 613400 REVIEWED 737582 ADK adenosine kinase This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 10 10 q22 75580971 76139066 + 75910943 76469061 + 1300259;1580863;1300048;2313341;2313360;6480464;6482670;6482662;6482663;6482668;6482666;6482652;6482655;6482302;6482667;6482664;6482646;6482650;6482657;6907045 11997462;16827901;12729803;8207212;11423084;11160636;9435554;9932716;21427729;17457365;21635241;9731623;11123368;22521820;21964979;16685255 9070863;18309031;15489334;12820662;12477932;12112843;11242543;10215863;9843365;8917457;8577746;185014;16385451;18600536;18600545;19635462;20392501;16712791;20698827;19913121;16344560;20881134;20379614;21139048;21906983;22092111;21931568;21988832 132 P55263;Q5JQ10 ABBA01020278;ABBA01020279;ABBA01020280;ABBA01020281;ABBA01020282;ABBA01020283;ABBA01020284;ABBA01020285;ABBA01020286;ABBA01020287;ABBA01020288;ABBA01020289;ABBA01020290;ABBA01020291;ABBA01020292;ABBA01020293;ABBA01020294;ABBA01020295;AC012046;AC022026;AC022540;AC091699;AF283990;AI188809;AI608983;AK290633;AK301590;AK302706;AL357037;AL731576;AMYH01002834;AMYH01002835;BC003568;BJ989861;BM472149;BT006788;CB133126;CH471083;DA356691;NG_030484;NM_001123;NM_001202449;NM_001202450;NM_006721;U33936;U50196;U90338;U90339 AAA97893;AAB01689;AAB50234;AAB50235;AAG13958;AAH03568;AAP35434;ABM92241;ABW03284;BAF83322;BAH13519;BAH13786;EAW54555;EAW54556;NP_001114;NP_001189378;NP_001189379;NP_006712;P55263 Hs.656586 1341235;1649914;1650704;1661302;1671654;1674184;1763887;1767403;1773045;1781942;1854003;2115287;2141761;2156830;2163449;2169167;2174225;2174227;5093826;7186760 A001U01;A009X23;D10S2150;D10S2218;D10S535;G19645;G32946;IB2229;RH1569;RH46197;RH66362;RH70656;SHGC-132142;SHGC-147556;SHGC-32599;SHGC-34979;STS-AA010164;STS-U50196;WI-11741 AK OTTHUMP00000019864;OTTHUMP00000019865;adenosine 5'-phosphotransferase;adenosine kinase APPROVED protein-coding ENSG00000156110 257 00039 102750;614300 REVIEWED 1348112 ADM2 adrenomedullin 2 This gene encodes a protein which is a member of the calcitonin-related hormones. The encoded protein is involved in maintaining homeostasis in many tissues, acting via CRLR/RAMP receptor (calcitonin receptor-like receptor/receptor activity-modifying protein) complexes. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] 22 22 q13.33 49266878 49271732 + 50919985 50924866 + 1303968;6480464 14706825 19255504;18829738;18460550;17965749;17346853;17008878;16359754;15461802;14702039;14615790;14615490;12477932;10591208;18577758;18240029;19535789;19592612;19684198;19910445;12036966;20596793;21658025;21671901;21816853;21832999;21839130;8125298;21816966;22922959;22009752;23337723 79924 Q6IC89;Q7Z4H4 AB121034;AB236970;ABBA01042630;AF529213;AK024788;AK090635;AK092640;AK225097;AL096767;AMYH01012911;BC012864;BM910446;BX400262;CH471138;CR456479;NM_001253845;NM_024866 AAI41535;AAI46570;AAQ09100;BAB15004;BAD07411;BAE46395;CAG30365;CAK54460;CAK54759;EAW73541;NP_001240774;NP_079142;Q7Z4H4 Hs.449099;Hs.743540 5015861;5020948;5091792;7185938 D10S16;G35510;RH48341 AM2;FLJ21135;dJ579N16.4 OTTHUMP00000196595;OTTHUMP00000196596;intermedin APPROVED protein-coding ENSG00000128165 28898 10563 608682 VALIDATED 1344545 ADIPOR1 adiponectin receptor 1 This gene encodes a protein which acts as a receptor for adiponectin, a hormone secreted by adipocytes which regulates fatty acid catabolism and glucose levels. Binding of adiponectin to the encoded protein results in activation of an AMP-activated kinase signaling pathway which affects levels of fatty acid oxidation and insulin sensitivity. A pseudogene of this gene is located on chromosome 14. [provided by RefSeq, Jan 2012] 1 1 q32.1 201176576 201194034 - 202909960 202927700 - 1331376;1625761;1625762;1625763;1625764;1625765;1580863;1642395;6480464 12802337;17391161;17285539;16483885;16415076;16326833;16823476 18988888;22082804;19453261;19233263;19208777;19144434;19120283;19109202;19037660;19010305;18996753;18996102;22842631;22387454;23255609;18982021;18854016;18842004;18827209;18719649;18713296;18660489;18622492;18548168;18466348;18451143;18313838;18310295;18294218;18163210;18097620;17911635;17878241;17716299;17712104;17697862;17459059;17426101;17416799;17216283;17209173;17123704;17118803;17054465;17006986;17003341;17001470;16955209;16899222;16793963;16724230;16700915;16678125;16622416;16609881;16601138;16505255;16443913;16205883;16139921;16044242;16043761;16023994;15983228;15918014;15757860;15489334;15454091;15331527;15277397;15105989;14702039;14651988;12477932;10810093;8125298;21284833;21351255;21321996;20125105;20875820;17207965;20712903;20938443;20952631;20470935;20696134;19913121;20628086;20682687;20697428;18599322;18923878;19051043;19196212;19524379;19536175;19549705;19631916;19671624;19672024;19723917;19727342;19887569;19909601;19948975;20032495;20059631;20071013;20074551;20120899;20129487;20332107;20432444;20336470;21195057;19487733;21289205;21331343;23358237;23762377;22495003;21761356;21397927;21538348;21749709;21632074;21900123;22227293;22340319;21890473;22050309;19322201;21750988;22049178;21150319;21963094;21988832;23351195;23358721;23386639;22106445;22265003;22087284;21273992;22078265;21980131;22186245;21960694;22633650;22534793;22767440 51094 C9J0W7;C9JNM5;F8W782;Q96A54 ABBA01027489;ABBA01027490;AC096632;AF125179;AF151803;AK001484;AK058114;AK124455;AK222503;AMYH01001652;AY424279;BC001594;BC010743;BX461217;CH471067;HC299099;HD061930;NM_015999;NR_046083 AAD34040;AAH01594;AAH10743;AAQ13552;AAR08367;ADQ32734;BAD96223;BAG50922;CBJ06650;CBS99526;EAW91449;EAW91450;NP_057083;Q96A54 Hs.713729 1850431;1850433;2129212;2135317;2149629 A006H25;G20811;RH16184;SHGC-34701;WI-18541 ACDCR1;CGI-45;CGI45;FLJ25385;FLJ42464;PAQR1;TESBP1A OTTHUMP00000038805;OTTHUMP00000038806;adiponectin receptor protein 1;progestin and adipoQ receptor family member I APPROVED protein-coding ENSG00000159346 24040 06402 607945 VALIDATED 1317349 ADIPOR2 adiponectin receptor 2 The adiponectin receptors, ADIPOR1 (MIM 607945) and ADIPOR2, serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM, Mar 2008] 12 12 p13.31 1670508 1768106 + 1800247 1897845 + 1331376;1625763;1625764;1625765;1642395;2312480;2312486;2312478;2312488;2312495;2312476;2312490;6480464 12802337;16483885;16415076;16326833;16823476;18548168;18363889;19220660;18222103;17884446;19631916;18075289 20470935;21943112;22082804;22819899;22187345;19453261;19208777;19120283;19037660;18996753;18996102;18988888;18931038;18923878;18842004;18719649;18713296;18660489;18466348;18310295;18294218;17716299;17697862;17459059;17426101;17416799;17216283;17209173;17123704;17118803;17054465;17006986;17001470;16955209;16899222;16724230;16700915;16678125;16609881;16601138;16505255;16205883;16139921;16044242;15983228;15918014;15757860;15489334;15454091;15331527;15105989;14702039;14651988;12477932;8889548;21632074;19913121;20602615;20628086;20682687;21284833;21351255;19051043;19502591;19549705;19662435;19671624;19723917;19887569;19909601;20032495;20120899;20178558;20308432;20379614;20423458;17207965;20712903;20875820;20336470;20125105;19487733;21331343;23255609;16622416;22265003;21538348;22379998;21963094;23358721;23386639;22227293;22479352;21273992;21980131;21960694;22633650;22534793 79602 Q86V24 ABBA01048817;ABBA01048818;ABBA01048819;AC005183;AC005343;AK025085;AK127196;AK128511;AMYH01004176;AY424280;BC004906;BC051858;BM973815;CH471116;HD061932;NM_024551 AAH51858;AAR08368;ADQ33094;BAB15062;BAC86881;BAC87473;CBS99527;EAW88924;NP_078827;Q86V24 Hs.371642 1341039;1665574;1665576;1693858;1707672;1709784;1709926;1709994;2156405;5492094 A006B15;Adipor2;D12S1656;G20673;G42618;RH66215;SHGC-82005;SHGC-82266;SHGC-84708;SHGC-84820 ACDCR2;FLJ21432;MGC4640;PAQR2 OTTHUMP00000160634;adiponectin receptor protein 2;progestin and adipoQ receptor family member II APPROVED protein-coding ENSG00000006831 24041 06403 607946 VALIDATED 3499499 ADM5 adrenomedullin 5 (putative) 19 19 19 q13.33 47061274 47063579 + 54883754 54886059 + 50191942 50194247 + 6480464 18434369;12477932 199800 C9JUS6 ABBA01032913;AC011495;AI937838;AL359598;AMYH01009917;BC022233;BC032764;BC112359;CH471177;NM_001101340 ACE86851;ACE87538;C9JUS6;EAW52522;NP_001094810 Hs.311193;Hs.607562 1676982;1685514;2118737;2119391;5493459 RH68301;RH91103;RH91411;STS-N90422;UniSTS:486532 AM5;C19orf76 adrenomedullin 5 homolog (pig);putative adrenomedullin-5-like protein APPROVED protein-coding 27293 VALIDATED 730917 ADM adrenomedullin Adrenomedullin, a hypotensive peptide found in human pheochromocytoma, consists of 52 amino acids, has 1 intramolecular disulfide bond, and shows a slight homology with the calcitonin gene-related peptide. It may function as a hormone in circulation control because it is found in blood in a considerable concentration. The precursor, called preproadrenomedullin, is 185 amino acids long. By RNA-blot analysis, human adrenomedullin mRNA was found to be highly expressed in several tissues. Genomic ADM DNA consists of 4 exons and 3 introns, with the 5-prime flanking region containing TATA, CAAT, and GC boxes. There are also multiple binding sites for activator protein-2 and a cAMP-regulated enhancer element. [provided by RefSeq, Jul 2008] 11 11 p15.4 10283218 10285499 + 10326642 10328923 + 1625294;1625307;1625319;1625297;1625316;704370;1625296;1625299;1625300;1625301;1625302;1625303;1625304;1625305;1625310;1625312;1625318;1625333;1625298;1625317;1580863;2313312;2313313;2313311;2325317;2325318;2325319;1642599;2325637;2325320;6480464;6484113 17355819;17335899;16713642;16793965;17043245;12623952;16955796;16524566;16450076;15789277;15350700;15284680;15086360;14718403;17318497;17255858;16715121;16728681;16625237;16735801;19216096;17557032;19424162;17363587;16841081;11331218;17766482;18945953;20431304 22178239;21350119;12753312;12720100;12716843;12687457;12684703;12667630;12660258;12646214;12643861;12630824;12630823;12630817;12601625;12579522;12566732;12565880;12534591;12529288;12484513;12477932;12383875;12376296;12375542;12324915;12220731;12193565;12189226;12137974;11972292;11956648;11921363;11921362;11905404;11879669;11774814;11744163;11712085;11571480;11562782;11511315;11502838;11463752;11463574;11387328;11150646;11116141;10956553;10899511;10867102;10855685;10588445;9916958;9768331;12782295;12763641;9620797;9578982;9535752;9357065;9145435;8885746;8774254;8742029;8687431;8387282;8137955;8076689;7745031;7688224;8074714;10822232;11410113;8524787;12379507;19346663;19323987;19306911;19253104;19247278;19210874;19166930;19126117;19010904;19009024;18929609;18708640;18705285;18692535;18657357;18615773;18463805;18403050;18401334;18371176;18081029;18080871;18000597;17952853;17941085;17922433;17766467;17719138;17584073;17388661;17384335;17327422;17307261;17290391;17053041;17022943;16963041;16854513;16821090;16815566;16797107;16622024;16609682;16596251;16517613;16416151;16356592;16322067;16256216;16221100;16154664;16115629;16097366;15976103;15974887;15917349;15908101;15902095;15866060;15788445;15761041;15758554;15711093;15702240;15684700;15677761;15665526;15544858;15531734;15527794;15489334;15361766;15336545;15300632;15242974;15194870;15192039;15044509;15016771;14759562;14725946;14720432;14715486;14714580;14671210;14612905;14534081;14517225;12969589;12920627;12907107;12903912;12853384;12835224;12805025;22818355;21050876;20016189;20216319;18240029;19212702;19564455;19610056;19616043;19623513;19627536;19636336;19706311;19823891;19847298;19932100;20151808;19738161;20954838;21075100;19913121;20628086;20713499;20467777;12036966;20534761;20798523;21094578;16270874;20691218;20942979;22971508;23356193;23002189;22608560;21408188;21558971;21695352;22087514;21798961;21558311;21957602;10882736;16964401;21721459;20854881;21994414;22070520;21458987;21839130;22628306;21830197;20686565;21909110;21909115;22102369;22400488;22406979;22880472;22456622;22881718;22885414;23269582;15613468;22960655;22932875;23450059;22859951;23381795;21791966;22801438;21889828;21725669 133 E9PL83;E9PML4;E9PQE6;E9PQT2;P35318 ABBA01061160;AC080023;AK312893;AMYH01003389;BC015961;BT006902;CH471064;CR541995;D14874;D43639;DQ143945;HI574294;NM_001124;S73906 AAC60642;AAH15961;AAP35548;AAZ38717;BAA03589;BAA07756;BAG35740;CAG46792;CBX47636;EAW68571;EAW68572;NP_001115;P35318 Hs.441047 1773331;2153877;5020958 ADM-1;RH17382;WI-9301 AM OTTHUMP00000231484;OTTHUMP00000231488;OTTHUMP00000231489;OTTHUMP00000231490;preproadrenomedullin APPROVED protein-coding 259 00061 103275 REVIEWED 1344356 ADORA2BP1 adenosine A2b receptor pseudogene 1 1 1 1 q32 183148612 183149913 + 207984087 207986065 + 209917720 209919021 + 7558011 137 ABBA01048215;AL022398;AMYH01001696;NG_000843 ADORA2BP APPROVED pseudo 265 INFERRED 737453 ADNP activity-dependent neuroprotector homeobox Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 20 20 20 q13.13 46211143 46251787 - 48940290 48980934 - 49506883 49547527 - 1580863;2312784;2312792;2312791;2312794;2312793;2312783;1358226;2312775;6480464 11123362;17720885;18199809;10037502;15886480;18414890;11935065;16938277 17474147;18029348;17878164;17345061;17081983;15489334;12477932;11780052;11013255;9872452;20598862;19923857;20562864;21647709;22939629;21888893;22586326;21900206;19471022;21139048;21890473;21252943;22554909 23394 E9PQK8;Q9H2P0 AB018327;ABBA01052790;AF250860;AK074926;AK314734;AL034553;AL080163;AMYH01011976;AMYH01011977;BC015554;BC075794;BC090933;CH471077;NM_015339;NM_181442 AAG47651;AAH75794;AAH90933;BAA34504;BAG37275;CAB45752;EAW75611;EAW75612;NP_056154;NP_852107;Q9H2P0 Hs.570355 1663998;1735976;1738987;1767687;1774387;1775806;2124184;2142306;2144855;2155591;2158896;2162067;2169094;2218190 ADNP__4259;D1S1984E;D20S560E;D20S689;D20S772;D20S953;RH11804;RH18366;RH68738;RH69297;SHGC-36586;SHGC-52475;SHGC-57240;Z94544 ADNP1;KIAA0784 ADNP homeobox 1;OTTHUMP00000031275;OTTHUMP00000031276;OTTHUMP00000165329;OTTHUMP00000229415;activity-dependent neuroprotective protein;activity-dependent neuroprotector homeobox protein APPROVED protein-coding ENSG00000101126 15766 09793 611386 REVIEWED 1605090 ADNP2 ADNP homeobox 2 18 18 18 q23 74639542 74670861 + 75967903 75999220 + 77866915 77898229 + 6480464 18029348;15489334;14702039;12477932;10048485;20598862;20936779;21888893;21139048;21906983;19322201 22850 H0YLN6;H0YM09;K7EPG1;K7ERT3;Q6IQ32 AB020670;ABBA01013903;ABBA01013904;AC090360;AC139100;AK022688;AK023032;AK292566;AMYH01009137;BC071589;CH471117;NM_014913 AAH71589;ABZ92222;BAA74886;BAB14180;BAF85255;EAW66646;EAW66647;NP_055728;Q6IQ32 Hs.131915 1739239;2125318 D17S1639;RH65773 KIAA0863;ZNF508 ADNP homeobox protein 2;zinc finger protein 508 protein-coding ENSG00000101544 23803 13822 VALIDATED 1317890 ADO 2-aminoethanethiol (cysteamine) dioxygenase Human thiol dioxygenases include cysteine dioxygenase (CDO; MIM 603943) and cysteamine (2-aminoethanethiol) dioxygenase (ADO; EC 1.13.11.19). CDO adds 2 oxygen atoms to free cysteine, whereas ADO adds 2 oxygen atoms to free cysteamine to form hypotaurine (Dominy et al., 2007 [PubMed 17581819]).[supplied by OMIM, Mar 2008] 10 10 10 q21.3 57831785 57835508 + 64234522 64238245 + 64564516 64568239 + 6480464;6907045 17581819;15489334;14702039;12477932;20877624;21890473;22327514;22412388;22747683;23042114 84890 B3KXN9;Q96SZ5 ABBA01019491;AK027453;AK127694;AL049319;AL133417;AMYH01002774;BC018660;BC028589;BC067740;CH471083;NM_032804 AAH18660;AAH28589;AAH67740;BAB55123;BAG54551;EAW54235;EAW54236;EAW54237;NP_116193;Q96SZ5 Hs.99821 1646369;2117028;2175548 RH1566;SGC32008;SHGC-32854 C10orf22;DKFZp564C046;FLJ14547 2-aminoethanethiol dioxygenase;OTTHUMP00000019674;cysteamine (2-aminoethanethiol) dioxygenase (ADO);cysteamine dioxygenase APPROVED protein-coding ENSG00000181915 23506 12566 611392 VALIDATED 3129815 ADORA2A-AS1 ADORA2A antisense RNA 1 22 22 22 q11.23 8624901 8690519 - 23149939 23221042 - 24825178 24890783 - 12477932;14702039;16344560;19726446 646023 P86434 ABBA01055137;ABBA01055138;AK091970;AMYH01012666;AP000355;BC045098;CH471095;DA917327;DB449907;NR_028483;NR_028484 EAW59659;P86434 Hs.632761 1335844;1657586;2106949;2114034;2140335;2140775;2152485;2158034 ADORA2A;ADORA2A_7742;D22S1263;D22S156;D22S621;G18161;G27964;WI-18996 C22orf45;FLJ34651 APPROVED miscrna ENSG00000178803 37122 VALIDATED 730817 ADORA1 adenosine A1 receptor The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q32.1 201363459 201403156 + 203096836 203136533 + 1625225;1625243;1331525;1625367;1580863;1625229;1625369;1625366;1300260;2313803;2313805;2313804;2313807;2313808;4890386;5129094;5129099;5129095;5129093;5129103;5129097;5129098;4890369;4145444;5129096;5129100;6480464 17211253;15220221;15118671;15257174;17067559;16507638;8998253;11504952;19552053;16256246;19276628;11703426;11593763;20065990;21388992;18307414;20729330;2167912;17959644;15630442;17853654;20400685;18289533;18787037 7818494;8360491;8450977;1530647;19207864;19193874;19047957;19019667;19019012;18996102;18680557;18500760;18373090;18281812;18052973;17901362;17728764;17542617;17088462;16709961;16344560;16118787;15489334;15485865;14997566;14702039;12974671;12920396;12826838;12825092;12812995;12773115;12764156;12477932;12475223;12150791;11934694;11390975;11369591;11278325;10890919;10521440;10502296;10487528;10455026;9247966;9166747;8889548;8300646;7601478;2825071;2541503;1662665;1551861;1339301;22370739;20105183;18240029;19536175;19558453;19574994;19794965;19820430;19822392;19883624;19919976;20085598;20392501;20468064;20354569;20599769;18577758;19913121;20602615;20609566;20628086;16481441;16713569;21542986;21603615;21701065;21590734;21506953;21730968;22449383;22215671;22462821;21988832;23193172;22356216;22787201;22867902 134 P30542 AB004662;ABBA01027484;ABBA01027485;AC105940;AK095060;AK127752;AK289928;AK295584;AK308733;AMYH01001654;AY136746;BC026340;BT019854;BU740906;CH471067;CR541749;DA343445;DB171678;GM047589;L22214;NM_000674;NM_001048230;S45235;S56143;X68485 AAA17544;AAB23388;AAB25533;AAH26340;AAN01272;AAV38657;ABM83304;ABM83305;ABM84210;ABM86518;ABM87615;BAA20433;BAF82617;BAG54566;BAH12115;CAA48503;CAG46549;CAV33768;EAW91465;NP_000665;NP_001041695;P30542 Hs.77867 1744371;1775157;2168598 D1S1699;GDB:452605;SHGC-76157 RDC7 OTTHUMP00000039090;OTTHUMP00000039091;adenosine receptor A1 APPROVED protein-coding ENSG00000163485 262 00042 102775 REVIEWED 6769553 ADPGK-AS1 ADPGK antisense RNA 1 15 q24.1 73075176 73090540 + 23263486 100287559 ABBA01038721;AC009712;AK127877;AMYH01006770;AMYH01006771;NR_040107 Hs.562587 APPROVED miscrna ENSG00000260898 44144 VALIDATED 730999 ADORA2A adenosine A2a receptor This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily, which is subdivided into classes and subtypes. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein, an adenosine receptor of A2A subtype, uses adenosine as the preferred endogenous agonist and preferentially interacts with the G(s) and G(olf) family of G proteins to increase intracellular cAMP levels. It plays an important role in many biological functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, pain regulation, and sleep. It has been implicated in pathophysiological conditions such as inflammatory diseases and neurodegenerative disorders. Alternative splicing results in multiple transcript variants. A read-through transcript composed of the upstream SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013] 22 22 q11.23 23153530 23168325 + 24823530 24838325 + 1331525;1625367;1580863;1300262;1300261;2313805;4890366;4890380;4890362;4890358;4890361;4890364;4890386;4890367;4890370;4890383;4890376;4890378;4890363;4890385;6480464;6484113 15118671;15257174;11780065;9262401;16256246;18310516;17293374;19766783;20798237;19909990;18703794;17937935;17617618;16484904;17601796;17559837;19487932;16339780 19386617;19287996;19262506;19159073;19156168;19086053;19019667;19019012;19013155;18996102;18772204;18759349;18629431;18541693;18539621;18524886;18508500;18442791;18434504;18305461;18246094;18218631;18215030;18197085;18057956;17872970;17616786;17599669;17591446;17558310;17512749;17474152;17329997;17257240;17132707;16969271;16917093;16824773;16818375;16361356;16344560;16280366;16184606;16118787;16027149;16022683;15987888;15774265;15734651;15719154;15704067;15539641;15489334;10899090;16805430;7818494;10051547;10945659;8360491;16939974;8794889;19591938;19565319;19525944;21593763;21658325;15461802;15461468;15351206;14715520;14702039;14666117;14525968;12933819;12856413;12837758;12825092;12804599;12784121;12634474;12477932;12429726;12406340;12237741;12080047;11934694;11717194;11532976;11515749;11140838;11125033;10974209;10951119;10391209;10326835;9369973;8670304;8522976;8135838;22012471;21950736;8088373;8020991;7775460;2541503;1835521;1662665;1426003;1331670;22740769;21606452;12189203;11571652;16339847;18240029;19303140;19508402;19538256;19541651;19632986;19776336;19794965;19801629;19883624;19902562;19948975;20021407;20029460;20085598;20089670;20197060;20334879;20392501;20396431;20468064;20512606;20520601;18331682;20413899;20666933;20045081;16481441;20691427;21088442;12036966;20354569;21258856;22333316;22798613;22240468;19913121;20371613;20628086;20799992;20842321;20926384;21040702;21256133;21480628;21501622;21393508;20386734;23071116;22146575;23005256;21646447;21550361;21486776;21542986;21590734;21885291;22367999;21633321;21638125;21062422;21062644;21840298;22079667;22170367;18486613;22403020;22130015;22213163;22217884;22585593;21281405;21966389;22249219;22336631;21739164;22033526;21335481;22462821;22940476;22923002;22963436;23478188;11734617;15146197;18832607;22238572;22705363;23093781;23168167;23171222;23332182;23377438;23429888;23483627;23489072;23500543;23514445;23535492;23535933;23583199;23593569;23663495;23678995;23193172;22356216;22844517;22754043;22119961;22792196 135 B3KVQ4;C9J0Z4;C9J3T2;C9JFS2;C9JQD8;P29274 ABBA01055137;AK123058;AK289871;AK301420;AK312946;AMYH01012666;AP000355;AY136747;BC013780;BG686029;BT006999;CA307692;CH471095;CN408252;CR456367;DA270141;DA687739;DA781734;DA942067;DA983859;EU036687;EU036688;EU036689;EU036690;EU036691;EU036692;EU036693;EU036694;HI574256;HY102778;HY249059;M97370;NM_000675;NM_001278497;NM_001278498;NM_001278499;NM_001278500;NR_103543;NR_103544;U40771 AAA58356;AAA83270;AAH13780;AAN01273;AAP35645;ABS89237;ABS89238;ABS89239;ABS89240;ABS89241;ABS89242;ABS89243;ABS89244;BAF82560;BAG35787;BAG53866;BAG62949;CAG30253;CAK54365;CAK54664;CBX47617;EAW59658;NP_000666;NP_001265426;NP_001265427;NP_001265428;NP_001265429;P29274 Hs.197029 2106949;2114034;2140335;2140775;2158034 ADORA2A;ADORA2A_7742;D22S1263;G27964;WI-18996 A2aR;ADORA2;RDC8;hA2aR OTTHUMP00000198454;OTTHUMP00000198455;adenosine A2 receptor;adenosine receptor A2a;adenosine receptor subtype A2a APPROVED protein-coding ENSG00000128271 263 00043 102776 REVIEWED 731019 ADORA2B adenosine A2b receptor This gene encodes an adenosine receptor that is a member of the G protein-coupled receptor superfamily. This integral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is involved in axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 p12 15788956 15819935 + 15848231 15879210 + 1580863;6480464 7558011;10101031;8022409;7836474;19086053;19019667;18703227;18367727;18351132;18215420;18056839;18004767;17565009;17428235;17301835;17077301;16778150;16707627;16631311;16103269;15769552;15637124;15550390;15489334;15187156;12939345;12600879;12477932;12080047;11906291;11579381;11125033;11048721;9914161;7790006;1551861;1325798;18240029;18996102;19794965;19841638;19883624;19948975;20008542;20011598;20029460;20237496;20388705;21480628;20619442;22610502;19913121;20628086;12036966;20926384;21030693;21620804;21242513;21988832;22848385;21109603;21622827;21590734;23483055;22504483;22217884;21506953;21730968;21966389;21335481;22767505;23286920;22963436;23584256;23045479;22679008;22867902;22119961 136 P29275;Q2L7J7 ABBA01035665;AC006251;AMYH01008146;AY136748;BC025722;CH471222;DQ351340;M97759;NM_000676;X68487 AAA51598;AAH25722;AAN01274;ABC74564;ABM82640;ABM85817;CAA48505;EAX04484;EAX04485;NP_000667;P29275 Hs.167046 1655855;1706620;1745029;2114098;2183891 ADORA2B;D17S1679;GDB:593101;SHGC-82711;STS-X68487 ADORA2 OTTHUMP00000065212;adenosine receptor A2b APPROVED protein-coding ENSG00000170425 264 15971 600446 REVIEWED 1353885 ADPRTL4 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 4 22 22 22 q11.1 756842 780228 - 15514493 15538288 - 17134691 17158088 - 18701435;10591208;16461635;20218899;20496165;20574454 23783 AP000365;DN918251;DV080440;NG_002623;NR_040115 pseudo 274 VALIDATED 1353628 ADPGK ADP-dependent glucokinase ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [PubMed 14975750]).[supplied by OMIM, Mar 2008] 15 15 15 q24.1 49922511 49954930 - 70830763 70863114 - 73043708 73076126 - 737633;6480464;6907045 12477932 22219026;16713569;16344560;16303743;15489334;14975750;14702039;11230166;16169070;19309449;19903754;20379614;22939629;21963094;23263486 83440 H3BN66;H3BRS6;H3BTH4;H3BU35;H3BUC3;Q9BRR6 ABBA01038721;AC009712;AF204270;AK055526;AK075560;AK293282;AK294391;AL136873;AL832254;AMYH01006770;BC006112;BC018074;BC044589;BE018185;CH471082;CR533447;CS051413;DA031990;DA208247;DB279245;NM_031284;NR_023318;NR_023319 AAH06112;AAH18074;AAL31473;ACE86460;ACE87141;BAB70941;BAC11699;BAG56809;BAG57646;CAB66807;CAG38478;CAH10598;CAI72201;EAW77914;EAW77915;EAW77916;EAW77917;EAW77918;EAW77919;EAW77920;EAW77921;NP_112574;Q9BRR6 Hs.654636 1754349;1855412;2174871;2174873;2185439;5022578;5037552 A005M18;D15S838;D1S1423;D8S2279;G20332;SHGC-132374;SHGC-24194 2610017G09Rik;ADP-GK;DKFZp434B195 ADP-dependent glucokinase;ATP-dependent glucokinase;rbBP-35 APPROVED protein-coding ENSG00000159322 25250 12429 611861 VALIDATED 732427 ADPRH ADP-ribosylarginine hydrolase The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes, which require DTT for maximal activity, the human enzyme is DTT-independent. [provided by RefSeq, Jul 2008] 3 3 3 q13.31-q13.33 117707084 117717352 + 120781213 120791482 + 119298523 119308792 + 1580863;6480464 8349667;15546898;15489334;12477932;12070318;9193669;19407395;17207965;21044950 141 C9JZW7;P54922 ABBA01061581;ABBA01061582;AC073352;AK291787;AK304560;AK313369;AMYH01013419;BC020574;BC063883;BC074769;CH471052;L13291;NM_001125 AAA35555;AAH63883;AAH74769;ADQ31983;BAF84476;BAG36168;BAG65353;EAW79561;EAW79562;EAW79563;NP_001116;P54922 Hs.99884 1649583;2107817;2186587 ADPRH_8162;RH12819;STS-L13291 ARH1 ADP-ribose-L-arginine cleaving enzyme;ADP-ribosylarginine hydrolase;OTTHUMP00000215216;OTTHUMP00000215217;OTTHUMP00000215218;OTTHUMP00000215219;[Protein ADP-ribosylarginine] hydrolase APPROVED protein-coding ENSG00000144843 269 04359 603081 REVIEWED 1604325 ADPRM ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent 17 17 17 p13.1 10631781 10645729 + 10541652 10555600 + 10600927 10614875 + 6480464 18352857;16344560;12477932 56985 Q3LIE5 AB073393;ABBA01054979;AC002347;AF168715;AK292629;AMYH01008107;BC001294;BC070155;CH471108;DA280275;DA305828;NM_020233 AAF87317;AAH01294;AAH70155;BAE45723;BAF85318;EAW89995;EAW89996;NP_064618;Q3LIE5 Hs.47668;Hs.708369 1677766;1677816 RH94236;RH98491 C17orf48;MDS006;NBLA03831 ADP-ribose/CDP-alcohol pyrophosphatase;ADPRibase-Mn;CDP-choline phosphohydrolase;OTTHUMP00000160900;manganese-dependent ADP-ribose/CDP-alcohol diphosphatase APPROVED protein-coding 30925 17473 VALIDATED 735600 ADORA3 adenosine A3 receptor This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p13.2 111827493 111908120 - 112025970 112106597 - 1580863;1300263;6480464 10699369 19086053;19019667;18996102;18653544;18636149;18351132;17728764;17348028;17216675;17170310;16849509;16710414;16282197;16242072;15849244;15489334;15355922;15240539;15147729;14978250;14688204;12975309;12695530;12600879;12477932;12435805;12406340;12152652;11891221;11214319;11111832;9618527;9293494;8889548;8617363;8234299;7607699;19095736;9380026;9164961;9837869;8399349;19426966;15324660;21715680;18240029;19794965;19883624;20190146;20237496;20379614;2834384;19913121;20602615;20628086;20716228;18577758;20732875;22146575;21830157;21542986;21675873;22682496;22217884;22378888;21841534;23027555;18051367;22906537;23251661 140 H0Y6K0;H0Y7W7;P33765;Q5QNY8;Q6P2N6 ABBA01068397;ABBA01068398;AK313095;AL390195;AL391063;AMYH01000946;AY011231;AY136749;AY358644;BC029831;BC041707;BC064411;BM675096;CH471122;DB447202;GM047590;L20463;L22607;L77729;L77730;NG_032119;NM_000677;NM_001081976;NM_020683;S81868;X76981 AAA16365;AAA35949;AAB02790;AAD14378;AAG35155;AAH29831;AAH41707;AAH64411;AAN01275;AAQ89007;ABM83375;ABM86587;BAG35919;CAA54288;CAV33769;EAW56502;NP_000668;NP_001075445;NP_065734;P33765;Q6P2N6 Hs.281342 1651846;1745729;1795324;2140097;2190803 ADORA3;ADORA3_1557;GDB:632846;RH69986;SHGC-12531 A3AR;AD026;RP11-552M11.7;bA552M11.5 OTTHUMP00000013476;OTTHUMP00000013479;OTTHUMP00000013739;OTTHUMP00000082917;adenosine receptor A3 APPROVED protein-coding ENSG00000121933 268 08984;12424 600445 REVIEWED 1313790 ADPRHL1 ADP-ribosylhydrolase like 1 ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008] 13 13 13 q34 94904802 94935830 - 113124261 113155840 - 114076260 114107839 - 6480464 15489334;15057823;12477932;12070318;17207965 113622 Q8NDY3 ABBA01019869;AJ313429;AL160251;AMYH01005401;AMYH01005402;BC009755;CH471085;NM_138430;NM_199162 AAH09755;ADQ31850;CAC86114;EAX09208;EAX09209;NP_612439;NP_954631;Q8NDY3 Hs.98669 1675973 RH94126 ARH2 ADP-ribosyl-hydrolase;ADP-ribosylhydrolase 2;OTTHUMP00000018762;OTTHUMP00000018763;OTTHUMP00000018764;[Protein ADP-ribosylarginine] hydrolase-like protein 1 APPROVED protein-coding ENSG00000153531 21303 12431 610620 VALIDATED 734051 ADRA1D adrenoceptor alpha 1D Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq, Jul 2008] 20 20 p13 4149278 4177659 - 4201278 4229659 - 1559318;1580863;5508374;6480464 11454900;15795180 10820200;10969806;1656955;10860850;7746284;19458937;19086053;18628404;18257748;18187928;17973108;17681068;17660397;17404580;17384146;16533813;15690361;15525470;15297446;14736874;14626446;12442007;12409310;11780052;8183249;8125015;8039425;8024574;7815325;1359975;22889411;12184796;18240029;16754659;19913121;20628086;19212140;21063774;21115837;15123239;23205498;19322201 146 B0ZBE0;P25100 ABBA01053850;ABBA01053851;ABBA01053852;AL121675;AL357040;AMYH01011683;AMYH01011684;CH471133;D29952;EU326302;L31772;NM_000678;S70782;U03864 AAB31163;AAB59487;AAB60351;ACA05908;BAA06222;EAX10455;NP_000669;P25100 Hs.557 1654387;2124266;7187388 RH64141;STS-M76446 ADRA1;ADRA1A;ADRA1R;ALPHA1;DAR;dJ779E11.2 OTTHUMP00000030160;adrenergic, alpha -1D-, receptor;adrenergic, alpha-1A-, receptor;adrenergic, alpha-1D-, receptor;alpha-1A adrenergic receptor;alpha-1D adrenergic receptor;alpha-1D adrenoceptor;alpha-1D adrenoreceptor;alpha-1D-adrenergic receptor;alpha-adrenergic receptor 1a APPROVED protein-coding ENSG00000171873 280 00079 104219 REVIEWED 736081 ADRA1A adrenoceptor alpha 1A Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encode four different isoforms with distinct C-termini but having similar ligand binding properties. [provided by RefSeq, Jul 2008] 8 8 p21.2 26661584 26778839 - 26605667 26722922 - 1559318;1580863;1625780;1625770;1625775;5508374;5688364;6480464;5688366;5688369;5688371;5688368;5688377;5688340;5688352;5688374 11454900;12433595;16371063;17054657;15795180;21722710;20974230;19540213;16524515;20886573;10841349;19011682;16890732;114750 22091949;9490024;7737411;10860850;10671514;8396931;8183249;19352218;19322003;19105822;19102884;19095219;19086053;18996102;18821565;18523139;18413308;18351393;18331634;18257748;17973108;17972277;17681068;17655760;17556657;17408692;17075692;16823803;16690783;16685204;16645408;16633140;16536786;16153395;16043131;15946947;15917235;15824464;15626751;15525470;15474515;15297446;15179408;15136785;14626446;12782672;12707939;12544508;12519093;12477932;12409310;11425010;11154706;10587338;10493934;10334511;9359081;8832064;8564208;8024574;7815325;7805763;1970822;1363873;20129829;12184796;18240029;18524654;19444285;19476811;19520158;19565482;19730237;19763272;19874574;19918262;19919991;20004544;20044737;20173430;20379614;19913121;20628086;20705341;21063774;16754659;21223784;21519279;21262225;21738688;21571945;21982020;22089237;21792097;22037178;23460120;22952603 148 B0ZBD3;E7EW16;Q6RUJ8 AB065703;ABBA01005577;ABBA01005578;ABBA01005579;AC015564;AC022839;AC091675;AF013261;AF395806;AK289548;AMYH01018593;AY389505;AY491775;AY491776;AY491777;AY491778;AY491780;AY491781;BC095512;CH471080;D25235;D32201;D32202;EU326301;L31774;NG_029395;NM_000680;NM_033302;NM_033303;NM_033304;S76001;U02569;U03866;U08994 AAA18783;AAA93114;AAB59486;AAB60353;AAC06138;AAD14205;AAH95512;AAK77197;AAQ91331;AAR84644;AAR84645;AAR84646;AAR84647;AAR84649;AAR84650;ACA05899;ACA05901;ACA05903;ACA05905;BAA04960;BAA06900;BAA06901;BAC05926;BAF82237;EAW63569;EAW63570;EAW63571;EAW63572;NP_000671;NP_150645;NP_150646;NP_150647;P35348 Hs.709175 1664924;1665301;1672654;1767533;2131013;5015619;5022200;5022450;5037552 D10S275;D11S3114;D8S2033;D8S2279;L18426;RH45859;SGC35557;SGC35558;WI-17142 ADRA1C;ADRA1L1;ALPHA1AAR G protein coupled receptor;OTTHUMP00000125310;OTTHUMP00000125311;OTTHUMP00000125312;OTTHUMP00000125313;adrenergic receptor, alpha 1a;adrenergic, alpha -1A-, receptor;adrenergic, alpha-1A-, receptor variant 1;adrenergic, alpha-1A-, receptor variant 3;adrenergic, alpha-1A-, receptor variant 5;adrenergic, alpha-1A-, receptor variant 8;adrenergic, alpha-1C-, receptor;alpha-1A adrenergic receptor;alpha-1A adrenoceptor;alpha-1A adrenoreceptor;alpha-1C adrenergic receptor;alpha-adrenergic receptor 1c APPROVED protein-coding ENSG00000120907 277 00081 104221 REVIEWED 733119 ADRA1B adrenoceptor alpha 1B Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. [provided by RefSeq, Jul 2008] 5 5 q33.3 159276318 159332595 + 159343740 159400017 + 1559318;1580863;1625771;1625772;5508374;6480464 11454900;16095979;14581480;15795180 22019450;1328250;2154750;10820200;19334040;19086053;19058789;18523139;18336813;18257748;17973108;17681068;17365508;17220353;16645408;16352594;16297597;15824464;15690361;15525470;15297446;15220331;14736874;14626446;12695539;12644451;12409310;12023679;10652206;9481484;9353340;8617782;8183249;8024574;7815325;1706716;1662393;12184796;12477932;18240029;19910028;19919991;20379614;20468064;18577758;19913121;20628086;16754659;20538960;20816195;21063774;20857090;21224381;21223784;21298476;22723743 147 P35368 ABBA01044235;AC011343;AC068657;AC127458;AMYH01015758;BC136568;BC136569;BQ576306;CH471062;EU332831;L31773;M99589;M99590;NM_000679;U03865 AAB59485;AAB60352;AAI36569;AAI36570;ABY87520;EAW61572;NP_000670;P35368 Hs.368632 1755671;1792428;2127160;2152137 D5S2442;PMC150908P1;RH69212;SHGC-142517 ADRA1;ALPHA1BAR OTTHUMP00000160844;adrenergic, alpha-1B-, receptor;alpha-1B adrenergic receptor;alpha-1B adrenoceptor;alpha-1B adrenoreceptor;alpha-1B-adrenergic receptor APPROVED protein-coding 278 00080 104220 REVIEWED 731289 ADRB1 adrenoceptor beta 1 The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Jul 2008] 10 10 q25.3 115793796 115796657 + 115803806 115806667 + 737773;1559319;737774;1331525;1580863;4145102;4140391;4140443;5129127;5129131;5129149;5129114;5129135;5129132;5129115;5129119;5129118;5129125;5129107;5129116;6480464;6893642;6893641;6893638;6893644;6907045;7240710;7241557;7241563;7241565;7241568;7241815;7241549;7241580 12161655;10577992;14502278;15118671;20948559;19110970;19127141;19060223;18306009;11527135;18275933;18287209;21054861;19587314;19785950;19283893;20203292;20451506;21491159;21831645;20959119;17143192;8181801;1648674;17278011;19745105;20398560;15592645 10212248;16316992;19576569;19378229;19301767;19094446;19086053;19073901;19056576;19036891;19033826;19010176;18996102;18947427;18937294;12815745;12724327;12709726;12643891;12544508;12529373;12519093;12455717;12422153;12391161;12374873;12270132;12244098;12197595;12140284;12106601;12090746;12069593;12032746;12029453;12023679;11942593;11854867;11753577;11700307;11526121;11447084;11337934;11140838;11052857;10995758;10862778;10794544;10535961;10477438;9843378;8892658;7583452;6305985;2825170;2536864;2465637;2154750;18936436;18797399;18794726;18776959;18773997;18772317;18754404;18702968;18702937;18679149;18625943;18622236;18615004;18596718;18540901;18534365;18479335;18452871;18429752;18413560;18413308;18403719;18346809;18331634;18323523;18311486;18308161;18298953;18253135;18239290;18219297;18209576;18193079;18158268;18155231;18075464;18059082;17998459;17919552;17893006;17845930;17680533;17667029;17644825;17635183;17591269;17585213;17541557;17512307;17496726;17463065;17383306;17345787;17339538;17335470;17334644;17329986;17270896;17223428;17217681;17118120;17023080;16997396;16946993;16940053;16914520;16907703;16844790;16815314;16785856;16765375;16760361;16728691;16648137;16534528;16500896;16487965;16485781;16421173;16402084;16325708;16315032;16287427;16227135;16210433;16189366;16187973;16153393;16122377;15917856;15864115;15861037;15833937;15824464;15735607;15719258;15685248;15564877;15542284;15479221;15464701;15388645;15358775;15342173;15331590;15312808;15237695;15212839;15212591;15086532;15079793;15055253;14990580;14734649;14553962;14534524;12921807;12851615;12847069;12844134;22378779;22340652;21464135;20129829;20414837;20587416;21516734;12184796;15452121;15932670;18240029;19037712;19477404;19509284;19515093;19538012;19542315;19553224;19578796;19621046;19623647;19628119;19673943;19743955;19779464;19842931;19845516;19883298;19956635;20023040;20044737;20079238;20116105;20144152;20185488;20235788;20300048;20352314;20374546;20384459;20459474;20468064;20470286;20537417;12036966;20426789;20643254;20443839;20123316;20581797;20602615;20625396;19913121;20628086;20693591;20705341;20731869;20803192;20821015;20538960;20831043;20952631;21034538;21044781;21059181;22703382;21238583;20726983;19167638;22815685;18787115;23261005;21305273;21573230;21553224;21422729;21375401;21626217;21527343;22299391;21599570;21311897;21878665;22994654;23114278;23060133;22192668;22306453;22617224;21909110;22253823;22388998;21847570;21807569;22447021;22495925;22723743;23275278;23318885;23115322;23223178;23533220;15123239;23202124;22742717;22811559;23257656 153 P08588 ABBA01062983;AF169006;AF169007;AF272890;AL355543;AMYH01003085;AY567837;CH471066;CS566006;EU332832;HI639505;J03019;NG_012187;NM_000684 AAA51667;AAD53696;AAD53697;AAI69224;AAI69225;AAI69226;AAS66983;ABY87521;CAN37601;CBX55891;EAW49485;NP_000675;P08588 Hs.99913 1742217;1775185;1775719;1790733;2113952;5493605 ADRB1;GDB:193846;RH68963;STS-U29690;UniSTS:256461;UniSTS:489671 ADRB1R;B1AR;BETA1AR;RHR OTTHUMP00000020519;adrenergic receptor, beta 1;adrenergic, beta-1-, receptor;beta-1 adrenergic receptor;beta-1 adrenoceptor;beta-1 adrenoreceptor APPROVED protein-coding ENSG00000043591 285 00181 109630;607276 REVIEWED 1319201 ADPRHL2 ADP-ribosylhydrolase like 2 This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009] 1 1 1 p34.3 34828871 34833951 + 36327073 36332120 + 36554453 36559533 + 6480464 17991898;22433848;17075046;17015823;16710414;16511307;16278211;15489334;14702039;12477932;12070318;8125298;16169070;18029348;21139048 54936 B7ZAN4;Q9NX46 ABBA01023317;AF212236;AJ313333;AJ427295;AK000453;AK223037;AK295283;AK316349;AL138787;AMYH01000492;BC014169;CH471059;CR457237;DC365461;NM_017825 AAH14169;AAK14922;BAA91174;BAD96757;BAG58267;BAH14720;CAC85940;CAD20316;CAG33518;EAX07389;EAX07390;NP_060295;Q9NX46 Hs.18021 1662974;1850692 RH16011;SHGC-74600 ARH3;FLJ20446 ADP-ribosylhydrolase 3;OTTHUMP00000008926;[Protein ADP-ribosylarginine] hydrolase-like protein 2;poly(ADP-ribose) glycohydrolase ARH3;protein ADP-ribosylarginine hydrolase-like protein 2 APPROVED protein-coding ENSG00000116863 21304 12432 610624 REVIEWED 731080 ADRA2B adrenoceptor alpha 2B Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. This intronless gene encodes the alpha2B subtype, which was observed to associate with eIF-2B, a guanine nucleotide exchange protein that functions in regulation of translation. A polymorphic variant of the alpha2B subtype, which lacks 3 glutamic acids from a glutamic acid repeat element, was identified to have decreased G protein-coupled receptor kinase-mediated phosphorylation and desensitization; this polymorphic form is also associated with reduced basal metabolic rate in obese subjects and may therefore contribute to the pathogenesis of obesity. [provided by RefSeq, Aug 2011] 2 2 q11.1 96142350 96145615 - 96778623 96781888 - 1559314;1559315;1559313;1580863;1300265;2313541;2313542;2313545;2313548;2313543;2313544;6480464 12535806;12121839;14744925;10404816;18953403;17516297;15660746;17070424;17277585;17039423 2164221;19352218;19056576;18996102;18854756;18596718;18456256;18054844;17660814;17625217;17620957;17595424;17410123;17370102;16907703;16776624;16645408;16336817;16269962;16247508;15920038;15900285;15900214;15893292;15864138;15864122;15815621;15731590;15719258;15592690;15309292;15166301;15037199;12946937;12917501;12822042;12629104;12519093;12477932;12401126;11753579;11345359;11140838;11056163;10647009;10224112;9435676;9235896;3012234;2842764;2173582;2172775;2169434;11154706;22218095;22743060;2834384;20424170;18240029;19477270;19477404;19593211;19728989;19781422;19815603;19826083;19874574;20044737;20051907;20110158;16531006;17215105;20613626;20651814;20692245;20705341;11313909;20401689;21159032;23105096;21965191;22570080;21357695;21878072;20739228;21942960;21854681;21259387;22170367;22025613;22839581;22404651;22560155;23225885;22701600 151 A2RUS0;P18089 AA887330;ABBA01036597;AC092603;AF005900;AF316895;AMYH01010721;AY548167;BC133021;BC136537;BF475329;CH471207;CV806541;DQ057076;EU332847;M34041;M38742;NG_032950;NM_000682 AAA51666;AAA62823;AAB62558;AAI33022;AAI36538;AAK01635;AAS55646;AAX93218;AAY43127;ABY87536;EAW71390;NP_000673;P18089 Hs.247686 1685708;2218194;5492567;5493021 ADRA2B__4260;RH80277;UniSTS:481696;UniSTS:483802 ADRA2L1;ADRA2RL1;ADRARL1;ALPHA2BAR;alpha-2BAR ADRA2B adrenergic, alpha-2B-, receptor;G-protein coupled receptor;OTTHUMP00000205577;aadrenergic, alpha-2b-, receptor;adrenergic receptor alpha 2B;adrenergic, alpha-2B-, receptor;alpha-2 adrenergic receptor subtype C2;alpha-2-adrenergic receptor-like 1;alpha-2B adrenergic receptor;alpha-2B adrenoceptor;alpha-2B adrenoreceptor;alpha-2B-adrenergic receptor;alpha-2BAR APPROVED protein-coding ENSG00000222040 282 00086 104260 REVIEWED 737142 ADRA2C adrenoceptor alpha 2C Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008] 4 4 p16 3738094 3740051 + 3768296 3770253 + 1300355;1580863;6480464;6893568;6893571;7240710 12374873;20007733;12946573 9371698;10196213;19423370;19352218;19309415;18947427;18835330;18794726;18776959;18702968;18698227;18511740;18487435;18435421;18320080;18308161;18075481;18071056;17971028;17655760;17644575;17496726;17383306;17351367;17223428;17192578;17075692;16636200;16605244;16569551;16464220;16407897;16299019;16187973;15946904;15920038;15861038;15719258;15683753;15592690;15542284;15345481;15319474;12946937;12210281;11317218;11140838;10945659;10801795;10647009;10224112;9235896;8188260;7688069;2842764;1849485;1349607;11154706;16531006;17215105;20128806;12477932;18240029;19444546;19477270;19477404;19742303;19874574;19880803;20398908;11313909;18577758;20613626;20692245;20705341;21041608;19167638;22040172;21298476;22503931;23275278;22560155 152 D6RGL0;P18825;Q4W594 ABBA01029458;AC141928;AF280399;AF280400;AMYH01013895;AMYH01013896;AY455666;AY605898;BC142625;CS566010;D13538;EU332833;HI639509;J03853;NG_012640;NM_000683;U72648;X72924 AAA35513;AAC78723;AAG28076;AAG28077;AAI42626;AAR18071;AAT02221;AAY41059;ABY87522;BAA02737;CAN37604;CBX55893;NP_000674;P18825 Hs.123022 1661855;1775960;5492869 D4S3282;STS-J03853;UniSTS:483109 ADRA2L2;ADRA2RL2;ADRARL2;ALPHA2CAR OTTHUMP00000216667;adrenergic receptor, alpha 2c;adrenergic, alpha-2C-, receptor;alpha-2 adrenergic receptor subtype C4;alpha-2C adrenergic receptor;alpha-2C adrenoceptor;alpha-2C adrenoreceptor;alpha-2C-adrenergic receptor;alpha-2CAR;alpha2-AR-C4 APPROVED protein-coding ENSG00000184160 283 00085 104250 REVIEWED 737381 ADRA2A adrenoceptor alpha 2A Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Studies in mouse revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes alpha2A subtype and it contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008] 10 10 q25.2 112826911 112830560 + 112836790 112840665 + 1559309;1331525;1358368;1580863;1625183;6480484;6480273;6480479;6480481;6480482;6480483;6480488;6480464;6480487;6480106;2316628;6480490;6893571 16178932;15118671;10909127;16636200;19150055;21745713;21669254;21542970;20047711;19894027;17959985;20302880;21871540;19965390;20691504;12946573 22091949;16823803;16809338;16806103;16728691;16605244;16583406;16567612;16531006;16513442;16464220;16389583;16333651;16172611;15939803;15920038;15824464;15795790;15719258;15719154;15717291;15653687;15592690;15520832;15494033;15489334;15199368;15164054;15138209;15070958;15028622;15006432;12946937;12815749;12707939;12627476;12544508;12529373;12477932;12370125;12080184;12054508;12023679;12019440;11888275;10896916;1354394;9624180;2823383;6259160;19423370;19401164;19388931;19365399;19352218;19309415;19088492;19086053;19058789;18996102;18842695;18794646;18725220;18600088;18561481;18547701;18511740;18480058;18314873;18200436;18075481;17971028;17894416;17655843;17655760;17612790;17544870;17522710;17512307;17283289;17215105;17159089;17081983;17075692;17034020;16917924;16869226;16854373;11886485;11732925;11475011;11467765;11425010;11343863;11248750;11140838;11039642;10948191;10647009;10224112;9235896;8889548;8226727;8098045;8011430;7887906;7876239;2568356;2170371;1849485;1678850;1678390;1385431;1334200;11154706;15782186;21103886;10948198;18240029;19439247;19477270;19491387;19506906;19568979;19604092;19833115;19834535;19874574;19876010;19922756;20044737;20081858;20110357;20135061;20146095;20419449;20468064;20526338;10952463;18577758;19913121;20532885;20551163;20571754;20602615;20613626;20628086;20692245;20705341;20731965;11313909;20696855;20660048;20538960;20833658;20864182;20952631;21059181;21063237;21070505;21105277;23105096;21104443;21325151;21613201;21298412;22940547;20850464;21455730;21823169;23207081;22061269;22581228;23153004;22694918;15123239;22560155 150 P08913 ABBA01063019;AF262016;AF281308;AF284095;AF316894;AL158163;AMYH01003065;AY032736;BC035047;BC050414;BM682651;CH471066;DQ149926;DQ285607;EU332846;M18415;M23533;NG_012020;NM_000681 AAA51664;AAA51665;AAF91441;AAG00447;AAH35047;AAH50414;AAK01634;AAK26743;AAK51162;AAZ73101;ABB72683;ABY87535;EAW49547;NP_000672;P08913 Hs.249159 1681586;1742221;2138424;2139567;2218192 ADRA2A__4205;D10S1861;GDB:193856;RH93859;STS-AA040321 ADRA2;ADRA2R;ADRAR;ALPHA2AAR;ZNF32 OTTHUMP00000020485;adrenergic receptor, alpha 2a;adrenergic, alpha-2A-, receptor;alpha-2 adrenergic receptor subtype C10;alpha-2-adrenergic receptor, platelet type;alpha-2A adrenergic receptor;alpha-2A adrenoceptor;alpha-2A adrenoreceptor;alpha-2AAR subtype C10 APPROVED protein-coding ENSG00000150594 281 00078 104210 REVIEWED 731036 ADRBK1 adrenergic, beta, receptor kinase 1 The product of this gene phosphorylates the beta-2-adrenergic receptor and appears to mediate agonist-specific desensitization observed at high agonist concentrations. This protein is an ubiquitous cytosolic enzyme that specifically phosphorylates the activated form of the beta-adrenergic and related G-protein-coupled receptors. Abnormal coupling of beta-adrenergic receptor to G protein is involved in the pathogenesis of the failing heart. [provided by RefSeq, Jul 2008] 11 11 q13.1 66790481 66810605 + 67033905 67054029 + 1580269;737775;1580863;632163;1625784;1625786;1625788;1625789;1625791;737776;1625790;4140391;5133417;5688380;5688373;6480464;5688378;5685370;6484113;6907045;7207470;5135529;7207060 16142243;9618528;1403099;17256744;15097244;10642272;16478977;15994203;11331748;9931137;19110970;16304060;10094932;18662895;16849637;17996024;19395963;19229505;15637145 17986524;1339451;19400979;19338266;19306925;19257866;18511496;18463167;18451066;18425130;18369319;17998459;17544362;17482545;17276003;17146290;17102134;17055984;17008309;17006543;17000469;16984558;16920721;16725308;16605244;16356165;16121194;16081410;16077899;15919661;15870073;15843435;15778405;15653687;15618519;15542600;15489334;15471870;15271984;14997482;14729942;14654844;14557268;12885252;12750365;12679936;12639913;12624098;12552191;12507501;12486133;12477932;12456365;12435819;12379128;12351722;12163475;12130708;12130691;12123746;12107237;11762794;11517230;11309381;11278469;11042191;11040053;10896954;10884381;10861009;10858453;10852916;10754297;10744734;10727525;10722682;10617630;10574913;10467231;10379886;10091590;10085131;10085129;15051637;9501202;9446593;8885248;8662816;8195124;7876239;7836371;2037065;9211925;9826657;16091361;17548351;15569306;15620700;16094730;19292735;19487588;19620130;19815545;19846537;19906838;20080565;20468064;20807772;20443852;20460384;20443948;20627936;20493668;19913121;20628086;20730384;20814022;12381737;20696855;21081496;21127457;21357420;21283592;21464134;22196842;20335112;17893145;20684281;23029581;23494575;21705320;21473908;20501412;21900206;21952200;21784156;22089113;21983013;22193721;19953087;21890473;22589388;22375000;21988832;23139825;23221335;23455922;23705503;22731384;23076141;23362259;22505724;22735336;23467820 156 E9PRV7;P25098 AB209588;ABBA01024041;ABBA01024042;AI888604;AK131506;AMYH01003742;AP001885;BC037963;BC090863;CH471076;DN989901;EU326303;M80776;NM_001619;U08435;U08436;U08437;U08438;X61157 AAA58391;AAB60689;AAH37963;AAH90863;ABM82074;ABM85254;ACA05909;BAD92825;CAA43470;EAW74581;EAW74582;NP_001610;P25098 Hs.83636 2113958;2177282;2191167;5492139 ADRBK1;MARC_15697-15698:1013523581:1;WI-15244;adrbk1sts1 BARK1;BETA-ARK1;FLJ16718;GRK2 G-protein coupled receptor kinase 2;OTTHUMP00000235171;beta-ARK-1;beta-adrenergic receptor kinase 1 APPROVED protein-coding ENSG00000173020 289 00182 109635 REVIEWED 737467 ADRB3 adrenoceptor beta 3 The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. [provided by RefSeq, Feb 2009] 8 8 p12 37939673 37943341 - 37820513 37824184 - 1559325;1559326;1559323;737773;1580863;1331525;1300267;2313165;2313163;2313161;2313164;2313148;2313149;2313167;2313158;2313166;5129115;5129107;5129118;5684357;5684359;5684890;2292119;5684917;5684773;5684403;5684400;5684412;5684422;5684775;5684894;2311642;5684776;5684892;5684893;5684895;5684355;6480464;5684421;5684398;5684409;6907045;7240710 9126344;10421225;8011597;12161655;15118671;7609752;11014217;16444766;16634992;15743038;19659999;17727676;19158405;17299491;10981554;21054861;20203292;19785950;20123316;19373220;18492028;17999941;21549119;9892244;9867224;9313761;11229427;21285172;20808804;11803250;17440948;20536507;15318095;12739037;10930169;20739470;10582543;11273992;11882399 17640319;17631141;17626108;17624182;17616777;17591269;17512307;17476189;17445027;17439327;17378367;17345789;17345787;17342473;17299381;17270896;17264845;17225053;17190106;17124363;17087055;17046546;16820065;16779985;16715838;16648810;16493638;16449022;16408483;16369102;16344560;16320158;16301818;16286518;16276029;16054001;16027735;16009000;15959859;15956122;15942638;15939803;15917856;15915764;15833937;15824464;15751274;15670186;15641247;15613846;15585565;15563584;15543217;15536594;15489932;15489334;15479221;15472194;15464701;15355441;15340101;15334382;15334374;15302798;15193960;15192823;15179018;15166301;15079793;15061987;15042014;14747257;14742851;14739355;14715679;14713387;14708035;14690019;14671190;14506613;12962933;12917707;12824951;12739018;12732844;12709137;12690078;12670949;12647276;12629568;12568179;12561621;12544508;12477932;12453902;12442007;12411100;12410955;12406043;12370850;12241539;12169859;12164325;12133431;12082592;12062855;12037740;12008746;11984699;14510956;11949887;11875710;11872697;11854867;11808891;11798745;11769635;11743057;11743056;11716317;11706779;11699048;11592045;11576322;11573151;11532330;11522702;11466580;11439286;11434877;11380082;11315829;11288809;11287026;11244458;11213599;11206402;11147800;11095426;11093283;11013230;10999801;10805511;10786926;10391210;8721782;15123695;2570461;1718744;19576569;19491387;19479237;19420105;19367093;19295193;19271249;19263529;19193342;19131662;19099777;19080138;19056576;19026982;18996293;18996102;18940396;18936436;18852493;18820136;18753860;18724972;18704193;18636124;18625943;18617734;18611262;18574485;18513389;18510051;18484422;18482921;18441513;18426866;18422027;18393130;18335327;18331634;18311486;18273796;18249219;18249022;18239290;18088254;18054709;17998022;17989355;17940985;17910280;17852419;17786291;17785925;8641219;8389717;8389293;8380813;8288218;7898940;7609625;7565630;1336117;15932670;18240029;19553224;19565482;19578796;19587357;19779464;19842096;20008926;20044737;20078877;20144152;20384434;20401689;20410100;20449541;20459474;20467565;20468064;20503258;20069060;12036966;22774474;19913121;20602615;20628086;20662153;20686326;20705341;20730725;20803423;20831043;21033077;21034552;21085551;22609474;20735409;20953633;21959333;21878665;21940308;21529759;22550477;22774401;23235150;22306453;22430195;21992420;22692629;22743651;23388888;23454374 155 A8KAG8;P13945 ABBA01023564;AC144573;AK293033;AK309919;AK313857;AMYH01018652;AY487247;BC075017;BQ024407;CH471080;DA904248;DQ104441;FJ170286;FJ170287;M29932;NG_011936;NM_000025;S53291;X70811;X70812;X72861 AAA35550;AAB24837;AAH75017;AAR37414;AAY88743;ACL14174;ACL14175;BAF85722;BAG36585;CAA50141;CAA50142;CAA50143;CAA51383;EAW63343;EAW63344;NP_000016;P13945 Hs.2549 1777834;1792786;1794066;1795328;2184012;5022784;5492340 ADRB3;ADRB3_418;D8S2331;MARC_68773-68774:1209743884:2;PMC164531P1;PMC310777P4;WI-9207 BETA3AR;FLJ99960 OTTHUMP00000225623;adrenergic, beta-3-, receptor;beta-3 adrenergic receptor;beta-3 adrenoceptor;beta-3 adrenoreceptor 2289520;2314765;2314776 BW458_H;GLUCO100_H;GLUCO101_H APPROVED protein-coding ENSG00000188778 288 00188 109691;601665 REVIEWED 733595 ADRB2 adrenoceptor beta 2, surface This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity and type 2 diabetes. [provided by RefSeq, Jul 2008] 5 5 q31-q32 148186349 148188381 + 148206156 148208197 + 1559320;1559319;737773;1598757;1598759;1580863;1598745;1598746;1598754;1331525;1601119;1601124;1601120;1601121;1601125;1601123;1578728;1601122;1601126;1601127;1601128;4145081;4145094;4145080;4145095;2325640;4140935;4144900;4145041;4144884;4145093;4145097;4145061;4145098;4145086;4145092;4145099;4145108;4140444;4145082;4145096;4145105;4140391;4144883;4145107;4144899;4140443;5129151;5129114;5129118;5129113;5129107;5129128;5129119;5129132;5508374;6480464;6907045;7175063;7175066;7175274;7175276;7175281;7175283;7175285;7175286;7175287;7240710 11718682;10577992;12161655;11510954;11408541;16603198;16269402;14630341;15118671;17221209;16082424;17178264;17020471;15699455;16685203;16041242;17027833;15520258;14557466;12682000;19638684;18785519;19747908;18667995;16292515;20525719;20185685;19925785;20546540;18336819;19800676;17687719;19080468;19029431;17502834;20443840;18426615;19293197;18569231;20004781;19110970;20739939;19423772;20211002;19127141;16908771;11527135;19785950;1655856;20203292;18987456;19587314;18287209;15795180;22772914;20484896;20349426;14747378;19887504;19020966;12442007;9730702;2471888 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154 Q9BYZ0;Q9UCZ3 AA886615;ABBA01026314;AC011354;AF022953;AF022954;AF022955;AF022956;AF169225;AF202305;AF203386;AK223025;AK313151;AMYH01015700;AY011291;AY136741;BC012481;BC063486;BC073856;CH471062;DA705141;DQ094845;HC295426;J02960;M15169;NG_016421;NM_000024;X04827;Y00106 AAA88014;AAA88015;AAA88017;AAB82148;AAB82149;AAB82150;AAB82151;AAD48036;AAF17569;AAF20199;AAG35451;AAH12481;AAH63486;AAH73856;AAN01267;AAY88739;BAD96745;BAG35969;CAA28511;CAA68289;CBJ06537;EAW61798;NP_000015;P07550 Hs.2551 1682013;1743199;1745399;1745401;1745403;1791159;1791418;1791568;1795326;2178460;5017703 ADRB2;ADRB2_1263;ADRB2sts1;GDB:294209;GDB:606222;GDB:606238;GDB:606265;PMC109640P1;PMC115184P1;RH79898;WI-19151 ADRB2R;ADRBR;B2AR;BAR;BETA2AR OTTHUMP00000160386;adrenergic receptor, beta 2;adrenergic, beta-2-, receptor, surface;beta-2 adrenergic receptor;beta-2 adrenoceptor;beta-2 adrenoreceptor;catecholamine receptor 2289514;2289517 BW455_H;BW456_H APPROVED protein-coding ENSG00000169252 286 00187 109690;600807;601665 REVIEWED 730840 ADRBK2 adrenergic, beta, receptor kinase 2 The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the beta adrenergic receptor kinase 2 has 85% amino acid similarity with beta adrenergic receptor kinase 1, with the protein kinase catalytic domain having 95% similarity. These data suggest the existence of a family of receptor kinases which may serve broadly to regulate receptor function. [provided by RefSeq, Jul 2008] 22 22 q12.1 24290861 24455259 + 25960861 26125259 + 1580863;632163;5133417;5147387;5685025;5685027;5685029;5685370;6480464;6484113;6907045;7207060 1403099;16304060;16484629;20677219;19728039;19400979;17996024;15637145 21916780;22623531;8427589;19086053;18359007;18274673;18075471;18029348;17621168;17106420;15728711;15498832;15087239;14702039;12808434;12477932;12130708;11762794;11668182;11517230;11060299;10754297;10591208;10085131;9826657;8662816;7695743;1869533;20216086;19766236;20379614;20398908;20468064;19913121;20628086;20734064;20596523;21784156;21139048;22086906;22505724 157 H7C099;P35626;Q8N433 ABBA01055180;ABBA01055181;AK055687;AK058103;AK123767;AK124922;AK292234;AK310398;AL022329;AMYH01012680;BC021221;BC029563;BC036797;BC063545;BX387339;CH471095;NM_005160;X69117 AAH36797;BAF84923;CAA48870;EAW59698;EAW59699;EAW59700;EAW59701;NP_005151;P35626 Hs.657494 1334767;1336133;1336957;1341006;1341668;1341696;1653354;1655226;1663395;1666464;1673926;1680242;1682121;1684036;1686398;1711482;1720211;1730744;1760211;1772081;1774990;1776656;1795330;2127095;2149539;2150348;2153422;2158684;2164187;2168077;2174523;2181690;2186142;2187359;5022578;5037552;7185247;7185672;7186498 A004P15;ADRBK2_694;AL021680;AL022481;AL022484;D1S1423;D22S1032;D22S1035;D22S1136;D22S1164;D22S1557;D22S258;D22S315;D22S414;D22S419;D22S421;D22S533;D22S557;D22S650;D22S687;D22S926;D8S2279;G31025;G49242;RH124019;RH1697;RH27881;RH69573;RH70879;SHGC-132492;SHGC-2326;SHGC-30096;SHGC-31725;SHGC-33468;STS-H06831;STS-T29185 BARK2;GRK3 G-protein-coupled receptor kinase 3;OTTHUMP00000196857;beta-ARK-2;beta-adrenergic receptor kinase 2 APPROVED protein-coding ENSG00000100077 290 00183 109636 REVIEWED 1316916 ADSL adenylosuccinate lyase Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q13.2 39072509 39092698 + 40742504 40762577 + 1598762;1598766;1598760;1580863;5135488;6480464;6907045;7240710 3360219;2937404;3690833;20005278 8366112;16973378;11428554;18029348;18524658;17188615;15571235;15489334;15471876;15461802;15342556;12833398;12590570;12477932;12368987;12016589;11256614;10958654;10888601;10591208;10090474;9545543;9266401;9195976;8404037;8125298;1302001;1574589;19405474;19570815;19615732;20562859;20877624;22939629;20933180;22863883;18649008;16196087;21963094;21988832;21110914;21139048;21890473;21906983;22505724;22812634;22180458 158 E7ERF4;P30566 ABBA01055600;ABBA01055601;ABBA01055602;AF067853;AF067854;AF106656;AK225042;AK291091;AK298187;AK300705;AK308662;AL022238;AMYH01012788;BC000253;BC018881;BP298407;CH471095;CR456368;NG_007993;NM_000026;NM_001123378;S60710;X65867 AAC21560;AAC21561;AAC60603;AAC83935;AAH00253;ABM84252;ABM87641;BAF83780;BAG60458;BAG62384;CAA46696;CAA46697;CAG30254;CAK54366;CAK54665;EAW60375;EAW60376;EAW60377;NP_000017;NP_001116850;P30566 Hs.75527 1677296;1684184;1707456;1735046;5017202;5123132 D22S966E;RH27785;RH71398;RH77705;RH98333;SHGC-84522 AMPS;ASASE;ASL OTTHUMP00000199172;OTTHUMP00000199173;adenylosuccinase;adenylosuccinate lyase APPROVED protein-coding ENSG00000239900 291 00049 103050;608222 REVIEWED 736707 ADRM1 adhesion regulating molecule 1 This gene encodes a member of the adhesion regulating molecule 1 protein family. The encoded protein is a component of the proteasome where it acts as a ubiquitin receptor and recruits the deubiquitinating enzyme, ubiquitin carboxyl-terminal hydrolase L5. Increased levels of the encoded protein are associated with increased cell adhesion, which is likely an indirect effect of this intracellular protein. Dysregulation of this gene has been implicated in carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 q13.33 60311422 60317313 + 60878027 60883918 + 1580863;6480464 16990800;11818576;8033103;19148532;18615678;18497817;17139257;17081983;16906146;16815440;16713569;16501559;15819879;15489334;14702039;12477932;11780052;10919708;20059542;20634424;20029029;20417181;18162577;18497827;18922472;18939944;19615732;19818731;20471946;20137344;20959455;21191146;19013454;19781552;22863883;21832049;21432940;16196087;18029348;17573772;20972266;21139048;21890473;21906983;19193609;22576803;18781797;19815544;20639865;21987572;22118674;21963094;23000965;23153250;22057889;22053931;22505724;22797925 11047 Q16186 ABBA01040097;AK054985;AK297567;AK307459;AL354836;AL558522;AMYH01012048;BC003059;BC010733;BC017245;BC093021;BG337785;BR000321;CH471077;CR749213;D64154;HY029018;HY178253;NM_001281437;NM_001281438;NM_007002;NM_175573 AAH10733;AAH17245;ABM84246;ABM87634;BAA11023;BAG59959;CAH18070;EAW75375;FAA00246;NP_001268366;NP_001268367;NP_008933;NP_783163;Q16186 Hs.90107 1690854;2135518;5113030 RH17482;RH79208;RH91973 ARM-1;ARM1;GP110;MGC29536;Rpn13 110 kDa cell membrane glycoprotein;ARM-1;M(r) 110,000 surface antigen;OTTHUMP00000031471;adhesion-regulating molecule 1;hRpn13;proteasomal ubiquitin receptor ADRM1;proteasome regulatory particle non-ATPase 13;regulatory particle non-ATPase 13;rpn13 homolog APPROVED protein-coding ENSG00000130706 15759 06440 610650 REVIEWED 1351020 ADSSL1 adenylosuccinate synthase like 1 ADSSL1 is a muscle isozyme of adenylosuccinate synthase (EC 6.3.4.4), which catalyzes the initial reaction in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP) (Sun et al., 2005 [PubMed 15786719]).[supplied by OMIM, Dec 2008] 14 14 14 q32.33 85245724 85268719 + 104261579 104284692 + 105190534 105213647 + 5143928;5143930;1598762;6480464;6907045 2560335;10218106;3360219 15786719;15489334;14702039;12477932;11560929;1574589 122622 B3KTV4;G3V232;G3V2N1;G3V5D8;Q8N142 ABBA01002986;ABBA01002987;AK095921;AK096124;AK096720;AL583722;AMYH01006063;AY037159;BC032039;BC047904;BX248286;CH471061;NM_152328;NM_199165 AAH32039;AAH47904;AAK67646;BAC04649;BAG53216;BAG53356;CAD62614;EAW81876;NP_689541;NP_954634;Q8N142 Hs.592327 1854061;2132787;2132789 A001U22;G19662;SGC32943 FLJ38602 AMPSase 1;IMP--aspartate ligase 1;M-type adenylosuccinate synthetase;OTTHUMP00000244483;OTTHUMP00000244484;adSS 1;adenylosuccinate synthetase isozyme 1;adenylosuccinate synthetase, basic isozyme;adenylosuccinate synthetase, muscle isozyme APPROVED protein-coding ENSG00000185100 20093 12433 612498 VALIDATED 1321450 ADSS adenylosuccinate synthase This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Nov 2010] 1 1 q44 242638419 242682036 - 244571794 244615436 - 1580863;5143928;5143930;1598762;6480464;6907045 2560335;10218106;3360219 1592113;15786719;2004783;19115993;18721483;18469177;15489334;12477932;8887278;4436310;648524;21145461;1574589;18029348;20562859;22939629;21139048;21890473;21906983;22863883;23000965;23251661;22505724 159 P30520 ABBA01047198;AK025514;AK303886;AK308749;AL591594;AL645465;AMYH01001895;BC012356;BE538442;BG700800;BI559850;CH471148;NM_001126;X66503 AAH12356;ACE86444;ACE87120;BAG64822;CAA47123;EAW77102;EAW77103;NP_001117;P30520 Hs.498313 1705696;1707196;1750869;1849333;1857867;2153375;5017869 ADSS;SHGC-104641;SHGC-31639;SHGC-76611;SHGC-76618;SHGC-79184;SHGC-83429 ADEH;ADSS 2;MGC20404 AMPSase 2;IMP--aspartate ligase 2;L-type adenylosuccinate synthetase;OTTHUMP00000037982;adSS 2;adenylosuccinate synthetase (Ade(-)H-complementing);adenylosuccinate synthetase isozyme 2;adenylosuccinate synthetase, acidic isozyme;adenylosuccinate synthetase, liver isozyme APPROVED protein-coding ENSG00000035687 292 00050 103060 REVIEWED 1601680 AE01 uncharacterized LOC440670 1 1 q21.1 146401706 146420042 + 146401706 146420042 + 16079250;14702039;12477932;10574462 440670 AC026900;AL359176;XM_001717398 XP_001717450 5016673;5016954;5018987;5094058;5119126 AL033815;D1S2290;G34947;RH66976;RH80466 KIAA1245;NBPF9 hypothetical LOC440670;uncharacterized LOC440670 APPROVED protein-coding 613999 1316303 AEBP2 AE binding protein 2 12 12 12 p12.3 24745851 24829274 + 19483900 19564846 + 19592608 19675173 + 737633;6480464 12477932 16344560;16189514;15225548;10329662;19322201;12351676;16431907;21832049;21906983;21946350;23251661 121536 F5GZR7;G5EA50;H0YH08;H7BYT4;Q6ZN18 AA195771;AB209384;ABBA01067942;ABBA01067943;ABBA01067944;ABBA01067945;ABBA01067946;AC091805;AK025788;AK126973;AK131361;AK131410;AMYH01004313;BC015624;BC022220;CH471094;CX868393;DB244333;NM_001114176;NM_001267043;NM_153207 AAH15624;AAH22220;ABZ92093;BAD18513;BAD18557;BAD92621;BAG54413;EAW96398;EAW96399;EAW96400;NP_001107648;NP_001253972;NP_694939;Q6ZN18 Hs.126497 1659905;1851891;2117007;2151070;2185913 D12S1306;RH45148;RH45680;STS-N23390;WI-18350 MGC17922 AE(adipocyte enhancer)-binding protein 2;AE-binding protein 2;OTTHUMP00000239734;OTTHUMP00000239735;OTTHUMP00000239736;OTTHUMP00000239737;adipocyte enhancer-binding protein 2;zinc finger protein AEBP2 protein-coding 24051 16477 VALIDATED 1353915 AEZ acrodermatitis enteropathica, zinc-deficiency type 308 1313849 ADTRP androgen-dependent TFPI-regulating protein 6 6 6 p24.1 12941888 13007296 - 11821895 11887052 - 11713888 11779280 - 6480464 16415175;15489334;15342556;14702039;14574404;12477932;20379614;21378986;21868574;21618603;21988832 84830 D6R9A9;D6R9E5;D6RDG9;H0Y9P4;H0YAA5;Q96IZ2 ABBA01022105;AI147084;AI336841;AJ420520;AK123258;AK300919;AK310611;AK313114;AL022724;AMYH01016085;BC007011;BP330027;CH471087;DC388625;JA738637;JA738639;NM_001143948;NM_032744 AAH07011;BAG35936;BAG62551;CCF76971;CCF76972;EAW55304;EAW55305;EAW55306;NP_001137420;NP_116133;Q96IZ2 Hs.126409 1684818;1849452 RH48372;RH98426 AIG1L;C6orf105;MGC12335;RP3-413H6.1;dJ413H6.1 OTTHUMP00000016034;OTTHUMP00000016035;OTTHUMP00000221435;OTTHUMP00000221436;OTTHUMP00000221438;androgen-dependent TFPI-regulating protein;androgen-dependent TPF1-regulating protein;androgen-induced 1-like;hypothetical protein LOC84830 APPROVED protein-coding ENSG00000111863 21214 12836 614348 VALIDATED 1350331 AF8T AF8 temperature sensitivity complementing 169 309 1348567 AFA ankyloblepharon filiforme adnatum 7240710 170 310 1315812 AEBP1 AE binding protein 1 This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013] 7 7 7 p13 44241911 44252113 + 44110485 44120684 + 44143960 44154159 + 1580863;6480464 19179605;16307171;14702039;12690205;12477932;11438679;10510298;9624159;8920928;20419060;18624398;16344560;20396415;22796454;22821744;8889548;9099699;22723309 165 C9JLQ8;H7C0W8;H7C1J5;H7C391;H7C3D7;H7C4B5;Q8IUX7 AACC02000110;AB209744;ABBA01058215;AC006454;AF053944;AK090931;AK127541;AK296001;AMYH01017209;BC038588;BM672693;CH236960;CH471128;D86479;DB213495;NM_001129 AAC25585;AAH38588;BAA13094;BAC87026;BAD92981;BAG52248;BAG58775;EAL23768;EAW61119;NP_001120;Q8IUX7 Hs.439463 1771667;2146707 A006F20;RH71212 ACLP;FLJ33612 AE-binding protein 1;OTTHUMP00000159251;adipocyte enhancer binding protein 1;adipocyte enhancer-binding protein 1;aortic carboxypeptidase-like protein APPROVED protein-coding ENSG00000106624 303 04281 602981 REVIEWED 1352828 AFD1 acrofacial dysostosis 1, Nager type 7240710 171 312 154400 1601976 AEN apoptosis enhancing nuclease 15 15 15 q26.1 65565411 65576403 + 86965593 86976516 + 89164527 89175512 + 6480464 17207965;16171785;18264133;14702039;12477932;20429933;21906983;18029348 64782 H0YMJ6;Q8WTP8 AB209323;ABBA01053000;AC013489;AF318330;AF327352;AK022546;AK022624;AK308119;AMYH01006909;BC005164;BC014407;BC020988;CA441442;CH471101;NM_022767 AAH05164;AAH14407;AAH20988;AAL55837;AAL56012;ADQ32293;BAB14091;BAD92560;EAX02009;EAX02010;EAX02011;NP_073604;Q8WTP8 Hs.436102 1669226 RH44907 FLJ12484;FLJ12562;ISG20L1;pp12744 OTTHUMP00000192920;apoptosis-enhancing nuclease;interferon stimulated exonuclease gene 20kDa-like 1;interferon-stimulated 20 kDa exonuclease-like 1 protein-coding ENSG00000181026 25722 08573 610177 VALIDATED 4107292 AFAP1-AS1 AFAP1 antisense RNA 1 4 4 4 p16.1 7657683 7682522 + 7830079 7830638 + 7755817 7780655 + 12477932;23333711 84740 ABBA01012755;AC004169;AC112254;AMYH01013926;BC004397;BC014113;BC043614;NR_026892 Hs.663029 1693772;2133890;2137579;2145900;2145902;2153300;2155200;2182543 A005T26;D4S1132;G01837;G01905;G20482;SHGC-58846;SHGC-67377;SHGC-67969 AFAP1-AS;AFAP1AS APPROVED miscrna 28141 VALIDATED 6481098 AFF2-IT1 AFF2 intronic transcript 1 (non-protein coding) 100874269 AC002368 miscrna 41334 737345 AES amino-terminal enhancer of split The protein encoded by this gene is similar in sequence to the amino terminus of Drosophila enhancer of split groucho, a protein involved in neurogenesis during embryonic development. The encoded protein, which belongs to the groucho/TLE family of proteins, can function as a homooligomer or as a heteroologimer with other family members to dominantly repress the expression of other family member genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 p13.3 3003908 3013964 - 3052908 3062964 - 1580863;6480464 11390640;8365415;9809752;18438919;16713569;15057824;15006356;14702039;12477932;12441302;12050133;12030375;11748221;11416139;10748198;10660609;10395201;9887105;8889549;10825294;16169070;17353931;20676368;11266540;15489227;16002402;20163360;19460168;20936779;21937451;22863883;21245488;22354967;21139048;21890473;21906983;21987572;19322201;22505724 166 K7ELE3;K7ELQ8;K7EQH5;Q08117;Q8WY48 ABBA01002792;ABBA01002793;ABBA01002794;ABBA01002795;ABBA01002796;AC005944;AF072902;AF269289;AK094591;AK095154;AK314713;AMYH01009298;AMYH01009299;BC113735;BC113737;BG696926;BG913049;BM550097;BM908356;CH471139;N23852;NG_029870;NM_001130;NM_198969;NM_198970;U04241;U88832;X73357;X73358 AAA16223;AAC35517;AAC72103;AAD00654;AAG23172;AAI13736;AAI13738;ADR82903;BAG37257;BAG52894;CAA51768;EAW69341;EAW69342;EAW69343;EAW69344;EAW69345;EAW69346;EAW69347;NP_001121;NP_945320;NP_945321;Q08117 Hs.515053 1298107;1770453;1776133;2110243;5093656 A009U26;AES_7743;D19S1166;G32846;RH69316 AES-1;AES-2;ESP1;GRG;GRG5;TLE5 amino enhancer of split;amino-terminal enhancer of split;gp130-associated protein GAM APPROVED protein-coding ENSG00000104964 307 02556 600188 REVIEWED 1606158 AFAP1L1 actin filament associated protein 1-like 1 5 5 5 q32 144733389 144803357 + 148631651 148701558 + 148651401 148721368 + 6480464 17353931;16344560;14702039;12477932;21333378;23326307;21516130;23251661 134265 Q8TED9 ABBA01026306;ABBA01026307;AC012613;AC131025;AK074185;AK094067;AK095980;AMYH01015700;BC040723;BC125093;BC125094;BM998635;CH471062;DA792192;NM_001146337;NM_152406 AAH40723;AAI25094;AAI25095;BAB85011;BAC04277;BAC04664;EAW61787;NP_001139809;NP_689619;Q8TED9 Hs.483793 1740455;2143267;2143272;2186563;2190945;5014656;5022651 D11S2921;D5S2256E;D5S2661;L31452;MARC_11935-11936:1003495836:1;STS-AA028117;WI-16209 FLJ36748;MGC149773 AFAP1-like protein 1;OTTHUMP00000223939;OTTHUMP00000223958;actin filament-associated protein 1-like 1 protein-coding ENSG00000157510 26714 16943 614410 VALIDATED 1343236 AFF2 AF4/FMR2 family, member 2 This gene encodes a putative transcriptional activator that is a member of the AF4\FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked mental retardation. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2009] X X q28 147389831 147889899 + 147582139 148082193 + 1580863;6480464;7240710 17474147;8673086;18029348;17196195;15772651;12777533;12477932;11355014;11119302;10964075;10850542;10780779;10737800;10528856;10196698;9467002;9299237;9147647;8824884;8673085;7783162;21330300;20734064;21254876;1301146;19136466;7541938;8023854;8334699;8651274;8900249;9032643;9341861;9475603;22065534;22773736 2334 F8W6J4;P78407 AB101711;AB101712;AB101713;AB101714;AB101715;AB101716;AB101717;AB101718;AB101719;AB101720;AB101721;AB101722;AB101723;AB101724;AB101725;AB101726;AB101727;AB101728;AB101729;AB101730;AB102644;ABBA01049704;ABBA01049705;ABBA01049706;ABBA01049707;ABBA01049708;ABBA01049709;ABBA01049710;ABBA01049711;ABBA01049712;ABBA01049713;ABBA01049714;ABBA01049715;ABBA01049716;ABBA01049717;ABBA01049718;ABBA01049719;ABBA01049720;ABBA01049721;ABBA01049722;ABBA01049723;ABBA01049724;ABBA01049725;ABBA01049726;ABBA01049727;ABBA01049728;ABBA01049729;ABBA01049730;ABBA01049731;ABBA01049732;ABBA01049733;ABBA01049734;ABBA01049735;ABBA01049736;ABBA01049737;ABBA01049738;ABBA01049739;ABBA01049740;ABBA01049741;ABBA01049742;ABBA01049743;ABBA01049744;ABBA01049745;ABBA01049746;ABBA01049747;ABBA01049748;ABBA01049749;ABBA01049750;ABBA01049751;ABBA01049752;ABBA01049753;AC002368;AC005731;AC006516;AC015552;AC231841;AF012624;AJ001550;AK301927;AK311467;AMYH01023186;AMYH01023187;AMYH01023188;AMYH01023189;AMYH01023190;BC132683;BC143740;BC143744;BI030785;CH471171;L76569;NG_016313;NM_001169122;NM_001169123;NM_001169124;NM_001169125;NM_001170628;NM_002025;U48436;X95463 AAA99416;AAB71534;AAC82513;AAI32684;AAI43741;AAI43745;BAC80300;BAC80301;BAC80302;BAC80303;BAC80304;BAC80305;BAC80306;BAC80307;BAC80308;BAC80309;BAC80310;BAC80311;BAC80312;BAC80313;BAC80314;BAC80315;BAC80316;BAC80317;BAC80318;BAC80319;BAC81113;BAG63347;CAA04822;CAA64730;EAW61286;EAW61287;EAW61288;EAW61289;NP_001162593;NP_001162594;NP_001162595;NP_001162596;NP_001164099;NP_002016;P51816 Hs.496911 1340760;1645732;1664678;1667249;1689157;1702246;1702254;1702276;1714889;1715173;1732209;1733496;1742915;1776981;1789703;1789705;2115025;2136895;2136915;2171127;2173866;2175552;5095082 AFF2;AFM323YF1;DXS1318;DXS1691;DXS6687;DXS6729;DXS7394;DXS7812;DXS8091;DXS8272;DXS8273;GDB:215331;RH119837;RH120439;RH18451;RH45213;RH66769;RH70649;SHGC-7435;UniSTS:99231;WI-14955;Xq4086;Xq4087 FMR2;FMR2P;FRAXE;MRX2;OX19 AF4/FMR2 family member 2;FMR2P;OTTHUMP00000024204;OTTHUMP00000024206;fragile X E mental retardation syndrome protein;fragile X mental retardation 2 protein;protein FMR-2 APPROVED protein-coding ENSG00000155966 3776 02397 300806;309548 REVIEWED 1321706 AFAP1L2 actin filament associated protein 1-like 2 10 10 10 q25.3 109783766 109893772 - 116044573 116154505 - 116054583 116164515 - 6480464 21224076;22190283;17412687;15951569;15489334;15164054;14702039;12477932;11572484;16385451;20201926;21832049;22927913;22928011;18029348;21044950;16713569;20125193 84632 F5GZE1;F6QUH3;Q8N4X5 AB067501;ABBA01062978;ABBA01062979;ABBA01062980;AC005383;AF474151;AK123108;AK291712;AK294969;AK295538;AL133384;AL355302;AMYH01003087;AMYH01003088;AMYH01003089;BC016403;BC024314;BC033212;BC035713;CH471066;NM_001001936;NM_032550 AAH24314;AAH33212;AAQ05765;BAB67807;BAF84401;BAG53870;BAH11936;BAH12099;EAW49470;EAW49471;EAW49472;EAW49473;EAW49474;NP_001001936;NP_115939;Q8N4X5 Hs.501106 1338820;1339202;1681869;1697352;2113084;2171025 D10S1237;D10S1563;D10S1681;D10S2451;RH102174;RH91184 FLJ14564;KIAA1914;XB130 AFAP1-like protein 2;CTB-1144G6.4;OTTHUMP00000020527;OTTHUMP00000020528;actin filament-associated protein 1-like 2 protein-coding ENSG00000169129 25901 13902 612420 VALIDATED 1605642 AFAP1 actin filament associated protein 1 The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 4 4 p16 7811340 7992553 - 7760440 7941653 - 6480464 16751776;17520695;16344560;15345747;15146197;14755689;12477932;12134071;11641786;11607843;10666339;9655255;9619827;7545969;18029348;21150319;23333711 60312 Q6ZRV0;Q8N556 AB209676;ABBA01008682;ABBA01008683;ABBA01008684;ABBA01012755;AC004169;AC097381;AC112254;AC141931;AC144451;AF188700;AK127962;AK290807;AK297631;AL706541;AMYH01013926;AMYH01013927;BC015900;BC032777;BI561136;CA448961;CH471131;CN308844;D25248;DA605903;DB450895;DQ585763;NM_001134647;NM_198595 AAG17055;AAH32777;BAC87209;BAD92913;BAF83496;BAG60004;EAW82360;NP_001128119;NP_940997;Q8N556 Hs.529369 1658864;1668337;1674828;1693772;1716561;1755581;1766025;1785122;1851015;2110173;2116765;2133890;2137579;2145900;2145902;2149014;2153300;2182543;2189123 A005T26;D4S2836;D4S2855;D4S3273;D4S540;G01837;G01905;G20482;G34271;G65147;RH121625;SHGC-142434;SHGC-149413;SHGC-155347;SHGC-58846;SHGC-67377;SHGC-67801;SHGC-67969;st84j12-8d10 AFAP;AFAP-110;AFAP110;FLJ56849 110 kDa actin filament-associated protein;OTTHUMP00000155170;OTTHUMP00000217364;actin filament-associated protein 1;actin filament-associated protein, 110 kDa APPROVED protein-coding ENSG00000196526 24017 09747 608252 REVIEWED 1317426 AFF1 AF4/FMR2 family, member 1 4 4 q21 88147177 88281215 + 87856154 88062206 + 1580863;6480464 7689231;18977325;17889710;17581865;17301807;17130830;16551973;16433901;16386788;16215946;16169901;15302935;15231748;15221006;14990976;14562113;12477932;11930009;11236948;10671636;9880680;9389682;9326653;9233580;8769569;8506309;8443374;8353274;1423625;19956800;20153263;14603337;15856011;20379614;19913121;20628086;20864672;21030982;21135858;20431927;23568457;23260655;23455922;22983539;20854876;21139048;21706045;20686565;22291604;22337994;21896721;21729782;21963094;23535033;20471949;22190034;22355797;22567366;23479570 4299 D6RAU0;D6RIZ5;E7EMC5;E7ETI4;F5GXF9;H0Y9S4;P51825;Q14C88 ABBA01063515;ABBA01063516;ABBA01063517;ABBA01063518;ABBA01063519;ABBA01063520;ABBA01063521;ABBA01063522;AC092658;AC093779;AC093827;AF024541;AF177236;AF177237;AF177238;AF177239;AJ238093;AK296149;AK296243;AK300364;AMYH01014371;AMYH01014372;AMYH01014373;AMYH01014374;BC017432;BC114930;CH471057;DC340279;L13773;L25050;NM_001166693;NM_005935;X83606;Z83689 AAA36642;AAA58360;AAC51815;AAD56887;AAD56888;AAF09191;AAF09192;AAH17432;AAI14931;AAY40899;BAG58888;BAG58961;BAG62103;CAA58585;CAB52416;CAB69660;EAX05978;EAX05979;EAX05980;NP_001160165;NP_005926;P51825 Hs.480190 1646180;1654918;1655517;1662462;1665281;1666071;1721525;1722611;1726975;1769569;1776920;1797156;1847367;2119385;2123407;2124581;2129685;2155035;2155345;2155347;2157120;2159943;2163266;2163268;2167529;2168468;2168544;2168763;2173505;2176816;2176936;2179691;2180487;2186419;5093302;5094382 A005C26;A009L09;D4S2815;G15939;G20273;G32639;G33553;G34498;G54645;G59617;G60389;G62734;MLLT2;RH36599;RH36611;RH70012;RH70771;SHGC-24811;SHGC-24815;SHGC-31229;SHGC-35046;SHGC-37108;SHGC-50346;SHGC-50561;SHGC-53296;SHGC-59250;SHGC-59252;SHGC-59260;SHGC-59691;SHGC-59856;SHGC-67605;SHGC-67615;SHGC-67793;SHGC-67822;STS-AA017260;WI-12383 AF-4;AF4;AF4-MLL;MGC134969;MLL/AF4;MLLT2;PBM1 AF4/FMR2 family member 1;ALL1-fused gene from chromosome 4 protein;OTTHUMP00000161178;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2;pre-B-cell monocytic leukemia partner 1;protein AF-4;proto-oncogene AF4 protein-coding ENSG00000172493 7135 08871 159557 VALIDATED 3457950 AFG3L2P1 AFG3 ATPase family member 3-like 2 (S. cerevisiae) pseudogene 1 8 8 8 p11.1 42052060 42076817 - 43221503 43246260 - 43102346 43127103 - 347028 ABBA01021196;AC022616;AMYH01018694;NG_016585 AFG3L2P APPROVED pseudo 24169 INFERRED 1345129 AFG3L1P AFG3 ATPase family member 3-like 1 (S. cerevisiae), pseudogene 16 16 16 q24.3 75104531 75132803 + 88566489 88594696 + 90038988 90067195 + 1580863;6480464 17101804;16344560;14702039;12477932;11549317;9545647;19578364;21555518;21832049 172 ABBA01014117;ABBA01014118;ABBA01014119;AC092143;AF329691;AF329692;AF329693;AF329694;AJ001495;AJ001496;AK056488;AK090856;AK091293;AK091727;AK097044;AK126911;AK127143;AK128352;AK128804;AL832984;AMYH01007941;BC021245;BC045753;BC077734;BM986843;DA707802;DB318727;NR_003226;NR_003227;NR_003228 BAC04933;BAC86848;BAG51729;BAG52327;BAG54393;CAA04792;CAA04793;CAH56313 Hs.534773 5022578;5037552 D1S1423;D8S2279 AFG3;AFG3L1;FLJ45200 afg3 atpase family gene 3-like 1 (yeast) APPROVED pseudo ENSG00000223959 314 04315 603020 VALIDATED 1318349 AFF3 AF4/FMR2 family, member 3 This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 q11.2-q12 99530147 100125469 - 100163715 100759037 - 1580863;6480464 8555498;19240061;18622426;18616733;17554260;15815621;15704140;15489334;15146197;14702039;12743608;12477932;12203795;8889548;8662235;20453842;19359276;20072139;20219786;20379614;20444755;20498205;20431927;21330300;22983539;18029348;20854876;23028342 3899 C9J622;C9J847;C9JC67;C9JIB1;C9JMS1;C9JUC4;C9JUY1;C9JZ66;H7C3W3;H7C4C2;Q59F27;Q8NAP7 AB209634;ABBA01073935;ABBA01073936;ABBA01073937;ABBA01073938;ABBA01073939;ABBA01073940;ABBA01073941;ABBA01073942;ABBA01073943;AC010736;AC018690;AC073118;AC092667;AC093373;AC114793;AC133108;AK055117;AK091320;AK092327;AK290468;AK297407;AK308645;AMYH01010807;AMYH01010808;AMYH01010809;BC021283;BC036895;BC136579;BC144266;BI906088;BU740375;CH471127;CN409428;NM_001025108;NM_002285;U34360 AAA98763;AAH36895;AAI36580;AAI44267;AAY14792;AAY24187;AAY24278;AAY24315;BAC03864;BAD92871;BAF83157;BAH12572;EAX01854;EAX01855;EAX01856;EAX01857;EAX01858;EAX01859;NP_001020279;NP_002276;P51826 Hs.444414 1667874;1668112;1701610;1716281;1719991;1723835;1724161;1734930;1760037;1852193;2132429;2142742;2145727;2148837;2149568;2153899;2163548;2168799;2170981;2174022;2174670;5016478;5092914;5093684 A006S04;A009C10;A009U47;D2S1633E;D2S1695E;D2S1821;D2S1992;D2S2710;D2S2744;G16333;G16393;G32409;G32863;GDB:434012;RH104445;RH118653;RH121169;RH121214;RH123972;RH12868;RH18039;RH69575;SHGC-82826;WI-17152 LAF4;MLLT2-like AF4/FMR2 family member 3;MLLT2-related protein;OTTHUMP00000202880;OTTHUMP00000202881;lymphoid nuclear protein 4;lymphoid nuclear protein related to AF4;protein LAF-4 APPROVED protein-coding ENSG00000144218 6473 03272 601464 REVIEWED 1313183 AFG3L2 AFG3 ATPase family member 3-like 2 (S. cerevisiae) This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008] 18 18 p11 12319108 12367194 - 12328943 12377275 - 1580863;6480464;7240710 10395799;18029348;15489334;12477932;16169070;18769991;19615732;19748354;20208537;20354562;20562859;16251216;20725928;20877624;22252130;21832049;20186120;14623864;21827917;21900206;22022284;21139048;21890473;21595125;21080425;23000965 10939 K7EP56;Q8TA92;Q9Y4W6 ABBA01074016;AK129504;AMYH01008832;AMYH01008833;AMYH01008834;AP001029;AP005264;BC024282;BC065016;BU786821;BX091241;CH471113;DN993083;NG_023361;NM_006796;Y18314 AAH24282;AAH65016;CAB48398;EAX01551;EAX01552;NP_006787;Q9Y4W6 Hs.726355 1676360;1703260;1734546;2117610;2158833;2179779 D18S902E;RH104597;RH65391;RH75493;SHGC-36229;STS-N21031 FLJ25993;SCA28;SPAX5 AFG3 (ATPase family gene 3, yeast)-like 2;AFG3 ATPase family gene 3-like 2;AFG3-like protein 2;ATPase family gene 3, yeast;ATPase family gene 3-like 2;OTTHUMP00000162476;paraplegin-like protein;spinocerebellar ataxia 28 APPROVED protein-coding ENSG00000141385 315 05205 604581;610246;614487 REVIEWED 1601873 AFF4 AF4/FMR2 family, member 4 The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011] 5 5 5 q31 128341097 128429374 - 132238970 132327253 - 132211071 132299354 - 6480464 10588740;17389929;17081983;16344560;16189514;15489334;14702039;12477932;12065898;11355014;15856011;17643375;20159561;20379614;20471948;18029348;20431927;20153263;21330300;23251033;20854876;21139048;21906983;21963094;21873227;22779921;22483617;22094252;20471949;21242887;21360054;22190034;22355797;22567366;22952844 27125 C9JCE0;H7C319;Q9UHB7 AA706988;AB209547;ABBA01068790;ABBA01068791;ABBA01068792;ABBA01068793;ABBA01068794;AC004500;AC010240;AF161355;AF173886;AF197927;AF213987;AK024831;AK055638;AK126818;AK307407;AMYH01015617;BC025700;BC040454;BC063007;BC100287;BC137226;BC144538;BX537585;CH471062;DA934874;NG_030340;NM_014423 AAF18981;AAF28915;AAH25700;AAH63007;AAI00288;AAI37227;AAM00184;AAQ13633;BAD92784;EAW62301;EAW62302;EAW62303;EAW62304;EAW62305;NP_055238;Q9UHB7 Hs.519313;Hs.664840 1648298;1656168;1780506;1798570;1799244;1799342;1800848;1801428;1801700;1802524;1803702;1805842;1806688;1807492;1808938;1810328;1810914;1812502;1813074;1815868;1816448;1816616;1818068;1820836;1821638;1824006;1824166;1824870;1826494;1828756;1831600;1833182;1837188;1840052;1841674;1841916;1844574;2002280;2002282;2002284;2002286;2002288;2002290;2002292;2002294;2002296;2002298;2096592;2096594;2096596;2096598;2096600;2096602;2096604;2096606;2096608;2096610;2096612;2096614;2096616;2096618;2096620;2096622;2096624;2096626;2096628;2096630;2096632;2096634;2096636;2096638;2096640;2096642;2096644;2096646;2096648;2131364;2131464;2169635;2191249;2218196 AF5Q31__4262;ECD00124;ECD00470;ECD00520;ECD01287;ECD01588;ECD01729;ECD02148;ECD02757;ECD03872;ECD04301;ECD04718;ECD05452;ECD06156;ECD06455;ECD07258;ECD07556;ECD08974;ECD09266;ECD09350;ECD10090;ECD11494;ECD11905;ECD13099;ECD13179;ECD13534;ECD14361;ECD15505;ECD16937;ECD17733;ECD19760;ECD21210;ECD22034;ECD22160;ECD23501;MARC_16763-16764:1020874272:1;REN72052;REN72053;REN72054;REN72055;REN72056;REN72057;REN72058;REN72059;REN72060;REN72061;RH68797;SGC32016;SGC35217;STS-T96380;WI-18406;bac5076S;stSG601591;stSG601592;stSG601593;stSG601594;stSG601595;stSG601596;stSG601597;stSG601599;stSG601600;stSG601601;stSG601602;stSG601603;stSG601604;stSG601605;stSG601606;stSG601607;stSG601608;stSG601609;stSG601610;stSG601611;stSG601612;stSG601613;stSG601614;stSG601615;stSG601616;stSG601617;stSG601618;stSG601619;stSG601621 AF5Q31;MCEF;MGC75036 AF4/FMR2 family member 4;ALL1 fused gene from 5q31;ALL1-fused gene from chromosome 5q31 protein;OTTHUMP00000066209;major CDK9 elongation factor-associated protein APPROVED protein-coding ENSG00000072364 17869 09187 604417 REVIEWED 5132512 AGAP1-IT1 AGAP1 intronic transcript 1 (non-protein coding) 2 q37.2 236414395 236416210 + 100506749 ABBA01042561;AC012305;AMYH01011589;BX111890;XR_108380;XR_133330;XR_171354 Hs.684184 miscrna 41427 MODEL 1606470 AFMID arylformamidase 17 17 17 q25.3 72779839 72799987 + 73695038 73715377 + 76183398 76203782 + 6480464;6907045 19322201;14704851;12477932;21048031 125061 K7EIX3;K7EK09;K7ELV9;K7EMI4;K7EMM5;K7EPF8;K7EQK5;Q63HM1 ABBA01002939;ABBA01002940;ABBA01002941;AC087645;AMYH01008664;BC020920;BC132824;BC142973;BX648442;CH471099;NM_001010982;NM_001145526;NR_027083 AAI32825;AAI42974;ACE86948;ACE87637;ADR82911;CAH56149;EAW89509;EAW89510;NP_001010982;NP_001138998;Q63HM1 Hs.558614 1741169;1791804;5022200;5037552 D8S2279;GDB:178395;L18426;PMC126057P2 DKFZp686F03259;FKF;KF;KFA;MGC167063 KFase;N-formylkynurenine formamidase;OTTHUMP00000204722;OTTHUMP00000204725;kynurenine formamidase;probable arylformamidase protein-coding ENSG00000183077 20910 16478 VALIDATED 1352528 AFM afamin This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008] 4 4 q13.3 74566326 74588582 + 74347462 74369718 + 1580863;6480464 7517938;19046407;16740002;16335952;16199891;15952736;15489334;14760718;12477932;12463752;12063119;10400926;8755513;8648639;7875606;7035619;4041902;37276;19336561;20858448 173 P43652 ABBA01022992;AC108157;AC110752;AK290556;AMYH01014301;BC109020;BC109021;CH471057;L35486;L35497;L35498;NM_001133;U51243 AAA68197;AAA68198;AAA68199;AAC50720;AAI09021;AAI09022;AAY41051;BAF83245;EAX05682;NP_001124;P43652 Hs.168718 1340356;1678827;1794040;2142699;2163556 D4S1517;PMC310762P7;RH94242;SHGC-59867;STS-L32140 ALB2;ALBA;ALF;MGC125338;MGC125339 OTTHUMP00000160471;afamin;alpha-Alb;alpha-albumin APPROVED protein-coding ENSG00000079557 316 00073 104145 REVIEWED 1349982 AGAP10 ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 10 10 q11.22 46611745 46635270 - 47191765 47213514 - 728127 C9JUY9;H7BY03;Q5T2P9 AC244230;AL391137;XM_001714786;XM_003846493 CAI12206;Q5T2P9;XP_001714838;XP_003846541 5111612;5113574;5124150 RH36848;RH40305;RH44360 CTGLF7;bA144G6.2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 10;OTTHUMP00000019523;centaurin, gamma-like family, member 7 protein-coding ENSG00000204172 23462 MODEL 1606558 AFTPH aftiphilin 2 2 2 p14 64597630 64666332 + 64604969 64673643 + 64751439 64820139 + 6480464 14665628;15758025;18815278;16964243;15811338;15489334;15302935;14702039;12477932;8889548;8125298;16344560;18029348;22990118;21900206 54812 B8ZZI9;Q53GW0;Q6ULP2 AA583062;AB073356;ABBA01075420;ABBA01075421;ABBA01075422;AC008074;AK000087;AK021899;AK024658;AK222821;AL833962;AMYH01010401;AY367088;BC022247;BC047529;BM668634;BX504505;CH471053;DA227019;DA815479;NM_001002243;NM_017657;NM_203437 AAH22247;AAH47529;AAR14726;BAA90936;BAB13930;BAB14949;BAD96541;BAE45715;CAE46209;EAW99937;EAW99938;EAW99939;EAW99940;EAW99941;NP_001002243;NP_060127;NP_982261;Q6ULP2 Hs.655167 1661358;1755355;1777096;1853950 A002Y40;A007I10;SHGC-142239;STS-AA034034 FLJ20080;FLJ23793;MGC33965;Nbla10388 OTTHUMP00000159936;OTTHUMP00000202186;OTTHUMP00000202187;aftiphilin;aftiphilin protein;putative protein product of Nbla10388 protein-coding ENSG00000119844 25951 10635 VALIDATED 736278 AFP alpha-fetoprotein This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Jul 2008] 4 4 q13.3 74520797 74540356 + 74301933 74321492 + 1300268;1580863;2292039;2292042;2292040;2292037;2292041;2292038;6480464;6484113 12297623;17659325;1714107;17525908;18203521;68943;17932343 20149523;19383238;19362088;19343004;19241193;19225928;19206006;19160651;19038010;19003875;18802946;18657899;18609108;18577995;18563566;18551609;18485897;18479159;18466288;18354237;18422961;18316609;18407604;18194454;17852813;17535089;17465484;17433605;17275497;17237442;17197899;17188819;17175354;17175353;16892178;16882993;16869888;16627685;16203738;15993394;15906357;15849812;15489334;15305374;15280901;15265907;15040024;15028291;15001643;14714299;14622304;12835590;12804197;12615827;12503217;12499776;12477932;12361680;12176010;12167706;12006569;11861398;11788893;11764100;9891062;7684942;7532927;7524678;7519015;6193792;6192711;6192439;6187626;6085063;4138095;2580830;2474300;2445387;2436661;2414772;1709810;1703124;1371512;89900;80265;71198;70228;16169070;22391642;22672818;20363333;20495646;17626741;18184471;19093203;19184104;19197197;19426602;19437037;19457604;19494365;19501957;19574883;19615732;19785658;19968979;20070666;20101856;20414942;19593583;21083802;20796153;20740583;20532728;21169258;21235824;23342486;22362471;22561245;21438004;21083609;21155886;21312197;21592114;23020232;21170957;22535689;22559879;22152641;21059290;21965270;21301972;20571936;21745284;22294840;22471500;21411977;21365646;22524824;22147961;21793906;22116493;22252180;22469729;22150277;22472323;21952001;22935208;23282286;23300138;23322323;23395581;21988832;23169148;22521346;23038230;22366528;22233759;22709874 174 J3KMX3;P02771 ABBA01022991;AC108157;AK297669;AK297674;AK314817;AMYH01014300;BC027881;CH471057;M10949;M10950;M16110;NG_023028;NM_001134;V01514;Z19532 AAA51674;AAA51675;AAB58754;AAH27881;ABM81868;ABM85029;BAG37340;BAG60031;BAG60036;CAA24758;CAA79592;EAX05681;NP_001125;P02771 Hs.518808 1666324;1760057;1772963;2119459;2126442;2189369;5491493 D4S3144;MARC_15793-15794:1013620256:1;MARC_3052-3053:991936680:1;SHGC-107546;SHGC-50928;SHGC-59540;SHGC-67270 FETA;HPAFP OTTHUMP00000160480;OTTHUMP00000220440;alpha-1-fetoprotein;alpha-fetoglobulin;alpha-fetoprotein APPROVED protein-coding ENSG00000081051 317 00074 104150 REVIEWED 2301267 AGAP11 ankyrin repeat and GTPase domain Arf GTPase activating protein 11 10 10 10 q23.2 82733499 82772961 + 88720478 88759940 + 88730498 88769960 + 14702039;12477932;11853319;16751776 119385 Q6P5Q0;Q8TF27 AB075855;ABBA01033689;AK097165;AL136982;AMYH01002903;BC062776;BC140762;CH471142;NM_133447 AAH62776;AAI40763;BAB85561;EAW80307;EAW80308;EAW80310;EAW80311;NP_597704;Q8TF27 Hs.511787 1681195;1778252;2184780;5111612;5113574;5124150 RH36848;RH40305;RH44360;RH44865;RH68273;RH93785 KIAA1975 AGAP-11;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 11 protein-coding 29421 VALIDATED 1319477 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 2 2 2 q37 230115921 230747258 + 236067475 236698866 + 236402733 237040444 + 1580863;6480464;6907045 16341674;18003747;22453919;16079295;15892143;15381706;14702039;12967569;12640130;12477932;12388557;10470851;16751776;21832049;21900206;21926974;22688191 116987 B2RZG9;C9J8Z2;E7EUN2;F5GXM9;H7C0A7;H7C211;H7C3T5;Q9UPQ3 AB029022;ABBA01042565;ABBA01042566;ABBA01042567;ABBA01042568;ABBA01042569;AC012305;AC019047;AC064874;AC073989;AC079400;AF413078;AK001722;AK295520;AK300763;AMYH01011589;AMYH01011590;AMYH01011591;AMYH01011592;AMYH01011593;AMYH01011594;AY033765;BC060814;BC140856;BC167153;BC167157;BI868924;BM752978;CA446024;CB961699;CH471063;NG_030314;NM_001037131;NM_001244888;NM_014914 AAH60814;AAI40857;AAI67153;AAI67157;AAK56506;AAL04172;AAX88852;AAX88857;AAY14697;AAY24137;BAA83051;BAA91862;BAG58435;BAG62428;EAW71078;EAW71079;NP_001032208;NP_001231817;NP_055729;Q9UPQ3 Hs.435039 1335150;1335418;1659393;1665186;1667599;1668592;1681424;1689336;1697674;1706910;1714021;1717455;1721567;1727871;1757111;1762171;1762275;1765605;1771063;1783872;1784066;1784130;1784222;2117866;2156836;2166680;5093548;5094212;5127221 A009Q29;D2S1397;D2S1421;D2S2202;FB3D10;G32783;G33173;G54615;G59791;G63736;RH102352;RH119441;RH122231;RH12556;RH44862;RH48088;RH91277;SHGC-102168;SHGC-144496;SHGC-146059;SHGC-146098;SHGC-146130;SHGC-149056;SHGC-154430;SHGC-155949;SHGC-31743;SHGC-80943;STS-T94735;WI-22093 AGAP-1;CENTG2;GGAP1;KIAA1099;MGC71657;cnt-g2 AGAP-1;Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 1;GTP-binding and GTPase-activating protein 1;OTTHUMP00000164398;OTTHUMP00000164399;OTTHUMP00000203179;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1;centaurin, gamma 2;centaurin-gamma-2;cnt-g2 APPROVED protein-coding ENSG00000157985 16922 16359 608651 REVIEWED 1344826 AGAP4 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 10 10 10 q11.22 42769421 42786619 - 45641056 45662927 - 46321050 46342921 - 737633;6480464 12477932 22990118 119016 K7ER91;Q96P64 AC012044;AF411132;AMYH01002311;AMYH01002312;AMYH01002313;AMYH01002314;AMYH01002315;BC048341;BC062366;BC171833;CH471160;NM_133446 AAH48341;AAL10290;EAW86657;EAW86658;EAW86659;EAW86660;EAW86661;EAW86662;EAW86663;EAW86664;NP_597703;Q96P64 Hs.656384 5111612;5113574;5124150 RH36848;RH40305;RH44360 CTGLF1;MRIP2 AGAP-4;ARF GTPase-activating protein;OTTHUMP00000019508;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4;centaurin, gamma-like family, member 1;centaurin-gamma-like family member 1 protein-coding ENSG00000188234 23459 16771 PROVISIONAL 1320096 AGA aspartylglucosaminidase Aspartylglucosaminidase is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. The lysosomal storage disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jan 2010] 4 4 q34.3 178588918 178600585 - 178351928 178363657 - 1598773;1580863;6480464;7240710 1703489 1737774;2775174;2401370;19100247;18992224;16435229;15815621;15489334;15365992;14616088;12477932;11309371;10444340;9737998;9362483;9137882;8846222;8830180;8776587;8702913;8457202;8405810;8002961;7852406;7685790;6883788;2265705;2039475;2011603;1904874;1864600;1840528;1765378;1733831;1530592;1301945;1281977;15174051;16344560;8889548;18029348;21854356 175 H0Y8L9;H0Y9C7;P20933 AA490958;ABBA01070426;AC027627;AC078881;AK303370;AK312982;AMYH01014739;AW467768;BC012392;BM968469;CH471056;CR541715;CX869892;DA346002;DA905583;M60808;M60809;M64073;M64075;M64076;M83247;NG_011845;NM_000027;NM_001171988;NR_033655;S83096;U21273;U21274;U21275;U21276;U21277;U21278;U21279;U21280;U21281;X55762;X61959;X73071 AAA35901;AAA35902;AAA35903;AAA35904;AAA35905;AAA36215;AAB60655;AAD14424;AAH12392;AAY40915;ABM82279;ABM85460;BAG35819;BAG64427;CAA39288;CAA43958;CAA51529;CAG46516;EAX04712;EAX04713;EAX04714;EAX04715;NP_000018;NP_001165459;P20933 Hs.207776 1670048;1745417;1745425;1745427;1745429;1745433;1745435;1745437;2122105;5016570;5117805 D4S3226;GDB:607621;GDB:607635;GDB:607636;GDB:607637;GDB:607638;GDB:607643;GDB:607646;GDB:607647;GDB:607648;STS-X55330 AGU;ASRG;GA N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase;N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase;OTTHUMP00000218812;aspartylglucosylamine deaspartylase;glycosylasparaginase APPROVED protein-coding ENSG00000038002 318 01949 208400;613228 REVIEWED 7244932 AGAP2-AS1 AGAP2 antisense RNA 1 11181995;12477932;15146197 100130776 ABBA01026694;AC025165;AK301303;AMYH01004524;BC019026;BC039697;BC069024;CH471054;CN313469;NG_029755;NR_027032 BAH13454;EAW97052;EAW97053 Hs.656080 1645478;2168223 RH25384;STS-AA011041 miscrna ENSG00000255737 48633 VALIDATED 1353426 AGAP7 ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 10 10 q11.23 51134168 51156333 - 51464162 51486327 - 6480464 653268 Q5VUJ5 ABBA01050038;ABBA01050039;ABBA01050040;ABBA01050041;ABBA01050042;AL589822;AMYH01002691;AMYH01002692;NM_001077685;XM_003960859 NP_001071153;Q5VUJ5;XP_003960908 Hs.528346 5111612;5113574 RH36848;RH44360 AGAP-7;CTGLF4;bA109G10.1 AGAP-7;OTTHUMP00000019595;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7;centaurin, gamma-like family, member 4;centaurin-gamma-like family member 4 protein-coding ENSG00000204169 23465 PROVISIONAL 1321839 AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 7 7 7 q36.1 145341154 145398859 + 150414759 150472456 + 150783826 150841523 + 1580863;6480464 16964243;16461359;15381706;14702039;14506264;12690205;12640130;12477932;21139048;21890473;21906983;16344560 116988 B3KNZ8;C9J975;E7ESL9;E9PAL8;H0Y873;H7C4F1;H7C4U6;H7C5G0;Q86XV5;Q96P47 AACC02000108;AB209781;ABBA01035163;ABBA01035164;ABBA01035165;AC010973;AF359283;AF413079;AK027415;AK055393;AK091771;AK096352;AL442089;AMYH01018143;AMYH01018144;BC020426;BC037543;BC044644;BC048300;BC069236;BU615528;CH471173;DA771207;NM_001042535;NM_001281300;NM_031946 AAH44644;AAH48300;AAK48932;AAL04173;ACE86452;ACE87128;BAB55097;BAC04766;BAD93018;BAG51510;CAC09448;EAL24502;EAW54024;EAW54025;EAW54026;EAW54027;EAW54028;EAW54029;NP_001036000;NP_001268229;NP_114152;Q96P47 Hs.647075 1666204;1852490;2145843;2191003 AF021133;GDB:4585228;MARC_12833-12834:1000491720:1;RH66056 AGAP-3;CENTG3;CRAG;FLJ16146;FLJ34452;MRIP-1;cnt-g3 AGAP-3;CRAM-associated GTPase;CRMP (collapsin response mediator protein) associated;MR1-interacting protein;OTTHUMP00000213333;OTTHUMP00000213334;OTTHUMP00000213335;OTTHUMP00000213336;OTTHUMP00000213337;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3;centaurin, gamma 3;centaurin-gamma-3;cnt-g3 protein-coding ENSG00000133612 16923 16707 VALIDATED 7244440 AGBL1-AS1 AGBL1 antisense RNA 1 15 q25.3 86840064 86860199 - 22961001;23400010 727915 ABBA01052977;AC025842;AMYH01006899;CD359326;DB459014;DB524499;NR_046012 Hs.451281 miscrna ENSG00000260125 48617 VALIDATED 1349110 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase. It is overexpressed in cancer cells, and promotes cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 12 12 q14.1 56405261 56422207 - 58118076 58135944 - 1580863;6480464;6907045 16344560;11136977;22389719;19318351;19176382;18487454;18469807;18374643;18371979;17461797;17297440;17151107;17037982;16841086;16263930;16150119;16079295;15951849;15489334;15118108;14761976;14702039;14528310;12640130;12477932;12388557;11823862;9192850;8724849;17891137;21833088;18029348;20551179;23527545;21460185;21847098;23438599;20368287;22349826;22505724 116986 F8VVT9;H0YHB1;J3KNM6;Q99490 ABBA01026694;AC025165;AF384128;AF413077;AK122827;AK292672;AMYH01004524;AV740795;AY128689;BC028020;BE280072;BI755875;CH471054;D79989;DB165417;NG_029755;NM_001122772;NM_014770;U81031 AAC39522;AAH28020;AAL04171;AAM97540;AAO39848;BAA11484;BAF85361;BAG53747;EAW97048;EAW97049;EAW97050;EAW97051;NP_001116244;NP_055585;Q99490 Hs.302435 1645478 RH25384 CENTG1;FLJ16430;GGAP2;KIAA0167;PIKE AGAP-2;Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 2;GTP-binding and GTPase activating protein 2;GTP-binding and GTPase-activating protein 2;OTTHUMP00000243437;OTTHUMP00000243438;OTTHUMP00000243439;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2;centaurin, gamma 1;centaurin-gamma-1;cnt-g1;phosphatidylinositol 3-kinase enhancer;phosphatidylinositol-3-kinase enhancer;phosphoinositide 3-kinase enhancer APPROVED protein-coding ENSG00000135439 16921 05687 605476 REVIEWED 1349976 AGAP6 ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 10 10 q11.23 51418356 51440263 + 51748078 51770259 + 12477932 414189 Q5VW22 AL442003;AMYH01002707;BC131545;NM_001077665 NP_001071133;Q5VW22 Hs.536158 5111612 RH36848 CTGLF3;bA324H6.1 AGAP-6;OTTHUMP00000019605;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6;centaurin, gamma-like family, member 3;centaurin-gamma-like family member 3 protein-coding ENSG00000204149 23466 VALIDATED 1348213 AGAP5 ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 10 10 10 q22.2 68735106 68740871 - 75104037 75138147 - 75434033 75457554 - 12477932 729092 A6NIR3;J3KQL4 AC022400;AC073389;AMYH01002828;NM_001144000 A6NIR3;NP_001137472 Hs.651147 5111612;5113574;5124150 RH36848;RH40305;RH44360 CTGLF2 AGAP-5;OTTHUMP00000019826;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5;centaurin, gamma-like family, member 2;centaurin-gamma-like family member 2 protein-coding ENSG00000172650 23467 VALIDATED 6481033 AGBL4-IT1 AGBL4 intronic transcript 1 (non-protein coding) 100874313 AL356916;AL445527 miscrna 41482 1344869 AGAP8 ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 10 10 10 q11.23 42172068 42193907 + 50894694 50916541 - 51224688 51246535 - 12477932 728404 M0QZR1;Q5SRD3;R4GNB7 AL672187;AMYH01002610;AMYH01002611;AMYH01002612;NM_001077686;NM_001276343;NM_001276344 NP_001071154;NP_001263272;NP_001263273;Q5SRD3 1689109;1766243;1780476;5111612;5113574 RH36848;RH44360;RH68500;SHGC-149602;stbA746L15SP6 CTGLF5 AGAP-8;OTTHUMP00000019593;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 8;centaurin, gamma-like family, member 5;centaurin-gamma-like family member 5 protein-coding ENSG00000174194 23464 VALIDATED 6481376 AGBL5-AS1 AGBL5 antisense RNA 1 100874031 AC013472 APPROVED miscrna 41133 1348214 AGAP9 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 10 10 q11.22 47834092 47857619 + 48215724 48237508 + 14702039;12477932 642517 Q5VTM2 AK096908;AK160375;AL591684;AMYH01002428;BC020871;BC032492;BC171845;BC171847;NM_001190810 BAD18718;NP_001177739;Q5VTM2 Hs.645346;Hs.742298 5015881;5016478;5022651;5096328;5109663;5111612;5113574;5124150 D11S2921;D7S2067E;GDB:335751;GDB:434012;RH36848;RH40305;RH44360;WI-15534 AGAP-9;CTGLF6;FLJ00312;bA301J7.2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9;OTTHUMP00000019531;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9;centaurin, gamma-like family, member 6;centaurin-gamma-like family member 6 protein-coding ENSG00000198035 23463 VALIDATED 1345768 AGBL1 ATP/GTP binding protein-like 1 15 15 15 q25.3 63086740 63973544 + 84486246 85373287 + 86685242 87572283 + 18347602;16543943;16344560;14702039;12477932;20379614;21448238;21993531;22041458;22703881;22961001;23400010 123624 J3KQF5;J3QSZ9;Q96MI9 ABBA01052977;ABBA01052978;ABBA01052979;ABBA01052980;ABBA01052981;ABBA01052982;ABBA01052983;ABBA01052984;ABBA01052985;ABBA01052986;ABBA01052987;AC012229;AC016180;AC016987;AC018950;AC022817;AC025842;AC069197;AC078905;AC107978;AK056872;AMYH01006898;AMYH01006899;AMYH01006900;BC128152;CH471101;DA695799;DV080155;DV080218;DV080486;DV080541;DY655391;DY655510;NM_152336 AAI28153;BAB71299;EAX01983;EAX01984;NP_689549;Q96MI9 Hs.679833 1341978;1674236;1704914;1705318;1714461;1715297;1719915;1721161;1724865;1727407;1727763;1750339;1754855;1759159;1760081;1760593;1761951;1762181;1764397;1766451;1775176;1783308 D15S1030;D15S915;G59416;G63111;G63147;RH119196;RH119741;RH120479;RH124056;SHGC-107733;SHGC-112520;SHGC-141776;SHGC-144144;SHGC-145887;SHGC-146066;SHGC-147986;SHGC-149781;SHGC-150912;SHGC-79777;SHGC-79934;SHGC-83037;WI-18649 FLJ32310;MGC149239 ATP/GTP-binding protein-like 1;OTTHUMP00000195714;cytosolic carboxypeptidase 4 protein-coding ENSG00000166748 26504 07115 VALIDATED 1606202 AGBL4 ATP/GTP binding protein-like 4 1 1 1 p33 47284584 48775481 - 48825047 49283906 - 48998527 50489626 - 6480464 19240061;16710414;14702039;12477932;20379614 84871 B1AMW3;B1ANV5;B4DGK1;H0Y5X4;Q5VU57 ABBA01050789;ABBA01050790;ABBA01050791;ABBA01050792;ABBA01050793;ABBA01050794;ABBA01050795;ABBA01050796;ABBA01050797;ABBA01050798;ABBA01050799;ABBA01050800;AC092264;AC097062;AC099788;AC105766;AF075049;AK027348;AK094826;AK294394;AK294633;AK296221;AL031294;AL355809;AL356789;AL356916;AL390023;AL391844;AL445527;AL590432;AL591602;AL645507;AL645730;AMYH01000600;AMYH01000601;AMYH01000602;AMYH01000603;BC035739;BC126383;BC144171;CH471059;NM_032785 AAI26384;BAB55053;BAG52938;BAG57648;BAG57812;BAG58944;EAX06847;NP_116174;Q5VU57 Hs.551844;Hs.679809 1337883;1644337;1649885;1654341;1659343;1659808;1666755;1674410;1675107;1686464;1691978;1692240;1692252;1706908;1707028;1708040;1710086;1711110;1714185;1714499;1717323;1718747;1720091;1722189;1724473;1724773;1732818;1732880;1752693;1763379;1770232;1781452;1781652;1781780;1781790;1852293;1853532;2114884;2116701;2118139;2127932;2129843;2145266;2158958;2167134;2168145;2176657;2179783;2180154;2184451;5094312 AFM277XE1;AL009298;AL009543;AL009766;AL009768;AL009808;AL009844;AL009863;AL009928;AL009936;AL009952;AL010030;AL010111;AL033641;AL033781;AL033788;D1S1265;D1S1302;D1S1564;D1S2461;D1S2724;D1S3170;D1S3337;G19122;G54704;G60147;GCT16E08;RH119702;RH119761;RH122152;RH122402;RH122593;RH123062;RH123787;SHGC-106535;SHGC-112093;SHGC-147100;SHGC-154769;SHGC-155734;SHGC-156017;SHGC-31094;SHGC-67363;SHGC-74764;SHGC-74765;SHGC-80942;SHGC-81023;SHGC-81389;SHGC-83708;SHGC-86199;WI-11210;WI-15130 CCP6;FLJ14442 ATP/GTP-binding protein-like 4;OTTHUMP00000009460;OTTHUMP00000009778;cytosolic carboxypeptidase 6 protein-coding ENSG00000186094 25892 07487 VALIDATED 1605057 AGBL5 ATP/GTP binding protein-like 5 2 2 2 p23.3 27120838 27139834 + 27127995 27146994 + 27274491 27293490 + 6480464 16344560;14702039;12477932;11256614;16712791;19913121;20628086;20467438 60509 C9JCE1;C9JHM6;C9JQG9;C9JTY1;H7C1L5;Q9H6V0 ABBA01045192;AC013403;AC013472;AI990522;AK023398;AK025492;AK302091;AL833844;AMYH01010194;BC007415;BC018562;BC018584;BC062326;BC131498;CB155754;CH471053;DA901318;NM_001035507;NM_021831 AAH07415;AAI31499;AAX93164;AAY14655;BAB14560;BAB15151;BAH13623;CAD38704;EAX00649;EAX00650;EAX00651;EAX00652;EAX00653;NP_001030584;NP_068603;Q8NDL9 Hs.138207 1679487;2129913;2191009;2191449 MARC_12887-12888:999876636:1;MARC_23457-23458:1027109061:1;RH69213;RH80719 FLJ21839 ATP/GTP-binding protein-like 5;OTTHUMP00000192904;OTTHUMP00000194458;OTTHUMP00000228571;cytosolic carboxypeptidase-like protein 5 protein-coding ENSG00000084693 26147 07968 VALIDATED 1604170 AGBL3 ATP/GTP binding protein-like 3 7 7 7 q33 129408666 129558005 + 134321802 134386337 + 134671259 134820530 + 6480464 22610502;15489334;14702039;12853948;12477932;20379614;17244817;21784300 340351 C9JL97;F8W6Y5;F8W7R4;J3KQE2;Q8NEM8 AA707617;AACC02000025;ABBA01001112;ABBA01001113;AC083862;AC083870;AC090497;AK021841;AK023045;AK302827;AL832281;AMYH01017954;AMYH01017955;BC030651;CH236950;CH471070;NM_178563 AAH30651;BAB14371;BAH13813;EAW83837;EAW83838;NP_848658;Q8NEM8 Hs.648616 1663519;1677836;1687381;1853986;2107551;2148294;2175962;2176968;5022578;5024039 C031ZC1;D16S325;D1S1423;GDB:1317936;RH92031;RH99244;RNF14_797.2;SGC38374;WI-10741;WI-15609 FLJ12983;MGC32955 ATP/GTP-binding protein-like 3;OTTHUMP00000208040;OTTHUMP00000225513;cytosolic carboxypeptidase 3 protein-coding ENSG00000146856 27981 14175 PROVISIONAL 3476565 AGGF1P2 angiogenic factor with G patch and FHA domains 1 pseudogene 2 10 10 q26.3 135305480 135306488 + 135455591 135456399 + 644435 AL731696;AMYH01003243;NG_005569 1731663;2130080 D11S4416;D4S1620 pseudo 38052 INFERRED 1602682 AGBL2 ATP/GTP binding protein-like 2 11 11 11 p11.2 47828422 47883671 - 47637719 47692878 - 47681143 47736928 - 6480464 15489334;14702039;12738998;12477932;8125298;20308539;18029348;21303978 79841 E9PI49;E9PJH3;E9PR59;E9PRJ1;E9PS54;F6U0I4;H9KV53;J9JIH1;Q5U5Z8 ABBA01060693;ABBA01060694;ABBA01060695;ABBA01060696;ABBA01060697;AC021443;AK027251;AK056687;AK223171;AK223176;AK303066;AK303875;AMYH01003547;AMYH01003548;AMYH01003549;BC028200;BC036234;CH471064;NM_024783 AAH28200;AAH36234;BAB15707;BAD96891;BAD96896;BAG64183;BAG64813;EAW67889;EAW67890;EAW67891;NP_079059;Q5U5Z8 Hs.147377 1655519;1677989;1716915 RH121749;RH48286;RH99144 FLJ23598 ATP/GTP-binding protein-like 2;OTTHUMP00000229536;OTTHUMP00000229537;cytosolic carboxypeptidase 2 protein-coding ENSG00000165923 26296 08039 VALIDATED 3398757 AGGF1P1 angiogenic factor with G patch and FHA domains 1 pseudogene 1 4 4 q35.2 191199067 191201563 + 190962139 190965441 + 100132380 ABBA01158165;AF146191;AMYH01014803;NG_022094;U85056 1731663;2130080 D11S4416;D4S1620 pseudo 38051 INFERRED 3302159 AGGF1P4 angiogenic factor with G patch and FHA domains 1 pseudogene 4 16 16 16 p11.1 67008523 67009364 - 34481072 34484622 - 34623574 34624415 - 100129351 ABBA01002115;AC007353;AMYH01007635;NG_022503 pseudo 38054 INFERRED 2881504 AGGF1P3 angiogenic factor with G patch and FHA domains 1 pseudogene 3 3 3 3 p12.3 76446336 76448467 - 75785273 75787853 - 75702601 75704732 - 391552 ABBA01030989;AC108724;AMYH01013292;NG_022208 pseudo 38053 INFERRED 1350142 AGGF1 angiogenic factor with G patch and FHA domains 1 This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010] 5 5 q13.3 76361988 76396794 + 76326210 76361059 + 737633;6480464 12477932 14961121;15486042;15905966;18564129;17103452;16911369;16443853;16189514;15489334;14702039;10737800;17332742;19556247;19615732;20360068;21576349;22990118 55109 H0Y8F8;Q8N302 ABBA01061975;ABBA01061976;AC008581;AI453097;AK001145;AK097255;AK289394;AMYH01015424;AMYH01015425;AW500409;AW958325;AY500994;AY500996;BC002828;BC015478;BC029382;BC032844;BC073864;BE077189;BI561566;BM998072;BX648120;CF994178;CH471084;DR157679;NG_027822;NM_018046;U84971 AAB60856;AAH02828;AAH15478;AAH29382;AAH32844;AAR97615;AAR97617;ADZ15761;BAA91519;BAF82083;EAW95787;EAW95788;EAW95789;NP_060516;Q8N302 Hs.634849 1657662;1669444;1678735;1722591;1744337;2110031;2174490;2176741 G31520;G60377;GDB:451724;HSC2RB032;RH103381;RH18441;SHGC-58119;VG5Q_9874 FLJ10283;GPATC7;GPATCH7;HSU84971;HUS84971;VG5Q;hVG5Q G patch domain-containing protein 7;OTTHUMP00000128327;angiogenic factor VG5Q;angiogenic factor with G patch and FHA domains 1;vasculogenesis gene on 5q protein APPROVED protein-coding ENSG00000164252 24684 07621 608464 REVIEWED 2794508 AGKP1 acylglycerol kinase pseudogene 1 Y Y Y q11.21 3736898 3739138 + 15260247 15262687 + 16750954 16753194 + 12815422;9847074 359793 ABBA01056972;AC010979;NG_002810;NG_028212 AGKY1 pseudo 37661 INFERRED 737312 AGER advanced glycosylation end product-specific receptor The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011] 6 6 p21.3 32256724 32260001 - 32148745 32152099 - 1566451;1625335;1625342;1625346;1625338;1625343;1625348;1625333;1625341;1331525;1300365;1625339;1300270;1580863;2325651;2325657;2325643;2325645;2325647;2325653;6480464;6767555;6767560;6767556;6767569;6784516;6767307;6784515;6767309;6767557;6767564;6767561;6767566;6767308;5508825;6767562;6767312;6767553;6767554;6767563;6784499;6784514;6784502;6767559;6767315;7245558;7244260;7243964;7244266;7244187;7244369;7244174;7245963;7244279;7245487;7243852;7243867;7245533;7244142;7245542;7243186;7244134;7244141;7245947;7243940;7244135;7242570;7244287;7243185;7244145;7244175;7243868;7243937;7244283;7243851;7244158;7244162;7244164;7243249;7244254;7244255;7245945;7245965;7243248;7243187;7243944;7244176;7245514;7245948;7245957;7243938;7243958;7243949;7243956;7243959;7244245;7244248;7244183;7244186;7245559;7243247;7243251;7244188;7245557;7245562;7243250;7207785;7245961;7244258;7245538;7243184;7244181;7244184;7244246;7244385;7245513;7245955;7244139;7244262;7245515 12606536;16283249;16505177;12874465;17374970;16456142;12618340;16728681;16757496;15118671;8751438;17343756;12808450;19142024;18420491;20398646;20195207;19910580;19018797;21941211;21652096;21939913;20668462;20835270;22698798;21418204;22513366;21906738;21347371;21542009;21270403;22578261;21663912;21511691;20133931;21993476;21920897;21450080;22795565;22552116;22745485;21629785;22146151;22476978;23497312;20801062;23396166;21533139;23146804;23091285;21680901;23304218;22924807;21856399;21822023;22669512;20353610;22528836;23396398;20685687;20541603;22038096;21643645;20627935;20185929;23164356;23593165;20056977;19542745;21811803;21738623;23251674;22698914;20040351;19759273;20606421;22828946;23576805;23529380;22093994;21593432;12651605;23369670;21607631;22475522;22883037;22036861;21802905;21412218;21432860;23677242;21470837;21099228;19735169;23587252;21870072;21704028;22467055;23046363;15666359;21458563;22491548;22305260;22761461;23069071;21683770;21041689;22644855;23630304;21947243;21796806;23698784;23002359;22915134;21813211;20554645;23403079;15539404 22509345;19587357;19501570;19448391;19440065;19380826;19380603;19332646;19285601;19284577;19277685;19275767;19252206;19217891;19217461;19204726;19183936;19167759;19143821;19143681;19103440;19071026;19061941;19032093;19005067;18987644;18977241;18952609;18948101;18926539;18922799;18854308;18825489;18796298;18789567;18777492;18775683;18701333;18698218;18689872;18667420;18660489;18657529;18645306;18615900;18606705;18603587;18595673;18593464;18576917;18575614;18550199;18519797;18480271;18477569;18458846;18438937;18431028;18427074;18421017;18355449;18339893;18322992;18302220;18279705;18279703;18256374;18245812;18231794;18179750;18089847;18080716;18079965;18079485;18078623;18058469;18050248;18046662;18032526;17924846;17714874;17700210;17661837;17660747;17640970;17639302;17613396;17601350;17593216;14580673;14574404;14571699;14501001;12941744;12935895;12909002;12859967;12837757;12671312;12651613;12598893;12579287;12495433;12477932;12477623;12475402;12070776;12029499;11961018;11884895;11811511;11739380;17592553;11700025;11375354;16061848;17474147;1378843;10835680;10399917;17560613;17549666;17536039;17512509;17508727;17497647;17434489;17425804;17405935;17355942;17345061;17343760;17237617;17224333;17218539;17172923;17170388;17158877;17035340;17024691;17004092;16969649;16969646;16954682;16954185;16899960;16847147;16644647;16493495;16440015;16374460;16286548;16271939;16166741;16159602;16127291;16052547;16037279;15986224;15944249;15942086;15942078;15930093;15926115;15915542;15911356;15896660;15893388;15803111;15798956;15790669;15663911;15599399;15555779;15547674;15489334;15448098;15289604;15247020;15239215;15213278;15203887;15180953;15170618;15155381;15127201;15053925;15052533;15033494;15019601;15009731;14747204;17588956;14704946;14656967;14617629;14595542;22509024;22382005;11007787;10521570;9812979;9734395;9195959;8787669;7887450;7835890;7713518;20650982;21540233;21137019;8889548;20414834;20504772;20507991;20512925;19376511;21325454;20684319;21254849;21472688;22354095;10391939;16716307;19129693;19133252;19386136;19439163;19451748;19530996;19571577;19576587;19578796;19591173;19616266;19635564;19659809;19672558;19679874;19766904;19786934;19815443;19820033;19822091;19851445;19876719;19890027;19906677;19909734;19944695;19945761;19948975;19998499;20010834;20010835;20028726;20031245;20051912;20112183;20171262;19405075;20028692;20578941;20630999;20372816;20410680;19088375;19201044;20215707;21067489;20627100;21086782;19913121;20359471;20485444;20522598;20567859;20568058;20628086;20726326;20739563;20928981;20492604;20943659;20631986;20537326;20074734;10531386;20359119;21208063;21282351;21365018;21298413;21089112;21357189;20847094;21197704;20701913;20947022;21072897;21127710;20595148;22983919;22315985;22337892;22633675;22652038;21832049;22339587;22460069;22417726;21311028;21617715;20685137;21080832;11282423;11334430;11457670;11586486;15666591;15748606;16305072;16788244;19023628;19248116;19834494;19902324;19924100;20023238;20093728;20732329;20817881;21067572;21303685;21316677;19087540;21472666;21257730;21278261;21565706;21844192;21389696;21511948;21609778;21965014;22837190;22900949;22964273;21297263;21317562;21527578;21211520;21254649;22490537;22965881;22920235;21512281;21829704;22211895;21771973;21945853;21115116;21865159;21990362;21126167;21749686;21872861;21914366;21978883;22025532;22206663;21576827;21767223;22072229;22116960;23236395;22012330;22154374;22402134;21521347;22114731;22137663;22194616;22264245;22366088;22405771;21871056;22553402;21724696;21736957;21861709;21947881;22027013;22229442;22353366;22386596;22427038;23206470;22835520;23144152;23275625;23426492;23071492;21706016;22771726;22785051;22860017;22860029;23288172;22960399;23421467;21450369;22863784;22987041;23284291;10601334;22843047;22777515;23284645;22097731;23628898;23103427;22189627 177 A7Y2U9;A8MS87;B0V177;B0V178;B0V179;B0V180;B4DNX3;B5A982;C0IP14;Q3L1R2;Q3L1R4;Q3L1R5;Q3L1R6;Q3L1R8;Q3L1S0;Q5SSZ2;Q5SSZ3;Q9Y3R3 AB036432;AB061668;AB061669;ABBA01038108;AF001095;AF065211;AF065212;AF208289;AF536236;AF536237;AF537303;AJ133822;AJ238896;AK298100;AK313178;AL662830;AL662884;AL845464;AMYH01016234;AY755619;AY755620;AY755621;AY755622;AY755623;AY755624;AY755625;AY755626;AY755627;AY755628;BC020669;BM971899;BX284686;BX927239;CH471081;CR812478;CR933878;CS300822;D28769;DQ104251;DQ104252;DQ104253;DQ104254;EU117141;EU428811;EU428812;EU428813;EU428814;EU428815;EU428816;EU826616;EU826617;EU826618;EU826619;EU826620;FJ545655;GU139370;GU139371;GU139372;GU139373;GU139374;GU139375;GU139376;GU139377;GU139378;GU139379;GU139381;GU139382;HQ148133;HQ148134;HQ148135;M91211;NG_029868;NM_001136;NM_001206929;NM_001206932;NM_001206934;NM_001206936;NM_001206940;NM_001206954;NM_001206966;NM_172197;NR_038190;U89336 AAA03574;AAB47491;AAD15888;AAD15889;AAG35728;AAH20669;AAQ10685;AAQ10686;AAQ10782;AAX07272;AAX07273;AAX07274;AAX07275;AAX07276;AAX07277;AAX07278;AAX07279;AAX07280;AAX07281;AAZ32412;AAZ32413;AAZ32414;AAZ32415;ABM84501;ABM87820;ABV03807;ACE78167;ACE78168;ACE78169;ACE78170;ACF47652;ACF47653;ACF47654;ACF47655;ACF47656;ACL80027;ADQ42256;ADQ42257;ADQ42258;ADQ42259;ADQ42260;ADQ42261;ADQ42262;ADV92535;ADV92536;ADV92537;BAA05958;BAA89369;BAC65465;BAC65466;BAG35995;BAG60385;CAB43094;CAB43108;CAK32486;EAX03610;EAX03611;NP_001127;NP_001193858;NP_001193861;NP_001193863;NP_001193865;NP_001193869;NP_001193883;NP_001193895;NP_751947;Q15109 Hs.534342 1678331;1679343;1681314;1683966;1745455;1792758;1793208;2160329;2161369;2161377;2190893 D3S4540;D6S1871;GDB:607721;MARC_10431-10432:999637141:1;PMC162222P2;PMC203021P1;RH40485;RH46823;RH65115;RH67947;STS-D60277 MGC22357;RAGE OTTHUMP00000029155;OTTHUMP00000029156;OTTHUMP00000174885;RAGE isoform NtRAGE-delta;RAGE isoform delta;RAGE isoform sRAGE-delta;advanced glycosylation end product-specific receptor;receptor for advanced glycosylation end products;receptor for advanced glycosylation end-products APPROVED protein-coding ENSG00000204305 320 02568 600214 REVIEWED 1346834 AGMX2 agammaglobulinemia, X-linked 2 (with growth hormone deficiency) 7240710 179 323 1315293 AGFG2 ArfGAP with FG repeats 2 This gene is a member of the HIV-1 Rev binding protein (HRB) family and encodes a protein with one Arf-GAP zinc finger domain, several phe-gly (FG) motifs, and four asn-pro-phe (NPF) motifs. This protein interacts with Eps15 homology (EH) domains and plays a role in the Rev export pathway, which mediates the nucleocytoplasmic transfer of proteins and RNAs. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Feb 2013] 7 7 7 q22.1 94866633 94895642 + 99974770 100003779 + 100136834 100165843 + 1580863;6480464 15489334;14702039;12690205;12477932;10613896;9799793;9303539;8889548;7568168;21832049;22558309;19149558;21358275 3268 A4D2D6;H7BZA5;O95081 AACC02000084;ABBA01013198;ABBA01013199;ABBA01013200;ABBA01013201;ABBA01013202;AC069281;AF015042;AK057758;AK090744;AK314954;AMYH01017738;BC009393;BC017329;BC047227;BF310674;BF314987;BU608908;CH236956;CH471091;NM_006076 AAD01550;AAH09393;AAH17329;BAG37459;EAL23829;EAW76522;EAW76523;EAW76524;EAW76525;NP_006067;O95081 Hs.521083 1788242;2155225;2168562;2182882 D7S3103;SHGC-30530;STS-T78086;WI-16019 HRBL;RABR HIV-1 Rev binding protein-like;HIV-1 Rev-binding protein-like protein;OTTHUMP00000209085;Rev/Rex activation domain binding protein-related;arf-GAP domain and FG repeat-containing protein 2;arf-GAP domain and FG repeats-containing protein 2;nucleoporin;rev/Rex activation domain-binding protein related APPROVED protein-coding ENSG00000106351 5177 04932 604019 REVIEWED 1321481 AGFG1 ArfGAP with FG repeats 1 The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 2 2 q36.3 228045286 228130548 + 228336888 228425938 + 1580863;6480464 7634337;11545741;7637788;18819912;18775314;17081983;16903783;15815621;15749819;15489334;14702039;14701878;14554087;12477932;12429849;10737800;10613896;10358091;9500467;9368759;9303539;9070945;8943370;8805303;8633082;16354571;11854271;20936779;18029348;19262425;8195203;22863883;21832049;22939629;21752912;22558309;21139048;21906983;21439320;11062555;19149558;19149559;21118098;21358275;21360055 3267 B8ZZY2;C9J2I0;H7C0S7;Q53R11 AA676544;ABBA01050181;ABBA01050182;AC097662;AC105286;AI742626;AI955214;AK097451;AK295030;AMYH01011542;BC030592;BC039332;BC045581;BC096272;BC096273;BC096274;BC096275;BE843894;BM474292;BQ016135;BX648387;CB990608;CH471063;DB456989;L42025;NM_001135187;NM_001135188;NM_001135189;NM_004504;X89478 AAC37580;AAH30592;AAH96272;AAH96273;AAH96274;AAH96275;AAX93270;AAY24254;BAG53473;BAG58086;CAA61667;EAW70871;EAW70872;NP_001128659;NP_001128660;NP_001128661;NP_004495;P52594 Hs.352962 1693538;1850421;1854019;2169291;2177077;2190809;2219814 HRB;HRB__6586;RH36613;SHGC-14347;SHGC-58449;WI-15569;WI-4486 DKFZp686I15205;HRB;MGC116938;MGC116940;RAB;RIP HIV-1 Rev binding protein;HIV-1 Rev-binding protein;OTTHUMP00000164242;OTTHUMP00000204059;OTTHUMP00000204060;OTTHUMP00000204061;OTTHUMP00000204062;Rab, Rev/Rex activation domain-binding protein;arf-GAP domain and FG repeat-containing protein 1;arf-GAP domain and FG repeats-containing protein 1;hRIP, Rev interacting protein;nucleoporin-like protein RIP;rev-interacting protein;rev/Rex activation domain-binding protein APPROVED protein-coding 5175 02918 600862 REVIEWED 1606863 AGMO alkylglycerol monooxygenase The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012] 7 7 7 p21.2 15219639 15581346 - 15206468 15568165 - 15239943 15601640 - 6480464 12690205;12477932;20571754;20613766;20081858;20419449;20643956;22220568;22399527;23251661 392636 H0Y3V1;H7C0E0;Q6ZNB7 AACC02000008;AACC02000009;ABBA01056614;ABBA01056615;ABBA01056616;ABBA01056617;ABBA01056618;ABBA01056619;ABBA01056620;ABBA01056621;ABBA01056622;ABBA01056623;AC004452;AC012061;AC091789;AC099412;AC099651;AK131284;AMYH01017085;AMYH01017086;BC108676;CH236948;CH471073;NM_001004320 AAI08677;BAD18458;EAL24290;EAL24291;EAW93665;NP_001004320;Q6ZNB7 Hs.670634 1335544;1676622;1711902;1760603;1764299;1771927;1854789;5022651;7183403 AFM074ZG5;D11S2921;D7S2340;D7S2557;G49562;RH92058;SHGC-144154;SHGC-147914 FLJ16237;MGC131748;TMEM195 OTTHUMP00000201582;alkylglycerol monooxygenase;glyceryl-ether monooxygenase;transmembrane protein 195 APPROVED protein-coding ENSG00000187546 33784 13362 613738 REVIEWED 1318183 AGMAT agmatine ureohydrolase (agmatinase) 1 1 p36.21 15771739 15784192 - 15898194 15911605 - 1580863;6480464;6907045 16710414;16511187;15489334;15028567;14702039;14648699;12477932;11914032;11804860;9758718;8125298;20563878;20379614;20808825;20877624;16341674;19322201;21803059;22939629 79814 Q9BSE5 ABBA01004706;ABBA01004707;AK130034;AK225366;AL121992;AMYH01000274;AY057097;BC005090;BM788254;CH471167;DN996958;NM_024758;U58668 AAH05090;AAL24446;ABM84456;ABM87745;EAW51735;EAW51736;EAW51737;EAW51738;NP_079034;Q9BSE5 Hs.461532 1654060;1699454;2151890;2170938;5014003;5015619;5017326;5020740;5020946;5024413;5037552;5095832 D11S3114;D17S1136;D8S2279;D8S377;L17809;L17877;L17971;RH103318;RH47164;SHGC-2619;SHGC-64014;SHGC-74260 FLJ23384 AUH;OTTHUMP00000002467;agmatinase, mitochondrial protein-coding 18407 12436 VALIDATED 1352363 AGK acylglycerol kinase The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012] 7 7 7 q34 135972707 136075841 + 140897693 141000678 + 141251078 141354209 + 6480464 18004883;17135245;16344560;16269826;15939762;15489334;15252046;14702039;12853948;12690205;12477932;8125298;21145461;16169070;19549252;20877624;19167051;20186120;21875946;23676499;21139048;21890473;21906983;22277967;22284826;22415731;22797925;23266196 55750 A4D1U5;E9PC15;E9PG39;F8WDD1;Q53H12 AACC02000020;ABBA01034104;ABBA01034105;ABBA01034106;ABBA01034107;ABBA01034108;AC004918;AC073878;AC099547;AJ278150;AK001704;AK222769;AK299131;AK304502;AMYH01017997;BC009775;BC022777;CH236950;CH471070;DB032353;NG_032079;NM_018238 AAH09775;AAH22777;AAS07537;AAS07538;BAA91848;BAD96489;BAG61184;BAG65310;CAB93536;EAL24020;EAW83972;EAW83973;NP_060708;Q53H12 Hs.743318 1672232;1679636;1786378;2121441;2128066;2144660 D7S1627;D7S2726;G31090;RH45804;RH80969;SHGC-171949 CATC5;CTRCT38;FLJ10842;MTDPS10;MULK OTTHUMP00000212223;OTTHUMP00000212224;OTTHUMP00000212226;acylglycerol kinase, mitochondrial;hAGK;hsMuLK;multi-substrate lipid kinase;multiple substrate lipid kinase APPROVED protein-coding 21869 08554 212350;610345;614691 REVIEWED 1314958 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 p21 100088228 100162167 + 100315640 100389579 + 1566516;1331525;1598779;1598784;1601129;1642741;1642743;2304191;6480464;6907045;7240710 8755644;15118671;9281456;807434;16705713;15180797;6449198;11766064 9691087;1374391;18924225;17915576;17908927;17047887;15886229;15489334;14718574;12477932;11924557;11378828;10982190;10925384;10571954;9490286;9412782;9332391;8990006;8954797;8702417;2295969;1505983;933239;21145461;15833157;19299494;19754354;19834502;20158661;20379614;18029348;20800603;20562859;20648714;20301788;22939629;22863883;21697133;18781797;21906983;22424883;21628590;23218918;21890473;21963094;22035446;22053931 178 Q9UF08 AB035443;AB208867;AB621804;ABBA01045447;ABBA01045448;AC096949;AK130308;AMYH01000824;AMYH01000825;BC020705;BC057220;BC078663;C00487;CH471097;M85168;NG_012865;NM_000028;NM_000642;NM_000643;NM_000644;NM_000645;NM_000646;U84007;U84008;U84009;U84010;U84011 AAB41040;AAB48466;AAB48467;AAB48468;AAB48469;AAB48470;AAH78663;BAA88405;BAD92104;BAK64140;EAW72980;EAW72981;EAW72982;EAW72983;EAW72984;EAW72985;EAW72986;EAW72987;NP_000019;NP_000633;NP_000634;NP_000635;NP_000636;NP_000637;P35573 Hs.904 1663791;1706818;1706904;2184556;2187597;2187643;5126262;5491761 AGL;AL009285;D1S2186;D1S3207;RH11727;SHGC-80886;SHGC-80940;WI-17303 GDE OTTHUMP00000012500;OTTHUMP00000012501;OTTHUMP00000012502;OTTHUMP00000012503;OTTHUMP00000012504;OTTHUMP00000012505;amylo-1, 6-glucosidase, 4-alpha-glucanotransferase;glycogen debrancher;glycogen debranching enzyme APPROVED protein-coding ENSG00000162688 321 01984 232400;610860 REVIEWED 1312105 AGO4 argonaute RISC catalytic component 4 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic containing PAZ and PIWI domains, and it may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and eukaryotic translation initiation factor 2C, 1. [provided by RefSeq, Jul 2008] 1 1 1 p34 34548288 34595633 + 36046415 36093775 + 36273828 36323491 + 1580863;4144862;6480464 20484662 16094384;12906857;12526743;12414724;11329013;10997877;19470757;18771919;19167051;19393748;20146808;21832049;12477932;21906983;22318606;19383768 192670 Q9HCK5 AB046787;ABBA01023328;ABBA01023329;ABBA01023330;AK000040;AL354864;AL359186;AL831908;AMYH01000491;BC152450;BG186585;CA419947;CH471059;NM_017629 AAI52451;AAI60021;BAA90899;BAB13393;EAX07398;EAX07399;EAX07400;NP_060099;Q9HCK5 Hs.471492 1657682;1690562;1774857;2123559;5022322;5093290 A009K46;AL010009;D11S2560;G32631;RH80595;SHGC-74548 EIF2C4 OTTHUMP00000004431;argonaute 4;argonaute4;eIF-2C 4;eIF2C 4;eukaryotic translation initiation factor 2C, 4;hAgo4;protein argonaute-4 APPROVED protein-coding ENSG00000134698 18424 09559 607356 REVIEWED 1319350 AGO3 argonaute RISC catalytic component 3 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, contains a PAZ domain and a PIWI domain, and may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a tandem cluster of closely related family members including argonaute 4 and eukaryotic translation initiation factor 2C, 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p34 34671200 34796478 + 36169359 36294650 + 36396683 36522063 + 4144862;6480464 20484662 18771919;14702039;12906857;12526743;12477932;12414724;10997877;19470757;21145461;19167051;19393748;23064648;21634124;16196087;21906983;22474261;22318606;19383768 192669 B4E1P5;Q5TA56;Q9H9G7 AA251146;ABBA01023319;ABBA01023320;ABBA01023321;ABBA01023322;ABBA01023323;AK022827;AK027796;AK292870;AK302289;AK303929;AL138787;AL139286;AMYH01000492;BC025769;BC066888;BC144409;BF438817;BF979526;BX104163;CH471059;NM_024852;NM_177422 AAH66888;AAI56435;AAI72480;BAB14262;BAB55374;BAF85559;BAG63629;BAG64857;EAX07394;EAX07395;NP_079128;NP_803171;Q9H9G7 Hs.657659 1697882;1754811;2147155;2151124 RH102469;SHGC-141728;SHGC-74570;SHGC-74579 EIF2C3;FLJ12765;MGC86946 OTTHUMP00000008758;OTTHUMP00000008759;argonaute 3;argonaute3;eIF-2C 3;eIF2C 3;eukaryotic translation initiation factor 2C, 3;hAgo3;protein argonaute-3 APPROVED protein-coding ENSG00000126070 18421 09558 607355 REVIEWED 1312163 AGO1 argonaute RISC catalytic component 1 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and argonaute 4. [provided by RefSeq, Jul 2008] 1 1 p34.3 36121397 36162486 + 36348810 36389899 + 1580863;4144862;6480464 20484662 12526743;10534406;19138993;19047128;18771919;18345015;17932509;17891150;17482383;16936728;16936726;16756390;16710414;15937477;15908945;15489334;15152257;14702039;12906857;12477932;12414724;12230974;10512872;9417904;23019594;19470757;21145461;19913121;20628086;20721975;20732906;20819778;20308539;18482256;19167051;19269368;19393748;19723326;19767416;19851984;19946268;20211803;22647351;22961379;21846468;16196087;21906983;22231398;22474261;21963094;21988832;22858679;23426184;22025453;19716330;17267406;17400507;18779327;20671708;19380743;19383768;21948796 26523 Q5TA58;Q9UL18 ABBA01023323;ABBA01023324;ABBA01023325;ABBA01023326;ABBA01023327;AF093097;AK000326;AK001622;AK002003;AK027611;AK314148;AL139286;AMYH01000491;BC063275;CH471059;CR936823;NM_012199;U92986 AAF00068;AAH63275;BAG36835;BAG50952;EAX07396;NP_036331;Q9UL18 Hs.22867 1660836;1700796;1745923;1771522;1771524;2114457;2121075;2217296 A006G35;EIF2C1_617;G20793;G64298;L18179;RH104023;SHGC-74590;SHGC-74594 DKFZp686M13167;EIF2C;EIF2C1;GERP95;Q99 Golgi Endoplasmic Reticulum protein 95 kDa;OTTHUMP00000008518;OTTHUMP00000008519;argonaute 1;argonaute1;eIF-2C 1;eIF2C 1;eukaryotic translation initiation factor 2C, 1;hAgo1;protein argonaute-1;putative RNA-binding protein Q99 APPROVED protein-coding 3262 06942 606228 REVIEWED 732767 AGO2 argonaute RISC catalytic component 2 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 8 8 q24 141610446 141714827 - 141541264 141645646 - 1580863;4144862;6480464 20484662 14749716;17495927;10534406;17524464;18771919;17671087;19324964;19167051;19159466;19138993;19064005;19061863;19047128;18981691;18946079;18787018;18690212;18591665;18476811;18222171;18178619;17932509;17891150;17881374;17531811;17382880;17116888;16936728;16756390;16699599;16611939;16357216;16301602;15937477;15908945;15800637;15489334;15284456;14970384;12906857;12526743;12477932;22682761;23077538;23091627;12414724;12230974;11914277;17938239;20721975;21383194;15973356;16424907;19393748;19458189;19508234;19536157;19625255;19723326;19784364;19801630;19820710;19851984;19946268;20211803;20385818;20402672;23636329;22163034;20146808;20308539;20696395;20197313;20505670;20198652;20395958;20237157;20699384;21177824;18669659;20924207;22318606;21071408;21552258;19560422;22961379;22647351;23019594;21148147;21241449;21423624;21634124;21868483;16196087;21840310;23143396;23258480;21903422;21964070;21769619;21846468;21951848;21969601;22055194;21535412;21139048;21562054;21906983;22215596;22233755;22474261;22539551;22366686;19322201;19647520;22394132;19470757;21145461;22014067;19716330;21963094;21988832;23245472;22858679;23400010;22025453;17267406;17400507;20671708;22791714;19380743;19383768;19838187;21948796;22851315;23201202 27161 A4FVC0;E5RGG9;E5RJY2;Q9UKV8 AA909234;ABBA01013673;ABBA01013674;AC067931;AC107375;AF121255;AI468419;AMYH01019067;AY077717;BC007633;BC018727;BC125213;BC125214;BT007229;CH471060;CS300529;NM_001164623;NM_012154 AAF13034;AAH07633;AAH18727;AAI25214;AAI60104;AAL76093;AAP35893;CAK32193;EAW92207;EAW92208;NP_001158095;NP_036286;Q9UKV8 Hs.743313 1341123;1662396;1671989;1685037;1700416;1762431;1779998 D8S1635;D8S1717;RH103829;RH45183;SHGC-146257;SHGC-154248;WI-11623 EIF2C2;MGC3183;Q10 OTTHUMP00000226229;OTTHUMP00000226251;PAZ Piwi domain protein;PPD;argonaute 2;argonaute2;eIF-2C 2;eIF2C 2;eukaryotic translation initiation factor 2C, 2;hAgo2;protein argonaute-2;protein slicer APPROVED protein-coding ENSG00000123908 3263 06943 606229 REVIEWED 3077880 AGPAT5P1 1-acylglycerol-3-phosphate O-acyltransferase 5 pseudogene 1 Y Y p11.2 3221849 3222840 + 3161849 3162850 + 646231 ABBA01069784;AC006152;NG_028688 5023047 sY3020 pseudo 37709 INFERRED 1348475 AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 6 6 p21.3 32243967 32253820 - 32135983 32145888 - 1580863;6480464;6907045 9461603;19143821;17707131;16870193;16571775;15489334;14702039;14656967;14574404;12477932;11487472;9450025;9291118;9212163;9110174;8619474;19851445;16341674;16344560;8944226;19322201;22359512;23088713;23362303;22797925 10554 Q99943;Q9HBM8 ABBA01038108;AF007145;AF218034;AI193422;AK056346;AK058025;AK129818;AK299252;AK315950;AL662828;AL662884;AL845464;AMYH01016234;BC002402;BC003007;BC004310;BC006818;BC090849;BM763275;BX284686;BX927239;CH471081;CR812478;CR933878;DA529681;DB118884;NM_006411;NM_032741;U56417;U75971;U89336;Y09565 AAB47493;AAB58775;AAB96378;AAC19153;AAG17276;AAH02402;AAH03007;AAH04310;AAH90849;BAG51685;BAG61283;BAH14321;CAA70758;EAX03599;EAX03600;EAX03601;EAX03602;EAX03603;EAX03604;EAX03605;EAX03606;NP_006402;NP_116130;Q99943 Hs.409230 1675331;2124218;2136027;2191639 D6S1154E;D6S1412;MARC_31849-31850:1068218042:1;RH91426 1-AGPAT1;G15;LPAAT-alpha;LPAATA;MGC4007;MGC5423 1-AGP acyltransferase 1;1-AGPAT 1;1-acyl-sn-glycerol-3-phosphate acyltransferase alpha;1-acylglycerol-3-phosphate O-acyltransferase 1 (acetoacetly Coenzyme A thiolase);1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha);OTTHUMP00000029298;OTTHUMP00000029299;OTTHUMP00000029300;OTTHUMP00000029301;OTTHUMP00000029302;OTTHUMP00000174886;lysophosphatidic acid acyltransferase alpha;lysophospholipid acyltransferase APPROVED protein-coding ENSG00000204310 324 04372 603099 REVIEWED 1319453 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 9 9 q34.3 138687416 138701732 - 139567595 139581911 - 1580863;1598407;1598785;6480464;6907045;7240710 11967537 9461603;9242711;9212163;18698612;18155601;16870193;16435205;15841084;15629135;15489334;15181077;15146197;15028826;14602785;12477932;10487716;9291118;19226263;19278620;8944226;22872237;21152068;21176343;21890473;21906983;21873652;21987572;20301391;21963094;21988832;22902344 10555 O15120;Q96IS9 ABBA01022716;AF000237;AF011374;AL590226;AMYH01021869;BC000026;BC004529;BC007269;BC019292;BF347518;CH471090;CN407343;NG_008090;NM_001012727;NM_006412;U56418 AAB58776;AAB64299;AAC51649;AAH00026;AAH04529;AAH07269;AAH19292;ABM83072;ABM86268;EAW88249;EAW88250;EAW88251;EAW88252;NP_001012745;NP_006403;O15120 Hs.320151 1336577;1341252;1680032;2110245 AGPAT2_9138;D9S1818;D9S1826;RH41872 1-AGPAT2;BSCL;BSCL1;LPAAB;LPAAT-beta 1-AGP acyltransferase 2;1-AGPAT 2;1-acyl-sn-glycerol-3-phosphate acyltransferase beta;1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta);1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase-beta);OTTHUMP00000022595;OTTHUMP00000022596;lysophosphatidic acid acyltransferase beta;lysophosphatidic acid acyltransferase-beta APPROVED protein-coding ENSG00000169692 325 04373 603100;608594 REVIEWED 1354001 AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. [provided by RefSeq, Jul 2008] 6 6 6 q26 162280457 162424409 - 161471047 161615097 - 161551057 161695107 - 1580863;6480464;6907045 15367102;11487472;17474147;15489334;14574404;12975309;12477932;9828130;17207965;20379614;21906983 56895 B4DMU6;B4DSF9;G3XAF1;H0Y5R3;Q5TEE8;Q6AI25;Q9NRZ5 ABBA01015147;ABBA01015148;ABBA01015149;ABBA01015150;AF156776;AJ227890;AJ227891;AJ420473;AK074208;AK295025;AK295548;AK295826;AK297636;AK299721;AL109942;AL122123;AL832128;AMYH01016820;AMYH01016821;AY358506;BC013410;BC020209;BQ072907;CH471051;CR627395;NM_020133 AAF80338;AAH13410;AAH20209;AAQ88870;ADQ32161;BAG58081;BAG58454;BAG58643;BAG60008;BAG61621;CAH10489;EAW47577;EAW47578;EAW47579;EAW47580;EAW47581;EAW47582;EAW47583;NP_064518;Q9NRZ5 Hs.353175 1650530;1751979;1775020;2158527 RH46750;RH63713;SHGC-105981;WI-13958 1-AGPAT4;LPAAT-delta;RP3-473J16.2;dJ473J16.2 1-AGP acyltransferase 4;1-AGPAT 4;1-acyl-sn-glycerol-3-phosphate acyltransferase delta;1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta);OTTHUMP00000017554;lysophosphatidic acid acyltransferase delta;lysophosphatidic acid acyltransferase-delta (LPAAT-delta) APPROVED protein-coding ENSG00000026652 20885 12437 614795 REVIEWED 1348313 AGPAT4-IT1 AGPAT4 intronic transcript 1 (non-protein coding) 6 6 6 q26 162310546 162312414 - 161501136 161503006 - 161581146 161583014 - 6480464 15489334;14702039;14574404;12477932;11230166 79992 Q9H0P7 ABBA01015150;AK026765;AL136708;AMYH01016820;BC101668;BC112291;CH471051;NR_024277 BAB15545;CAB66643;EAW47584;Q9H0P7 Hs.664873 5493127 UniSTS:484386 C6orf59;FLJ23112;NCRNA00241 APPROVED miscrna 20988 12889 VALIDATED 1314029 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 30390772 30513125 + 44109544 44231903 + 45285116 45407475 + 1580863;6480464;6907045 12107412;15367102;16620771;16780588;15489334;14702039;12975309;12477932;11487472;21173190;19635840;20379614;17207965;20537980;21832049;21890473;21906983;21829377 56894 C9J184;C9JK35;C9JL26;C9JQX8;Q9NRZ7 AB001523;AB040138;ABBA01074146;ABBA01074147;ABBA01074148;ABBA01074149;ABBA01074150;ABBA01074151;AF156774;AF156775;AK026135;AK074300;AK125804;AK300562;AL109795;AL355720;AL355721;AL832919;AMYH01012285;AMYH01012286;AP001053;AP001054;AY358704;BC004219;BC004413;BC011971;BC013167;BC026047;BC040603;BC063552;BM083518;BM476336;CD672915;CH471079;NM_001037553;NM_020132 AAF80336;AAF80337;AAH11971;AAH40603;AAH63552;AAQ89067;ADQ31993;BAB18943;BAB85042;BAC86299;BAG62268;CAD38635;EAX09461;EAX09462;EAX09463;EAX09464;EAX09465;NP_001032642;NP_064517;Q9NRZ7 Hs.248785 1341100;1644083;1688871;1690818;1735038;1763671;1768583;1776970;1850451;1851179;1858212;2143529;2151093;2151095;2163115;2163117;2167021;2177233;2187280;5016596;5017227;5020881;5022450;5022576;5022651;5109281;7186336 A001U44;A006H21;D10S275;D11S2921;D1S1361;D1S1425;D21S1259;D21S1730E;D21S1978;D21S2032;G19674;G20808;G34528;G34769;G38154;GDB:631802;L17709;RH79188;RH80899;RH93369;SHGC-147354;SHGC-51977;SHGC-52117;SHGC-52127;SHGC-87692;SHGC-87713 LPAAT-GAMMA1;LPAAT3;MGC4604 1-AGP acyltransferase 3;1-AGPAT 3;1-acyl-sn-glycerol-3-phosphate acyltransferase gamma;OTTHUMP00000109478;OTTHUMP00000109479;OTTHUMP00000109480;OTTHUMP00000109481;OTTHUMP00000109482;OTTHUMP00000109485;OTTHUMP00000109487;lysophosphatidic acid acyltransferase gamma;lysophosphatidic acid acyltransferase-gamma1 APPROVED protein-coding ENSG00000160216 326 10637 614794 REVIEWED 1347516 AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 6543403 6596547 + 6553286 6606432 + 6565878 6619024 + 1580863;6480464 15367102;11487472;11256614;16620771;16381901;16341674;15489336;15489334;14702039;12477932;11230166;11076863;21173190;20379614;20877624;17549794;21890473;21906983;19322201 55326 E5RH21;H0YAW1;H0YC22;Q9NUQ2 ABBA01007056;AF287957;AF375789;AK002072;AK021722;AK310545;AL136587;AL514578;AMYH01018300;BC023550;BC068519;BC080537;BM837881;CA414711;CH471153;CQ834440;CQ834528;NM_018361 AAH23550;AAH68519;AAH80537;AAK54809;ABM84362;ABM87746;BAA92069;CAB66522;CAH05435;CAH05479;CAL37777;CAL37936;EAW80476;EAW80477;EAW80478;NP_060831;Q9NUQ2 Hs.624002 1644970;1695346;1756553;1850483;1852847;2107275;2163712 D8S1511;LPAAT-e__7430;RH18525;SHGC-143582;SHGC-64777;STS-N27164;WI-14718 1AGPAT5;LPAATE 1-AGP acyltransferase 5;1-AGPAT 5;1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon;1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon);OTTHUMP00000224507;lysophosphatidic acid acyltransferase epsilon APPROVED protein-coding 20886 12438 614796 REVIEWED 1606717 AGPAT6 1-acylglycerol-3-phosphate O-acyltransferase 6 Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.[supplied by OMIM, Apr 2004] 8 8 8 p11.21 40384627 40431440 + 41554876 41597971 + 41435707 41482520 + 6480464;6907045 18238778;16713569;16625827;15489334;12975309;12938015;12477932;8944226;20181984;21906983 137964 E5RGW3;E5RHA6;E5RIA1;Q2TU73;Q86UL3 ABBA01021135;AC009630;AF317516;AF406612;AL834255;AMYH01018672;AY358670;AY513610;BC051377;BC061884;BU620295;CH471080;DB470455;GM839075;NM_178819 AAG33063;AAH51377;AAH61884;AAP21893;AAQ89033;AAS82774;CAD38930;CAT16184;EAW63253;EAW63254;EAW63255;NP_848934;Q86UL3 Hs.355753 1655098;1680130;1707066;1718565;1854001 A004O41;RH122486;RH93524;SHGC-81288;STS-H81989 1-AGPAT 6;DKFZp586M1819;LPAAT-zeta;LPAATZ;TSARG7 1-AGP acyltransferase 6;1-AGPAT 6;1-acyl-sn-glycerol-3-phosphate acyltransferase zeta;1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta);GPAT4;OTTHUMP00000225814;acyl-CoA:glycerol-3-phosphate acyltransferase 4;glycerol-3-phosphate acyltransferase 4;glycerol-3-phosphate acyltransferase 6;lysophosphatidic acid acyltransferase zeta;testis spermatogenesis apoptosis-related protein 7 APPROVED protein-coding ENSG00000158669 20880 12175 608143 VALIDATED 1348196 AGS1 Aicardi-Goutieres syndrome 1 7240710 10827106 27003 332 152700;192315;225750;610448 1350354 AGS2 Aicardi-Goutieres syndrome 2 7240710 497264 31917 102500;610181;610205 1606210 AGPAT9 1-acylglycerol-3-phosphate O-acyltransferase 9 This gene encodes a member of the lysophosphatidic acid acyltransferase protein family. The encoded protein is an enzyme which catalyzes the conversion of glycerol-3-phosphate to lysophosphatidic acid in the synthesis of triacylglycerol. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012] 4 4 4 q21.23 81748096 81817458 + 84676677 84746050 + 84457067 84527028 + 6480464;6907045 17170135;17002884;15221005;14702039;12975309;12477932;8125298;20181984;21310131;19322201;16341674;16344560;21139048;21890473;21906983;23251661 84803 Q53EU6 AB075872;ABBA01063465;ABBA01063466;AC021192;AC096768;AK055749;AK223543;AMYH01014360;AMYH01014361;AY358100;BC006236;BC073136;BC090956;BM841009;CH471057;DA393801;DA673378;DQ324782;DQ345298;GM839137;HI574350;NM_001256421;NM_001256422;NM_032717 AAH73136;AAH90956;AAQ88467;ABC55674;ABC70186;BAB71002;BAD38654;BAD97263;CAT16202;CBX47664;EAX05944;EAX05945;EAX05946;NP_001243350;NP_001243351;NP_116106;Q53EU6 Hs.99196 1688967;2110559 MGC11324__7665;RH92406 AGPAT8;GPAT3;HMFN0839;LPAAT-theta;MAG1;MGC11324 1-AGP acyltransferase 9;1-AGPAT 9;1-acylglycerol-3-phosphate O-acyltransferase 8;GPAT-3;MAG-1;OTTHUMP00000160987;OTTHUMP00000160988;acyl-CoA:glycerol-3-phosphate acyltransferase 3;endoplasmic reticulum associated GPAT;glycerol-3-phosphate acyltransferase 3;hGPAT3;lung cancer metastasis-associated protein 1;lysophosphatidic acid acyltransferase theta;lysophosphatidic acid acyltransferase, theta APPROVED protein-coding ENSG00000138678 28157 14417 610958 VALIDATED 1346339 AGTBP angiotensin binding protein 184 334 732011 AGPS alkylglycerone phosphate synthase This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008] 2 2 q31.2 177965731 178112411 + 178257471 178408564 + 1300366;1598794;1580863;6480464;7240710 9553082;7407223 10215861;18571506;17601746;11330037;11152660;10683770;10553003;10415121;10384985;9266692;9187299;8125298;7807941;4031664;3646870;2464339;1495418;20379614;20562859;18029348;20877624;16756494;22939629;20972266;21139048;21890473;21525035;22002062;21990100;12477932;21987572;23752268;22190034 8540 B8ZZ81;O00116 AA832354;ABBA01062237;ABBA01062238;AC016762;AC019080;AC073834;AK296239;AK309714;AK314259;AK316240;AL359559;AMYH01011298;AY544121;BC141820;BQ007087;CH471058;CR749699;DC402978;NG_008968;NM_003659;Y09443 AAI41821;AAT11152;AAX93112;AAY14986;AAY24300;BAG36924;BAH12290;BAH14611;CAA70591;EAX11057;EAX11058;NP_003650;O00116 Hs.516543 1647688;2138837;2177671 RH65564;RH69481;WI-15756 ADAP-S;ADAS;ADHAPS;ADPS;ALDHPSY;DKFZp762O2215;FLJ99755 OTTHUMP00000163353;aging-associated gene 5 protein;aging-associated protein 5;alkyl-DHAP synthase;alkyldihydroxyacetonephosphate synthase, peroxisomal;alkylglycerone-phosphate synthase APPROVED protein-coding ENSG00000018510 327 04337 600121;603051 REVIEWED 736333 AGRP agouti related protein homolog (mouse) This gene encodes an antagonist of the melanocortin-3 and melanocortin-4 receptor. It appears to regulate hypothalamic control of feeding behavior via melanocortin receptor and/or intracellular calcium regulation, and thus plays a role in weight homeostasis. Mutations in this gene have been associated with late on-set obesity. [provided by RefSeq, Dec 2009] 16 16 q22 66073975 66075217 - 67516474 67517716 - 1625232;1331525;1300272;1625233;1580863;1357925;2314000;2311538;2314004;6480464;6484113;7240710 12213871;15118671;11344185;15054840;15189116;11554767;18001323;11179781 20164781;9311920;10318826;19285986;19077438;19058789;17197106;17180153;17041250;16904835;16820227;16568137;16320160;16314751;16280444;16130030;15978665;15597110;15546902;15489334;15121772;12815165;12477932;12153462;12056887;11747427;11602360;11487744;11326303;11196643;10371151;22492775;10366820;9893984;9892020;9751529;9724530;9354787;9119224;15927146;19602223;19942238;20404050;20468064;19770186;23118421;21531082;22477065 181 C6SUN5;O00253 ABBA01025438;AC009061;AF281309;AF314194;AMYH01007747;BC110443;BK006637;CH471092;DQ374394;NG_011482;NG_011501;NM_001138;U88063;U89485 AAB52240;AAB68621;AAI10444;AAK96256;AAL09457;ABC88473;DAA06531;EAW83137;NP_001129;O00253 Hs.104633 1678361;1794042;1794062;1794466;1794468;5017957;5493035 AGRP_s1;PMC310777P1;PMC310777P2;PMC314306P7;PMC314306P8;RH65050;UniSTS:483944 AGRT;ART;ASIP2;MGC118963 OTTHUMP00000174803;agouti-related protein 2289478 SLEP18_H APPROVED protein-coding ENSG00000159723 330 09079 601665;602311 REVIEWED 1606873 AGRN agrin This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. [provided by RefSeq, Aug 2011] 1 1 p36.33 945366 981355 + 955503 991499 + 6480464;6907045;7240710 1326608;22423096;9652404;9405491;15340048;9151673;19598235;19194276;19166823;18025246;17640714;16713569;16487930;16106752;16037493;15694127;15691710;15146197;14702039;12477932;12270958;12073527;12070669;8617505;1851019;1659950;8205617;22307776;22205389;20471664;19631309;19940118;9417121;17628813;21078624;21139048;20301347;17170699;23000965 375790 H0Y5U1;O00468 AB191264;ABBA01016009;ABBA01016010;ABBA01016011;AF016903;AK021586;AK125197;AK128761;AL645608;AMYH01000104;AMYH01000105;AMYH01000106;AMYH01000107;AMYH01000108;AMYH01000109;AMYH01000110;AW119098;AW204172;BC004220;BC007649;BC034009;BC063620;BC084578;BE383214;BF569502;BF740118;BQ892267;CH471183;CK000983;CN314674;CN314678;NG_016346;NM_198576;S44195;U84406 AAB23327;AAB52917;AAC39776;AAH04220;AAH07649;AAH34009;AAH63620;AAH84578;BAD52440;BAG51039;EAW56293;NP_940978;O00468 Hs.273330;Hs.602356 FLJ45064 OTTHUMP00000038465;agrin;agrin proteoglycan APPROVED protein-coding ENSG00000188157 329 10550 103320;254300 REVIEWED 1312142 AGR2 anterior gradient 2 7 7 p21.3 16797960 16811133 - 16832264 16844738 - 2325658;2325659;2325661;6480464 19714807;19609859;16598187 15340161;18973922;18829536;18801625;18029348;17694278;17457305;16713569;16551856;16222343;16189514;16169070;15935701;15834940;15489334;12975309;12853948;12690205;12592373;12477932;10965104;9790916;8125298;22072305;22231555;21454516;22752467;22467239;21281432;20550709;20945500;20525379;19359471;19834055;20048076;20403997;20877624;20888340;20525245;20299546;21144054;21200134;22748473;22521076;21948970;21151833;22430137;21768879;22184114;22659167;22025610;22147918;22945652;23402259;20706999;23382691;23386860;23438482;23220234;21832049;22828706;22911164 10551 B5MC07;C9J3E2;H7C3Z9;O95994;Q4JM46;Q4JM47 AACC02000008;ABBA01056635;AC073333;AF007791;AF038451;AF038452;AF087879;AF088867;AF115926;AK223067;AK296721;AK312942;AMYH01017094;AY359009;BC015503;BF680655;BT007048;CH236948;CH471073;CS488906;DQ070893;NM_006408 AAC77358;AAC82614;AAF22484;AAH15503;AAL54870;AAP22354;AAP35697;AAP97179;AAQ89368;AAY84773;AAY84774;AAY84775;AAY84776;ABM81571;ABM84751;BAD96787;BAG35784;BAG59310;CAM55980;EAL24283;EAW93682;EAW93683;NP_006399;O95994 Hs.530009 2121127 GDB:1318074 AG2;GOB-4;HAG-2;PDIA17;XAG-2 AG-2;HPC8;OTTHUMP00000116014;OTTHUMP00000201755;OTTHUMP00000201757;anterior gradient 2 homolog;anterior gradient 2 homolog (xenopus laevis);anterior gradient homolog 2;anterior gradient protein 2 homolog;protein disulfide isomerase family A, member 17;secreted cement gland homolog;secreted cement gland protein XAG-2 homolog APPROVED protein-coding 328 05896 606358 VALIDATED 1604981 AGR3 anterior gradient 3 7 7 7 p21.1 16879344 16901918 - 16865555 16888138 - 16899030 16921613 - 6480464 15489334;12975309;15935701;15340161;12690205;12592373;12477932;12477722;8889548;20219921;22361111;21451362;21988832;23386860 155465 B5MC62;H7C040;Q8TD06 AACC02000008;ABBA01056636;AC098592;AMYH01017094;AY069977;AY359065;BC058284;BG540617;BM984550;BU682778;CB242846;CH236948;CH471073;NM_176813 AAH58284;AAL55402;AAQ89424;EAL24282;EAW93685;NP_789783;Q8TD06 Hs.100686 5123716 RH66426 AG3;BCMP11;HAG3;PDIA18;hAG-3 AG-3;OTTHUMP00000158512;OTTHUMP00000201702;OTTHUMP00000201703;anterior gradient 3 homolog;anterior gradient homolog 3;anterior gradient protein 3 homolog;breast cancer membrane protein 11;protein disulfide isomerase family A, member 18 APPROVED protein-coding ENSG00000173467 24167 16545 609482 VALIDATED 1314853 AGTPBP1 ATP/GTP binding protein 1 NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002] 9 9 9 q21.33 58731693 58927167 - 87351275 87546709 - 88161454 88356944 - 6480464 16713569;15302935;14702039;12477932;11884758;11083920;10470851;17043677;21139048;21890473;15385968 23287 B4DHX2;Q5VZW3;Q5VZW6;Q9H9W8 AB028958;ABBA01034038;ABBA01034039;ABBA01034040;ABBA01034041;AJ420433;AJ437018;AK001544;AK022562;AK023280;AK024698;AK295304;AK295774;AK299506;AL157882;AL451131;AL833359;AMYH01021470;BC060815;BX648366;CA449535;CH471089;DC334722;NM_015239 AAH60815;BAA82987;BAA91749;BAB14100;BAB14505;BAG58284;BAG58598;BAG61460;CAD24587;CAH56158;CAH56222;EAW62694;EAW62695;EAW62696;EAW62697;EAW62698;EAW62699;NP_056054;Q9UPW5 Hs.719980 1337041;1643790;1665388;1679914;1735938;1773180;1773182;2150328;2163491;2170789;2218198 A005K03;A006N11;AGTPBP1__4266;D9S1067E;D9S1865;D9S1981;D9S954;G20277;RH11900;RH65354;RH99172 CCP1;DKFZp686M20191;KIAA1035;NNA1 ATP/GTP-binding protein 1;OTTHUMP00000021580;OTTHUMP00000021581;carboxypeptidase-tubulin;cytosolic carboxypeptidase 1;nervous system nuclear protein induced by axotomy;nervous system nuclear protein induced by axotomy protein 1 homolog;soluble carboxypeptidase;tubulinyl-Tyr carboxypeptidase;tyrosine carboxypeptidase APPROVED protein-coding ENSG00000135049 17258 08442 606830 VALIDATED 68977 AGTR1 angiotensin II receptor, type 1 Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Multiple alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Jul 2012] 3 3 q24 149898348 149943480 + 148415658 148460790 + 1566498;1566499;1580863;737778;629553;1598885;1582124;1331525;1581825;1598878;1581847;1582152;737777;1601149;1601146;1601148;1601150;1601152;1601151;737809;737810;2292665;1642975;5129174;5129176;5133683;5147455;5129169;5147450;5129194;5129177;5129198;5147453;5129165;5129164;5147454;5147451;5147452;5129185;5147460;5129168;5147456;5147457;5129175;5129179;2316188;6480464;6903861;6903863;6903866;6903851;6903857;6903849;1303381;6903859;6903864;6903280;6903284;6907045;7240710 12975417;9857918;9466969;12446719;10994756;11295571;15118671;10977869;16116425;16141358;11100981;10639182;16109907;17211857;16519598;16061119;9456365;15612584;7724593;11877468;18421211;16565309;21367774;21346625;9287353;16796846;21040717;19332265;21078800;21326341;20886512;20080265;20560294;21319597;18500976;18451329;17877756;21282555;20621762;20723410;8181542;19080339;21357516;21303825;14559250;12172324;12089373;11819209;15930094;14982483;16725227;2;12495295;12077487;21102591;20042458 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185 D3DNG8;P30556;Q53YY0;Q6NUP5;Q8TBK4 ABBA01058952;AC024897;AF245699;AI016286;AI240900;AK291541;AMYH01013568;AV651073;AY221090;AY436325;BC022447;BC068494;CH471052;D13814;DA649921;EU332837;M87290;M91464;M93394;NG_008468;NM_000685;NM_004835;NM_009585;NM_031850;NM_032049;S70433;S77410;U07144;X65699;Z11162 AAA35535;AAA35569;AAA58370;AAB34644;AAF70464;AAH22447;AAH68494;AAO65968;AAR03503;ABM83314;ABM86527;ABY87526;BAA02968;BAF84230;CAA46621;CAA77513;EAW78905;EAW78906;EAW78907;EAW78908;EAW78909;NP_000676;NP_004826;NP_033611;NP_114038;NP_114438;P30556 Hs.477887;Hs.744837 1743075;1744251;1744477;1761909;1771995;1794290;1794792;2129334;2144495;2161925;2191109;5123332 GDB:251663;GDB:438967;GDB:455679;MARC_14779-14780:1010671130:1;PMC310924P4;PMC55900P1;RH11116;RH17842;RH48548;SGC38226;SHGC-12732;SHGC-145843 AG2S;AGTR1A;AGTR1B;AT1;AT1AR;AT1B;AT1BR;AT1R;AT2R1;AT2R1A;AT2R1B;HAT1R AT1AR;AT1BR;OTTHUMP00000215600;OTTHUMP00000215601;OTTHUMP00000215602;angiotensin II type-1 receptor;angiotensin receptor 1;angiotensin receptor 1B;type-1 angiotensin II receptor;type-1B angiotensin II receptor APPROVED protein-coding ENSG00000144891 336 00107 106165;145500;267430 REVIEWED 731070 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. 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183 B0ZBE2;B2R5S1;P01019 AB209769;ABBA01033026;AK222798;AK222815;AK293507;AK303755;AK307978;AK312291;AL158214;AL512328;AMYH01001814;AU128714;AW128887;AY436323;BC011519;BF338744;BT006851;CH471098;DC412932;EU326304;K02215;M24689;M69110;NG_008836;NM_000029;S78529;S78530;T97863;W01494;X15324 AAA51679;AAA51731;AAA52282;AAD14287;AAD14288;AAH11519;AAP35497;AAR03501;ABM81942;ABM85122;ACA05910;BAD93006;BAD96518;BAD96535;BAG35218;BAG56991;BAG64725;CAA33385;EAW69918;EAW69919;NP_000020;P01019 Hs.19383 1681855;1689284;1694916;1716617;1794284;1856336;2117306;2160872;2179161;2181712;2218982 AGT_4206;G34823;G44347;PMC310924P1;RH11650;RH11822;RH121565;RH76317;RH91381;STS-H64380;WI-8965 ANHU;FLJ92595;FLJ97926;SERPINA8 OTTHUMP00000035878;alpha-1 antiproteinase, antitrypsin;angiotensin I;angiotensin II;angiotensinogen;angiotensinogen (serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 8);pre-angiotensinogen;serine (or cysteine) proteinase inhibitor;serpin A8 APPROVED protein-coding ENSG00000135744 333 00106 106150;145500;267430 REVIEWED 736336 AGXT alanine-glyoxylate aminotransferase This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008] 2 2 q37.3 241456835 241467210 + 241808162 241818536 + 1302510;1300367;1300048;1580863;6480464;6907045;7240710 8101040;2039493 2363689;15911627;12899834;15802217;3709805;1703535;7813517;19155213;18782763;18492492;18468259;18448374;18289107;17495019;17460142;17110443;16971151;16912707;15961951;15849466;15365967;15327387;15253729;12777626;12477932;12169688;11562405;11085934;10960483;10862087;10453743;10394939;9192270;8906307;8507692;8034295;2253628;2045108;22529745;1961759;1349575;1301173;17696873;19451220;15956068;16169070;19479957;19887726;20016466;20056599;20059472;20133649;20208150;20308030;16712791;20734048;20877624;20301460;20713123;20020206;21612638;21103899;22018727;22201765;22198249;21988832;23229545;3418107;20178365;20462248;9053548 189 P21549;Q9UJX1 AA857309;AB292648;ABBA01006034;AC104809;AF191687;AF348451;AK292754;AK298400;AK298420;AK315331;AK316495;AMYH01011626;BC132819;CB156891;CH471063;D13368;M61763;NG_008005;NM_000030;S71388;X53414;X56092;X74208;X74209 AAA51680;AAB20488;AAF05604;AAI32820;AAK30157;AAY24168;BAA02632;BAF46862;BAF85443;BAG37731;BAH12776;BAH12784;BAH14866;CAA37493;CAA39572;EAW71221;EAW71222;NP_000021;P21549 Hs.144567 1341596;1778065;5015961;5024756 D14S779;D15S1477;RH68691;RH80030 AGT;AGT1;AGXT1;PH1;SPAT;SPT;TLH6 L-alanine: glyoxylate aminotransferase 1;OTTHUMP00000164504;alanine--glyoxylate aminotransferase;hepatic peroxisomal alanine:glyoxylate aminotransferase;serine--pyruvate aminotransferase;serine-pyruvate aminotransferase;serine:pyruvate aminotransferase APPROVED protein-coding ENSG00000172482 341 05048 259900;604285 REVIEWED 1352542 AGXT2 alanine--glyoxylate aminotransferase 2 The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. [provided by RefSeq, Dec 2008] 5 5 5 p13 34880411 34930420 - 35033963 35083756 - 34998206 35048240 - 1580863;6480464;6907045 15342556;15240345;14702039;12477932;8125298;7592550;16344560;20018850;20877624;15956068;21572414;23023372;21931564 64902 E9PDL7;Q9BYV1 AB193309;ABBA01039261;AC010368;AJ292204;AK055732;AK055757;AK223128;AK223144;AK223375;AK296109;AK314691;AMYH01015023;BC144268;BC150603;BP277413;CH471119;DA633665;NM_031900 AAI44269;AAI50604;AAI56125;AAI56920;BAD66662;BAD96848;BAD97095;BAG37242;BAG51563;BAG51568;BAH12259;CAC24841;EAW55912;NP_114106;Q9BYV1 Hs.34494 1686997;1751383;1778058;2120132;2156050;2160971 D5S2573;RH17937;RH78189;RH99171;SGC33361;SHGC-105268 AGT2;DAIBAT (R)-3-amino-2-methylpropionate--pyruvate transaminase;OTTHUMP00000115997;OTTHUMP00000221043;alanine--glyoxylate aminotransferase 2, mitochondrial;beta-ALAAT II;beta-alanine-pyruvate aminotransferase APPROVED protein-coding ENSG00000113492 14412 10638 612471 REVIEWED 1350151 AGTRAP angiotensin II receptor-associated protein This gene encodes a transmembrane protein localized to the plasma membrane and perinuclear vesicular structures. The gene product interacts with the angiotensin II type I receptor and negatively regulates angiotensin II signaling. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 1 1 p36.22 11718729 11733415 + 11796142 11810828 + 2314353;2314351;6480464 17875818;18725581 16710414;15757644;15668245;15489334;14985364;14559250;12960423;12477932;12107413;11733189;11162453;10358057;16189514;19913121;20628086;19060904;19430483;20018811;20541774;19805740;21423001;21728994;21139048;18029348 57085 D6RB40;D6RBK6;Q6RW13 ABBA01003057;ABBA01003058;AF165187;AF312374;AI741916;AK290042;AL953897;AMYH01000258;AY488088;BC011946;BC017328;BE782705;BI117521;BQ672962;CA866314;CD674964;CH471130;NM_001040194;NM_001040195;NM_001040196;NM_001040197;NM_020350 AAF89547;AAH17328;AAL26806;AAR25556;ABM83545;ABM86785;BAF82731;EAW71702;EAW71703;EAW71704;EAW71705;NP_001035284;NP_001035285;NP_001035286;NP_001035287;NP_065083;Q6RW13 Hs.464438 2123231;2216998 AGTRAP_3661;SHGC-32094 ATRAP;MGC29646 AT1 receptor-associated protein;ATI receptor-associated protein;OTTHUMP00000002269;OTTHUMP00000002270;OTTHUMP00000002271;OTTHUMP00000002272;OTTHUMP00000221109;OTTHUMP00000221110;OTTHUMP00000221111;angiotensin II, type I receptor-associated protein;type-1 angiotensin II receptor-associated protein APPROVED protein-coding ENSG00000177674 13539 16379 608729 REVIEWED 619558 AGTR2 angiotensin II receptor, type 2 The protein encoded by this gene belongs to the G-protein coupled receptor 1 family, and functions as a receptor for angiotensin II. It is an intergral membrane protein that is highly expressed in fetus, but scantily in adult tissues, except brain, adrenal medulla, and atretic ovary. This receptor has been shown to mediate programmed cell death and this apoptotic function may play an important role in developmental biology and pathophysiology. Mutations in this gene are been associated with X-linked mental retardation. [provided by RefSeq, Jan 2010] X X q22-q23 115215986 115220253 + 115301958 115306225 + 1566502;1581855;1580863;1581825;1582118;1582124;1300276;1300274;1300275;2313550;2313551;2313554;2325641;5129169;5147457;5129175;5147454;5129179;6480464;6903848;6903849;6903850;6903863;6903868;6903284;6903853;6903855;6903857;6903860;6903861;6903866;6903882;6903847;6903859;6903843;6903844;6903851;6903873;6903867;6903870;6903900;6903283;6903875;6903845;6903846;6903874;6903872;1303381;6903280;6892717;6903865;6903372;6903905;6907045;7240710 14657020;15158138;10977869;16380540;11295571;12089445;7477267;10024874;18463192;18328310;15793237;11916627;21040717;19080339;21357516;18500976;21303825;18327089;16725227;16133060;12089373;18158356;20042458;15470205;15153562;14982483;12187255;12172324;11819209;20631980;18565281;12495295;19212419;15930094;22357959;21189405;22920387;9815151;20149750;22113494;19139720;18768398;22184331;22569153;2;21102591;21900645;11924718;19680135;19246705 19357319;12544508;8502225;18344519;17159079;17000928;17159080;15710780;10406457;15117835;7477266;7945336;19509012;19404281;19344625;19308748;19288324;19274051;19194560;19155782;19082699;19074441;19074439;19023273;18848837;18660489;18594540;18534055;18488444;18437528;18417209;18404604;18331441;18296263;18254975;18205097;18188697;18049304;17944121;17707359;17653210;17630322;17620959;17548686;17522061;17515833;17499413;17433630;17336987;17270098;17261659;17160213;16954165;16944335;16609364;16598200;16550310;16522324;16395664;16344560;16289034;16283672;16112405;16109806;16080803;15914614;15772651;15638358;15489334;15458433;15385810;15221785;15123706;15123577;15013333;15013322;15013293;14987254;14764974;14627490;14598163;12925562;12924622;12911547;12881481;12800945;12746399;12660887;12579398;12531525;12522467;12477932;12464615;12453540;12133421;11880254;11819093;11709400;11544438;11459796;11446495;11324803;11200871;11153734;11081769;11055978;11053482;10710290;9884335;9099917;8957548;8663053;8552595;8185599;7999093;7790004;7733925;7719706;1550596;11733189;19759061;19779016;19861345;19861347;19861349;19861351;19861352;19861353;17393691;18240029;19397700;19524223;19578796;19628789;19716087;19781541;19820429;19948975;19959718;19959996;19996275;20237496;20300066;20371166;20467270;20486282;15123239;22869520;20837730;20304486;20181281;18059164;2834384;19913121;20592051;20606419;20628086;18577758;20844184;21602797;20732682;20714875;22710646;21163866;21740964;21850060;21436209;21937042;22162314;21671168;23122839;22987376 186 AAB34100;P50052;Q6UVH2 ABBA01049276;ABBA01049277;AI911273;AK313927;AL732602;AMYH01022870;AY322542;AY324607;AY536522;BC095504;CH471234;CR541969;CR738498;DA538369;L34579;NG_016326;NM_000686;U10273;U15592;U16957;U20860;U27478;X87722;X87723 AAA50762;AAA61794;AAA67753;AAA84900;AAA85851;AAA98990;AAB34100;AAH95504;AAP72969;AAP84355;AAS45437;BAG36648;CAA61022;CAG46767;EAW51502;NP_000677;P50052 Hs.405348 1743601;1792538;2122040;2218200;5106122 AGTR2;AGTR2__4208;GDB:360300;PMC153509P1;STS-U20860 AT2;ATGR2;MRX88 OTTHUMP00000023878;angiotensin II type-2 receptor;type-2 angiotensin II receptor APPROVED protein-coding ENSG00000180772 338 02071 300034;300852 REVIEWED 1605826 AHCTF1P1 AT hook containing transcription factor 1 pseudogene 1 2 2 2 q24.2 155965950 155974538 - 162065281 162072656 - 162355678 162364313 - 14702039;21963094;21628590 285116 Q96M44 ABBA01004887;AC009487;AK057394;AMYH01011213;NR_077058 BAB71468 Hs.470435 1676802 RH26330 AHCTF1P;ELYS-like APPROVED pseudo 24620 VALIDATED 7207657 AHCYP1 adenosylhomocysteinase pseudogene 1 10 q11.22 47594379 47595653 + 340844 ABBA01033529;AL450388;AMYH01023485;NG_022175 pseudo 44993 INFERRED 7205519 AHCYP2 adenosylhomocysteinase pseudogene 2 9 q33.2 123482951 123484241 + 392387 ABBA01016245;AL138836;AMYH01021688;NG_021677 pseudo 44994 INFERRED 7205583 AHCYP5 adenosylhomocysteinase pseudogene 5 2 q32.3 196447517 196448755 - 391470 ABBA01062446;AC064834;AMYH01011380;NG_021544 pseudo 44997 INFERRED 7205585 AHCYP6 adenosylhomocysteinase pseudogene 6 11 q14 85568044 85570200 + 100419714 ABBA01017332;AP000974;NG_024541 pseudo 44998 INFERRED 7207589 AHCYP3 adenosylhomocysteinase pseudogene 3 2 q12.1 105011461 105012738 - 402093 ABBA01073881;AC068535;AMYH01010831;NG_021515 pseudo 44995 INFERRED 7205584 AHCYP4 adenosylhomocysteinase pseudogene 4 2 q22.1 139659006 139660317 - 129560 ABBA01028117;AC023468;AMYH01011132;NG_021526 pseudo 44996 INFERRED 1349401 AHDS Allan-Herndon-Dudley syndrome 193 345 7205587 AHCYP7 adenosylhomocysteinase pseudogene 7 15 q21.2 50709580 50710881 + 645486 ABBA01039113;AC012170;AMYH01006636;NG_022129 1668555;1697408;1770867;1851542;1853907;2114737;2170006;7183682 D15S1088;D15S1309;D15S957;D15S960;RH102204;RH78221;SHGC-57070 pseudo 44999 INFERRED 1603679 AHCTF1 AT hook containing transcription factor 1 1 1 1 q44 220298863 220391306 - 245069023 245148302 - 247002400 247094726 - 6480464 17098863;17081983;16964243;16565220;15489334;14702039;12477932;11952839;18029348;19454010;22955883;19471022;21963094;19596686;20360068;21628590;22586326;22505724;22555603 25909 C9J5C5;H7C4S1;Q8WYP5 AB059277;ABBA01031773;ABBA01031774;AC113174;AF173978;AK091364;AK091510;AK095398;AK122844;AL080144;AL832213;AL833491;AMYH01001907;AY157619;BC012307;BC030564;BC047361;CH471148;NM_015446 AAH12307;AAI56055;AAN65622;AAQ13621;BAB78516;BAG52342;BAG53044;BAG53757;CAB45737;EAW77165;EAW77166;EAW77167;EAW77168;NP_056261;Q8WYP5 Hs.300887 1676802;1715483 RH120984;RH26330 DKFZp434N093;ELYS;MST108;MSTP108;TMBS62 ELYS transcription factor like protein TMBS62;ELYS transcription factor-like protein TMBS62;OTTHUMP00000038418;OTTHUMP00000038419;embryonic large molecule derived from yolk sac;protein ELYS;putative AT-hook-containing transcription factor 1 protein-coding ENSG00000153207 24618 09935 610853 VALIDATED 1603658 AHDC1 AT hook, DNA binding motif, containing 1 1 1 1 p36.13 26256416 26325804 - 27733343 27802730 - 27860756 27930143 - 6480464 16713569;15146197;12477932;9110174;8619474;21832049;22558309;21139048;20562864 27245 Q5TGY3 ABBA01034979;ABBA01034980;ABBA01034981;ABBA01034982;ABBA01034983;AK125431;AL031729;AMYH01000422;AMYH01000423;BC002677;BC014394;BC064935;BM989685;CH471059;CN371147;NM_001029882;U79259 AAB50205;AAH02677;AAH14394;AAI52908;BAC86163;EAX07751;EAX07752;NP_001025053;Q5TGY3 Hs.469280 1648409;1671424;1692666;1733086;5092898 A009C01;AL034084;D1S1421;G32400;SHGC-33185 CL23945;DJ159A19.3;RP1-159A19.1 AT-hook DNA-binding motif-containing protein 1;OTTHUMP00000003476;OTTHUMP00000003600;a.T hook DNA-binding motif-containing protein 1 protein-coding ENSG00000126705 25230 10885 VALIDATED 1320280 AHCYL1 adenosylhomocysteinase-like 1 The protein encoded by this gene interacts with inositol 1,4,5-trisphosphate receptor, type 1 and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 1 1 p13.2 110328831 110367887 + 110527387 110566364 + 1580863;6480464;6907045 19220705;16769890;16754674;16710414;15951569;15489334;12878157;12525476;12477932;11904675;10070969;9110174;8619474;7782076;19019082;21242704;19615732;20584908;21317537;22863883;22939629;22990118;19322201;21139048;21906983;22012331;22826361;21956116;22505724 10768 O43865;Q9UI76 AA427939;AA865152;ABBA01068385;AF035319;AF090905;AF315687;AK131563;AK303690;AK308080;AK313392;AK316110;AL049954;AL772411;AMYH01000940;BC003631;BC007576;BC010681;BC016942;BC065254;BC095476;BC110896;BC111563;BK005417;BK005418;BQ774807;CF456195;CH471122;DC328766;DC329490;FB775494;NG_029182;NM_001242673;NM_001242674;NM_001242675;NM_001242676;NM_006621;U82761 AAB88189;AAC01960;AAF24028;AAH03631;AAH07576;AAH10681;AAH16942;AAH65254;AAH95476;AAI10897;AAI11564;AAI40415;AAI46493;AAL26869;ABM81947;ABM85127;ACE86597;ACE87278;BAD18696;BAG36190;BAG64680;BAH14481;CAB43223;CAH70965;CAH70966;CAV30704;DAA05762;DAA05763;EAW56422;EAW56423;EAW56424;EAW56425;EAW56426;EAW56427;NP_001229602;NP_001229603;NP_001229604;NP_001229605;NP_006612;O43865 Hs.743973 1688388;2153368;2161112;5113230 RH101839;RH65027;RH93356;SHGC-75272 DCAL;IRBIT;PRO0233;XPVKONA DC-expressed AHCY-like molecule;OTTHUMP00000013376;OTTHUMP00000013377;S-adenosyl homocysteine hydrolase homolog;S-adenosyl-L-homocysteine hydrolase 2;S-adenosylhomocysteine hydrolase-like 1;S-adenosylhomocysteine hydrolase-like protein 1;adoHcyase 2;dendritic cell expressed AHCY-like protein;inositol 1,4,5-trisphosphate receptor-binding protein;putative adenosylhomocysteinase 2 APPROVED protein-coding ENSG00000168710 344 07613 607826 REVIEWED 731745 AHCY adenosylhomocysteinase S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] 20 20 q11.22 32331737 32354784 - 32868071 32899608 - 1598896;1598897;1300368;1598898;730275;1601153;1580863;1300048;6480464;6907045;7242932;7240710;7242425;7242426 12208805;11575573;15024124;11123369;11741948;16815886;2292587;23073625;20814827 21110914;2596825;17353931;19161160;19048631;18978678;18769049;18713839;18683034;18635682;18522500;18427977;18393535;18211827;17892301;22939629;17688412;17447732;17172447;17164794;17097637;17081065;15489334;15241484;14702039;12590576;12477932;12369977;12069606;12063172;11780052;10933798;9586999;7786017;7608178;7079734;6586634;6580258;2574561;715439;309884;21145461;21319273;16344560;19619139;19683694;20392501;20458436;23079506;20308539;19913121;20615890;20628086;20634891;22863883;20391533;15161933;18781797;20360068;21081666;21139048;21890473;21906983;21963094;21987572;16196087;19135240;21988832;22304920;22323290;23000965;22023331;21044950;21628590;21853274;22190034;22505724 191 P23526 ABBA01019205;ABBA01019206;AK097610;AK290422;AK300014;AK309204;AK316180;AL356299;AMYH01011862;BC010018;BC011606;BC114924;BE785593;BT006697;CH471077;DB043400;DC301059;DC413105;M61831;M61832;NG_012630;NM_000687;NM_001161766 AAA51681;AAA51682;AAH10018;AAH11606;AAI14925;AAP35343;ABM82627;ABM84656;ABM86323;ABM92186;BAF83111;BAG53495;BAG61829;BAH14551;EAW76279;EAW76280;EAW76281;NP_000678;NP_001155238;P23526 Hs.388004 1654636;1695036;1854331;2109027;2125055;5117174 AHCY__4267;D20S1115;G44732;GDB:451613;STS-M61832;STS-R64115 SAHH;adoHcyase OTTHUMP00000030684;S-adenosyl-L-homocysteine hydrolase;S-adenosylhomocysteine hydrolase;adenosylhomocysteinase;adoHcyase APPROVED protein-coding ENSG00000101444 343 01621 180960;613752 REVIEWED 1601771 AHCYL2 adenosylhomocysteinase-like 2 The protein encoded by this gene acts as a homotetramer and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 7 7 7 q32.1 123661585 123866795 + 128652100 128857288 + 128864855 129070052 + 6480464;6907045 16865262;16344560;15489334;12477932;10048485;20694014;19615732;21139048;21906983;22228203;22890011;22505724 23382 C9JZV7;C9K0S0;D7UEQ7;F8W7N8;H0Y8B3;Q96HN2 AACC02000035;AB020635;ABBA01057635;ABBA01057636;ABBA01057637;ABBA01057638;ABBA01057639;ABBA01057640;ABBA01057641;AC009244;AC011005;AC083866;AC093149;AK025372;AK295851;AK316073;AMYH01017929;BC008349;BC024325;BG700017;CH236950;CH471070;DA429263;DA890615;NG_029180;NM_001130720;NM_001130722;NM_001130723;NM_015328 AAH08349;AAH24325;BAA74851;BAG58657;BAH14444;EAW83716;EAW83717;NP_001124192;NP_001124194;NP_001124195;NP_056143;Q96HN2 Hs.600789 1646958;1659537;1674057;1676748;1680393;1739195;1849864;2139049;2139105;2154162;2174629 D7S1541;D7S2962;D7S2964;D9S1647;GDB:1318262;IB809;RH27244;RH66343;RH69923;SHGC-31135;WI-20538 ADOHCYASE3;FLJ21719;KIAA0828 OTTHUMP00000212356;OTTHUMP00000212357;OTTHUMP00000212358;OTTHUMP00000212359;OTTHUMP00000214495;S-adenosyl-L-homocysteine hydrolase 3;S-adenosylhomocysteine hydrolase-like 2;putative adenosylhomocysteinase 3 APPROVED protein-coding ENSG00000158467 22204 11113 REVIEWED 1345625 AHNAK AHNAK nucleoprotein 11 11 q12.2 61957592 62070908 - 62201016 62314332 - 1580863;6480464 16712791;21319273;1608957;18334579;16984913;16582619;16319140;15177040;15033986;15001564;14702039;12477932;12153988;11746675;11535620;11312263;10737800;7987395;7789175;14625392;15607035;17207965;16417406;20029029;19394292;22939629;21182205;22863883;22937058;23182705;19471022;22057634;19596686;20360068;21940993;21987572;21139048;21890473;21906983;22586326;16009940;21044950;23144326;19738201;19805454;21963094;22304920;23000965;23275167;19380743;23409183;22940583 79026 B4DTV0;E9PJC6;E9PJZ0;E9PKR9;E9PLK4;E9PQE3;Q09666;Q9BVU3 ABBA01003224;ABBA01003225;ABBA01003226;ABBA01003227;ABBA01003228;AK091153;AK095346;AK128868;AK300376;AMYH01003688;AMYH01003689;AMYH01003690;AP001363;AP003064;BC000926;BC012477;BC017483;BC128460;BE873999;BF094607;BF761997;BQ448690;CB129722;CH471076;CN482151;M80899;M80902;NM_001620;NM_024060;X74818 AAA69898;AAA69899;AAH00926;AAH12477;AAI28461;ADQ32850;ADZ15763;BAC03596;BAC87652;BAG62112;CAA52817;EAW74019;NP_001611;NP_076965;Q09666 Hs.502756 1656978;1736158;1850617;1855179;1856398;2153100 AHNAK;D11S2237E;RH17740;RH46547;RH66240;SHGC-15247 AHNAKRS;MGC5395 AHNAK-related;OTTHUMP00000236155;OTTHUMP00000236448;OTTHUMP00000236450;OTTHUMP00000236451;ahnak nucleoprotein (desmoyokin);desmoyokin;neuroblast differentiation-associated protein AHNAK protein-coding ENSG00000124942 347 14684 103390 VALIDATED 1320178 AHNAK2 AHNAK nucleoprotein 2 14 14 14 q32.33 85457805 85498909 - 104474636 104515739 - 105403591 105444694 - 6480464 15007166;14702039;12477932;22863883;22939629;21139048;21906983 113146 Q8N3G4 AB095939;ABBA01008850;AK094143;AK095704;AK126472;AL512802;AL834367;AMYH01006071;BC004283;BC011859;BC033372;BC049216;BC090889;BC144467;BX537923;BX538040;BX538106;BX538133;NM_138420 AAH11859;AAH33372;AAH49216;AAH90889;BAC23115;CAD39030;CAD97904;CAD97981;CAD98019;CAD98034;NP_612429;Q8IVF2 Hs.441783 1689704;1776376;1850985;2139634 NIB978;RH75636;SGC34658;WI-3672 C14orf78;KIAA2019 OTTHUMP00000244370;chromosome 14 open reading frame 78;protein AHNAK2 protein-coding ENSG00000185567 20125 608570 VALIDATED 1348620 AHI1 Abelson helper integration site 1 This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] 6 6 q23.3 135646817 135860576 - 135605110 135818903 - 1598905;6480464;7240710 16155189 14702039;19342780;18936234;18785627;18782849;18633336;18227995;18054307;17668382;17473831;17409309;16773125;16453322;16381901;16240161;15489336;15489334;15467982;15322546;15169551;15060101;14751929;14574404;12477932;12186888;11230166;11076863;8125298;22745667;20452750;20683928;20580033;20805890;19191019;20045148;20071346;20371615;20379614;21068128;19379585;23028714;22183070;22123816;21833088;22285701;19322201;20301500;22623184;23171462;23446755;23532844 54806 E9PI51;E9PML3;G8JLN6;H0Y343;H0YDL1;H0YE01;H0YEF1;Q8N157;Q8NER0;Q9NQN3 ABBA01025840;ABBA01025841;AI300295;AJ459824;AJ459825;AJ606362;AK000076;AK024085;AK092262;AK225210;AL023693;AL049552;AL133544;AL136797;AMYH01016693;AMYH01016694;AMYH01016695;AY133243;BC015019;BC029417;BC039559;BC050607;BC065712;BC094800;BX643029;CH471051;DQ090887;NG_008643;NM_001134830;NM_001134831;NM_001134832;NM_017651 AAH29417;AAH65712;AAH94800;AAM94177;AAY99645;BAA90929;BAB14820;BAC03840;CAB66731;CAD30871;CAD30872;CAE54481;CAL38370;EAW47962;EAW47963;EAW47964;EAW47965;EAW47966;NP_001128302;NP_001128303;NP_001128304;NP_060121;Q8N157 Hs.386684 1645348;1648340;1654108;1657221;1658947;1679517;1700848;1714105;2125389;2148750;2172692;2186160 A007F37;AFMa074zg9;AL031217;AL031220;RH104050;RH119659;RH46754;RH69238;RH80542;SHGC-36080;SHGC-54149;WI-15947 AHI-1;DKFZp686J1653;FLJ14023;FLJ20069;JBTS3;ORF1;dJ71N10.1 OTTHUMP00000017263;OTTHUMP00000017265;OTTHUMP00000234456;OTTHUMP00000234654;OTTHUMP00000234656;abelson helper integration site;abelson helper integration site 1 protein homolog;contatins SH3 and WD40 domains;jouberin APPROVED protein-coding ENSG00000135541 21575 10597 608629;608894 REVIEWED 1316203 AHSA2 AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast) 2 2 2 p15 61249018 61259145 + 61258325 61267562 + 61404555 61414686 + 6480464 15570572;14739935;14702039;12604615;12504007;12477932;20190752;23128233 130872 B8ZZA7;Q719I0 AA856729;ABBA01075349;AC016747;AF542548;AI636364;AK091998;AK092505;AK092817;AK123709;AL833813;AMYH01010380;BC030998;BC050395;BC063789;BC113671;BC117278;CH471053;NM_152392 AAI13672;AAI17279;AAQ09531;AAY14686;ADR82832;BAG52613;CAD38676;EAX00002;EAX00003;EAX00004;EAX00005;EAX00006;EAX00007;EAX00008;EAX00009;NP_689605;Q719I0 Hs.655602;Hs.732993 1680645;1685890;1740171;1849487;2114978;2115231;2181342 D1S2533;D2S2701;RH16454;RH68436;RH80267;RH93700;SHGC-34452 DKFZp564C236;FLJ34679;FLJ41715;Hch1 OTTHUMP00000159808;OTTHUMP00000159809;OTTHUMP00000202097;OTTHUMP00000202098;activator of 90 kDa heat shock protein ATPase homolog 2 protein-coding ENSG00000173209 20437 16479 VALIDATED 1354128 AIC Aicardi syndrome 7240710 192 350 731071 AHR aryl hydrocarbon receptor This gene encodes a ligand-activated transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Its ligands included a variety of aromatic hydrocarbons. [provided by RefSeq, Jul 2008] 7 7 p15 17304832 17352299 + 17338276 17385775 + 1580863;1300278;1300277;634668;2325664;6480464 12107286;10639156;12586752;12203118 8794892;19340314;9079689;10395741;11782478;12213388;7961644;19535631;19465936;19463884;19460354;19415745;19380484;19360915;19358281;19356098;19356061;20878756;19333233;19255421;19158084;19138996;19114668;19034627;19027718;19018768;19013013;18990750;18923163;18818557;18708364;18708059;18677463;18676680;18636124;18632753;18628420;18524851;18515748;18510611;18483242;18433817;18359762;18358233;18303622;18302886;18259752;18065768;18059014;18037991;17963696;17900530;17823304;17823287;17642299;17596880;17559847;17552871;17511620;17502624;17498780;17490615;17429315;17392787;17311112;17244640;17223712;17200336;17174437;17140257;17053541;16985033;16985026;16952353;16922649;16891617;16762319;16675542;16619036;16538170;16481407;16480812;16403814;16337337;16257957;16153594;16109480;16103451;16091746;16084889;15964790;15917307;15897893;15863442;15837795;15774926;15758562;15728486;15641800;15572374;15499202;15489334;15474075;15342792;15190133;15123621;15069065;15026081;14985336;14978034;14973392;14634838;14560034;14550747;12917420;12853948;12852830;12837759;12774124;12730383;12690205;12637498;12612060;12597446;12592376;12566446;12520072;12480531;12477932;12237327;12215427;12213390;12200463;12181450;12139968;12065584;12024042;11866883;11835227;11805098;11768231;11756572;11742002;11698344;11689007;11505220;11425848;11408954;11393538;11259615;11259606;11207035;11114727;11032419;11013261;10999956;10986286;10903152;10739168;10620335;10497241;10471301;10428779;10048154;9972449;9837941;9787404;9759704;9712901;9446600;9170146;9111057;9083006;8393992;8384309;8246913;8125016;8074712;7961671;7883760;7716743;7628454;7566098;7550366;7515333;7488247;9887096;9704006;21262915;21441140;15681594;21357676;20823264;21490707;20140206;20511231;21316925;11259609;17209571;19170196;19371443;19447902;19536146;19556287;19574409;19592671;19625176;19690180;19692168;19726680;19736056;19755661;19789301;19815066;19821039;19917880;19941898;20000589;20032195;20044593;20053997;20064835;20146706;20237496;20301892;20453000;20395535;20130088;20460431;18029348;21081473;20354149;20804740;20171126;20401977;20973933;20634891;20676092;20619336;21462134;19538249;21072210;21205295;21374063;20709182;22539616;21486221;21600206;21640702;22553215;21689841;23022626;10644764;21627536;22273977;22854411;19390533;21613234;21742528;22053597;22596188;21828262;21804081;21976023;19651607;21693764;21906983;21987572;22628113;23030067;23382382;23419638;22296396;22052373;22123295;22071320;22235307;21878739;21886157;22495716;21996739;22649193;22138065;22311706;22361730;16582008;22728919;22759865;23614276;21963094;21988832;23228475;22903824;23141164;23430108;23229511;23317198;22761424;22495806;22840970;23037589;22754483 196 P35869 AA329775;AACC02000008;ABBA01056640;AC003075;AK307495;AMYH01017097;BC021696;BC069390;BC070080;BQ020427;BQ024331;BX505160;CH236948;CH471073;D16354;D31708;D38044;L19872;NM_001621;U28063;U28064;U28066 AAA16210;AAA92082;AAA92083;AAA92084;AAH69390;AAH70080;BAA03857;BAA07235;EAL24281;EAW93686;EAW93687;NP_001612;P35869 Hs.171189 1643974;1743443;1856150;2134956;2154202;2161845;2164706;2164708;2170781;5021872;5120478;7184439 A005Q15;AHR;D7S1643;D7S2777;G20414;GDB:335257;GDB:335259;RH17631;SHGC-57476;STS-AA031700;sY3084 bHLHe76 AH-receptor;OTTHUMP00000195583;OTTHUMP00000233987;ah receptor;aromatic hydrocarbon receptor;aryl hydrocarbon receptor;class E basic helix-loop-helix protein 76 APPROVED protein-coding ENSG00000106546 348 02596 600253 VALIDATED 1348641 AHRR aryl-hydrocarbon receptor repressor The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011] 5 5 p15.3 357291 491406 + 304291 438406 + 6480464 19501819;19380484;19251700;19137073;18676680;18632753;18565642;18172554;17980155;17890447;17559847;17513317;17244640;16344560;16084889;15758562;15474075;14702039;14672759;12777964;12477932;11835227;11423533;11393538;11181995;10574462;9887096;8889548;1070014;18029348;19170196;19625176;20237496;20378615;20453000;17949687;21602797;16751776;22232023;22337624;23583445;22017422;23168330;22951721;23070629;22952704 57491 A9YTQ3;D6RE68;D6RF73;E5RFG4;E5RGQ2;E5RHE0;G3V143;H0YA43 AB033060;ABBA01034257;ABBA01034258;ABBA01034259;ABBA01034260;ABBA01034261;AC010442;AC118458;AF293629;AF293639;AK090508;AK127977;AK314472;AMYH01014822;AMYH01014823;AMYH01014824;AMYH01014825;AMYH01014826;BC035358;BC121047;BC121048;BC151852;BC152406;BM682431;BU738250;BX400426;CH471235;DA051156;DA863025;EU293605;NG_029834;NM_001242412;NM_020731 A9YTQ3;AAG33381;AAI51853;AAI52407;AAI60162;ABX89616;BAA86548;EAW50992;NP_001229341;NP_065782 Hs.50823 1334912;1654838;1682485;1735562;1739581;1740477;1740511;1762689;1856526;2135802;2148154;2172752;2218202 AHRR__4268;D5S1680E;D5S1924E;D5S2273E;D5S2300E;D5S2509;D5S392;RH44696;RH47205;RH77958;SGC32312;SGC34338;SHGC-146482 AHH;AHHR;KIAA1234;MGC167813;MGC176630;bHLHe77 OTTHUMP00000221488;OTTHUMP00000221489;ahR repressor;aryl hydrocarbon hydroxylase regulator;aryl hydrocarbon receptor regulator;aryl hydrocarbon receptor repressor;arylhydrocarbon receptor repressor;class E basic helix-loop-helix protein 77;dioxin receptor repressor APPROVED protein-coding ENSG00000063438 346 07356 606517 REVIEWED 1345176 AIED Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) 7240710 198 351 300071;300476;300600 1346562 AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) 14 14 14 q24 57962942 57974371 + 76994155 77005568 + 77924373 77935815 + 1580863;6480464 21110914;12504007;17110338;16696853;15489334;12604615;12508121;12477932;11554768;11042152;10931946;17353931;21419342;20089831;18029348;20159553;20029029;22863883;21139048;21890473;21906983;22315411;18556464;21145461;22727666;21832049;22939629;22859491;19875381;22504172 10598 B4DUR9;G3V3W9;G3V438;H0YJ63;H0YJG6;H0YJG7;H0YJU2;O95433 ABBA01030647;AF111168;AF161440;AF164791;AJ243310;AK300766;AK313824;AMYH01005882;BC000321;BC007398;BG432594;CH471061;NM_012111 AAD09623;AAF29000;AAF80755;AAH00321;AAH07398;BAG36559;BAG62431;CAB45684;EAW81291;EAW81292;NP_036243;O95433 Hs.204041 1654355;1655388;1655686;1683613;1725675;1772739 A001T10;G35866;G35953;G62105;RH98219;WI-15374 AHA1;C14orf3;p38 OTTHUMP00000246371;OTTHUMP00000246372;OTTHUMP00000246373;OTTHUMP00000246375;activator of 90 kDa heat shock protein ATPase homolog 1 protein-coding ENSG00000100591 1189 09768 608466 VALIDATED 736027 AHSG alpha-2-HS-glycoprotein Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized by hepatocytes. The AHSG molecule consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several functions, such as endocytosis, brain development and the formation of bone tissue. The protein is commonly present in the cortical plate of the immature cerebral cortex and bone marrow hemopoietic matrix, and it has therefore been postulated that it participates in the development of the tissues. However, its exact significance is still obscure. [provided by RefSeq, Jul 2008] 3 3 q27 187813544 187821801 + 186330850 186339107 + 1625792;1625793;1625794;1580863;2313813;2313810;2313812;2313814;2313809;2313811;6480464;6484113 17062776;17011519;16567827;15698447;19029462;18316360;12153747;19228823;18633113 21253869;21958193;22511752;12203945;17474147;12773197;12725640;12642050;14718574;11922920;19453261;19358088;19194829;19151998;19110009;19031279;19016589;18728159;18612115;18364352;18337634;18335040;18334823;18286307;18281421;18089450;18085392;18065755;17960182;17889958;17882149;17851232;17702860;17611637;17557141;17318070;17303000;17010978;16968979;16898488;16740002;16567568;16335952;16318278;16117875;16113307;16046317;16024912;16002217;15931001;15917161;15882283;15806395;15599699;15592877;15589849;15489334;14760718;14667137;12914574;12754519;12665801;12556469;12477932;12207096;12071714;11788587;11439093;11415520;10947975;10550518;9322749;9003486;8940198;7906861;7736783;6833285;6803836;3944104;3924066;3474608;3356172;2760061;2645941;2054237;12140560;22855337;22619360;20929991;20946008;20436350;20374388;19478814;19602903;19615685;19672022;19681840;19857655;19857676;19896717;19910501;19931899;20015522;20019453;20031641;20091488;20150538;20299368;20379614;20453496;20533272;20575466;20576822;20543523;19913121;20605840;20628086;20806899;20546343;17207965;20660040;22387701;22939629;19862540;20713686;20926473;20956534;21085476;21123340;20199782;20964498;21543017;20496312;21659653;21310413;22815691;21521338;21521346;21904596;20501379;20360068;21804488;20963400;22703881;18624398;21383631;22079093;21893974;22024217;22377528;22489108;22170794;21953030;22425942;22101880;22554599;21613794;22196954;17116465;22546644;23056292;15174051;22304920;22820893;23190703;22115341;22685600;22980907;23066960;21103663;23024326 197 AAB29984;C9JV77;P02765 AB038689;ABBA01058388;AC068631;AK292751;AK298447;AK303754;AK312969;AMYH01013734;BC048198;BC052590;CH471052;D67012;D67013;DC362553;M16961;NG_011436;NM_001622 AAA51683;AAB29984;AAH48198;AAH52590;ADQ32184;BAA22651;BAA22652;BAA92189;BAF85440;BAG35808;BAH12792;BAH14038;EAW78187;EAW78188;EAW78189;NP_001613;P02765 Hs.324746 1661672;1662788;1669593;1680739;1686490;1741419;1769930;1774083;1774085;1847939;2151033;2164432;2179377 D3S3887;D3S3973;GDB:181194;HUM00TW154;RH47182;RH79056;RH80456;SHGC-2497;SHGC-36465;SHGC-77611;SHGC-79;STS-M16961;STS-T96520 A2HS;AHS;FETUA;HSGA OTTHUMP00000210158;OTTHUMP00000210159;alpha-2-HS-glycoprotein;alpha-2-Z-globulin;ba-alpha-2-glycoprotein;fetuin-A APPROVED protein-coding ENSG00000145192 349 00727 138680 REVIEWED 7205112 AIFM1P1 apoptosis-inducing factor, mitochondrion-associated, 1 pseudogene 1 10 p12.31 19024604 19027758 + 645120 ABBA01034534;AL512641;AMYH01002156;NG_021350 pseudo 44884 INFERRED 1315507 AHSP alpha hemoglobin stabilizing protein 16 16 p11.2 31446704 31447625 + 31539203 31540124 + 1580863;6480464 12066189;18704762;18676996;18179859;18166800;17874450;17194704;16339656;16189514;16186125;15489334;15220346;14715623;14667971;12477932;12192002;11231637;11042152;16169070;22079025;22298770;20627634;20815047;15550245;18347943;19349619;19482015;19706593;20036801;20371604;21232177;17192395;22145905;21988832;23264625 51327 H3BSK6;Q549J4;Q9NZD4 ABBA01042096;AC106730;AF112995;AF147435;AF208865;AF364517;AF485325;AMYH01007509;AY072612;BC035842;CH471192;H94920;NM_016633 AAF64279;AAH35842;AAK50856;AAL82894;AAO49381;AAP97228;ABM81851;ABM85002;EAW52118;NP_057717;Q9NZD4 Hs.274309 1682297;1682706;1725623;2108063 ERAF_8040;G62026;RH68152;RH91101 EDRF;ERAF OTTHUMP00000163295;alpha hemoglobin stabilising protein;alpha-hemoglobin-stabilizing protein;erythroid associated factor;erythroid differentiation associated factor;erythroid differentiation-related factor;erythroid-associated factor APPROVED protein-coding ENSG00000169877 18075 12052 605821 VALIDATED 1347771 AICDA activation-induced cytidine deaminase This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. The protein is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Feb 2009] 12 12 p13 8646029 8656706 - 8754762 8765442 - 1580863;1598906;6480464;6484113;6907045;7240710 11007475 18722174;10950930;19443686;19412186;19380635;19363484;19336552;19309412;19266080;19247692;19196959;19139166;19023113;19017972;18940926;18776814;18772346;18760480;18757891;18417471;18391550;18390709;18329947;18306229;18213388;17878393;17638864;17485517;17161027;17132718;17066440;17060445;16999936;16785531;16705187;16624806;16541139;16439679;16387847;16381901;16314506;16269615;16122802;15949042;15944282;15814733;15613101;15593119;15489336;15489334;15448152;15372234;15371439;15304391;15252444;15195091;15182647;15148397;15087440;15061213;14990977;14536088;12973929;12928399;12873980;12855567;12799424;12715918;12683974;12651944;12521993;12511417;12477932;12202747;12114543;12097915;12011459;11823785;11544457;11256614;11112359;11076863;16580072;14769937;14551145;21133730;20491788;16251902;19057669;19561087;19573080;19575287;19578742;19667096;19703021;19732723;19734146;19741596;19773279;19859091;19898425;19911124;19966806;20027182;20048284;20118283;20233972;20237496;20237507;20373075;20379614;20117026;20338830;20855884;20864035;20927319;20729863;20637757;20974684;21041454;21048031;20507984;21109971;21268017;21832049;23008333;15634916;21255825;20878190;21385873;22992148;22962683;22798497;23017209;21290192;21700883;21659520;21570118;22034886;22080610;23476051;22042974;22391874;21831295;21984922;22234692;19953087;22168746;22308462;22198384;22446380;22492685;22363466;23133680;22466889;23166356;23589568;22469133;23071276;23263985;23341589;23212122;22899287;23190037;23277564;22205734;22715099;22843687;23198547 57379 H0YFL3;H0YFP1;H0YGF6;Q546Y9;Q6QJ81;Q7Z599;Q9GZX7 AB040430;AB040431;AB092577;ABBA01012245;AC092184;AF529815;AF529816;AF529817;AF529818;AF529819;AF529820;AF529821;AF529822;AF529823;AF529824;AF529825;AF529826;AF529827;AJ577811;AMYH01004239;AY534975;AY536516;AY536517;AY541058;AY748364;BC006296;BT007402;BX402063;CH471116;CS056120;DQ431660;HH794616;NG_011588;NM_020661 AAH06296;AAM95402;AAM95403;AAM95404;AAM95405;AAM95406;AAM95407;AAM95408;AAM95409;AAM95410;AAM95411;AAM95412;AAM95413;AAM95414;AAP36066;AAS90604;AAS92920;AAS92921;AAS98257;AAU95780;ABD92700;ABM83915;ABM87236;BAB12720;BAB12721;BAC66114;CAE12261;CAI75242;CAL38484;CBX87165;EAW88615;NP_065712;Q9GZX7 Hs.149342 1699712 RH103461 AID;ARP2;CDA2;HIGM2 OTTHUMP00000239182;OTTHUMP00000239185;OTTHUMP00000239186;activation-induced cytidine deaminase;cytidine aminohydrolase;integrated into Burkitt's lymphoma cell line Ramos;single-stranded DNA cytosine deaminase APPROVED protein-coding ENSG00000111732 13203 05585 605257;605258 REVIEWED 1603969 AIDA axin interactor, dorsalization associated 1 1 1 q41 196060430 196105032 - 220907978 220952487 - 222841355 222885864 - 6480464 17681137;16344560;14702039;12477932;9110174;8619474;21832049;21900206 64853 F5H715;Q96BJ3 ABBA01048046;AF131838;AK022868;AK289865;AK301870;AL392172;AL592148;AL833718;AMYH01001747;AMYH01001748;BC015535;BC043142;BC067805;BC171848;BG705886;CH471059;DA483113;NM_022831 AAH15535;AAH43142;AAH67805;AAI71848;BAB14281;BAF82554;BAH13571;CAH56257;EAX06366;NP_073742;Q96BJ3 Hs.156625;Hs.534965 1655041;1670094;1680507;1692636;1717879;2117623;2131929;2140001;2140003;2144282;5016183;5022158;5124635 A005Z29;AL010083;AL033945;Cda0qg07;D13S918;D1S2190;D1S2529;G20628;G59749;RH122771;RH98227;SHGC-59595;SHGC-76398 C1orf80;FLJ12806;FLJ32421;RP11-378J18.7 OTTHUMP00000035773;OTTHUMP00000035774;axin interaction partner and dorsalization antagonist;axin interactor, dorsalization-associated protein protein-coding ENSG00000186063 25761 07798 612375 VALIDATED 1312901 AIF1L allograft inflammatory factor 1-like 9 9 9 q34.13-q34.3 104510955 104537611 + 132961733 132988360 + 133971863 133998539 + 737633;6480464 12477932 11256614;18699778;16381901;15489336;15489334;15164053;14702039;12975309;11230166;11076863;8889548;19322201;16344560;20237496;20360068;21890473 83543 A6PVM9;F5GYC9;H7C605;Q5JUP1;Q5JUP3;Q9BQI0 ABBA01012077;ABBA01012078;AK022845;AK027181;AK057789;AK091912;AK128526;AK300473;AK314600;AL136566;AL157938;AL833896;AMYH01021776;AY359067;BC009826;BC021253;BI766795;BM975905;CH471090;DA285481;NM_001185095;NM_001185096;NM_031426;NR_033701 AAH21253;AAQ89426;BAB14269;BAC03770;BAC87480;BAG37171;BAH13291;CAB66501;CAD38752;CAL37731;CAL38179;CAL38735;EAW87958;EAW87959;NP_001172024;NP_001172025;NP_113614;Q9BQI0 Hs.4944 1653070;1670738;1846532;1847022;2115163 A002O41;A007D17;HSC2JF042;IB671;RH18178 C9orf58;FLJ12783;IBA2;MGC29466 OTTHUMP00000022385;OTTHUMP00000022387;OTTHUMP00000022388;OTTHUMP00000022390;allograft inflammatory factor 1-like;ionized calcium binding adapter molecule 2;ionized calcium-binding adapter molecule 2 protein-coding ENSG00000126878 28904 12967 VALIDATED 735562 AIF1 allograft inflammatory factor 1 This gene is induced by cytokines and interferon. Its protein product is thought to be involved in negative regulation of growth of vascular smooth muscle cells, which contributes to the anti-inflammatory response to vessel wall trauma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 6 6 p21.3 31691012 31692777 + 31582994 31584798 + 1580863;2313020;2313027;2313032;2313037;2313043;2313025;2313026;2313038;2313039;2313199;2313033;2313024;2313029;2313041;2313021;2313022;2313023;2313028;2313030;2313034;2313035;2313036;2313040;2313042;2313045;6480464 19520144;19020040;18301954;17158026;9391121;19053043;10683518;17035944;16635480;18987644;18204784;19070908;18931666;16150122;19447505;19246105;19084047;19010395;18585922;18186080;17178407;16500929;15710454;16340083 9614071;8912632;19204726;19079260;18835879;18816612;18787073;18721278;18341653;17907195;17533487;17522098;17498268;17073733;17011575;17010532;16868985;16291819;16049345;15922740;15784173;15489334;15117732;14756805;14656967;14574404;12887599;12714565;12559634;12477932;11943136;11500035;10202016;8629302;8499947;7769138;20662065;18699778;19745784;19851445;20237496;20587610;20855536;21040744;21168672;20850992;21890473;11557666;22116621;21509525;21720444;22225958;22106834;23221708;22505724;22560794;22936669 199 I3WTX1;P55008;Q4V347;Q5STX8 ABBA01038082;ABBA01038083;AF088038;AF129756;AF299327;AF299329;AK290771;AL662801;AL662847;AL805934;AMYH01016217;BA000025;BC009474;BX248305;CB215777;CD521003;CH471081;CR542153;CR753892;CR759761;D86438;DB502939;EF070981;EF070982;EF070983;JQ782414;JQ782415;NM_001623;NM_004847;NM_032955;U19713;U49392;U95213;Y14768 AAA92457;AAB05003;AAC24422;AAD18087;AAG39110;AAG39112;AAH09474;ABK35646;ABK35647;ACE87076;ACE87756;AFL46387;AFL46388;BAA13088;BAB63392;BAF83460;CAA75060;CAA75061;CAA75062;CAG46950;EAX03442;EAX03443;EAX03444;EAX03445;EAX03446;EAX03447;NP_001614;NP_004838;NP_116573;P55008 Hs.76364 1753991;1795334;2122325 AIF1_696.2;D6S1864;SHGC-132025 AIF-1;IBA1;IRT-1;IRT1 OTTHUMP00000029354;OTTHUMP00000029356;OTTHUMP00000029358;allograft inflammatory factor 1;allograft inflammatory factor-1 splice variant Hara-1;interferon gamma responsive transcript;ionized calcium-binding adapter molecule 1;protein G1 APPROVED protein-coding ENSG00000204472 352 03496 601833 REVIEWED 1348070 AIH2 amelogenesis imperfecta 2, hypocalcification (autosomal dominant) 7240710 200 354 104500;204650 1346253 AIH3 amelogenesis imperfecta 3, hypomaturation or hypoplastic type 7240710 1358807 201 355 1312709 AIFM2 apoptosis-inducing factor, mitochondrion-associated, 2 This gene encodes a flavoprotein oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in colon cancer cells. [provided by RefSeq, Nov 2010] 10 10 q22.1 71542036 71562696 - 71872023 71892690 - 1580863;6480464 15958387;11980907;12135761;17711848;17347867;15489334;15273740;15164054;14702039;12477932;10441517;15342556;20877624;20635389;19270026;14741744;21139048;21890473;21906983;22623531 84883 Q9BRQ8 ABBA01019617;ABBA01019618;ABBA01019619;AF337957;AF506757;AI922797;AK027403;AK127353;AL731540;AMYH01002811;BC006121;BC023601;BG332787;BP331371;BX537621;CH471083;NM_001198696;NM_032797 AAH06121;AAH23601;AAL73229;AAM77596;ABM84018;ABM87363;BAB55089;BAG54492;CAH56481;EAW54376;NP_001185625;NP_116186;Q9BRQ8 Hs.650680 1676324;2126883 D10S2375;RH99102 AMID;DKFZp686L1298;PRG3;RP11-367H5.2 5430437E11Rik;OTTHUMP00000019739;OTTHUMP00000019740;apoptosis-inducing factor (AIF)-homologous mitochondrion-associated inducer of death;apoptosis-inducing factor 2;apoptosis-inducing factor homologous mitochondrion-associated inducer of death;p53-responsive gene 3 protein APPROVED protein-coding ENSG00000042286 21411 09797 605159 REVIEWED 1604991 AIFM3 apoptosis-inducing factor, mitochondrion-associated, 3 22 22 22 q11.21 4810763 4826996 + 19649434 19665649 + 21319418 21335649 + 6480464 15764604;19166416;16344560;16001080;15790807;15489334;15461802;14702039;12477932;18029348;18482256;20877624;21832049;22387901;22550867 150209 B7Z376;B7Z9S7;C9JPU8;C9K029;F8WC30;F8WFB6;Q96NN9 ABBA01015433;AC002470;AK055035;AK094844;AK126917;AK295581;AK316042;AMYH01012539;AY927574;AY927594;BC032485;BQ028401;CH471176;CR456342;DA396585;DB172173;NM_001018060;NM_001146288;NM_144704;NR_027464 AAH32485;ADZ15447;BAB70841;BAC04434;BAH12112;BAH14413;CAG30228;CAK54484;CAK54783;EAX02924;EAX02925;EAX02926;EAX02927;EAX02928;EAX02929;EAX02930;EAX02931;NP_001018070;NP_001139760;NP_653305;Q96NN9 Hs.723246 AIFL;FLJ30473;FLJ45137 OTTHUMP00000198534;OTTHUMP00000198535;OTTHUMP00000198536;apoptosis-inducing factor 3;apoptosis-inducing factor like;apoptosis-inducing factor-like protein protein-coding ENSG00000183773 26398 08085 VALIDATED 731380 AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6, which results in a severe mitochondrial encephalomyopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, May 2010] X X q26.1 129091018 129127489 - 129263337 129299861 - 1580863;6480464;6484113;6907045;7240710 9989411;16713569;17353931;19418225;19197367;18821579;18806756;18593521;18306460;18056262;17709377;17603079;17560018;17492772;17471535;17352692;17347867;17107772;17094969;16729031;16644725;16628003;16365034;16344560;16049016;15772651;15729291;15703386;15526035;15489334;15316071;15286713;15182854;14716299;14585540;12930708;12668724;12629154;12535654;12477932;12198487;12022952;11533664;11279485;10913597;10744629;9892620;9206994;9110174;8619474;1202295;16511342;12404120;15033690;11193032;17967870;16169070;21145461;20450583;20228227;15775970;17148452;19064571;19578750;19598027;19723031;19723032;19781850;20177052;20362274;17822623;19913121;20628086;16133872;22939629;20450942;21206973;20301532;21182205;23217327;23118229;19669652;21732781;21616126;20000738;21875946;20974255;21075090;21293491;20972266;21139048;21890473;22019070;21822214;22438963;18781797;19765186;20360068;21343306;21415862;22103349;22328780;22371500;21113133;22133578;22134679;23398456;23077592;23455922;23752268;17110338;20706999;22688575;23438482;23682427;19380743;22268729;22839996 9131 E9PMA0;E9PMQ8;E9PRR0;Q5JUZ7 ABBA01047894;ABBA01047895;ABBA01047896;ABBA01047897;ABBA01047898;ABBA01047899;AF100928;AF131759;AK000775;AK314446;AL049703;AL049704;AL139234;AMYH01022970;AMYH01022971;AY795556;AY795557;BC111065;BC139738;BM807180;CH471107;CR457379;DA624842;DB119488;DQ016496;DQ016498;DQ016500;NG_013217;NM_001130846;NM_001130847;NM_004208;NM_145812;NM_145813 AAD16436;AAD20036;AAI11066;AAI39739;AAV54053;AAV54054;AAY84737;AAY84739;AAY84741;BAG37055;CAB41267;CAB41268;CAG33660;EAX11810;EAX11811;EAX11812;NP_001124318;NP_001124319;NP_004199;NP_665811;NP_665812;O95831 Hs.424932 2123190;2132156;5024756;5125352 DXS7034E;RH12533;RH80030;STS-AA001364 AIF;CMTX4;COWCK;COXPD6;MGC111425;PDCD8 OTTHUMP00000024007;OTTHUMP00000024008;OTTHUMP00000024009;OTTHUMP00000226557;OTTHUMP00000230753;apoptosis-inducing factor 1, mitochondrial;programmed cell death 8 (apoptosis-inducing factor);striatal apoptosis-inducing factor APPROVED protein-coding ENSG00000156709 8768 02161 300169;300816;310490 REVIEWED 1316387 AIM2 absent in melanoma 2 AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008] 1 1 q22 157298899 157313271 - 159032275 159046647 - 1580863;5490211;6480464 20303873 8700511;9242382;19158676;19158675;17726700;16710414;16432157;15582594;15076139;12477932;10828447;9865494;20595294;18029348;19293232;19795419;20401524;19158679;21471287;21550598;21804607;21883803;22140256;22092578;22320325;22483801;23171461;23530044;22869553;23251661 9447 O14862;Q5T3V8;Q5T3W0 ABBA01016620;ABBA01016621;AF024714;AK292042;AL359753;AMYH01001444;BC010940;CH471121;NM_004833;U52053 AAB81613;AAH10940;BAF84731;EAW52795;NP_004824;O14862 Hs.733411 PYHIN4 OTTHUMP00000035296;interferon-inducible protein AIM2 APPROVED protein-coding ENSG00000163568 357 05202 604578 REVIEWED 1346084 AIG1 androgen-induced 1 6 6 6 q24.2 144122434 144401847 + 143423716 143703134 + 143382023 143661441 + 1580863;6480464 15489334;14702039;14574404;12477932;11266118;10810093;8125298;20379614;21622095 51390 B4DPX2;Q5T2H0;Q5T2H3;Q5T2H4;Q5THU2;Q9NVV5 ABBA01025751;AF151861;AF153605;AJ420480;AK001347;AK222475;AK298533;AL023581;AL136116;AL391726;AL450335;AMYH01016721;BC009559;BC025278;BF725860;BX538067;BX640703;CH471051;NM_016108 AAD34098;AAD41087;AAH25278;ABM84217;ABM87621;BAA91640;BAD96195;BAG60734;CAD97997;CAE45823;EAW47869;EAW47870;NP_057192;Q9NVV5 Hs.567501 1662775;1668386;1669565;1688576;1689251;1698122;1700444;1718791;1773931;1785880;2126095;2141101;2141103;5022578;5037552 A005R11;D1S1423;D6S1854;D8S2279;G20433;L18072;RH102594;RH103843;RH123099;RH12623;RH68631;RH91918;RH92672;SHGC-132024;STS-H95238 AIG-1;DKFZp686F03136;FLJ10485;RP1-95L4.1;dJ95L4.1 OTTHUMP00000017323;OTTHUMP00000017324;OTTHUMP00000017325;OTTHUMP00000017327;OTTHUMP00000017328;androgen induced protein (AIG-1), C-terminus truncated;androgen-induced gene 1 protein protein-coding ENSG00000146416 21607 16346 608514 VALIDATED 1318513 AIM1 absent in melanoma 1 6 6 q21 107066423 107125028 + 106959730 107018335 + 1580863;6480464;7240710 22402438;19194464;18582473;17434096;16511323;14702039;14574404;12693952;12477932;10737800;9096375;8700511;1680551;21145461;19910543;20379614;22127895;22761906;22505724 202 B3KPT0;B4DU04;Q96QW7;Q9Y4K1 AA574200;ABBA01026195;ABBA01026196;AI765826;AK025693;AK056705;AK125137;AK297008;AK300443;AK316287;AL359292;AL390074;AMYH01016566;BC062788;BF743639;CH471051;CV573838;HA637632;NM_001624;U83115;U83116 AAB53791;AAB53792;AAH62788;AAI56647;BAG51792;BAG54152;BAG59543;BAG62166;BAH14658;CAZ39538;EAW48412;EAW48413;NP_001615;Q9Y4K1 Hs.643590;Hs.724262 1661055;1671375;1703904 D6S1886;D6S2123;SHGC-83606 CRYBG1;ST4 OTTHUMP00000016924;absent in melanoma 1 protein;beta-gamma crystallin domain containing 1;beta/gamma crystallin domain-containing protein 1;suppression of tumorigenicity 4 (malignant melanoma) protein-coding ENSG00000112297 356 18576 227240;601797;606574 VALIDATED 6480382 AIMP1P2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 2 1 q24.3 172855087 172855398 - 100873064 ABBA01027913;AMYH01001500;NG_032149;Z97198 pseudo 43693 INFERRED 1352273 AIMP1P1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 1 20 20 20 p12.1 14183350 14184432 + 14055976 14057087 + 14107977 14109059 + 20677014 170547 ABBA01053978;AL136992;AMYH01011727;NG_001053 SCYE1P;bA400P21.1 APPROVED pseudo 16543 INFERRED 1349404 AIS1 autoimmune susceptibility 1 7240710 11912181;12707860 373071 1334633;1341142 D1S2742;D1S515 16304 607836 1318501 AIM1L absent in melanoma 1-like 1 1 1 p36.11 25044670 25076960 - 26520937 26553208 - 26648350 26680621 - 6480464 17672918;16710414;16344560;15203218;14702039;12477932;9716656;8401585;21906983;23251661 55057 E7ET48;E7EX92;E9PIR9;J3KQW1;Q5T144;Q8N1P7;Q9NWG5 ABBA01034904;ABBA01034905;ABBA01034906;ABBA01034907;AK000902;AK095339;AL137264;AL451139;AMYH01000397;AMYH01000398;BC136870;CD628848;CD628851;CH471059;DA439029;DA456217;DR004727;NM_001039775 AAI36871;BAA91416;BAC04533;CAB70663;EAX07819;NP_001034864;Q8N1P7 Hs.128738 2124721 RH69989 CRYBG2;DKFZp434L1713;FLJ10040;FLJ38020 OTTHUMP00000003569;absent in melanoma 1-like protein;beta-gamma crystallin domain containing 2;beta/gamma crystallin domain-containing protein 2 protein-coding 17295 09794 VALIDATED 1346674 AIS2 autoimmune susceptibility 2 7240710 14691733 378426 7186484 D7S669 23054 1342580 AIS3 autoimmune susceptibility 3 (vitiligo specific) 7240710 14691733 378427 1340103 D8S505 23083 2306132 AIRN antisense of IGF2R non-protein coding RNA Both spliced and un-spliced long non-coding RNAs are transcribed from this gene. This gene overlaps on the opposite strand the second intron of the insulin-like growth factor 2 receptor gene; a CpG island associated with the second intron denotes an active promoter that drives the expression of this gene. The related mouse gene is responsible for silencing the insulin-like growth factor 2 receptor gene and flanking genes in the imprinted gene cluster of mice. This gene may be expressed in Wilms tumors. [provided by RefSeq, Feb 2013] 6 q26 160424323 160428696 - 6480464 19008856;18789384;11329013;21345374;21915889;22396659 100271873 ABBA01021058;AL035691;AMYH01016806;AW008515;BG216164;NR_047511;NR_047514 Hs.742166 AIR;IGF2R-AS;IGF2R-AS1;IGF2RAS;NCRNA00088 APPROVED miscrna ENSG00000268257 34515 604893 REVIEWED 1322440 AIRE autoimmune regulator This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012] 21 21 q22.3 44530191 44542530 + 45705721 45718102 + 1599008;1580863;2306853;6480464;6907045;7240710 9921903;18399912 17474147;9398839;9398840;19322061;19265170;19264985;19261265;19209622;19124002;18616774;18616706;18682433;18606876;18600308;18568643;18461357;18324482;18320920;18292755;18200029;18194361;18083234;17997173;17974569;17938200;17928069;17850514;17697502;17687331;17675238;17323409;17220063;17118990;17101293;16890195;16774540;16552513;16313305;16310047;16246524;16114041;15964547;15894121;15886230;15712268;15696198;15649886;15482854;15157567;15150263;14974083;14734522;12651856;12625412;12542742;12477932;12173302;12050215;11836330;11803052;11600535;11533054;11524733;11524731;11298085;11275943;11274163;10830953;10748110;10677297;9931335;9931333;9888391;9735375;9717837;9267805;7987397;12929931;22447927;21356351;21505073;21508664;22490868;19328411;19446523;19744957;19758376;19807739;19811436;20085707;20093495;20140861;20185822;20226168;20363194;23256763;19863576;20218732;20602615;20718774;20734064;21048031;21102544;20453472;20850570;21197407;20407862;23342054;20494980;18029348;21740349;21856934;23077531;23083345;21724609;22036612;22344197;23319629;23456700;22377300;20953165;22024611;21962774;22310661;22613203;22659170;22104652;23074189 326 C9JFR1;C9JL37;O43918 AB006682;AB006683;AB006684;AB006685;ABBA01074161;ABBA01074162;AJ009610;AK309572;AMYH01012290;AMYH01012291;AP001060;AP001754;BC137268;BC137270;BC142608;CH471079;NG_009556;NM_000383;Z97990 AAI37269;AAI37271;BAA23988;BAA23989;BAA23990;BAA23991;BAA23992;BAA23993;BAA95560;CAA08759;CAB10790;EAX09441;EAX09443;NP_000374;O43918 Hs.129829 1793952 PMC310701P3 AIRE1;APECED;APS1;APSI;PGA1 OTTHUMP00000109528;OTTHUMP00000109529;autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein;autoimmune regulator;autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) APPROVED protein-coding ENSG00000160224 360 06301 240300;607358 REVIEWED 1344147 AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008] 4 4 q24 107457124 107489021 + 107236767 107270382 + 724676;1580021;1580863;6480464 12429238;14732363 19362550;21576822;11741979;11306575;7545917;9405472;14500886;19002109;18951814;18621627;17443684;17303557;17051333;17018011;16674941;16615114;16344560;15935955;15489334;14982944;14702039;14688335;14588117;12729910;12543078;12477932;12161535;11157763;10852899;10409428;10358004;9878398;7929199;1400342;15857508;18448069;21145461;21047177;21092922;11714285;12819782;16055448;19565673;19573982;19917687;20332099;8052601;8078941;8188258;8449960;9278442;9368021;20510162;20413730;20429837;21789020;21832049;22863883;22939629;23082492;16196087;21416500;21139048;21890473;21906983;22412987;21628590;22767513;23000965;22190034;22505724 9255 B4DNK3;D6R937;Q12904 ABBA01063740;AC093680;AK095951;AK297950;AK303965;AMYH01014444;AY527272;BC014051;BG941396;BI258927;BM314663;BQ447202;CH471057;CR542281;DA211424;DC358150;NG_028166;NM_001142415;NM_001142416;NM_004757;U10117 AAA62202;AAH14051;ABM84225;ABM87736;BAG53174;BAG60265;BAG64889;CAG47076;EAX06203;EAX06204;NP_001135887;NP_001135888;NP_004748;Q12904 Hs.591680 1678349;1700696;1754375;1798132;2114733;2124662;2126138;2149743;2159558 G35299;RH103971;RH93669;SCYE1_2292;SHGC-132391;SHGC-24759;SHGC-57456;SHGC-59700;SHGC-67688 EMAP2;EMAPII;HLD3;SCYE1;p43 ARS-interacting multifunctional protein 1;OTTHUMP00000161877;OTTHUMP00000161878;OTTHUMP00000219673;aminoacyl tRNA synthase complex-interacting multifunctional protein 1;endothelial monocyte-activating polypeptide 2;endothelial-monocyte activating polypeptide II;multisynthase complex auxiliary component p43;multisynthetase complex auxiliary component p43;small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) APPROVED protein-coding ENSG00000164022 10648 04676 260600;603605 REVIEWED 1603390 AJAP1 adherens junctions associated protein 1 1 1 1 p36.32 3826971 3955676 + 4614965 4743711 + 4715105 4843851 + 6480464 19515834;19850283;19240061;18485053;17267690;16707570;16410724;14595118;12477932;9110174;8619474;21439246;22241217;23064961;20467438 55966 Q9UKB5 ABBA01014088;ABBA01014089;ABBA01014090;AF052143;AF175409;AL023586;AL049672;AL049673;AL391808;AMYH01000199;AMYH01000200;AMYH01000201;AY282806;BC041648;CH471130;NM_001042478;NM_018836;Z98886 AAD53278;AAI60124;AAP35025;CAB41245;CAB41246;EAW71504;NP_001035943;NP_061324;Q9UKB5 Hs.25924 1336058;1703228;1733174;1766901;1773444;1850263;5105873 D1S1475;D1S2660;G09820;SGC32361;SHGC-151204;SHGC-152353;SHGC-74142 MOT8;RP3-426F10.1;SHREW-1;SHREW1 OTTHUMP00000000694;OTTHUMP00000000695;adherens junction associated protein 1;adherens junction-associated protein 1;membrane protein shrew-1;transmembrane protein SHREW1 protein-coding ENSG00000196581 30801 15339 610972 VALIDATED 1626587 AK2P1 adenylate kinase 2 pseudogene 1 1 1 1 p32.1 57380035 57380761 - 58868171 58870148 - 59096518 59097244 - 10092943 266920 ABBA01074659;AF056332;AL035411;AMYH01000656;NG_002393 1682503;1793106 PMC196577P1;RH80838 AK2B pseudo 24037 INFERRED 1603320 AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 The JTV1 gene is located on chromosome 7p22 flanked by two genes, HRI and PMS2. JTV1 and HRI overlap slightly and are arranged in a tail-to-tail fashion. JTV1 and PMS2 are separated by approximately 200 base pairs and are arranged head-to-head. JTV1 is transcribed in the opposite direction compared to HRI and PMS2. The function of the JTV1 gene product is unknown. [provided by RefSeq, Jul 2008] 7 7 p22 6015408 6029991 + 6048882 6063465 + 6480464 22562359;16189514;18695251;18676680;16125937;15489334;12853948;12819782;12783850;12729910;12690205;12477932;10913161;9878398;8666379;1651330;600859;15479637;21483803;16049031;16135753;16714300;11714285;16055448;17512523;19060904;19170196;19625176;19692168;8052601;8078941;8188258;8449960;9278442;21832049;22863883;22939629;22285955;19584093;21044950;21628590;22751010;21209200;18781797;21900206;21139048;21890473;21110914;22532625;22190034 7965 A8MU58;F8W950;F8WCL2;Q13155 ABBA01029369;ABBA01029370;AC005995;AF116615;AK313037;AMYH01017029;AMYH01017030;BC002853;BC010156;BC013630;CH236963;CH878731;NM_006303;U24169 AAC50391;AAF71039;AAH02853;AAH10156;AAH13630;AAS00389;BAG35870;EAL23713;EAW55053;EAW55054;NP_006294;Q13155 Hs.301613;Hs.520205 1646772;1712220;2117616;2159210 D7S2761;G54017;RH12212;SHGC-37403 JTV-1;JTV1;P38;PRO0992 ARS-interacting multi-functional protein 2;JTV1;OTTHUMP00000151158;OTTHUMP00000201310;OTTHUMP00000201311;aminoacyl tRNA synthase complex-interacting multifunctional protein 2;multisynthase complex auxiliary component p38;multisynthetase complex auxiliary component p38;protein JTV-1 APPROVED protein-coding ENSG00000106305 20609 02915 600859 VALIDATED 1626554 AK2P2 adenylate kinase 2 pseudogene 2 2 2 2 p23.1 31893336 31893756 - 31901195 31902397 - 32048479 32048899 - 339736 ABBA01074858;AL121652;AMYH01010222;NG_009660 1793106;2151332 PMC196577P1;SHGC-74553 pseudo 33542 INFERRED 735610 AIPL1 aryl hydrocarbon receptor interacting protein-like 1 Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA. [provided by RefSeq, Jul 2008] 17 17 p13.1 6267783 6279243 - 6327059 6338519 - 1599003;70801;1580863;6480464;7240710 10873396;10615133 14555765;12374762;18408180;16272259;15489334;15469903;15365173;15347646;15249368;15180275;15081406;14702039;12477932;11929855;11548141;10331942;8889548;20801516;19753312;19959640;20042464;20702822;21697133;21900377;22347407;21044950;20301475;20301590 23746 F1T0B5;F1T0B6;F1T0C4;I3L3R9;J3KPI5;K7EPF4;Q659W3;Q659W4;Q6ZZB5;Q7Z3H1;Q9NZN9 AB593042;AB593043;AB593044;AB593045;AB593046;AB593047;AB593048;AB593049;AB593050;AB593051;AB593052;AB593053;AB593054;AB593055;ABBA01054828;AC055872;AF038437;AF148864;AF180472;AF525970;AJ633677;AJ633678;AJ830742;AJ830743;AK023970;AK314558;AMYH01008058;BC007994;BC012055;BE778451;BM685943;BX537907;BX647279;BX953335;CH471108;NG_008474;NM_001033054;NM_001033055;NM_014336 AAF26708;AAF74023;AAH12055;AAM88405;AAQ13422;ABM83186;ABM86388;BAB14744;BAG37143;BAJ83989;BAJ83990;BAJ83991;BAJ83992;BAJ83993;BAJ83994;BAJ83995;BAJ83996;BAJ83997;BAJ83998;BAJ83999;BAJ84000;BAJ84001;BAJ84002;CAD97892;CAG17882;CAG17883;CAH25995;CAH25996;EAW90310;EAW90311;EAW90312;EAW90313;EAW90314;EAW90315;NP_001028226;NP_001028227;NP_055151;Q9NZN9 Hs.279887 1336063;1711382;1711426;2114096;2164410;2169948 AIPL1;G10693;G42173;G42198;RH78637;STS-AA019599 AIPL2;LCA4 OTTHUMP00000128207;aryl hydrocarbon receptor-interacting protein-like 1;aryl-hydrocarbon-interacting protein-like 1 APPROVED protein-coding ENSG00000129221 359 05092 604392;604393 REVIEWED 5684152 AK3P2 adenylate kinase 3 pseudogene 2 8 q24.3 144138480 144139233 - 100419074 ABBA01005274;AC083982;AMYH01019098;NG_026075 1744323 GDB:451685 HsT26053 pseudo 31099 INFERRED 5490944 AK3P3 adenylate kinase 3 pseudogene 3 7 23168797 23169457 + 100419075 AACC02000007;ABBA01056700;AC006039;AMYH01017110;CH236948;NG_026542 pseudo 39062 INFERRED 4144669 AK3P4 adenylate kinase 3 pseudogene 4 5 5 5 q22.3 110686059 110686782 + 114759674 114766563 + 114738037 114738661 + 100129959 ABBA01069033;AC091981;AMYH01015561;NG_028719 pseudo 39063 INFERRED 4144672 AK3P5 adenylate kinase 3 pseudogene 5 10 10 p11.22 32998683 32999267 + 33233345 33233929 + 100288319 ABBA01033378;AL365203;AMYH01002223;NG_022166;NG_029012 pseudo 39064 INFERRED 1343876 AJUBA ajuba LIM protein 14 14 q11.2 22510249 22521691 - 23440409 23451851 - 1580863;6480464;6484113 18805794;18710370;17621269;16713569;16413547;15870274;15870270;15728191;14702039;13678582;12477932;12417594;11860269;11029037;10330178;15778465;22105346;16712791;20133701;20508983;18347060;18331720;21139048;22286099 84962 G3V481;G3V5F5;H0YJL9;Q96IF1 ABBA01061298;AK025567;AK096128;AL132780;AMYH01005601;AY169959;BC007580;BC016733;BC034968;BU543883;CB105505;CH471078;NM_032876;NM_198086 AAH07580;AAH34968;AAO37641;ABM84439;ABM87485;BAG53217;EAW66204;EAW66205;NP_116265;NP_932352;Q96IF1 Hs.655832 1721981;2143018;2174639;2178680;5491427 G59876;MARC_11631-11632:1002817108:1;RH47855;RH68535;WI-17421 JUB;MGC15563 LIM domain-containing protein ajuba;OTTHUMP00000027924;OTTHUMP00000164552;OTTHUMP00000246052;OTTHUMP00000246053;OTTHUMP00000246054;jub, ajuba homolog;protein ajuba APPROVED protein-coding ENSG00000129474 20250 16426 609066 VALIDATED 1349421 AK4P1 adenylate kinase 4 pseudogene 1 17 17 q11.2 26696663 26697334 + 29672332 29674519 + 1639383 206 ABBA01014962;AC134669;AMYH01008321;NG_001070;X60674 AK3P1 APPROVED pseudo 364 INFERRED 6481552 AK3P6 adenylate kinase 3 pseudogene 6 12 129426644 129429838 - 100873789 ABBA01019774;AC069262;AMYH01004870;NG_032224 pseudo 39065 INFERRED 1354071 AIP aryl hydrocarbon receptor interacting protein The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. [provided by RefSeq, Sep 2008] 11 11 q13.3 67007097 67015150 + 67250505 67258579 + 1580863;6480464;7240710 9447995;14557246;8972861;18029348;19474519;19375531;19188737;18710468;18628514;18484068;18381572;17916996;17914118;17893251;17613551;17609395;17360484;17341560;17299063;17244780;17242703;17018653;16936638;16807248;16728643;15592455;15489334;14730974;12837759;12721663;12482853;12477932;12361709;12065584;12036304;11805120;11259606;11013261;10986286;10690880;9837941;16582008;9111057;9083006;8889548;7961671;20029029;20506337;20211142;21208107;21078971;21170051;20530095;20634891;20685857;12810716;16257957;17329248;18410548;19366855;19556287;19684062;19794292;19883897;19910549;20507346;20354355;22863883;22811466;21340155;22939629;20595802;21450940;21546764;21753072;22319033;21139048;21906983;19390533;21512261;21903422;21984905;22026581;22420004;22720333;23321498;21988832;22113938;23000965;23038625;23300914;20661446;22505724 9049 E9PMH2;E9PPD7;O00170 ABBA01024030;AM236341;AMYH01003747;AP001184;AP003419;BC104797;BC104827;BG821308;BU689235;CH471076;CN480874;EF203238;GQ847771;NG_008969;NM_003977;U31913;U78521 AAB39923;AAB59004;AAI04798;AAI04828;ABO16001;ABZ92142;ACX54433;CAJ85657;EAW74637;NP_003968;O00170 Hs.412433 1646139;1655588;1686356;1772643;2217000 AIP_2914;RH47507;RH71222;STS-W15227;WI-14069 ARA9;FKBP16;FKBP37;SMTPHN;XAP-2;XAP2 AH receptor-interacting protein;HBV X-associated protein 2;HBV-X associated protein;OTTHUMP00000236411;OTTHUMP00000236412;XAP-2;aryl hydrocarbon receptor-interacting protein;aryl-hydrocarbon receptor interacting protein;aryl-hydrocarbon receptor-interacting protein;immunophilin homolog ARA9 APPROVED protein-coding ENSG00000110711 358 10408 102200;219090;600634;605555 REVIEWED 736701 AK1 adenylate kinase 1 Adenylate kinase is an enzyme involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate group among adinine nucleotides. Three isozymes of adenylate kinase have been identified in vertebrates, adenylate isozyme 1 (AK1), 2 (AK2) and 3 (AK3). AK1 is found in the cytosol of skeletal muscle, brain and erythrocytes, whereas AK2 and AK3 are found in the mitochondria of other tissues including liver and heart. AK1 was identified because of its association with a rare genetic disorder causing nonspherocytic hemolytic anemia where a mutation in the AK1 gene was found to reduce the catalytic activity of the enzyme. [provided by RefSeq, Jul 2008] 9 9 q34.1 129668580 129679843 - 130628759 130640022 - 1300279;1580863;1601154;1300280;1300048;5134362;5508760;5490520;5147990;6480464;6907045;7240710 10233365;15855311;11101510;20127051;16468349;16167529;17611631 2542324;211388;17353931;18029348;19165527;18850517;18404568;16714292;16344560;15489334;12649162;12477932;12432079;12124227;10557075;9504408;8125298;7947281;6305188;3024483;2541064;183954;15967462;20152999;21457004;21832049;22939629;22637533;22287021;21831515;21139048;21555454;21890473;21044950;22419736;23146316;23000965 203 F8VRY5;H0Y4J6;H0YID2;P00568;Q5T9B7;Q6FGX9 AB021871;ABBA01043850;AK223501;AK313758;AL157935;AMYH01021736;BC001116;BC036803;BC100022;BT019580;CH471090;CR541977;CR542004;DA077967;J04809;NG_011792;NM_000476 AAA51686;AAH01116;AAI00023;AAV38387;ABM83502;ABM86718;BAA78534;BAD97221;BAG36497;CAG46775;CAG46801;EAW87706;EAW87707;EAW87708;EAW87709;NP_000467;P00568 Hs.175473 1695010;1759959;1777120;5015861;5022590;7185938 D10S16;D8S1362E;G44718;SHGC-31174;SHGC-31625 AK 1;ATP-AMP transphosphorylase 1;ATP:AMP phosphotransferase;OTTHUMP00000022217;OTTHUMP00000022218;OTTHUMP00000022219;OTTHUMP00000022220;OTTHUMP00000216413;adenylate kinase isoenzyme 1;adenylate monophosphate kinase;myokinase APPROVED protein-coding ENSG00000106992 361 00046 103000;612631 REVIEWED 4144712 AK4P2 adenylate kinase 4 pseudogene 2 5 5 5 q11.2 51801829 51802495 - 54883470 54896615 - 54847716 54848382 - 100132104 ABBA01015743;AC008784;AC025777;AMYH01015090;NG_021849 pseudo 39066 INFERRED 4144715 AK4P4 adenylate kinase 4 pseudogene 4 9 9 9 p24.1 5793276 5793916 - 5823116 5846426 - 5855786 5856426 - 100128705 ABBA01065409;AL365360;AMYH01019203;NG_021605 2155895 1422 pseudo 39067 INFERRED 4145468 AK4P5 adenylate kinase 4 pseudogene 5 6 80787446 80788079 - 100526416 ABBA01040421;AL591135;AMYH01016460;NG_027847 KIAA1424 pseudo 39068 INFERRED 1605795 AK4P3 adenylate kinase 4 pseudogene 3 1 12 p11.21 65386679 65464448 + 31767388 31769519 - 645619 AC022080;AMYH01004367;CH471116;NG_007564 EAW88550 AK3;AK3L2;AK3L2P APPROVED pseudo 21596 INFERRED 4144674 AK4P6 adenylate kinase 4 pseudogene 6 4 4 4 q31.3 149267857 149268384 + 152167650 152168312 + 151948242 151948769 + 649288 ABBA01070096;AC079794;AMYH01014614;NG_022085 pseudo 39069 INFERRED 1350831 AK8 adenylate kinase 8 9 9 9 q34.13 106142640 106295933 - 134590786 134744019 - 135600965 135754198 - 737633;6480464 12477932 17207965;19240061;14702039;18839057;20379614;21080915;23455924;23251661;23377640 158067 Q8N9Z7;Q96MA6 ABBA01032479;ABBA01032480;ABBA01032481;AK057266;AK093333;AK093446;AK292186;AL160165;AL445645;AMYH01021792;BC034776;BC037402;BC050576;CH471090;NM_152572 AAH34776;AAH50576;ADQ31793;BAB71402;BAC04134;BAC04168;BAF84875;EAW88012;EAW88013;EAW88014;EAW88015;EAW88016;EAW88017;NP_689785;Q96MA6 Hs.421340 1336184;1650490;1713503;1752873;1759605;2112010;2126554;2130472;5127953 D9S1830;D9S2126;RH120235;SGC31362;SHGC-106791;SHGC-151232;SHGC-152457;SHGC-34984;STS-H71035 AK 8;C9orf98;DDX31;FLJ32704;FLJ36014;RP11-143F18.1 ATP-AMP transphosphorylase 8;OTTHUMP00000022737;adenylate kinase 8;putative adenylate kinase-like protein C9orf98 APPROVED protein-coding ENSG00000165695 26526 12991 615365 VALIDATED 735291 AK2 adenylate kinase 2 Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010] 1 1 p34 33246173 33275079 - 33473541 33502512 - 1300048;5490520;6480464;6907045;7240710 16167529 9504408;6182143;19043417;19043416;18404568;17952061;16710414;15862967;15489334;14702039;12477932;10218571;9434148;8843353;6961883;195572;17643375;20877624;16344560;22939629;19471022;21139048;21693764;21890473;21906983;21145461;21963094;21988832;22505724 204 F8VPP1;F8VY04;F8VZG5;F8W1A4;G3V213;Q8TCY3 AB005621;AB005622;AB451267;AB451394;ABBA01023387;AK023758;AK291676;AK295105;AK296863;AK297036;AK307731;AL020995;AMYH01000476;AY080899;AY080900;BC009405;BC026705;BC070127;BC090040;BX504559;CH471059;DB206302;DC422465;NG_016269;NM_001199199;NM_001625;NM_013411;NR_037591;NR_037592;U39945;U54645;U84371 AAB41790;AAC13881;AAC52061;AAH09405;AAH70127;AAH90040;AAL87027;AAL87028;BAC16747;BAC16748;BAF84365;BAG58139;BAG59426;BAG59564;BAG70081;BAG70208;EAX07483;EAX07484;EAX07485;EAX07486;NP_001186128;NP_001616;NP_037543;P54819 Hs.470907 1336168;1338346;1682503;1696682;1739207;1793106;2110247;2117612;2136560;2151332;2153144;7185614 AK2__4273;AL009694;D1S2291;D1S241;D1S2676;PMC196577P1;RH70625;RH80838;SHGC-74553;SHGC-83025;STS-AA029315 ADK2;AK 2 AK 2;ATP-AMP transphosphorylase 2;ATP:AMP phosphotransferase;OTTHUMP00000004287;OTTHUMP00000004288;OTTHUMP00000241076;OTTHUMP00000241096;OTTHUMP00000241097;adenylate kinase 2, mitochondrial;adenylate kinase isoenzyme 2, mitochondrial;adenylate monophosphate kinase APPROVED protein-coding ENSG00000004455 362 00047 103020;267500 REVIEWED 737588 AK3 adenylate kinase 3 The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 9 9 9 p24.1 4633666 4666796 - 4701158 4731227 - 4709556 4742043 - 1580863;1300048;5490520;6480464;6907045 16167529 15489334;15164053;14702039;12477932;11485571;182062;19820697;10544043;16344560;20877624;218813;22939629;22412388;19322201;21988832;22139419 50808 Q7Z4Y4;Q9UIJ7 AB021870;ABBA01065419;ABBA01065420;AF086913;AF100785;AF183419;AK001553;AK001951;AK027534;AK098205;AK124824;AK298200;AL136231;AL353151;AMYH01019201;BC013771;BI550730;BI601245;BX640794;CH471071;DA570364;DA718987;NG_028041;NM_001199852;NM_001199853;NM_001199855;NM_001199856;NM_016282 AAG09688;AAH13771;AAP97143;AAP97224;ABM82586;ABM85773;BAA87913;BAA91753;BAA91996;BAB55183;BAG53592;BAG54101;BAG60470;EAW58779;EAW58780;EAW58781;NP_001186781;NP_001186782;NP_001186784;NP_001186785;NP_057366;Q9UIJ7 Hs.732022 1644467;1675951;1678385;1679367;1695334;1735856;1744323;2152245;5014051;5015619;5021872;5022578;5022651;5037552;5093352 A009M22;D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;D9S987E;G32668;GDB:451685;RH69311;RH69564;RH93015;SHGC-64759;STS-H37837;sY3084 AK3L1;AK6;AKL3L;AKL3L1;FIX AK 3;GTP:AMP phosphotransferase AK3, mitochondrial;GTP:AMP phosphotransferase mitochondrial;GTP:AMP phosphotransferase, mitochondrial;OTTHUMP00000021015;OTTHUMP00000021016;adenylate kinase 3 alpha like;adenylate kinase 3 alpha-like 1;adenylate kinase 3 like 1;adenylate kinase 6, adenylate kinase 3 like 1 APPROVED protein-coding 17376 12439 609290 REVIEWED 6481064 AKAP11-IT1 AKPA11 intronic transcript 1 (non-protein coding) 100874349 AL136527 miscrna 39939 1606591 AK4 adenylate kinase 4 This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008] 1 1 p31.3 65385820 65465765 + 65613232 65697828 + 5134352;2301096;5490520;6480464;6907045 21152904;16538043;16167529 19073142;15489334;12477932;11485571;10544043;9813319;9504419;7140357;1639383;182062;16341674;16344560;19766732;20379614;21832049;23002211;23509962;21900206;19322201;21988832;23474458 205 D3DQ64;P27144 ABBA01074546;ABBA01074547;ABBA01074548;ABBA01074549;AC099680;AK025926;AK026966;AK309057;AK313611;AL356212;AMYH01000684;AMYH01000685;BC016180;BC040224;BC066944;BC136886;BC136887;BC146653;BC148270;BF205061;BG703687;BM763432;BU164554;CH471059;CR456830;DB061266;DR003868;NM_001005353;NM_013410;NM_203464;X60673 AAH16180;AAH40224;AAH66944;AAI36887;AAI36888;AAI46654;AAI48271;ABM83220;ABM86420;BAG36374;CAA43088;CAG33111;EAX06538;EAX06540;EAX06544;NP_001005353;NP_037542;NP_982289;P27144 Hs.10862 1654272;1756401;1771299;1857111;2123561;2146320;2178374;5024717;5093588;5123052 A009S21;AL009904;G16073;G32808;RH70853;SGC34423;SHGC-143375;SHGC-74947;WI-11122;WI-7525 AK 4;AK3;AK3L1;AK3L2;MGC166959 ATP-AMP transphosphorylase;GTP:AMP phosphotransferase;GTP:AMP phosphotransferase AK4, mitochondrial;OTTHUMP00000010594;OTTHUMP00000241178;adenylate kinase 3-like 1;adenylate kinase isoenzyme 4;adenylate kinase isoenzyme 4, mitochondrial;mitochondrial adenylate kinase-3;nucleoside-triphosphate-adenylate kinase APPROVED protein-coding ENSG00000162433 363 00048 103030 REVIEWED 736276 AKAP11 A kinase (PRKA) anchor protein 11 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008] 13 13 13 q14.11 23903720 23954839 + 41744289 41795402 + 42846289 42897403 + 632175;1580863;2312475;2312477;2312637;6480464 8621616;14715913;19319965;18385542 10209101;17353931;15057823;14702039;12168954;12147701;11823486;11807172;11152471;10864471;9734811;9238861;12672969;19801982;10737800;16344560;21890631;18029348;21139048;21890473;21145461;22504420;23402259;23455922;23667531 11215 Q6AI61;Q9UKA4 AB014529;ABBA01021255;AF176555;AK002166;AK074384;AL136527;AMYH01005072;BE670178;BE694434;CH471075;CR627087;DA780016;NM_016248 AAF07045;AAI56136;AAI72498;BAA31604;BAA92117;CAH10362;EAX08676;EAX08677;NP_057332;Q9UKA4 Hs.105105 1655997;1681530;2115400;5024039;5037552;5109281 D16S325;D1S1425;D8S2279;RH92944;STS-H70800;STS-Z40816 AKAP-11;AKAP220;DKFZp781I12161;FLJ11304;KIAA0629;PPP1R44;PRKA11 A-kinase anchor protein 11;A-kinase anchor protein 220 kDa;A-kinase anchoring protein, 220kDa;AKAP-11;OTTHUMP00000018327;a kinase anchor protein 220 kDa;hAKAP220;protein kinase A anchoring protein 11;protein kinase A-anchoring protein 11;protein phosphatase 1, regulatory subunit 44 APPROVED protein-coding ENSG00000023516 369 05261 604696 REVIEWED 1353587 AK5 adenylate kinase 5 This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p31 75987128 76265178 + 77520330 77798242 + 77747662 78025654 + 1580863;5490520;6480464;6907045 16167529 10215863;15489334;14702039;12477932;16169070;19647735;20379614;18029348;18239623 26289 E9PIS7;E9PQQ8;H0YEZ1;Q9Y6K8 ABBA01074399;ABBA01074400;ABBA01074401;AC093433;AC093575;AC095030;AF062595;AF445193;AK090967;AMYH01000720;AMYH01000721;AMYH01000722;AW665223;AY171600;BC012467;BC033896;BC036666;CH471059;CR541890;DN993295;NM_012093;NM_174858 AAD27956;AAH12467;AAH33896;AAH36666;AAO16520;AAP97322;BAC03558;CAG46688;EAX06377;EAX06378;EAX06379;NP_036225;NP_777283;Q9Y6K8 Hs.559718;Hs.597002 1341164;1658653;1662512;1700366;1723049;2109029;2132693;2148821;2151637;2164971;2175027;2178791;2186202;7186668 A004B41;AFMA114ZD9;AK5_9482;AL009966;D1S1862E;D1S2157;D1S2456;D1S499;G60475;RH103803;SHGC-30349;SHGC-53458;SHGC-75022 AK6;MGC33326 AK 5;ATP-AMP transphosphorylase 5;OTTHUMP00000011354;OTTHUMP00000011355;adenylate kinase 6;adenylate kinase isoenzyme 5 APPROVED protein-coding ENSG00000154027 365 10472 608009 REVIEWED 70080 AKAP10 A kinase (PRKA) anchor protein 10 This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012] 17 17 p11.1 19749341 19821721 - 19807765 19881169 - 1580863;2312475;2312477;6480464;7240710 14715913;19319965 9326583;19496216;19209010;19056482;17786291;17485678;17143557;16956908;15489334;15488188;14531806;12646697;12477932;12206784;11807172;11248059;9238861;7505766;16189514;19462906;19578796;19797056;19857670;20159461;20453000;18029348;20877624;22863883;21701445;20171186;15342556;22817328;23092224;22139419 11216 E7EMD6;I3L177;I3L479;I3NI04;J3QL61;J3QR74;J3QRM7;K7EM25;O43572 ABBA01054591;ABBA01054592;AC005730;AC015726;AF037439;AK295180;AK308297;AK312438;AMYH01008239;BC017055;BP229845;CH471212;DQ270159;NG_011493;NM_007202;U00957 AAB92260;AAH17055;ABB76684;ABM82403;ABM85592;BAG35347;BAH12002;EAW50913;NP_009133;O43572 Hs.642676 1734496;2109031;2160800;2181561;2185091 AKAP10_9241;D17S1447E;RH65769;SHGC-53199;WI-19974 AKAP-10;D-AKAP-2;D-AKAP2;MGC9414;PRKA10 A-kinase anchor protein 10, mitochondrial;AKAP-10;D-AKAP-2;OTTHUMP00000065850;a kinase anchor protein 10;dual specificity A kinase-anchoring protein 2;dual-specificity A-kinase anchoring protein 2;mitochondrial A kinase PPKA anchor protein 10;protein kinase A anchoring protein 10;protein kinase A-anchoring protein 10 APPROVED protein-coding ENSG00000108599 368 05259 115080;604694 REVIEWED 1320025 AK7 adenylate kinase 7 14 14 14 q32.2 76914175 77010845 + 95928201 96024865 + 96858448 96955764 + 1580863;6480464;6907045 15489334;14702039;12508121;12477932;20379614;20537283;21080915;22801010;21139048;8889548 122481 G3V365;H0YIY5;Q96M32 ABBA01048590;ABBA01048591;ABBA01048592;ABBA01048593;ABBA01048594;ABBA01048595;AK057426;AL163051;AL359240;AMYH01005977;AMYH01005978;BC023986;BC035256;BM981526;CH471061;NM_152327 ABM82637;ABM85814;BAB71480;EAW81636;EAW81637;EAW81638;EAW81639;EAW81640;NP_689540;Q96M32 Hs.667462 1335033;1744331;2125307;2151981;2154800 D10S1151;G35398;G35577;G35998;GDB:451706 AK 7;FLJ32864 ATP-AMP transphosphorylase 7;OTTHUMP00000246000;adenylate kinase 7;putative adenylate kinase 7 protein-coding ENSG00000140057 20091 10640 615364 VALIDATED 4143131 AKAP16BP A kinase (PRKA) anchor protein 16B, pseudogene X X X q24 118845611 118846351 - 118267298 118275658 - 118390881 118391621 - 6480464 17302988 139516 ABBA01036706;AC004835;AMYH01022880;NG_022632 AKAP16B APPROVED pseudo 38514 INFERRED 1343676 AKAP1 A kinase (PRKA) anchor protein 1 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008] 17 17 q22 52517552 52553709 + 55162553 55198710 + 1580863;2312475;2312477;2313128;6480464;6484113 14715913;19319965;18323779 8769136;12223483;18029348;19074462;18786546;18625701;17884635;16344560;15489334;15302935;15143158;14759258;12697839;12634056;12477932;12414807;11807172;11546661;11483602;10995432;10764601;10352013;9238861;9065479;7499250;10413680;8889548;19615732;20877624;20308539;20677014;21832049;23045525;21139048;21890473;23000965;23077346;19750561;21994574;22807343 8165 B4DN86;I3L0K6;I3L0V5;I3L0W0;I3L2A2;I3L2N7;I3L364;I3L3K1;I3L3L9;I3L3V6;I3NI36;Q92667 ABBA01041310;AC007114;AF015910;AK292416;AK297810;AK308397;AMYH01008504;BC000729;BM711930;CB048239;CD172211;CH471109;DA092401;DA455114;NG_029985;NM_001242902;NM_001242903;NM_003488;U34074;X97335 AAB64298;AAC50279;AAH00729;ABM84528;ABW03447;BAF85105;BAG60148;CAA66000;EAW94515;EAW94516;EAW94517;EAW94518;NP_001229831;NP_001229832;NP_003479;Q92667 Hs.463506 1712138;1767072;1783634;1847410;2149689;2160780;2218208;5114061 AKAP1__4276;D17S1372E;D17S1559;G54119;RH69729;RH91665;SHGC-172273;WI-20688 AKAP;AKAP121;AKAP149;AKAP84;D-AKAP1;MGC1807;PPP1R43;PRKA1;SAKAP84;TDRD17 A-kinase anchor protein 1, mitochondrial;A-kinase anchor protein 149 kDa;A-kinase anchor protein, 149kD;AKAP 149;D-AKAP-1;OTTHUMP00000179121;dual specificity A-kinase-anchoring protein 1;dual-specificity A-kinase anchoring protein 1;protein kinase A anchoring protein 1;protein kinase A-anchoring protein 1;protein kinase A1;protein kinase anchoring protein 1;protein phosphatase 1, regulatory subunit 43;spermatid A-kinase anchor protein 84;tudor domain containing 17 APPROVED protein-coding ENSG00000121057 367 03905 602449 REVIEWED 737243 AKAP12 A kinase (PRKA) anchor protein 12 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 6 6 q24-q25 151603202 151719602 + 151561134 151679694 + 1580863;2312475;2312477;6480464 14715913;19319965 16751776;10858453;18029348;19210988;18950703;18579430;18554502;18397319;18199717;17577780;17442832;17442483;17200117;17081983;17081159;16762919;16642035;16344560;15923193;15590635;15345747;15258566;14657015;12857743;12477932;11807172;11766078;11316952;11309381;9880537;9604001;9238861;9000000;1522245;20029029;21115911;20979053;19724895;19851296;20018890;20198315;21540461;20364105;20939879;22863883;21310466;21461577;20360068;21900206;21903576;21139048;21890473;21906983;21918680;22584896;23000965;23063527 9590 Q02952;Q86TJ9 AB003476;AB210003;ABBA01025642;ABBA01025643;ABBA01025644;ABBA01025645;ABBA01025646;ABBA01025647;ABBA01025648;ABBA01025649;ABBA01025650;AF001504;AF086250;AK024598;AK307578;AK307673;AK307739;AL033392;AL356535;AL590413;AMYH01016745;BC000188;BC015830;BC022814;BC033829;BC046095;BC047728;BC070151;BC117679;BC117680;CH471051;CN480611;CR749527;CR936604;DA055364;DQ584338;M96322;NG_029875;NM_005100;NM_144497;U81607 AAA35931;AAB58938;AAC51366;AAH47728;AAH70151;AAI56287;AAI57068;BAA19927;BAE06085;CAH18338;CAI56750;EAW47753;EAW47754;EAW47755;NP_005091;NP_653080;Q02952 Hs.371240 1669737;1684158;1713089;1730321;1777106;1778913;1779021;1847786;2106415;2119889;2120062;2131846;2180842 AKAP12__4277;D6S1869;D6S320E;D6S476;RH120332;RH1532;RH48460;RH94092;SHGC-30338;SHGC-31130;SHGC-33357;SHGC-34852;STS-M96322 AKAP250;DKFZp686M0430;DKFZp686O0331;FLJ20945;FLJ97621;SSeCKS A-kinase anchor protein 12;A-kinase anchor protein 250 kDa;A-kinase anchor protein, 250kDa;AKAP 250;AKAP-12;OTTHUMP00000017426;OTTHUMP00000017427;Src-Suppressed C Kinase Substrate;kinase scaffold protein gravin;myasthenia gravis autoantigen gravin APPROVED protein-coding ENSG00000131016 370 05263 604698 REVIEWED 1353822 AKAP14 A kinase (PRKA) anchor protein 14 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The protein anchors PKA in ciliary axonemes and, in this way, may play a role in regulating ciliary beat frequency. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] X X X q24 119484561 119509308 + 118913964 118938707 + 119029936 119054679 + 2312475;2312477;6480464 14715913;19319965 15489334;12477932;12475942;11329013 158798 A6NNZ0;Q86UN6 ABBA01036613;ABBA01036614;ABBA01110425;ABBA01179529;AC002477;AF514780;AF514781;AF514782;AMYH01022886;BC066357;BG208671;CH471161;NG_013218;NM_001008534;NM_001008535;NM_178813 AAH66357;AAP20825;AAP20826;AAP20827;EAW89839;NP_001008534;NP_001008535;NP_848928;Q86UN6 Hs.592245 1773606;1774114;2123204;5114008 RH18491;RH47102;RH92064;WI-17367 AKAP28;PRKA14 A-kinase anchor protein 14;A-kinase anchor protein 28 kDa;A-kinase anchoring protein 28;AKAP 28;AKAP-14;OTTHUMP00000023927;OTTHUMP00000023928;OTTHUMP00000023929;protein kinase A-anchoring protein 14 APPROVED protein-coding ENSG00000186471 24061 02353 300462 REVIEWED 736118 AKAP13 A kinase (PRKA) anchor protein 13 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012] 15 15 q24-q25 83724875 84093590 + 85923847 86292589 + 2312475;2312477;6480464 14715913;19319965 1860836;1618839;16301118;17353931;8290273;9891067;18519826;18445682;18093280;17878165;17081983;16964243;16956908;16469733;16412732;16234258;15691829;15489334;15324660;15249197;15229649;14702039;14660653;14636890;12972258;12672969;12663445;12477932;12423633;12270917;11696353;11579095;11546812;11285229;11278452;9627117;7929081;11756498;12376548;12787561;19696020;19779964;19888694;19911011;19960345;20353833;20379614;15383279;18029348;20936779;20719862;20696764;21102438;21224381;21228793;21139048;21890473;22161024;23045525;23090968;23291589;22731613 11214 A8MYJ1;B0AZU4;H0YK18;H0YK84;H0YLH1;H0YMI5;H0YMW2;Q9Y5T6 AB055890;AB209414;ABBA01052961;ABBA01052962;ABBA01052963;ABBA01052964;ABBA01052965;ABBA01052966;ABBA01052967;ABBA01052968;AC021739;AC087286;AC104046;AC110592;AF086293;AF126008;AF387101;AF406992;AK022014;AK026186;AK091210;AK125331;AK307618;AK309805;AK315885;AL133426;AL133427;AL133429;AL133430;AL135297;AMYH01006893;AMYH01006894;AMYH01006895;AMYH01006896;AMYH01006897;BC000269;BC009213;BC017368;BC019662;BC040109;BC050312;BC063592;BC089394;BC140862;BC171798;CA306665;CH471101;M90360;NM_001270546;NM_006738;NM_007200 AAA58670;AAD21311;AAH50312;AAI40863;AAI71798;AAI72356;AAL11723;AAL40923;BAB62913;BAD92651;BAF98776;EAX01973;EAX01974;EAX01975;EAX01976;NP_001257475;NP_006729;NP_009131;Q12802 Hs.459211;Hs.710656 1334766;1654266;1663226;1682109;1682944;1693484;1715643;1718225;1728485;1756327;1757675;1761215;1767784;1783200;1783202;1848591;2118503;2142752;2162269;2168769;2172333;2172335;2218206;5020274;5023733;5109281 168XA11;A006F31;AKAP13__4278;AU048745;D15S932;D15S999;D1S1425;G20767;G63680;L18441;RH119267;RH122882;RH47095;RH70067;RH92626;RH92649;SHGC-143312;SHGC-145225;SHGC-146217;SHGC-148480;SHGC-149380;SHGC-53698;SHGC-58194;SHGC-58426;STS-H98167;WI-16595 AKAP-13;AKAP-Lbc;ARHGEF13;BRX;FLJ11952;FLJ43341;HA-3;Ht31;LBC;PRKA13;PROTO-LB;PROTO-LBC;c-lbc;p47 A-kinase anchor protein 13;A-kinase anchoring protein;AKAP-13;LBC oncogene;breast cancer nuclear receptor-binding auxiliary protein;guanine nucleotide exchange factor Lbc;human thyroid-anchoring protein 31;lymphoid blast crisis oncogene;non-oncogenic Rho GTPase-specific GTP exchange factor;p47;protein kinase A-anchoring protein 13 APPROVED protein-coding ENSG00000170776 371 05253 604686 REVIEWED 1312990 AKAP2 A kinase (PRKA) anchor protein 2 The protein encoded by this gene binds to the regulatory subunit of protein kinase A and is found associated with the actin cytoskeleton. The encoded protein mediates signals carried by cAMP and may be involved in creating polarity in certain signaling processes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 9 9 9 q31.3 83312619 83436417 + 111850797 111974613 + 112810878 112934792 + 2312475;2312477;6480464 14715913;19319965 17474147;19893584;20306291;18978678;18649358;17081983;16344560;15146197;14702039;12477932;11478809;10231032;9497389;12646697;12672969;11181995;22863883;21906983;22456796 11217 C9JVY5;F8WF36;Q9Y2D5 ABBA01042752;AJ420463;AK000306;AK022693;AK057098;AK300427;AK304311;AK308388;AL110268;AL158823;AL353598;AMYH01021625;AMYH01021626;BC010513;BC146863;BC171800;BE674805;CH471105;CN302358;CX872067;DA564383;DB212465;DB287164;DC422367;N51499;NG_028265;NM_001004065;NM_001136562;NM_001198656 AAI46864;AAI71800;BAG51862;BAG62154;BAG65164;CAB53707;EAW59049;EAW59050;NP_001004065;NP_001130034;NP_001185585;Q9Y2D5 Hs.591908 1656172;1699026;1700112;1704536;1711454;1727381;1749595;1753827;1755889;1779502;2122605;2185400;5105685 G36153;G47279;G63098;RH103086;RH103669;SHGC-100579;SHGC-111282;SHGC-142729;SHGC-142818;SHGC-153477;SHGC-83065;STS-AA007589;STS-AA040279 AKAP-2;AKAPKL;DKFZp564L0716;FLJ53197;FLJ98336;PALM2;PRKA2 A-kinase anchor protein 2;AKAP-2;OTTHUMP00000021891;OTTHUMP00000210714;OTTHUMP00000215854;protein kinase A anchoring protein 2;protein kinase A-anchoring protein 2;protein kinase A2 APPROVED protein-coding ENSG00000241978 372 604582 REVIEWED 1348905 AKAP3 A kinase (PRKA) anchor protein 3 This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013] 12 12 p13.3 4594937 4624604 - 4724676 4754343 - 1580863;2312475;2312477;6480464 14715913;19319965 10319321;17683036;16005946;15257753;14618620;12606363;12509440;12477932;11807172;11696326;11278869;10529264;10334916;9238861;18421703;21240291;16344560;22941507;23077236 10566 F5H2S4;F5H7P4;O75969 ABBA01048764;AC005832;AF087003;AF093408;AI004486;AK074722;AK292451;AMYH01004197;BC047535;CH471116;DB083340;NM_001278309;NM_006422;U85715 AAC35854;AAC63371;AAD21218;AAH47535;BAF85140;BAG51992;EAW88840;NP_001265238;NP_006413;O75969 Hs.98397 1676530;2108689 AKAP3_9143;RH92971 AKAP 110;AKAP110;CT82;FSP95;PRKA3;SOB1 A-kinase anchor protein 110 kDa;A-kinase anchor protein 3;A-kinase anchor protein, 110kDa;AKAP 110;AKAP-3;Fibrous Sheath Protein of 95 kDa;OTTHUMP00000238368;cancer/testis antigen 82;fibrous sheath protein, 95kDa;fibrousheathin 1;fibrousheathin I;fibrousheathin-1;protein kinase A anchoring protein 3;protein kinase A binding protein AKAP 110;protein kinase A-anchoring protein 3;sperm oocyte-binding protein 1 APPROVED protein-coding ENSG00000111254 373 05256 604689 REVIEWED 1606031 AKAP17A A kinase (PRKA) anchor protein 17A This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex and is involved in the regulation of alternate splicing in some mRNA precursors. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Sep 2010] X X;Y X;Y p22.33 and Yp11.32 5988649 5999070 + 1670486 1681413 + 1660486 1671413 + 6480464 16982639;17353931;1438229;17081983;15489334;14759258;12477932;9736779;8889548;1302606;16189514;19840947;21139048 8227 Q02040;Q05DA9 ABBA01055713;AK308367;AL683807;AMYH01022001;BC015800;BC016935;BC028151;BC110496;BC110497;BM046630;BM713425;CH471074;L03426;M99578;NG_016337;NG_021470;NM_005088;NR_027383 AAA36187;AAA61303;AAA61304;AAH16935;AAH28151;AAI10497;AAI10498;EAW98687;NP_005079;Q02040 Hs.522572 1683403;1748463;1848069;2177147;5017879 CXYorf3;DXYS155E;RH69211;SHGC-5417;SHGC-64829 721P;AKAP-17A;CCDC133;CXYorf3;DXYS155E;FLJ98315;MGC125365;MGC125366;MGC39904;PRKA17A;SFRS17A;XE7;XE7Y A-kinase anchor protein 17A;B-lymphocyte surface antigen;OTTHUMP00000022831;OTTHUMP00000022832;OTTHUMP00000022833;protein kinase A-anchoring protein 17A;pseudoautosomal gene XE7;splicing factor, arginine/serine-rich 17A APPROVED protein-coding ENSG00000197976 18783 02419 312095;465000 REVIEWED 732830 AKAP4 A kinase (PRKA) anchor protein 4 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] X X X p11.2 54024511 54034765 - 49842151 49852404 - 49955411 49965664 - 1580863;2312475;2312477;6480464 14715913;19319965 9822690;12509440;17712481;17683036;15772651;15489334;12606363;12477932;11807172;11476771;9852104;9514854;9238861;21520158 8852 A6ND82;Q5JQC9 ABBA01063330;ABBA01063331;AC235789;AF072756;AK292463;AL663119;AMYH01022326;AMYH01022327;BC033007;BC070150;BC126250;BC126252;CH471180;HC006776;HC044697;NG_012552;NM_003886;NM_139289;Y15195 AAC79433;AAI26251;AAI26253;BAF85152;CAA75494;CBH19194;CBH30678;EAW89924;EAW89925;EAW89926;NP_003877;NP_647450;Q5JQC9 Hs.97633 1686470;2107819;5022798 AKAP4;AKAP4_8867;RH92753 AKAP 82;AKAP-4;AKAP82;CT99;FSC1;HI;PRKA4;hAKAP82;p82 75 kda fibrous sheath protein;A-kinase anchor protein 4;A-kinase anchor protein 82 kDa;OTTHUMP00000023288;OTTHUMP00000023289;OTTHUMP00000023290;OTTHUMP00000023291;cancer/testis antigen 99;major sperm fibrous sheath protein;protein kinase A anchoring protein 4;protein kinase A-anchoring protein 4;testis-specific gene HI APPROVED protein-coding ENSG00000147081 374 02173 300185 REVIEWED 1345297 AKAP5 A kinase (PRKA) anchor protein 5 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008] 14 14 q23.3 64001970 64010974 + 64932217 64941221 + 1580863;2313287;2312475;2312477;2313290;2313247;6480464 10460255;14715913;19319965;11248077;12542670 22693956;12507994;12477932;12177200;12114507;12077483;11886862;11823486;11807172;11557526;11287423;11179200;10939335;10762347;10753752;10537145;10037748;9765270;9238861;9202019;8509414;7528941;1860836;1733921;1618839;1512224;18950703;18305116;17548344;16973443;16940053;16344560;15671033;12938160;12672969;12595241;17081159;18311135;20410303;20883492;21156788;21464287;21221125;23699529;21771783;21139048;22343722;23264624;22623657;23383244;23455922;23616546;22677788 9495 P24588;Q6PG46 ABBA01018362;AK315336;AL122035;AMYH01005799;BC057229;BC131516;CH471061;DA942424;M90359;NM_004857 AAA58363;AAH57229;AAI31517;BAG37736;EAW80862;NP_004848;P24588 Hs.656683 1669365;1776335;2136104;2218210;5014051;5015961;5016596;5022200;5037552;5116670 AKAP5__4279;D15S1477;D8S2278;D8S2279;G35386;GDB:631802;L18426;RH17748;SHGC-24381;sY3122 AKAP75;AKAP79;H21 A-kinase anchor protein 5;A-kinase anchor protein 79 kDa;A-kinase anchor protein, 79kDa;A-kinase anchoring protein 75/79;AKAP 79;AKAP-5;OTTHUMP00000174435;cAMP-dependent protein kinase regulatory subunit II high affinity binding protein;cAMP-dependent protein kinase regulatory subunit II high affinity-binding protein APPROVED protein-coding 375 05255 604688 REVIEWED 69458 AKAP6 A kinase (PRKA) anchor protein 6 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008] 14 14 14 q12 12665076 13167767 + 31868274 32372018 + 32798479 33302268 + 1580863;2312475;2312477;68716;6480464 14715913;19319965;11296225 19109240;10413680;10830164;7721854;17923693;15342556;14702039;12754202;12477932;12168954;11807172;11352932;9238861;9205841;12672969;20677014;21079607;17474147;20106966;11299204;11590243;16177794;17110338;21150319;9679148;15840729;17043677;22566634;22581228 9472 A7E242;B2RP22;G3V3B5;G3V3H2;G3V3H6;G3V3H7;G3V569;H0YJT7;Q13023 AB002309;ABBA01061432;ABBA01061433;ABBA01061434;ABBA01061435;ABBA01061436;AK094160;AL049781;AL117672;AL132988;AL136298;AMYH01005645;AMYH01005646;BC137232;BC137233;BC150185;BC150288;BC154413;BP230135;CH471078;NM_004274;U17195 AAA92354;AAI37233;AAI37234;AAI50186;AAI50289;AAI54414;BAA20770;EAW65931;EAW65932;EAW65933;NP_004265;Q13023 Hs.509083 1341133;1654236;1655120;1663304;1688312;1709950;1719371;1736464;1772328;1772389;1774223;2141563;2160398;2218984 AKAP6__4280;D14S121;D14S1236;D14S717E;G17798;G36054;L18177;RH123413;RH45526;RH69589;RH91259;SHGC-37333;SHGC-82243;WI-14096 ADAP100;ADAP6;AKAP100;KIAA0311;MGC165020;PRKA6;mAKAP A-kinase anchor protein 100 kDa;A-kinase anchor protein 6;AKAP 100;AKAP-6;OTTHUMP00000178791;OTTHUMP00000244101;OTTHUMP00000244103;protein kinase A anchoring protein 6;protein kinase A-anchoring protein 6 APPROVED protein-coding ENSG00000151320 376 05257 604691 REVIEWED 1350760 AKAP7 A kinase (PRKA) anchor protein 7 This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011] 6 6 6 q23 132213109 132351308 + 131508154 131646366 + 131456826 131604675 + 1580863;2312475;2312477;2312630;1303982;2312656;6480464 14715913;19319965;17901878;15037626;18431594 9545239;10613906;18082768;17244820;15489334;14574404;12804576;12672969;12477932;22670899;17643375;19615732;20379614;16344560;23502783;11299204;23455922 9465 F5GXD1;F5H4P9;H0YH01;J3KN37;O43687;Q2TAJ5;Q6P4D3;Q9P0M2 AB451273;AB451400;ABBA01025896;AF152929;AF161075;AK290271;AK300587;AK311820;AL136110;AL137063;AL137222;AMYH01016673;AMYH01016674;AW236482;BC016927;BC063499;BC073847;BC094732;BC110897;BC118601;BC118606;BC128398;BC128399;BC141926;BC141927;CH471051;DA144596;DN998807;NG_029123;NM_004842;NM_016377;NM_138633 AAF26676;AAF28106;AAH16927;AAH63499;AAH73847;AAH94732;AAI10898;AAI18602;AAI18607;AAI28399;AAI28400;AAI41927;AAI41928;AAI52941;AAI56907;BAF82960;BAG34762;BAG62285;BAG70087;BAG70214;EAW48057;EAW48058;EAW48059;EAW48060;NP_004833;NP_057461;NP_619539;O43687;Q9P0M2 Hs.486483;Hs.732515 1338849;1658069;1681324;1763529;1852545;1856918;2156479;2166896;2191487;5019623 A005L17;D11S2302E;D6S1214E;D6S435;G32235;MARC_23907-23908:1042828544:1;RH26812;RH78380;SHGC-147229;SHGC-1826 AKAP15;AKAP18 A-kinase anchor protein 18 kDa;A-kinase anchor protein 7 isoform alpha;A-kinase anchor protein 7 isoform gamma;A-kinase anchor protein 7 isoforms alpha and beta;A-kinase anchor protein 7, isoform alpha;A-kinase anchor protein 9 kDa;A-kinase anchor protein, 18-kD;A-kinase anchoring protein 18;AKAP 18;AKAP-7 isoform gamma;AKAP-7 isoforms alpha and beta;OTTHUMP00000017200;OTTHUMP00000017201;OTTHUMP00000017202;OTTHUMP00000239966;PRKA7 isoform gamma;PRKA7 isoforms alpha/beta;protein kinase A anchoring protein 7;protein kinase A-anchoring protein 7 isoform gamma;protein kinase A-anchoring protein 7 isoforms alpha/beta APPROVED protein-coding ENSG00000118507 377 16065 604693 REVIEWED 731444 AKAP8 A kinase (PRKA) anchor protein 8 This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other signaling molecules to specific subcellular locations. This gene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011] 19 19 p13.1 15325335 15351603 - 15464332 15490612 - 1580863;2312475;2312477;6480464 14715913;19319965 9473338;18029348;17081983;16964243;16227597;15302935;15057824;14743216;14641107;12740381;12477932;12414807;11964380;11807172;11279182;10791967;10601332;9238861;21145461;15470020;19277197;21182205;22990118;20508642;21252943;17314511;19322201;20360068;22446626;17400507;22944692 10270 M0QX51;M0QYL4;O43823 ABBA01051110;AC005785;AC093060;AI581319;AK303640;AK308251;AK309529;AL050160;AMYH01009549;AMYH01009550;AMYH01009551;BC037270;CA429585;CH471106;DR005936;NM_005858;Y11997 AAC62838;AAH37270;BAH14004;CAA72722;CAB43301;EAW84474;NP_005849;O43823 Hs.743430 1699724;2107821;2148325;2186052;5017803 AKAP8;AKAP8_9079;RH103467;RH48708;WI-17314 AKAP 95;AKAP-8;AKAP-95;AKAP95;DKFZp586B1222 A-kinase anchor protein 8;A-kinase anchor protein 95 kDa;A-kinase anchor protein, 95kDa;AKAP 95;AKAP-8 APPROVED protein-coding ENSG00000105127 378 05258 604692 REVIEWED 1604680 AKD1 adenylate kinase domain containing 1 6 q21 109955525 109978433 - 12477932;11181995 401271 E9PPM3;E9PPU7;F8WBV8;H0Y8C5;H0YCD1;H7C505;H7C517;J3KP89 AK131244;AL109947;AL121788;AL139391;BC087860;CH471051;NM_001001706;NM_001146303 AAH87860;AAI46444;AAI53056;BAD18424;EAW48336;NP_001001706;NP_001139775;Q6ZNF1 Hs.205144 1679764;1715447;1718753;2113814 AB069993;RH120887;RH123066;RH94382 FLJ42177 protein-coding 33814 16957 2300995 AKIRIN2-AS1 AKIRIN2 antisense RNA 1 6 6 6 q15 88828036 88828949 - 88466739 88467652 - 88410020 88410933 - 6480464 55389 AL133211;AL525197;BX101313;CH471051;NR_002767 EAW48579 Hs.485915 NCRNA00120;PRO2266 APPROVED miscrna 28822 1354002 AKD2 adenylate kinase domain containing 2 6 q21 110059592 110119113 - 6480464 16344560;14702039;12477932 221264 Q8N7C6 AK055538;AK124171;AK315561;AL121788;AL133472;AL832162;BC022031;CH471051;DA106296;DW009925;NG_007977;NM_001145128;NM_145025 AAH22031;ACE86533;ACE87212;BAB70945;BAG37937;CAI19667;CAI19668;CAI22498;CAI22499;CAI22500;EAW48333;EAW48334;EAW48335;NP_001138600;NP_659462;Q5TCS8;Q5TDU3 Hs.486169 C6orf199;FLJ34784;FLJ42177;MGC26954;RP1-70A9.1;dJ70A9.1 protein-coding 21618 12871 1349720 AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008] 7 7 q21-q22 91408128 91577925 + 91570189 91739987 + 631928;1580863;2312475;2312477;6480464;7240710 9482789;14715913;19319965 10390370;10202149;19242490;19086053;19073175;18334708;18093912;17352745;16741161;16356588;16339516;16198290;15670215;15630448;15047863;14982933;14702039;12853948;12690205;12477932;12270714;12221128;12163479;12036294;12015314;11799244;10945988;10862698;10358086;9915845;9872452;12672969;11076968;12852856;16462731;16980960;17148452;18029348;20106900;20231423;20379614;20453000;7790358;20952690;21606206;21374596;21988832;17043677;18239623;21139048;21890473;21931171;20301308;18643869;20466722;22190034;22778270;22908311 10142 H0Y6Q0;H7BYL6;H7BZV6;Q5GIA7;Q6PJH3;Q9UQH3 AACC02000014;AB018346;AB019691;ABBA01045811;ABBA01045812;ABBA01045813;ABBA01045814;ABBA01045815;ABBA01045816;ABBA01045817;AC000066;AC000120;AC003086;AC004013;AF026245;AF083037;AF091711;AF247727;AJ010770;AJ131693;AK000270;AK025160;AK026444;AK057546;AK074869;AL117418;AMYH01017688;AMYH01017689;AY528715;BC015533;BC027455;BC040932;BC062448;CH236949;CH471091;CR997756;NG_011623;NM_005751;NM_147185 AAB86384;AAB96867;AAC60380;AAD22767;AAD39719;AAH15533;AAH40932;AAK51115;AAS07419;AAT44400;BAA34523;BAA78718;BAG52021;CAA09361;CAB40713;CAB55912;EAL24155;EAL24156;EAL24157;EAL24158;EAW76860;EAW76861;EAW76862;EAW76863;EAW76864;EAW76865;EAW76866;EAW76867;EAW76868;NP_005742;NP_671714;Q99996 Hs.651221 1339654;1646788;1655710;1667910;1691312;1691444;1691446;1691448;1691450;1691452;1691454;1695046;1772034;1786194;2133617;2139016;2155593;2166065;5109667;5118444;5491577 D11S3316;D7S1789;D7S2153E;D7S2313;D7S2653;D7S2654;G31811;G31814;G42119;G42120;G42121;G42122;G42123;G42124;G44753;MARC_21662-21663:1033410511:1;RH68133;RH80300;SHGC-105142;SHGC-31096;SHGC-36444 AKAP-9;AKAP350;AKAP450;CG-NAP;HYPERION;KIAA0803;LQT11;MU-RMS-40.16A;PPP1R45;PRKA9;YOTIAO A-kinase anchor protein 350 kDa;A-kinase anchor protein 450 kDa;A-kinase anchor protein 9;AKAP 120-like protein;AKAP9-BRAF fusion protein;OTTHUMP00000161771;centrosome- and Golgi-localized PKN-associated protein;kinase N-associated protein;protein hyperion;protein kinase A anchoring protein 9;protein phosphatase 1, regulatory subunit 45;protein yotiao APPROVED protein-coding ENSG00000127914 379 04921 604001;611820 REVIEWED 1347470 AKAP8L A kinase (PRKA) anchor protein 8-like 19 19 p13.12 15351859 15390833 - 15490859 15529833 - 1580863;6480464 10748171;17353931;18313049;10761695;17594903;16391387;15489334;21145461;15302935;14743216;14702039;12950172;12538639;12477932;12107412;11402034;11034899;10697960;9853615;8889548;8125298;22990118;17314511;21252943;18457437;20360068;21139048;21890473;21906983;22190034 26993 M0QXD2;M0QYT7;M0QZQ9;M0R008;M0R010;M0R1L5;M0R1Y5;Q9ULX6 AB015332;AB025905;AB451326;AB451469;ABBA01051110;ABBA01051111;ABBA01051112;AC005785;AC006128;AF199414;AJ243467;AK001594;AK094736;AK225046;AK225291;AK295956;AK310990;AL133576;AMYH01009551;AMYH01009552;BC000713;BI458860;BM726437;BQ006924;BQ185989;BU740636;CD672169;CH471106;NM_014371 AAF86048;AAH00713;ABM82779;ABM85969;BAA34791;BAA85003;BAG50946;BAG58736;BAG70140;BAG70283;CAB63723;CAB65092;EAW84475;EAW84476;EAW84477;EAW84478;NP_055186;Q9ULX6 Hs.399800 1699724;1700124;1725091 RH103467;RH103675;RH118841 DKFZp434L0650;HA95;HAP95;NAKAP;NAKAP95 A-kinase anchor protein 8-like;AKAP8-like protein;helicase A-binding protein 95 kDa;homologous to AKAP95 protein;neighbor of A kinase anchoring protein 95;neighbor of A-kinase anchoring protein 95;neighbor of A-kinase-anchoring protein 95;neighbor of AKAP95 protein-coding ENSG00000011243 29857 10641 609475 VALIDATED 1606232 AKIRIN1 akirin 1 1 1 1 p34.3 37736663 37751818 + 39229504 39243566 + 39456916 39471737 + 6480464 16710414;15489334;14702039;12477932;8125298;18066067;19322201;18029348 79647 B4DQP0;H0YEQ5;Q9H9L7 ABBA01023227;ABBA01023228;AK022728;AK092624;AK124799;AK126262;AK223276;AK298890;AK303098;AL606465;AMYH01000516;AY326465;BC001498;BC119745;BC119746;CH471059;DB727813;NM_001136275;NM_024595 AAI19746;AAI19747;AAR99515;BAB14208;BAD96996;BAG61002;BAG64208;EAX07283;EAX07284;EAX07285;NP_001129747;NP_078871;Q9H9L7 Hs.293563 1655576;1689440;1691034;1693210;1788762;1849222 A004A36;AL033558;RH130590;RH64534;RH64664;RH80001 C1orf108;FLJ12666;RP11-781D11.2;STRF2 OTTHUMP00000008669;OTTHUMP00000232306;OTTHUMP00000232307;OTTHUMP00000232308;akirin-1 protein-coding ENSG00000174574 25744 07787 615164 VALIDATED 1317844 AKNA AT-hook transcription factor 9 9 9 q32 87744104 87804342 - 116136250 116196506 - 117096429 117156685 - 6480464 15869410;14702039;12477932;11853319;11268217;16000308;20507260;19913121;20628086;21297967;21139048;21890473 80709 Q64FY1;Q64FY2 AB075848;ABBA01042667;ABBA01042668;ABBA01042669;AF286341;AK024431;AK055563;AK074040;AK090503;AK098036;AK126136;AK131082;AK160382;AL356796;AL713755;AL833220;AMYH01021673;AMYH01021674;AY703039;AY703040;AY703041;AY703042;AY703043;AY703044;AY703045;AY703046;BC042202;BC055285;CH471090;NM_030767 AAH42202;AAH55285;AAK83024;AAU34186;AAU34187;AAU34188;AAU34189;AAU34190;AAU34191;AAU34192;AAU34193;BAB15721;BAB84866;BAB85554;BAC85132;BAD18725;EAW87418;EAW87419;NP_110394;Q7Z591 Hs.494895 1656047;1661142;1677150;1849057;2122571;5020740;5020948;5022578;5024413;5024516;5037740 D13S1568;D1S1423;D1S3691;G17343;G30174;G35510;L17809;L17877;RH65860;RH98264;STS-X05784 FLJ31001;FLJ33184;KIAA1968;RP11-82I1.4 AKNA transcript F2;AT-hook transcription factor AKNA;AT-hook-containing transcription factor;OTTHUMP00000021973;OTTHUMP00000021974;OTTHUMP00000123514 protein-coding ENSG00000106948 24108 16148 605729 VALIDATED 7240879 AKR1B10P1 aldo-keto reductase family 1, member B10 pseudogene 1 10 q21.3 69510042 69510987 + 340888 ABBA01019548;AL607022;AMYH01002794;NG_022180 pseudo 45062 INFERRED 7240883 AKR1B10P2 aldo-keto reductase family 1, member B10 pseudogene 2 643582 ABBA01056269;AC005909;AMYH01009071;NG_022495 1783754 SHGC-172083 pseudo 45063 INFERRED 1315871 AKIP1 A kinase (PRKA) interacting protein 1 This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] 11 11 11 p15.3 9052466 9061391 + 8889277 8898202 + 8932701 8941626 + 6480464 15630084;18178962;15489334;14702039;12527432;12477932;11528127;19913121;20628086;17207965;20562110;15342556;16998474;22990118;18624398;8889548;19322201 56672 B4DGE2;E9PN38;E9PNI1;E9PPN7;H0YCH8;Q9NQ31 ABBA01061203;AC026894;AF493783;AF493784;AF493785;AF493786;AF512007;AJ400877;AK075308;AK294506;AK294549;AMYH01003377;AW340643;BC030996;BM706322;BP355293;CH471064;CQ783908;DB570956;NG_030417;NM_001206646;NM_001206647;NM_001206648;NM_020642;NR_045417;NR_045418 AAH30996;AAM12862;AAM12863;AAM12864;AAM12865;AAM12866;AAM12867;AAM34785;ADQ32228;BAC11537;BAG57722;BAG57753;CAB92290;CAF86919;EAW68614;EAW68615;EAW68616;NP_001193575;NP_001193576;NP_001193577;NP_065693;Q9NQ31 Hs.131180 1685131;2116397;5014051;5037552 D8S2278;D8S2279;RH93941;SHGC-76220 BCA3;C11orf17 A-kinase-interacting protein 1;OTTHUMP00000230630;OTTHUMP00000230631;OTTHUMP00000230632;OTTHUMP00000230633;OTTHUMP00000230634;OTTHUMP00000230635;OTTHUMP00000230636;OTTHUMP00000230637;OTTHUMP00000230638;OTTHUMP00000230639;OTTHUMP00000230640;PKA-interacting protein;breast cancer associated gene 3;breast cancer-associated gene 3 protein;koyt binding protein 1;koyt binding protein 2;koyt binding protein 3;proline-rich protein BCA3;protein kinase A-interacting protein 1 APPROVED protein-coding ENSG00000166452 1170 12380 609191 REVIEWED 1317188 AKIRIN2 akirin 2 6 6 6 q15 88802600 88830001 - 88441693 88468645 - 88384578 88411985 - 2306009;6480464 18460465 18066067;17081983;16189514;15489334;14702039;14574404;12477932;8125298;23382074;21139048;19322201 55122 Q53H80;Q9NW35 ABBA01040504;AK001204;AK222701;AL133211;AMYH01016494;BC000764;BC003042;BC005051;BM996262;CH471051;CQ859732;NM_018064 AAH00764;AAH03042;AAH05051;BAA91551;BAD96421;CAH25916;EAW48578;NP_060534;Q53H80 Hs.485915 C6orf166;FBI1;FLJ10342;dJ486L4.2 OTTHUMP00000016836;akirin-2;fourteen-three-three beta interactant 1 protein-coding ENSG00000135334 21407 12864 615165 VALIDATED 1604964 AKNAD1 AKNA domain containing 1 This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 1 1 1 p13.3 107628098 107669293 - 109160046 109201239 - 109358520 109400864 - 6480464 21832049;14702039;12477932;20379614;18029348;16344560 254268 B4DET8;F2Z2Q7;Q5T1N1;Q5T1N2 ABBA01068354;ABBA01068355;AK095517;AK313772;AL449266;AL832216;AMYH01000926;BC030647;BC150642;CH471122;DB054557;NG_032762;NM_152763;NR_049760 AAH30647;AAI50643;ABM82553;ABM85744;BAC04565;BAG36510;EAW56333;EAW56334;EAW56335;EAW56336;EAW56337;EAW56338;NP_689976;Q5T1N1 Hs.729441;Hs.744647 C1orf62;MGC26989;RP11-475E11.3 OTTHUMP00000012936;OTTHUMP00000012937;OTTHUMP00000013003;OTTHUMP00000013004;protein AKNAD1 APPROVED protein-coding ENSG00000162641 28398 11325 REVIEWED 1345706 AKR1B1P1 aldehyde reductase family 1, member B1 pseudogene 1 1 1 1 q42.12 197952705 197953892 + 222828759 222829714 + 224762103 224763290 + 8244370 401982 ABBA01009684;AC096537;AMYH01001769;NG_006432 ALDRL1 pseudo 420 INFERRED 1351686 AKR1B1P3 aldo-keto reductase family 1, member B1 pseudogene 3 11 11 11 p15.1 16632370 16633567 - 16461835 16462794 - 16505059 16506256 - 8244370 729347 ABBA01061086;AC100865;AMYH01003408;NG_007132 ALDRL3 pseudo 422 INFERRED 1343467 AKR1B1P2 aldo-keto reductase family 1, member B1 pseudogene 2 3 3 3 p12 74120460 74122119 + 74267571 74269166 + 74185078 74186739 + 8244370;1612607 236 ABBA01030975;AC117458;AMYH01013285;M84454;NG_001071 1743081 GDB:251788 ALDRP pseudo 425 INFERRED 3207496 AKR1B1P6 aldo-keto reductase family 1, member B1 pseudogene 6 18 18 18 p11.22 8429987 8431097 + 8535647 8536757 + 8545647 8546757 + 100129769 ABBA01049934;AMYH01008798;AP001793;NG_017129 pseudo 33498 INFERRED 1349917 AKR1B1P4 aldo-keto reductase family 1, member B1 pseudogene 4 13 13 13 q14.13 27316188 27317297 - 45159720 45160607 - 46261525 46262634 - 8244370 390402 ABBA01050980;AL139320;AMYH01005092;NG_006989 ALDRL4 pseudo 423 INFERRED 1345288 AKR1B1P5 aldo-keto reductase family 1, member B1 pseudogene 5 14 14 14 q23.1 39651600 39652860 - 58671955 58672890 - 59601909 59603169 - 390482 ABBA01018269;AL359219;AMYH01005764;NG_007013 AKR1B1P pseudo 20002 INFERRED 1626553 AKR1B1P8 aldo-keto reductase family 1, member B1 pseudogene 8 X X X q23 115962985 115963926 - 115088764 115089705 + 115174736 115175677 + 392525 ABBA01049289;AL772226;AMYH01022870;BX546470;NG_009682 pseudo 33496 INFERRED 1626550 AKR1B1P7 aldo-keto reductase family 1, member B1 pseudogene 7 19 19 19 q13.11 30544773 30545941 - 38543243 38544192 - 33851203 33852371 - 126242 ABBA01012594;AC008744;AMYH01009704;NG_009664 2155654 GDB:4585363 pseudo 33497 INFERRED 68486 AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011] 1 1 p33-p32 45789085 45808308 + 46016455 46035723 + 1300048;6480464;6907045 2498333;15231747;19423521;18676680;18495158;17149600;16543247;15769597;15489334;15299353;12477932;11716357;11444797;10510318;10486210;10393438;9693960;8405190;8268209;7827091;7669785;3615425;2113526;1901806;1602151;19170196;19625176;19692168;20453000;16344560;21276435;21044950;21139048;21906983;23643085 10327 P14550;Q5T621 ABBA01050863;ABBA01050864;AF036683;AF112482;AF112485;AK293083;AK307068;AK307237;AK307288;AL355480;AMYH01000574;AU142853;BC000670;BC005394;BC033287;BI549149;BT007003;BU631634;CH471059;CR457010;CX788871;DA550374;DA871469;J04794;NM_001202413;NM_001202414;NM_006066;NM_153326 AAA51711;AAB92369;AAF01260;AAH00670;AAH05394;AAP35649;ABM81608;ABM84696;ABM84791;BAF85772;CAG33291;EAX06970;EAX06971;EAX06972;EAX06973;EAX06974;NP_001189342;NP_001189343;NP_006057;NP_697021;P14550 Hs.474584;Hs.721160 1660695;1742059;1754485;2132167;5014051;5015619;5021872;5023391;5037552 D11S3114;D1S3175;D8S2278;D8S2279;GDB:190072;RH71342;SHGC-132757;SHGC-74752;sY3084 ALDR1;ALR;ARM;DD3;MGC12529;MGC1380 OTTHUMP00000009240;OTTHUMP00000009241;alcohol dehydrogenase;alcohol dehydrogenase [NADP(+)];alcohol dehydrogenase [NADP+];aldehyde reductase;aldo-keto reductase family 1 member A1;dihydrodiol dehydrogenase 3 APPROVED protein-coding ENSG00000117448 380 00069 103830 REVIEWED 3516654 AKR1B15 aldo-keto reductase family 1, member B15 7 7 7 q33 128971267 129002011 + 133900773 133914841 + 134233849 134264592 + 6480464 20834067;12477932;12690205;20877624;21276782;22277967 441282 C9JRZ8 AACC02000025;ABBA01001110;AC078847;AMYH01017954;BC072676;BX335355;CH236950;CH471070;NM_001080538 C9JRZ8;EAL24068;EAW83819;NP_001074007 Hs.729418 AKR1B10L OTTHUMP00000207847;aldo-keto reductase family 1 member B15;aldo-keto reductase family 1, member B10-like;aldo-keto reductase family 1, member B15;putative aldo-keto reductase family 1 member B15 protein-coding ENSG00000227471 37281 VALIDATED 7175943 AKR1C5P aldo-keto reductase family 1, member C5, pseudogene 10 5164273 5177418 - 100996684 ABBA01035202;ABBA01035203;AL391427;AMYH01001995 pseudo 44679 MODEL 732178 AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009] 7 7 q35 133777647 133794428 - 134127107 134143888 - 1626081;1626080;1626089;1626092;734542;1599728;1626082;1626083;1626084;1626087;1626088;1626079;1300048;1580863;6480464;6907045 16127462;17003340;16900242;16567803;9215310;16936110;12505670;17444799;17409277;17030682;16979157;17211565 21182935;8645003;2112546;17353931;8435445;19422879;19420105;18716049;18495158;18451330;18434430;18385795;17968325;17851230;17563730;17418233;17270157;17139089;17018629;16936152;16911628;16701918;16620264;16545977;16176189;16174723;16021519;15973199;15745835;15637423;15569136;15504980;15489334;15284221;15284219;15277434;15270790;15251463;15231748;15181092;15162486;14996095;14694018;14694017;14662023;14582038;12690205;12660865;12604221;12486717;12477932;12446366;11958479;11874426;11842041;11796181;11499839;11449315;11444797;11306081;11182213;11095596;10510318;10075698;9565553;9405046;9195951;8877273;8615700;8405190;8347133;8343525;8281941;8268209;8245005;8234324;7789640;6417042;2510130;2504709;2498333;2492527;2111143;1901857;1901827;1621098;1447221;21294693;15862967;16928730;19273550;19850041;20093363;20150532;20353610;20424224;18029348;21067489;21067572;20354121;15583024;19760097;19821053;20943776;19913121;20628086;19847669;21084309;21306562;22658411;22939629;21420193;22844269;21329682;21329684;23146748;21963094;22561432;23000965;23106098;21409599;21637955;21853274;22505724;20639865;21139048;21890473;21906983;21987572;22360420;22649481;23029549 231 E9PCX2;E9PEF9;P15121 AACC02000025;AB209796;ABBA01001109;AC078847;AF032455;AF328729;AK311339;AK313439;AL833410;AMYH01017953;BC000260;BC005387;BC010391;BT019859;CH236950;CH471070;CR450351;CR542203;HH961838;J04795;J05017;J05474;M34720;M34721;M59783;NM_001628;U72619;X15414 AAA35560;AAA35561;AAA51712;AAA51713;AAA51714;AAA51715;AAB61992;AAB88851;AAH00260;AAH05387;AAH10391;AAN09721;AAV38662;ABM81684;ABM83472;ABM84847;ABM86683;BAD93033;BAG36230;CAA33460;CAG29347;CAG47000;CBX51392;EAL24070;EAW83814;EAW83815;NP_001619;P15121 Hs.521212 2107823;2155654;2166727;5014051;5015619;5022651;5024092;5037552;5109281;5115477 AKR1B1_8199;ALDR1;D11S2921;D11S3114;D1S1425;D8S2278;D8S2279;GDB:4585363;J05017;WI-18828 ADR;ALDR1;ALR2;AR;MGC1804 Lii5-2 CTCL tumor antigen;OTTHUMP00000207727;OTTHUMP00000207728;aldehyde reductase 1;aldehyde reductase 1 (low km aldose reductase) (5.8 kb psti fragment, probably the functional gene);aldo-keto reductase family 1 member B1;aldose reductase;low Km aldose reductase APPROVED protein-coding ENSG00000085662 381 00071 103880 REVIEWED 7176848 AKR1C6P aldo-keto reductase family 1, member C6, pseudogene 10 p15.1 4913859 4958465 - 6480464 10672042;16344560;16712791 389932 AB037902;AB037903;AB037905;ABBA01035203;AC091817;AMYH01001994;CB111913;CS300815;DA643129;NR_026743 BAA92887;BAA92888;BAA92889;BAA92890;CAK32479 Hs.631812 1753721 SHGC-107770 TAKR pseudo 44680 VALIDATED 7176336 AKR1C7P aldo-keto reductase family 1, member C7, pseudogene 10 p15.1 5317169 5327888 - 648947 ABBA01035199;AL355303;AMYH01002000;NG_023403 1335493;1648129 D10S1713;D22S667 pseudo 44681 INFERRED 1317959 AKR1B10 aldo-keto reductase family 1, member B10 (aldose reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008] 7 7 q33 133862939 133876700 + 134212344 134226166 + 1580863;2311149;2311151;2311150;6480464;6903952;6903957;6907045 15563966;12706323;15318096;20709016;16970545 19028477;18788756;18396902;18358633;18325492;18087047;17905306;17597105;17425679;17300864;17209433;16204895;16127462;15936242;15928807;15745835;15489334;12882871;12732097;12477932;12365083;11703436;9765596;9537432;8889548;19236911;9565553;18056116;19563777;19464995;21044950;22222635;19913121;20628086;19643728;20007578;20036025;21317765;20586184;20705797;22681639;21277289;21329684;21585341;21645211;21672310;23146748;20943077;22014576;22329800;22498646;23438482 57016 O60218 AACC02000025;ABBA01001110;AC078847;AF044961;AF052577;AF524864;AMYH01017954;BC008837;BM975664;BT006794;CH236950;CH471070;CR541801;NM_020299;U37100 AAC15671;AAC17469;AAC36465;AAH08837;AAO13380;AAP35440;ABM81604;ABW03272;CAG46600;EAL24069;EAW83816;NP_064695;O60218 Hs.116724 5014023 D13S1553 AKR1B11;AKR1B12;ALDRLn;ARL-1;ARL1;HIS;HSI;MGC14103 ARP;OTTHUMP00000207788;SI reductase;aldo-keto reductase family 1 member B10;aldo-keto reductase family 1, member B11 (aldose reductase-like);aldose reductase-like 1;aldose reductase-like peptide;aldose reductase-related protein;hARP;small intestine reductase APPROVED protein-coding ENSG00000198074 382 05271 604707 REVIEWED 1345885 AKR1D1P1 aldo-keto reductase family 1, member D1 pseudogene 1 1 1 1 q24 140598070 140614609 + 165755400 165756447 + 167488787 167505324 + 11342103;10343119 80701 ABBA01047243;AF283650;AL031733;AMYH01001484;NG_002683 2120828 WI-15523 AKR1D1P;SRD5BP1 steroid-5-beta-reductase, beta polypeptide pseudogene 1 APPROVED pseudo 11288 VALIDATED 1347108 AKR1C4 aldo-keto reductase family 1, member C4 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008] 10 10 p15.1 5228798 5250912 + 5238798 5260910 + 1580863;6480464;6907045 11158055;7650035;8172617;2187532;19013211;18676680;17207797;16344854;15987428;15489334;15164054;12544512;12477932;12220531;11284743;10672042;10634139;8274401;7789999;7626489;1530633;16385451;19170196;19625176;19692168;20201926;20214802;21521174;22356824;21570127;19487289 1109 AAB47003;P17516 AB031085;AB032163;AB045829;ABBA01035201;AK314988;AL355303;AMYH01001995;BC020744;CH471072;D26125;D89962;HH961842;M33375;NG_031872;NM_001818;S68287 AAA35658;AAB47003;AAD14010;AAH20744;ABM82350;ABM85524;BAA05122;BAA92885;BAA92893;BAA99542;BAB43901;CBX51394;EAW86450;NP_001809;P17516 Hs.567245 1775274;2154306;5097053;5113286 G62081;RH44128;STS-S68287;STS-T62885 3-alpha-HSD;C11;CDR;CHDR;DD-4;DD4;HAKRA;MGC22581 3 alpha-hydroxysteroid dehydrogenase/dihydrodiol dehydrogenase 4;3-alpha-HSD1;3-alpha-hydroxysteroid dehydrogenase type I;DD-4;OTTHUMP00000018997;aldo-keto reductase family 1 member C4;chlordecone reductase;chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4;dihydrodiol dehydrogenase 4;dihydrodiol dehydrogenase isozyme DD4;type I 3-alpha-hydroxysteroid dehydrogenase APPROVED protein-coding ENSG00000198610 387 07040 600451;614279 REVIEWED 1315695 AKR1C1 aldo-keto reductase family 1, member C1 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008] 10 10 p15-p14 4995454 5010158 + 5005454 5020158 + 1580863;1626148;6480464;6907045 15494612 16361083;16338060;15492289;15489334;15212687;15164054;13678667;12899831;12733716;12579257;12477932;11956619;11514561;11013348;10672042;10510318;8573067;8274401;8172617;8132567;8011662;7626489;7515059;8486699;7789999;16079077;19487289;19423521;19218247;18984031;18654764;17945194;17697149;17618725;17149600;16543247;16712791;20689807;16385451;19320734;19696165;19846565;20201926;20673851;20727920;21217827;21232532;21521174;19738201;23165153;23183084;18624398;19442656;21900206;22064385;22278827;22566634 1645 A6NHU4;H0Y804;Q04828 AB031083;AB032150;ABBA01035203;AC091817;AK310658;AL713867;AMYH01001994;BC015490;BC020216;BC040210;BM923712;BT007197;CB119749;D26124;M86609;NM_001353;S68290;U05684;U05861 AAA16227;AAA18115;AAB02880;AAD14012;AAH15490;AAH20216;AAH40210;AAP35861;ABM82410;ABM84849;BAA05121;BAA92883;BAA92886;NP_001344;Q04828 Hs.460260 1646803;1683649;1684538;1781868;2157929;5125451 RH11162;RH92273;SHGC-100143;SHGC-12403;STS-R98791;STS-U05861 2-ALPHA-HSD;20-ALPHA-HSD;C9;DD1;DD1/DD2;DDH;DDH1;H-37;HAKRC;HBAB;MBAB;MGC8954 20 alpha-hydroxysteroid dehydrogenase;20-alpha-hydroxysteroid dehydrogenase;DD1/DD2;HBAB;OTTHUMP00000018992;OTTHUMP00000018993;aldo-keto reductase C;aldo-keto reductase family 1 member C1;chlordecone reductase homolog HAKRC;dihydrodiol dehydrogenase 1;dihydrodiol dehydrogenase 1/2;dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase;dihydrodiol dehydrogenase isoform DD1;hepatic dihydrodiol dehydrogenase;high-affinity hepatic bile acid-binding protein;indanol dehydrogenase;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase;type II 3-alpha-hydroxysteroid dehydrogenase APPROVED protein-coding 384 07194 600449 REVIEWED 1316753 AKR1CL1 aldo-keto reductase family 1, member C-like 1 10 10 10 p15.1 5136630 5167354 - 5186655 5217150 - 5196655 5227150 - 6480464 15164054;12477932 340811 C9J5T8;H7C0B9;H7C4R4;Q5T2L2 ABBA01035201;ABBA01035202;AK131335;AL355303;AMYH01001995;BC101204;BC101205;CH471072;NR_027916 AAI01205;AAI01206;BAD18494;EAW86451;Q5T2L2 Hs.282513 1752695 SHGC-106506 FLJ16347 pseudo 23469 16480 VALIDATED 1352888 AKR1C3 aldo-keto reductase family 1, member C3 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 p15-p14 5126568 5139878 + 5090958 5149878 + 1580863;6480464;6907045 9792917;11256614;19487289;19423521;19336506;19336370;19162045;18996480;18984855;18692800;18676680;18641923;18632753;18574251;18552976;18339682;18306354;17940109;17697149;17583494;17507624;17220347;17166832;17149600;17071532;16983398;16601286;16480815;16475787;16381901;16338060;16337083;16302261;16263811;16189514;16169070;15814298;15781210;15582534;15489336;15489334;15284179;15212687;15164054;15087468;14997212;14996743;14979715;14671194;13678667;12477932;11165022;11076863;10998348;10672042;10622721;10557352;10393440;9927279;9862446;9415401;8718859;8274401;7789999;7788527;7650035;7626489;19942269;19170196;19273550;19320734;19460435;19574343;19625176;19692168;19846565;20036328;20086173;20126582;20145130;20201926;20379614;20453000;20634197;20689807;20661409;20734064;21039282;21151387;21851338;21444150;21232532;17108031;21521174;23165153;23183084;23024260;21365123;18508192;19007764;19442656;8889549;21963094;21323680;16157291;21886157;22170488;22505408;23196782;22670171 8644 B4DKT3;B4DL37;Q9UKL9 AB018580;AB028065;AB032157;ABBA01035203;AF149416;AK290365;AK296701;AK296829;AK310940;AK315411;AL391427;AMYH01001995;AV761799;BC001479;BC019230;BG547635;BT007286;CH471072;D17793;DQ269985;H79159;L43839;NM_001253908;NM_001253909;NM_003739;S68288 AAB41916;AAD14011;AAF07272;AAH01479;AAH19230;AAP35950;ABB76132;ABM81605;ABM84786;ACT64584;ACT64585;BAA04619;BAA88488;BAA88489;BAA92892;BAF83054;BAG59295;BAG59399;CAL37801;EAW86452;EAW86453;EAW86454;NP_001240837;NP_001240838;NP_003730;P42330 Hs.78183 1678215;2154796;2157562;2183315;5097053 D10S1443;G62081;RH1568;RH25343;SHGC-31479 DD3;DDX;HA1753;HAKRB;HAKRe;HSD17B5;KIAA0119;PGFS;hluPGFS 3-alpha hydroxysteroid dehydrogenase, type II;3-alpha-HSD type II, brain;OTTHUMP00000018996;aldo-keto reductase family 1 member C3;aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II);chlordecone reductase homolog HAKRb;dihydrodiol dehydrogenase 3;dihydrodiol dehydrogenase X;indanol dehydrogenase;prostaglandin F synthase;testosterone 17-beta-dehydrogenase 5;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase;type IIb 3-alpha hydroxysteroid dehydrogenase APPROVED protein-coding 386 04911 603966 REVIEWED 4144516 AKR7A2P1 aldo-keto reductase family 7, member A2 pseudogene 1 1 1 1 p12 111694814 111696137 + 113267495 113268818 + 113465972 113467295 + 12879023;19706366 246182 Q8NHP2 ABBA01068436;AJ277796;AL158844;AMYH01000952;NG_015880;NR_002796 CAC81911 Hs.647691 AFARP1 pseudo 24062 VALIDATED 736637 AKR1D1 aldo-keto reductase family 1, member D1 The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010] 7 7 q32-q33 137411736 137453590 + 137761178 137803050 + 1580863;6480464;6907045;7240710 7508385;19075558;19013211;18848863;18407998;16123077;12690205;11342103;11329013;10343119;9024384;22437839;19212619;20800085;20522910;16712791;12477932;19175828;20379614;21255593;21185810;23092984 6718 C9J3U1;P51857 AACC02000025;ABBA01001154;ABBA01001155;AC024082;AC083867;AF283651;AF283652;AF283653;AF283654;AF283655;AF283656;AF283657;AF283658;AF283659;AK058142;AK289425;AK298421;AK298428;AMYH01017967;AMYH01017968;BC130625;BC130627;BG210362;CB111926;CH236950;CH471070;FM160741;FM160742;FM160743;NG_023342;NM_001190906;NM_001190907;NM_005989;Z28339 AAG39381;AAI30626;AAI30628;ADR83138;BAB71682;BAF82114;BAG60645;BAG60650;CAA82193;CAQ55951;CAQ55952;CAQ55953;EAL24049;EAW83881;EAW83882;NP_001177835;NP_001177836;NP_005980;P51857 Hs.201667;Hs.740214 2141696;5037552 D8S2279;SHGC-35425 3o5bred;CBAS2;SRD5B1 3-oxo-5-beta-steroid 4-dehydrogenase;OTTHUMP00000208643;OTTHUMP00000208644;OTTHUMP00000208645;aldo-keto reductase family 1 member D1;delta 4-3-ketosteroid-5-beta-reductase;delta(4)-3-ketosteroid 5-beta-reductase;delta(4)-3-oxosteroid 5-beta-reductase;steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1) APPROVED protein-coding ENSG00000122787 388 07263 235555;604741 REVIEWED 1353901 AKR1C2 aldo-keto reductase family 1, member C2 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 p15-p14 5021965 5050207 - 5029967 5060225 - 1580863;1626148;6480464;6907045 15494612 8573067;19487289;19258517;18984855;18654764;18396902;18251165;17432832;17203165;16478829;16411748;16216911;15492289;15489334;15383625;15212687;15188492;14702039;14671194;13678667;12810547;12477932;12416991;11854486;11514561;11513593;10672042;9716498;8920937;8486699;8274401;8011662;7959017;7789999;2187532;19320734;19754879;19846565;20056642;20689807;20840669;20734064;21280124;21217827;21232532;21521174;16344560;8889548;18508192;22064385;22275760;22534668 1646 B4DK69;P52895 AB021654;AB031084;AB032153;AB209017;ABBA01153848;AK091194;AK290304;AK296419;AK296686;AK308385;AL391427;AL713867;AMYH01001995;BC007024;BC063574;BT006653;CA450425;DA451165;DA458030;L32592;M33376;NG_031852;NM_001135241;NM_001354;NM_205845;S68330;U05598 AAA20937;AAB38486;AAD14013;AAH07024;AAH63574;AAP35299;ABM81606;ABM84788;BAA36169;BAA92884;BAA92891;BAD92254;BAF82993;BAG59081;BAG59281;NP_001128713;NP_001345;NP_995317;P52895 Hs.460260;Hs.567256;Hs.734597 1683649;1684538;1714855;1781868;2157929;5125451 RH11162;RH120422;RH92273;SHGC-100143;SHGC-12403;STS-U05861 AKR1C-pseudo;BABP;DD;DD2;DDH2;FLJ53800;HAKRD;HBAB;MCDR2;SRXY8 3-alpha-HSD3;DD-2;DD/BABP;OTTHUMP00000018995;aldo-keto reductase family 1 member C2;chlordecone reductase homolog HAKRD;dihydrodiol dehydrogenase 2;dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III;dihydrodiol dehydrogenase/bile acid-binding protein;pseudo-chlordecone reductase;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase;type II dihydrodiol dehydrogenase;type III 3-alpha-hydroxysteroid dehydrogenase 2315438 INSUL41_H APPROVED protein-coding ENSG00000151632 385 11857 600450;614279 REVIEWED 1320023 AKR1E2 aldo-keto reductase family 1, member E2 The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 10 10 10 p15.1 4811323 4833177 + 4858402 4880254 + 4868369 4890254 + 1580863;6480464 16344560;15118078;12604216;12477932;8889548;20662065;17207965;16385451;19706366 83592 E9PK93;E9PN98;G3V1C1;H0YCI2;H0YDE8;Q96JD6 AB040820;AB040821;AB040822;AB055603;ABBA01035203;AC091817;AF263242;AK074211;AK302155;AMYH01001994;BC002862;BC023972;BI756016;BM724648;BU741321;CH471072;DA006578;NM_001040177;NM_001271021;NM_001271025;NR_073125;NR_073126;NR_073127 AAH02862;AAK58523;ADQ32301;BAC54565;BAC54566;BAC54567;BAC54568;BAH13638;EAW86461;EAW86462;EAW86463;EAW86464;EAW86465;EAW86466;NP_001035267;NP_001257950;NP_001257954;Q96JD6 Hs.657944 2107825 AKR1CL2_8107 AKR1CL2;AKRDC1;LoopADR;MGC10612;hTSP;htAKR 1,5-anhydro-D-fructose reductase;AF reductase;OTTHUMP00000018989;OTTHUMP00000018990;OTTHUMP00000018991;OTTHUMP00000229818;OTTHUMP00000229819;OTTHUMP00000237878;aldo-keto reductase family 1 member C-like protein 2;aldo-keto reductase family 1, member C-like 2;aldo-keto reductase loopADR;aldo-keto reductase related protein;hTSP;testis-specific protein APPROVED protein-coding ENSG00000165568 23437 07472 REVIEWED 1605840 AKR7L aldo-keto reductase family 7-like This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a duplicated pseudogene, and it is therefore represented as such in this Gene record. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011] 1 1 1 p36.13 17919460 17927552 - 19465063 19473022 - 19592476 19600568 - 16710414;12879023;12604248;12477932;20171287;15146197;21906983 246181 Q8NHP1 ABBA01059756;AJ278012;AL035413;AMYH01000314;AMYH01000315;AMYH01000316;BC035351;BX281656;CH471134;CN359627;NR_040288;NR_040289 AAH35351;CAC79668;EAW94876;EAW94877;Q8NHP1 Hs.662342 2185425;5017433 SHGC-74333;STS-T76997 AFAR3;AFB1-AR3;AKR7A4 AFB1 aldehyde reductase 3;AFB1-AR 3;OTTHUMP00000211099;OTTHUMP00000211100;OTTHUMP00000211101;aflatoxin B1 aldehyde reductase 3;aflatoxin B1 aldehyde reductase member 4;aldoketoreductase 7-like APPROVED pseudo ENSG00000211454 24056 12240 608478 REVIEWED 6481089 AKT3-IT1 AKT3 intronic transcript 1 (non-protein coding) 100874263 AL592151 miscrna 41304 733693 AKR7A3 aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) Aldo-keto reductases, such as AKR7A3, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM, Apr 2004] 1 1 1 p36.13 17936048 17942271 - 19481644 19487867 - 19609057 19615280 - 1580863;6480464 10383892;16710414;16189514;15489334;12879023;12477932;20453000;16341674;21044950 22977 O95154 AA844782;ABBA01059756;AF040639;AJ271799;AL035413;AMYH01000316;BC025709;BC031562;BC042420;BG747063;BM855386;BM920315;CH471134;NM_012067 AAD02195;AAH25709;AAH31562;AAH42420;ABW03342;ABW03686;ACE86642;ACE87324;CAC81076;EAW94878;EAW94879;NP_036199;O95154 Hs.6980 AFAR2 AFB1 aldehyde reductase 2;AFB1-AR 2;OTTHUMP00000002623;aflatoxin B1 aldehyde reductase 2;aflatoxin B1 aldehyde reductase member 3;aflatoxin b1 aldehyde reductase APPROVED protein-coding 390 07089 608477 VALIDATED 1323832 AKT1S1 AKT1 substrate 1 (proline-rich) AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM, Mar 2008] 19 19 19 q13.33 47241806 47250153 - 55064108 55072456 - 50372296 50380644 - 737633;2308795;6480464;6484113 12477932;19339977 18372248;18215133;17604271;17510057;17386266;17277771;17081983;16344560;16174443;15489334;15324660;15302935;21886838;22090422;21981924;14973226;14702039;12524439;8125298;16169070;22863883;21900206;21914810;21910584;15161933;22241085;21906675;22354785;19446321;23444366;20169205 84335 H9KV91;M0R2V8;Q96B36 ABBA01032908;AC118341;AK055511;AK092610;AK123687;AK226004;AK316603;AMYH01009919;BC000031;BC007416;BC015562;BC016043;BC022241;BC051844;CH471177;DA005259;DA476468;DA542314;DA848626;NM_001098632;NM_001098633;NM_001278159;NM_001278160;NM_032375 AAH00031;AAH07416;AAH15562;AAH16043;AAH51844;BAB70937;BAG38190;BAG52583;EAW52568;EAW52569;EAW52570;EAW52571;NP_001092102;NP_001092103;NP_001265088;NP_001265089;NP_115751;Q96B36 Hs.515542;Hs.610819 2168315 RH36488 Lobe;MGC2865;PRAS40 40 kDa proline-rich AKT substrate;OTTHUMP00000196756;OTTHUMP00000196757;OTTHUMP00000196758;OTTHUMP00000196759;OTTHUMP00000196760;proline-rich AKT1 substrate 1;proline-rich Akt substrate, 40 kDa APPROVED protein-coding ENSG00000204673 28426 12441 610221 VALIDATED 732683 AKR7A2 aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. [provided by RefSeq, Oct 2011] 1 1 p36.13 19503046 19511227 - 19629202 19638640 - 1580863;6480464 9576847;19077459;18752886;17591773;16710414;16429158;15489334;12879023;12477932;12071861;9823300;8125298;16189514;15967462;20877624;21044367;8889549;21139048;21890473;21906983 8574 H3BLU7;H7C4Q7;H7C5H7;O43488 AA037839;ABBA01059756;AF026947;AK225267;AK303131;AK310609;AL035413;AMYH01000316;BC004111;BC007352;BC010852;BC011586;BC012171;BC013996;BG385885;BK000395;BM551906;BT007347;BU944847;CH471134;NM_003689;Y16675 AAC52104;AAH04111;AAH07352;AAH10852;AAH11586;AAH12171;AAH13996;AAP36011;ABM81929;ABM85108;BAG64236;CAA76347;DAA00088;EAW94881;NP_003680;O43488 Hs.571886 1660091;1739385;2118775;2185425 D1S2409;D1S316E;SHGC-74333;STS-AA037839 AFAR;AFAR1;AFB1-AR1;AKR7 AFB1 aldehyde reductase 1;AFB1-AR 1;OTTHUMP00000002622;OTTHUMP00000215517;OTTHUMP00000215519;SSA reductase;aflatoxin B1 aldehyde reductase member 2;aflatoxin beta1 aldehyde reductase;aldoketoreductase 7;succinic semialdehyde reductase APPROVED protein-coding 389 04567 603418 REVIEWED 735623 AKT3 v-akt murine thymoma viral oncogene homolog 3 The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 q44 241718158 242073176 - 243651535 244006886 - 1580863;2313763;2290458;6480464;6484113;6907045 18955974;17641274 12176997;10092583;18813315;18451171;17895832;17668379;17178867;16381901;15987444;15698844;15579468;15543611;15489336;15466193;14702039;14637150;12692267;12663464;12477932;12167664;12162751;11994280;11707444;11489829;21507933;11322783;11230166;11156964;11076863;10773662;10491192;10419456;10208883;9512493;9394803;9305920;16841089;16524887;10869418;17157319;15689238;11208609;15616007;11466625;11387345;19913121;20398329;20628086;19261608;19435822;19626040;19713527;20018949;20031603;20056178;20167810;20186503;20354165;20647317;20102399;18029348;21048031;8619474;9110174;20980808;21191416;21441570;16540465;18524868;21487925;20059950;21777670;21821713;19953087;21139048;22107784;21351097;22262409;22234583;21590431;22500628;22729223;22729224;22729570;15678105;21890473;18160256;18300076;18826950;20661303;20818790;21029719;21423810;21483469;21606541;21697490;21763505;21765914;22904195 10000 F8VS91;Q9Y243 ABBA01047209;ABBA01047210;ABBA01047211;ABBA01047212;ABBA01047213;ABBA01047214;ABBA01047215;AC096539;AF085234;AF124141;AF135794;AJ245709;AK055109;AK308052;AL117525;AL591721;AL592151;AL662889;AMYH01001884;AMYH01001885;AMYH01001886;AMYH01001887;AMYH01001888;AMYH01001889;AMYH01001890;AW960221;AY005799;BC019085;BC020479;BC121154;BG702262;CH471148;NG_029764;NM_001206729;NM_005465;NM_181690;U79271 AAD24196;AAD29089;AAF91073;AAH20479;AAI21155;AAL40392;CAB53537;CAB55977;CAL37669;CAL37727;EAW77093;EAW77094;NP_001193658;NP_005456;NP_859029;Q9Y243 Hs.498292 1339164;1655940;1659998;1692362;1718447;1724053;1735658;1751487;1757677;1765903;1781576;1795338;1848213;1851672;2110909;2119944;2125377;2144329;2145389;2145980;2154548;2163728;2174486;2176214 AKT3_697;AL009857;AL034042;D1S1902E;D1S1904E;D1S2811;D1S326E;G27428;RH119038;RH122424;RH12417;RH64659;RH70333;SHGC-105310;SHGC-146222;SHGC-148050;SHGC-149315;SHGC-30478;SHGC-60158;SHGC-76607;SHGC-76615;SHGC-76617;SHGC-76619;SHGC-76620 DKFZp434N0250;MPPH;PKB-GAMMA;PKBG;PRKBG;RAC-PK-gamma;RAC-gamma;STK-2 OTTHUMP00000037911;OTTHUMP00000037912;OTTHUMP00000241402;PKB gamma;RAC-gamma serine/threonine protein kinase;RAC-gamma serine/threonine-protein kinase;protein kinase Akt-3;protein kinase B gamma;serine threonine protein kinase, Akt-3;thymoma viral proto-oncogene 3 APPROVED protein-coding ENSG00000117020 393 06441 603387;611223 REVIEWED 732407 AKT2 v-akt murine thymoma viral oncogene homolog 2 This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains. The gene was shown to be amplified and overexpressed in 2 of 8 ovarian carcinoma cell lines and 2 of 15 primary ovarian tumors. Overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins. [provided by RefSeq, Jul 2008] 19 19 q13.1-q13.2 45428064 45483105 - 40736224 40791302 - 1580863;734545;1601155;734958;632179;2313347;2311130;2313406;2313763;2315599;2313297;2313299;2313320;2313405;2313409;2313410;2315600;2315603;2302395;2302397;2313350;2313316;2313408;2306432;2313394;2307342;2290458;2290476;5490965;6480464;6484113;6907045;7240710;7248544;7248543 11387480;17327441;12782654;12089343;16418318;19289493;17923673;18955974;19491266;19330838;19309364;18508911;18204829;12663464;12145152;17210696;16721043;17629673;18570632;12902546;19084003;15166380;11311245;11756242;18972094;17641274;16847462;19506583;19470471;21979934 21507933;9512493;9394803;9374542;8622988;3037531;1801921;16841089;16524887;10869418;17157319;15689238;11208609;15616007;16221682;15678105;9528769;17276404;17012749;16982699;16402276;16365168;15987444;15890450;15557754;15531580;15489334;15144186;15111130;15102693;15070827;15010337;14973226;14735903;14702039;14699494;14654898;14645242;14637151;14612499;14504284;14500673;12808085;12791994;12733712;12697749;12545160;12524439;12517798;12517337;12482965;12480711;12477932;12434148;12181350;12176337;12167664;12149249;12114503;12048203;11994280;11988487;11948187;11903042;11781143;11707444;11546794;11507039;11500317;11445557;11432835;11313479;11278835;11156964;11139588;10983986;10491192;9736715;10490823;1409633;16814735;15314020;19197940;19164214;19079138;19075230;19074768;19064572;18996102;18842333;18768676;18660489;18353613;18316591;18281467;18048359;17914025;17908691;17895832;17825284;17804734;17576055;17482291;17372934;17332325;22480544;20102399;12176997;17030088;17535800;17577629;19110052;19261608;19435822;19453261;19713527;19797172;19825827;19843246;19933843;20018949;20056178;20056908;20059950;20109457;20116920;20133737;20167810;20186503;20354455;20447721;20409325;20687898;19913121;20398329;20602615;20628086;20514445;20691427;21048031;21050850;20688159;21179235;19771908;21182834;22748472;21832049;23092922;22556379;15146197;21432781;8889548;21297943;22778840;22809628;16540465;20848774;21518566;21636708;21680733;21722267;22031698;21979951;21092549;22107784;17962807;23018889;21890473;21906983;21618512;21590431;22261254;21932427;23305873;23250987;21988832;22939624;23321478;17349711;18187620;18300076;18826950;19479051;19875456;20012528;20019835;20041213;20661303;20818790;20856200;21029719;21423810;21483469;21606541;21697490;21763505;21765914;22904195;22952844;22158034 208 A8MX96;B4DG79;C9J258;C9JC83;C9JHS6;C9JIF6;C9JIJ1;E7EVP8;F8W8B1;J3KRI8;J3KSY8;J3KT31;J3KTC6;J3KTP4;J3QKW1;J3QL45;J3QLS6;J3QQM6;M0QZK3;M0QZW8;M0R0P9;M0R275;M0R283;P31751;Q0VAN0 ABBA01040746;ABBA01040747;ABBA01040748;AC118344;AK054771;AK055779;AK122839;AK294453;AK304209;AK308006;AK308906;AK314619;AMYH01009799;AMYH01009800;AY708392;BC022779;BC032709;BC040028;BC063421;BC120994;BC120995;BM675176;BQ219902;CH471126;CN351354;M77198;M95936;NG_012038;NM_001243027;NM_001243028;NM_001626 AAA36585;AAA58364;AAH22779;AAH32709;AAH63421;AAI20995;AAI20996;AAT97984;BAG37185;BAG51573;BAG57690;BAH14135;EAW56941;EAW56942;EAW56943;NP_001229956;NP_001229957;NP_001617;P31751 Hs.631535 1767805;2125795;5015861;5037552;7185938 D10S16;D8S2279;RH11487;SGC30851 HIHGHH;PKBB;PKBBETA;PRKBB;RAC-BETA Murine thymoma viral (v-akt) homolog-2;OTTHUMP00000174417;PKB beta;RAC-PK-beta;RAC-beta serine/threonine-protein kinase;murine thymoma viral (v-akt) oncogene homolog 2;protein kinase Akt-2;protein kinase B beta;rac protein kinase beta APPROVED protein-coding ENSG00000105221 392 01262 125853;164731;240900 REVIEWED 1322487 AKTIP AKT interacting protein The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 16 16 16 q12.2 38040003 38051981 - 52082693 52094671 - 53525192 53537170 - 6480464 17353931;19270026;18799622;16189514;16169070;15489334;14749367;14702039;12477932;9501314;9383278;8626685;8125298;20635389;17207965;19549727;20132317;20945372;21424602;18029348 64400 H3BM79;H3BNB8;H3BRT7;H3BRV2;H3BSX7;H3BVH0;Q9H8T0 ABBA01066495;AC007342;AK023320;AK098222;AK222743;AK303503;AL133106;AMYH01007675;BC001134;BC095401;BG568989;BI545474;CH471092;CR457308;NM_001012398;NM_022476 AAH01134;AAH95401;ADQ32518;BAB14524;BAD96463;BAG64536;CAG33589;CAH56392;EAW82803;EAW82804;EAW82805;EAW82806;EAW82807;EAW82808;EAW82809;NP_001012398;NP_071921;Q9H8T0 Hs.380897 1677222;1684522;1796666;2167151;2173690;5015961;5020948;5022322;5037552;5109281 D11S2560;D15S1477;D16S2536E;D1S1425;D8S2279;G35510;RBL2_1295;RH65767;RH75186;RH94082 FT1;FTS AKT-interacting protein;OTTHUMP00000164256;fused toes homolog;fused toes homolog (mouse);fused toes protein homolog APPROVED protein-coding ENSG00000166971 16710 07467 608483 REVIEWED 736545 ALAD aminolevulinate dehydratase The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. [provided by RefSeq, Jul 2008] 9 9 q33.1 115188413 115203391 - 116148592 116163618 - 1599013;1599014;1599011;1601156;1580863;1578396;4144806;4144168;4144137;4144142;4144146;4144542;4144150;4144152;4144202;4144163;6480464;6907045;7240710 17204241;16597373;2222472;11335187;6721832;17320826;20026167;19647414;19484701;16839620;19043199;18778733;19022878;17720948 3463993;3758678;11032836;19548578;19515364;19440429;19327888;19028776;18936436;18795909;18784554;18676680;18569569;18432999;18282196;18271513;17966070;17823382;17649958;17383846;17366816;17291479;17164378;16757504;16730797;16497859;16487505;16445899;16377642;16344560;16263504;16203232;16140629;15954127;15915653;15587989;15489334;15386154;15381398;15258767;15213514;15164053;15064157;14694653;14527840;12972060;12896855;12878157;12665801;12611663;12477932;12469218;11909869;11860952;11800328;11591653;11459423;11444968;11427399;11413692;10706561;10519994;8188255;7450139;6839527;6378062;3327436;3092810;3036687;2063868;1716854;1678509;1602151;1569184;1156566;19170196;19625176;19686844;19692168;19723536;19766174;19789817;19812033;20021040;20021192;20069172;20123609;20406759;20510440;20798009;21293208;21396434;21439310;21799727;21327641;21139048;21762684;22101007;22863883;22298357;22797925;22851944 210 B7Z3I9;B7ZBK6;B7ZBK7;B7ZBK8;P13716;Q6ZMU0 AA593706;ABBA01042684;ABBA01042685;AK131490;AK290490;AK295945;AK312552;AL137066;AMYH01021669;AU279870;AY319481;BC000977;BU625796;BX494400;CH471090;DA412142;DA805310;M13928;NG_008716;NM_000031;S99468;S99471;X64467 AAA51687;AAC60581;AAC60582;AAH00977;AAP72012;BAD18635;BAF83179;BAG35449;BAH12225;CAA45796;EAW87379;EAW87380;NP_000022;P13716 Hs.1227 1649337;1682461;1741723;1788038;1788040;1788042;1788044;1788046;1788048;2180072;2191293 G67278;G67279;G67280;G67281;G67282;G67283;GDB:182364;MARC_17135-17136:1021046712:3;RH67978;RH71467;STS-X64467 ALADH;MGC5057;PBGS OTTHUMP00000021953;aminolevulinate, delta-, dehydratase;delta-aminolevulinic acid dehydratase;porphobilinogen synthase APPROVED protein-coding ENSG00000148218 395 00504 125270;612740 REVIEWED 736755 ALAS2 aminolevulinate, delta-, synthase 2 The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] X X p11.21 55052213 55074136 - 55035488 55057497 - 1599037;1599038;1580863;1300048;1578396;4144542;6480464;6907045;7240710 7949148;17082564;16839620 14643893;10727444;16234850;2050125;19187226;19066423;18760763;18569569;18555711;16446107;16121195;15772651;15342556;15166166;12663458;12477932;12393718;12031592;10577279;10029606;22269113;9858242;9642238;8107717;2347585;2263504;1939222;1577484;1570328;8889548;22740690;19731322;546546;20850938;21207956;21252495;21309041;21653323;21800356;18624398;23409301;23223129 212 H0Y6R3;P22557;Q5JZF5 AA778169;ABBA01069569;AF068624;AK290565;AK291589;AK313118;AL020991;AMYH01022432;AY190322;AY532069;AY532070;AY532071;AY532072;AY532073;AY532074;AY532075;AY532076;AY532077;AY532078;AY532079;AY532080;AY532081;AY532082;AY532083;AY532084;AY532085;AY532086;AY532087;AY532088;AY532089;AY532091;AY532092;AY532093;AY532094;AY532095;AY532096;AY532097;AY532098;AY532099;AY532100;AY532101;AY532102;AY532103;AY532104;AY532105;AY532106;AY532107;AY532108;AY532109;BC030230;BM677888;BP233279;BP284609;BQ182291;CH471154;NG_008983;NM_000032;NM_001037967;NM_001037968;X56352;X60364;Z83821 AAC39838;AAH30230;AAO37821;AAT09371;AAT09372;AAT09373;AAT09374;AAT09375;AAT09376;AAT09377;AAT09378;AAT09379;AAT09380;AAT09381;AAT09382;AAT09383;AAT09384;AAT09385;AAT09386;AAT09387;AAT09388;AAT09389;AAT09390;AAT09391;AAT09393;AAT09394;AAT09395;AAT09396;AAT09397;AAT09398;AAT09399;AAT09400;AAT09401;AAT09402;AAT09403;AAT09404;AAT09405;AAT09406;AAT09407;AAT09408;AAT09409;AAT09410;AAT09411;BAF83254;BAF84278;BAG35939;CAA39795;CAA42916;EAW93211;EAW93212;EAW93213;NP_000023;NP_001033056;NP_001033057;P22557 Hs.522666;Hs.555936 1646995;1646997;1686164;1774363;1778167;2121191;2147381;2182615;2220286;5093720 A009V31;AL023933;ALAS2;G32884;GDB:193183;RH16577;RH94266;SGC33540;WI-12678;WI-16860 ALAS-E;ALASE;ANH1;ASB;FLJ93603;XLDPP;XLEPP;XLSA 5-aminolevulinate synthase, erythroid-specific, mitochondrial;5-aminolevulinic acid synthase 2;OTTHUMP00000023388;OTTHUMP00000023389;OTTHUMP00000204081;aminolevulinic acid synthase 2;delta-ALA synthase 2;delta-ALA synthetase;delta-aminolevulinate synthase 2 APPROVED protein-coding ENSG00000158578 397 02356 300751;300752;301300 REVIEWED 68572 ALAS1 aminolevulinate, delta-, synthase 1 This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] 3 3 p21.1 52207156 52223383 + 52232099 52248343 + 1580863;1601233;1300048;1578396;4144542;4144178;4144185;4144834;4145274;4144808;6480464;6484113;6907045 16125296;16839620;12627002;16181105;16846079;7547054;6688350 2347585;18719978;17672918;17628775;16730941;15797241;15710391;15547665;15489334;15477213;15123725;12878157;12477932;12433930;11929048;11929042;11566198;8424176;7698013;3671094;2263504;2095458;11267664;19477221;20237496;16751776;19913121;20628086;15028279;20877624;21048031;23024262;21659532;18029348;21900206;21906983;21926972;16234850;22505724 211 H7C4H7;H7C5B0;P13196;Q5JAM2 AB063322;ABBA01024511;AC097637;AI868691;AK293190;AK300993;AK312566;AMYH01013182;AU279391;AY260745;BC011798;BM546974;BU173391;CD014147;CH471055;NM_000688;NM_199166;X56351;Y00451 AAH11798;AAP94018;ADZ15340;BAB93514;BAG35461;BAG56730;BAG62612;CAA39794;CAA68506;EAW65188;EAW65189;EAW65190;NP_000679;NP_954635;P13196 Hs.476308 1649007;1734834;1743149;2140833;2186240;5016844 D2S1587E;GDB:273584;RH69932;RH77906;RH93452;SHGC-31564 ALAS;ALAS3;ALASH;MIG4 5-aminolevulinate synthase, nonspecific, mitochondrial;5-aminolevulinic acid synthase 1;ALAS-H;OTTHUMP00000212619;OTTHUMP00000212620;OTTHUMP00000212621;OTTHUMP00000212622;delta-ALA synthase 1;delta-aminolevulinate synthase 1;migration-inducing protein 4 APPROVED protein-coding ENSG00000023330 396 00505 125290 VALIDATED 732909 AKT1 v-akt murine thymoma viral oncogene homolog 1 The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011] 14 14 q32.32 104306731 104333125 - 105235686 105262080 - 1580863;734544;734543;1358369;1643334;1643330;1643332;1643333;734957;625444;1643331;2311130;2313763;2313556;2315600;2306432;2291891;2290458;5133243;5509064;5509066;5509068;5509080;5509082;5509070;5509077;5509083;5509063;5509067;5509074;5509079;5509095;5509076;5509085;5509093;5509101;5509104;5509088;5509090;5509081;5509092;5509071;5509094;6480464;6484113;6907045;7240710 12237475;10802656;14745448;17611497;17892507;17646270;16341149;11544177;12084817;17681738;19289493;18955974;19052261;17210696;11311245;18190825;17641274;21277552;21741444;21596097;21049487;19124556;18236467;20921115;19440551;18054314;21793738;21351045;19800394;19240976;19622728;18395980;18023354;21430300;20363892;20217242;17825267;16234845;18273716;21590431;20214684;20467748 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207 B0LPE5;B3KVH4;B7Z5R1;G3V2I6;G3V3K5;G3V3X1;G3V4I6;P31749 A62733;A63232;AB451242;AB451367;ABBA01002983;ABBA01002984;ABBA01002985;AF283830;AK094287;AK122894;AK131465;AK299310;AK314256;AL583722;AL590327;AMYH01006063;AMYH01006064;BC000479;BC001737;BC063408;BC084538;BX647722;BX648205;CH471061;CN414251;EU332835;JX512440;M63167;NG_012188;NM_001014431;NM_001014432;NM_005163;X61037 AAA36539;AAH00479;AAH01737;AAH84538;AAL55732;ABY87524;ACE86973;ACE87663;AGC09587;BAG36922;BAG53786;BAG70056;BAG70181;BAH12997;CAA03677;CAA03712;CAA43372;EAW81881;EAW81882;EAW81883;NP_001014431;NP_001014432;NP_005154;P31749 Hs.525622 1668790;1696900;1774972;1792560;1795336;2144067;5022322 AKT1_41;D11S2560;PMC15397P1;RH101916;RH47592;RH69160;STS-AA041305 AKT;CWS6;MGC99656;PKB;PKB-ALPHA;PRKBA;RAC;RAC-ALPHA OTTHUMP00000244411;OTTHUMP00000244432;OTTHUMP00000244433;OTTHUMP00000244434;OTTHUMP00000244435;OTTHUMP00000244438;OTTHUMP00000244439;PKB alpha;RAC-PK-alpha;RAC-alpha serine/threonine-protein kinase;protein kinase B;protein kinase B alpha;proto-oncogene c-Akt;rac protein kinase alpha APPROVED protein-coding ENSG00000142208 391 01261 114480;114500;164730;167000;176920;181500;615109 REVIEWED 733283 ALCAM activated leukocyte cell adhesion molecule This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2011] 3 3 q13.1 106568403 106778434 + 105085557 105295757 + 1580863;734960;6480464 631856 12754519;9920831;21430457;7760007;19603023;19337990;19322904;19142865;18810438;18483249;18347173;18279810;18202807;18172759;18171982;18157132;17971418;17624664;16865058;16818773;16818742;16650408;16335952;16204050;16024937;15496415;15169840;15140234;14702039;12843199;12481253;12477932;11306570;10673383;9502422;9436462;8823162;8520490;7543097;20826154;20929568;21858815;22704111;20726988;16799092;19626493;20180536;20208136;20220571;16712791;20364042;20530423;20952758;19913121;20606680;20628086;21126364;21119604;16344560;21683980;21757661;21816001;21816425;21293922;21364949;21440089;22880034;21915031;21139048;21906983;21670959;22130902;20972617;21935604;22304788;22555284;22722789;23169448;21988832;23000965;23169771;23507476;22166264;22745698;22745734;23539446;22482754;23052204;23148625 214 B3KNN9;F5GXJ9;H7C543;Q13740;Q6PEY4;Q6ZS95 AB074167;ABBA01061728;ABBA01061729;ABBA01061730;ABBA01061731;ABBA01061732;AC023602;AC078806;AC133476;AK054632;AK095833;AK127617;AK300362;AK301804;AK316113;AL833702;AMYH01013369;AY644765;BC029639;BC041127;BC057809;BC137096;BC137097;CA430528;CB145726;CH471052;DA318514;DB541501;DQ486139;DQ486140;L38608;NG_029729;NM_001243280;NM_001243281;NM_001243283;NM_001627;Y10183 AAB59499;AAH57809;AAI37097;AAI37098;AAV28819;ABF48405;ABF48406;BAC87059;BAG51401;BAG62102;BAG63255;BAH14484;CAA71256;EAW79755;EAW79756;EAW79757;NP_001230209;NP_001230210;NP_001230212;NP_001618;Q13740 Hs.591293;Hs.740441 1674587;1705434;1721411;1752463;1754021;1795340;2114711;2117471;2126887;2159053;2159835 ALCAM_699;D3S4183;G59557;RH46353;SGC38382;SHGC-106342;SHGC-132061;SHGC-35488;SHGC-83798;STS-W51882;WIAF-1714 CD166;FLJ38514;MEMD;MGC71733 CD166 antigen;OTTHUMP00000214313;OTTHUMP00000214314;OTTHUMP00000214315;activated leucocyte cell adhesion molecule APPROVED protein-coding ENSG00000170017 400 03389 601662 REVIEWED 735404 ALB albumin Albumin is a soluble, monomeric protein which comprises about one-half of the blood serum protein. Albumin functions primarily as a carrier protein for steroids, fatty acids, and thyroid hormones and plays a role in stabilizing extracellular fluid volume. Albumin is a globular unglycosylated serum protein of molecular weight 65,000. Albumin is synthesized in the liver as preproalbumin which has an N-terminal peptide that is removed before the nascent protein is released from the rough endoplasmic reticulum. The product, proalbumin, is in turn cleaved in the Golgi vesicles to produce the secreted albumin. [provided by RefSeq, Jul 2008] 4 4 q13.3 74488870 74505996 + 74269972 74287129 + 1599027;1599028;734959;1599033;1580863;1601159;1601157;1601160;1601158;2306884;2306882;2306885;2306886;2325678;2325680;2325679;2325683;2325675;2325682;2325676;2325677;2325686;6480464;5135032;6483494;6484113;6483512;7240710 8048949;7937781;1690892;16753933;8664482;15102963;6468510;8677191;19414946;19424163;19397971;19246226;18154768;17545000;20431764;908508;20508721;10776430;20358256;19011933;20193666;21441310;22592748;22607558 21228463;20346571;20471030;21539799;16405401;14726550;16169013;16307046;16413734;16413740;10940303;16289007;16413837;9731778;16283771;16099937;16201370;16245148;16394536;16153637;12617161;6457647;7557095;8132774;11159893;14718574;19377253;19318029;19298387;19139584;19011736;18979581;18958405;18791744;18579803;18513410;18474236;18464274;18459107;18386863;18346470;18323672;18287254;18256067;18200583;18200582;18192916;18178096;18068661;18054940;18029235;18028874;17987802;17940721;17603933;17587712;17575979;17499233;17467280;17438360;17347578;17200780;17184834;17109502;17067818;17064838;17054386;17048876;17048273;17002873;16979183;16939204;16916777;16892178;16843720;16721655;16705651;16703327;16608438;16454580;16344560;16337614;16324740;16253963;16213467;16159939;16156788;16037246;15996651;15952740;15942949;15913893;15890566;15837789;15832324;15740590;15716124;15646839;15489334;15353599;15324660;15210122;15149953;15137089;14983239;14759223;14687905;14520007;13677478;12975309;12970360;12969171;12815038;12732844;12665801;12566415;12480711;12477932;12118010;12009306;11931649;11906609;11847277;11810025;11781148;11743713;11743520;11734007;11689002;11680902;11483580;11168369;11158855;11145723;11140838;10811843;10780709;10388840;9618718;9589637;9329347;9183005;8898021;8889549;8513793;8347685;8134387;8064810;8063017;8022807;7902134;7895732;7882997;7852505;7578225;7297678;6933567;6864486;6324579;6292049;6275391;6192711;6173750;6171778;4062880;4027254;3828358;3795040;3759977;3479777;3474609;3353369;3087352;3081519;3009475;2914956;2911589;2901102;2898383;2792379;2762316;2727704;2564675;2460858;2437111;2419329;2404284;2374930;2339130;2247440;2104980;2068071;1946412;1859851;1819460;1630489;1602151;1518850;1390939;1347703;1225573;955075;683332;656055;571335;325004;8312056;7576927;1810199;12007569;10580404;10086322;8605586;9168236;16169070;15502818;15616580;16054887;22630368;22832880;22675238;22905377;21456469;15174051;15604093;16329499;17058928;17460892;19212124;19339807;19375269;19450464;19484197;19505594;19520864;19572666;19588173;19601929;19615354;19615732;19664386;19707690;19711930;19733855;19734142;19785033;19883602;19884191;19955769;19996109;20006594;20018855;20025859;20171595;12601813;20603593;20306030;20211614;20381621;14579113;20215742;20716240;20818804;20705604;20160662;20692819;21193536;21488149;19404566;21190670;20828817;21326965;22209935;22286219;22450170;21832049;22513409;22815976;23285146;21190025;21271345;21439346;21635915;21843484;23592780;23176518;23455922;23215783;21494773;22120732;20018394;21521316;21900206;22079093;20835227;22351593;22642562;23104623;21139048;21890473;21950461;21997768;20473970;22306656;22549788;22878801;22613267;22968245;22982313;23103397;23398456;22437883;18337751;21565611;23360066;22718756;17301560;21357544;22268729;22685563;22797925;22440250;22870899;23531836;23538348 213 B7WNR0;C9JKR2;D6RCE7;D6RHD5;H0YA55;H7C013;Q9P157 A06977;ABBA01022989;ABBA01022990;AC108157;AF190168;AF542069;AK292755;AK298437;AK298461;AK308044;AK314794;AMYH01014300;AY358313;AY544124;AY550967;AY728024;AY960291;BC014308;BC034023;BC034026;BC035969;BC036003;BC039235;BC041789;BJ993972;CH471057;CR749331;CS339763;DA536463;DA642320;DQ986150;EF649953;GM662929;GN367252;HC484161;HQ537426;M12523;N53869;NG_009291;NM_000477;S69192;S70799;V00494;V00495;X51363;X51364;X51365 AAA98797;AAA98798;AAB30282;AAB31177;AAF01333;AAH14308;AAH34023;AAH35969;AAH36003;AAH41789;AAN17825;AAQ89947;AAT11155;AAT52213;AAU21642;AAX63425;ABJ16448;ABM82340;ABM85514;ABS29264;AEE60908;BAF85444;BAG37325;BAG60658;BAG60674;CAA00606;CAA23753;CAA23754;CAA35747;CAA35748;CAA35749;CAH18185;CAL14739;CAV33840;CAY85984;CBL66721;EAX05659;EAX05660;EAX05661;EAX05662;EAX05663;EAX05664;EAX05665;EAX05666;EAX05667;EAX05668;EAX05669;EAX05670;EAX05671;EAX05672;EAX05673;EAX05674;EAX05675;EAX05676;EAX05677;EAX05678;NP_000468;P02768 Hs.418167;Hs.592379 1655096;1675098;1741147;1741149;1741217;1743467;1743469;1743471;1743473;1743475;1743477;1743479;1743481;1743483;1743485;1743487;1743489;1743491;1743493;1791534;1791976;1794962;1795022;1795024;1849168;1856189;1857502 D4S2818;G34388;G34389;GDB:178382;GDB:178383;GDB:178648;GDB:340866;GDB:340869;GDB:340872;GDB:340875;GDB:340878;GDB:340881;GDB:340884;GDB:340887;GDB:340891;GDB:340894;GDB:340897;GDB:340900;GDB:340903;GDB:340906;PMC114008P1;PMC134004P1;PMC86453P1;PMC87818P1;PMC87818P2;RH11066;SHGC-59619 DKFZp779N1935;PRO0883;PRO0903;PRO1341 OTTHUMP00000160370;OTTHUMP00000196832;OTTHUMP00000220435;OTTHUMP00000220436;OTTHUMP00000220438;OTTHUMP00000220439;albumin (32 AA);albumin (AA 34);cell growth inhibiting protein 42;growth-inhibiting protein 20;serum albumin APPROVED protein-coding ENSG00000163631 399 00062 103600;194470 REVIEWED 1350465 ALDH16A1 aldehyde dehydrogenase 16 family, member A1 This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] 19 19 19 q13.33 46823977 46843666 + 54648325 54665658 + 49956473 49974305 + 1580863;6480464 17353931;16344560;14702039;12477932;9110174;8619474;19184135;19615732;16751776;21963094;23348497;22863883;21139048;21890473;21906983;21987572;22318606;22505724 126133 F5H4B6;F8WBH3;M0QY06;M0QYY1;Q8IZ83 ABBA01032926;ABBA01032927;ABBA01032928;AC010619;AK024182;AK074136;AK297101;AK298587;AK301246;AMYH01009912;AY007096;BC014895;BC035641;BC042142;CH471177;DA629821;DC364604;NG_012747;NM_001145396;NM_153329 AAH14895;AAH35641;AAH42142;BAB84962;BAG59613;BAG60777;BAG62813;EAW52482;EAW52483;EAW52484;NP_001138868;NP_699160;Q8IZ83 Hs.719998 5015961;5016700;5023137;5024035;5037552;5109281;5117897 27268et;D13S116;D15S1477;D1S1425;D8S2279;GDB:631813;RH79802 MGC10204 aldehyde dehydrogenase family 16 member A1 APPROVED protein-coding ENSG00000161618 28114 14394 613358 REVIEWED 1353558 ALDH1A3 aldehyde dehydrogenase 1 family, member A3 Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The enzyme encoded by this gene uses retinal as a substrate, either in a free or cellular retinol-binding protein form. [provided by RefSeq, Jul 2008] 15 15 q26.3 99237532 99274354 + 101420009 101456831 + 1580863;6480464;6771354;6771322;6484672;6907045 21138835;15950969;21621639 21280157;11585737;19478994;19343046;15489334;12477932;12040753;9490025;7698756;19703508;20709019;23650391;22131125;21906983;19322201;21963094;23312594 220 H0Y2X5;H0YKF9;H0YLT1;H0YNQ3;P47895 ABBA01020531;ABBA01020532;AC015712;AK302607;AK303441;AK312303;AL110109;AMYH01006972;AMYH01006973;BC009245;BC069274;BX538027;CH471101;DB480234;NG_012254;NM_000693;U07919 AAA79036;AAH69274;ACE86700;ACE87384;BAG35229;BAG63855;BAG64488;CAD97973;EAX02281;EAX02282;EAX02283;NP_000684;P47895 Hs.459538 1783242;1795342;1852432;2122708;2147607 ALDH1A3_289;D15S1345;RH48812;RH66397;SHGC-154796 ALDH1A6;ALDH6;MCOP8;RALDH3 OTTHUMP00000194835;RALDH-3;acetaldehyde dehydrogenase 6;aldehyde dehydrogenase 6;aldehyde dehydrogenase family 1 member A3;retinaldehyde dehydrogenase 3 APPROVED protein-coding ENSG00000184254 409 02713 600463;615113 REVIEWED 736747 ALDH1A1 aldehyde dehydrogenase 1 family, member A1 The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011] 9 9 q21.13 74705407 74757789 - 75515578 75568233 - 1580863;1300048;2325688;6480464;6484672;6771354;6907045 19216797;21621639;21138835 22649953;21371077;1709013;224930;2987944;19478994;19450560;19385968;19343046;19329942;19296407;19129088;19025616;19018242;18854779;18848913;18644979;18496131;18450747;18371393;18343808;18331377;18082256;18029348;17628022;17502835;17286337;17222227;17175089;16878979;16857736;16189514;15597079;15489334;14678778;14506398;12477932;12174908;12081471;9723161;9240474;9166904;8493914;8214422;6723659;6427007;4015823;3676276;3397064;3013004;2776714;2591967;730161;22877687;20516116;20422001;21441790;19447584;19696793;19703508;19706361;19774675;19808966;19874574;20010854;20019840;20142235;20379614;19911270;20596639;20606680;20634891;20585849;20228222;20959469;21045151;21098716;21118965;21282737;20889728;21231983;20959018;22710732;22617249;22591209;23084350;23132408;21336637;21399615;21827011;22101256;22887839;22928012;23295229;23454351;15852347;22005464;21695188;21804471;21708005;21907803;22123295;22260461;22115706;22544210;22012766;22131125;22014057;22080062;21482329;22195027;22608744;22878609;23252868;22098156;22430847;23332924;23112116;22417385;22899292;23236537;21988832;23220285;23438482;22938492;22782852;22930220;23267077 216 P00352;Q5SYQ7;Q5SYQ8;Q5SYQ9 AB209821;ABBA01033867;AF003341;AI074764;AK000118;AK026641;AK293176;AK302168;AL591031;AMYH01021409;AY338497;AY390731;BC001505;BG773210;BT006921;CH471089;DC398835;HC025826;K03000;M26761;M31994;NG_012249;NM_000689;S61235 AAA35518;AAA51692;AAA51695;AAC51652;AAD13925;AAH01505;AAP35567;AAP88039;AAR92229;ABM81595;ABM84776;BAD93058;BAG56719;BAG63535;CBH19844;EAW62543;EAW62544;NP_000680;P00352 Hs.76392 1695836;1797272;1858146;2142530 ALDH1A1__2601;HUM00D1B06;RH12740;SHGC-78774 ALDC;ALDH-E1;ALDH1;ALDH11;MGC2318;PUMB1;RALDH1 ALDH class 1;ALHDII;OTTHUMP00000021482;RALDH 1;acetaldehyde dehydrogenase 1;aldehyde dehydrogenase 1, soluble;aldehyde dehydrogenase family 1 member A1;aldehyde dehydrogenase family 1, member a1;aldehyde dehydrogenase, cytosolic;aldehyde dehydrogenase, liver cytosolic;retinal dehydrogenase 1;retinaldehyde dehydrogenase 1 APPROVED protein-coding ENSG00000165092 402 00001 100640 REVIEWED 6481157 ALDH1L1-AS1 ALDH1L1 antisense RNA 1 3 125822483 125826912 + 100874204 ABBA01016395;AC079848;AMYH01013447;NR_046602 Hs.742339 APPROVED miscrna ENSG00000250218 40244 PREDICTED 1350073 ALDH18A1 aldehyde dehydrogenase 18 family, member A1 This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008] 10 10 q24.3 97355676 97406557 - 97365686 97416567 - 1580863;6480464;6907045 8761662;18478038;18401542;15517380;15489334;15164054;12477932;11092761;10037775;8921385;8125298;21145461;21319273;16385451;18029348;19615732;20379614;20819778;20877624;20946940;20186120;17314511;17000644;22939629;21739576;20360068;21081666;19805454;23383273;18781797;21139048;21890473;21906983;21987572;22354994;22586326;15576338;22505724 5832 Q5T566 ABBA01021834;AK126355;AK225455;AK225465;AK226032;AK295487;AK299557;AK312271;AL356632;AMYH01002968;AW467503;BC106054;BC117240;BC117242;BC143930;BU170321;CD642171;CH471066;NG_012258;NM_001017423;NM_002860;U68758;U76542;X94453 AAD00169;AAD17454;AAI06055;AAI17241;AAI17243;AAI43931;ADR83253;BAG35201;BAH12086;BAH13064;CAA64224;EAW49994;EAW49995;EAW49996;EAW49997;NP_001017423;NP_002851;P54886 Hs.500645 1856285;2109715;5022578;5037552;5494092 D10S2402;D1S1423;D8S2279;PYCS__6971;fc35a07.x1 ARCL3A;GSAS;MGC117316;P5CS;PYCS OTTHUMP00000020159;OTTHUMP00000020160;aldehyde dehydrogenase family 18 member A1;delta-1-pyrroline-5-carboxylate synthase;delta-1-pyrroline-5-carboxylate synthetase;delta1-pyrroline-5-carboxlate synthetase;pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase) APPROVED protein-coding ENSG00000059573 9722 00696 138250;219150 REVIEWED 734163 ALDH1A2 aldehyde dehydrogenase 1 family, member A2 This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011] 15 15 q21.3 56032919 56145198 - 58245622 58358121 - 734550;1580863;734961;734962;1576367;1300048;6480464;6771322;6484672;6771354;6907045 12563036;7426208;12702665;12547725;15950969;21621639;21138835 16166285;16237707;18495959;19478994;19343046;16368932;15489334;14718574;14702039;12477932;11953746;10192400;9819382;8797830;8663198;18029348;19609347;19703508;19886994;20308937;20375987;20379614;20450613;17266347;22930583;21139048;21890473;22505724 8854 E9PF31;H0YKL3;H0YMG7;H0YMT5;Q9UED3;Q9UFY0 AA447978;AB015226;AB015227;AB015228;AB015229;ABBA01038986;ABBA01038987;AC012653;AC025431;AK128709;AK294981;AK303057;AL110274;AL110299;AL137418;AMYH01006678;BC030589;BI459110;BX443600;CH471082;DB458699;DQ322171;NG_012259;NM_001206897;NM_003888;NM_170696;NM_170697 AAH30589;ABC40749;ABM82494;ABM85686;BAA34785;BAA34786;BAA34787;BAA34788;BAG54714;BAG58050;BAG64174;CAB53740;EAW77528;EAW77529;EAW77530;NP_001193826;NP_003879;NP_733797;NP_733798;O94788 Hs.643455 1707188;1718725;1769763;1852810;2217002 ALDH1A2_1803;G17842;RH123050;SHGC-79179;STS-AA036780 MGC26444;RALDH(II);RALDH2;RALDH2-T OTTHUMP00000163462;OTTHUMP00000163463;RALDH 2;aldehyde dehydrogenase family 1 member A2;aldehyde dehydrogenase family 1, subfamily a2;retinal dehydrogenase 2;retinaldehyde-specific dehydrogenase type 2 APPROVED protein-coding ENSG00000128918 15472 04733 603687 REVIEWED 5688412 ALDH1L1-AS2 ALDH1L1 antisense RNA 2 3 q21.3 125898908 125929012 + 14702039;16344560;23378610 100862662 ABBA01016394;ABBA01016395;AC079848;AK097508;AMYH01013447;BC039521;DA256650;DA566603;NR_046383 Hs.633362 FLJ40189 APPROVED miscrna ENSG00000246022 42446 VALIDATED 1606025 ALDH1L1 aldehyde dehydrogenase 1 family, member L1 The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 3 3 q21.3 127305098 127382175 - 125822404 125900029 - 6480464;6907045;7242562 22353665 17111379;18848533;19018242;19447584;19935739;21215736;21238436;22491060;21779486;22593801;21987076;22039442;10204077;19343046;19161160;19064578;19048631;18830263;18676680;17891500;17548676;17119116;12805405;12477932;12065246;8125298;7972060;2733692;19913121;20628086;20634891;19170196;19625176;19692168;19851296;19936946;20198315;20453000;20737570;20877624;20729910;21046559;21540484;23378610 10840 B4DGC8;C9IZ36;C9JY00;C9JYZ6;D6RFJ7;F2Z324;F8WC34;O75891;Q53H87;Q8TBP8 AA639766;AB209299;ABBA01016395;AC079848;AF052732;AK124908;AK222535;AK222694;AK294392;AK294530;AK307699;AK308112;AL133015;AMYH01013447;BC027241;BC045645;BI829048;CH471052;CR749807;DC342268;NG_012260;NM_001270364;NM_001270365;NM_012190;NR_072979 AAC35000;AAH27241;ACE86814;ACE86815;ACE87501;ACE87502;ADZ15394;BAC85992;BAD92536;BAD96255;BAD96414;BAG57647;BAG57739;CAB61356;CAH18667;EAW79370;EAW79371;EAW79372;NP_001257293;NP_001257294;NP_036322;O75891 Hs.434435 1696462;1708490;2156088;5015619;5015961;5037552 D11S3114;D15S1477;D8S2279;G06984;SHGC-79487;SHGC-79784 10-FTHFDH;10-fTHF;DKFZp781N0997;FDH;FTHFD 10-FTHFDH;10-formyltetrahydrofolate dehydrogenase;OTTHUMP00000155221;OTTHUMP00000214696;OTTHUMP00000214700;OTTHUMP00000222724;aldehyde dehydrogenase family 1 member L1;cytosolic 10-formyltetrahydrofolate dehydrogenase;formyltetrahydrofolate dehydrogenase APPROVED protein-coding ENSG00000144908 3978 02594 600249 REVIEWED 1315525 ALDH1B1 aldehyde dehydrogenase 1 family, member B1 This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008] 9 9 p11.1 38382702 38388658 + 38392661 38398662 + 1580863;6480464;6907045 1306115;19343046;18782342;17628022;17471563;15489334;15164053;12477932;8689400;8244338;8125298;7779080;7774944;2061311;21216231;21145461;20205700;18029348;20700531;20734064;20877624;20955166;16344560;22863883;22939629;22990118;19738201;21988832;23247008;23454351;16196087;17314511;21139048;21890473;22268729 219 B4DLJ0;P30837 ABBA01050381;AI803741;AK225950;AK297020;AK313344;AL135785;AMYH01019366;BC001619;BE889810;BT007418;CH471071;DA599259;DB256700;M63967;NG_012253;NM_000692 AAA96830;AAH01619;AAP36086;ABM81675;ABW03290;BAG36147;BAG59552;EAW58252;NP_000683;P30837 Hs.436219;Hs.743532 1743169;1743173;1743175;1795344;1850838;2140030;2171303;5118576 ALDH1B1_1553;D11S3430;GDB:280628;GDB:280630;GDB:280632;SGC35531;STS-M63967;STS-R93551 ALDH5;ALDHX;MGC2230 ALDH class 2;OTTHUMP00000021399;acetaldehyde dehydrogenase 5;aldehyde dehydrogenase 5;aldehyde dehydrogenase X, mitochondrial;aldehyde dehydrogenase family 1 member B1;mitochondrial aldehyde dehydrogenase X APPROVED protein-coding ENSG00000137124 407 00005 100670 REVIEWED 69220 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2011] 12 12 q24.2 110688729 110732167 + 112204691 112247789 + 734551;1599041;1599042;1331525;1300048;1601161;1601162;1601164;1601163;1580863;2311152;2325694;2325313;2311149;2311150;2311151;6480464;6907045;7240710;7241588;7241590;7241599;7241603;7241598;7241592 10780266;17058263;15126281;15118671;17388993;16408483;11510748;12484509;12452318;15714130;19068087;15563966;15318096;12706323;21166048;20957334;21138988;22022451;23468836;18787169 19286920;17459359;9309300;22231434;1306115;8903321;19637400;19618839;19584771;19469618;19456322;19449376;19403456;19393179;19343046;19339270;19336370;19332462;19302089;19298328;19298323;19262484;19250143;19230487;19185835;19182438;19164089;19124505;19115622;19096130;18996923;18974607;18798003;18787502;18786921;18782342;18776700;18773092;18772068;18763293;18724972;18715275;18676680;18665932;18621017;18616675;18540919;18516948;18510611;18450747;18439068;18429959;18336671;18331377;18322963;18318597;18317873;18302046;18299763;18272654;18258609;18254707;18216179;18215653;18201725;18078815;18056758;18033686;17984618;17963305;17952709;17948892;17885622;17854793;17850643;17785925;17659824;17632320;17631643;17559142;17543846;17517051;17489985;17471563;15654505;15569633;15542751;15519646;15511718;15489334;15377279;15327835;15318112;15318097;15279067;15242332;15220553;15182962;15167446;15123334;15122947;15084894;15008789;14768474;14742656;14693654;14691372;14652286;14636437;14634838;14597338;14568296;14506613;14506399;12940444;12915519;12915514;12884000;12824748;12806963;12798968;12777946;12766630;12759747;12759156;12739102;12718671;12718576;12706324;12705718;12563175;12554615;12545748;12519453;12517056;12505800;12492137;12477932;12419833;12387818;12376487;12351924;12223435;12213289;12211622;12198369;12198368;12189549;12173598;12170102;12168074;12164325;12119207;12089173;12082496;12080432;12033531;12010862;11966948;11925062;11798074;11767261;11748356;11744614;11696658;11692094;11600186;11584144;11520401;11468345;11410744;11410735;11375898;11238183;11210104;11117576;11115843;11051375;10631996;9765594;17384900;17292341;17285601;17207821;17196743;17138329;17134659;17071628;17040107;17036331;17033202;16958672;16847426;16822169;16792555;16788276;16782756;16759795;16758956;16734278;16702384;16685648;16679777;16679343;16639733;16624836;16608143;16600530;16565959;16520888;16499490;16440362;16440063;16404797;16385179;16365683;16351505;16332725;16324524;16309369;16250071;16235983;16187278;16163053;16135443;16127737;16126235;16125912;16108833;16103445;16082583;16078602;16046871;16006997;15991278;15983043;15957670;15957669;15902904;15863807;15842823;15840430;15780035;15734972;15703303;15679538;17454860;8561277;8290656;8125298;7593603;6582480;4065146;4015823;3653404;3610592;3582651;3562250;3017845;2987944;2838413;2562960;16169070;22708399;21133627;19486361;12795606;19064571;19144977;19170196;19251454;19261511;19452585;19506075;19625176;19641380;19655364;19667493;19692168;19698717;19706845;19751749;19769429;19799139;19819294;19826048;19860798;19861527;19874574;19876063;19906643;19911129;19914339;19948975;20005475;20010786;20025435;20042735;20062057;20077761;20093384;20100738;20101753;20180013;20180859;20205700;20364586;20381070;20403997;20417517;20437850;20467232;20477767;20477771;20488846;20518787;20521872;9195888;20562859;20833657;20139978;19913121;20541757;20577142;20590827;20598484;20628086;20632450;20652463;20685249;20806441;20700531;20877124;20877624;21039630;21070510;21832049;22564712;22931071;22988236;21476199;21515512;8889548;21372407;21437268;21252222;21085683;21270382;21157980;22839215;23106910;22960999;21572416;21114754;21536753;21576033;21672255;21321583;20186120;21601984;21861333;22551939;23247008;23295226;23454351;22508505;21145461;22180476;20731752;21958412;21664374;21507992;22102315;22302076;22930414;23111423;22797727;21723677;21848961;21139048;21820149;21906983;22155639;21309949;21355870;21917409;21946912;21971053;22144473;22155604;22171074;22286173;22455355;22287615;22292652;22004425;21988832;23364009;22507973;22870576;22879089;23149980;23238616;22591209;22279680;23041239;23354068;23364394;22703580;22909898 217 F8VSB0;F8W0A9;P05091 ABBA01019906;ABBA01019907;ABBA01019908;ABBA01019909;ABBA01019910;ABBA01019911;AC002996;AC003029;AF164120;AK223373;AK301375;AK314856;AMYH01004752;AY621070;BC002967;BC071839;CB851683;CH471054;CR456991;DC353712;HC250939;HC311128;K03001;M20444;M20456;M26760;M54931;NG_012250;NM_000690;NM_001204889;X05409;Y00109 AAA51693;AAA51694;AAA62825;AAB59500;AAD48447;AAH02967;AAH71839;AAT41621;ADZ15477;BAD97093;BAG62916;CAA28990;CAA68290;CAG33272;CBJ05767;CBJ21219;EAW97973;EAW97974;EAW97975;EAW97976;NP_000681;NP_001191818;P05091 Hs.604551 1691500;1694934;1710046;1741241;1745755;2147702;2217004 119668;ALDH2_2950;D12S1884;G44358;GDB:179565;GDB:636036;SHGC-82299 ALDH-E2;ALDHI;ALDM;MGC1806 ALDH class 2;OTTHUMP00000241661;OTTHUMP00000241662;OTTHUMP00000241663;OTTHUMP00000241665;acetaldehyde dehydrogenase 2;aldehyde dehydrogenase 2;aldehyde dehydrogenase, mitochondrial;liver mitochondrial ALDH;nucleus-encoded mitochondrial aldehyde dehydrogenase 2 APPROVED protein-coding ENSG00000111275 404 00003 100650;610251 REVIEWED 1318187 ALDH3B2 aldehyde dehydrogenase 3 family, member B2 This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. The expression of these transcripts is restricted to the salivary gland among the human tissues examined. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 11 11 11 q13 64764391 64781968 - 67186209 67205261 - 67429633 67448685 - 1580863;6480464;6907045 8890755;19343046;15489334;15342556;14702039;12477932;10737800;9161417;7484374;20237496;21906983 222 E9PJV0;E9PKY9;H0YEC0;P48448 ABBA01024026;AK092464;AK299956;AK309277;AMYH01003748;AP003385;BC007685;BG009508;BP313753;BT006810;CH471076;NG_012255;NM_000695;NM_001031615 AAH07685;AAP35456;ABM84628;ABM92158;BAC03897;BAG61783;EAW74665;NP_000686;NP_001026786;P48448 Hs.87539 1694512;1795346;2125148;2148910 ALDH3B2_420;RH121969;RH18048;RH47695 ALDH8 OTTHUMP00000235616;acetaldehyde dehydrogenase 8;aldehyde dehydrogenase 8;aldehyde dehydrogenase family 3 member B2 APPROVED protein-coding ENSG00000132746 411 03559 601917 REVIEWED 733180 ALDH3A1 aldehyde dehydrogenase 3 family, member A1 Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008] 17 17 p11.2 19581889 19592200 - 19641297 19651746 - 1300048;1580863;2300309;6480464;6907045 3949078 1737758;11256614;19360691;19343046;19058789;19025616;18854779;18621017;18536178;18496131;16344560;15905174;15489334;14745454;14702039;12943535;12706498;12477932;12367788;12081471;10780262;9855707;9514081;9250352;9027499;8889548;8493892;8125298;7774944;7625577;7228061;4073832;2037078;1905102;1306115;19894643;20056567;20237496;20379614;19696793;20102361;21229876;21203538;21251908;22406320;21044950 218 A8MYB8;C9JKT2;C9JMC5;E9PNN6;I3L1H6;I3L3I9;I3L3W9;I3L4E5;P30838;Q6PKA6 ABBA01054596;AC005722;AK091272;AK093755;AK093877;AK225505;AK225513;AK292193;AK314584;AMYH01008238;AMYH01008239;BC004102;BC004370;BC008892;BC021194;BM979497;BT007102;CH471212;CV575863;DA427150;DA445491;M74542;M77477;NG_012251;NM_000691;NM_001135167;NM_001135168;S61044 AAA51696;AAB26658;AAB46377;AAH04102;AAH04370;AAH08892;AAH21194;AAP35766;ABM83914;BAC04239;BAF84882;BAG37160;BAG52758;EAW50908;EAW50909;NP_000682;NP_001128639;NP_001128640;P30838 Hs.531682 2152655;2158146;5037552;5109281 D1S1425;D8S2279;RH11444;WI-9090 ALDH3;ALDHIII;MGC10406 OTTHUMP00000065794;OTTHUMP00000065795;OTTHUMP00000065796;OTTHUMP00000065797;aldehyde dehydrogenase isozyme 3;aldehyde dehydrogenase type III;aldehyde dehydrogenase, dimeric NADP-preferring;stomach aldehyde dehydrogenase APPROVED protein-coding ENSG00000108602 405 00004 100660 REVIEWED 1345617 ALDH1L2 aldehyde dehydrogenase 1 family, member L2 This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010] 12 12 12 q23.3 105078239 105142624 - 103942332 104002366 - 105413562 105478341 - 1580863;6480464;6907045 20498374;14702039;12477932;21238436;20877624;19933275;20379614;21789175;20186120;18029348;23382691 160428 B4DTU7;H0YHN9;Q3SY69 ABBA01053187;ABBA01053188;ABBA01053189;AC016257;AC090051;AF086109;AK094088;AK095827;AK300373;AMYH01004718;AMYH01004719;BC103934;BC103935;BX537599;CA418450;CR627287;CR749561;HQ292168;NG_012748;NM_001034173;NR_027752 AAI03935;AAI03936;ACE87788;ACT64437;BAC04634;BAG62109;CAH10368;CAH18358;NP_001029345;Q3SY69 Hs.42572 1338335;1682135;1690992;1721227;1746935;2156455;2163433;2187797;5020948;5094334 D1S1151;G35510;G54718;G59457;G64838;G69481;RH68920;RH77954;RH79585;RH92214 DKFZp686A16126;DKFZp686M064;DKFZp686P14145;FLJ36769;FLJ38508;MGC119536;MGC119537;mtFDH 10-formyltetrahydrofolate dehydrogenase ALDH1L2;OTTHUMP00000242225;aldehyde dehydrogenase family 1 member L2;aldehyde dehydrogenase family 1 member L2, mitochondrial;mitochondrial 10-FTHFDH;mitochondrial 10-formyltetrahydrofolate dehydrogenase;probable 10-formyltetrahydrofolate dehydrogenase ALDH1L2 APPROVED protein-coding ENSG00000136010 26777 18742 613584 REVIEWED 737085 ALDH3A2 aldehyde dehydrogenase 3 family, member A2 Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 p11.2 19492656 19521500 + 19552064 19580908 + 1300048;1580863;6480464;6907045;7240710 8528251;19343046;18519826;18035827;17998529;17971613;17902024;17510064;16996289;16794583;15931689;15489334;15241804;15110319;14702039;12477932;11408337;10792573;10577908;9829906;9467812;9254849;9204959;9070922;9027499;7894487;7485163;21145461;19615732;20237496;20883264;20677014;20877624;17342744;21524986;9133646;18781797;20360068;21139048;21684788;21890473;21906983;22678362;21963094;22633490;20305087;22397046;21872273;22797925 224 C9JGJ2;I3L0X1;I3L1M4;I3L2W1;I3L4G6;J3KTD9;J3KTG1;J3QKK9;J3QQV9;J3QRD1;J3QS00;K7EN73;P51648 AB208894;ABBA01054599;AC005722;AC115989;AK000858;AK025677;AK123877;AK292381;AK315096;AMYH01008238;BC002430;BG699030;CH471212;CR457422;CR749559;L47162;NG_007095;NM_000382;NM_001031806;U46689;U75286;U75295;U75296 AAB01003;AAC50965;AAC50966;AAC51121;AAH02430;ABM86806;ABW03828;BAD92131;BAF85070;BAG37560;CAG33703;CAH18356;EAW50898;EAW50899;EAW50900;NP_000373;NP_001026976;P51648 Hs.499886 1644778;1660408;1662966;1689833;1772869 AFMa126yd5;RH64993;RH66582;RH75646;SGC31627 ALDH10;DKFZp686E23276;FALDH;FLJ20851;SLS OTTHUMP00000065799;OTTHUMP00000065800;OTTHUMP00000065801;aldehyde dehydrogenase 10;aldehyde dehydrogenase family 3 member A2;aldehyde dehydrogenase family 3, subfamily a2;fatty aldehyde dehydrogenase;microsomal aldehyde dehydrogenase APPROVED protein-coding ENSG00000072210 403 07188 270200;609523 REVIEWED 1352783 ALDH7A1P1 aldehyde dehydrogenase 7 family, member A1 pseudogene 1 5 5 5 q14 72480239 72482049 + 76621684 76623499 + 76586009 76587819 + 16004729;9417906 541 ABBA01061980;AC022414;AF002693;AMYH01015427;NG_001082;NG_023364 2140109;2144152;2155264 D5S2464;D5S2596;RH47147 ATQL1 antiquitin-like 1 pseudo 878 INFERRED 1349903 ALDH3B1 aldehyde dehydrogenase 3 family, member B1 The aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular gene spans about 20 kb of genomic DNA and is composed of 9 coding exons. The gene is highly expressed in kidney and lung. The functional significance of this gene as well as the cellular localization of its product are presently unknown. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] 11 11 11 q13 65109718 65130415 + 67534366 67553319 + 67776048 67796743 + 1580863;6480464;6907045 7828891;19343046;19159868;17382292;16092759;15489334;14702039;12477932;9490025;9161417;20237496;20729348;20699116;21139048;21890473;21906983;21987572;21963094;23000965;23438482 221 P43353;Q9BUJ8 AB209651;ABBA01024019;ABBA01024020;AC004923;AK092029;AK291505;AMYH01003754;BC002553;BC013584;BC014168;BC019911;BC033099;BM561843;BT009832;CH471076;EF411198;NG_012282;NM_000694;NM_001030010;NM_001161473;U10868;X75688 AAA83428;AAH02553;AAH13584;AAH14168;AAH33099;AAP88834;ABM82378;ABM85557;ABN58743;BAD92888;BAF84194;EAW74678;EAW74679;EAW74680;EAW74681;EAW74682;EAW74683;NP_000685;NP_001025181;NP_001154945;P43353 Hs.523841 1851260;2143246;2145217;5015619;5037552 D11S2423;D11S3114;D8S2279;RH69713;STS-AA026629 ALDH4;ALDH7;FLJ26433;FLJ34710 aldehyde dehydrogenase 3B1;aldehyde dehydrogenase 7;aldehyde dehydrogenase family 3 member B1 APPROVED protein-coding ENSG00000006534 410 02716 600466 REVIEWED 1345188 ALDH7A1P2 aldehyde dehydrogenase 7 family, member A1 pseudogene 2 2 q31.1 173758491 173759111 - 9417906;9417906 542 ABBA01020743;AC009484;AMYH01011270;NG_023632 ATQL2 aldehyde dehydrogenase 7 family, member A1 pseudogene 2 APPROVED pseudo 879 VALIDATED 735245 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 6 6 p22 24603176 24645414 + 24495197 24537435 + 632258;1580863;6480464;6907045;7240710 7814412 16199352;9683595;15037717;19343046;19300440;19086053;18505418;17913586;17457693;16786440;16406321;15642443;15489334;14981524;14635103;14574404;12629812;12477932;12208142;11901270;11243727;9059628;6470007;20659789;19667317;20201926;20379614;20877624;20363598;20301374;22939629;21438145;18029348;20445195;18457437;22437753;22001757 7915 C9J8Q5;F5H328;P51649;Q546H9 ABBA01066536;AJ427353;AJ427354;AJ427355;AK025722;AK290800;AK294699;AK314357;AK315380;AL031230;AMYH01016151;BC034321;CH471087;L34820;NG_008161;NM_001080;NM_170740;X92753;Y11192 AAA67057;AAH34321;ABM82597;ABM85783;BAF83489;BAG37773;BAG57857;CAA72076;CAD20882;CAD20883;CAD20884;EAW55452;EAW55453;EAW55454;NP_001071;NP_733936;P51649 Hs.371723 1651887;1653988;1666351;1792858;1795350;5014051;5022651;5037552 ALDH5A1_295;D11S2921;D8S2278;D8S2279;PMC166143P14;RH48155;STS-D25573;WI-11539 SSADH;SSDH NAD(+)-dependent succinic semialdehyde dehydrogenase;OTTHUMP00000016088;OTTHUMP00000214393;OTTHUMP00000214394;aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase);aldehyde dehydrogenase family 5 member A1;aldehyde dehydrogenase family 5, subfamily a1;mitochondrial succinate semialdehyde dehydrogenase;succinate-semialdehyde dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000112294 408 08361 271980;610045 REVIEWED 1346272 ALDH4A1 aldehyde dehydrogenase 4 family, member A1 This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009] 1 1 p36 19070513 19101659 - 19197924 19229293 - 1580863;6480464;6907045;7240710 8621661;16710414;16341674;15489334;14986171;12477932;9700195;8125298;4851275;1286669;500817;14679154;19898482;20453000;20877624;23568457;21832049;21988832;21890473;22516612 8659 D2D4A3;Q5TF55;Q9UDI6 ABBA01059748;ABBA01059749;AK222486;AK289972;AK294552;AL080251;AL954340;AMYH01000310;BC007581;BC023600;BM856369;BX537160;BX649081;CH471134;DC318624;FJ462711;NG_012283;NM_001161504;NM_003748;NM_170726;U24266;U24267 AAC50500;AAC50501;AAH07581;AAH23600;ABM84431;ABM87488;ACN89883;BAD96206;BAF82661;BAG57755;EAW94858;EAW94859;EAW94860;NP_001154976;NP_003739;NP_733844;P30038 Hs.77448 1688815;1766509;1795348;1847477;2161990;2174390 ALDH4A1_1756;D1S3604;RH80741;SHGC-149828;SHGC-74303;SHGC-74312 ALDH4;DKFZp779M035;P5CD;P5CDh OTTHUMP00000002544;OTTHUMP00000002545;P5C dehydrogenase;aldehyde dehydrogenase family 4 member A1;delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial;mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase APPROVED protein-coding ENSG00000159423 406 06009 239510;606811 REVIEWED 1353754 ALDH7A1P3 aldehyde dehydrogenase 7 family, member A1 pseudogene 3 7 7 7 q36 144795796 144796319 - 149869653 149870176 - 150238720 150239243 - 9417906 543 AACC02000108;ABBA01035185;AC069304;AF002694;AMYH01018140;NG_001083 ATQL3 APPROVED pseudo 880 INFERRED 1350929 ALDH7A1P4 aldehyde dehydrogenase 7 family, member A1 pseudogene 4 10 10 10 q21 57768131 57768580 - 64170848 64171297 - 64500750 64501154 - 9417906;22747683 544 ABBA01019491;AC067751;AF002695;AMYH01002774;NG_001084 ATQL4 APPROVED pseudo 881 INFERRED 1345484 ALDOAP2 aldolase A, fructose-bisphosphate pseudogene 2 10 10 10 q26.13 121130663 121132039 - 127344579 127346853 - 127355249 127356625 - 3674018;2828224 228 ABBA01034168;AL158835;AMYH01003162;M21191;NG_005637 Hs.652473 1735996;5017689 ALDOA;D10S1286E pseudo 416 INFERRED 1343752 ALDOAP1 aldolase A, fructose-bisphosphate pseudogene 1 3 3 3 p21.2 52206379 52208324 + 52202001 52204170 + 52227061 52229007 + 3674018 391538 ABBA01024511;AC006252;AC097637;AMYH01013182;NG_004867 1684618;1744329;5017689 ALDOA;GDB:451697;RH47250 pseudo 415 INFERRED 1319646 ALDH8A1 aldehyde dehydrogenase 8 family, member A1 This protein belongs to the aldehyde dehydrogenases family of proteins. It plays a role in a pathway of 9-cis-retinoic acid biosynthesis in vivo. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. Therefore, it is the first known aldehyde dehydrogenase to show a preference for 9-cis-retinal relative to all-trans-retinal. Three transcript variants encoding distinct protein isoforms have been identified for this gene. [provided by RefSeq, Jul 2010] 6 6 6 q23.2 135978855 136011613 - 135280221 135312937 - 135238528 135271260 - 1580863;6480464 11007799;19343046;12477932;8125298;16344560;21832049 64577 E9PKV1;H0YF40;Q9H2A2 ABBA01025846;ABBA01025847;ABBA01025848;AF303134;AK074266;AK222848;AK290784;AK298325;AL021939;AL445190;AMYH01016690;BC020849;BC113862;BC114473;BF590409;BX647324;CH471051;DA635162;NG_012261;NM_001193480;NM_022568;NM_170771 AAG42417;AAI13863;AAI14474;BAD96568;BAF83473;BAH12757;EAW47985;EAW47986;NP_001180409;NP_072090;NP_739577;Q9H2A2 Hs.486520 1665743;1795352;2181511 ALDH8A1_1599;STS-N70701;STS-R89092 ALDH12;DJ352A20.2;DKFZp779D2315;MGC138650 OTTHUMP00000017250;OTTHUMP00000017251;OTTHUMP00000234165;aldehyde dehydogenase 8 family, member A1;aldehyde dehydrogenase 12;aldehyde dehydrogenase family 8 member A1;aldehyde dehydrogenase family protein APPROVED protein-coding ENSG00000118514 15471 06974 606467 REVIEWED 1343915 ALDRL2 aldehyde reductase (aldose reductase)-like 2 8244370 233 421 1344188 ALDH6A1 aldehyde dehydrogenase 6 family, member A1 This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 14 14 14 q24.3 54563821 54588152 - 73596622 73620949 - 74526869 74551196 - 633220;1580863;6480464;6907045;7240710 1527093 19343046;15909363;15489334;14718574;12477932;10947204;8125298;20585627;20379614;18029348;20877624;21988832;21863277 4329 G3V4Z4;J3KNU8;Q02252 ABBA01030732;ABBA01030733;ABBA01030734;AC005484;AF038011;AF148505;AF148855;AF159889;AI244036;AJ249994;AK222687;AK223244;AK294243;AK311478;AK312389;AMYH01005851;AW418653;BC004909;BC032371;CH471061;M93405;NG_012257;NM_001278593;NM_001278594;NM_005589 AAA36328;AAB92620;AAF04489;AAF80380;AAG29581;AAH04909;AAH32371;ABM83847;ABM84606;ABW03530;BAD96407;BAD96964;BAG35306;BAG57539;CAB76468;EAW81158;EAW81159;EAW81160;NP_001265522;NP_001265523;NP_005580;Q02252 Hs.293970;Hs.744472 1652525;1675724;1688963;2110249;2150696;5124539 ALDH6A1_3184;RH69632;RH92479;RH98826;SHGC-54582;STS-R00273 MGC40271;MMSADHA;MMSDH OTTHUMP00000245431;OTTHUMP00000245432;aldehyde dehydrogenase family 6 member A1;malonate-semialdehyde dehydrogenase;methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial;mitochondrial acylating methylmalonate-semialdehyde dehydrogenase APPROVED protein-coding ENSG00000119711 7179 04416 603178;614105 REVIEWED 737371 ALDOB aldolase B, fructose-bisphosphate Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008] 9 9 q21.3-q22.2 103223479 103237926 - 104182842 104198062 - 1300369;1599063;1580863;2313432;2313434;2313440;2313414;1599639;2313429;2302804;2302796;2313437;6480464;6484113;6907045;7240710 8096362;15532022;8264573;12646233;11904435;19106228;16127739;8403244;8255543;5251864;2984252 21832049;17576770;9244396;10625657;18000879;18029348;18700007;18541450;17955389;17457694;17292585;16406649;15880727;15063762;14966907;12477932;12464284;12417303;12205126;11752456;11679716;11399750;11241348;10970798;10024431;8535439;8299883;8162030;7717389;6689266;6585824;6548561;3383242;3016456;3000275;2830249;2649152;2410860;2336380;1967768;20162364;19817957;20033295;21166391;20848650;20882353;22505724;22001757;21890473;21963094;21987572;21988832;22911800 229 P05062;Q5T7D5 ABBA01042874;AK026411;AK290795;AL353621;AMYH01021579;AV645373;AV656265;AW242415;BC029399;BG616536;CH471105;D00183;M15656;NG_012387;NM_000035;X00270;X01098;X02747 AAA51691;AAH29399;BAA00125;BAF83484;CAA25072;CAA25572;CAA26526;EAW58951;EAW58952;NP_000026;P05062 Hs.530274 1668366;1681185;1694892;1699394;1712182;1722427;1741583;1741629;1742007;1742607;1743841;2143814;2170464;2179683;2181332;5111296;5491934 ALDOB-1;D9S1710;D9S2043;G31116;G44329;G54142;G60287;GDB:181545;GDB:181596;GDB:188697;GDB:198061;GDB:374776;RH103288;RH11595;RH46544;RH80895;STS-T50700 ALDB;ALDO2 OTTHUMP00000021803;OTTHUMP00000021804;aldolase 2;aldolase B, fructose-bisphosphatase;fructose-bisphosphate aldolase B;liver-type aldolase APPROVED protein-coding ENSG00000136872 417 01972 229600;612724 REVIEWED 1344311 ALFN1 activator of liver function 1 (hepatic phenotype restoration inducing sequence) 7940018 237 X15584 426 68603 ALDH9A1 aldehyde dehydrogenase 9 family, member A1 This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008] 1 1 q23.1 163898073 163934524 - 165631449 165667900 - 1300048;1580863;6480464;6907045 2925663;8645224;18029348;19343046;19064610;18334916;16710414;12477932;11790142;10702312;9417993;8786138;8269919;8112751;21145461;19536175;19615732;20379614;20562859;20877624;22863883;22990118;15893726;20639865;21139048;21890473;21906983;22505724 223 B4DXY7;B9EKV4;P49189 ABBA01047280;AF172093;AK293520;AK301767;AK302183;AK302191;AK302654;AK312751;AL451074;AMYH01001470;AMYH01001471;BC011410;BC070030;BC151140;BC151141;CH471067;NG_012256;NM_000696;U34252;U50203;X75425 AAB06721;AAB18827;AAF43600;AAI51141;AAI51142;BAG35618;BAG57002;BAG63226;BAG63549;BAG63554;BAG63893;CAA53176;EAW90758;NP_000687;P49189 Hs.2533 1654374;1768091;1797274;2133900 ALDH9A1_701.2;D1S3343;WI-12686;WI-9287 ALDH4;ALDH7;ALDH9;E3;TMABADH 4-trimethylaminobutyraldehyde dehydrogenase;OTTHUMP00000032604;R-aminobutyraldehyde dehydrogenase;aldehyde dehydrogenase (NAD+);aldehyde dehydrogenase E3 isozyme;aldehyde dehydrogenase family 9 member A1;gamma-aminobutyraldehyde dehydrogenase APPROVED protein-coding ENSG00000143149 412 04109 602733 REVIEWED 1318489 ALDH7A1 aldehyde dehydrogenase 7 family, member A1 The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011] 5 5 q31 125908344 125958839 - 125877533 125931082 - 1580863;6480464;6907045;7240710 22305855;9417906;19294602;18854520;18717709;17721876;17433748;17088338;17068770;16491085;16344560;16159904;15489334;14702039;12766061;12477932;10978228;8088832;16169070;19128417;19142996;19885858;20072603;20512086;20562859;20207735;20639122;20814824;20877624;20301659;21832049;22863883;21185811;21338592;18029348;21647815;23376216;21139048;21890473;21988832;22249334;23054014;22784480 501 F8VS02;F8VVF2;F8WD33;F8WDY6;H0YHM6;P49419 ABBA01068902;ABBA01068903;ABBA01068904;AC093535;AC099513;AF002696;AI039375;AK021800;AK092507;AK123774;AK295526;AK297365;AK312459;AMYH01015600;AU135961;BC002515;BC071712;BC073174;BG680326;BU153725;CD678674;CH471086;DB501575;DC375277;NG_008600;NM_001182;NM_001201377;NM_001202404;S74728 AAB31966;AAC51935;AAH02515;AAH71712;AAH73174;ACE86594;ACE87275;BAG35366;BAG58439;BAG59812;EAW48851;NP_001173;NP_001188306;NP_001189333;P49419 Hs.483239 1339760;1340256;1661133;1664391;1669199;2124327;2140109;2144152;2149256;2155264;2186912;5022651;5109362 AFMa128xh5;D11S2921;D17S1239;D5S1933;D5S1972;D5S2017;D5S2464;D5S2596;D5S2646;RH47147;RH65314;RH78357;SGC30136 ATQ1;EPD;FLJ11738;FLJ92814;PDE 26g turgor protein homolog;OTTHUMP00000159189;OTTHUMP00000242046;P6c dehydrogenase;aldehyde dehydrogenase family 7 member A1;alpha-AASA dehydrogenase;alpha-aminoadipic semialdehyde dehydrogenase;antiquitin 1;antiquitin-1;betaine aldehyde dehydrogenase;delta1-piperideine-6-carboxylate dehydrogenase;delta1-piperideine-6-carboxylate dehydrogenease APPROVED protein-coding ENSG00000164904 877 00124 107323;266100 REVIEWED 69125 ALDOC aldolase C, fructose-bisphosphate This gene encodes a member of the class I fructose-biphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzyme that catalyzes the reversible aldol cleavage of fructose-1,6-biphosphate and fructose 1-phosphate to dihydroxyacetone phosphate and either glyceraldehyde-3-phosphate or glyceraldehyde, respectively. [provided by RefSeq, Jul 2008] 17 17 cen-q12 23924260 23928078 - 26900133 26903951 - 734555;1300048;1580863;2301132;2301133;2301134;2301136;6480464;6907045 3105602;17182680;17053973;16356555;3830170 19405953;19110265;19034380;16916647;15589842;15537755;15489334;12477932;11876650;9110174;8619474;5230152;3674018;3267224;2731939;2209624;11399750;9244396;21145461;19686046;20381070;17500595;22863883;22939629;16196087;21139048;21906983;22053931;22505724;22797925 230 A8MVZ9;C9J8F3;J3KSV6;J3QKK1;J3QKP5;K7EKH5;P09972 ABBA01015052;AC005726;AF054987;AK293453;AK293623;AK293693;AK294091;AK294157;AK296039;AK296053;AK312281;AMYH01008279;BC003613;BC065565;BC103760;BC106925;BC106926;BF345067;BT007006;CH471159;CR541862;CR541881;HI574194;NM_005165;X05196;X07292 AAC09348;AAH03613;AAH65565;AAI03761;AAI06926;AAI06927;AAP35652;BAG35210;BAH11512;BAH11551;BAH11572;BAH11668;BAH11685;BAH12243;BAH12245;CAA28825;CAA30270;CAG46660;CAG46679;CBX47586;EAW51104;EAW51105;NP_005156;P09972 Hs.155247 1663727;1698818;2107827 ALDOC_8198;G21480;RH102973 ALDC OTTHUMP00000163435;OTTHUMP00000163436;OTTHUMP00000163437;aldolase 3;aldolase c, fructose-biphosphate;brain-type aldolase;fructoaldolase C;fructose-1,6-biphosphate triosephosphate lyase;fructose-bisphosphate aldolase C APPROVED protein-coding ENSG00000109107 418 02386 103870 REVIEWED 1348986 ALG13 asparagine-linked glycosylation 13 homolog (S. cerevisiae) X q23 110811069 110818680 + 737633;1580863;6907045 12477932 16100110;15772651;15489334;8218172;2649653;2341393;2283726 55849 D6RD27;D6RE84 AF220051;AL096764;BC005336;CH471120;CR604429;NM_018466 AAF67644;AAH05336;EAX02634;EAX02635;EAX02636;EAX02637;NP_060936;Q9NP73 Hs.659791 1678723;1694094;1702312;1702418;1716793;1851404;2174442 AL035135;DXS7012E;RH121691;RH93842;SHGC-16527;UniSTS:99323;WI-14094 CXorf45;GLT28D1;MDS031;YGL047W protein-coding 30881 06635 300776;300884 735815 ALDOA aldolase A, fructose-bisphosphate The protein encoded by this gene, Aldolase A (fructose-bisphosphate aldolase), is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Aldolase A is found in the developing embryo and is produced in even greater amounts in adult muscle. Aldolase A expression is repressed in adult liver, kidney and intestine and similar to aldolase C levels in brain and other nervous tissue. Aldolase A deficiency has been associated with myopathy and hemolytic anemia. Alternative splicing and alternative promoter usage results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Aug 2011] 16 16 p11.2 29971992 29989236 + 30064411 30081741 + 1599054;1599061;1300048;1580863;2302796;2325696;6480464;6484113;6907045;7240710 16930621;10395295;5251864;19077459 1008835;10048322;14766013;17329259;14615364;9244396;17641064;19242545;18328256;18278581;18214967;18029348;17081983;16916647;16344560;16289162;16236267;16097034;15952740;15592455;15489334;15231747;14760703;14669989;12665801;12477932;11876650;11399750;11287212;10369770;8598869;8103323;7821789;6696436;6406231;3840020;3674018;3570299;3441006;3391172;3355497;3046960;3030757;2825199;2335208;2229018;2065091;2056525;1999195;1602151;1353685;955981;844801;766744;14499622;21145461;21319273;19615732;19741270;20181627;20381070;20362419;16712791;20029029;20511553;15967462;12601813;22863883;22990118;23077236;23106098;22996014;21307348;21555518;16335966;22939629;16196087;19135240;20000738;16027165;21853274;22053931;22505724;22944692;22623531;16263121;19738201;19805454;20706999;21565611;21988832;22304920;22623428;23000965;23349634;18781797;20639865;20849852;21078624;21081666;21139048;21890473;21906983;21963094;21987572;22079093;22108332;19471022;16009940;21044950;21628590;22536838 226 H3BMQ8;H3BPS8;H3BQN4;H3BR04;H3BR68;H3BU78;H3BUH7;H3BUK5;J3KPS3;P04075 ABBA01013105;ABBA01013106;AC093512;AK026577;AK098778;AK301993;AK308495;AK308748;AMYH01007497;BC000367;BC004333;BC010660;BC012880;BC013614;BC015888;BC016170;BC016800;BE893518;BQ719865;BU855133;BX647566;CB151262;CH471238;CR536528;CR541880;D28356;DA138954;DA564075;DA893541;DA899482;DB057572;EF036496;EF036497;M11560;M21190;NG_008010;NM_000034;NM_001127617;NM_001243177;NM_184041;NM_184043;X05236;X06352;X12447 AAA51690;AAA51697;AAH00367;AAH04333;AAH10660;AAH12880;AAH13614;AAH15888;AAH16170;AAH16800;ABM81991;ABM85172;ABO65082;ABO65083;BAA05722;BAG63399;CAA28861;CAA29654;CAA30979;CAG38765;CAG46678;EAW79933;EAW79934;EAW79935;EAW79936;NP_000025;NP_001121089;NP_001230106;NP_908930;NP_908932;P04075 Hs.513490;Hs.732822 1679840;1680200;1684618;1685077;1735996;1736544;1744329;1769875 D10S1286E;D10S2367;D16S2545E;GDB:451697;RH47250;RH67859;RH80798;hsaldoa ALDA;GSD12;MGC10942;MGC17716;MGC17767 OTTHUMP00000162983;OTTHUMP00000162984;aldolase a;fructose-1,6-bisphosphate triosephosphate-lyase;fructose-bisphosphate aldolase A;lung cancer antigen NY-LU-1;muscle-type aldolase APPROVED protein-coding ENSG00000149925 414 00070 103850;611881 REVIEWED 1344377 ALG10B ALG10B, alpha-1,2-glucosyltransferase 12 12 12 q12 37514920 37527825 + 36996824 37009795 + 38710557 38723528 + 6480464;6907045 16344560;15280551;14702039;14525949;12477932;19483685;20950623;21906983 144245 F8VWA9;F8VXJ0;Q5I7T1 ABBA01049520;ABBA01049521;AC117372;AK123102;AK307955;AMYH01004385;AY845858;BC137413;BC137414;BQ024224;CH471111;DB224774;DB254106;NM_001013620 AAI37414;AAI37415;AAW31756;EAW57795;NP_001013642;Q5I7T1 Hs.259305 1694724;5024545 D1S3695;G43553 ALG10;KCR1 OTTHUMP00000240708;alpha-1,2-glucosyltransferase ALG10-A;alpha-2-glucosyltransferase ALG10-B;asparagine-linked glycosylation 10 homolog B (yeast, alpha-1,2-glucosyltransferase);asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B;asparagine-linked glycosylation protein 10 homolog B;dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase;modifier of the HERG potassium channel;potassium channel regulator 1;putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase;putative alpha-1,2-glucosyltransferase ALG10-B APPROVED protein-coding 31088 11923 VALIDATED 1604899 ALG11 ALG11, alpha-1,2-mannosyltransferase This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010] 13 13 13 q14.2 33635189 33652418 + 51484551 51501781 + 52586523 52603784 + 6480464;6907045;7240710 17353931;16354793;12477932;20080937;15342556;21139048;20301507;22213132 440138 Q2TAA5;Q5TAP0 ABBA01051053;ABBA01051054;AK025456;AK128503;AK296747;AL139082;AL162377;AMYH01005116;BC010857;BC073862;BC108677;BC111022;BC142998;BP373026;DC366525;HH961780;NG_028038;NM_001004127;NR_036571 AAH10857;AAH73862;AAI11023;AAI42999;AAI43060;AAI50317;BAG59331;CBX51363;NP_001004127;Q2TAA5 Hs.512963;Hs.732220 1648904;1700368;2114518;2124859;2130738 RH103804;SHGC-3226;SHGC-8883;STS-R36092;WI-13764 CDG1P;GT8;KIAA0266;UTP14C GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase;GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase;OTTHUMP00000018446;UTP14, U3 small nucleolar ribonucleoprotein, homolog C;asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog;asparagine-linked glycosylation protein 11 homolog;glycolipid 2-alpha-mannosyltransferase APPROVED protein-coding ENSG00000253710 32456 11265 613661;613666 REVIEWED 6903413 ALG1L12P asparagine-linked glycosylation 1-like 12, pseudogene 8 12278528 12283783 + 100421097 AC087203;AMYH01018523;NG_026086 pseudo 44381 INFERRED 6903415 ALG1L14P asparagine-linked glycosylation 1-like 14, pseudogene 4 9167906 9174517 - 100996649 AC108519 pseudo 44383 MODEL 1321758 ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008] 16 16 16 p13.3 5331197 5346774 + 5061821 5075589 + 5121810 5137380 + 6480464;6907045;7240710 10704531;16344560;16303743;15489334;14973782;14973778;14709599;12975309;12477932;20379614;20679665;16341674;22966035;20301507;21963094;22678362;21987572;21139048;21890473;22359512 56052 B4DP08;K7EID2;K7EPU3;K7EQK1;Q9BT22 AA810665;AB019038;ABBA01026798;ABBA01026799;AC026458;AK075373;AK298144;AK311475;AMYH01007111;AY359073;BC004402;BC031095;BC031873;BM767933;BQ002699;CA455103;CD366777;CH471112;CS051167;DA879477;NG_009202;NM_019109 AAH04402;AAH31095;AAQ89432;ABM85936;ABW03760;BAA90748;BAC11576;BAG60420;CAI72079;EAW85240;EAW85241;NP_061982;Q9BT22 Hs.592086 5112137 a06503sbk CDG1K;HMAT1;HMT-1;HMT1;MT-1;Mat-1;hMat-1 GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase;GDP-mannose-dolichol diphosphochitobiose mannosyltransferase;MT-1;OTTHUMP00000159923;asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase);asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase);asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog;asparagine-linked glycosylation protein 1 homolog;beta-1,4 mannosyltransferase;beta-1,4-mannosyltransferase;chitobiosyldiphosphodolichol beta-mannosyltransferase;hMat-1;mannosyltransferase-1 APPROVED protein-coding 18294 10437 605907;608540 REVIEWED 6901169 ALG1L15P asparagine-linked glycosylation 1-like 15, pseudogene 3 q25.31 155761918 155762739 - 730086 ABBA01058844;AC067721;AC125607;AMYH01013597;NG_008778 1757743;1784704 SHGC-146410;SHGC-149644 pseudo 44384 INFERRED 6903417 ALG1L3P asparagine-linked glycosylation 1-like 3, pseudogene 4 p16.1 9704468 9712436 - 9847074 100132066 ABBA01032504;ABBA01032505;AC098976;AC105916;AMYH01013991;NG_008784 1802842;2020044 ECD02309;REN80978 pseudo 44372 INFERRED 1312492 ALG12 ALG12, alpha-1,6-mannosyltransferase This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008] 22 22 22 q13.33 34218131 34233386 - 48682856 48698110 - 50296852 50312106 - 6480464;6907045;7240710 12217961;15498874;15489334;15461802;15273506;15272470;12736397;12477932;12093361;11983712;10591208;21963094;21988832;20301507 79087 H7C4I6;H7C5R7;Q9BV10 ABBA01031320;AF258571;AF318343;AJ290427;AJ303120;AL671710;AMYH01012887;BC001729;BC098562;BM145575;CB858085;CH471138;CR456369;NG_008927;NM_024105 AAG23774;AAH01729;AAH98562;AAL55850;ABM83756;ABM87075;CAC67488;CAC83681;CAG30255;CAK54650;CAK54949;EAW73480;EAW73481;EAW73482;NP_077010;Q9BV10 Hs.526711 1657410;1684562;1686438;1758453 D22S972E;RH80254;SHGC-148387;SHGC-36778 CDG1G;ECM39;MGC111358;MGC3136;PP14673;hALG12 OTTHUMP00000196969;asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase);asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase);asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog;asparagine-linked glycosylation protein 12 homolog;dol-P-Man dependent alpha-1,6-mannosyltransferase;dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase;dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase;dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase;dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase;mannosyltransferase ALG12 homolog;membrane protein SB87 APPROVED protein-coding ENSG00000182858 19358 06189 607143;607144 REVIEWED 1345350 ALG10 ALG10, alpha-1,2-glucosyltransferase This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium ion channel. [provided by RefSeq, Jan 2010] 12 12 12 p11.1 13983778 13989799 + 34066483 34072504 + 34175216 34181237 + 6480464;6907045;7240710 15489334;14702039;14525949;12477932;12200473;9722534;9597543;17903297;19204726;21139048;21890473;21906983;20301308 84920 F5GZZ6;F5H5T2;Q5BKT4 ABBA01031684;AC046130;AJ312278;AK027657;AK292488;AMYH01004380;BC022336;BC033730;BC070347;BC075807;BC090948;CH471116;NG_016389;NM_032834;W05355 AAH70347;AAH90948;ABM82982;ABM86176;BAB55272;BAF85177;CAC41349;EAW88508;NP_116223;Q5BKT4 Hs.102971 1680715 RH47812 ALG10A;DIE2;FLJ14751;KCR1 OTTHUMP00000240685;alpha-1,2-glucosyltransferase ALG10-A;alpha-2-glucosyltransferase ALG10-A;alpha2-glucosyltransferase;asparagine-linked glycosylation 10 homolog (yeast, alpha-1,2-glucosyltransferase);asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog;asparagine-linked glycosylation protein 10 homolog A;derepression of ITR1 expression 2 homolog;dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase;dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase;potassium channel regulator 1 APPROVED protein-coding 23162 603313;613688 REVIEWED 6903436 ALG1L5P asparagine-linked glycosylation 1-like 5, pseudogene 7 p22.1 6963443 6971462 + 9847074 647415 ABBA01056512;AC079804;AMYH01017056;NG_008785 2020020;2020188 REN80963;REN81060 pseudo 44374 INFERRED 6901398 ALG1L7P asparagine-linked glycosylation 1-like 7, pseudogene 4 p16.3 3937173 3946775 + 728263 ABBA01008231;ABBA01008232;AC143342;AC226119;AMYH01013898;NG_008780 2020190;2114920;5019699 A009G03;G32520;REN81062 pseudo 44376 INFERRED 6903419 ALG1L8P asparagine-linked glycosylation 1-like 8, pseudogene 11 q13.2 67552741 67560816 + 645015 ABBA01024026;AP003716;NG_008772 1768459;2020022;2020024;2020042;2020064;2020070 REN80967;REN80968;REN80977;REN80988;REN80994;SHGC-77297 pseudo 44377 INFERRED 1605265 ALG1L ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 3 3 3 q21.2 124067856 124075639 - 127130808 127138572 - 125648118 125655887 - 12477932 200810 Q6GMV1 ABBA01016401;AC092903;AMYH01013445;BC073816;BI085096;CD685738;CH471052;NM_001015050;NM_001195223 AAH73816;ADR82727;EAW79378;EAW79379;EAW79380;EAW79381;NP_001015050;NP_001182152;Q6GMV1 Hs.591299 1699212;1768459 RH103187;SHGC-77297 ALG1L1 OTTHUMP00000215882;asparagine-linked glycosylation 1-like 1;beta-1,4-mannosyltransferase-like;putative glycosyltransferase ALG1-like APPROVED protein-coding ENSG00000189366 33721 18574 VALIDATED 7241605 ALG3P1 ALG3, alpha-1,3- mannosyltransferase pseudogene 1 15108280 442131 ABBA01016136;AC091978;AMYH01014877;BK001241;NG_004807 pseudo 45159 INFERRED 3378598 ALG1L2 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2 3 3 3 q22.1 128227614 128245632 + 131283550 131300274 + 129800674 129817233 + 12477932;21890473 644974 C9J202 ABBA01059209;AC083906;AMYH01013485;BI833803;CH471052;NM_001136152 C9J202;EAW79228;NP_001129624 Hs.722197 1662590;1665297;1802842;1834048;2020024;2020060;2020078;2020140;2099824;5112137 D21S1819;ECD02309;ECD18172;REN80968;REN80986;REN80998;REN81031;SHGC-52066;a06503sbk;stSG606397 asparagine-linked glycosylation 1-like 2;beta-1,4 mannosyltransferase-like;putative glycosyltransferase ALG1L2 APPROVED protein-coding ENSG00000251287 37258 VALIDATED 1604512 ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit Asparagine (N)-glycosylation is an essential modification that regulates protein folding and stability. ALG13 and ALG14 (MIM 612866) constitute the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation (Averbeck et al., 2007 [PubMed 17686769]).[supplied by OMIM, Jun 2009] 1 1 1 p21.3 93702743 93792951 - 95220885 95311071 - 95448279 95538507 - 6480464;6907045 16100110;15615718;15489334;12477932;17686769;21139048;21890473;22359512;23362303;23404334 199857 Q96F25 ABBA01045501;AC095033;AC105942;AK289395;AMYH01000810;BC011706;BX322578;CH471097;NM_144988 AAH11706;BAF82084;EAW73026;EAW73027;NP_659425;Q96F25 Hs.408927 1337799;1719871;1781856;1847742;2146813 AL009319;AL009906;D1S2819;RH123629;SHGC-84177 MGC19780 OTTHUMP00000012469;UDP-N-acetylglucosamine transferase subunit ALG14 homolog APPROVED protein-coding ENSG00000172339 28287 14466 612866 VALIDATED 6900943 ALG1L6P asparagine-linked glycosylation 1-like 6, pseudogene 3 p12.3 75464218 75473882 + 12477932;16344560 339879 ABBA01030984;AC139453;AMYH01013289;AMYH01013290;NG_008769 1699212 RH103187 pseudo 44375 INFERRED 6903390 ALG1L9P asparagine-linked glycosylation 1-like 9, pseudogene 11 q13.4 71511277 71515701 - 12477932 285407 ABBA01017546;AL534280;AMYH01003789;AP002495;BC054093;BC073927;NR_073386;NR_073387;NR_073388;R18473 Hs.546711;Hs.657094;Hs.689051;Hs.744693 5037552;5110807 D11S3974;D8S2279 pseudo 44378 VALIDATED 6481017 ALG9-IT1 ALG9 intronic transcript 1 (non-protein coding) 100874303 AP001781 miscrna 41409 1353820 ALK anaplastic lymphoma receptor tyrosine kinase This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011] 2 2 p23 29269144 29997936 - 29415640 30144477 - 1600902;1580863;6480464;7240710 15659732 18974134;22203728;19167335;9053841;9174053;11121404;19506219;19459784;19423729;19386350;19305144;19286999;19135051;19074885;18990089;21757253;18923525;18923524;18923523;18845790;18724359;18660380;18615104;18594010;18593892;18458503;18451166;18414414;18320074;18242762;18220322;18166835;18165268;18097461;18083107;18070884;17998938;17922009;17904822;17690253;17681947;17537995;17490616;17274988;17077326;17071493;16880530;16878150;16835382;16825495;16766651;16709933;16651537;16623783;16604305;16565220;16254137;16161041;16153455;15938644;15933425;15928040;15886198;15713979;15592455;15583856;15226403;15161657;15004538;14962911;14656879;14563642;12800156;12763927;12213716;12185581;12122009;12115586;12112524;12036886;11943732;11888936;11877285;11850821;11809760;11387242;11278720;10556217;9819383;9490693;8633037;8122112;18927303;21205076;20424160;20695522;20554525;19131589;20632993;10641597;14968112;18549625;18677384;18788887;19147828;19176054;19250532;19531656;19535344;19589272;19636007;19656549;19656550;19667264;19671850;19717436;19723661;19737969;19834503;20009909;20101209;20169312;20185586;20379614;20731666;20970119;21070126;19887368;20805506;20428197;16344560;19383809;21030459;20621063;20624322;20719933;20098747;20393185;20934803;21129606;21164297;20451371;20957039;21045017;21474455;21356191;21107285;21076462;21420271;21258247;21278610;22249260;22895149;22705117;21233286;21575866;21488949;21656749;21233844;21036415;21753699;21430068;21471522;21518927;23639470;23455922;23490651;21358343;21288922;21336183;21596819;21989914;21587085;21642865;21847065;21784300;21799923;21847362;19455469;22736493;21765024;21933749;21734404;21625996;22124476;22134072;22157554;22071890;22334013;12748172;21632861;22080568;21940108;22286764;23401436;22280150;22334442;22385925;23407557;23407559;22810114;22939624;23064464;23070248;22085494;22071784;19815557;21855164;22129856;22317764;22570254;22184391;22471704;21720997;21972109;20301782;22135231;22327622;22327623;22439933;22646268;16135792;22726922;22569898;22932897;22748945;23154552;22743652;22743654;23050789;23084186;23092569;22892933;23020707;23338972;23139213;22086496;22484425;23335077;22282022 238 B6D4Y2;E7EPW7;H7BZ33;Q9UM73 AB209477;ABBA01045244;ABBA01045245;ABBA01045246;ABBA01045247;ABBA01045248;ABBA01045249;ABBA01045250;ABBA01045251;ABBA01045252;ABBA01045253;ABBA01045254;ABBA01045255;AC074096;AC093756;AC098874;AC106870;AC106899;AK296218;AMYH01010209;AMYH01010210;AMYH01010211;AMYH01010212;AMYH01010213;AMYH01010214;CH471053;DA455128;EU788003;EU788004;EU788005;EU788006;EU788007;EU788008;EU788009;EU788010;FJ838786;FJ838787;GM868985;GU128152;GU128153;GU128154;GU128155;GU128156;GU128157;NG_009445;NM_004304;U62540;U66559 AAB71619;AAC51104;AAI56208;AAI57091;AAX76514;AAX88892;AAX93126;AAY15027;ACI47591;ACI47592;ACI47593;ACI47594;ACI47595;ACI47596;ACI47597;ACI47598;ACY79560;ACY79561;ACY79562;ACY79563;ACY79564;ACY79565;ACZ57900;ACZ57901;BAD92714;BAG58942;CAT16962;EAX00506;EAX00507;EAX00508;NP_004295;Q9UM73 Hs.654469 1298117;1298125;1340486;1646079;1679926;1694698;1696272;1703826;1707294;1710328;1718855;1724041;1726595;1756735;1760911;1764737;1770036;1784004;1784104;1787544;1857791;2140441;2165040;7184043;7184990 D2S146;D2S390;D2S405;FB8C12;G19150;G29204;G43539;G62530;RH119031;RH123131;RH70535;RH92401;SHGC-142979;SHGC-143855;SHGC-144661;SHGC-148322;SHGC-153445;SHGC-155671;SHGC-78963;SHGC-79251;SHGC-82409;SHGC-83664;WI-13310 CD246;NBLST3;TFG/ALK ALK tyrosine kinase receptor;CD246 antigen;OTTHUMP00000201048;anaplastic lymphoma kinase;anaplastic lymphoma kinase (ki-1);mutant anaplastic lymphoma kinase APPROVED protein-coding ENSG00000171094 427 00104 105590;613014 REVIEWED 1320554 ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008] 9 9 q22.33 101018528 101024067 - 101978707 101984246 - 6480464;6907045;7240710 12684507;14999017;11883939;12445460;16957052;17045351;17196169;11278427;19383317;19013425;18936101;17889823;16344560;16303743;15489334;15273506;15272470;15164053;14702039;12975309;12477932;16004603;12804766;20691033;19520058;16751776;20571937;20834162;16996505;18256029;21906983;12771190;17174262;20301507;21890473;23404334;22437941 85365 Q9H553 AA017454;AB161356;ABBA01042903;AK027417;AK027814;AK074704;AK074988;AK075172;AK075189;AL137067;AMYH01021565;AY358697;BC015126;BC017876;CH471105;CQ782967;CQ783609;DA076693;DB019023;NG_008928;NM_033087;NR_024532 AAH17876;AAQ89060;ABM82915;ABM86105;BAB55099;BAC11150;BAC11337;BAC11449;BAD11905;BAG51380;CAF86196;CAF86774;EAW58908;EAW58909;EAW58910;EAW58911;NP_149078;Q9H553 Hs.40919 1683343;1698622;1770047;1772288;1852966;1856869;2110251;2178439 ALG2__4282;D9S2091;RH102866;RH48942;RH78836;RH80035;SHGC-30916;WI-11370 CDGIi;FLJ14511;NET38;hALPG2 GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase;GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase;GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase;OTTHUMP00000123474;alpha-1,3-mannosyltransferase ALG2;alpha-1,3/1,6-mannosyltransferase ALG2;asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase);asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase);asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog;asparagine-linked glycosylation protein 2 homolog;homolog of yeast ALG2 APPROVED protein-coding 23159 09716 607905;607906 REVIEWED 1314369 ALG3 ALG3, alpha-1,3- mannosyltransferase This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 3 3 3 q27.1 182400881 182408077 - 185442811 185449440 - 183960117 183967313 - 1580863;6480464;6907045;7240710 10581255;16006436;15489334;15273506;15272470;15108280;12477932;8552211;1058125;21963094;22472876;21139048;21890473;21906983;20301507;22505724 10195 B4DS50;C9J7S5;F8WE30;F8WF93;H7BZZ2;H7C0X4;Q92685 ABBA01058452;AC061705;AK289361;AK297701;AK299575;AMYH01013714;AW297350;BC002839;BC004313;BC021062;BM920198;BX339649;CH471052;CX761434;HC894865;NG_008924;NM_001006941;NM_005787;NR_024533;NR_024534;Y09022 AAH02839;AAH04313;ABM84086;ABM87455;BAF82050;BAG60059;BAG61512;CAA70220;CBN61874;EAW78282;EAW78283;NP_001006942;NP_005778;Q92685 Hs.478481 1709114;1771576;2146651 D3S2399;RH118405;SHGC-85715 CDG1D;CDGS4;D16Ertd36e;NOT56L;Not56 Not56-like protein;OTTHUMP00000210704;OTTHUMP00000210705;OTTHUMP00000210706;OTTHUMP00000210710;asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase);asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase);asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog;asparagine-linked glycosylation protein 3 homolog;carbohydrate deficient glycoprotein syndrome type IV;dol-P-Man dependent alpha(1-3)-mannosyltransferase;dol-P-Man dependent alpha-1,3- mannosyltransferase;dol-P-Man-dependent alpha(1-3)-mannosyltransferase;dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase;dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase;dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase APPROVED protein-coding ENSG00000214160 23056 03067 601110;608750 REVIEWED 1318934 ALG5 ALG5, dolichyl-phosphate beta-glucosyltransferase This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 13 13 13 q13.3 18591143 18640745 - 36421967 36471477 - 37523907 37573504 - 1580863;6480464;6907045 10359825;15489334;15342556;12477932;11042152;8889548;21139048;21906983 29880 B4DR67;Q9Y673 ABBA01021347;ABBA01021348;ABBA01021349;AF088028;AF102850;AF161498;AF183413;AI027225;AK299085;AK299126;AL138706;AMYH01005041;BC012531;BF668393;BG482604;BP246765;BU739112;CB988638;CH471075;NM_001142364;NM_013338 AAD41465;AAF29113;AAG09682;AAH12531;BAG61149;BAG61179;EAX08577;EAX08578;NP_001135836;NP_037470;Q9Y673 Hs.507769 1662101;2132822 SHGC-34125;STS-W15306 RP11-421P11.2;bA421P11.2 Alg5, S. cerevisiae, homolog of;OTTHUMP00000018263;asparagine-linked glycosylation 5 homolog (S. cerevisiae, dolichyl-phosphate beta-glucosyltransferase);asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase);asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog;asparagine-linked glycosylation protein 5 homolog;dolP-glucosyltransferase;dolichyl phosphate glucosyltransferase;dolichyl-phosphate beta-glucosyltransferase APPROVED protein-coding ENSG00000120697 20266 05193 604565 REVIEWED 1318803 ALG6 ALG6, alpha-1,3-glucosyltransferase This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008] 1 1 p31.3 63605886 63675466 + 63833261 63904233 + 1580863;6480464;6907045;7240710 10359825;11106564;16710414;16321363;15489334;14702039;14517965;12878157;12477932;12357336;12200473;11875054;11558905;11134235;10924277;10914684;9789065;9710431;21899441;20301507 29929 A2A2G4;Q9Y672;R4GMS5 ABBA01074570;ABBA01074571;ABBA01074572;ABBA01074573;AF063604;AF102851;AI479334;AK022700;AK295286;AL049636;AL592218;AMYH01000673;AMYH01000674;AMYH01000675;AU280221;BC001253;BI819904;CB215801;CH471059;NG_008925;NM_013339 AAD41466;AAG43163;AAH01253;BAG51104;BAG58270;EAX06571;EAX06572;EAX06573;EAX06574;NP_037471;Q9Y672 Hs.258501 2109033;2128959;2140778;2148327;2191629 ALG6_9608;G16184;MARC_31587-31588:1062527482:1;RH68218;SHGC-34347 CDG1C Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase;OTTHUMP00000010712;OTTHUMP00000161018;asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase);asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase);asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog;asparagine-linked glycosylation protein 6 homolog;dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase;dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase;dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase;dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase;dolichyl-P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase APPROVED protein-coding ENSG00000088035 23157 05194 603147;604566 REVIEWED 1342764 ALG9 ALG9, alpha-1,2-mannosyltransferase This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 11 11 q23 111158129 111247515 - 111652919 111742305 - 1580863;6480464;6907045;7240710 16859551;16381901;16344560;15945070;15489336;15489334;15148656;14702039;12477932;12030331;11230166;11076863;8125298;14519663;19451548;20301507;21906983;21963094;21988832 79796 H0YCW6;H0YEX8;H0YF48;Q9H6U8 AB096249;ABBA01039812;ABBA01039813;ABBA01039814;AF395532;AF454937;AK025498;AK172828;AK225261;AK298811;AK308025;AL136927;AMYH01004031;AP001781;BC009255;CH471065;DA257621;FP884232;NG_009210;NM_001077690;NM_001077691;NM_001077692;NM_024740 AAH09255;AAL25798;AAP97696;ABM83687;ABM86990;BAB15154;BAD18793;BAG60945;CAB66861;CAL37889;CAL38056;EAW67152;EAW67153;EAW67154;EAW67155;EAW67157;EAW67158;EAW67159;NP_001071158;NP_001071159;NP_001071160;NP_079016;Q9H6U8 Hs.745155 1682577;1768725;2163236;5020414;5022578 D11S4552;D1S1423;G17582;L17688;RH92519 CDG1L;DIBD1;DKFZp586M2420;FLJ21845;LOH11CR1J OTTHUMP00000234195;OTTHUMP00000234196;alpha-1,2-mannosyltransferase ALG9;asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase);asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase);asparagine-linked glycosylation 9 homolog (yeast, alpha- 1,2-mannosyltransferase);asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog;asparagine-linked glycosylation protein 9 homolog;disrupted in bipolar affective disorder 1;disrupted in bipolar disorder protein 1;dol-P-Man dependent alpha-1,2-mannosyltransferase;dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase;dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase;dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase;dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase;loss of heterozygosity, 11, chromosomal region 1 gene J product APPROVED protein-coding 15672 09504 606941;608776 REVIEWED 1313512 ALG8 ALG8, alpha-1,3-glucosyltransferase This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 11 11 11 q14.1 75120467 75159160 - 77489636 77528347 - 77811988 77850699 - 1580863;6480464;6907045;7240710 12200473;12480927;16344560;16303743;15489334;15273506;15272470;15235028;14702039;12477932;11124703;7566098;19648040;20379614;22318606;21963094;21988832;22306853;21139048;21890473;21906983;20301507 79053 E9PK79;E9PKA5;E9PLP7;E9PNE2;E9PP04;E9PP80;E9PP96;E9PR58;H0YCV0;H0YD42;H0YDD3;H0YDQ1;H0YDV4;H0YEE0;Q9BVK2 AA375954;ABBA01017409;ABBA01017410;ABBA01017411;ABBA01017412;ABBA01017413;AJ224875;AK075184;AK075194;AK098614;AK125912;AK309050;AMYH01003825;AMYH01003826;AP002520;BC001133;BC017892;CH471076;DB362104;NG_008926;NM_001007027;NM_024079 AAH01133;ACE87135;BAG52080;CAA12176;EAW75048;EAW75049;EAW75050;EAW75051;NP_001007028;NP_076984;Q9BVK2 Hs.503368 1657250;5037552 D8S2279;STS-N35710 CDG1H;MGC2840 HUSSY-02;OTTHUMP00000233643;OTTHUMP00000233644;asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase);asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase);asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog;asparagine-linked glycosylation protein 8 homolog;dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase;dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase;dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase;dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase;dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl-alpha-1,3-glucosyltransferase;probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase APPROVED protein-coding ENSG00000159063 23161 10480 608103;608104 REVIEWED 1318033 ALKBH1 alkB, alkylation repair homolog 1 (E. coli) This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 58177259 58212868 - 77208502 77244109 - 78138749 78174356 - 1580863;6480464 8600462;18603530;15489334;12594517;12508121;12477932;19959401;18163532;23577621;21906983;21956739;22872573 8846 G3V4M4;H0YJF3;Q13686;Q5XKL0 ABBA01030646;AC008044;AMYH01005884;BC015024;BC025787;BX537699;CH471061;NM_006020;X91992 AAF01478;AAH15024;AAH25787;ABM84629;ABM92160;CAA63047;EAW81300;EAW81301;EAW81302;NP_006011;Q13686 Hs.94542 2134774;2143566;2152596;5015881;5022450;5115304 D10S275;G35523;GDB:335751;RH46436;RH69686;STS-X91992 ABH;ABH1;ALKBH;alkB;hABH DNA lyase ABH1;DNA oxidative demethylase ALKBH1;OTTHUMP00000246383;alkb, alkylation repair homolog (e. coli);alkylated DNA repair protein alkB homolog 1;alkylation repair, alkB homolog;alpha-ketoglutarate-dependent dioxygenase ABH1 APPROVED protein-coding ENSG00000100601 17911 605345 REVIEWED 1352016 ALKBH7 alkB, alkylation repair homolog 7 (E. coli) 19 19 19 p13.3 6311231 6314048 + 6323444 6326040 + 6372444 6375261 + 737633;6480464 12477932 15489334;12975309;8125298;21182205;21832049;22318606;23666923 84266 M0QZH2;M0QZI0;Q9BT30 ABBA01055961;AC011491;AK223336;AK311956;AMYH01009372;AY358858;AY427650;BC004393;BM271861;BX334356;CH471139;NM_032306 AAH04393;AAQ89217;AAR24624;BAD97056;BAG34896;EAW69102;NP_115682;Q9BT30 Hs.111099 1684511;2159914 RH65607;RH93760 ABH7;MGC10974;SPATA11;UNQ6002 alkylated DNA repair protein alkB homolog 7;alpha-ketoglutarate-dependent dioxygenase alkB homolog 7;probable alpha-ketoglutarate-dependent dioxygenase ABH7;spermatogenesis associated 11;spermatogenesis cell proliferation related protein;spermatogenesis cell proliferation-related protein;spermatogenesis-associated protein 11 protein-coding ENSG00000125652 21306 15425 613305 VALIDATED 1606677 ALKBH3 alkB, alkylation repair homolog 3 (E. coli) The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 (MIM 610602) and ALKBH3 are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008] 11 11 11 p11.2 44048227 44087676 + 43858971 43898389 + 43902357 43941825 + 6480464 12486230;18029348;17968469;16858410;16344560;16174769;15489334;14702039;12594517;12477932;8570611;21285982;20970119;20525795;20714506;22055184;22826605;22515525 221120 E9PN35;E9PRD0;E9PRJ2;E9PSA5;H0YDH4;Q96Q83 AB042029;ABBA01060774;AC087521;AK125602;AK315266;AMYH01003521;BC015155;BC067257;BC103812;BC103813;BC103814;CD364334;CH471064;CQ786761;DA685031;DQ196343;NM_139178;U38442 AAH15155;AAH67257;AAI03813;AAI03814;AAI03815;ABA27096;BAB70508;CAG17896;EAW68078;EAW68079;NP_631917;Q96Q83 Hs.720708 1667163;1776050;2122138 RH16415;RH48832;SGC33963 ABH3;DEPC-1;DEPC1;FLJ43614;MGC118790;MGC118792;MGC118793;PCA1 OTTHUMP00000232849;OTTHUMP00000232859;alkylated DNA repair protein alkB homolog 3;alpha-ketoglutarate-dependent dioxygenase alkB homolog 3;prostate cancer antigen 1;prostate cancer antigen-1 APPROVED protein-coding ENSG00000166199 30141 16793 610603 VALIDATED 1605008 ALKBH2 alkB, alkylation repair homolog 2 (E. coli) The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008] 12 12 q24.11 108010379 108015628 - 109525993 109531293 - 6480464 22659876;22079122;22318606;12486230;18519673;18432238;18270339;16344560;16341674;16174769;15489334;15146197;12594517;12477932;20661249;18775698;19290481;20042601;20714506;17207965;20525795;21155885;21510633;23258843;21139048;21890473;23000965;23279696 121642 F5GZZ0;F5H5S2;F5H5X2;Q6NS38 AB277859;ABBA01005060;ABBA01005061;AC011596;AI278638;AK309062;AMYH01004735;AY754389;BC070489;BM785502;BM790974;BM820131;BU623121;CH471054;CN421655;CQ786763;DA182735;NM_001001655;NM_001145374;NM_001145375;NM_001205179;NM_001205180 AAH70489;AAV28301;ADQ32022;BAF56576;CAG17897;EAW97845;NP_001001655;NP_001138846;NP_001138847;NP_001192108;NP_001192109;Q6NS38 Hs.374458 1646315;1772394;2140868;2165930 D20S1119;RH45951;STS-D60111;WI-20815 ABH2;FLJ99103;MGC90512 2OG-Fe(II) oxy DC1;DNA oxidative demethylase ALKBH2;OTTHUMP00000240521;OTTHUMP00000240522;alkylated DNA repair protein alkB homolog 2;alpha-ketoglutarate-dependent dioxygenase alkB homolog 2;oxy DC1 APPROVED protein-coding ENSG00000189046 32487 14712 610602 VALIDATED 1603303 ALKBH4 alkB, alkylation repair homolog 4 (E. coli) 7 7 7 q22.1 97108971 97117656 - 101883690 101892293 - 102096667 102105321 - 6480464 15489334;14702039;12477932;17207965;17979886;8125298;21166655;18029348;23145062 54784 Q9NXW9 ABBA01011281;ABBA01011282;AC093668;AK000020;AK026097;AK222689;AMYH01017770;BC002820;BC017096;BX353099;CA420615;CH471197;CS300642;NM_017621 AAH02820;AAH17096;ADQ31831;BAA90888;BAB15358;BAD96409;CAK32306;EAW50249;NP_060091;Q9NXW9 Hs.658598 5014467 GDB:313557 ABH4;FLJ20013 OTTHUMP00000212413;alkylated DNA repair protein alkB homolog 4;alpha-ketoglutarate-dependent dioxygenase alkB homolog 4;probable alpha-ketoglutarate-dependent dioxygenase ABH4 protein-coding ENSG00000160993 21900 07875 613302 VALIDATED 6481119 ALMS1-IT1 ALMS1 intronic transcript 1 (non-protein coding) 100874291 AC074008 miscrna 41305 1605913 ALKBH6 alkB, alkylation repair homolog 6 (E. coli) 19 19 19 q13.12 33214202 33219321 - 41191862 41196981 - 36500022 36505141 - 6480464 12477932;8889548 84964 E9PI76;E9PIA1;H0YD66;H0YD83;H0YDL7;H0YEC4;H0YEM5;Q3KRA9 AB273714;ABBA01018777;AC002116;AK304805;AK310130;AK310704;AK314150;AK315894;AMYH01009737;BC007601;BC036061;BC105801;BM713594;BU963363;NM_032878;NM_198867 AAI05802;BAF63844;BAF98785;BAG36837;BAG65555;NP_116267;NP_942567;Q3KRA9 Hs.71941 1670380;2110321;2153649;2161210;2169509;5015619 CLIPR-59__4586;D11S3114;D19S673E;RH12731;RH48333;WI-15016 ABH6;MGC15677 OTTHUMP00000045817;OTTHUMP00000180599;OTTHUMP00000233159;OTTHUMP00000233160;alkylated DNA repair protein alkB homolog 6;alkylation repair homolog 6;alpha-ketoglutarate-dependent dioxygenase alkB homolog 6;probable alpha-ketoglutarate-dependent dioxygenase ABH6 protein-coding ENSG00000239382 28243 17510 613304 VALIDATED 1602194 ALKBH8 alkB, alkylation repair homolog 8 (E. coli) 11 11 11 q22.3 104528270 104591267 - 106880541 106941637 - 107373453 107436461 - 6480464 19293182;14702039;12477932;20308323;17207965;18029348 91801 C9JQN2;Q96BT7 AB218768;ABBA01039880;ABBA01039881;AF086489;AK095523;AK293603;AK298800;AK304413;AMYH01004014;AP001823;BC015183;BX649085;CH471065;NM_138775 AAH15183;ADQ31655;BAC04566;BAG16270;BAG57067;BAG60935;BAG65244;EAW67088;EAW67089;EAW67090;NP_620130;Q96BT7 Hs.503763 1680302;1739187;1748347;2168522;2176174 D11S3957;D11S4571;G17588;G66900;RH93706 ABH8;FLJ38204;MGC10235 AlkB homologue 8;OTTHUMP00000211286;OTTHUMP00000211287;OTTHUMP00000232587;S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8;alkylated DNA repair protein alkB homolog 8;probable alpha-ketoglutarate-dependent dioxygenase ABH8;tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ABH8 protein-coding ENSG00000137760 25189 14287 613306 VALIDATED 1606590 ALOX12P1 arachidonate 12-lipoxygenase pseudogene 1 17 17 17 q11 25718217 25730977 + 25880817 25893577 + 28856691 28869451 + 1570320 243 ABBA01015000;AC005562;AC011840;AMYH01008304;NG_000844 ALOX12P pseudo 431 INFERRED 1603209 ALKBH5 alkB, alkylation repair homolog 5 (E. coli) 17 17 17 p11.2 19028003 19054331 + 18027592 18053993 + 18086867 18113268 + 6480464 12477932;11997338;8889548;14702039;15489334;22318606;21264265;21139048;21890473;19322201;22113938;23251661;23177736 54890 K7ER58;Q6P6C2 ABBA01009738;AC087164;AC109515;AK000129;AK000315;AK025817;AK301107;AK311161;AK311511;AL137263;AMYH01008165;BC062339;BI823385;BU740432;CH471196;NM_017758 AAH62339;BAA91078;BAG62706;EAW55661;EAW55662;NP_060228;Q6P6C2 Hs.744130 1676238;1732125;2175916 D17S976;RH75515;STS-H01962 ABH5;FLJ20308;OFOXD;OFOXD1 OTTHUMP00000065701;RNA demethylase ALKBH5;alkylated DNA repair protein alkB homolog 5;alpha-ketoglutarate-dependent dioxygenase alkB homolog 5;oxoglutarate and iron-dependent oxygenase domain containing;probable alpha-ketoglutarate-dependent dioxygenase ABH5 protein-coding ENSG00000091542 25996 08621 613303 VALIDATED 1354244 ALOX12P2 arachidonate 12-lipoxygenase pseudogene 2 17 17 17 p13 6821120 6829473 + 6697619 6744392 + 6756895 6803668 + 6480464 12477932;9691181;1570320 245 ABBA01054838;AC027763;AF020774;AF020775;AL832768;AMYH01008061;AMYH01008062;BC041851;NR_002710 Hs.378695 5022200;5037552 D8S2279;L18426 ALOX12E;MGC43625 pseudo 432 VALIDATED 1606431 ALMS1P Alstrom syndrome 1 pseudogene 2 2 2 p13.1 73722887 73763538 + 73721506 73766207 + 73872046 73912699 + 6480464 16344560;12477932;20383145;23535967 200420 Q96L16 ABBA01075584;AC092653;AK307160;AMYH01010438;AMYH01010439;BC014492;CH471053;DA427693;NR_003683 ABM83977;ABM87298;EAW99725;EAW99726;Q96L16 Hs.739204;Hs.745426 1696998;1765527;1796390;2170787 NAT8_959;RH101973;RH15629;SHGC-149003 ALMS1L pseudo ENSG00000163016 29586 11245 VALIDATED 736731 ALLC allantoicase Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.[supplied by OMIM, Nov 2008] 2 2 2 q35 3714865 3759339 + 3683661 3728136 + 3705786 3750261 + 1580863;6480464;6907045 16344560;15815621;15489334;12477932;12036579;11054555;23251661 55821 B4DY77;Q8N6M5 ABBA01006100;ABBA01006101;AC010907;AF215924;AF395820;AK302299;AMYH01010074;BC029652;BC035356;CH471053;DB054905;NM_018436 AAF67097;AAH29652;AAH35356;AAK72970;AAY24236;BAG63639;EAX01050;EAX01051;NP_060906;Q8N6M5 Hs.97899 1678415;2175340 D18S1347;RH98402 ALC OTTHUMP00000200095;allantoate amidinohydrolase;probable allantoicase APPROVED protein-coding ENSG00000151360 17377 10642 612396 VALIDATED 1345047 ALOX15P1 arachidonate 15-lipoxygenase pseudogene 1 17 17 17 6586307 6590535 + 6496500 6521525 + 6561038 6564701 + 11350124 100652883 ABBA01054837;AC004706;AMYH01008061;BG760841;DY655533;NR_045985 Hs.549540 ALOX15P APPROVED pseudo 13742 VALIDATED 4144232 ALOX15P2 arachidonate 15-lipoxygenase pseudogene 2 9 9 9 q22.31 66099611 66125646 + 94697631 94723663 + 95675441 95683839 + 642959 ABBA01018599;AL389924;AMYH01021510;NG_028727 1751823 SHGC-105834 pseudo 39027 INFERRED 1313295 ALOX12B arachidonate 12-lipoxygenase, 12R type This gene encodes an enzyme involved in the converstion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Jul 2008] 17 17 p13.1 7916679 7931746 - 7975954 7991021 - 1580863;1578309;6480464;6484113;6907045;7240710 12432922 9618483;19372141;19131948;19064572;19023099;18347291;17975119;17436029;17139268;15629692;15489334;14702039;12664578;12477932;11773004;11368351;11350124;10727209;9837935;18086569;19423540;19558494;19890349;20406964;20438785;22441738;22622417;21821891;20301593 242 O75342 ABBA01054895;AC129492;AF038461;AF059250;AJ305026;AJ305027;AMYH01008088;BC041058;CH471108;NG_007099;NM_001139 AAC39770;AAC79680;AAH41058;CAC34520;EAW90095;NP_001130;O75342 Hs.136574 12R-LOX;ARCI2 12R-lipoxygenase;OTTHUMP00000135320;arachidonate 12-lipoxygenase, 12R-type;epidermis-type lipoxygenase 12 APPROVED protein-coding ENSG00000179477 430 04772 242100;603741 REVIEWED 1322469 ALOX12 arachidonate 12-lipoxygenase 17 17 p13.1 6840108 6854779 + 6899384 6914055 + 1578303;1580863;1578309;1578308;2313845;2313877;2313872;2313875;2315607;2315608;2315609;2315610;2315611;5509594;5509789;5509621;5509628;5509597;5509614;5509617;5509787;5509788;6480464;6907045 14669797;12432922;15896353;19103735;9500559;7511046;18640486;19282568;14532840;14767568;14654968;7624992;20978234;16445702;7679252;18780776;20554417;16118253;15518705;15623566;8304420 2217179;2377602;10727209;15105833;15305153;15111312;12858336;15010818;15107407;19328558;19046748;18992148;18755188;18676680;18547056;18504448;18187376;17893696;17520163;17460548;17379189;17236225;17192687;17151091;17045234;16788089;16638750;16598376;16514435;16482570;16118214;15797645;15729574;15489334;15308583;15142951;12907138;12731864;12664578;12664573;12664313;12538614;12477932;12394183;11914583;10760478;10446449;9082968;8912711;8641843;7868854;3926763;3406043;2244907;1570320;1447217;15474031;18086569;19170196;19423540;19469483;19625176;19663136;19692168;19885615;19948975;20061896;20089617;20181616;20406964;20431935;20438785;20453000;21127289;20382140;20653566;21094135;19913121;20592751;20626912;20628086;20697415;21085606;20570249;22924777;21225230;22275252;21945939;21104233;22237009;22089472;22384268;22323304;22668814;22825379;1851637;8250832;8319693;9751607;23578768;22980500;22864639 239 K7ENN9;P18054 ABBA01054844;ABBA01054845;AC040977;AF143883;AMYH01008064;AMYH01008065;AY527817;BC069557;CH471108;D12638;M35418;M58704;M62982;M87004;NM_000697;S68587;S68588 AAA51533;AAA51587;AAA59523;AAA60056;AAD14020;AAD14021;AAD32700;AAH69557;AAS00094;BAA02162;EAW90281;NP_000688;P18054 Hs.654431 1697340;1724417;1745453;1789727;1851250;2181972;2218986 ALOX12_4210;GDB:607713;RH102167;RH122370;SHGC-12725;WI-17813;csnpalox12-pcr1-1 12-LOX;12S-LOX;LOG12 12(S)-lipoxygenase;12S-lipoxygenase;OTTHUMP00000128281;arachidonate 12-lipoxygenase, 12S-type;platelet 12-LOX;platelet-type 12-lipoxygenase;platelet-type lipoxygenase 12 protein-coding ENSG00000108839 429 01066 152391 VALIDATED 1323128 ALMS1 Alstrom syndrome 1 This gene encodes a protein containing a large tandem-repeat domain. The mouse ortholog of this gene has been shown to function in ciliogenesis in inner medullary collecting duct cells. Mutations in this gene have been associated with Alstrom syndrome. Alternative splice variants have been described but their full length sequences have not been determined.[provided by RefSeq, Mar 2009] 2 2 p13 73466394 73690554 + 73612886 73837046 + 1601169;1580863;1576431;6480464;7240710 11941369;15855349 22876109;19091203;18506366;17594715;16601972;15815621;15489334;14654843;14646408;12827243;12477932;12168954;11941370;10598815;9205841;9063741;12421765;19913121;20628086;11076968;12221128;12852856;16462731;19283855;20379614;20381594;20383146;7790358;20801516;20383145;20301444;20844083;21541333;22990118;18029348;21901789;21963094;22895009;21139048;21906983;21886157;21931564;22693585;22190034;22505724 7840 A6NMY3;B8ZZJ3;H7C1D9;Q8TCU4 AB002326;ABBA01075580;ABBA01075581;ABBA01075582;AC074008;AC092653;AC096546;AJ417593;AL832273;AL833495;AMYH01010436;AMYH01010437;AX751581;BC035025;BC050330;BX647706;BX648632;CH471053;EF151141;NG_011690;NM_015120 AAH35025;AAH50330;AAX82023;AAY24208;ABL96615;BAA20786;CAD10391;CAE11759;EAW99728;EAW99729;EAW99730;EAW99731;NP_055935;Q8TCU4 Hs.184720 1683697;1686712;1749491;1751141;1774323;1848694;2120518;2133151 D2S2065;D2S2608;D2S2696;RH12381;RH45615;RH98437;SHGC-105060;SHGC-111206 ALSS;DKFZp686A118;DKFZp686D1828;KIAA0328 Alstrom syndrome protein 1;OTTHUMP00000202344;OTTHUMP00000202401 APPROVED protein-coding ENSG00000116127 428 06023 203800;606844 REVIEWED 6777891 ALOXE3P1 arachidonate lipoxygenase 3 pseudogene 1 17 7974704 7975848 + 100420216 ABBA01054895;AC129492;AMYH01008088;NG_026215 1756139 SHGC-142949 pseudo 44238 INFERRED 1352372 ALOX15 arachidonate 15-lipoxygenase 17 17 p13.3 4480963 4491709 - 4534214 4544960 - 1580863;70288;5509611;5509618;5509620;5509625;5509626;5509605;5509607;5128564;5509623;5509627;5509595;5509622;1642301;5509597;5509598;5509608;5509610;5509613;5509615;5509784;5509599;6480464;6484113;6907045 8117750;17940120;15328042;15111312;19787041;19752233;19628725;18941242;7967345;20724598;19546247;20570249;20967760;16497176;20554417;20167207;18635843;18206890;17384141;15708862;18692885;19675173 19131661;19131063;19089921;19046748;18799463;18785202;18774388;18755188;18692814;18684974;18676680;18647347;18547056;18392641;18239141;18227726;18198215;18187376;18180398;18090132;18067895;17991885;17959182;17662651;17652958;17520163;17439326;17344094;17227895;17164146;17043146;16997127;16847316;16820097;16598376;16556493;16357157;16320347;16179498;16000313;15996861;15967444;15912043;15879104;15838625;15489334;15459485;15194425;14757756;14643174;12907138;12748293;12731864;12664628;12664577;12477932;12084190;11956198;11861792;11475334;11196700;11023533;10464294;9931410;9822675;9700053;9414270;9224951;7961680;3356688;3202520;2719708;2010530;1944593;1825526;1733732;1729692;3202857;10200270;19325142;19198625;22472308;1662607;1570320;1566855;21094135;22078795;17711445;19130894;19170196;19296842;19423540;19429775;19453261;19469483;19481615;19497113;19528634;19568414;19576981;19625176;19663136;19692168;19752603;19775287;19942621;19948975;20308035;20406964;20438785;18029348;20382140;20649594;20861348;19913121;20485444;20592751;20628086;20676957;20668019;22652554;23285160;23066085;21558275;21831839;21771656;21544861;22275252;22301860;22094113;21881028;22037943;22089472;22210710;22516296;22351111;22825379;23181793;22879973;22750246 246 B7ZA11;F5H0G8;I3L175;P16050 ABBA01054771;ABBA01054772;AC118754;AK290309;AK296792;AK296821;AK296904;AK312557;AK316126;AMYH01008040;AY505111;BC029032;CH471108;M23892;M95923;NM_001140;U63384;U88317 AAA35482;AAA36182;AAB49305;AAC52118;AAH29032;AAR84235;BAF82998;BAG35454;BAH12431;BAH12437;BAH12452;BAH14497;EAW90427;EAW90428;NP_001131;P16050 Hs.73809 1660751;2128006;2190225;2190227;5022651 ALOX15-A611G;ALOX15-F4-R4;D11S2921;SHGC-35280;STS-U88317 15-LOX-1;15-LOX2;15LOX-1 15-LOX;15-lipooxygenase-1;OTTHUMP00000115936;arachidonate 15-lipoxygenase;arachidonate omega-6 lipoxygenase protein-coding ENSG00000161905 433 01067 152392 VALIDATED 1343226 ALPK2 alpha-kinase 2 18 18 18 q21.31 52864790 53011746 - 54299459 54447169 - 56148479 56296189 - 6480464 14702039;10021370;21833088;22641666;19690890 115701 Q86TB3 ABBA01056149;ABBA01056150;ABBA01056151;ABBA01056152;ABBA01056153;AC104971;AC105105;AK092133;AK092194;AK125243;AL832018;AMYH01009026;AY044450;BX647446;BX647639;BX647796;CH471096;NM_052947 AAI72418;AAK95952;BAC03812;CAD89922;EAW63077;NP_443179;Q86TB3 Hs.628152 1644577;1655565;1679866;1783682;1851282 D18S881;G18021;RH99213;SHGC-145775;STS-R27572 FLJ34875;FLJ43253;HAK OTTHUMP00000163641;alpha-protein kinase 2;heart alpha-kinase;heart alpha-protein kinase protein-coding ENSG00000198796 20565 11019 VALIDATED 731629 ALOX15B arachidonate 15-lipoxygenase, type B This gene encodes a member of the lipoxygenase family of structurally related nonheme iron dioxygenases involved in the production of fatty acid hydroperoxides. The encoded protein converts arachidonic acid exclusively to 15S-hydroperoxyeicosatetraenoic acid, while metabolizing linoleic acid less effectively. This gene is located in a cluster of related genes and a pseudogene that spans approximately 100 kilobases on the short arm of chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 17 17 p13.1 7883083 7893177 + 7942358 7952452 + 1580863;1578310;6480464;6907045 12432923 11839751;9177185;19064572;18156936;17139268;16682954;16556493;15799828;15797645;15489334;15342556;15247906;12704195;12659684;12477932;11350124;10542053;2318885;20428779;19423540;19645454;19661680;20406964;20438785;20677014;20668019;21316676;22939629;22078795;21900394;21951814;22980500 247 I3L1D5;O15296 ABBA01054895;AC129492;AF149095;AF468051;AF468052;AF468053;AF468054;AJ305028;AJ305029;AJ305030;AJ305031;AK292779;AK298095;AK300554;AMYH01008087;BC033294;BC035217;BC063647;BP327830;CA307212;CA405703;CH471108;NG_029482;NM_001039130;NM_001039131;NM_001141;U78294 AAB61706;AAD37786;AAH35217;AAH63647;AAL76274;AAL76275;AAL76276;AAL76277;ABM82271;ABW03380;BAF85468;BAG60380;BAG62260;CAC34521;EAW90097;EAW90098;EAW90099;EAW90100;EAW90101;EAW90102;NP_001034219;NP_001034220;NP_001132;O15296 Hs.111256 1736949;1762115;1793342 D17S561;PMC21017P1;SHGC-146014 15-LOX-2 15-LOX-B;15-lipoxygenase 2;15S-lipoxygenase;OTTHUMP00000135321;arachidonate 15-lipoxygenase 2;arachidonate 15-lipoxygenase B;arachidonate 15-lipoxygenase type II;arachidonate 15-lipoxygenase, second type;arachidonate omega(6) lipoxygenase APPROVED protein-coding ENSG00000179593 434 04739 603697 REVIEWED 732775 ALOX5 arachidonate 5-lipoxygenase This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 10 10 q11.2 45189635 45261571 + 45869624 45941567 + 734559;1331525;734558;734557;1580863;1626154;1626153;1626152;1300048;1578311;632195;1626150;1626151;2313910;2317527;2317529;2317531;2317535;2317536;2317521;2317523;2317524;2317522;2317525;2317533;4890414;4890432;4890435;4890413;4890422;4890423;4890433;4890410;4890411;4890419;4890430;4890415;4890434;4890418;4890420;4890421;4890407;4890429;4890405;4890417;4890408;5147463;5147462;5147467;5147465;6480464;6907045;7240710 14702425;15118671;8647941;10369259;9445303;11832453;14769366;15107407;11468001;17182931;16331105;17517102;20011686;19884440;19816089;19194550;19194548;18507031;12481414;12163367;16024599;20204486;19580807;17118201;8111595;20231413;17394438;11035107;10984370;1386887;18204779;18174194;12773506;8621765;16364163;1886988;14726295;12490039;11865407;20128419;9109363;20067482;15894604;19033731;16677242;8879219;9642160;12911785 21224059;19224689;22363630;22616993;10514459;9435249;9150468;9079648;8585605;8268460;8245774;8125298;8066098;7929073;7624354;7556168;10051563;3422434;3134355;2565035;2251250;1939225;1540191;12354292;9639560;2829172;11297527;19423540;19258923;19247692;19233132;19214143;19134178;19131661;19130089;19083497;19075240;19053751;19022417;18996667;18992148;18991687;18978352;18976020;18927292;18843019;18842779;18678882;18676680;18571838;18525291;18421434;18421027;18398223;18369664;18366797;18339529;18295198;18280718;18218859;18180307;18179798;17924829;17909879;17894944;17825794;17521309;17500032;17467166;17460547;17434678;17373938;17373700;17236225;17115186;17080223;17072961;17703412;17616938;17018618;16924104;16919603;16899822;16750418;16733792;16698924;16672272;16537708;16531984;16495221;16413224;16402861;16361798;16293801;16275640;16165096;16135563;15933245;15923196;15848143;15661803;15616590;15308583;15301234;15280375;15219851;15010818;14767568;14749922;14532840;12907138;12893830;12859962;12751769;12751768;12751728;12730086;12695552;12664574;12629151;12525578;12477932;12234060;12140292;12111389;12107604;12021253;11844797;11796736;11471199;11462800;10779545;10673219;16385451;19170196;19390118;19446447;19450127;19473080;19497113;19524426;19578796;19625176;19692168;19717473;19724895;19807693;19851296;19888660;19919819;19948975;20110601;20126469;20173757;20198315;20388081;20406964;20453000;20503287;20438785;20139978;21233389;20382140;19913121;20592751;20628086;20677014;20682687;20372792;20549218;21098726;21403093;21314617;21482803;22433003;21200133;21296957;21605700;21540635;21723968;22282663;21883892;22690932;22253131;21729626;22293202;22050225;22516296;22739369;23351835;11785969;22825379;23079278;21832049;22808264;23179791 240 E5FPY8;P09917 AB208946;ABBA01050026;ABBA01050027;AK225603;AK315223;AL731567;AMYH01002299;AMYH01002300;AMYH01002301;AW403395;BC034464;BC040450;BC130332;BC132677;BC143985;BC143986;BM153780;BQ003253;CH471160;HM592258;HM592259;HM592260;HM592261;J03571;J03600;J04520;JQ728550;M38191;NG_011437;NM_000698;NM_001256153;NM_001256154 AAA36183;AAA59522;AAA63212;AAA65450;AAI30333;AAI32678;AAI43986;ADR30798;ADR30799;ADR30800;ADR30801;ADR83089;AFH78150;BAD92183;EAW86642;EAW86643;NP_000689;NP_001243082;NP_001243083;P09917 Hs.89499 1667193;1682027;1688642;1698404;2110253;2128207;2131506;2146763;2157950;2187215;5017485;5020274;5022615;5118686 ALOX5;ALOX5_4211;D10S1413;D11S2467;D11S3553;L18441;RH102744;RH17822;RH40180;RH79041;RH98891;SHGC-59903;SHGC-60141;WI-9162 5-LO;5-LOX;5LPG;LOG5;MGC163204 5-lipoxygenase;LOX-5;OTTHUMP00000019502;arachidonate 5-lipoxygenase;arachidonic 5-lipoxygenase alpha-10 isoform;arachidonic 5-lipoxygenase delta-10-13 isoform;arachidonic 5-lipoxygenase delta-13 isoform;arachidonic 5-lipoxygenase delta-p10 isoform;arachidonic acid 5-lipoxygenase;leukotriene A4 synthase APPROVED protein-coding ENSG00000012779 435 01065 152390;600807 REVIEWED 736460 ALOX5AP arachidonate 5-lipoxygenase-activating protein This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011] 13 13 q12 30207669 30236556 + 31287615 31338565 + 1578317;1331525;1580863;632195;2313883;2313884;2313886;2313891;2313892;2313900;2313902;2313907;2311309;2313910;69749;2313931;2313895;2313903;2313905;2313913;2313888;734558;4890422;4890409;1626154;4890421;4890407;4890405;5147466;5147461;5147464;5147465;4890420;5147467;5147469;5147462;6480464;7240710 14770184;15118671;11468001;19596330;19596146;19373490;19046748;18977990;18945963;18843019;17922411;18506375;17517102;2300173;14733414;18959458;18591367;18258817;17379835;19288030;8647941;11035107;18547289;9445303;11865407;20128419;20067482;10527888;19364335;15784112;12911785;12490039;9642160;19749079;8879219 22051033;19233132;17600184;8245774;19417766;19361804;19336475;19166692;19131661;19130089;19126581;18775537;18398440;18398223;18374923;18369664;18366797;18323512;18318662;18084092;17655870;17627106;17505527;17460547;17387518;17304054;16939001;16778124;16282974;16144515;16127181;15886380;15876305;15861005;15731479;15640973;15593193;15489334;15057823;14749922;14702425;12629151;12571239;12477932;11090070;10036194;9435249;8777565;8703034;8440384;8071328;8049076;7938075;1857337;1673682;1588922;22074807;22726381;21227888;19423540;19450127;19524426;19622707;19729601;19948975;20014490;20194722;20357438;20369037;20376802;20379614;20406964;20438785;20485444;20592751;20810156;21199733;22849376;21675249;21153769;21816595;21893978;22206291;22129473;22537113 241 P20292 ABBA01035689;AK314143;AL512642;AMYH01005011;AY619687;BC018538;BG569867;BQ003388;CH471075;M60470;M63259;M63260;M63261;M63262;NG_011963;NM_001204406;NM_001629 AAA35845;AAH18538;AAT38104;ABM82573;ABM85762;EAX08467;NP_001191335;NP_001620;P20292 Hs.507658 1717711;1755397;1765595;2113416;2113470 D13S1772;D13S1800;RH121762;SHGC-142275;SHGC-149049 FLAP MK-886-binding protein;OTTHUMP00000018204;arachidonate 5-lipoxygenase activating protein;arachidonate 5-lipoxygenase-activating protein APPROVED protein-coding ENSG00000132965 436 04742 601367;603700 REVIEWED 737157 ALPI alkaline phosphatase, intestinal There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is upregulated during small intestinal epithelial cell differentiation. [provided by RefSeq, Jul 2008] 2 2 q37.1 233029077 233032986 + 233320833 233324742 + 1580863;1300048;6480464;6907045 2841341;18307834;18292227;17498884;16344560;15831710;15774940;15715171;15302935;15143152;12919939;12660142;12577238;12477932;12466148;12372831;11352565;9755994;8449034;8240697;7482591;3697102;3687940;3469665;3468508;3458202;3443302;1458595;1321014;17353931;17139249;19407215;20489044;22262031;19786094;19322201;22783049 248 F8WEQ0;P09923 AA190871;ABBA01002020;AC068134;AK313163;AMYH01011571;BC132678;CH471063;DA925041;J03930;M15694;M21499;M31008;NM_001631;Y00512 AAA51703;AAA51704;AAA98617;AAI32679;AAY24089;BAG35981;CAA68564;EAW70997;EAW70998;NP_001622;P09923 Hs.37009 1741471;2218212;5119713 ALPI_4039;GDB:180439;GDB:181233 IAP Kasahara isozyme;OTTHUMP00000164357;alkaline phosphatase 1, intestinal, defined by ssr;alkaline phosphomonoesterase;glycerophosphatase;intestinal alkaline phosphatase;intestinal-type alkaline phosphatase APPROVED protein-coding ENSG00000163295 437 01376 171740 REVIEWED 1346648 ALPPP alkaline phosphatase, pseudogene 11352565 260330 AF307337 14016 1314765 ALOXE3 arachidonate lipoxygenase 3 This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 17 17 p13.1 7939943 7962532 - 7999218 8022234 - 1599073;1580863;6480464;7240710 11773004 19131948;19064572;17436029;17139268;17045234;16344560;15629692;15489334;14702039;12477932;11350124;19423540;19890349;20406964;20438785;20921226;20923767;22622417;21139048;20301593;21963094;23000965;12881489 59344 J3KPH2;Q9BYJ1 ABBA01054896;ABBA01054897;AC129492;AF182218;AJ269499;AJ305020;AJ305021;AJ305022;AJ305023;AJ305024;AJ305025;AK292732;AK296416;AK299742;AK313677;AMYH01008088;BC101938;BC101939;BC103508;BC104724;CH471108;DA183156;DC376381;NG_015807;NM_001165960;NM_021628 AAG16899;AAI01939;AAI01940;AAI03509;AAI04725;BAF85421;BAG36428;BAH12346;BAH13114;CAC12843;CAC34518;EAW90093;EAW90094;NP_001159432;NP_067641;Q9BYJ1 Hs.232770 1797276;2139449 ALOXE3_703.2;humtgkql ARCI3;E-LOX;MGC119694;MGC119695;MGC119696;eLOX3 OTTHUMP00000135319;e-LOX-3;epidermal lipoxygenase;epidermis-type lipoxygenase 3 APPROVED protein-coding ENSG00000179148 13743 06231 242100;606545;607206 REVIEWED 1351787 ALPK1 alpha-kinase 1 This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 4 4 4 q25 110512576 110657856 + 113437948 113583223 + 113218499 113363774 + 1580863;6480464 16344560;15883161;15489334;15221005;14702039;12477932;12168954;10819331;10737800;10021370;20332099;21208416;22623531;21822924;21799462;22484627 80216 B3KUH8;B4E0R2;D6RB29;D6RDN6;Q96QP1 AB040960;AB075877;ABBA01063814;ABBA01063815;AC004049;AK026323;AK026715;AK091872;AK097246;AK131090;AK303489;AK304708;AMYH01014468;AY044164;BC028117;BC060780;BE155590;BX648798;CH471057;DB250317;NM_001102406;NM_001253884;NM_025144 AAK94675;BAA96051;BAB15444;BAC85140;BAD38659;BAG53440;BAG64524;BAG65473;EAX06274;EAX06275;EAX06276;NP_001095876;NP_001240813;NP_079420;Q96QP1 Hs.652825 1643694;1647667;1676059;1689063;1695060;1708878;2170760;5024039 D16S325;D4S807;G34085;RH93680;RH98332;SHGC-23848;SHGC-23924;SHGC-83938 8430410J10Rik;FLJ22670;KIAA1527;LAK OTTHUMP00000163832;OTTHUMP00000219656;alpha-protein kinase 1;chromosome 4 kinase;lymphocyte alpha-kinase;lymphocyte alpha-protein kinase APPROVED protein-coding ENSG00000073331 20917 09554 607347 VALIDATED 1344760 ALPK3 alpha-kinase 3 15 15 15 q25.2 61786084 61843035 + 83160915 83217714 + 85359911 85416713 + 1580863;6480464 14702039;12477932;11418590;10718198;10021370;22005931 57538 Q96L96 AB037751;ABBA01052949;ABBA01052950;AC012291;AC103741;AK022943;AK024829;AK026851;AK300484;AL109725;AL109780;AL365516;AL832372;AL833276;AL833288;AMYH01006872;AY044449;BC016870;BC040192;BC067284;CH471101;NM_020778 AAK95951;BAA92568;BAG62199;EAX01960;NP_065829;Q96L96 Hs.459183 1337137;1653156;1753893;1761463;2142948;2146209;2163347;2219928 A007D25;D15S653;MIDORI__6315;RH41993;SHGC-108121;SHGC-145472;STS-AA019539;WI-18039 FLJ12881;FLJ21176;KIAA1330;MAK;MIDORI OTTHUMP00000192892;alpha-protein kinase 3;muscle alpha-kinase;muscle alpha-protein kinase;myocyte induction differentiation originator protein-coding ENSG00000136383 17574 11365 VALIDATED 1314395 ALPP alkaline phosphatase, placental There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2 while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme, also referred to as the heat stable form, that is expressed primarily in the placenta although it is closely related to the intestinal form of the enzyme as well as to the placental-like form. The coding sequence for this form of alkaline phosphatase is unique in that the 3' untranslated region contains multiple copies of an Alu family repeat. In addition, this gene is polymorphic and three common alleles (type 1, type 2 and type 3) for this form of alkaline phosphatase have been well characterized. [provided by RefSeq, Jul 2008] 2 2 q37 232951592 232955843 + 233243348 233247599 + 1580863;6480464;6907045 21910833;3042787;12493773;18802949;18752324;18416535;16893177;16815919;16431676;16344560;16303743;15946677;15815621;15715171;15489334;14595869;12851398;12477932;12372831;12081485;11937510;11857742;11352565;11124260;6651840;3512548;3461452;3459156;3443302;3422741;3001717;2891112;2153284;1730777;1321014;11278620;12616539;11938765;19450995;19570815;19574883;2133555;19595020;20655896;20693656;20299338;20663553;21516013;17000644;22190034;18775313;20360068;21939286;2017684;21692598;21868091;22333159;15907827 250 P05187 ABBA01002021;AC068134;AF217992;AK075432;AK312931;AMYH01011570;BC009647;BC068501;BC094743;CH471063;DA851165;HC006778;M12551;M13077;M14169;M14170;M19159;M19161;NG_012189;NM_001632 AAA51705;AAA51706;AAA51708;AAA51709;AAA51710;AAC97139;AAH09647;AAH68501;AAH94743;AAY24087;BAG35774;CBH19195;EAW70991;NP_001623;P05187 Hs.284255 1740959;1741473;1742941;1795354;2120652;5119713 A002R47;ALPP_38;GDB:176648;GDB:180439;GDB:181234;GDB:216786 ALP;FLJ61142;PALP;PLAP;PLAP-1 OTTHUMP00000164354;PLAP-1;Regan isozyme;alkaline phosphatase Regan isozyme;alkaline phosphatase, placental (Regan isozyme);alkaline phosphatase, placental type;alkaline phosphomonoesterase;glycerophosphatase;placental alkaline phosphatase 1 APPROVED protein-coding ENSG00000163283 439 171800 REVIEWED 1353075 ALS2CR14 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14 11586298 65068 Q96Q33 AB053316;NM_178231 14441 1343013 ALS3 amyotrophic lateral sclerosis 3 (autosomal dominant) 7240710 11706389 253 1334699;1336976 D18S1109;D18S846 444 1346147 ALPL alkaline phosphatase, liver/bone/kidney There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization; however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to hypophosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] 1 1 p36.12 21708445 21777492 + 21835858 21904905 + 1599076;1580863;1601172;1601177;1601174;1601171;1601173;2315616;2315619;6480464;6907045;7240710 8406453;17010978;16197789;16249437;17403193;16336518;10547581;18288101 14517339;1409720;21713451;22569225;9020858;17023519;9781036;19500388;19453261;19423565;19419944;19303062;19084045;19012630;18940312;18769922;18724009;18665784;18605934;18579124;18523927;18500657;18496130;18469019;18455459;18422967;18158785;18037100;18029348;17922851;17719863;17563703;17516619;17395561;17253930;17242729;17229666;17195227;17043047;16932897;16893177;16681433;16602701;16583221;16344560;15824850;15694177;15660230;15629439;15562030;15489334;15476587;15248185;15230135;15208311;15135428;14756545;14702039;15146197;18572267;19335222;19631305;19641839;19729429;19751416;12920074;12815606;12788869;12638946;12477932;12412800;12397600;12372831;12357339;11999978;11855933;11834095;11810413;11760847;11745997;11528114;11479741;11438998;11073119;10865224;10834525;10737975;10690885;10679946;10508980;10332035;10094560;9844100;9823315;9814472;9747027;9192863;8954059;7833929;7509208;6933471;3954357;3532105;3446011;3410475;3174660;3165380;2928120;2346496;2220817;1458595;1321014;19860546;19751417;19856264;19884277;19888898;19931660;20048161;20231843;20379614;20175736;18328985;20355242;20558539;20345388;20634292;20809279;20924064;21179104;21191615;20828673;21168482;22702738;21402707;23039266;21419245;21558934;22228761;20977932;21289095;18160010;22703652;23328739;22154904;22994584;22300680;22024719;22395920;21886157;22001757;19874193;20301329;22167380;23223140;22211102;21956185;20888271;23124780;22672431;23509830 249 B1ANL0;Q5BKZ5 AB011406;AB012643;AB209814;ABBA01059818;ABBA01059819;ABBA01059820;ABBA01059821;ABBA01059822;AK097413;AK293184;AK295608;AK298085;AK312667;AL359815;AL592309;AMYH01000339;AMYH01000340;BC021289;BC066116;BC090861;BC110909;BC126165;BC136325;CH471134;CN425768;D87874;D87875;D87876;D87877;D87878;D87879;D87880;D87881;D87882;D87883;D87884;D87885;D87886;D87887;D87888;D87889;DA574668;DA625627;DA631560;M24428;M24439;NG_008940;NM_000478;NM_001127501;NM_001177520;X53750;X95994 AAB59378;AAH21289;AAH66116;AAH90861;AAI10910;AAI26166;AAI36326;ADR83041;BAA32129;BAA88367;BAD93051;BAG35549;BAH11467;BAH12123;BAH12722;EAW94974;EAW94975;EAW94976;EAW94977;NP_000469;NP_001120973;NP_001170991;P05186 Hs.75431 1660672;1691342;1741221;1744681;2159435;2174494;5014063 AL009634;D15S1390;GDB:178682;GDB:549217;RH93776;SHGC-74342;SHGC-74343 AP-TNAP;APTNAP;FLJ40094;FLJ93059;HOPS;MGC161443;MGC167935;TNAP;TNSALP OTTHUMP00000002971;OTTHUMP00000002972;alkaline phosphatase liver/bone/kidney isozyme;alkaline phosphatase, tissue-nonspecific isozyme;alkaline phosphomonoesterase;glycerophosphatase;liver/bone/kidney-type alkaline phosphatase;tissue-nonspecific ALP APPROVED protein-coding ENSG00000162551 438 01377 146300;171760;241500;241510 REVIEWED 1347925 ALPPL2 alkaline phosphatase, placental-like 2 There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq, Jul 2008] 2 2 q37 232979796 232983668 + 233271552 233275424 + 1580863;6480464;6907045 2162249;17009260;16412386;16344560;15815621;15489334;12477932;12372831;11937510;11124260;10471145;9823315;7166303;6814793;6651840;3674755;3519002;3512548;3461452;3459156;3443302;3422741;3387245;3042787;3001717;2921344;2834730;2745460;2578098;2297757;2171580;2153284;2009524;1730777;1722150;1581814;20360068;21963094;23467613 251 P10696;Q9UIL6 AB012642;ABBA01002020;AC068134;AI982769;AK293017;AMYH01011570;AMYH01011571;BC014139;CH471063;CS223387;DB194270;J03252;J04948;M19160;NM_031313;X07247;X53279;X55958 AAA51700;AAA51707;AAA98616;AAH14139;AAY24088;BAA88366;BAF85706;CAA30232;CAA37374;CAA39425;CAJ46933;EAW70994;EAW70995;EAW70996;NP_112603;P10696 Hs.333509 1741473;1847238;5119713 D2S2633;GDB:180439;GDB:181234 ALPG;ALPPL;GCAP ALP-1;Nagao isozyme;OTTHUMP00000164356;PLAP-like;alkaline phosphatase Nagao isozyme;alkaline phosphatase, placental-like;germ cell alkaline phosphatase;placental alkaline phosphatase-like;placental-like alkaline phosphatase;testicular and thymus alkaline phosphatase APPROVED protein-coding ENSG00000163286 441 01380 171810 REVIEWED 1349713 ALS5 amyotrophic lateral sclerosis 5 7240710 255 446 1605837 ALS2CL ALS2 C-terminal like 3 3 3 p21.31 46648229 46672945 - 46685683 46710175 - 46710485 46735194 - 6480464 17239822;15388334;14702039;12477932;8889548;16344560;20657180;21906983;23425335 259173 F8WCP1;G3V0I7;G5E9N5;H7C0M4;Q8NAL7 AB107015;ABBA01024712;AC104304;AC134504;AF235535;AK074118;AK092455;AK093844;AK096091;AK097225;AK126505;AK131270;AK131273;AL832132;AL832203;AL833107;AMYH01013131;BC042906;BC061883;BC075825;BC109233;BU685010;CH471055;CR627258;DA242202;DB350037;NM_001190707;NM_147129;NM_182775;NR_033815 AAH42906;AAH61883;AAH75825;AAI09234;AAI56526;AAI72558;AAK13665;BAB84944;BAC03895;BAC04237;BAC86572;BAD18448;BAD18450;BAD51817;CAH10367;EAW64775;EAW64776;EAW64777;EAW64778;EAW64779;EAW64780;NP_001177636;NP_667340;NP_877576;Q60I27 Hs.517937 1681290;1763889;2124449 RH98898;SHGC-147558;STS-N49393 DKFZp686P238;MGC129698;RN49018 ALS2 C-terminal-like protein;OTTHUMP00000158857;OTTHUMP00000209941;OTTHUMP00000209946 protein-coding ENSG00000178038 20605 10643 612402 VALIDATED 1343894 ALS2CR12 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 2 2 2 q33.1 195904962 195973949 - 201861230 201924421 - 202153147 202222101 - 1580863;6480464 17474147;19692168;19773279;20379614;11586298;18649358;16189514;12477932;8889548;17207965;21048031;21983787 130540 C9JTY0;C9JZS0;H7C1T5;Q96Q35 AB053314;ABBA01062539;AC007256;AK124115;AK292283;AMYH01011403;BC031603;BX095441;CA314586;CH471063;NM_001127391;NM_139163 AAH31603;AAY24226;ADQ31789;BAB69022;BAF84972;EAW70267;EAW70268;EAW70269;EAW70270;NP_001120863;NP_631902;Q96Q35 Hs.107944 1700820;5123604 RH104035;RH16289 OTTHUMP00000163724;OTTHUMP00000163725;OTTHUMP00000206582;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein protein-coding ENSG00000155749 14439 12444 VALIDATED 1321241 ALS2 amyotrophic lateral sclerosis 2 (juvenile) The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 2 2 q33.1 202273522 202353983 - 202564986 202645895 - 1599080;1580863;6480464;6907045;7240710 11586297 15247254;16670179;12837691;16049005;11586298;17239822;16085057;15371724;19122027;19023603;18810511;18523452;17955197;17698795;16249884;15579468;15489334;15388334;15342556;14970233;14702039;14676054;14668431;12919135;12866199;12601111;12477932;12168954;12145748;12138710;11687798;10997877;9933298;9889004;8889548;15324660;20379614;23383273;21907703;21890473;20301421;20301623 57679 A8K4R4;B3KPJ0;H0Y696;J3KQ33;J3KQ43;Q96Q42 AB046783;AB053305;AB053306;ABBA01062545;AC007242;AC007279;AF391100;AK023024;AK056413;AK291029;AMYH01011404;BC029174;BC071576;BM560426;BM978733;BP348546;BU623061;CH471063;NG_008775;NM_001135745;NM_020919 AAH29174;AAH71576;AAL14103;AAX93181;AAY15058;BAB13389;BAB14362;BAB69014;BAB69015;BAF83718;BAG51702;EAW70291;EAW70292;EAW70293;NP_001129217;NP_065970;Q96Q42 Hs.471096;Hs.621812 1337671;1678379;1728835;1784008;1784312;2118911;2153186;2218988;5121733 ALS2__4284;D2S2309;G31879;G31881;G54487;RH12092;RH92914;SHGC-143239;SHGC-79895 ALS2CR6;ALSJ;FLJ31851;IAHSP;KIAA1563;MGC87187;PLSJ OTTHUMP00000205832;OTTHUMP00000206119;OTTHUMP00000206122;OTTHUMP00000224839;alsin;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein;amyotrophic lateral sclerosis 2 protein APPROVED protein-coding ENSG00000003393 443 05893 205100;606352;606353;607225 REVIEWED 1345082 ALS2CR11 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 2 2 2 q33.1 196104082 196235806 - 202060393 202192146 - 202352144 202483905 - 6480464 16189514;15815621;15489334;14702039;12477932;11586298;11827452 151254 Q53TS8 AB053313;ABBA01062542;ABBA01062543;ABBA01062544;ABBA01062545;AC007282;AI754862;AK058080;AK097651;AL833429;AMYH01011403;AMYH01011404;BC030659;BE502681;BG701187;BG773299;BX648732;CH471063;DB525255;NM_001168216;NM_001168217;NM_001168221;NM_152525 AAH30659;AAY14693;BAB69021;BAB71654;BAC05132;EAW70277;EAW70278;EAW70279;EAW70280;NP_001161688;NP_001161689;NP_001161693;NP_689738;Q53TS8 Hs.335788 1659200;1728801;2113920;2119307;2127186;2138973;2165543 AB070072;D2S2731;G54441;RH15616;RH17492;RH46527;STS-N48800 DKFZp686H0636;FLJ25351;FLJ40332 OTTHUMP00000163728;OTTHUMP00000206610;OTTHUMP00000206611;OTTHUMP00000206612;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein protein-coding ENSG00000155754 14438 08687 VALIDATED 1314457 ALS2CR16 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16 2 q33.2 203559078 203561222 + 14702039;12477932;11586298 130029 AB053318;AC010900;AK130065;BC132950;BC137214;CR597362;XM_001134431;XM_001134454 AAI32951;AAI37215;BAB69026;BAC85289;Q6ZP36;XP_001134431;XP_001134454 Hs.604686;Hs.648846 MGC164581 protein-coding 14443 10644 1352384 ALX3 ALX homeobox 3 This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 108849991 108860317 - 110404520 110414845 - 110602997 110613322 - 1580863;6480464;7240710 19409524;22589738;16825292;15226305;12477932;11807986;7991607;20634891;22496059;22106187 257 O95076 ABBA01068385;AF008202;AF008203;AL160006;AMYH01000940;BC112007;BC113428;CH471122;NG_012039;NM_006492 AAD01417;AAD01418;AAI12008;AAI13429;EAW56430;NP_006483;O95076 Hs.669953 2123174 SHGC-75288 FND1;MGC138212;MGC141988 OTTHUMP00000013372;aristaless-like homeobox 3;homeobox protein aristaless-like 3;proline-rich transcription factor ALX3 APPROVED protein-coding 449 16190 136760;606014 REVIEWED 1320963 ALX4 ALX homeobox 4 This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009] 11 11 p11.2 44242734 44288292 - 44282278 44331716 - 1580863;6480464;7240710 11017806;11106354;11137991;19336475;17293876;16415175;16319823;15852040;14702039;11696550;11347906;9847249;8644736;16582099;19692347;19783719;8558565;20634891;20211142;20879858;20140221;20301307;20625746;22829454;22496059 60529 Q9H161 AB058691;ABBA01060770;AC103854;AF294629;AF308825;AJ279074;AJ404888;AK092346;AMYH01003522;AMYH01003523;CH471064;NG_015809;NM_021926 AAG23961;AAI66622;AAK38835;BAB47417;CAC15060;CAC15120;EAW68066;NP_068745;Q9H161 Hs.436055 2168987 D11S2375 FND2;FPP;KIAA1788;PFM;PFM1;PFM2 OTTHUMP00000233417;aristaless-like homeobox 4;homeobox protein aristaless-like 4;homeodomain transcription factor ALX4 APPROVED protein-coding ENSG00000052850 450 05661 605420;609597;613451 REVIEWED 1348845 AMCD2B arthrogryposis multiplex congenita, distal, type 2B 7240710 9012416 8044 455 601680 732877 ALX1 ALX homeobox 1 The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008] 12 12 12 q21.31 85337491 85358941 + 84198167 84219693 + 85674036 85695562 + 734689;1580863;6480464;7240710 8673125 16189514;8756334;18029348;15489334;12929931;12477932;9847249;9753625;7690966;7592751;20932315;20451171;20398657;23288509 8092 Q15699 ABBA01053444;ABBA01053445;AC127069;AC131532;AC133794;AJ558236;AMYH01004636;BC010923;CH471054;NG_023202;NM_006982;U31986 AAB08960;AAH10923;CAD90155;EAW97398;NP_008913;Q15699 Hs.41683 2129799;2163608;2219046 CART1__4510;RH68918;STS-N20106 CART1;FND3 ALX homeobox protein 1;CART-1;OTTHUMP00000242207;cartilage paired-class homeoprotein 1 APPROVED protein-coding ENSG00000180318 1494 03316 601527;613456 REVIEWED 1343154 AMCN arthrogryposis multiplex congenita, neurogenic 7240710 9345093 261 456 7204927 AMD1P1 adenosylmethionine decarboxylase 1 pseudogene 1 10 p12.31 20638981 20640029 + 100133024 ABBA01034509;AL353790;AMYH01002164;NG_022164 1340630 D10S595 pseudo 44898 INFERRED 736409 AMBN ameloblastin (enamel matrix protein) This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011] 4 4 q21 71492590 71507594 + 71457975 71473005 + 1580863;6480464 20854943;18781068;18353005;12477932;11330937;11054529;10946765;10634581;9126491;9032019;17331365;19661317;20043904;20831578;21149578;15342556;21761392 258 Q546D7;Q9NP70 ABBA01022930;ABBA01022931;AC134919;AF209780;AF219994;AF263464;AJ537437;AK314918;AMYH01014279;AY009116;AY009117;AY009118;AY009119;AY009120;AY009121;AY009122;AY009123;AY009124;BC106931;BC106932;BP248666;CH471057;NM_016519 AAF37355;AAF73048;AAG27036;AAG35772;AAI06932;AAI06933;BAG37429;CAD60938;EAX05623;EAX05624;NP_057603;Q9NP70 Hs.272396 2110255 AMBN_8200 OTTHUMP00000160362;OTTHUMP00000219136;ameloblastin APPROVED protein-coding ENSG00000178522 452 03160 601259 REVIEWED 735888 AMACR alpha-methylacyl-CoA racemase This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011] 5 5 p13 34023652 34043963 - 33987091 34008220 - 1580863;2315628;2315635;2315632;2315633;2315629;2315630;6480464;6907045;7240710 20003233;15941950;16315020;14707866;18648853;18343427 10770938;19605815;19148275;19068396;18835622;18788852;18785113;18712414;18676680;18665038;18577240;18537123;18500268;18279392;18080842;18032455;17684125;17683075;17680641;17525630;17222253;17067752;16681682;16506014;16491480;16424894;16381901;15941951;15880524;15489336;15330799;15323145;14960364;21457159;14702039;14612535;12810662;12673556;12477932;12438241;12374981;12213712;12131161;11956072;11926890;11076863;11060344;10655068;9307041;8125298;7649182;22782380;21176184;16756494;20636793;19638170;16344560;19064571;19170196;19384190;19459159;19625176;19692168;22078291;22248277;20102405;20503447;20877624;20945498;21195844;20664974;20875727;20178365;22542076;22593005;21441411;20189848;21963094;23000965;22507319 23600 D6RB81;Q9Y3Q1 AA969512;ABBA01066761;AC139783;AF047020;AF158378;AJ130733;AK000912;AK022765;AK222831;AK225749;AK292988;AL545355;AL571115;AMYH01015008;AY330488;AY330489;AY935981;BC009471;BG708726;BI550368;BQ941482;BT007193;CH471118;DA156454;EF560721;FJ498906;FJ498907;FJ498908;NG_016211;NM_001167595;NM_014324;NM_203382 AAD10205;AAF22610;AAH09471;AAP35857;AAQ67234;AAQ94259;AAY16192;ABQ59031;ACL67853;ACL67854;ACL67855;BAD96551;BAF85677;BAG50838;BAG51110;CAB44062;CAL37503;EAX10815;EAX10816;EAX10817;EAX10818;NP_001161067;NP_055139;NP_976316;Q9UHK6 Hs.508343 2116940;2137405;2217006 AMACR_3561;RH45195;WI-16117 AMACRD;CBAS4;RACE;RM 2-methylacyl-CoA racemase;OTTHUMP00000115916;OTTHUMP00000115917;OTTHUMP00000219978;OTTHUMP00000219979;OTTHUMP00000219980;alpha-methylacyl-CoA racemase APPROVED protein-coding ENSG00000242110 451 05134 214950;604489;614307 REVIEWED 1347122 AMDM acromesomelic dysplasia, Maroteaux type 7240710 9634515 264 459 602875 735479 AMBP alpha-1-microglobulin/bikunin precursor This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq, Jul 2008] 9 9 q32-q33 115862228 115880536 - 116822407 116840752 - 1580863;6480464;6904148;6904149;6904147;6904155;6904143;6904156;6904142;6904219;6904218 15710155;14621078;16622176;14592616;17765145;19205372;18046670;15533056;8963945 20602574;11877257;12817471;14516400;11883904;9570066;10097787;14718574;18649735;18226914;17998887;17766242;17633530;17584166;17320766;17146627;17115277;17087727;16916777;16407257;16140784;15653696;15498571;15489334;15452109;15037615;14597629;12477932;11807786;11058759;11036097;10878892;10727951;10631976;10447938;9671439;9566199;9472382;9183005;7682553;7535251;7533162;7528952;7513643;7506257;6198962;6196366;6171497;6164372;3890890;3663330;2482577;2472935;2465147;2430261;2428011;2419908;2413856;2408638;1898736;1714898;1708673;1700638;1696200;1694784;1385302;72071;7519849;1697852;20954860;18448433;19636634;19914646;19879940;16712791;17207965;21067798;19913121;20628086;21332340;22595828;22096585;18624398;21988832;23324582;22684072 259 B7Z8R6;P02760 ABBA01042678;AK290837;AK303795;AK310776;AK310791;AL137850;AMYH01021671;AY544123;BC041593;CB141734;CH471090;CS208015;HB867200;M11562;M88249;NM_001633;X04225;X04494;X53686;X54816;X54817;X54818 AAA59194;AAA59196;AAH41593;AAT11154;ADQ32920;BAF83526;BAH14052;CAA27803;CAA28182;CAA37726;CAA38585;CAA38586;CAA38587;CAJ44933;CBF57586;EAW87404;NP_001624;P02760 Hs.436911 1660986;2190831 AMBP;STS-M88249 A1M;EDC1;HCP;HI30;IATIL;ITI;ITIL;ITILC;UTI OTTHUMP00000021967;alpha 1 microglobulin/bikunin;alpha-1-microglobulin/bikunin;bikunin;complex-forming glycoprotein heterogeneous in charge;growth-inhibiting protein 19;inter-alpha-trypsin inhibitor light chain;protein AMBP;protein HC;trypstatin;uristatin;uronic-acid-rich protein APPROVED protein-coding ENSG00000106927 453 01467 176870 REVIEWED 1350121 AMDP1 adenosylmethionine decarboxylase pseudogene 1 X X X;Y q28 and Yq12 155214191 155215759 - 154710950 154712518 - 59160762 59162330 - 7789170 263 ABBA01028631;AJ271735;AMYH01023345;NG_001073;U02035 1702412 GDB:192496 AMD;AMD2;AMDPX;AMDPY pseudo 460 INFERRED 1603049 AMDHD2 amidohydrolase domain containing 2 16 16 16 p13.3 2785299 2795891 + 2510428 2519733 + 2570363 2580955 + 6480464;6907045 15146197;12477932;10810093;21139048;21906983 51005 H3BSD5;H3BSV9;H3BT49;H3BTE3;H3BTZ6;Q9Y303 AB209351;ABBA01030250;ABBA01030251;AC093525;AF132948;AK296877;AK300747;AMYH01007059;BC018734;CH471112;CN362870;HB969100;HD026510;NM_001145815;NM_015944 AAD27723;AAH18734;BAD92588;BAG59439;BAG62416;CBG19170;CBV32525;EAW85498;EAW85499;EAW85500;NP_001139287;NP_057028;Q9Y303 Hs.740430 1850979;1854241;2166956;5020988;5022578;5022651 D11S2921;D1S1423;D22S958;RH66735;SHGC-61364;STS-AA004808 CGI-14 OTTHUMP00000159090;amidohydrolase domain-containing protein 2;glcNAc 6-P deacetylase;putative N-acetylglucosamine-6-phosphate deacetylase protein-coding ENSG00000162066 24262 13034 VALIDATED 1604349 AMBRA1 autophagy/beclin-1 regulator 1 11 11 11 p11.2 46566035 46760894 - 46374541 46569490 - 46417962 46615619 - 6480464 17589504;17622796;17603510;14702039;12477932;12107410;11214970;21145461;16949367;19615732;20694011;20562859;20921139;21358617;23524951;16196087;21753002;20360068;21987572;12938929;21139048;21890473;21906983;21963094;16344560;19295130;22190034;22505724;22797925;22053931;22441670;23000965 55626 E9PL55;H0YE34;Q9C0C7 AB051523;ABBA01060737;ABBA01060738;ABBA01060739;ABBA01060740;ABBA01060741;ABBA01060742;ABBA01060743;ABBA01060744;ABBA01060745;ABBA01060746;AC024293;AC115097;AC116021;AC127035;AK000301;AK023197;AK057896;AK302808;AK304530;AL137611;AL834190;AMYH01003534;AMYH01003535;AMYH01003536;BC045609;BF589843;CA389399;CH471064;DB070055;DB232750;DQ870924;NM_001267782;NM_001267783;NM_017749 AAH45609;ABI74670;BAA91067;BAB14457;BAB21827;BAG64009;BAG65331;EAW67996;EAW67997;EAW67998;EAW67999;EAW68000;EAW68001;EAW68002;NP_001254711;NP_001254712;NP_060219;Q9C0C7 Hs.654644 1655402;1655404;1666386;1677340;1683882;1705770;1726737;1731535;2110977;2127503;2147119;5022200 A001T07;D11S1252;D11S1271E;G19616;G30960;G62756;L18426;RH28603;RH28670;RH48957;SHGC-78672;WI-14603 DCAF3;FLJ20294;KIAA1736;MGC33725;WDR94 DDB1 and CUL4 associated factor 3;OTTHUMP00000233089;OTTHUMP00000233090;OTTHUMP00000233091;OTTHUMP00000233092;OTTHUMP00000233133;WD repeat domain 94;activating molecule in BECN1-regulated autophagy protein 1;activating molecule in beclin-1-regulated autophagy protein-coding ENSG00000110497 25990 10975 611359 VALIDATED 1322669 ALYREF Aly/REF export factor The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is thought to regulate dimerization, DNA binding, and transcriptional activity of basic region-leucine zipper (bZIP) proteins. [provided by RefSeq, Jul 2008] 17 17 q25.3 77439016 77442758 - 79845711 79849462 - 1580863;6480464 15047853;12226669;21145461;19165146;18562279;18243119;17229714;15998806;15782174;15489334;12944400;12477932;12438613;12176931;11991638;11979277;11707413;11675789;11546873;11118221;11032328;10488337;9952027;9731529;9119228;14667819;15833825;17190602;17196963;17643375;18029348;18974867;19110458;19264631;19369354;19553338;19710015;20015986;20431927;21329510;20981025;22939629;22990118;16196087;20000738;20360068;23242234;22178446;19738201;21282530;21963094;22053931;22623428;23000965;23084401;23151878;23222130;21139048;21890473;21906983;21907836;22145905;17620599;22446626;22586326;19322201;21628590;17609285;19586903;21799930;22505724;22761374;22952844 10189 E9PB61;Q86V81 ABBA01019651;AC137723;AC145207;AF047002;AF086513;AMYH01008722;BC052302;BU624466;CH471099;NM_005782 AAD09608;AAH52302;ACE86440;ACE87115;EAW89699;NP_005773;Q86V81 Hs.534385 1796770;2107829;2136473;2137863;2147142;2147438;2220396 ALY_7964;D17S723;RH44900;RH65274;RH65676;SIRT7_1731;UniSTS:481341 ALY;ALY/REF;BEF;REF;THOC4 Aly/REF export factor;OTTHUMP00000218275;THO complex 4;THO complex subunit 4;ally of AML-1 and LEF-1;bZIP enhancing factor;bZIP-enhancing factor BEF;tho4;transcriptional coactivator Aly/REF APPROVED protein-coding ENSG00000183684 19071 09168 604171 REVIEWED 1351440 AMD1 adenosylmethionine decarboxylase 1 This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Two alternatively spliced transcript variants that encode different proteins have been identified. Pseudogenes of this gene are found on chromosomes 5, 6, 10, X and Y.[provided by RefSeq, Jul 2010] 6 6 q21 111302680 111323606 + 111195987 111216913 + 1578320;1580863;6480464;6907045;7242911;7242912;7242932;7242425;7244193 10430362;10712236;1415709;2292587;23073625;13678416 1917972;2460457;19053272;18548481;17259861;17069747;16344560;15521072;15489334;14718534;14574404;12600205;12477932;11583148;11583147;10574985;10378277;10029540;8353934;7789170;7634128;2687270;1527020;1400498;16941339;19161160;19527050;19661236;20615890;20215859;21134486;22008221;21139048;21890473;21906983;19322201;22496743 262 A6NNH3;B4DZ60;P17707;Q5VXN5 ABBA01026103;ABBA01026104;AJ420527;AJ420567;AK026205;AK125644;AK130474;AK300330;AK302761;AK304351;AK316471;AL357515;AL365206;AL832698;AMYH01016591;AU134914;BC000171;BC041345;BX640599;CH471051;M21154;M88003;M88004;M88005;M88006;NM_001033059;NM_001634;S47803 AAA51716;AAD14903;AAH00171;ABM85036;BAG62078;BAG63972;BAG65194;BAH14842;CAE45705;CAI46113;EAW48307;EAW48308;EAW48309;NP_001028231;NP_001625;P17707 Hs.159118 1687103;1702412;2150560;2157342;2166495;2187495;5016903;5037552;5109281 D1S1425;D6S2429;D8S2279;GDB:192496;RH46508;RH46760;RH46841;RH98425;SGC30337 ADOMETDC;AMD;DKFZp313L1234;FLJ26964;SAMDC OTTHUMP00000017012;OTTHUMP00000017013;OTTHUMP00000017014;S-adenosylmethionine decarboxylase 1;S-adenosylmethionine decarboxylase proenzyme APPROVED protein-coding ENSG00000123505 457 01622 180980 REVIEWED 1606716 AMER1 APC membrane recruitment protein 1 The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010] X X q11.2 63321722 63342349 - 63404997 63425624 - 6480464 17204608;19322201;20128690;19416806;19351817;19137020;19079258;18720004;18460646;18452086;18391980;18311776;18021721;17620295;17510365;16344560;15772651;14702039;20696052;20679664;20956941;11807859;17925383;19760609;19757195;20209645;21304492;21498506;22716240;23000965;23333300;22285752;22215675;21139048;20843316;22800892 139285 Q5JTC6 ABBA01066875;ABBA01066876;ABBA01066877;AK097146;AL355852;AL833759;AMYH01022493;CH471132;DA939151;EF186024;NG_021345;NM_152424 ABM60755;BAC04964;EAX05415;NP_689637;Q5JTC6 Hs.314225 1765253 SHGC-148743 FAM123B;FLJ39827;OSCS;RP11-403E24.2;WTX APC membrane recruitment protein 1;OTTHUMP00000196469;Wilms tumor gene on the X chromosome protein;Wilms tumor on the X;adenomatous polyposis coli membrane recruitment 1;family with sequence similarity 123B;protein FAM123B APPROVED protein-coding ENSG00000184675 26837 06565 300647 REVIEWED 1343944 AMELY amelogenin, Y-linked This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008] Y Y Y p11.2 2473979 2482088 + 6793959 6802068 - 6733959 6742068 - 1580863 18029348;18067069;17588179;17189292;15489334;12815422;12477932;2737677;2037302;2004775;1734713;22669323 266 J3KPK5;Q99218 ABBA01034871;AC013412;AY487421;BC069138;BC074976;BC074977;CH471163;M55419;M86933;NG_008011;NM_001143;X14439 AAA51718;AAA62827;AAH69138;AAH74976;AAH74977;AAR39431;CAA32612;EAW59129;NP_001134;Q99218 Hs.1238 1728909;1744873;1776961;1797068;2128593;2144780;5017959;5022816;5095104;5095106;5095108;5095110;5095112 AMELX;AMELY-1;AMELY-2;AMELY-3;AMELY-4;AMELY-5;AMELY-6-1;AMELY-6-2;G38362;G42692;GDB:574132;SHGC-36989;SHGC-5464 AMGL;AMGY OTTHUMP00000033222;OTTHUMP00000039060;amelogenin (Y chromosome);amelogenin, Y isoform APPROVED protein-coding ENSG00000099721 462 02462 410000 REVIEWED 735379 AMELX amelogenin, X-linked This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] X X p22.31-p22.1 11221454 11228802 + 11311533 11318881 + 1300370;1599092;1300281;6480464;7240710 8406474;15721149;11406633 1734713;19083859;19025992;18781068;18714142;18701806;18434575;18067069;18042988;17688372;17645864;15772651;15489334;15111628;12613657;12477932;11922869;11922868;11877393;11852235;11839357;9041053;16674683;18029348;8254123;8118759;7782077;2737677;2059881;2004775;2509010;1483698;1916828;21514271;19966041;20012165;19913121;20628086;20929860;23525533;21081224;21114591 265 Q99217 ABBA01070900;ABBA01070901;AC002366;AF436849;AMYH01022078;AY040206;BC069118;BC074951;CH471074;M55418;M86932;NG_012040;NG_012494;NM_001142;NM_182680;NM_182681;S67147;X14440 AAA51717;AAA62826;AAB29184;AAC21581;AAH69118;AAH74951;AAK77213;AAL30432;CAA32613;EAW98792;EAW98793;EAW98794;NP_001133;NP_872621;NP_872622;Q99217 Hs.654436 1679774;1702906;1728909;1743711;1744867;1744869;1744873;1744877;1744879;1769050;1797068 AMELX;G42692;GDB:371402;GDB:574117;GDB:574121;GDB:574132;GDB:574144;GDB:574146;GDB:677393;RH46956;RH79902 AI1E;AIH1;ALGN;AMG;AMGL;AMGX OTTHUMP00000022906;OTTHUMP00000022907;amelogenesis imperfecta 1;amelogenin (X chromosome, amelogenesis imperfecta 1);amelogenin (amelogenesis imperfecta 1, X-linked);amelogenin, X isoform APPROVED protein-coding ENSG00000125363 461 02313 300391;301200 REVIEWED 1603900 AMDHD1 amidohydrolase domain containing 1 12 12 12 q23.1 96005967 96028689 + 94861202 94886500 + 96337071 96362370 + 6480464;6907045 15221005;15489334;14702039;12477932;20379614;21906983 144193 B3KVC5;H0YI62;Q96NU7 AB075878;ABBA01053320;AC126174;AK054617;AK122802;AK290828;AL833144;AMYH01004677;BC029146;CH471054;NM_152435 AAH29146;ADZ15926;BAB70775;BAD38660;BAF83517;BAG53737;EAW97552;EAW97553;NP_689648;Q96NU7 Hs.424907 2109511 MGC35366__7713 HMFT1272;MGC35366 OTTHUMP00000243559;amidohydrolase domain-containing protein 1;probable imidazolonepropionase protein-coding ENSG00000139344 28577 14605 VALIDATED 736161 AMH anti-Mullerian hormone Anti-Mullerian hormone is a member of the transforming growth factor-beta gene family which mediates male sexual differentiation. Anti-Mullerian hormone causes the regression of Mullerian ducts which would otherwise differentiate into the uterus and fallopian tubes. Some mutations in the anti-Mullerian hormone result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2008] 19 19 p13.3 2200113 2203072 + 2249113 2252072 + 1601182;1601180;1601181;1601183;1580863;2315637;2315638;2315652;2315639;6480464;6907045;7240710 17109858;1483695;17224152;17217166;19820206;19424576;16533786;19359032 16213847;3754790;14750901;12834017;19539910;19342396;19217095;19064572;19056816;18930199;18854109;18784351;18697861;18593767;18555223;18381582;18328480;18321493;18310677;18291376;18249391;18249372;18230658;18191888;17926161;17636279;17628551;17624337;17603052;17559842;17543956;17488788;17485437;17462637;17425826;17337470;17335955;17088539;16923748;16816803;16740653;16566934;16368745;21457958;21481373;21497340;21514585;21514928;21529798;16159935;16030171;15897891;15550498;15536161;15217995;15070957;15057824;14742691;14715867;14671316;14671196;12571168;12477932;12477536;12462075;12456604;11773638;11760020;11420127;9713320;8895659;8889695;8755541;8596488;8162013;3028714;2467567;2325025;2023927;1750488;21177311;21227943;22429116;18930217;19345350;19361798;19409547;19539911;19730683;19755162;19800062;19940443;20150576;20236105;20734064;20864412;20155783;20309569;20207725;20060112;20064870;20861221;20801125;20719830;20797901;20797903;20843948;21341396;20809108;14695376;21114374;22552379;22673409;22771030;21168856;21227938;21300348;21315333;21315336;21704216;21724534;22901847;22921911;21451424;21486417;22563903;21285453;21719005;22244782;21576079;22674205;22693172;21789206;22442264;22049172;22154766;22188863;23408576;17951406;22038452;21784736;22545082;22420235;22401810;22405597;22355044;23002694;23394782;23433830;23509105;23533225;23533229;23541317;21988832;22910001;23051961;22821432;23419927;22984527;23390860;21882017;23044647 268 K7EJU5;P03971 ABBA01002714;AC005263;AI791949;AMYH01009278;BC033218;BC049194;CH471139;K03474;NG_012190;NM_000479 AAA98805;AAC25614;AAH49194;EAW69397;NP_000470;P03971 Hs.112432 1795218;2131407;5125939 AMH;AMH_42;RH71348 MIF;MIS Mullerian inhibiting factor;Mullerian inhibiting substance;anti-Muellerian hormone;muellerian-inhibiting factor;muellerian-inhibiting substance APPROVED protein-coding ENSG00000104899 464 02979 261550;600957 REVIEWED 1601927 AMER3 APC membrane recruitment protein 3 2 2 2 q21.1 125047974 125060604 - 131229547 131242177 + 131513077 131525707 + 6480464 16344560;14702039;12477932;20843316 205147 C9J4B8;C9JS07;Q8N944 ABBA01019373;AC010984;AC140481;AK095696;AK289525;AK291424;AMYH01011081;BC025667;BC113445;BC113447;BC143806;CH471250;DA102742;DA318919;DA401709;DA500900;DA773233;NM_001105193;NM_001105194;NM_001105195;NM_152698 AAI13446;AAI13448;AAI43807;AAY24355;ADR83424;BAC04612;BAF82214;BAF84113;EAW51273;NP_001098663;NP_001098664;NP_001098665;NP_689911;Q8N944 Hs.369289 1689632;1740101;2120205;2162449 D2S2134;D2S2700;RH91129;WI-12461 FAM123C;FLJ38377 APC membrane recruitment protein 3;OTTHUMP00000162406;OTTHUMP00000204983;OTTHUMP00000204984;family with sequence similarity 123C;hypothetical protein LOC205147;protein FAM123C APPROVED protein-coding ENSG00000178171 26771 08241 VALIDATED 1604720 AMER2 APC membrane recruitment protein 2 13 13 13 q12.13 6806916 6810113 - 24640660 24643857 - 25742660 25745857 - 6480464 15489334;15345747;15057823;14702039;12477932;8889548;22949735;22128170;22898821;20843316 219287 Q8N785;Q8N7J2 ABBA01007899;AK055049;AK098343;AK098796;AL359757;AL832627;AMYH01004978;BC032653;BC041392;BM680074;CH471075;NM_152704;NM_199138 AAH32653;AAH41392;BAB70845;BAC05288;BAC05414;EAX08363;EAX08364;NP_689917;NP_954589;Q8N7J2 Hs.528335 1656057;1694682;1704700;1722453;1738369;1738371;1846574;1847167 D13S504E;D13S505E;G43527;G60154;RH15722;SHGC-79006;STS-H92893;STS-R17761 FAM123A;FLJ25477 APC membrane recruitment protein 2;OTTHUMP00000018143;OTTHUMP00000222591;family with sequence similarity 123A;hypothetical protein LOC219287;protein FAM123A APPROVED protein-coding ENSG00000165566 26360 08067 614659 VALIDATED 1347896 AMLCR2 acute myeloid leukemia chromosome region 2 7240710 9382098 9163 466 601626 6481065 AMMECR1-IT1 AMMECR1 intronic transcript 1 (non-protein coding) 100874352 AL031319 miscrna 41306 733276 AMHR2 anti-Mullerian hormone receptor, type II This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009] 12 12 q13 52103908 52111579 + 53817639 53825318 + 1580863;704409;70669;2315638;2315651;6480464;6907045;7240710 11125071;8119126;19424576;17988723 14750901;7493017;12462075;12834017;19539910;19064572;18697861;18310289;18230658;17636279;17337470;15489334;12477932;12477536;11588147;11549681;11420127;10874041;10589763;8940028;8889695;8872466;8572466;7488027;16344560;19457927;20236105;20362961;20861221;20734064;20864412;15717329;22584735;22962306 269 H3BPI9;Q16671 ABBA01008337;AC068889;AF172932;AJ572328;AK313593;AMYH01004480;AY714878;BC126316;BC136356;CH471054;CR627318;DB020573;NG_015981;NM_001164690;NM_001164691;NM_020547;U29700;X89013;X91156;X91157;X91158;X91159;X91160;X91161;X91162;X91163;X91164;X91165;X91166 AAC50328;AAD48497;AAI26317;AAI36357;AAU21221;ADR83081;CAA61418;CAA62593;EAW96701;NP_001158162;NP_001158163;NP_065434;Q16671 Hs.659889 1747699;1747701;2144914 G64261;G64262;STS-U29700 AMHR;MISR2;MISRII;MRII AMH type II receptor;MIS type II receptor;MRII;Muellerian inhibiting substance type II receptor;Mullerian inhibiting substance type II receptor;OTTHUMP00000242707;OTTHUMP00000242708;OTTHUMP00000242709;anti-Muellerian hormone type II receptor;anti-Muellerian hormone type-2 receptor;anti-mullerian hormone type 2 receptor APPROVED protein-coding ENSG00000135409 465 02978 261550;600956 REVIEWED 1323068 AMFR autocrine motility factor receptor, E3 ubiquitin protein ligase This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012] 16 16 q21 54952865 55016945 - 56395364 56459450 - 1580863;6480464;6907045 11724934;16168377;17681147;1649192;10456327;17043353;17157811;17310145;19560420;19103148;18037895;17872946;17265125;17071500;16979136;16563432;16407162;16186510;16184720;15489334;15331598;15303277;14702039;12962414;12670940;12477932;12067203;11902125;8889549;7626106;18835813;12847084;17353931;18216283;21343306;16275660;19661182;19828134;19835843;19864457;20089858;19549727;19690564;20504226;22990118;22812524;16196087;20126661;21832065;22266900;21139048;21906983;18775313;19815544;21209460;21900206;21965653;21987572;22101235;22118674;22143767;17502376;22328510;20574759;16968747;19322201;21636303;16987818;17311810;18502753;19223579;21914798 267 H3BQM3;H3BRK9;H3BSK3;Q9UKV5;R4GNG2 AA767223;ABBA01025242;ABBA01025243;ABBA01025244;AC009102;AC092140;AF124145;AK023874;AMYH01007689;AMYH01007690;BC017043;BC051032;BC056869;BC069197;BX345849;BX409690;CA748782;CQ834404;L35233;M63175;NM_001144;W60999 AAA36671;AAA79362;AAD56722;AAH17043;AAH56869;AAH69197;CAH05417;NP_001135;Q9UKV5 Hs.295137 1665663;1716435;1855805;2157656;2176791;5100562 D7S2301E;RH121398;RH70754;SHGC-60751;SHGC-60972;SHGC-61049 GP78;RNF45 AMF receptor, isoform 1;AMF receptor, isoform 2;E3 ubiquitin-protein ligase AMFR;OTTHUMP00000164316;RING finger protein 45;autocrine motility factor receptor;autocrine motility factor receptor, isoform 1;autocrine motility factor receptor, isoform 2 APPROVED protein-coding ENSG00000159461 463 09130 603243 REVIEWED 1344740 AMICA1 adhesion molecule, interacts with CXADR antigen 1 11 11 11 q23.3 115222323 115253688 - 117569652 117601019 - 118064442 118095809 - 6480464 15800062;19064666;16344560;15340161;14702039;12975309;12869515;12477932;10737800;20379614 120425 B3KUI3;E9PJJ4;E9PKK2;E9PLF9;E9PNS8;E9PR26;Q496M1;Q86YT9 ABBA01039714;AJ515553;AK057590;AK090409;AK094399;AK097285;AK298722;AK300851;AK301099;AMYH01004067;AP002800;AW804077;AY093686;AY093687;AY138965;AY358362;BC100794;BC100795;BC100796;BC100797;CH471065;DA090367;DC296115;EF444945;JA738745;JA738747;NM_001098526;NM_153206 AAI00795;AAI00796;AAI00797;AAI00798;AAM15730;AAM15731;AAN52117;AAQ88728;ACA05929;ACA05930;BAC03390;BAC04347;BAG53445;BAG60876;BAG62502;BAG62698;CAD56620;CCF77025;CCF77026;EAW67354;EAW67355;NP_001091996;NP_694938;Q86YT9 Hs.16291 1721413;1739599;2152582;2163481;2218214 AMICA__4295;D11S4050E;G59558;RH47232;STS-T86918 AMICA;CREA7-1;CREA7-4;FLJ37080;Gm638;JAML;MGC118814;MGC118815 OTTHUMP00000234548;OTTHUMP00000234549;OTTHUMP00000234550;OTTHUMP00000234551;OTTHUMP00000234707;adhesion molecule AMICA;adhesion molecule interacting with CXADR antigen 1;adhesion molecule that interacts with CXADR antigen 1;dendritic cell-specific protein CREA7-1;dendritic-cell specific protein CREA7-1;dendritic-cell specific protein CREA7-4;junctional adhesion molecule;junctional adhesion molecule-like protein-coding ENSG00000160593 19084 16482 609770 VALIDATED 1606525 AMIGO1 adhesion molecule with Ig-like domain 1 1 1 1 p13.3 108318787 108321677 - 109850969 109853859 - 110049446 110052336 - 6480464 20383146;12629050;16710414;15489334;12477932;10574461;17207965 57463 Q86WK6 AB032989;ABBA01068378;AK295678;AL355145;AMYH01000933;AY237007;BC040879;CH471122;DC317707;NM_020703 AAH40879;AAO48948;ACE86637;ACE87319;ADQ33120;BAA86477;BAG58535;EAW56391;NP_065754;Q86WK6 Hs.726479 1687005;2134085;2163510 RH26161;SHGC-75264;WI-12158 AMIGO;AMIGO-1 OTTHUMP00000013378;OTTHUMP00000013379;alivin-2;amphoterin-induced gene and ORF;amphoterin-induced protein 1 protein-coding ENSG00000181754 20824 11129 VALIDATED 5130582 AMMECR1LP1 AMMECR1-like pseudogene 1 13 13 78073329 78074190 + 97225896 97226757 + 100420921 ABBA01027168;AL356098;AMYH01005311;NG_024945 1703282 SHGC-68276 APPROVED pseudo 39809 INFERRED 736884 AMIGO2 adhesion molecule with Ig-like domain 2 12 12 12 q13.11 46266530 46270780 - 45755757 45759915 - 47469490 47473734 - 6480464 12629050;12843293;15489334;15146197;15107827;14702039;12477932;21078624;21139048;22219177 347902 Q86SJ2 AB079074;AB080610;ABBA01031461;AC004010;AK091761;AK093111;AL833007;AMYH01004426;AY237005;AY454159;BC014103;BC047595;BC095477;CH471111;CN397638;JA738799;NM_001143668;NM_181847 AAH14103;AAH47595;AAH95477;AAO48946;AAR83271;BAC81188;BAC81189;BAG52413;BAG52657;CAH56293;CCF77052;EAW57923;EAW57924;NP_001137140;NP_862830;Q86SJ2 Hs.121520 1696596;1697182;2218216 AMIGO2__4296;RH102080;SHGC-82896 ALI1;AMIGO-2;DEGA AMIGO-2;OTTHUMP00000241691;OTTHUMP00000241692;OTTHUMP00000241693;alivin 1;alivin-1;amphoterin induced gene 2;amphoterin-induced protein 2;differentially expressed in gastric adenocarcinoma;differentially expressed in gastric adenocarcinomas protein-coding ENSG00000139211 24073 16483 VALIDATED 735629 AMIGO3 adhesion molecule with Ig-like domain 3 3 3 3 p21 49718958 49721929 - 49729969 49732127 - 49754267 49757238 - 6480464 12629050;15489334;12975309;12477932;11347906;21297633;20307617 386724 Q494V5;Q86WK7 ABBA01024577;AC099668;AMYH01013162;AY237003;AY358134;BC101363;BC101364;BC101365;BC110418;BQ673901;CH471055;NG_011603;NM_198722 AAI01364;AAI01365;AAI01366;AAI10419;AAO48944;AAQ88501;EAW65011;NP_942015;Q86WK7 Hs.567903 1675610;1684495;1712112;1852317;1856980;2106421;2117546;2153948;2177221 A004P45;A005X28;AMIGO3__4297;G54105;RH15941;RH65603;RH78233;RH78461;RH91732 AMIGO-3;MGC120552 OTTHUMP00000212652;alivin-3;amphoterin induced gene and orf 3;amphoterin-induced gene and ORF 3;amphoterin-induced protein 3 protein-coding ENSG00000176020 24075 16484 VALIDATED 1606942 AMN1 antagonist of mitotic exit network 1 homolog (S. cerevisiae) 12 12 12 p11.21 11646334 11704593 - 31715338 31773251 - 31824071 31882108 - 6480464 14702039;12477932 196394 B7Z7J3;E9PHB0;F5GWF7;F5H1R2;F5H286;F5H3D1;F5H7U5;Q8IY45 ABBA01031738;ABBA01031739;ABBA01031740;ABBA01031741;ABBA01031742;AC023157;AK094708;AK123033;AK302112;AK311214;AK311249;AL833434;AMYH01004367;AMYH01004368;BC037897;BC045831;BC067906;BI464068;CH471116;DC325581;DC394802;NM_001113402;NM_001278411;NM_001278412;NR_004854;NR_103522;NR_103523 AAH37897;AAH45831;AAH67906;BAH13629;EAW88543;EAW88544;NP_001106873;NP_001265340;NP_001265341;Q8IY45 Hs.585084;Hs.740628 1341681;1761059;1767747;2153618;2163568 D12S1621;RH11230;SHGC-145009;SHGC-56513;WI-20441 OTTHUMP00000240376;OTTHUMP00000240377;OTTHUMP00000240379;OTTHUMP00000240381;protein AMN1 homolog protein-coding ENSG00000151743 27281 14115 VALIDATED 1605931 AMMECR1L AMMECR1-like 2 2 2 q21 121930156 121953388 - 128335674 128358904 - 128619204 128643514 - 6480464 15489334;14702039;12477932;22087225;20098747;17207965;21139048;19322201 83607 Q6DCA0 ABBA01040189;ABBA01040190;AC012306;AK024993;AK026685;AK095871;AK304145;AL137415;AMYH01011025;AMYH01011026;BC004208;BC016181;BC067124;BC078174;BC084552;CH471103;NM_001199140;NM_031445 AAH16181;AAH78174;ADQ32032;BAG65038;EAW95346;EAW95347;EAW95348;EAW95349;NP_001186069;NP_113633;Q6DCA0 Hs.546449 1723251;2137072;2151359;2165885;2172906 AFMa204xe5;RH122312;RH70799;RH78129;WI-17503 FLJ38552;MGC4268 AMME chromosomal region gene 1-like;AMMECR1-like protein;OTTHUMP00000162270 APPROVED protein-coding ENSG00000144233 28658 14625 VALIDATED 1347096 AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] X X X q22.3 109917037 110163085 - 109324070 109448036 - 109437414 109683461 - 6480464 15772651;15558565;15489334;14702039;12477932;10049589;9480748;17207965;16344560;21139048;19322201 9949 Q9Y4X0 ABBA01043400;ABBA01043401;ABBA01043402;ABBA01043403;ABBA01043404;ABBA01043405;ABBA01043406;ABBA01043407;ABBA01043408;ABBA01043409;ABBA01043410;ABBA01043411;ABBA01043412;ABBA01043413;ABBA01043414;ABBA01043415;ABBA01043416;ABBA01043417;ABBA01043418;ABBA01043419;ABBA01043420;ABBA01043421;ABBA01043422;ABBA01043423;ABBA01043424;ABBA01043425;AC000113;AJ007014;AJ012221;AK001703;AK023637;AK055321;AK091430;AK314596;AL079334;AL137844;AL359079;AMYH01022840;BC024762;BC037983;BC051895;BC060813;BC065214;BX648797;CH471120;DA203031;NG_016469;NM_001025580;NM_001171689;NM_015365 AAH60813;ADQ32993;BAG37168;BAG50964;BAG52359;CAB45546;CAB58122;CAB58123;EAX02663;NP_001020751;NP_001165160;NP_056180;Q9Y4X0 Hs.656243 1649891;1690496;1690862;1691594;1693282;1789118;1848099;1850366;2115681;2128498;2128856;2129101;2145915;2146027;2146936;2150189;2151116;2152653;2157043;2161165;2177617;5093366 A009N07;AF020160;AF026413;AL008900;AL022442;AL032569;DXS7531;DXS7599;DXS7733;DXS9727;G32676;G42344;G65693;L77264;L77265;RH11202;RH46895;RH77921;RH80450;RH80484;SGC34545;WI-16868 AMMERC1 AMME syndrome candidate gene 1 protein;Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region,;OTTHUMP00000023851;OTTHUMP00000023852;OTTHUMP00000215172 APPROVED protein-coding ENSG00000101935 467 02182 300195 REVIEWED 1318522 AMN amnion associated transmembrane protein The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008] 14 14 14 q32.3 83443115 83451301 + 102458747 102467282 + 103388993 103397179 + 1599101;1580863;6480464;7240710 12590260 18029348;17979745;16730941;16403802;14702039;14576052;12975309;12477932;11279523;11279507;9851841;8889548;8660894;22078000;21750092;22929189 81693 H0YKJ5;H0YMX8;Q9BXJ7 ABBA01048448;ABBA01048449;AF328788;AK055802;AL117209;AMYH01006039;AY358468;BC029948;CB306421;CH471061;NG_008276;NM_030943 AAK28532;AAQ89949;BAG51576;EAW81798;EAW81799;NP_112205;Q9BXJ7 Hs.534494 2217008 AMN_3231 PRO1028;amnionless amnionless homolog;protein amnionless;visceral endoderm-specific type 1 transmembrane protein APPROVED protein-coding ENSG00000166126 14604 09314 261100;300100;605799 REVIEWED 1344662 AMOT angiomotin This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] X X q23 111904761 111970699 - 112018105 112084043 - 6480464 16678097;11257124;16043488;19590046;18824598;16754857;22385262;21145461;18850735;21481793;16640563;15804419;15489334;14702039;12902404;12477932;12406577;12168954;11257132;10470851;12345;21285250;123345;17148452;19565639;19615732;20080965;21224387;20562859;19913121;20628086;21832049;22939629;23564455;16196087;21139048;21890473;23000965;23389031;22053931;22948661 154796 A6NP16;E7ERM3;Q4VCS5 AB028994;ABBA01043121;ABBA01043122;ABBA01043123;ABBA01043124;ABBA01043125;ABBA01043126;ABBA01043127;ABBA01043128;ABBA01043129;ABBA01043130;ABBA01043131;ABBA01043132;AC004827;AF286598;AK024344;AK301573;AMYH01022847;AY987378;BC039408;BC050581;BC094712;BC130294;CH471120;NG_012628;NM_001113490;NM_133265 AAG01851;AAH94712;AAI30295;AAY24451;BAA83023;BAG63066;EAX02626;EAX02627;NP_001106962;NP_573572;Q4VCS5 Hs.528051 1664099;1672127;1694080;2110257;2116866;2150764;5106118 AFMa275zc9;AL035157;AMOT;AMOT_3722;G16015;G31118;WI-13613 KIAA1071 OTTHUMP00000023866;OTTHUMP00000037949;OTTHUMP00000037950;OTTHUMP00000226603;angiomotin;angiomotin p130 isoform;angiomotin p80 isoform APPROVED protein-coding ENSG00000126016 17810 02327 300410 REVIEWED 1313196 AMOTL1 angiomotin like 1 The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. [provided by RefSeq, Jul 2008] 11 11 11 q14.3 91789295 91897678 + 94141156 94249566 + 94501508 94609918 + 1580863;6480464 11076863;16019084;18029348;19590046;18951430;16381901;15489336;15489334;14702039;12477932;12406577;11733531;11230166;17353931;19565639;19615732;19932912;16055720;18850735;21139048;21890473;21906983;21685940;22558212 154810 E7ESY6;F8WDH4;Q8IY63 ABBA01040023;AF453742;AK024350;AK074084;AK093699;AL137281;AL833833;AMYH01003965;AP001152;AP002376;BC014126;BC018449;BC037539;BC040683;BX648729;CH471065;NM_130847 AAH14126;AAH37539;AAL49764;BAB84910;BAC04218;CAD38693;CAH56180;CAL38539;EAW66943;EAW66944;EAW66945;NP_570899;Q8IY63 Hs.503594 1724311;1767125;1848506;1848528;2134397;2167406;2174562 A004Y10;D11S2227E;RH119076;RH16151;RH36117;RH45157;WI-15566 JEAP OTTHUMP00000236978;OTTHUMP00000237751;angiomotin-like protein 1;junction-enriched and associated protein APPROVED protein-coding ENSG00000166025 17811 12451 614657 REVIEWED 737053 AMOTL2 angiomotin like 2 Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 3 3 3 q21-q22 132500465 132519692 - 135556880 135576096 - 134074190 134093406 - 6480464 21145461;22779921;16189514;15489334;14702039;12477932;12406577;10231032;8889549;8125298;21937427;21987572;21832154;21139048;21906983;16678097;16344560;21963094;23564455;23667531 51421 D6RBK2;D6RCL7;D6RF61;D6RFG0;D6RIC7;D6RJA4;Q9Y2J4 AA056579;AB023206;ABBA01059156;AC010207;AF175966;AI214560;AK001343;AK074731;AK091040;AK223598;AK291616;AK299270;AMYH01013513;AW294642;BC011454;BC025981;BU178516;CH471052;DA330301;NM_001278683;NM_001278685;NM_016201 AAD56361;AAH11454;AAH25981;BAA76833;BAD97318;BAF84305;BAG51994;BAG52268;BAH12987;EAW79150;EAW79151;EAW79152;NP_001265612;NP_001265614;NP_057285;Q9Y2J4 Hs.426312;Hs.713601 1680505;1703178;1772593;2106423;2144025;2159147;2160410;2163020 A002Y47;AMOTL2__4299;RH80520;SGC32004;SHGC-32914;SHGC-34138;STS-H93486;WI-20334 LCCP Leman coiled-coil protein;OTTHUMP00000216465;OTTHUMP00000216466;OTTHUMP00000216530;OTTHUMP00000216978;angiomotin-like protein 2 APPROVED protein-coding ENSG00000114019 17812 16485 614658 REVIEWED 732010 AMPD3 adenosine monophosphate deaminase 3 This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] 11 11 p15 10428800 10485702 + 10471868 10529126 + 734568;1580863;1300048;6480464;6907045 8032342 9291127;18493842;18409530;16670071;15807549;12604357;12477932;12213808;11139257;8863347;8611627;8140814;8004104;7881427;3804327;1420359;1400401;20379614;22505724;22145905;15174051;21906983;20686565 272 E9PIR5;E9PKC5;E9PLK6;E9PPG2;H0YDC3;H0YDY8;Q01432 ABBA01061158;ABBA01061159;AC021914;AK289998;AK294444;AK295046;AK299113;AK301507;AK302970;AK308181;AK311279;AK311436;AK311607;AK311711;AK313039;AMYH01003390;BC126118;CH471064;D12775;D31646;DC334250;DC401375;M84720;M84721;M84722;NG_012041;NM_000480;NM_001025389;NM_001025390;NM_001172430;NM_001172431;U29926 AAA58365;AAA58366;AAA58367;AAB60408;AAB60409;AAB60410;AAI26119;ADR83397;BAA02240;BAA06505;BAF82687;BAH11768;BAH11958;BAH12953;BAH13499;BAH13863;EAW68567;EAW68568;EAW68569;NP_000471;NP_001020560;NP_001020561;NP_001165901;NP_001165902;Q01432 Hs.501890 1647079;1738093;1739129;1794558;2110543;2110545;2167694;2171161;2186890;5492102 D11S3721;D11S3937;D6S2084;G15890;MARC_44783-45779:1101739380:7;MARC_44785-45781:1101739916:1;MARC_45777-45778:1101741591:5;PMC31832P1;RH46259;STS-U29926 AMP aminohydrolase;AMP deaminase 3;OTTHUMP00000230743;OTTHUMP00000230746;OTTHUMP00000230747;OTTHUMP00000230748;OTTHUMP00000230749;adenosine monophosphate deaminase (isoform E);adenosine monophosphate deaminase 3;erythrocyte AMP deaminase;erythrocyte type AMP deaminase;erythrocyte-specific AMP deaminase;myoadenylate deaminase APPROVED protein-coding ENSG00000133805 470 00041 102772;612874 REVIEWED 735799 AMPD1 adenosine monophosphate deaminase 1 Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] 1 1 p13 115017245 115039699 - 115215719 115238239 - 1578329;1580863;6480464;6907045;7240710 15793265 644316;19427446;19422651;19353846;19277943;19237423;18855224;18801770;18493842;18409530;18338202;18224333;17687759;17630210;17565237;17530705;17463303;17376785;16996850;16947783;16875916;16767606;16710414;16707139;16671104;16570231;16360962;16021918;16021915;15882662;15677729;15368811;15309698;15239633;15173240;15135700;14702039;12783984;12477932;12213808;12117480;11102975;11028479;10996775;10086964;9880040;9730972;9443500;8355716;21145461;8335021;7201581;6406772;6167680;2502331;2345176;1631143;1400401;1370861;21108053;16344560;19845893;19902562;19948975;20044476;8889549;19913121;20544536;20628086;20952631;17500595;22105616;22017426;22324844 270 H0YCJ1;P23109 AA086476;AB125879;AB158499;AB158500;AB158502;AB160874;AB160875;AB160876;AB160877;AB160878;ABBA01068467;AK097077;AK291349;AK314252;AL096773;AMYH01000967;BC056678;CH471122;DA826076;M37931;M60092;NG_008012;NM_000036;NM_001172626 AAA57281;AAG24258;AAH56678;AAI40300;AAI41601;BAD23974;BAD23975;BAD23977;BAD27426;BAD27427;BAD27428;BAD27429;BAD27430;BAD69565;BAF84038;BAG36918;EAW56606;EAW56607;NP_000027;NP_001166097;P23109 Hs.89570 1660397;1736576;1740781;1746719;5491763 AI553520;AMPD1;CHLC.GGAA25C10;D1S2069E;D1S3310 MAD;MADA AMP deaminase 1;AMPD;OTTHUMP00000013665;OTTHUMP00000013666;adenosine monophosphate deaminase 1;adenosine monophosphate deaminase 1 (isoform M);adenosine monophosphate deaminase-1 (muscle);myoadenylate deaminase;skeletal muscle AMPD APPROVED protein-coding ENSG00000116748 468 00040 102770 REVIEWED 1346106 AMPD2 adenosine monophosphate deaminase 2 The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 1 1 1 p13.3 108431768 108443987 + 109963982 109976200 + 110162435 110174677 + 1580863;6480464;6907045 16344560;8764830;18493842;17081983;16964243;15489334;12745092;12477932;8526848;1429593;1400401;19948975;20125088;22863883;22944692;19953087;21139048;21906983;21044950 271 B2RB47;E9PIJ1;E9PJF6;H0Y360;H0YCL9;H0YE32;H0YF16;Q16688 ABBA01068380;AK025706;AK296394;AK302939;AK308907;AK314494;AL355310;AMYH01000933;AMYH01000934;BC007711;BC030217;BC075844;CH471122;DA444620;DA558264;DC410161;M91029;NM_001257360;NM_001257361;NM_004037;NM_139156;NM_203404;S47833;U16267;U16268;U16269;U16270;U16272 AAA11725;AAA62126;AAA62127;AAB06511;AAC50306;AAC50307;AAC50308;AAC50309;AAD56302;AAD56303;AAH07711;AAH75844;BAG37094;BAG59062;BAG64097;EAW56396;EAW56397;EAW56398;EAW56399;EAW56400;EAW56401;NP_001244289;NP_001244290;NP_004028;NP_631895;NP_981949;Q01433 Hs.82927 1653207;2191703;2191749;2218218;5014053 A006D12;AMPD2__4213;D1S3693;MARC_5351-5352:996690313:1;MARC_6497-6498:996689707:1 AMP deaminase 2;AMPD;OTTHUMP00000013369;OTTHUMP00000013370;OTTHUMP00000013371;OTTHUMP00000233627;OTTHUMP00000233629;OTTHUMP00000233630;OTTHUMP00000233633;OTTHUMP00000233634;adenosine monophosphate deaminase 2 (isoform L) APPROVED protein-coding ENSG00000116337 469 11808 102771 REVIEWED 733884 AMPH amphiphysin This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010] 7 7 p14-p13 38389830 38637545 - 38423297 38671167 - 1300282;6480464 11879655 11709703;14973137;16139795;16275660;17437541;18647389;20946875;21712076;22745667;9259551;9388246;9736607;9182667;18814309;18206907;16733250;16671079;15489334;15345747;14704270;14529717;12853948;12690205;12565847;12477932;12456676;12057195;12023042;11877424;11113134;10931822;10899172;10764771;10748223;10542231;9694653;9603201;9513187;9348539;9315708;9280305;9195986;9148966;8552632;8245793;8076697;7757077;1628617;9341169;12558988;17419807;15834155;16696976;20379614;20214647;19669081;16344560;7757816;19144635;22331304;22360420;22558309;21900206;21044950;22975846;23000965 273 F5H533;H0Y5S4;H0Y7T8;P49418 AACC02000036;ABBA01056929;ABBA01056930;AC007245;AC011309;AC012490;AC096581;AF034996;AF099116;AF099117;AF099119;AF099120;AF498092;AF498093;AF498094;AF498095;AF498096;AF498097;AK291447;AMYH01017188;AMYH01017189;BC034376;CH236951;CH471073;DA125756;F03887;NM_001635;NM_139316;U07616;X81438 AAA21865;AAC02977;AAD16282;AAD16283;AAD16284;AAD16285;AAH34376;AAM44806;AAM44807;AAM44808;AAM44809;AAM44810;AAM44811;AAS07391;AAS07541;AAS07563;ADZ15497;BAF84136;CAA57197;EAL23989;EAL23990;EAW94110;EAW94111;NP_001626;NP_647477;P49418 Hs.592182 1646260;1649604;1649855;1650027;1653164;1706822;1752901;1771088;1771651;1846530;2053486;2107831 1708;AMPH;AMPH_8202;D7S2115E;GDB:1317308;REN97903;RH17983;SHGC-106776;SHGC-52716;SHGC-56040;SHGC-80888;WI-12429 AMPH1 OTTHUMP00000135289;OTTHUMP00000207238;Stiff-Man syndrome with breast cancer 128kDa autoantigen;amphiphysin;amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen);amphiphysin I APPROVED protein-coding ENSG00000078053 471 02687 600418 REVIEWED 1343884 AMT aminomethyltransferase This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 3 3 p21.2-p21.1 49429215 49435016 - 49454211 49460111 - 1599106;1599107;1580863;6480464;6907045;7242560;7240710 8005589;3877504;20645850 9600239;8188235;19367581;19161160;18676680;16450403;16051266;14702039;12477932;11286506;10873393;9621520;7916605;6790577;6111451;1993704;19170196;19416867;19625176;20307617;19913121;20628086;20634891;20877624;20301531;22171071 275 B4DGG9;C9JXJ4;F8WF62;H0Y695;P48728 ABBA01024587;AC104452;AK091738;AK096062;AK290600;AK293481;AK293594;AK294592;AK296177;AK301072;AMYH01013158;BC007546;BC044792;BC094771;CH471055;D13811;D14686;DC387800;GD148179;NG_015986;NM_000481;NM_001164710;NM_001164711;NM_001164712;NR_028435 AAH07546;AAH44792;BAA02967;BAA03512;BAF83289;BAG52409;BAG53206;BAG56972;BAG57060;BAG57780;BAG58912;BAG62678;EAW64984;EAW64986;NP_000472;NP_001158182;NP_001158183;NP_001158184;P48728 Hs.102 1651121;1743669;1743671;1743673;1858464;2178347 A002R20;D3S3344;GDB:366601;GDB:366602;GDB:366605;RH17372 GCE;GCST;GCVT;NKH OTTHUMP00000210791;OTTHUMP00000210792;OTTHUMP00000210793;OTTHUMP00000210824;aminomethyltransferase (glycine cleavage system protein t);aminomethyltransferase, mitochondrial;glycine cleavage system T protein;glycine cleavage system protein T APPROVED protein-coding ENSG00000145020 473 01997 238310;605899 REVIEWED 1604908 AMTN amelotin The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008] 4 4 4 q13.3 68742456 68756611 + 71418887 71433048 + 71384298 71398459 + 6480464 16304441;16787391;15489334;15340161;12975309;12477932;21697133 401138 F1T0L8;Q6UX39 AB593161;ABBA01022928;ABBA01022929;AC134919;AMYH01014279;AY358528;BC121812;BC121817;CH471057;NM_212557 AAI21813;AAI21818;AAQ88892;BAJ84092;EAX05622;NP_997722;Q6UX39 Hs.453069 1339911 D4S2969 MGC148132;MGC148133;UNQ689 OTTHUMP00000160354;OTTHUMP00000219137;RSTI689;amelotin APPROVED protein-coding ENSG00000187689 33188 18270 610912 VALIDATED 1348537 AMY1B amylase, alpha 1B (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008] 1 1 p21 104031564 104040412 - 104230041 104238889 - 6907045 17353931;16203048;16152770;15286789;12477932;6608795;6176528;2788608;2452973;2423416;2081604;21628590 277 P04745;Q5T084;Q5T085 AI627716;AK292341;AK313275;AL513482;BC063129;BC069347;BC069463;BC070302;BC092444;BC132985;BC132987;BC132995;BC132997;BC144452;CB957894;CB958435;CB958705;NM_001008218 AAH63129;AAH69347;AAH69463;AAH70302;AAH92444;AAI32986;AAI32988;AAI32996;AAI32998;AAI44453;AAI72291;BAF85030;NP_001008219;P04745 Hs.599274;Hs.654437;Hs.655232;Hs.662103 5114567 SHGC-32938 AMY1;AMY1A;AMY1C;MGC177995 1,4-alpha-D-glucan glucanohydrolase 1;OTTHUMP00000012691;alpha-amylase 1;amylase, alpha 1b; salivary;amylase, salivary, alpha-1B;glycogenase;salivary alpha-amylase;salivary amylase alpha 1B APPROVED protein-coding ENSG00000174876 475 18510 104701 REVIEWED 1348760 AMYP1 amylase, alpha pseudogene 1 1 1 p21 104057865 104064034 + 104256342 104262511 + 15286789;6608795;2788608;2452973;2081604 281 ABBA01045412;AL513482;NG_029354 AMY2P pseudo 479 INFERRED 1353407 AMY1A amylase, alpha 1A (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 1 1 p21 103999664 104008696 + 104198141 104207173 + 1580863;6480464;6907045 16740002;16203048;16152770;15708646;15489334;15299664;15286789;15194503;15182367;14637141;12782315;12527308;12477932;12414807;12104089;11858714;7507116;6610603;6608795;6196780;6176528;2788608;2458567;2452973;2450054;2442579;2424823;2423416;18951906;17984929;17828263;17593303;17353931;2081604;1710976;9109822;20967220;22391145;21840370;22492122;22100627;21628590;22965187;23144191 276 P04745;Q5T084;Q5T085;Q6NSB3 AC105272;AK292341;AK313275;BC063129;BC069347;BC069463;BC070302;BC092444;BC132985;BC132987;BC132995;BC132997;BC144452;BX487266;CB956272;M18671;M18674;M18715;M18786;M19233;NM_001008221;NM_004038 AAA16183;AAA52279;AAA57345;AAA58368;AAH63129;AAH69347;AAH69463;AAH70302;AAH92444;AAI32986;AAI32988;AAI32996;AAI32998;AAI44453;BAF85030;NP_001008222;NP_004029;P04745 Hs.655232 5114567 SHGC-32938 AMY1;AMY1B;AMY1C 1,4-alpha-D-glucan glucanohydrolase 1;OTTHUMP00000012688;alpha-amylase 1;amylase, alpha 1a; salivary;amylase, salivary, alpha-1A;glycogenase;salivary alpha-amylase;salivary amylase alpha 1A APPROVED protein-coding ENSG00000237763 474 00096 104700 REVIEWED 1345853 AMY1C amylase, alpha 1C (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008] 1 1 p21 104093964 104102833 + 104292441 104301310 + 6480464;6907045 2423416;16203048;17353931;15286789;12477932;6608795;6176528;2788608;2452973;2081604;12414807;21628590 278 P04745 ABBA01028464;AI687773;AK292341;AK313275;AL513482;AMYH01000866;BC063129;BC069347;BC069463;BC070302;BC092444;BC132985;BC132987;BC132995;BC132997;BC144452;CB955582;CB985420;CB985730;CB987307;CD690933;NM_001008219 AAH63129;AAH69347;AAH69463;AAH70302;AAH92444;AAI32986;AAI32988;AAI32996;AAI32998;AAI44453;AAI46451;AAI56581;BAF85030;NP_001008220;P04745 Hs.655232;Hs.662103 5114567 SHGC-32938 AMY1;AMY1A;AMY1B 1,4-alpha-D-glucan glucanohydrolase 1;OTTHUMP00000012722;alpha-amylase 1;amylase, alpha 1c; salivary;amylase, salivary, alpha-1C;glycogenase;salivary alpha-amylase;salivary amylase alpha 1C APPROVED protein-coding ENSG00000187733 476 15911 104702 REVIEWED 3003936 AMZ2P2 archaelysin family metallopeptidase 2 pseudogene 2 6 6 159794719 159795837 - 159146722 159147840 - 100421018 ABBA01021083;AL589931;AMYH01016792;NG_022335;NG_029794 pseudo 38072 INFERRED 732589 AMY2A amylase, alpha 2A (pancreatic) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jul 2008] 1 1 p21 103961522 103969923 + 104159999 104168400 + 1580863;1300048;6480464;6907045 22063648;6336237;2788608;16152770;15648851;15571103;15489334;15304511;15286789;14718574;12477932;11914097;11772019;11376382;10769135;10091666;8528071;8193143;8125298;6610603;6608795;3260028;2458567;2452973;2450054;2423416;2081604;1284286;890964;20428766;19001184;21366335;21827821;21628590;22584580 279 H7BZQ8;P04746 AC105272;AK223463;AMYH01000850;AMYH01000851;AMYH01000852;AMYH01000853;AMYH01000854;AMYH01000855;AMYH01000856;AMYH01000857;AMYH01000858;AMYH01000859;AMYH01000860;AMYH01000861;AMYH01000862;BC007060;BC146997;CS588494;M18669;M18785;M28443;NM_000699;X07056;XM_003960107 AAA51723;AAA51724;AAA52280;AAH07060;AAI46998;ABM83827;ABM87150;BAD97183;CAA30099;CAN87444;NP_000690;P04746;XP_003960156 Hs.654437 AMY2;AMY2B;PA 1,4-alpha-D-glucan glucanohydrolase;OTTHUMP00000012694;alpha-amylase;amylase 1;amylase, alpha 2A; pancreatic;amylase, pancreatic, alpha-2A;found in the pancreas;glycogenase;pancreatic alpha-amylase;pancreatic amylase 2A;pancreatic amylase alpha 2A APPROVED protein-coding ENSG00000243480 477 00094 104650 REVIEWED 2293158 ANAPC10P1 anaphase promoting complex subunit 10 pseudogene 1 1 1 1 p32.3 51005803 51006631 + 52491881 52492655 + 52719239 52720067 + 729198 ABBA01074777;AC105754;AMYH01000619;NG_007660 ANAPC10P APPROVED pseudo 33976 INFERRED 1605859 AMZ1 archaelysin family metallopeptidase 1 7 7 7 p22.3 2688040 2723669 + 2685689 2721595 + 2719163 2755069 + 6480464 15972818;14702039;12690205;12477932;11853319 155185 A4D202;B3KRS0;Q400G9 AACC02000053;AB075830;ABBA01039388;ABBA01039389;AC006028;AJ635357;AK092107;AK289723;AK295842;AK308900;AK311182;AMYH01016977;AMYH01016978;BC146753;CH236953;CH471144;NM_133463 AAI46754;BAB85536;BAF82412;BAG52482;BAG58651;CAG25749;EAL23959;EAW87269;EAW87270;EAW87271;NP_597720;Q400G9 Hs.42221 1767196 STS-H96670 KIAA1950 OTTHUMP00000201186;OTTHUMP00000201187;archaemetzincin-1;archeobacterial metalloproteinase-like protein 1;metalloproteinase-like protein protein-coding ENSG00000174945 22231 17232 615168 PROVISIONAL 1319648 AMY2B amylase, alpha 2B (pancreatic) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jun 2013] 1 1 p21 103898845 103923674 + 104097322 104122151 + 1580863;6480464;6907045 2401405;16152770;15489334;15286789;15252450;14702039;12477932;11408008;11376382;11347906;8268204;6608795;3260028;2788608;2701942;2458567;2452973;2081604;890964;16344560;1429515;1692298;2483397;309725 280 B3KTI1;C9J2Z5;C9JWK7;P19961 ABBA01045412;AC105272;AI436349;AK095605;AK127047;AMYH01000842;BC011179;BC020861;BX456665;CH471097;D90097;DA157436;DB235608;DQ786288;M18670;M24895;NM_020978;X07057 AAA35525;AAA51725;AAH11179;AAH20861;BAA14130;BAG53093;BAG54429;CAA30100;EAW72902;EAW72903;EAW72904;NP_066188;P19961 Hs.484588 1679996;1741403;2116807;2125765;5019379;5114548 G06574;GDB:181084;PMC133998P8;RH66389;SHGC-34189;SHGC-75238 AMY2;AMY3;HXA 1,4-alpha-D-glucan glucanohydrolase 2B;OTTHUMP00000012696;OTTHUMP00000012697;alpha-amylase 2B;alpha-amylase carcinoid;amylase, alpha 2b; pancreatic;carcinoid alpha-amylase;glycogenase APPROVED protein-coding ENSG00000240038 478 00095 104660 REVIEWED 1604205 AMZ2P1 archaelysin family metallopeptidase 2 pseudogene 1 17 17 17 q24.1 59533914 59542949 - 60394606 60400988 - 62962668 62971703 - 6480464 14702039;12477932;15489334;22990118 201283 ABBA01029054;AC037487;AK056627;AK311317;AMYH01008570;BC003669;BC063466;BC073870;BX537538;CH471099;NR_026903 BAB71235;EAW88989;EAW88990;EAW88991;EAW88992 Hs.396447 1666206;1677632;1847881;1854526;1856223 D17S1394E;D17S2023;G19285;RH27229;RH77729 DKFZp686D22101;FLJ32065;MGC90301 APPROVED pseudo ENSG00000214174 26491 08720 VALIDATED 1605392 AMZ2 archaelysin family metallopeptidase 2 17 17 17 q24.2 62815748 62824909 + 63755740 63764900 + 66244145 66253305 + 6480464 15972818;15489334;15146197;14702039;12477932;11042152;17207965;20379614;21139048;21906983 51321 J3KRD0;J3KRS2;J3KS38;J3KSH1;J3KTM1;J3QL25;J3QLK6;J3QQR3;Q86W34 ABBA01028964;AC005332;AJ635358;AK090981;AK126146;AMYH01008588;AW028610;BC035935;BC050709;BC056271;BE543044;BF978559;BM450564;BQ432895;CH471099;CN278872;NM_001033569;NM_001033570;NM_001033571;NM_001033572;NM_001033574;NM_016627 AAH50709;AAH56271;ADQ33093;BAC86462;BAG52256;CAG25750;EAW89047;EAW89048;EAW89049;EAW89050;EAW89051;NP_001028741;NP_001028742;NP_001028743;NP_001028744;NP_001028746;NP_057711;Q86W34 Hs.293560 1666206;1677632 D17S2023;RH27229 archaemetzincin-2;archaemetzincins-2;archeobacterial metalloproteinase-like protein 2 protein-coding ENSG00000196704 28041 14237 615169 VALIDATED 1346286 ANAPC13 anaphase promoting complex subunit 13 This gene encodes a component of the anaphase promoting complex, a large ubiquitin-protein ligase that controls cell cycle progression by regulating the degradation of cell cycle regulators such as B-type cyclins. The encoded protein is evolutionarily conserved and is required for the integrity and ubiquitin ligase activity of the anaphase promoting complex. Pseudogenes and splice variants have been found for this gene; however, the biological validity of some of the splice variants has not been determined. [provided by RefSeq, Nov 2008] 3 3 3 q22.2 132622829 132631147 - 135679240 135687519 - 134196546 134204865 - 737633;6480464;6907045 12477932 18391952;16364912;15489334;15060174;14702039;21043528;20846217;20546612;18485873;11752456;15146197;22939629;20080579;20360068;22318606 25847 A8K3Z6;Q9BS18 ABBA01059155;AC010207;AF086169;AK001285;AK026550;AK290761;AL050051;AMYH01013514;AV682398;BC005398;BG428689;BU627217;BU852706;BX537696;CH471052;CN258858;NM_001242374;NM_001242375;NM_015391 AAH05398;BAF83450;CAB43251;EAW79143;EAW79144;EAW79145;EAW79146;EAW79147;EAW79148;EAW79149;NP_001229303;NP_001229304;NP_056206;Q9BS18 Hs.106909 1848135;1849906 D3S2877E;RH11514 APC13;DKFZp566D193;SWM1 OTTHUMP00000216544;OTTHUMP00000216545;OTTHUMP00000216546;OTTHUMP00000216547;anaphase-promoting complex subunit 13;cyclosome subunit 13;cylosome subunit 13;homolog of yeast Swm1 APPROVED protein-coding ENSG00000129055 24540 08531 614484 REVIEWED 6767436 ANAPC1P1 anaphase promoting complex subunit 1 pseudogene 1 2 p11.2 87088948 87122165 + 100286979 ABBA01075795;ABBA01075796;ABBA01075797;ABBA01075798;ABBA01075799;AC083899;AC092651;AC111200;AC125232;AK310642;AMYH01010508;NR_037931 Hs.731217 1673887;1769926;1775201;2115861 D2S2914;G16417;RH65352;RH78790 pseudo 44150 PROVISIONAL 1318993 ANAPC10 anaphase promoting complex subunit 10 ANAPC10 is a core subunit of the anaphase-promoting complex (APC), or cyclosome, a ubiquitin protein ligase that is essential for progression through the cell cycle. APC initiates sister chromatid separation by ubiquitinating the anaphase inhibitor securin (PTTG1; MIM 604147) and triggers exit from mitosis by ubiquitinating cyclin B (CCNB1; MIM 123836), the activating subunit of cyclin-dependent kinase-1 (CDK1; MIM 116940) (summary by Wendt et al., 2001 [PubMed 11524682]).[supplied by OMIM, Feb 2011] 4 4 q31 146135760 146238818 - 145915727 146019693 - 6480464;6907045 10318877;11285280;14593737;15029244;10793135;11535616;11742988;12070128;10548110;11340163;15489334;15144564;12477932;11524682;11230166;10922056;10827173;10498862;12956947;21043528;11739784;16364912;18485873;18997788;14657031;21186364;21336306;22939629;22990118;23007861;20080579;22792066;17540176;20360068;22193957;21139048;21890473;21906983;15146197;15489335;22318606;22505724 10393 D6R9Q5;D6RA92;D6RB36;D6RD74;Q9UM13 AB012109;ABBA01070020;ABBA01070021;ABBA01070022;ABBA01070023;ABBA01070024;AC096757;AC097649;AF132794;AL080090;AMYH01014591;AMYH01014592;AV757106;BC005217;BF693880;BG494966;BG530912;BI488888;BU175327;BU567906;CH471056;CN305215;CV023091;DQ304649;NM_001256706;NM_001256707;NM_001256708;NM_001256709;NM_001256710;NM_001256711;NM_001256712;NM_014885;NR_046345 AAD30527;AAH05217;AAY40941;ABB96248;ACE86568;ACE87250;ADZ15958;BAA86953;CAB45705;EAX05050;EAX05051;EAX05052;EAX05053;NP_001243635;NP_001243636;NP_001243637;NP_001243638;NP_001243639;NP_001243640;NP_001243641;NP_055700;Q9UM13 Hs.480876 1650584;1683858;1768133;2152828;2162717 D4S1291;D4S307;G34382;RH93603;SHGC-67673 APC10;DKFZp564L0562;DOC1 OTTHUMP00000220297;OTTHUMP00000220298;OTTHUMP00000220299;OTTHUMP00000220300;OTTHUMP00000220301;OTTHUMP00000220303;OTTHUMP00000220304;anaphase-promoting complex subunit 10;cyclosome subunit 10 APPROVED protein-coding 24077 16488 613745 VALIDATED 1353292 ANAPC1 anaphase promoting complex subunit 1 This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011] 2 2 q12.1 112243109 112358212 - 112525214 112641741 - 1580863;6480464;6907045 21043528;18622497;18535175;16565220;15489334;15302935;15252450;14702039;14657031;12477932;11179667;11179223;10922056;10500174;10318877;18997788;12956947;11076961;11285280;14593737;15029244;10793135;11535616;11742988;12070128;10548110;11340163;17827148;21402913;11438673;16364912;17643375;18485873;19826416;20064487;22377092;23007861;23160376;23213260;23314748;21454540;22939629;22990118;23022380;21633387;20360068;20080579;17942546;19535905;19826003;21987572;22193957;21139048;21549307;21890473;21906983;21963094;22586326;22014574;22504420;23263983;23251661;16921029;22190034;22505724 64682 F8WAS1;H0Y564;Q9H1A4 ABBA01005792;ABBA01005793;ABBA01221145;ABBA01232815;AC093166;AC104651;AI421643;AJ278357;AK023807;AK094527;AL832013;AMYH01010946;BC005089;BC104902;BC104904;BX282336;CH471245;DQ786300;NM_022662 AAH05089;AAI04903;AAI04905;BAB14687;CAC19484;EAW52095;NP_073153;Q9H1A4 Hs.436527 1673887;1769926;2115861;5022651 D11S2921;D2S2914;G16417;RH65352 APC1;MCPR;TSG24 OTTHUMP00000161951;OTTHUMP00000203537;anaphase-promoting complex 1 (meiotic checkpoint regulator);anaphase-promoting complex subunit 1;cyclosome subunit 1;mitotic checkpoint regulator;testis-specific gene 24 protein APPROVED protein-coding ENSG00000153107 19988 09769 608473 VALIDATED 1345646 ANAPC16 anaphase promoting complex subunit 16 10 10 10 q22.1 67259517 67279309 + 73645812 73665624 + 73975758 73995618 + 737633;6480464 12477932 15489334;15164054;14702039;18851979;21043528;16341674;19232044;20360068;15851553;16344560;18029348;20080579;22193957;21906983;19322201;22990118 119504 C5H3H2;Q96DE5 ABBA01020358;ABBA01020359;ABBA01020360;AI038150;AK023981;AL607035;AMYH01002821;AMYH01002822;AMYH01002823;BC009530;BF975718;BM768948;CB984695;CD511334;CD724246;CH471083;DA310509;DA739927;EU552924;NM_001242546;NM_001242547;NM_001242548;NM_173473;NR_038391;NR_038392 AAH09530;ACD68153;EAW54448;EAW54449;EAW54450;EAW54451;NP_001229475;NP_001229476;NP_001229477;NP_775744;Q96DE5 Hs.426296 2165308;2165310;5015861;5020740;5022578;5037552;5109362;7185938 A006H35;D10S16;D17S1239;D1S1423;D8S2279;G20818;L17809 APC16;C10orf104;CENP-27;FLJ33728;MSAG;bA570G20.3 OTTHUMP00000019780;anaphase-promoting complex subunit 16;centromere protein 27;cyclosome subunit 16;metabolic syndrome-associated protein APPROVED protein-coding ENSG00000166295 26976 12554 613427 VALIDATED 1353092 ANCR Angelman syndrome chromosome region 7240710 282 482 105830 1601769 ANAPC15 anaphase promoting complex subunit 15 11 11 11 q13.4 69122580 69125769 - 71498281 71501470 - 71820633 71823822 - 6480464 11256614;15489334;12477932;11230166;11042152;8125298;15146197;17207965;23007861;23160376;21926987 25906 F5GWM6;F5GXB9;F5H2T3;F5H3R3;F5H6E4;F8WDQ6;G5EA39;P60006 ABBA01017542;AF077206;AK222622;AK311146;AL080071;AMYH01003791;AP000812;BC005156;BC005393;BE616852;BG752082;BG764016;BU532056;BU856100;BU930156;CD049337;CH471076;CN306434;HY080534;NG_021423;NM_001278485;NM_001278486;NM_001278487;NM_001278488;NM_001278489;NM_001278490;NM_001278491;NM_001278492;NM_001278493;NM_001278494;NM_014042 AAD27001;AAH05156;AAH05393;ACE86562;ACE87244;ADQ32392;CAB45698;EAW74838;EAW74839;EAW74840;EAW74841;EAW74842;NP_001265414;NP_001265415;NP_001265416;NP_001265417;NP_001265418;NP_001265419;NP_001265420;NP_001265421;NP_001265422;NP_001265423;NP_054761;P60006 Hs.38044 1683379;1847699 RH44914;RH92229 APC15;C11orf51;DKFZp564M082;HSPC020 OTTHUMP00000237102;OTTHUMP00000237103;OTTHUMP00000237104;OTTHUMP00000237105;OTTHUMP00000237106;OTTHUMP00000237107;OTTHUMP00000237108;OTTHUMP00000237109;OTTHUMP00000237110;anaphase-promoting complex subunit 15;hypothetical protein LOC25906;uncharacterized protein C11orf51 APPROVED protein-coding ENSG00000110200 24531 13172 614717 VALIDATED 1343647 ANAPC11 anaphase promoting complex subunit 11 17 17 q25.3 77442895 77451655 + 79849599 79858363 + 1580863;6480464;6907045 11739784;11285280;14593737;15029244;10793135;11535616;11742988;12070128;10548110;11340163;15489334;15256223;14702039;12477932;11573242;11042152;10922056;12956947;16712791;19690564;20826619;10230407;16364912;18485873;18997788;19826416;16341674;14657031;20080579;21926987;19475398;20360068;23007861;22493164;23007976;23078409;16455800;16921029;17227951;17360335;19826003;20733055;21874044;21937719;22529100;22580460 51529 J3KSK3;J3QL35;J3QS46;Q9NYG5 ABBA01019648;ABBA01019649;ABBA01019650;ABBA01019651;ABBA01019652;AC145207;AF151048;AF247565;AF247789;AK091360;AK307214;AK308091;AMYH01008722;BC000607;BC066308;BC095454;BC104641;BC171892;BC171898;BC171899;BC171900;BF435042;BF512771;BG707824;BM845909;BU554167;BU556841;CB106395;CH471099;NM_001002244;NM_001002245;NM_001002246;NM_001002247;NM_001002248;NM_001002249;NM_016476 AAF36134;AAF65816;AAH00607;AAH66308;AAH95454;AAI04642;AAI71892;AAI71898;AAI71899;AAI71900;AAL95694;EAW89700;EAW89701;EAW89702;EAW89703;NP_001002244;NP_001002245;NP_001002246;NP_001002247;NP_001002248;NP_001002249;NP_057560;Q9NYG5 Hs.534456 1734536;1775296;2107829;2115369;2147438 A006A06;ALY_7964;D17S1466E;RH16023;RH65274 APC11;Apc11p;HSPC214;MGC882 APC11 anaphase promoting complex subunit 11 homolog;anaphase promoting complex subunit 11 (yeast APC11 homolog);anaphase-promoting complex subunit 11;cyclosome subunit 11;hepatocellular carcinoma-associated RING finger protein protein-coding ENSG00000141552 14452 12452 614534 VALIDATED 1313636 ANAPC2 anaphase promoting complex subunit 2 A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The product of this gene is a component of the complex and shares sequence similarity with a recently identified family of proteins called cullins, which may also be involved in ubiquitin-mediated degradation. [provided by RefSeq, Jul 2008] 9 9 q34.3 139189057 139202878 - 140069236 140083057 - 1580863;6480464;6907045 9469815;11285280;14593737;15029244;10793135;11535616;11742988;12070128;10548110;11340163;16964243;16364912;15489334;15231748;15164053;14657031;14508008;12477932;11739784;11691822;10922056;10718198;10500174;10318877;12956947;16287863;16319895;10230407;11076961;17443186;18485873;9637688;9811605;22990118;21439932;21768287;22939629;20080579;20360068;21900206;21903591;21043528;21145461;22280307;21987572;22193957;21139048;21186356;21549307;21890473;21906983;17187060;17403670;21135578;21937719;11438673;16648845;16921029;22190034;22505724 29882 Q9UJX6 AB037827;ABBA01022747;AF191337;AK294601;AK296204;AL929554;AMYH01021893;BC001579;BC009487;BC032503;BC033579;BM925063;BU526961;CH471090;NM_013366 AAF05751;AAH01579;AAH09487;AAH32503;ABM81778;ABM84933;BAA92644;BAG57788;BAG58931;EAW88361;NP_037498;Q9UJX6 Hs.533262 1680713;1851107;2109889 RH75093;RH78795;SSNA1_7924 APC2;RP11-350O14.5 OTTHUMP00000022692;anaphase-promoting complex subunit 2;cyclosome subunit 2 APPROVED protein-coding ENSG00000176248 19989 07367 606946 REVIEWED 1315264 ANAPC4 anaphase promoting complex subunit 4 A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. [provided by RefSeq, Jul 2008] 4 4 p15.2 24987946 25029218 + 25378848 25420120 + 1580863;6480464;6907045 6180011;9469815;11285280;14593737;15029244;10793135;11535616;11742988;12070128;10548110;11340163;14702039;14684825;14657031;12477932;18471975;21043528;10922056;10500174;10318877;8889548;12956947;11076961;16364912;17554300;18485873;19826416;20686030;20966902;22939629;22990118;23007861;23160376;20080579;21926987;20360068;22193957;19471022;21139048;21693764;21890473;22145905;19535905;20733055;21335556;21336306;19531213;16921029 29945 D6RAP6;D6RFM7;E9PCR4;Q9UJX5 ABBA01032696;ABBA01032697;AC108218;AC110812;AF191338;AK001881;AK023562;AK023597;AK292336;AL353932;AMYH01014068;AY429517;AY429518;BC059383;BI546948;CA312572;CH471069;NM_013367 AAF05752;AAH59383;BAF85025;BAG51209;CAB89245;EAW92839;EAW92840;NP_037499;Q9UJX5 Hs.152173 1664313;1664315;1667031;1689462;1785078;2139198;2184419;5094864 ANAPC4;D4S2517E;D4S2679;RH92873;SHGC-154840;SHGC-24100;SHGC-50273;SHGC-59815 APC4 OTTHUMP00000123382;OTTHUMP00000218479;anaphase-promoting complex subunit 4;cyclosome subunit 4 APPROVED protein-coding ENSG00000053900 19990 09505 606947 REVIEWED 1314740 ANGEL1 angel homolog 1 (Drosophila) 14 14 14 q24.3 57292199 57317888 - 76323339 76348983 - 77253586 77279283 - 6480464 18029348;12508121;12477932;11943475;9872452;21906983 23357 G3V414;G3V437;G3V5C4;Q9UNK9 AB018302;ABBA01030670;ABBA01030671;AF111169;AK025609;AK301069;AK301589;AL137268;AMYH01005868;AMYH01005869;BC028714;CH471061;DB452865;NM_015305 AAD44362;AAH28714;BAA34479;BAG62676;BAG63079;CAB70667;EAW81261;EAW81262;EAW81263;NP_056120;Q9UNK9 Hs.497448 1666535;1673697;1740123;2174436 D14S905;G35980;RH44775;WI-14582 FLJ60172;KIAA0759 OTTHUMP00000246196;protein angel homolog 1 protein-coding ENSG00000013523 19961 13815 VALIDATED 1349500 ANG angiogenin, ribonuclease, RNase A family, 5 The protein encoded by this gene is an exceedingly potent mediator of new blood vessel formation. It hydrolyzes cellular tRNAs resulting in decreased protein synthesis and is similar to pancreatic ribonuclease. Alternative splicing results in two transcript variants encoding the same protein. This gene and the gene that encodes ribonuclease, RNase A family, 4 share promoters and 5' exons. Each gene splices to a unique downstream exon that contains its complete coding region. [provided by RefSeq, Jul 2008] 14 14 q11.1-q11.2 20222176 20232185 + 21152336 21162345 + 1580863;2325699;2325702;2325704;2325712;2325717;2325697;2325700;2325708;2317659;2325707;2325714;2317660;2325716;2325719;2325706;2325705;2325710;6480464;6892712;6892721;6892714;6892716;6892705;6892708;6892719;6892723;6892707;6892713;6892724;6892710;6892722;6892709;6771318;2307061;6892711;6892718;7240710 18808740;15776477;15329320;9748135;19666176;19276260;15912517;11299848;9119882;11948474;9539780;9166545;8665497;18462761;12705339;14748845;10421268;20629092;12653852;17823536;17462671;22449478;21916917;16478840;19178538;22190368;19177252;15236995;22748184;21848603;22331014;18978347;21091473;16501576 22438557;11782452;9245697;10103013;2457905;9122172;2424496;2730651;2646638;17125737;2479414;16567967;15166501;11438326;12770725;11984825;9707554;15735021;10999833;15979542;16490744;3470787;3663649;16461950;19363631;19332886;19253715;19160530;19158252;18955785;18936943;18852347;18636464;18087731;17900154;17886298;17703939;17113198;16937522;16322296;15737636;15558023;15557516;15489334;15182336;15128420;15067362;15064314;14756559;14671622;14593238;12842050;12515546;12477932;12209593;12168899;11919285;11851402;11847008;11752456;11751393;11468363;11374889;10648935;9918722;9461294;9311977;8159679;8127865;7945327;3619929;2866795;2866794;2742853;2440105;2276743;1978563;10649442;7679494;1400510;16169070;22372545;22266868;17991437;19262607;19287993;19423182;19625371;19631914;20045391;20452482;20472325;8448182;20174961;16712791;20105109;20955379;17207965;20577002;20673868;20952631;21085671;21103661;20838751;10413501;21209106;20923443;21364907;21528671;21154263;22526325;21375772;21778318;22148849;20137109;21539846;20484129;21621297;21439815;21711968;22292843;21800332;23229115;23409128;22194915;22292798;22384259;22633874;21808991;20301623;22940420;21988832;22694909;21919032 283 P03950 ABBA01061234;AF449647;AF449648;AF449649;AF449650;AF449651;AK313989;AL163636;AMYH01005590;AV646929;BC020704;BC054880;BC062698;BQ773604;CB157060;CB963791;CH471078;CR407633;FJ236304;M11567;NG_008717;NG_033053;NM_001097577;NM_001145 AAA51678;AAH20704;AAH54880;AAH62698;AAL67710;AAL67711;AAL67712;AAL67713;AAL67714;ACI45236;ADQ32136;BAG36701;CAG28561;EAW66450;EAW66451;NP_001091046;NP_001136;P03950 Hs.283749 1668881;1741145;2185370 D14S1338;GDB:178381;RH1630 ALS9;HEL168;MGC22466;MGC71966;RNASE4;RNASE5 OTTHUMP00000164019;OTTHUMP00000164020;OTTHUMP00000164021;RNase 5;angiogenin;epididymis luminal protein 168;ribonuclease 5 APPROVED protein-coding ENSG00000214274 483 00105 105850;611895 REVIEWED 1601837 ANGEL2 angel homolog 2 (Drosophila) 1 1 1 q32.3 186387057 186410696 - 211232147 211255791 - 213165524 213189168 - 6480464 14702039;12477932;11943475;21139048;21906983;19322201 90806 B7Z5T0;F5H476;Q5VTE6;Q96AL9 ABBA01048159;ABBA01048160;AF510741;AI658922;AK022855;AK093947;AK294479;AK295116;AK299208;AK299365;AK310946;AK311276;AL079275;AL592449;AMYH01001713;AY468376;BC016966;BC047469;BX103687;CH471100;NM_144567 AAH16966;AAH47469;AAM44053;BAH11783;BAH11980;BAH12969;BAH13016;EAW93365;EAW93366;EAW93367;EAW93368;EAW93369;EAW93370;NP_653168;Q5VTE6 Hs.157078 1644382;1679275;1700014;1734230;1769377;2179428;5015861;5015879;5020948;5024761;7185938 D10S16;D1S1747;G35510;GDB:314949;RH103619;RH36905;RH94312;SHGC-76304;SHGC-76315;WI-14782 FLJ12793;KIAA0759L OTTHUMP00000035020;OTTHUMP00000035021;protein angel homolog 2 protein-coding ENSG00000174606 30534 14279 VALIDATED 1344930 ANAPC7 anaphase promoting complex subunit 7 This gene encodes a tetratricopeptide repeat containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 12 12 q24.11 109296332 109325815 - 110810705 110841535 - 1580863;6480464;6907045 11285280;14593737;15029244;10793135;11535616;11742988;12070128;10548110;16319895;15743504;15489334;14702039;14657031;12956947;12477932;10922056;10500174;10477750;10318877;9469815;9110174;8619474;18162579;18997788;11076961;11340163;19091741;18789487;16861917;16344560;18685082;21043528;21145461;21596315;16364912;18485873;19615732;19826416;19454010;22990118;23022380;22939629;23078409;23007861;23160376;23314748;23383273;16196087;20080579;21926987;17942546;19826003;22792066;20360068;21987572;22193957;19471022;21139048;21549307;21693764;21890473;21906983;19531213;16921029;22053931;22505724;22797925 51434 F8VQY8;F8VVT8;F8VVU6;F8VZ62;H0YIW2;H0YIX7;Q4KMX6;Q69YV3;Q9UJX3 ABBA01005098;ABBA01005099;ABBA01005100;ABBA01005101;ABBA01005102;ABBA01005103;AC144548;AF191340;AK021809;AL137586;AL157481;AMYH01004740;AMYH01004741;AY007104;BC002941;BC009498;BC017316;BC040130;BC098264;BC098295;BC098362;BC099732;BC111798;BC141848;BC148236;BG105587;CH471054;DB003237;NM_001137664;NM_016238 AAF05754;AAH02941;AAH09498;AAH17316;AAH98264;AAH98295;AAH98362;AAH99732;AAI11799;AAI41849;AAI48237;BAG51054;CAB70828;CAH10690;EAW97909;EAW97910;EAW97911;NP_001131136;NP_057322;Q9UJX3 Hs.719935 1673197;1740021;2122754;2133430;2152078;5017433 D12S1570;D12S2011;NIB1273;RH78491;STS-T76997;WI-12246 APC7 OTTHUMP00000211290;OTTHUMP00000211291;anaphase-promoting complex subunit 7;cyclosome subunit 7 APPROVED protein-coding ENSG00000196510 17380 16233 606949 REVIEWED 1314558 ANAPC5 anaphase promoting complex subunit 5 This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [provided by RefSeq, Nov 2008] 12 12 q24.31 120230543 120274585 - 121746048 121792012 - 6480464;6907045 9469815;11285280;14593737;15029244;10793135;11535616;11742988;12070128;10548110;11340163;16861917;16319895;21043528;21145461;21596315;22580462;15761153;15489334;15302935;15082755;14702039;14657031;12956947;12477932;11401522;10922056;10500174;10318877;7566098;16169070;17827148;11076961;16364912;18162579;18485873;19826416;20686030;22990118;23022380;22939629;20080579;22792066;20360068;21900206;21987572;22193957;21139048;21549307;21890473;21906983;19531213;22318606;23007861;23160376;16921029;22053931;22505724 51433 B4DFK4;F5GY68;F5GZ05;F5H0F9;F5H0N1;F5H3S5;H0YFB5;Q9UJX4 AA349724;ABBA01020157;ABBA01020158;ABBA01020159;ABBA01020160;AC048337;AC069209;AF191339;AI879332;AK025614;AK054779;AK294139;AK301197;AK315451;AMYH01004811;BC001081;BC001950;BC003095;BC006301;BC034243;BC045686;BX381618;BX537687;CH471054;NM_001137559;NM_016237 AAF05753;AAH01081;AAH01950;AAH06301;AAH34243;AAH45686;BAG51422;BAG57465;BAH13429;CAD97812;EAW98259;EAW98260;EAW98261;NP_001131031;NP_057321;Q9UJX4 Hs.7101 1653567;1707940;1746323;1746447;1848161;1848163;5125284 A001Z45;G19833;G64569;G64617;HSC2OG072;SHGC-34758;SHGC-82223 APC5 OTTHUMP00000240249;OTTHUMP00000240250;OTTHUMP00000240251;anaphase-promoting complex subunit 5;cyclosome subunit 5 APPROVED protein-coding ENSG00000089053 15713 10453 606948 REVIEWED 733136 ANGPT1 angiopoietin 1 Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme and inhibits endothelial permeability. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010] 8 8 q23.1 108330886 108579430 - 108261710 108510254 - 704373;1580863;1578337;704403;1578345;1578336;1626164;1643339;1643335;1643336;1601496;1643338;1643340;1626162;1626163;1626167;1626168;1626157;2313818;2293864;2293863;2293883;2313817;2293852;2316067;2316068;2316069;2316041;6480464;6907045 11822892;15714275;11549276;16389943;14759414;16626513;17637706;17505508;11326698;12768384;17935226;10780674;17356562;17294737;15459484;15364619;16942942;12000720;12138242;15517881;15754349;15047628;17295646;18344375;18285514;18073453;19885826 17466926;8980223;10766762;14665640;14749497;19487284;19351722;19301945;19300530;19223473;19148554;19127216;19082594;19082480;19028450;19010534;18996102;18991494;18823985;18807212;18675456;18664247;18425120;18382887;18330951;18326231;18310225;18199826;18092380;18080866;18035072;17943167;17803352;17785951;17728252;17724803;17603084;17562701;17558601;17525262;20471887;17341311;17322632;17168735;17039426;16956819;16917117;16830384;16803467;16723371;16690881;16645159;16614513;16547766;16354591;16049136;16020388;16000309;15892598;15823283;15781448;15769741;15746084;15694363;15692086;15562207;15498854;15453096;15381091;15284220;15242771;15213103;15198927;15161644;15094228;15019820;15001532;14991531;14715662;14672554;14597243;14561809;12958167;12890486;12816861;12810673;12717391;12649156;12612904;12477932;12427764;12402160;12243755;12239588;12213874;12168954;11967990;11891175;11870550;11856872;11827452;11776343;11729102;11165944;10944458;10854239;10706866;10514510;10343124;10051567;9723709;9660821;9545648;9525952;9204896;8980224;7642106;7584028;7584026;15542434;20629092;21948244;22449617;22205728;22583143;20554518;10218485;12958144;15851516;18269030;19297368;19322669;19339077;19424712;19476937;19478794;19543148;19615361;19674970;19689429;19733541;19815705;19875484;19916173;19919521;19922791;19954476;20036815;20056911;20098680;20099495;20346360;20378606;9560344;14978158;20072144;20602615;20208992;20185425;20696814;21168819;21710361;16229183;21042788;19567053;21273558;19086654;21212269;21400522;22949515;23504320;23099117;23592718;21179479;22391155;22642477;21778249;22901561;21878936;21300047;21672190;21906428;21884468;21140268;23024612;21885850;22000910;21660578;21858121;21905000;21905955;22033412;22229541;22143796;22334788;22483377;22496856;21849906;20863203;22015631;22235284;23190105;22095586;21963094;23288163;23382691;22867989;23123737;23302768;21380565 284 B4DTQ9;E5RFF4;E7ERK4;Q15389 AB084454;ABBA01037696;AC091010;AK300319;AK304717;AL700429;AMYH01018954;AMYH01018955;AP000428;AP003480;AW069541;AY055342;AY121504;AY124380;BC029406;BC152411;BC152419;BX648814;CH471060;CX867178;D13628;NG_029405;NM_001146;NM_001199859;U83508 AAB50557;AAH29406;AAI52412;AAI52420;AAI66662;AAL59669;AAM81745;AAM92271;ACE86690;ACE87374;BAA02793;BAB91325;BAG62071;BAG65481;CAI45984;EAW91909;EAW91910;EAW91911;EAW91912;NP_001137;NP_001186788;Q15389 Hs.369675 1342148;1672825;1712699;1848002;2218990;5015619;5094713 ANGPT1__4215;Angpt1;D11S3114;D8S383;RH121046;RH17369;RH25244 AGP1;AGPT;ANG1 ANG-1;OTTHUMP00000227592;OTTHUMP00000227599;OTTHUMP00000227600;OTTHUMP00000227626;angiopoietin-1 APPROVED protein-coding ENSG00000154188 484 03392 601667 REVIEWED 730844 ANGPT2 angiopoietin 2 The protein encoded by this gene is an antagonist of angiopoietin 1 (ANGPT1) and endothelial TEK tyrosine kinase (TIE-2, TEK). The encoded protein disrupts the vascular remodeling ability of ANGPT1 and may induce endothelial cell apoptosis. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 p23.1 6347601 6408170 - 6357172 6420784 - 1580863;1300283;2313815;2313934;2314171;2314177;2314180;2314189;2314193;2314210;1601505;1601496;2314294;2293853;2314178;2314185;2314207;2314239;2314205;2314216;2314174;2314204;2314206;1601493;2314213;2313816;2314233;2314184;2313817;1626166;2293852;6480464 12861074;15823283;19672036;19070926;18929866;18751736;18615861;18272601;16750245;12737621;12768384;10373119;15705099;18929864;19712575;17065527;15135347;17692314;16520919;18978178;17849463;17494864;16714360;16628643;15209761;15643138;18692629;15047628;15637314;17295646 18516587;16129411;22279570;22311497;9204896;10766762;19351722;19341361;19339208;19300530;19271210;19228739;19223473;19164323;19112163;19082594;19018553;19010534;18996102;18991494;18957536;18952457;18807212;18791490;18720385;18675456;18664247;18644593;18568888;18564921;18541195;18483397;18382887;18310225;18182823;18092380;18006475;17943167;17931370;17928052;17904634;17785951;17724803;17704802;17673702;17630849;17601353;17558601;17513791;17505039;17409768;17395886;17361220;17341311;17322632;17287278;17258205;17200776;17167981;17141400;17030814;17003480;16978614;16978237;16956819;16877277;16830384;16803467;16790091;16723371;16714355;16690881;16629644;16614513;16538528;16525658;16465407;16458662;16424009;16417407;16344560;16338068;16290311;16242072;16182107;16020388;16009172;15769741;15743799;15734895;15694966;15642468;15562207;15542434;15498854;15489334;15375511;15284220;15284088;15213103;15198927;15161644;15127326;15112366;15094228;15003510;15002056;14991531;14976056;14768007;14767538;14726409;14702352;14568550;14556828;14507641;12810677;12717391;12477932;12213874;12176040;12138242;11861279;11856872;11578860;11447223;10964717;10514510;10343124;10051567;9927494;9723709;9545648;8125298;12427764;15893672;12612904;21948244;22449617;22730375;21643812;20806109;20213583;21400522;20629092;21248670;21257790;18269030;19102939;19226440;19403561;19435449;19438587;19476937;19478794;19499513;19502452;19539650;19543148;19551369;19616847;19815705;19875484;19913849;19922791;19954476;20067780;20068079;20099495;20379614;20452482;9660821;20072144;20562294;19728062;20599737;20348331;20088942;20382847;20501615;20583134;20670479;20519501;20673868;17828495;20179005;20208992;20482750;20696814;21081932;21168819;21119365;21603628;21680733;16229183;21042788;19567053;21143700;21163858;18727515;19086654;20359117;21368233;23024612;22949515;22659681;23284823;22642477;21380565;23149917;21179479;21439064;21269615;21778249;22728324;21300047;21672190;23467610;21131273;21149250;21685330;21762624;21884468;21337734;21750433;21884204;21900206;21851472;22000910;21575447;22229541;21858121;22640261;22989097;23190105;23190218;22342979;23409162;23503679;23536671;21450636;21576085;22483377;22585576;20863203;21849906;22182412;21809353;22327175;22015631;22142364;22095586;22750392;22995870;23099117;21956768;22289349;23123737;23302768;22770562;21565611;21963094;22777681 285 E7EVQ3;O15123 AB009865;ABBA01007058;AC018398;AF004327;AF187858;AF218015;AJ289780;AJ289781;AK075219;AK225698;AK290070;AK310171;AK312541;AMYH01018299;AY563557;BC022490;BC126200;BC126202;BC143902;CH471153;CS322905;DA829327;NG_016619;NG_029483;NM_001118887;NM_001118888;NM_001147 AAB63190;AAF76526;AAG17257;AAI26201;AAI26203;AAI43903;AAT69979;ADR83012;BAA95590;BAF82759;BAG35440;CAC08179;CAC08180;CAK96154;EAW80472;EAW80473;EAW80474;NP_001112359;NP_001112360;NP_001138;O15123 Hs.583870 1676612;1707412;1721979;1765359;2140366;2149054;2187306;5020948;5022578;5037552 D1S1423;D8S2279;G35510;G59875;RH47768;RH48380;RH93262;SHGC-148851;SHGC-84494;STS-AA011655 AGPT2;ANG2 ANG-2;OTTHUMP00000115423;OTTHUMP00000224502;OTTHUMP00000224503;Tie2-ligand;angiopoietin-2;angiopoietin-2B;angiopoietin-2a APPROVED protein-coding ENSG00000091879 485 03563 601922 REVIEWED 1351491 ANGPTL5 angiopoietin-like 5 11 11 11 q22.1 98922208 98948056 - 101266615 101292465 - 101761405 101787253 - 737633;6480464 12477932 15489334;12975309;12624729;21559522 253935 E9PKF7;Q86XS5 ABBA01039954;AK291523;AMYH01003990;AP003383;AY169281;AY358827;BC049170;BC053957;CH471065;NM_178127 AAH49170;AAO38749;AAQ89186;BAF84212;EAW67006;NP_835228;Q86XS5 Hs.318370 1681991;1718497 RH122451;RH93179 OTTHUMP00000235685;angiopoietin-like protein 5;angiopoietin-related protein 5;fibrinogen-like protein-coding ENSG00000187151 19705 09638 607666 VALIDATED 1316792 ANGPT4 angiopoietin 4 Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The mechanism by which they contribute to angiogenesis is thought to involve regulation of endothelial cell interactions with supporting perivascular cells. The protein encoded by this gene functions as an agonist and is an angiopoietin. [provided by RefSeq, Jul 2008] 20 20 p13 801296 844960 - 853296 896960 - 1580863;6480464 19204726;17724803;16790085;15489334;15284220;15198927;12624729;12477932;11856872;11780052;11076863;10343124;10218486;10051567;15542434;19913121;20628086;20819778;20823154;10025962;12958144;15851516;20596041;21603628;22267746 51378 B4E3J9;Q9Y264 ABBA01053760;ABBA01053761;AF074332;AF113708;AK304756;AL050325;AL161939;AMYH01011662;BC111976;BC111978;CH471133;CS322907;CS322909;NM_015985 AAD21587;AAD31728;AAI11923;AAI11977;AAI11979;AAI18496;BAG65511;CAK96135;CAK96155;EAX10654;NP_057069;Q9Y264 Hs.278973 2109035 ANGPT4_9713 AGP4;ANG-3;ANG4;MGC138181;MGC138183 ANG-4;OTTHUMP00000029947;angiopoietin-3;angiopoietin-4;dJ824F16.2 (angiopoietin 4) APPROVED protein-coding ENSG00000101280 487 04747 603705 REVIEWED 1347249 ANGPTL1 angiopoietin-like 1 Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. The protein encoded by this gene is another member of the angiopoietin family that is widely expressed in adult tissues with mRNA levels highest in highly vascularized tissues. This protein was found to be a secretory protein that does not act as an endothelial cell mitogen in vitro. [provided by RefSeq, Jul 2008] 1 1 q25.2 177085293 177106838 - 178818670 178840215 - 1580863;6480464 10025962;10051567;18644593;18182823;16710414;16303743;15950186;15940350;15489334;15284220;12624729;12477932;10473614;10318855;9286704;8889548;8125298;15542434;20819778 9068 O95841 AB056476;ABBA01027826;AF086266;AF107253;AK223467;AK300218;AL355520;AMYH01001526;AY358278;BC047670;BC050640;BM710120;BX499002;CD356427;CH471067;NM_004673 AAD19608;AAH50640;AAQ88645;BAB40691;BAD97187;BAG61986;EAW91032;EAW91033;NP_004664;O95841 Hs.591474 1699170;1774355;1797278;2156716 ANGPTL1_2107;RH103165;SHGC-57465;SHGC-75984 ANG3;ANGPT3;ARP1;AngY;KIAA0351;UNQ162;dJ595C2.2 ANG-3;OTTHUMP00000033048;OTTHUMP00000038514;angioarrestin;angiopoietin 3;angiopoietin Y1;angiopoietin-3;angiopoietin-like protein 1;angiopoietin-related protein 1;dJ595C2.2 (angiopoietin Y1) APPROVED protein-coding ENSG00000116194 489 04851 603874 REVIEWED 733949 ANGPTL2 angiopoietin-like 2 Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. ANGPTL2 protein is a secreted glycoprotein with homology to the angiopoietins and may exert a function on endothelial cells through autocrine or paracrine action. [provided by RefSeq, Jul 2008] 9 9 9 q34 100504236 100539652 - 128889449 128924865 - 129849628 129885044 - 1580863;6480464 18593905;8619474;10473614;22556334;17347581;16303743;15489334;15164053;12975309;12624729;12477932;9110174;20304962;17207965;19723494;22345152;22281496;21983347;22966088 23452 Q8NCH7;Q9UKU9 ABBA01043824;AF007150;AF125175;AK074726;AK075026;AK312876;AL356862;AL598400;AMYH01021722;AY358274;BC012368;CH471090;NM_012098 AAD55357;AAH12368;AAQ88641;ADQ32778;BAC11164;BAC11358;BAG35727;EAW87649;EAW87650;EAW87651;EAW87652;NP_036230;Q9UKU9 Hs.653262 1763143;1795356;2117154;5017845;5111056 ANGPTL2;ANGPTL2_1565;RH12756;RH66020;SHGC-146875 ARP2;HARP;MGC8889 OTTHUMP00000022159;OTTHUMP00000022160;angiopoietin-like protein 2;angiopoietin-related protein 2 APPROVED protein-coding ENSG00000136859 490 05415 605001 REVIEWED 1346260 ANGPTL3 angiopoietin-like 3 This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metablism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Feb 2013] 1 1 p31.3 62835775 62843768 + 63063187 63071180 + 1580863;1578347;1578346;2314234;6480464;7240710 12672813;12909640;15094378 18596051;18535744;18804459;18279878;18193044;18193043;18063851;16531751;16335952;15489334;15340161;12975309;12518032;12477932;10644446;12565906;11877390;17110602;19148283;19060906;19028676;17207965;22659251;20570916;20571754;20679960;20595410;20942659;19826106;20864672;19487539;19540497;19542565;19656773;19890028;20160193;20714348;20855565;20972250;19282754;20360639;20837471;23314748;21691831;22247256;22095935;22155345;21983347;20686565;22286219;22062970;22916037;16505486;17681148;19075393;19318355;19474742;22732211;22896670 27329 A0JLS0;B1ALJ0;Q9Y5C1 ABBA01074595;AF152562;AK289426;AK315304;AL138847;AMYH01000669;AY358273;AY569015;BC007059;BC058287;BG562555;BG562798;BG564770;CH471059;FJ515851;NG_028169;NG_033073;NM_014495 AAD34156;AAH07059;AAH58287;AAQ88640;AAS66984;ACS13743;ADQ32112;BAF82115;BAG37708;EAX06583;NP_055310;Q9Y5C1 Hs.209153 1337745;1670676;1797280;2166475 ANGPTL3_2597;D1S3572;D3S2407;RH46994 ANG-5;ANGPT5;ANL3;FHBL2 ANG-5;OTTHUMP00000010719;angiopoietin 5;angiopoietin-5;angiopoietin-like protein 3;angiopoietin-related protein 3 APPROVED protein-coding 491 10381 604774;605019 REVIEWED 6483645 ANHX anomalous homeobox 12 q24.33 133794898 133812422 - 11181995;14702039;16344560 647589 E9PGG2 ABBA01042527;AC226150;AK057223;AMYH01004923;CH471218;DB032853;NM_001191054 BAB71386;E9PGG2;EAW54785;NP_001177983 Hs.703008 1341842;1683074;1766153 D12S2341;RH99248;SHGC-149528 anomalous homeobox protein;hCG2007354;uncharacterized protein LOC647589 protein-coding ENSG00000227059 40024 VALIDATED 1344384 ANGPTL4 angiopoietin-like 4 This gene is a member of the angiopoietin/angiopoietin-like gene family and encodes a glycosylated, secreted protein with a fibrinogen C-terminal domain. This gene is induced under hypoxic conditions in endothelial cells and is the target of peroxisome proliferation activators. The encoded protein is a serum hormone directly involved in regulating glucose homeostasis, lipid metabolism, and insulin sensitivity and also acts as an apoptosis survival factor for vascular endothelial cells. The encoded protein may play a role in several cancers and it also has been shown to prevent the metastatic process by inhibiting vascular activity as well as tumor cell motility and invasiveness. Decreased expression of this protein has been associated with type 2 diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq, Jul 2008] 19 19 p13.3 8335011 8345257 + 8429011 8439257 + 1625353;1625354;1580863;1578349;1578348;6480464;7240710 17210919;15837923;12401877;15863837 22458843;22462789;10698685;11953136;12707035;18029348;19342599;19270337;19246456;19074989;19060906;19028676;19019854;18974381;18940399;18809343;18634015;18442626;18433990;18394990;17322881;17130448;17068295;17049073;16531751;16303743;16272564;16081640;16049480;15870027;15579652;15489334;15190076;14583458;12975309;12594814;12477932;12438262;12015030;11940516;11852057;10866690;22661548;22307217;8125298;20972945;20595396;19826106;20829508;18599063;19542565;19628874;19878569;19890028;20162021;19913121;20628086;20660728;17207965;20664963;20729546;20667978;20927337;21217681;21212665;20454689;21397862;22549372;21398697;22820186;21308352;21489049;21596930;21518214;21714923;22086875;21709421;21937683;22972030;23339868;21674552;21966511;23056264;22078753;20686565;21860410;22573825;22639947;22729570;23183503;22773878;23283507 51129 F5H0I2;M0QZ51;M0R0N8;M0R2X8;M0R369;M0R3A2;Q9Y5B3 AB056477;ABBA01010849;AC136469;AF153606;AF169312;AF202636;AK222489;AK222524;AK303269;AMYH01009441;AW954426;AY358275;BC023647;BG424907;CH471139;NG_012169;NM_001039667;NM_139314 AAD41088;AAF62868;AAG22490;AAH23647;AAQ88642;ADQ32223;BAB40692;BAD96209;BAD96244;BAG64351;EAW68930;EAW68931;NP_001034756;NP_647475;Q9BY76 Hs.9613 1681464;1754013;1794942;1797282;2118272;2126971;5019681 ANGPTL4_1969;D19S1090;G32455;PMC85983P1;RH11623;RH67144;SHGC-132057 ANGPTL2;ARP4;FIAF;HFARP;NL2;PGAR;pp1158 PPARG angiopoietin related protein;angiopoietin-like protein 4;angiopoietin-related protein 4;fasting-induced adipose factor;hepatic angiopoietin-related protein;hepatic fibrinogen/angiopoietin-related protein;peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein APPROVED protein-coding ENSG00000167772 16039 16173 605910 REVIEWED 1318779 ANK3 ankyrin 3, node of Ranvier (ankyrin G) Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] 10 10 q21 61458165 61819494 - 61786056 62493284 - 734573;1580863;6480464;6767288;6767290;6767305 7665168;19306853;10915577 15611082;19088739;18768923;18711365;18635543;18163421;17620337;17373700;17074766;17033732;16775201;16377635;15931389;15823567;15231748;14757759;14702039;12805291;12507143;12036953;11997395;11950515;11807096;11781319;8666667;7836469;10893266;10907644;14761957;22688191;21438140;14694156;16385451;20185149;20351715;20379614;20386566;20936779;20636642;20877300;21037240;15342556;21676128;22986903;23129772;21395576;21304963;21767209;21893642;21972176;22118674;22647524;21139048;21702894;18180363;22180603;21926972;21926974;22182935;22328486;23109352;17370265;22865819;23453885;22498896 288 B1AQT1;D6RBY7;D6RF31;D6RFK6;D6RHY3;H0Y3A4;H0Y8Z4;H0Y951;H0Y9E9;H0YA66;H0YAH5;Q12955;Q8NAK2 AB209308;ABBA01019458;ABBA01019459;ABBA01019460;ABBA01019461;ABBA01019462;ABBA01019463;ABBA01019464;AC022390;AC023904;AK092361;AK092527;AK124230;AK126851;AK128784;AK292927;AK295661;AL136710;AL359267;AL359377;AL391707;AL592430;AL607065;AMYH01002767;AW451432;BG427669;BP216034;BP245303;BX537917;BX648574;CH471083;NG_029917;NM_001149;NM_001204403;NM_001204404;NM_020987;U13616 AAA64834;ACE86862;ACE87550;BAC03910;BAC86721;BAD92545;BAF85616;BAG52538;BAG54022;BAG58523;CAB66645;CAD97900;CAI56716;EAW54199;EAW54200;EAW54201;EAW54202;NP_001140;NP_001191332;NP_001191333;NP_066267;Q12955 Hs.499725 1653049;1666446;1687572;1700520;1727541;1771653;1781878;1787518;1795358;1850045;2110881;2116790;2118990;2141123;2144123;2150169;2156712;2177184;2180377;2184186;2190501;5019679;5024761;5491936 A009D23;ANK3;ANK3_1373;D10S250E;EST12B1;G15868;G17407;G32447;G63028;RH103881;RH15705;RH15734;RH36905;RH64832;RH67964;RH93542;SHGC-105138;SHGC-12959;SHGC-155440;SHGC-2729;SHGC-30886;SHGC-34120;WI-11051;WI-15992 ANKYRIN-G;FLJ45464 ANK-3;OTTHUMP00000019653;OTTHUMP00000019656;OTTHUMP00000217458;OTTHUMP00000217575;ankyrin G119;ankyrin-3;ankyrin-3, node of Ranvier APPROVED protein-coding ENSG00000151150 494 02715 600465 REVIEWED 1322443 ANGPTL6 angiopoietin-like 6 19 19 19 p13.2 10098503 10108914 - 10064013 10074425 - 10203013 10213425 - 6480464 12871997;18464913;16806062;16335952;14764539;12975309;21460784;20673930;19447061;12477932;23070965;23400010 83854 K7EKF6;Q8NI99 AB054064;ABBA01029947;ABBA01029948;AC020931;AF230330;AMYH01009467;AY358276;BC142632;CH471106;NM_031917 AAI42633;AAK06404;AAQ88643;BAB91248;EAW84071;EAW84072;NP_114123;Q8NI99 Hs.712850 1650218;1777662;2218724 ANGPTL6__4301;D19S1125;RH11710 AGF;ARP5 angiopoietin-like protein 6;angiopoietin-related growth factor;angiopoietin-related protein 5;angiopoietin-related protein 6 protein-coding ENSG00000130812 23140 12453 609336 VALIDATED 2301773 ANKDD1B ankyrin repeat and death domain containing 1B 5 5 5 q13.3 70800866 70858526 + 74934498 75001205 + 74916140 74966865 + 15372022;20379614 728780 A6NHY2 ABBA01061945;ABBA01061946;AC010245;AK307154;AMYH01015409;AMYH01015410;AMYH01015411;CH471084;NM_001271529;NM_001276713 A6NHY2;EAW95766;NP_001258458;NP_001263642 Hs.370455 1728963;1773239 D13Gor3;RH46462 OTTHUMP00000231493;ankyrin repeat and death domain containing 1B;ankyrin repeat and death domain-containing protein 1B;ankyrin repeat and death domain-containing protein ENSP00000345065 protein-coding 32525 VALIDATED 1350833 ANGPTL7 angiopoietin-like 7 1 1 1 p36 10361738 10368376 + 11171985 11178625 + 11249398 11256038 + 1580863;6480464 8026862;18421092;16710414;15489334;15340161;12975309;12477932;11682471;11426320;9727400;8144038;21199193;21697133;21832049;12107410;17695521 10218 F1T0A6;O43827 AB593026;AB593027;ABBA01003045;AJ300188;AK313716;AL049653;AL391561;AMYH01000252;AY358301;BC001881;BT009802;CA391009;CH471130;DQ012507;NG_033239;NM_021146;Y16132 AAH01881;AAP88804;AAQ88668;AAY22173;ABM83481;ABM86692;BAG36459;BAJ83980;BAJ83981;CAA76078;CAC15571;EAW71685;NP_066969;O43827 Hs.146559 2130327 SHGC-74210 AngX;CDT6;RP4-647M16.2;dJ647M16.1 OTTHUMP00000001986;angiopoietin-like factor (CDT6);angiopoietin-like protein 7;angiopoietin-related protein 7;cornea-derived transcript 6 protein protein-coding ENSG00000171819 24078 10818 VALIDATED 1604222 ANKFN1 ankyrin-repeat and fibronectin type III domain containing 1 17 17 17 q22 50692552 51021724 + 51585835 51915006 + 54230836 54560007 + 6480464 18391950;14702039;20379614;21668797 162282 H3BM45;I3L0N6;Q8N957 ABBA01041297;ABBA01041298;ABBA01041299;ABBA01041300;ABBA01041301;ABBA01041302;AC006600;AC006925;AC015724;AK095654;AMYH01008491;CH471109;NM_153228 BAC04599;EAW94530;EAW94531;EAW94532;NP_694960;Q8N957 Hs.673040 1335357;1708118;1713481;1753935;2135784 D17S669;D17S913;RH120224;SHGC-108145;SHGC-81459 FLJ38335 OTTHUMP00000207114;ankyrin repeat and fibronectin type-III domain-containing protein 1 protein-coding ENSG00000153930 26766 08238 VALIDATED 1603564 ANKAR ankyrin and armadillo repeat containing 2 2 2 q32.2 184135616 184206285 + 190249675 190319615 + 190540711 190611376 + 6480464 15110750;14702039;12477932;21565611;23251661 150709 E7EWS1;J3KQB7;Q70AK8;Q7Z5J8 ABBA01062379;ABBA01062380;AC012488;AC013468;AJ549812;AJ605761;AK027836;AK058144;AK098551;AK126073;AK307328;AMYH01011344;BC037215;BC044907;BC047413;CH471058;NM_144708 AAH44907;AAH47413;BAB71684;BAC05330;BAC86425;CAD71147;CAE53955;EAX10895;EAX10897;NP_653309;Q7Z5J8 Hs.60772;Hs.655700 1645415;1685864;1856971 RH11855;RH92442;SHGC-52566 FLJ25415 OTTHUMP00000205603;OTTHUMP00000205619;ankyrin and armadillo repeat-containing protein protein-coding ENSG00000151687 26350 609803 VALIDATED 1604469 ANKDD1A ankyrin repeat and death domain containing 1A 15 15 15 q22.31 42082165 42129108 + 62991154 63038095 + 65204101 65251042 + 6480464 12477932;22139419 348094 D6RD28;E9PHA0;Q495B1;Q6PI29;Q8TAJ8 ABBA01038865;AC069368;AK075298;AK098736;AK307698;AMYH01006714;BC027350;BC042002;BC047571;BC047607;BC101273;BC101274;BC101275;BC101276;BC110610;CH471082;DR004550;NM_182703 AAH27350;AAH47607;AAI01274;AAI01275;AAI01276;AAI01277;BAC05399;BAC11532;EAW77702;EAW77703;NP_874362;Q495B1 Hs.207157 1673870;1673872;1738961;1767629;2133937;5020948;5109281 A008V12;D15S553;D15S859;D1S1425;G35510;RH44574;SHGC-33583 FLJ18078;FLJ25870;MGC120305;MGC120306;MGC120307 OTTHUMP00000164083;OTTHUMP00000164131;OTTHUMP00000220561;ankyrin repeat and death domain-containing protein 1A protein-coding ENSG00000166839 28002 14178 VALIDATED 1320055 ANK1 ankyrin 1, erythrocytic Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008] 8 8 p11.1 41629901 41774297 - 41510744 41754280 - 1599109;1599110;1578350;1580863;6480464;7240710 9202331;9378703;8640229 11427698;9430667;1833445;12409278;379653;18987618;18768923;17720975;17716929;16762928;16718373;15489334;15051494;15040428;17520478;17128827;12719424;12631729;12527750;12477932;12456646;12444090;12130521;12019270;11372755;11222639;10910934;10893266;9804856;9628825;9587054;9235914;9024692;8703812;8681137;8385102;8227202;8125298;7505012;6449514;2971657;2970468;2968981;2141335;2137557;1689849;492324;22573887;21177872;16580865;16962094;20379614;16597699;20479128;17207965;15929114;20858683;21099109;21071415;21493712;22968456;22348230;12543979;22424883;22456796;8159688;23013433;23457408 286 B3KX39;C9JN86;H0YAY8;H0YBS0;Q6PK32;Q8N604 AA404587;AB209418;ABBA01021136;ABBA01021137;ABBA01021138;AC027702;AC113133;AI167814;AI684839;AK126647;AK129864;AK223578;AMYH01018674;BC007930;BC014467;BC030957;BC117121;BX647936;CH471080;F28948;M28880;N63745;NG_012820;NM_000037;NM_001142445;NM_001142446;NM_020475;NM_020476;NM_020477;NM_020478;NM_020480;S82671;U49691;U50092;U50133;X16609 AAA51732;AAB46776;AAB47804;AAB47805;AAH07930;AAH30957;AAI17122;AAI56402;ADQ32237;BAD92655;BAD97298;BAG54351;CAA34610;CAA34611;EAW63241;EAW63242;EAW63243;EAW63244;EAW63245;EAW63246;EAW63247;EAW63248;EAW63249;EAW63250;NP_000028;NP_001135917;NP_001135918;NP_065208;NP_065209;NP_065210;NP_065211;NP_065213;P16157 Hs.654438;Hs.667377;Hs.708861 1666738;1670319;1675017;1681187;1689067;1694670;1716737;1721389;1730791;1754039;1761021;1855025;1855260;2115674;2126501;2150605;2152733;2156708;2165580;2180189;7184748 D8S2039;D8S2070;D8S2329;D8S311;D8S329;G19345;G43516;G59696;GDB:178523;RH121660;RH45454;RH46517;RH69660;RH79857;RH91316;SHGC-12309;SHGC-132081;SHGC-144984;STS-W88737;WI-11722 ANK;SPH1;SPH2 ANK-1;OTTHUMP00000196860;OTTHUMP00000196861;OTTHUMP00000196862;OTTHUMP00000196863;OTTHUMP00000196864;OTTHUMP00000225819;OTTHUMP00000225820;OTTHUMP00000225822;ankyrin-1;ankyrin-R;erythrocyte ankyrin APPROVED protein-coding ENSG00000029534 492 01693 182900;612641 REVIEWED 1317291 ANK2 ankyrin 2, neuronal This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011] 4 4 q25-q27 114190319 114524337 + 113739239 114304896 + 1599109;1599110;734572;1599114;1599116;6480464;6767284;7240710 9202331;9378703;12571597;15178757;12949909;21859974 20471030;15262991;15611082;18832177;18790697;18782775;18303017;18275062;18052691;17940615;17474147;17242276;17178715;17161064;17081983;16864073;16292983;16253912;15851119;15310273;15146197;15075330;14702039;14657231;14593108;19098452;12527750;12477932;11781319;11449000;11149946;10579720;9832558;8253844;7485162;1833308;1830053;2968981;15647482;19109891;20031550;20080650;20332099;20379614;16597699;19913121;20628086;20573981;22861190;23569209;17456239;8619474;9110174;17043677;21139048;21890473;20682791;22219177;22778271 287 B7Z651;D6R9U4;D6RHC5;D6RHE1;D6RIY9;E9PCH6;E9PHW9;H0Y8X8;H0Y8Y2;H0Y931;H0Y933;H0YAG3;I6L894;Q01484 ABBA01063822;ABBA01063823;ABBA01063824;ABBA01063825;ABBA01063826;ABBA01063827;ABBA01063828;ABBA01063829;ABBA01063830;ABBA01063831;ABBA01063832;AC004057;AC017007;AC093617;AC093879;AC093900;AC108042;AF131823;AK021894;AK095596;AK128049;AK294720;AK299767;AK299815;AK299893;AK307601;AL706912;AMYH01014471;AMYH01014472;AMYH01014473;AMYH01014474;BC017986;BC047498;BC125235;BC125236;BQ716903;BQ890406;BX537758;BX538132;BX538239;CH471057;CN259048;DQ925692;DQ925693;M37123;NG_009006;NM_001127493;NM_001148;NM_020977;X56957;X56958;Z26634 AAA62828;AAI25236;AAI25237;ABL59919;ABL59920;BAH11860;BAH13122;BAH13137;BAH13164;CAA40278;CAA40279;CAB42644;CAD97827;CAD98033;CAD98077;EAX06287;EAX06288;EAX06289;EAX06290;EAX06291;EAX06292;NP_001120965;NP_001139;NP_066187;Q01484 Hs.620557 1339569;1649045;1652819;1656649;1660795;1661781;1668588;1674549;1677342;1678983;1696046;1704590;1705846;1707732;1708502;1710846;1714523;1754333;1765237;1775651;1777565;1858070;2136983;2177103;2217010;5022200;5022651 AFM186xb4;ANK2_3170;D11S2921;D4S2309;D4S2542E;L18426;NIB1562;RH119774;SHGC-11962;SHGC-132360;SHGC-14389;SHGC-148725;SHGC-23852;SHGC-23907;SHGC-24748;SHGC-50779;SHGC-59287;SHGC-59553;SHGC-67324;SHGC-79494;SHGC-81181;SHGC-82082;SHGC-83104;SHGC-83197;SHGC-84192;WI-19148;WIAF-2193 ANK-2;DKFZp686M09125;DKFZp686P0948;FLJ11832;FLJ38277;FLJ46169;LQT4;brank-2 ANK-2;OTTHUMP00000163833;OTTHUMP00000163834;OTTHUMP00000220392;OTTHUMP00000220393;OTTHUMP00000220397;OTTHUMP00000220398;OTTHUMP00000231464;ankyrin B;ankyrin, brain;ankyrin, nonerythroid;ankyrin-2;ankyrin-2, nonerythrocytic;brain ankyrin;brank-2;non-erythroid ankyrin APPROVED protein-coding ENSG00000145362 493 00110 106410;600919 REVIEWED 1353837 ANKL1 ankyrin-like 1 65976 14588 1312470 ANKEF1 ankyrin repeat and EF-hand domain containing 1 20 20 20 p12.2 10085809 10107527 + 9963697 9985407 + 10015697 10037407 + 1580863;6480464 14702039;12477932;11780052;20211142;21906983;17142250 63926 Q8TCA8;Q9NU02 ABBA01053932;AK025322;AK074463;AK097689;AL109754;AMYH01011708;BC011591;BC022878;BC028189;BI562273;BI826033;CH471133;HI573924;HI573926;NM_022096;NM_198798 AAH22878;ABM81831;ABM84984;BAB15111;BAG53512;CBX47451;CBX47452;EAX10355;NP_071379;NP_942093;Q9NU02 Hs.70903 1339840;1754073;2114026;2115015 AB072772;D20S162;RH47929;SHGC-132109 ANKRD5;FLJ21669;dJ839B4.6 OTTHUMP00000030262;OTTHUMP00000030263;ankyrin repeat and EF-hand domain-containing protein 1;ankyrin repeat domain 5;ankyrin repeat domain-containing protein 5 APPROVED protein-coding ENSG00000132623 15803 10652 VALIDATED 1313623 ANKK1 ankyrin repeat and kinase domain containing 1 The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009] 11 11 q23.2 112763723 112776350 + 113258513 113271140 + 1580863;6480464 19373123;19339270;19321766;19291230;19283474;19046929;19025655;18927395;18926547;18828801;18698520;18690118;18669994;18354387;18259088;18075468;18063936;18058350;18058343;18037170;17850642;17767146;17761687;17671965;17669630;17453061;17446975;17189962;17120049;17085484;17069991;16869231;16032443;16026865;15939106;15812318;15545020;15542731;15146457;21352928;14741327;12762588;12605103;12555236;12471243;12151753;19512960;19692168;19717274;19897017;19900188;19914044;20133381;20138949;20180986;20199723;20410875;20734064;21041608;20577142;22382052;21936764;21168125;20845092;21070510;21510979;21540761;21261454;22232965;23383291;22728571;23203481;23303482;23590110;22698582;22967772 255239 H0YH32;Q8NFD2 ABBA01039789;AF487542;AF525298;AJ541797;AMYH01004038;AP002840;CH471065;EF444946;NG_012976;NM_178510 AAI56147;AAI72460;AAM91924;AAQ09005;ACA05931;CAD62569;EAW67216;EAW67217;NP_848605;Q8NFD2 Hs.448473 PKK2 OTTHUMP00000236610;X-kinase;ankyrin repeat and protein kinase domain-containing protein 1;protein kinase PKK2;sgK288;sugen kinase 288 APPROVED protein-coding ENSG00000170209 21027 10580 608774 REVIEWED 1602794 ANKHD1-EIF4EBP3 ANKHD1-EIF4EBP3 readthrough The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring readthrough transcript of the neighboring ANKHD1 and EIF4EBP3 genes. This readthrough transcript encodes a protein composed mostly of the multiple ankyrin repeats, single KH-domain protein, with its C-terminus encoded in a different reading frame from the shared portion of the EIF4EBP3 gene. The significance of this readthrough mRNA and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2009] 5 5 5 q31.3 135858059 136005914 + 139761613 139909347 + 139781399 139929163 + 6480464 16344560;14743216;14557257;10470851;18029348;12477932;16297570;20967262;20936779;22505724 404734 H7C0V5;Q9HA95 AB029008;ABBA01026426;ABBA01026427;ABBA01026428;ABBA01026429;ABBA01026430;ABBA01026431;ABBA01026432;ABBA01026433;AC008438;AC011399;AF521883;AK125734;AMYH01015657;AMYH01015658;AMYH01015659;BC144623;CH471062;DA859680;NM_020690 AAI72416;AAO14944;BAA83037;EAW62055;NP_065741 Hs.594084 1337863;1651430;1666798;1682904;1698632;1735456;1773378;1773380;1780274;1792176;2107035;2120754;2138242;2161727;2173232;5106862;7184920 A001T37;D5S1582E;D5S2116;EIF4EBP3_7925;G19635;PMC138568P1;RH102873;RH66185;RH67791;RH67899;RH69856;RH78625;RH93300;SHGC-150281;STS-AA019993;WI-14182 MASK-BP3;MASK-BP3arf ANKHD1-EIF4EBP3 protein;MASK-4E-BP3 alternate reading frame;OTTHUMP00000159882;OTTHUMP00000174758;OTTHUMP00000232174 APPROVED protein-coding ENSG00000131503;ENSG00000254996 33530 17468 REVIEWED 1320021 ANKFY1 ankyrin repeat and FYVE domain containing 1 This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012] 17 17 17 p13.3 4078241 4178752 - 4013414 4114023 - 4066665 4167274 - 6480464 17273843;16344560;15328530;14702039;12477932;12168954;10940552;10574462;10092534;8125298;18029348;20562859;19615732;23184937;22863883;21139048;21890473;22284051;21628590;21145461;22053931;22505724;22952844 51479 B3KPZ0;I3L1Z9;I3L3P8;K7EPT2;Q9P2R3 AB033081;AB037360;AB073897;ABBA01054755;ABBA01054756;ABBA01054757;ABBA01054758;ABBA01054759;AC087292;AC087742;AK025483;AK025717;AK025960;AK057047;AK074324;AK091008;AK225170;AK292930;AK302712;AL706226;AMYH01008035;BC052308;BC060812;CH471108;CR933717;DA856905;NM_001257999;NM_016376;NR_047571 AAH52308;AAI48356;AAI52992;BAA86569;BAA90300;BAF85619;BAG51852;BAG63933;CAI46247;EAW90448;EAW90449;EAW90450;NP_001244928;NP_057460;Q9P2R3 Hs.696087 1671472;1673031;1699004;1708520;1724973;1733392;5019591;5092432;5092444;5092462 D14S567;G54287;G54294;G54297;G54313;RH103073;RH118775;SHGC-36655;SHGC-85035;WI-12317 ANKHZN;BTBD23;DKFZp686M19106;KIAA1255;ZFYVE14 Rabankyrin-5;ankyrin repeat and FYVE domain-containing protein 1;ankyrin repeat hooked to zinc finger motif;ankyrin repeats hooked to a zinc finger motif APPROVED protein-coding ENSG00000185722 20763 09717 607927 REVIEWED 1606539 ANKHD1 ankyrin repeat and KH domain containing 1 This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010] 5 5 5 q31.3 135858059 135996193 + 139761613 139899625 + 139781399 139919441 + 6480464 12812986;16956752;16713569;16297570;16098192;14743216;14702039;14557257;12477932;11230166;10470851;16169070;22586326;21145461;18029348;16344560;21903422;22190034;22505724;23142581 54882 D6RHC4;E9PDP5;F6WFL0;H0Y472;H0Y4P6;H0Y785;H0Y7Y3;H3BLS9;H7C2E1;H7C2F5;Q9HA95 ABBA01026426;ABBA01026427;ABBA01026428;ABBA01026429;ABBA01026430;ABBA01026431;ABBA01026432;ABBA01026433;AC008438;AC011399;AF217646;AF258557;AF521882;AI675547;AI870943;AK000295;AK000904;AK022041;AK022433;AK024056;AK024189;AK074173;AK098574;AL136943;AMYH01015657;AMYH01015658;AMYH01015659;AY070436;BC004457;BC009420;BC009909;BC040231;BC117677;BC117678;BC127127;BC150486;CH471062;DA509209;NM_001197030;NM_017747;NM_017978;NM_024668 AAG23760;AAG41779;AAH04457;AAH09420;AAH09909;AAH40231;AAI17678;AAI17679;AAI27128;AAI50487;AAI72415;AAL65263;AAO14943;ADZ16059;BAA91063;BAA91417;BAB13958;BAB14849;BAB84999;CAB66877;EAW62057;EAW62058;EAW62059;NP_001183959;NP_060217;NP_060448;NP_078944;Q8IWZ3 Hs.594084 1337863;1666798;1682904;1698632;1780274;2120754;2138242;2173232;5014039;5015404;5016478;5022463;5037552;5106862;7184920 D22S1584;D3S1673;D5S2116;D8S2279;GDB:434012;L17705;RH102873;RH66185;RH67791;RH67899;RH69856;RH93300;SHGC-150281;STS-AA019993 MASK;PP2500;VBARP HIV-1 Vpr-binding ankyrin repeat protein;OTTHUMP00000159882;OTTHUMP00000159883;OTTHUMP00000174758;OTTHUMP00000174759;OTTHUMP00000174760;VPR-binding ankyrin repeat protein;ankyrin repeat and KH domain-containing protein 1;hMASK;multiple ankyrin repeats single KH domain;multiple ankyrin repeats, single KH-domain homolog APPROVED protein-coding ENSG00000131503 24714 16489 610500 REVIEWED 734405 ANKH ANKH inorganic pyrophosphate transport regulator This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008] 5 5 p15.1 14762019 14924876 - 14704909 14871887 - 734569;734571;734570;634632;734964;1580863;6480464;7240710 10894769;11326272;12297987;12861042;11326338 18821330;18299954;17950726;17563703;17403715;17186460;17147692;16724232;16344560;15818664;15780964;15489334;15474385;15461680;14702039;14558096;13130483;12975309;12707589;12632434;12477932;12297989;12185249;10997877;10610710;9915952;9382103;8528213;8125298;22437419;19369455;19419319;19449425;19888898;20231843;20379614;20646567;20358596;20943778;20301634;21149338;21163940;21906983;22150416;21963094;21988832;22003394;22089454;22647861;21811784 56172 B3KMG4;D6RGI5;Q9HCJ1 AB046801;ABBA01020638;ABBA01020639;ABBA01020640;AC010491;AC016575;AC025456;AF274753;AK001799;AK054966;AK130676;AK222631;AK315012;AMYH01014922;AMYH01014923;AY358503;BC009835;BC014526;BQ008340;BU193060;CH471102;DA126651;NG_008273;NM_054027 AAF88039;AAH09835;AAH14526;AAQ88867;ABM83514;ABM86732;BAB13407;BAD96351;BAG37504;BAG50976;EAX08034;EAX08035;NP_473368;Q9HCJ1 Hs.156727 1651183;1664833;1700546;1701356;1719281;1735532;1768585;2129384;2148542;2154843;2155027;2168550;2170606;5015861;5092986;7185938 A004S29;A009D34;D10S16;D5S1665E;D5S2663;G32452;IB363;RH103894;RH104308;RH123363;RH12671;RH16357;SHGC-35145;WI-15017;WI-18203 ANK;CCAL2;CMDJ;CPPDD;FLJ27166;HANK;MANK OTTHUMP00000115641;ankylosis, progressive homolog;progressive ankylosis;progressive ankylosis protein homolog APPROVED protein-coding ENSG00000154122 15492 05509 118600;123000;605145 REVIEWED 1605878 ANKLE1 ankyrin repeat and LEM domain containing 1 19 19 19 p13.11 17294193 17300193 + 17253454 17259454 + 17392454 17398454 + 6480464 16344560;15565891;14702039;12477932;20852631;20852633;20237496;17549794;21890473;21906983;22399800;22976474 126549 B4E124;J3KPY6;M0QX15;M0R002;Q8NAG6 ABBA01051191;AC010463;AK092706;AK096688;AK299977;AK303628;AMYH01009570;BC119015;BC125274;CH471106;DA900798;DC410789;EU184013;NM_001278443;NM_001278444;NM_001278445;NM_152363;NR_103530 AAI25275;ABW73565;BAC03953;BAC04840;BAG61800;BAG64636;EAW84586;EAW84587;EAW84588;NP_001265372;NP_001265373;NP_001265374;NP_689576;Q8NAG6 Hs.721610 1339866;5023733;5024761;5127905 AU048745;D19S410;RH36905;SHGC-152141 ANKRD41;FLJ39369;LEM3;LEMD6 LEM domain containing 6;LEM-domain containing 3;LEM-domain containing protein 3;OTTHUMP00000198604;OTTHUMP00000198605;OTTHUMP00000201269;ankyrin repeat and LEM domain-containing protein 1;ankyrin repeat domain 41;ankyrin repeat domain-containing protein 41 protein-coding ENSG00000160117 26812 08801 VALIDATED 1316285 ANKIB1 ankyrin repeat and IBR domain containing 1 7 7 7 q21.2 86580099 86735226 + 91713484 91868634 + 91875548 92030698 + 1580863;6480464 17081983;15489334;14702039;12477932;10718198;20379614;16196087;19240029;21139048;21906983 54467 C9JZ63;H7C0S0;H7C2L9;H7C2V2;Q9P2G1 AACC02000014;AB037807;ABBA01045804;ABBA01045805;AC000118;AC000120;AC004539;AC007566;AK001179;AK025475;AK057685;AL137349;AMYH01017690;AMYH01017691;BC031483;BC041643;BC063861;BC073893;BC094865;CH236949;CH471091;NM_019004 AAH31483;AAH63861;AAH73893;AAH94865;BAA91537;BAA92624;CAB70704;EAW76852;NP_061877;Q9P2G1 Hs.741328 1649333;1686234;1698980;1735712;1775519;2122061;2125158;2133714;2142494;2156927;2179153 D7S2094E;D7S2167E;D7S2796;D7S2921;D7S548E;G17116;G31812;RH103059;RH80670;SHGC-56136;SHGC-56138 DKFZp434A0225;FLJ33123;KIAA1386 OTTHUMP00000208793;ankyrin repeat and IBR domain-containing protein 1 protein-coding ENSG00000001629 22215 VALIDATED 1314392 ANKMY2 ankyrin repeat and MYND domain containing 2 7 7 7 p21 16619158 16665198 - 16605937 16651923 - 16639401 16685442 - 737633;1580863;6480464 12477932 15489334;14702039;12690205;21044950;16344560;8889548;22863883;21906983 57037 F8WB95;F8WDN1;G3V0G5;Q8IV38 AACC02000008;ABBA01056630;ABBA01056631;ABBA01056632;AC005014;AC073201;AK001389;AK001740;AK023704;AL050390;AMYH01017092;BC015453;BC035353;BU674794;CH236948;CH471073;DA210027;NM_020319 AAH15453;AAH35353;ACE86972;ACE87662;BAG50900;BAG51218;CAH56419;EAL24286;EAW93671;EAW93672;EAW93673;EAW93674;NP_064715;Q8IV38 Hs.157378 1700910;2123953;2141831 D7S2088E;RH104082;SHGC-17250 DKFZp564O043;ZMYND20 OTTHUMP00000116019;OTTHUMP00000201684;ankyrin repeat and MYND domain-containing protein 2 protein-coding ENSG00000106524 25370 12454 VALIDATED 1604388 ANKLE2 ankyrin repeat and LEM domain containing 2 12 12 12 q24.33 133002795 133037583 - 131812327 131848524 - 133302254 133338451 - 6480464 22542470;22770216;18029348;17081983;16964243;16344560;15489334;14702039;12477932;9734811;19156129;18624398;21906983 23141 F5H1D4;F5H1E7;F5H2H5;F5H417;F5H6J0;Q86XL3 AB014592;ABBA01012370;ABBA01012371;ABBA01012372;ABBA01042548;ABBA01042549;ABBA01042550;ABBA01042551;AC135586;AC136467;AK024061;AK025933;AK093451;AK293028;AMYH01004921;BC001530;BC025347;BC043157;BC062373;BC082962;DA757330;DB453975;NM_015114 AAH01530;AAH25347;AAH43157;AAH62373;AAH82962;BAA31667;BAF85717;BAG51259;BAG52720;NP_055929;Q86XL3 Hs.654628 1340726;1722945;2119242;2173388;2173390;2178195 A005X42;D12S1638;G20583;G60570;RH44489;RH78044 FLJ22280;FLJ36132;KIAA0692;LEMD7;Lem4 LEM domain containing 7;LEM domain-containing protein 4;OTTHUMP00000237681;OTTHUMP00000237682;ankyrin repeat and LEM domain-containing protein 2 protein-coding ENSG00000176915 29101 VALIDATED 1345862 ANKMY1 ankyrin repeat and MYND domain containing 1 2 2 2 q37.3 235090758 235169607 - 241067512 241146078 - 241418839 241497405 - 1580863;6480464 15489334;14702039;12477932;8125298;20379614;22139419 51281 B5MBY4;C9J176;C9J5V7;C9JGS7;C9JZ56;F5H558;H7BYI0;H7BYZ8;H7C254;J3KPY5;J3KQ07;J3KQ21;Q6GPI0;Q9P2S6 AB034636;ABBA01048871;ABBA01048872;ABBA01048873;AC124862;AK000506;AK056511;AK125881;AK225534;AK296714;AK314534;AL136618;AL833866;AMYH01011622;BC033495;BC036111;BC041887;BC073146;CH471063;CR936600;CR936759;NM_016552;NM_017844 AAH33495;AAH73146;AAX88942;ACE86856;ACE86879;ACE87543;BAA91213;BAA92844;BAG37125;BAH12418;CAB66553;CAD38724;CAI56748;EAW71187;EAW71188;EAW71189;EAW71190;EAW71191;NP_057636;NP_060314;Q9P2S6 Hs.656615 1781322;1781324;2185056;5015861;5037552;5109281;7185938 D10S16;D1S1425;D2S1378;D8S2279;G31178;G31179 DKFZp686D20155;DKFZp686L21237;FLJ20499;ZMYND13 OTTHUMP00000164505;OTTHUMP00000164506;OTTHUMP00000201484;OTTHUMP00000201487;OTTHUMP00000201488;OTTHUMP00000201489;ankyrin repeat and MYND domain-containing protein 1;testis specific ankyrin-like protein 1;testis-specific ankyrin-like protein 1;zinc finger MYND domain-containing protein 13 protein-coding ENSG00000144504 20987 10646 VALIDATED 1321439 ANKRD10 ankyrin repeat domain 10 13 13 13 q34 92377096 92413637 - 110328888 110365417 - 111530887 111567416 - 6480464 14702039;12477932;12938929;19322201 55608 Q8IUW1;Q9NXR5 ABBA01026990;AK000100;AK000111;AK026017;AK094222;AK095763;AK096083;AK123341;AK125100;AL157875;AL442128;AMYH01005379;BC001727;BC039715;BX641022;BX648721;CH471085;NM_017664 AAH01727;AAH39715;BAA90945;BAA90951;BAB15323;BAG53125;BAG53208;BAG53891;BAG54142;CAH56123;EAX09134;EAX09135;EAX09136;NP_060134;Q9NXR5 Hs.525163 1651795;1667786;1738435;1753941;1852825;1857264;2110957;2119676;2131607;2178229;2183709;2187036 D13S229E;D13S851E;G20562;RH45174;RH71139;SGC30179;SHGC-34204;SHGC-89345;STS-AA007174;STS-N30312;UniSTS:153217;WI-22180 DKFZp686B07190;FLJ20093 OTTHUMP00000018708;ankyrin repeat domain-containing protein 10 protein-coding ENSG00000088448 20265 12455 VALIDATED 1347651 ANKRA2 ankyrin repeat, family A (RFXANK-like), 2 5 5 5 q12-q13 68743316 68756798 - 72883919 72897254 - 72848025 72861511 - 1580863;6480464 11095640;15964851;15489334;14702039;12477932;10965114;17949687;15280358;21832049;22318606;22649097 57763 D6RBK8;Q9H9E1 ABBA01061920;AC010279;AF251051;AF314032;AK022876;AL558295;AMYH01015406;BC012917;CH471084;DB543368;NM_023039 AAH12917;AAK01621;AAK34941;ABM82477;ABM85664;BAB14288;EAW95729;EAW95730;NP_075526;Q9H9E1 Hs.239154 1655844;1797070;2122679;2219774 ANKRA2;ANKRA2__4305;RH46202;RH78606 ANKRA OTTHUMP00000128195;RFXANK-like protein 2;ankyrin repeat family A protein 2 protein-coding ENSG00000164331 13208 12044 605787 VALIDATED 5130813 ANKRD10-IT1 ANKRD10 intronic transcript 1 (non-protein coding) 13 13 92397340 92399786 - 111551120 111554449 - 12477932;14702039 100505494 ABBA01026990;AK124233;AL442128;AMYH01005379;BC034813;XR_109155;XR_111397;XR_172017 Hs.655994 1667786;1667788;5015619 A005X01;D11S3114;G20562 FLJ42239 miscrna 39891 MODEL 1348352 ANKRD1 ankyrin repeat domain 1 (cardiac muscle) The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008] 10 10 q23.31 92661837 92671012 - 92671857 92681032 - 1578370;1580863;1578366;5133280;5133277;5133278;5133279;5133276;6480464 10904011;14516314;15632022;19525294;19299913;17610582;19608031 14583192;22892129;7730328;19608030;19589340;18980987;18656235;18273862;17239933;16450059;16344560;15805281;15698842;15489334;15164054;12679596;12524226;12477932;12054667;11309420;20602615;20628624;20599664;20164196;20860623;11139470;21139048;22185618;22085644;20301486 27063 Q05DQ9;Q15327 ABBA01021930;ABBA01021931;AF131884;AK290960;AL590622;AMYH01002938;AU139209;AY903446;BC005191;BC018667;CH471066;NG_023227;NM_014391;X83703 AAH05191;AAH18667;AAX23581;ABM83778;ABM87098;BAF83649;CAA58676;EAW50116;NP_055206;Q15327 Hs.448589 1690438;2109039;2123017;2159094;5491938;5492365 ANKRD1-1;ANKRD1_9516;Ankrd1;RH98636;SHGC-35401;STS-X83703 ALRP;C-193;CARP;CVARP;MCARP;bA320F15.2 OTTHUMP00000020084;ankyrin repeat domain-containing protein 1;cardiac ankyrin repeat protein;cytokine-inducible gene C-193 protein;cytokine-inducible nuclear protein;liver ankyrin repeat domain 1 APPROVED protein-coding ENSG00000148677 15819 10647 609599 REVIEWED 1349121 ANKRD14 ankyrin repeat domain 14 445575 23431 1320836 ANKRD12 ankyrin repeat domain 12 This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011] 18 18 18 p11.22 9066843 9169731 + 9126758 9275206 + 9136751 9285983 + 6480464 18377363;16582619;15342556;15184363;14702039;12477932;10048485;21145461;20379614;18029348 23253 B5MEA4;F5GYX2;J3KS53;J3KSU9;J3QRX3;Q6UB98 AB020681;AB073645;AB075493;ABBA01049947;ABBA01049948;ABBA01049949;AF147338;AF317425;AK000060;AK021430;AK024808;AK092124;AL834204;AMYH01008801;AMYH01008802;AP001033;AP005263;AY373757;AY533564;BC057225;BC070234;BM992146;BP230422;BP255733;CH471113;NM_001083625;NM_001204056;NM_015208;X80821 AAG38609;AAH57225;AAH70234;AAI56481;AAI72538;AAR25662;AAS45545;BAA74897;BAA90917;BAB15014;BAE45749;CAA56787;CAH56382;EAX01609;EAX01610;NP_001077094;NP_001190985;NP_056023;Q6UB98 Hs.464585 1675335;1683325;1685169;1691202;1694846;1696962;1698384;1700484;1707746;1708384;1711984;1739229;1756995;1779088;2124969;2179822;2186547;5021872;5022200;5022578 D18S1016;D18S1236;D1S1423;G44291;L18426;RH101953;RH102733;RH103863;RH118445;RH16223;RH75135;RH79631;RH94073;RH99046;SHGC-144352;SHGC-56504;SHGC-58356;SHGC-82089;SHGC-82874;sY3084 ANCO-2;ANCO1;FLJ20053;GAC-1;KIAA0874;Nbla00144 OTTHUMP00000162350;ankyrin repeat domain-containing protein 12;ankyrin repeat-containing cofactor 2;putative protein product of Nbla00144 APPROVED protein-coding ENSG00000101745 29135 12457 610616 REVIEWED 1315433 ANKRD11 ankyrin repeat domain 11 This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012] 16 16 16 q24.3 74399601 74619674 - 87861536 88084470 - 89334029 89556969 - 6480464 18840648;17521611;17081983;15489334;15184363;14702039;12477932;11483580;19920853;23502783;23752268;21782149;16344560;21139048;22538187 29123 H0Y2U4;H0Y3E3;H3BNU4;H3BVB8;Q6UB99 AB209186;ABBA01014150;ABBA01014151;ABBA01014152;ABBA01014153;ABBA01014154;ABBA01014155;ABBA01014156;AC092120;AC092123;AC137932;AF121775;AF130076;AK025964;AK057803;AK093762;AK125549;AK290994;AMYH01007928;AMYH01007929;AY131227;AY373756;AY533563;AY726574;BC007975;BC017437;BC025283;BC031340;BC041059;BC041585;BC052290;BC058001;BC069013;BQ957747;CH471184;DA172996;NG_032003;NM_001256182;NM_001256183;NM_013275;NR_045839 AAF24125;AAH41585;AAH58001;AAH69013;AAN07913;AAR25661;AAS45544;BAD92423;BAF83683;EAW66731;EAW66732;EAW66733;EAW66734;NP_001243111;NP_001243112;NP_037407;Q6UB99 Hs.335003;Hs.740440 1336575;1339964;1660633;1668203;1673048;1679325;1699382;1720567;1754325;1761807;1762643;1764745;1766629;2109037;2157314;2172433;2185581 ANKRD11_9583;D16S3026;D16S3121;G59238;HSC05E102;RH103278;RH65545;RH69658;RH80169;SHGC-132354;SHGC-145765;SHGC-146447;SHGC-148326;SHGC-149926;SHGC-60547;SHGC-60644;SHGC-64125 ANCO-1;ANCO1;KBGS;LZ16;T13 ankyrin repeat domain-containing protein 11;ankyrin repeat-containing cofactor 1;ankyrin repeat-containing protein 11;nasopharyngeal carcinoma susceptibility protein APPROVED protein-coding ENSG00000167522 21316 12456 148050;611192 REVIEWED 1318431 ANKRD13A ankyrin repeat domain 13A 12 12 12 q24.11 110061469 110101471 + 108921618 108961620 + 110437235 110477237 + 6480464 15489334;15231748;14702039;12477932;10508479;16196087;20639865;21903422;21987572;21139048;21890473;21906983;19322201;22298428;21963094;23000965;23319000;22053931;22190034;22505724 88455 B3KMT9;B3KT78;F8VXL4;F8VZZ3;H0YIN8;Q3ZTS7;Q8IZ07;Q9Y5A3 ABBA01005084;ABBA01005085;AC007546;AC084876;AF064604;AF155103;AK022658;AK025261;AK095130;AK130522;AK293232;AK302535;AK308923;AMYH01004738;AY364251;BC032833;BC057817;CH471054;NM_033121 AAC17109;AAD42869;AAH32833;AAQ76810;BAG51101;BAG52990;BAG56771;BAG63807;EAW97891;EAW97892;EAW97893;NP_149112;Q8IZ07 Hs.528703 1645417;1645775;2146324;2169768;2181302;5014019;5024761 D5S2354;RH36905;RH44722;SGC30598;SGC33766;SHGC-53833;WI-20847 ANKRD13;NY-REN-25 NY-REN-25 antigen;OTTHUMP00000240752;ankyrin repeat domain 13;ankyrin repeat domain-containing protein 13A protein-coding ENSG00000076513 21268 12458 615123 VALIDATED 1606740 ANKRD13B ankyrin repeat domain 13B 17 17 17 q11.2 24781393 24802648 + 24944653 24965905 + 27920527 27941779 + 6480464 16344560;15489334;14702039;12477932;16169070;22298428;21139048;21890473;20881960 124930 B3KS27;K7EKP0;K7ENT0;Q86YJ7 ABBA01015012;ABBA01015013;AC104564;AK000425;AK092673;AK097716;AK098421;AMYH01008292;AMYH01008293;BC032554;BC062597;BG029526;CH471159;DA445860;NM_152345 AAH32554;AAH62597;BAC05148;BAC05304;BAG52589;EAW51199;EAW51200;EAW51201;EAW51202;EAW51203;NP_689558;Q86YJ7 Hs.662164 1736694;2174115 D17S1512E;RH46400 FLJ20418;FLJ25555 OTTHUMP00000163607;OTTHUMP00000163608;ankyrin repeat domain-containing protein 13B protein-coding ENSG00000198720 26363 08694 615124 VALIDATED 1605234 ANKRD13D ankyrin repeat domain 13 family, member D 11 11 11 q13.2 64368966 64402594 + 66813395 66826530 + 67056762 67069955 + 6480464 17081983;16713569;15489334;14702039;12477932;19913121;20628086;16344560;21832049;21987572;19953087;21139048;21890473;22298428 338692 Q6ZTN6 ABBA01024041;AK027313;AK057566;AK057681;AK091614;AK096277;AK124721;AK126438;AMYH01003742;AMYH01003743;AP001885;BC044239;BC110419;BC121024;BC121025;CH471076;DA870287;DB460018;NM_207354;NR_030767 AAH44239;AAI10420;AAI21025;AAI21026;BAC85932;BAC86550;BAG51301;BAG51952;EAW74583;EAW74584;EAW74585;EAW74586;NP_997237;Q6ZTN6 Hs.438673 2113958;2155198;2156868;2177282;2191167;5014051;5015861;5016478;5020946;5022576;5022578;5022651;5024039;5024272;5037552;5492139;7185938 ADRBK1;D10S16;D11S2921;D16S325;D1S1361;D1S1423;D2S1254;D8S2278;D8S2279;GDB:434012;L17971;MARC_15697-15698:1013523581:1;RH45377;STS-W92216;WI-15244;adrbk1sts1 MGC50828 OTTHUMP00000222934;OTTHUMP00000222935;OTTHUMP00000236816;ankyrin repeat domain-containing protein 13D protein-coding ENSG00000172932 27880 17349 615126 VALIDATED 1322851 ANKRD16 ankyrin repeat domain 16 10 10 10 p15.1 5834082 5862252 - 5943695 5971352 - 5903689 5931860 - 6480464 15489334;15164054;14702039;12477932;17207965;20453838;23251661 54522 Q6P6B7 AA431197;ABBA01034770;ABBA01034771;AI738771;AK093489;AK094497;AK129672;AL137186;AL137614;AL596094;AMYH01002002;AW470888;AW630443;BC017324;BC062346;BC067892;CH471072;NM_001009941;NM_001009943;NM_019046 AAH62346;ADQ32142;CAB70843;EAW86429;NP_001009941;NP_001009943;NP_061919;Q6P6B7 Hs.289828 1675911;1722107;1780080;1850956;2218992;5015619;5022578;5022651;5037552 ANKRD16__4307;D10S1596;D11S2921;D11S3114;D1S1423;D8S2279;G60095;RH92268;SHGC-154401 OTTHUMP00000019019;OTTHUMP00000019020;OTTHUMP00000216165;ankyrin repeat domain-containing protein 16 protein-coding ENSG00000134461 23471 12459 VALIDATED 1604586 ANKRD13C ankyrin repeat domain 13C 1 1 1 p32.3-p31.3 69014622 69110347 - 70500129 70592993 - 70724685 70820417 - 6480464 12477932;11256614;16710414;16381901;15489336;15489334;14702039;11076863;8889548;11230166;20959461;21906983 81573 Q8N6S4 ABBA01074483;ABBA01074484;ABBA01074485;ABBA01074486;ABBA01074487;AK074187;AL136717;AL158839;AL353771;AL354721;AMYH01000699;BC016937;BC028840;BU622247;CD000035;CH471059;CK299538;NM_030816 AAH16937;AAH28840;BAG51959;CAB66651;CAL37790;CAL38346;EAX06456;EAX06457;NP_110443;Q8N6S4 Hs.105016 1654662;1676956;1682457;1692284;1698546;1715355;1770609;2151996;2181652;2185674 AL009311;AL033802;RH102825;RH120509;RH48351;RH92420;RH92699;SHGC-52664;WI-14729;WI-21498 DKFZp566D1346;FLJ14998;RP4-677H15.5;dJ677H15.3 OTTHUMP00000010939;OTTHUMP00000010940;ankyrin repeat domain-containing protein 13C protein-coding 25374 13176 615125 VALIDATED 6480412 ANKRD18EP ankyrin repeat domain 18E, pseudogene 6 p21.2 39078100 39080695 + 100131031 ABBA01038308;AL035690;AMYH01016288;CH471081;NG_028818 EAX03978 uncharacterized protein LOC100131031 pseudo 43609 INFERRED 1607057 ANKRD17 ankyrin repeat domain 17 This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies in mice suggest that this protein is involved in liver development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 71296572 71480590 - 74159366 74343366 - 73940502 74124502 - 6480464 22328336;15302935;14702039;14557257;12747765;12477932;11740861;11165478;9734811;8889548;17609381;19615732;20200953;20379614;20936779;19815555;20682791;22558309;21139048;22586326;18029348;22190034 26057 E7EUV3;H0YLQ3;H0YM23;H0YMS3;Q9H288 AB014597;ABBA01022984;ABBA01022985;ABBA01022986;ABBA01022987;AC053527;AC095053;AC105757;AF308285;AI680274;AK025859;AK055209;AK096518;AK299046;AK300302;AK307581;AL831903;AL833287;AMYH01014296;AMYH01014297;AMYH01014298;BC004173;BC004891;BC007747;BC009043;BC019963;BC029935;BC043394;BU608983;BU687888;BX648035;CD690889;CH471057;NM_032217;NM_198889 AAG48253;AAH04173;AAH07747;AAH19963;AAH43394;AAI46383;BAA31672;BAB15260;BAG53312;BAG61120;BAG62055;CAD38571;EAX05654;EAX05655;EAX05656;EAX05657;EAX05658;NP_115593;NP_942592;O75179 Hs.601206;Hs.743705 1660062;1672565;1774202;1788736;1847496;1853526;2117397;2125412;2130392;2134043;2143450;2155019;2174201;2187098;5096751 D4S2838;D4S844;D4S872;G34305;G34416;G34499;RH127459;RH35831;SGC33720;SGC38257;SHGC-24711;SHGC-67820;SHGC4-1565;WI-11060;WI-16604 FLJ22206;GTAR;KIAA0697;NY-BR-16 OTTHUMP00000219059;OTTHUMP00000219060;OTTHUMP00000219061;ankyrin repeat domain-containing protein 17;gene trap ankyrin repeat protein;serologically defined breast cancer antigen NY-BR-16 APPROVED protein-coding ENSG00000132466 23575 10648 REVIEWED 1352126 ANKRD18A ankyrin repeat domain 18A 9 9 9 p13.1 38507268 38556673 - 38533250 38610541 - 38571361 38620360 - 6480464 14702039;12477932;16344560;20618440;21906983;23131552 253650 H3BPE5;H3BTJ1;Q8IVF6;Q8NA88;R4GN29 AB095935;ABBA01050374;ABBA01050375;AK093059;AL390726;AL591543;AL834388;AMYH01019367;AY550933;BC056266;BC131497;BC152434;BQ787286;BX280525;DB066861;NM_147195 AAH56266;AAI52435;AAS57859;BAC04038;BAC23111;NP_671728;Q8IVF6 Hs.644630 2162134 RH12064 FLJ35740;FLJ40632;KIAA2015;MGC176674 OTTHUMP00000021402;ankyrin repeat domain-containing protein 18A protein-coding ENSG00000180071 23643 13419 VALIDATED 5684153 ANKRD18CP ankyrin repeat domain 18C, pseudogene 9 q22.33 99983865 99999969 - 12477932 100287922 ABBA01042937;AK098764;AK309476;AL590705;AMYH01021551;AMYH01021552;CD644713;CD709196;XR_132563;XR_133528;XR_171802 Hs.638367;Hs.648180 1679874;1682057;1685496;1709398;5037552 D8S2279;RH45881;RH65315;RH69285;SHGC-81723 FLJ25898;FLJ99517 pseudo ENSG00000159712 43601 MODEL 1343235 ANKRD20A1 ankyrin repeat domain 20 family, member A1 9 9 q13 67516581 67559660 + 67926761 67969840 + 6480464 15164053;11230166;11076863;11256614;16381901;15489336 84210 Q5TYW2 AL136793;AMYH01020306;AMYH01021197;AMYH01021198;AMYH01021199;AMYH01021200;AMYH01021201;AMYH01021202;AMYH01021203;AMYH01021204;AMYH01021205;AMYH01021206;AMYH01021207;AMYH01021208;AMYH01021209;AMYH01021210;AMYH01021211;AMYH01021212;AMYH01021213;BX649567;NM_032250;XM_003960452 AAI46682;CAB66727;CAL38009;NP_115626;Q5TYW2;XP_003960501 Hs.632671 ANKRD20A;DKFZp434A171 OTTHUMP00000032570;ankyrin repeat domain-containing protein 20A1 protein-coding ENSG00000196774 23665 10649 PROVISIONAL 6480411 ANKRD20A13P ankyrin repeat domain 20 family, member A13, pseudogene 1 q21.1 143209382 143213259 - 100132733 AMYH01001014;BX571672;NG_029281 1758537 SHGC-148652 pseudo 43604 INFERRED 6480383 ANKRD20A14P ankyrin repeat domain 20 family, member A14, pseudogene 1 142823386 142827232 + 100533719 AMYH01001005;BX572084;NG_028834 pseudo 43605 INFERRED 5129379 ANKRD20A10P ankyrin repeat domain 20 family, member A10, pseudogene 13 13 6389169 6389736 - 25325904 25326471 - 100421422 ABBA01007894;AL391560;AMYH01004976;NG_024841 1730215;7184676 D13S179E ANKRD20A4P1 APPROVED pseudo 39707 INFERRED 6480384 ANKRD20A15P ankyrin repeat domain 20 family, member A15, pseudogene 1 143375107 143378961 + 100533720 BX004987;NG_028835 pseudo 43606 INFERRED 6480404 ANKRD20A16P ankyrin repeat domain 20 family, member A16, pseudogene 21 9765961 9769809 + 100421427 AMYH01012122;CR381670;NG_025049 pseudo 43607 INFERRED 6480405 ANKRD20A17P ankyrin repeat domain 20 family, member A17, pseudogene 4 49504165 49508042 - 100421363 AC119751;AMYH01014169;NG_025102 pseudo 43608 INFERRED 1605802 ANKRD18DP ankyrin repeat domain 18D, pseudogene 3 3 3 q29 196399188 196422329 - 199268799 199291939 - 197784402 197807542 - 12477932;21906983 348840 ABBA01007556;AC073135;AK125940;AMYH01013810;BC042518;BC053879;CH471252;NR_003291 EAW92257;EAW92258 Hs.512227 1722837 G60360 APPROVED pseudo ENSG00000226435 28016 14181 PROVISIONAL 1351862 ANKRD18B ankyrin repeat domain 18B 9 9 9 p13.3 33454000 33502434 + 33513927 33566909 + 33524411 33573001 + 12477932;21906983 441459 A2A2Z9;A2A300;R4GNB3 ABBA01065047;ABBA01065048;AL139008;AMYH01019324;BC009440;BF103989;DB512460;DW421358;DW441346;NM_001244752 A2A2Z9;NP_001231681 Hs.493710 bA255A11.3;bA255A11.5 OTTHUMP00000195020;ankyrin repeat domain 18B;ankyrin repeat domain-containing protein 18B protein-coding ENSG00000230453 23644 18466 INFERRED 1343328 ANKRD20A18P ankyrin repeat domain 20 family, member A18, pseudogene 21 21 21 q11.2 593740 598609 + 14350817 14363285 + 15436540 15441409 + 391269 ABBA01057078;AMYH01012140;AP001347;NG_009314 C21orf126 APPROVED pseudo 23756 INFERRED 1625836 ANKRD20A20P ankyrin repeat domain 20 family, member A20, pseudogene 9 9 q21.11 68715488 68738681 + 69423200 69448577 + 728788 CR769776;NG_016332 CCDC29 APPROVED pseudo 32319 INFERRED 1604144 ANKRD20A19P ankyrin repeat domain 20 family, member A19, pseudogene 13 13 13 q12.12 5578100 5584790 - 23413070 23420113 - 24481423 24523454 - 19851299 400110 Q6ZRH4 ABBA01007883;AK127292;AK128225;AL445985;AMYH01004971;CH471075;NR_073430;XM_003846335;XM_003846336;XM_003846566;XM_003846567;XM_003960524;XM_003960525 BAC86920;BAC87336;EAX08330;Q6ZRH4;XP_003846383;XP_003846384;XP_003846614;XP_003846615;XP_003960573;XP_003960574 Hs.744780 5022649 D11S2875 FLJ46358 FLJ46358 protein;ankyrin repeat domain 20 family, member A19, pseudogene;hypothetical protein LOC400110;putative uncharacterized protein FLJ46358 APPROVED pseudo 42737 13533 VALIDATED 1625837 ANKRD20A4 ankyrin repeat domain 20 family, member A4 9 9 q21.11 68671801 68714929 + 69381981 69425109 + 15164053;16751776 728747 Q4UJ75 AK307323;AMYH01021246;CR769776;DQ576528;NM_001098805 NP_001092275;Q4UJ75 Hs.645502 OTTHUMP00000069774;ankyrin repeat domain-containing protein 20A4 protein-coding ENSG00000172014 31982 PROVISIONAL 3539631 ANKRD20A6P ankyrin repeat domain 20 family, member A6, pseudogene Y Y q11.1 11789294 11790115 + 13329294 13330115 + 728157 AC134878;NG_022981 pseudo 37714 INFERRED 4144668 ANKRD20A7P ankyrin repeat domain 20 family, member A7, pseudogene 9 9 p11.2 43986669 44058721 - 44075380 44118556 - 653436 ABBA01033776;AMYH01020306;CR848007;NG_012726 pseudo 31980 INFERRED 1604746 ANKRD19P ankyrin repeat domain 19, pseudogene 9 9 9 q22.31 66013959 66042818 + 94611301 94640563 + 95571893 95600739 + 15489334;15164053;14702039;12477932 138649 Q9H560 ABBA01018596;AK093497;AK292218;AL136981;AMYH01021510;BC028712;BC038951;BC117367;BC171729;CH471089;DB449690;NR_026868 AAH38951;AAI17368;AAI71729;BAF84907;EAW62830;EAW62831;EAW62832;EAW62833 Hs.643597 1771686;2181135 RH48561;RH78225 ANKRD19;FLJ36178;bA526D8.2 APPROVED pseudo ENSG00000187984 22567 16490 VALIDATED 1351764 ANKRD20A8P ankyrin repeat domain 20 family, member A8, pseudogene 2 2 2 q11.1 89777074 89873221 - 94790400 94886547 - 95426673 95522820 - 729171 Q5CZ79 ABBA01003581;ABBA01003582;ABBA01003583;ABBA01003584;ABBA01003585;ABBA01003586;ABBA01003587;ABBA01003588;AC073464;AC097374;AMYH01010682;CR936649;NR_003366 CAI56787;Q5CZ79 Hs.456852 ANKRD20B;DKFZp686H1631 APPROVED pseudo 23666 VALIDATED 6480986 ANKRD20A12P ankyrin repeat domain 20 family, member A12, pseudogene 1 142697421 142713605 - 12477932;14702039;16710414;21906983 100874392 Q8NF67 ABBA01155013;AK090412;AL583842;AMYH01001004;BC022380;NR_046228 BAC03393;Q8NF67 Hs.648245 FLJ00310 pseudo 43603 VALIDATED 1604891 ANKRD20A2 ankyrin repeat domain 20 family, member A2 9 9 p12 42358299 42401406 + 42368303 42411410 + 6480464 15164053;12477932 441430 Q5SQ80 AL773545;AMYH01020049;AMYH01020050;AMYH01020051;AMYH01020052;AMYH01020053;AMYH01020054;AMYH01020055;AMYH01020056;AMYH01020057;AMYH01020058;BX664727;NM_001012421 NP_001012421;Q5SQ80 Hs.632663 MGC176486 OTTHUMP00000064580;ankyrin repeat domain 20 family, member A2;ankyrin repeat domain-containing protein 20A2 protein-coding ENSG00000183148 31979 18652 VALIDATED 5133096 ANKRD20A9P ankyrin repeat domain 20 family, member A9, pseudogene 13 13 q11 18306848 18357591 - 19408543 19446109 - 6480464 10737800;8889548 284232 ABBA01068539;AL355516;AL391382;AMYH01004934;BJ991373;DW423875;NR_027995 Hs.679496;Hs.694496;Hs.742626 1701216;1748423;2155495 G64223;RH104236;RH36536 pseudo 42023 PROVISIONAL 1312939 ANKRD2 ankyrin repeat domain 2 (stretch responsive muscle) ANKRD2 belongs to the conserved muscle ankyrin repeat protein (MARP) family. Expression of MARPs is induced in response to physiologic stress, injury, and hypertrophy (Miller et al., 2003 [PubMed 14583192]).[supplied by OMIM, Mar 2008] 10 10 q23 99322246 99333631 + 99332256 99343641 + 1580863;6480464 11444853;17206105;16344560;16021567;15677738;15489334;15164054;15136035;14702039;14583192;12679596;12477932;12004005;11972353;11453652;10873377;1204005;16385451;20211142;22185618;21737686;22016770;18029348 26287 Q5T457;Q9GZV1 AB058599;ABBA01021800;AJ249975;AJ304804;AJ304805;AJ346356;AJ583444;AK056990;AK314763;AL355315;AL359388;AMYH01002978;BC020817;BC107759;CH471066;DA893829;NM_001129981;NM_020349 AAH20817;AAI07760;BAB60958;BAG37301;CAB99416;CAC19411;CAC19412;CAE47432;EAW49916;EAW49917;NP_001123453;NP_065082;Q9GZV1 Hs.73708 1684526;2137905;2153196;2220490 RH41894;RH48677;RH99032;UniSTS:483548 ARPP;MGC104314 OTTHUMP00000020219;OTTHUMP00000020220;ankyrin repeat domain-containing protein 2;ankyrin-repeat protein;hArpp;skeletal muscle ankyrin repeat protein APPROVED protein-coding ENSG00000165887 495 12460 610734 VALIDATED 1604892 ANKRD20A3 ankyrin repeat domain 20 family, member A3 9 9 9 p12 89829797 89873428 - 43079968 43123540 - 43089972 43133544 - 15164053;12477932 441425 B2RTT7;K7EJ15;Q5VUR7 AL513478;AMYH01020203;AMYH01020204;AMYH01020205;AMYH01020206;AMYH01020207;AMYH01020208;AMYH01020209;AMYH01020210;AMYH01020211;AMYH01020212;AMYH01020213;AMYH01020214;AMYH01020215;AMYH01020216;BC140809;BC171793;NM_001012419 AAI40810;AAI67832;AAI71793;NP_001012419;Q5VUR7 Hs.632663 MGC176486;MGC198508 OTTHUMP00000015360;ankyrin repeat domain 20A-related;ankyrin repeat domain-containing protein 20A3 protein-coding ENSG00000132498 31981 17405 PROVISIONAL 5129398 ANKRD26P2 ankyrin repeat domain 26 pseudogene 2 13 13 13 q13.3 20537488 20564271 - 38381465 38408241 - 39483365 39510341 - 646929 ABBA01021319;AL354819;AL445590;AL607149;AMYH01005045;NG_006568 1339884;1759775;1764029;1764033;1771620;1782954 AFMa130xc9;D13S1288;SHGC-147683;SHGC-147695;SHGC-150887;SHGC-156230 KIAA1074 pseudo 39687 INFERRED 2304149 ANKRD20A5P ankyrin repeat domain 20 family, member A5, pseudogene 18 18 18 p11.21 14058762 14106133 + 14169096 14175390 + 14179096 14227049 + 15489334;15342556;12477932 440482 A0PJZ0 ABBA01074044;AMYH01008855;AP001004;BC022023;BC127726;BP201899;CH471113;DB446908;NR_040113 A0PJZ0;AAH22023;AAI27727;EAX01494;EAX01495;EAX01496 Hs.632352 2155495 RH36536 ANKRD20A5;MGC26718 Putative ankyrin repeat domain-containing protein 20A-like protein MGC26718;ankyrin repeat domain 20 family, member A5;ankyrin repeat domain-containing protein 20A-like protein MGC26718;putative ankyrin repeat domain-containing protein 20A5 APPROVED pseudo ENSG00000186481 33833 VALIDATED 1317302 ANKRD22 ankyrin repeat domain 22 10 10 10 q23.31 84326476 84358565 - 90569636 90601712 - 90579656 90611732 - 737633;6480464 12477932 22318606;16344560;16341674;15489334;15164054;8889549;16385451;20379614;17207965;20211142 118932 Q5VYY1 ABBA01021953;AK313969;AL157394;AL353113;AMYH01002933;BC021671;BM785517;CH471066;CS300545;DA672161;N95187;NM_144590 AAH21671;ADQ33206;BAG36684;CAK32209;EAW50159;NP_653191;Q5VYY1 Hs.217484 1665889;1670713;1710446;1740635;2130296 D20S990;RH47202;SHGC-32791;SHGC-57024;SHGC-82521 MGC22805 OTTHUMP00000020041;ankyrin repeat domain-containing protein 22 protein-coding 28321 12461 VALIDATED 6481446 ANKRD26P4 ankyrin repeat domain 26 pseudogene 4 13 31885422 31887065 + 100873882 ABBA01010123;AL138965;AMYH01005017;NG_032348 pseudo 39690 INFERRED 1322819 ANKRD24 ankyrin repeat domain 24 19 19 19 p13.3 4122806 4164282 + 4134351 4175811 + 4183351 4224811 + 6480464 15146197;12477932;11853319;16169070;20936779 170961 M0QZ18;M0R0N9;Q8TF21 AB075861;ABBA01056081;ABBA01056082;ABBA01056083;AC005578;AC006930;AMYH01009328;AMYH01009329;BC028236;BI914435;BX117359;BX359277;CN286920;NM_133475 AAC33490;AAD15479;BAB85567;NP_597732;Q8TF21 Hs.197872 KIAA1981 ankyrin repeat domain-containing protein 24 protein-coding ENSG00000089847 29424 PROVISIONAL 1602441 ANKRD26P1 ankyrin repeat domain 26 pseudogene 1 16 16 16 q11.2 31011416 31111174 - 45065535 45109391 - 46503249 46603009 - 12477932;11181995 124149 Q6NSI1;Q6ZU59 ABBA01013774;ABBA01013775;ABBA01013776;AC092368;AC106819;AK125968;AMYH01007640;BC070117;BX648636;CD000265;CH471092;CR749347;NR_026556 BAC86367;CAH18200;EAW82764;Q6NSI1 Hs.97414 1681636;1753325 RH92015;SHGC-68819 DKFZp781D1722;FLJ43980;MGC87661 pseudo 32955 13482 VALIDATED 5129292 ANKRD26P3 ankyrin repeat domain 26 pseudogene 3 13 13 13 q12.11 898817 980968 - 18757168 18806424 - 19836940 19919113 - 11181995;12477932 100101938 ABBA01068552;ABBA01068553;ABBA01068554;AL139327;AL356259;AMYH01004936;BC036210;CH471075;NR_027248 EAX08214 Hs.129283 1758509 SHGC-148527 KIAA1074;LINC00414 pseudo 39689 VALIDATED 1350593 ANKRD30A ankyrin repeat domain 30A 10 10 p11.21 37454791 37561501 + 37414785 37521495 + 1580863;6480464 15164054;11280766;18029348;19043545;18464913;18041742;17903294;17536312;17330232;16675566;16335914;15342556;16385451;23314748;21906983;22699663 91074 Q5W026;Q9BXX3;R4GNA2 ABBA01033304;ABBA01033305;AC067744;AF269087;AL157387;AL357148;AMYH01002252;AMYH01002253;AMYH01002254;AMYH01002255;AMYH01002256;AMYH01002257;AMYH01002258;AMYH01002259;BP312910;CH471072;DN831985;NM_052997 AAI72447;AAK27325;EAW85904;NP_443723;Q9BXX3 Hs.373787 1703484 SHGC-82599 NY-BR-1;RP11-20F24.1 OTTHUMP00000019457;OTTHUMP00000019458;ankyrin repeat domain-containing protein 30A;breast cancer antigen NY-BR-1;serologically defined breast cancer antigen NY-BR-1 protein-coding ENSG00000148513 17234 10125 610856 VALIDATED 1321281 ANKRD23 ankyrin repeat domain 23 This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation. [provided by RefSeq, Jul 2008] 2 2 2 q11.2 91943786 91949893 - 96867378 96873485 - 97503651 97509758 - 1580863;2314858;2314859;6480464 15238456;12456686 15815621;15489334;14702039;14583192;12477932;10737800;18029348 200539 Q86SG2;Q96MF3 ABBA01036575;AC092636;AF492401;AJ315766;AK057011;AK092564;AMYH01010726;AY196212;BC038584;BC107056;BF827606;CH471207;NM_144994 AAI07057;AAO24067;AAO40750;AAY14965;BAB71342;BAC03915;CAC86120;EAW71331;EAW71332;EAW71333;NP_659431;Q86SG2 Hs.643430 1853247;2119172;2182517 RH41816;RH46431;SHGC-56804 DARP;FLJ32449;MARP3;MGC129593 OTTHUMP00000161094;OTTHUMP00000207608;OTTHUMP00000207609;ankyrin repeat domain-containing protein 23;diabetes related ankyrin repeat protein;diabetes-related ankyrin repeat protein;muscle ankyrin repeat protein 3 APPROVED protein-coding ENSG00000163126 24470 12462 610736 REVIEWED 1350728 ANKRD30BP1 ankyrin repeat domain 30B pseudogene 1 21 21 q11.2 13678381 13783368 - 14756163 14800096 - 642460 ABBA01030838;AL050302;AMYH01012131;NG_009612 1695616;1729604;1730632;1731337;1759837;1857640 D21S215;D21S308;D21S369;G48498;SHGC-170076;SHGC-51833 ANKRD30BP;C21orf110;PRED4 APPROVED pseudo 19722 INFERRED 1316102 ANKRD27 ankyrin repeat domain 27 (VPS9 domain) 19 19 19 q13.11 29781556 29859734 - 37779747 37857942 - 33087907 33166102 - 737633;1580863;6480464 12477932 16525121;11256614;18477474;16381901;15498874;15489336;15489334;15231748;14702039;11230166;11076863;19745841;19913121;20628086;23104059;21139048;21906983;23377640 84079 K7EIH4;K7EIN0;K7ELM1;K7ENE0;K7EPM2;Q96NW4 AA903176;ABBA01039596;ABBA01039597;ABBA01039598;ABBA01039599;AC008474;AF447882;AK054561;AL136784;AL834335;AMYH01009696;BC015552;BC045605;BC050529;BI462844;NM_032139 AAH50529;AAQ04657;BAB70755;CAB66718;CAD39003;CAL38738;NP_115515;Q96NW4 Hs.59236 1734658;1767560 D19S607;D19S661E DKFZP434L0718;FLJ00040;PP12899;VARP VPS9 domain-containing protein;VPS9-ankyrin-repeat protein;Vps9 domain and ankyrin-repeat-containing protein;ankyrin repeat domain-containing protein 27 protein-coding ENSG00000105186 25310 10650 VALIDATED 1314711 ANKRD26 ankyrin repeat domain 26 This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 10 p12.1 27009534 27105923 - 27333051 27429433 - 27293045 27389427 - 6480464;7240710 17081983;16344560;15489334;15203218;15164054;14702039;12477932;10470851;21211618;20877624;22990118;21467542;21282530;22118674 22852 E7ESJ3;H0Y4T9;Q9UPS8 AB028997;ABBA01034403;ABBA01034404;AK001137;AK128577;AL137351;AL162063;AL162272;AMYH01002204;BC110646;BC130453;CD626319;CH471072;DA712092;DB228067;NG_031973;NM_001256053;NM_014915 AAI10647;AAI30454;BAA83026;BAA91516;BAC87508;CAB70706;CAB82401;EAW86073;NP_001242982;NP_055730;Q9UPS8 Hs.361041 1735990;2125290;2183690 D10S1279E;RH70636;WI-16405 KIAA1074;MGC163325;THC2;bA145E8.1 OTTHUMP00000019356;ankyrin repeat domain-containing protein 26 APPROVED protein-coding ENSG00000107890 29186 16491 188000;610855 REVIEWED 1317259 ANKRD29 ankyrin repeat domain 29 18 18 18 q11.2 17996135 18059022 - 19433975 19496849 - 21179977 21242849 - 737633;6480464 12477932 15489334;14702039;8889548;17207965 147463 C9IZK0;K7EL63;K7EQM1;Q8N6D5 ABBA01022627;ABBA01022628;ABBA01022629;ABBA01022630;ABBA01022631;ABBA01022632;AC010853;AK057782;AK123197;AK313667;AMYH01008887;BC030622;BM680506;CH471088;NM_173505 AAH30622;ADQ31854;BAB71569;BAC85555;BAG36419;EAX01159;EAX01160;NP_775776;Q8N6D5 Hs.374774 1672868;1672903;1731737;2151545;2171454 D18S511;G22474;HSCZUA082;RH11997;WI-14696 FLJ25053 OTTHUMP00000162701;ankyrin repeat domain-containing protein 29 protein-coding ENSG00000154065 27110 12464 VALIDATED 1354207 ANKRD30B ankyrin repeat domain 30B 18 18 18 p11.21 383 101344 - 14738239 14844028 + 14748239 14852737 + 6480464 12477932;11280766 374860 Q9BXX2 AADB02020312;AADB02020314;AADB02020315;AADB02020317;ABBA01074081;AF269088;AK294693;AMYH01008862;AMYH01008863;AMYH01008864;AMYH01008865;AP005121;AP006507;AP006564;AP006565;BC028407;CH471277;NM_001145029 AAK27326;BAG57852;EAW53959;NP_001138501;Q9BXX2 Hs.567889 1695616;1729604;1731337;1759837;5022578 D1S1423;D21S215;D21S369;G48498;SHGC-170076 NY-BR-1.1 ankyrin repeat domain-containing protein 30B;breast cancer antigen NY-BR-1.1;serologically defined breast cancer antigen NY-BR-1.1 protein-coding ENSG00000180777 24165 VALIDATED 1343361 ANKRD28 ankyrin repeat domain 28 3 3 3 p25.1 15646877 15840010 - 15683747 15876057 - 15708743 15901053 - 6480464 17928403;18186651;19118547;17023142;16564677;14743216;14702039;12477932;12168954;9205841;15146197;19596235;19615732;22863883;22990118;21187329;21139048;21890473;22586326;19380743 23243 B4DIW9;F8WDU2;O15084 AB002377;ABBA01025136;ABBA01025137;AC090945;AC090950;AI565587;AK126888;AK293770;AK295813;AK299540;AMYH01013002;AY367056;BC035170;BC048975;BC064513;BC080522;BC106948;BC113868;BC114476;BQ423818;CH471055;CN313636;NM_001195098;NM_001195099;NM_015199 AAI06949;AAI13869;AAI14477;AAI66612;AAQ72374;BAA20833;BAC86737;BAG57186;BAG58631;BAG61487;EAW64257;EAW64258;EAW64259;EAW64260;EAW64261;EAW64262;EAW64263;EAW64264;EAW64265;NP_001182027;NP_001182028;NP_056014;O15084 Hs.335239 1336766;1754161;1779014;2140679;2160571;2218220;5014051;5019219;7185155 ANKRD28__4312;D3S1286;D8S2278;DXS7953;SGC30737;SHGC-132190;SHGC-14778;SHGC-76750 KIAA0379;PITK;PPP1R65 OTTHUMP00000207863;OTTHUMP00000207865;OTTHUMP00000208043;PP6-ARS-A;ankyrin repeat domain-containing protein 28;phosphatase interactor targeting K protein;phosphatase interactor targeting protein hnRNP K;protein phosphatase 1, regulatory subunit 65;protein phosphatase 6 ankyrin repeat subunit A;serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A;serine/threonine-protein phosphatase 6 regulatory subunit ARS-A protein-coding ENSG00000206560 29024 10651 611122 VALIDATED 1354086 ANKRD31 ankyrin repeat domain 31 5 5 5 q13.3 70258290 70426854 - 74477548 74568459 - 74364122 74532703 - 6480464 14702039;22952603 256006 D6RJB7;H0YAM5;Q8N7Z5 ABBA01061941;ABBA01061942;AC008769;AC093259;AK097510;AMYH01015408;AMYH01015409;NM_001164443 BAC05081;NP_001157915;Q8N7Z5 Hs.482533 1338742;1339587;1690570;1699120;1779202;1780180;1857253;2144805;2175013 AFMa106we5;D5S1351;D5S2003;D5S2643;RH103136;RH75379;SHGC-150778;SHGC-154551;STS-AA010697 FLJ40191 ankyrin repeat domain-containing protein 31;putative ankyrin repeat domain-containing protein 31 protein-coding ENSG00000145700 26853 INFERRED 6481081 ANKRD33B-AS1 ANKRD33B antisense RNA 1 100874247 AC106760 APPROVED miscrna 41298 2303829 ANKRD30BL ankyrin repeat domain 30B-like 2 2 2 q21.2 126625218 126734890 - 132621646 132636004 - 132905164 133015542 - 17114284;15197164;12477932 554226 A7E2S9 ABBA01028222;ABBA01028223;ABBA01028224;AC097532;AC098826;AMYH01011105;AMYH01011106;AMYH01011107;AMYH01011108;AMYH01011109;BC029821;BC045801;BC057764;BC150521;BG719107;CF272540;CH471058;CR747466;NR_027019;NR_027020 A7E2S9;EAX11681 Hs.380689 1711454;1793006 G47279;PMC18377P1 ANKRD30BP3;NCRNA00164 APPROVED pseudo ENSG00000163046 35167 VALIDATED 6480966 ANKRD33B-IT1 ANKRD33B intronic transcript 1 (non-protein coding) 100874376 AC106760 miscrna 41506 7206963 ANKRD30BP3 ankyrin repeat domain 30B pseudogene 3 10 q11.21 45650110 45681489 + 12477932 338579 ABBA01050025;AK098688;AL358394;AL512324;AMYH01002298;BC031237;BC043208;NR_033891 AAH31237;BAC05379 Hs.666134 1782120;5020881;5037552 D8S2279;L17709;SHGC-155154 pseudo 27873 VALIDATED 2307384 ANKRD33B ankyrin repeat domain 33B 5 5 5 p15.2 10602518 10695071 + 10615464 10703225 + 10564435 10657928 + 6480464 15372022;14702039 651746 A6NCL7;D6R912 ABBA01020604;ABBA01020605;AC106760;AC112200;AF056441;AK023999;AMYH01014905;BC018597;NM_001164440 A6NCL7;NP_001157912 Hs.26039 1763237;2174939 A006S19;SHGC-146966 Ankyrin repeat domain-containing protein LOC651746;OTTHUMP00000221154;ankyrin repeat domain-containing protein 33B protein-coding 35240 VALIDATED 2291762 ANKRD34C ankyrin repeat domain 34C 15 15 15 q25.1 56511721 56527148 + 77372682 77374891 + 79575146 79590581 + 14702039 390616 P0C6C1 ABBA01060605;AC011797;AK090665;AK127037;AL109678;AMYH01006845;NM_001146341 NP_001139813;P0C6C1 Hs.531231 1646250;1783186 SHGC-142380;WI-15561 FLJ33346;FLJ45093 ankyrin repeat domain-containing protein 34C protein-coding ENSG00000235711 33888 VALIDATED 1312535 ANKRD32 ankyrin repeat domain 32 5 5 5 q15 89816284 89893469 + 94040330 94057338 + 93954391 94031573 + 6480464 15632077;12477932;11230166;21139048;21693764;22036607 84250 B4DMG4;D6RED9;H0YBU1;I6L9F1;Q9BQI6 ABBA01069268;AC008534;AC025766;AK297452;AK299080;AK309859;AL050298;AL136560;AMYH01015486;AMYH01015487;BC015315;BC054885;BC063674;BC070332;BC107571;BU431750;CH471084;CR533539;CR936768;DR001089;NM_032290 AAH54885;AAH63674;AAH70332;AAI07572;ACE86937;ACE87625;BAG59876;BAG61145;CAB43397;CAB66495;CAG38570;EAW96026;EAW96027;EAW96028;EAW96029;NP_115666;Q9BQI6 Hs.657315 1647531;1656655;1847111 A006Q05;R58928;RH12463 BRCTD1;BRCTx;DKFZp564C0469;DKFZp761C121 BRCT domain containing 1;BRCT domain-containing protein 1;OTTHUMP00000149936;ankyrin repeat domain-containing protein 32 protein-coding 25408 08538 VALIDATED 1344415 ANKRD30BP2 ankyrin repeat domain 30B pseudogene 2 21 21 21 q11.2 15126362 15128242 + 13332400 13346615 + 14410487 14490572 + 17114284;15489334;12477932;12036297 149992 ABBA01114593;AF427490;AJ239321;AMYH01012130;AP001464;BC036510;BC126176;BC126178;DQ179138;DQ179139;DQ179140;DQ179141;NR_026916 AAM53529;ABB05089 Hs.558645;Hs.579474 5037552 D8S2279 C21orf99;CT85;CTSP-1;CTSP1 APPROVED pseudo 16620 10779 PROVISIONAL 1347090 ANKRD34A ankyrin repeat domain 34A 1 1 1 q21.1 119673860 119679002 + 144181865 144187004 + 145470508 145475647 + 6480464 14702039;18029348;16344560;8889548 284615 Q69YU3 ABBA01005743;ABBA01005744;AC243547;AK094282;AK128050;AL160282;AL359622;AMYH01001373;BM723295;DA081864;NM_001039888 BAG52855;BAG54622;CAH10676;NP_001034977;Q69YU3 Hs.620591 1658744 SHGC-3211 ANKRD34;DKFZp761F202 OTTHUMP00000015577;ankyrin repeat domain 34;ankyrin repeat domain-containing protein 34A protein-coding ENSG00000181039 27639 VALIDATED 1344617 ANKRD33 ankyrin repeat domain 33 12 12 12 q13.13 51083930 51087642 + 50568011 50571705 + 52281793 52285505 + 6480464 16541075;14702039;12477932;21107309;20026326 341405 F8VTQ6;Q0VAA8;Q5K617;Q7Z3H0 ABBA01031619;AC025259;AF517108;AF517109;AF517110;AF517111;AF517112;AF517113;AF517114;AF517115;AF517116;AF517117;AF517118;AF517119;AF517120;AK125517;AMYH01004469;BC121152;BC121153;BX537908;BX640656;BX647684;BX649168;CH471111;NM_001130015;NM_182608 AAI21153;AAI21154;AAQ07989;AAQ07990;AAQ07991;AAQ07992;AAQ07993;AAQ07994;AAQ07995;AAQ07996;AAQ07997;AAQ07998;BAC86190;CAD97893;CAE45798;EAW58207;EAW58208;EAW58209;EAW58210;NP_001123487;NP_872414;Q7Z3H0 Hs.433492 2184069;5107125 G65568;SHGC-32462 C12orf7;DKFZp686O1689;PANKY OTTHUMP00000241374;OTTHUMP00000241376;ankyrin repeat domain-containing protein 33 protein-coding ENSG00000167612 13788 12465 VALIDATED 1604706 ANKRD34B ankyrin repeat domain 34B 5 5 5 q14.1 75753876 75767603 - 79888330 79901854 - 79852574 79866304 - 6480464 12477932;15358210 340120 A5PLL1;D6RH12 ABBA01062043;AC008434;AC018764;AMYH01015445;BC137441;BC137442;BC142957;CH471084;CR749535;NM_001004441 A5PLL1;AAI37442;AAI37443;AAI42958;AAI43088;AAI43089;ACE86934;CAH18341;EAW95857;EAW95858;NP_001004441 Hs.519404 DP58 OTTHUMP00000222288;OTTHUMP00000222289;ankyrin repeat domain-containing protein 34B;cytosolic phosphoprotein DP58;dendritic phosphoprotein 58 kDa protein-coding ENSG00000189127 33736 13246 VALIDATED 3378225 ANKRD36P1 ankyrin repeat domain 36 pseudogene 1 Y Y Y q11.23 9481640 9502237 + 26964897 26979636 + 28555667 28585150 + 9847074 100132420 ABBA01015501;ABBA01015502;ABBA01015503;ABBA01015504;ABBA01015505;ABBA01015506;AC013734;NG_029080 5116742 sY3159 pseudo 37759 INFERRED 1602616 ANKRD36C ankyrin repeat domain 36C 2 2 2 q11.1 91015332 91035982 - 95880570 96021431 - 96516920 96657981 - 6480464 14702039;8608414;22505724 400986 E9PJI0;F8WEX4;H0YDI7;H7BXK8;H7C425;Q5JPF3 ABBA01030072;ABBA01030073;ABBA01030074;ABBA01030075;ABBA01030076;ABBA01030077;ABBA01030078;ABBA01030079;ABBA01030080;AC013272;AC073995;AK123626;AK124101;AK302433;AL832836;AL832977;AMYH01010712;AMYH01010713;AMYH01010714;U28831;XM_001717763;XM_003118857;XM_003119864;XM_003960295 AAB02177;BAG63735;CAH56324;CAI46156;Q5JPF3;XP_001717815;XP_003118905;XP_003119912;XP_003960344 Hs.646318 2174363 STS-M78662 FLJ42107;HEM1 OTTHUMP00000207419;ankyrin repeat domain 36C;ankyrin repeat domain-containing protein 36C;protein immuno-reactive with anti-PTH polyclonal antibodies APPROVED protein-coding 32946 17388 MODEL 1352925 ANKRD36B ankyrin repeat domain 36B 2 2 q11.2 97487693 97572761 - 98121261 98206428 - 737633;6480464 12477932 16344560;15489334;14702039;12107410;10997877 57730 Q8N2N9;Q8TDH5 ABBA01073644;ABBA01073645;ABBA01073646;ABBA01160606;AC017099;AC073995;AC159540;AF432208;AF432209;AK024934;AK056042;AK074570;AMYH01010789;AMYH01010790;AMYH01010791;AMYH01010792;BC017427;BC031883;BC038460;BC044844;BC071771;BC125132;BC125133;BM511319;CA394381;CH878726;CR741521;DB105321;DB353103;DR001190;NM_025190;XM_003960306 AAH31883;AAH44844;AAI25133;AAI25134;AAL99915;AAL99916;AAY24080;BAB15039;BAB71081;BAC11066;EAW53903;EAW53904;EAW53905;EAW53906;EAW53907;EAW53908;NP_079466;Q8N2N9;XP_003960355 Hs.532921 1690938;5020948;5022578;5022651 D11S2921;D1S1423;G35510;RH92495 FLJ21281;FLJ90089;KIAA1641;MGC149864;MGC149865;MGC167812 CLL-associated antigen KW-1;OTTHUMP00000161108;ankyrin repeat domain 36B;ankyrin repeat domain-containing protein 36B;kiaa1641;melanoma-associated antigen protein-coding 29333 10027 PROVISIONAL 1342961 ANKRD36 ankyrin repeat domain 36 2 2 q11.2 97143081 97148109 + 97779233 97930258 + 737633;6480464 12477932 16344560;15815621;15489334;14702039;12975309;10997877;8889548;17207965 375248 A6QL64;B5MDC9 AB046861;ABBA01010977;ABBA01036558;ABBA01036559;ABBA01036560;ABBA01036561;AC018892;AC160020;AF543495;AK090926;AK304740;AK307629;AK316541;AMYH01010729;AMYH01010730;AMYH01010731;AMYH01010732;AMYH01010733;AMYH01010734;AMYH01010735;AMYH01010736;AMYH01010737;AMYH01010738;AY358571;BC046186;BC128262;BC128517;BC146835;BX647769;CH471207;DA952980;DB516113;DW413497;NM_001164315 A6QL64;AAH46186;AAI28263;AAI28518;AAI46836;AAN40505;AAQ88934;AAY14642;ADQ33052;BAB13467;BAG65500;BAH14912;EAW71306;EAW71307;NP_001157787 Hs.541894 1690938;2185484 G04101;RH92495 FLJ33607;KIAA1641;MGC167812;UNQ2430 OTTHUMP00000207832;ankyrin repeat domain-containing protein 36;ankyrin repeat domain-containing protein 36A;ankyrin-related protein-coding ENSG00000135976 24079 16492 PROVISIONAL 2303683 ANKRD36BP1 ankyrin repeat domain 36B pseudogene 1 1 1 1 q24.2 141323828 141325693 - 166481422 166483563 - 168214803 168216668 - 6480464 16344560;12477932;16189514;21832049 84832 Q96IX9 ABBA01047231;AL009051;AMYH01001486;BC007072;DA219755;DA246884;DB229590;NR_026844 Q96IX9 Hs.537067 1671868;1676606;2174363 D1S279E;RH64481;STS-M78662 ANKRD26L1;ANKRD36BL1;MGC12538 APPROVED pseudo ENSG00000214262 28169 VALIDATED 1352290 ANKRD35 ankyrin repeat domain 35 1 1 1 q21.1 119752581 119771890 + 144260566 144279883 + 145549209 145568526 + 6480464 16710414;16344560;15489334;14702039;12477932;12107411;19471022;21900206 148741 B4DL62;Q8N283 ABBA01005742;AC243547;AK057853;AK091120;AK294308;AK296861;AL160282;AMYH01001373;AW245831;BC101618;BC101620;BQ636616;CH471244;DA399526;HY327286;NM_001280799;NM_144698 AAI01619;AAI01621;BAB71597;BAC03587;BAG57587;BAG59424;EAW71426;EAW71427;NP_001267728;NP_653299;Q8N283 Hs.710624 2135574 AL009334 FLJ25124;MGC126667;MGC126669 OTTHUMP00000015579;ankyrin repeat domain-containing protein 35 protein-coding ENSG00000198483 26323 08050 VALIDATED 4144543 ANKRD36BP2 ankyrin repeat domain 36B pseudogene 2 2 2 p11.2 87683191 87723878 - 89065419 89106110 + 12477932;14702039 645784 ABBA01018821;ABBA01018822;ABBA01018823;AC096579;AK097649;AL137717;AMYH01010629;BC031698;BX537549;BX648045;NR_015424 Hs.105323 1686590;2174363 RH66284;STS-M78662 DKFZp434J1630;DKFZp686E1246;DKFZp686O04183;FLJ40330 pseudo ENSG00000230006 33607 PREDICTED 6481072 ANKRD44-IT1 ANKRD44 intronic transcript 1 (non-protein coding) 100874357 AC010746;AC074092 miscrna 41477 1604164 ANKRD37 ankyrin repeat domain 37 4 4 4 q35.1 183644030 183647577 + 186554834 186558384 + 186317840 186321390 + 6480464 15809689;15489334;12477932;19491311;21890473 353322 D6RCL4;D6RFF5;Q7Z713 ABBA01070532;AC106897;AK303243;AMYH01014774;AY296056;BC088376;CH471056;NM_181726 AAH88376;AAP50252;BAG64328;EAX04647;EAX04648;NP_859077;Q7Z713 Hs.508154 1649687;1666840;2128602 SHGC-67400;SHGC-68105;WI-14754 Lrp2bp;MGC111507 OTTHUMP00000218248;ankyrin repeat domain-containing protein 37;hLrp2bp;low density lipoprotein receptor-related protein binding protein;low-density lipoprotein receptor-related protein 2-binding protein protein-coding ENSG00000186352 29593 17461 PROVISIONAL 1602717 ANKRD39 ankyrin repeat domain 39 2 2 2 q11.2 91953885 91963918 - 96877449 96887483 - 97513722 97523756 - 6480464 16344560;15815621;15592455;15489334;12477932;11042152;21145461;17207965;21832049;21906983 51239 Q53RE8 ABBA01036574;AC092636;AF151034;AK312193;AMYH01010726;BC031303;BU626151;BX091421;CH471207;DA769410;NM_016466 AAF36120;AAH31303;AAY14966;ADQ32451;BAG35126;EAW71328;EAW71329;EAW71330;NP_057550;Q53RE8 Hs.709507 1848143;1851835 D2S2834;RH78004 MGC41816 OTTHUMP00000161089;OTTHUMP00000207740;ankyrin repeat domain-containing protein 39 protein-coding ENSG00000213337 28640 14614 VALIDATED 1602991 ANKRD40 ankyrin repeat domain 40 17 17 17 q21.33 45231886 45246618 - 46127682 46140262 - 48770551 48785270 - 6480464 15489334;12477932;19913121;20628086;17207965;22863883;21906983;21139048;21942715;19322201 91369 A8IK34;K7ERW4;Q6AI12 ABBA01041244;AC005921;AK314010;AMYH01008475;BC005853;BC012978;CH471109;CR627413;EU164539;NM_052855 AAH12978;ABW05020;ADQ32683;BAG36721;CAH10502;EAW94589;NP_443087;Q6AI12 Hs.463426 5016478 GDB:434012 DKFZp451K241;MGC15396 OTTHUMP00000221729;ankyrin repeat domain-containing protein 40 protein-coding ENSG00000154945 28233 17502 VALIDATED 1605233 ANKRD42 ankyrin repeat domain 42 11 11 11 q14.1 80214956 80269666 + 82582939 82637661 + 82905291 82960013 + 6480464 17123353;15489334;14702039;12477932;22118674;21906983 338699 E9PIL2;E9PKE2;E9PP91;E9PR10;F8W6I9;H0YE80;Q8N9B4 ABBA01017362;AK095193;AK310765;AMYH01003839;AP000873;BC045621;BC062729;BC171752;BX648690;CA447533;CH471076;DQ508815;DQ508934;EF041819;NM_182603 AAH45621;AAH62729;ABF57994;ABF60230;ABL09300;BAC04496;EAW75086;EAW75087;NP_872409;Q8N9B4 Hs.503438;Hs.657164 1700012;1737643;2174205;5016679 A004Q14;D11S3248;RH103618;RH70808 FLJ37874;SARP OTTHUMP00000235034;OTTHUMP00000235036;OTTHUMP00000235037;OTTHUMP00000235038;ankyrin repeat domain-containing protein 42;several ankyrin repeat protein protein-coding ENSG00000137494 26752 08230 VALIDATED 1606657 ANKRD45 ankyrin repeat domain 45 1 1 1 q25.1 146686889 146748471 - 171844098 171905624 - 173577475 173639001 - 16710414;14702039;12477932;21832049 339416 Q5TZF3 ABBA01027902;ABBA01027903;AK127170;AL139142;AMYH01001503;AMYH01001504;BC029866;BC126353;BC126355;BX248409;CH471067;NM_198493 AAI26354;AAI26356;ADR82913;BAC86865;EAW90950;NP_940895;Q5TZF3 Hs.130054 1648097;1704218;5037552 D8S2279;GDB:1317994;SHGC-83129 CT117;FLJ45235;MGC161631;MGC161633;RP3-436N22.4 OTTHUMP00000038346;ankyrin repeat domain-containing protein 45;cancer/testis antigen 117 protein-coding 24786 13501 VALIDATED 1605602 ANKRD44 ankyrin repeat domain 44 2 2 2 q33.1 191615131 191818640 - 197567495 197771007 - 197851386 198175521 - 6480464 16555005;18186651;19240061;15489334;14702039;12477932;19596235;20379614;22990118;21187329 91526 B7Z6Z7;C9JY51;F5H682;F8WBW3;H7BXV4;H7C209;H7C3P1;H7C4A0;J3KN93;Q8N8A2 ABBA01062465;ABBA01062466;ABBA01062467;ABBA01062468;AC010746;AC013264;AC017035;AC074092;AI439698;AK021632;AK097086;AK124039;AK301209;AL133087;AMYH01011388;BC016985;BC050586;BC063622;CH471063;NM_001195144;NM_153697 AAH16985;AAH50586;AAH63622;AAX93155;AAY15060;BAC04946;BAH13433;CAB61404;EAW70141;EAW70142;NP_001182073;NP_710181;Q8N8A2 Hs.432706 1652267;1658405;1666191;1677925;1679389;1700264;1734958;1754445;1778775;2165524;2178505;5022450;5037552 A008Y34;AFMa121yh1;D10S275;D2S1710E;D2S2651;D2S2667;D8S2279;RH103749;RH93013;RH94357;SHGC-132573;SHGC-17220;SHGC-36159 FLJ11570;MGC21968;MGC70444;PP6-ARS-B OTTHUMP00000205625;OTTHUMP00000205626;OTTHUMP00000205627;OTTHUMP00000205628;PP6-ARS-B;ankyrin repeat domain-containing protein 44;protein phosphatase 6 ankyrin repeat subunit B;serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B;serine/threonine-protein phosphatase 6 regulatory subunit ARS-B protein-coding ENSG00000065413 25259 14284 VALIDATED 4889255 ANKRD54P1 ankyrin repeat domain 54 pseudogene 1 10 10 41650079 41650804 - 45646888 45647613 - 100419962 ABBA01050025;AL358394;AMYH01002298;NG_025432 pseudo 39214 INFERRED 3476309 ANKRD57P1 ankyrin repeat domain 57 pseudogene 1 Y Y q11.1 11783546 11784836 - 13323668 13324836 - 100131984 AC134878;NG_022994 2111288 D17S837 pseudo 37984 INFERRED 1606551 ANKRD49 ankyrin repeat domain 49 11 11 11 q21 91514963 91520554 + 93866801 93872392 + 94227153 94232744 + 6480464 15489334;14702039;12477932;11371508;11162141;16131492;19773279;17207965 54851 F5GWD9;F5H227;F5H3B3;F5H7L0;F6R851;Q8WVL7 ABBA01040029;AF025354;AK000196;AK000448;AK057696;AL833977;AMYH01003965;AP000786;AP000943;BC017798;BG025192;CH471065;NM_017704 AAH17798;AAK60412;ACE86482;ACE87163;ADQ32155;BAA91003;CAD38821;EAW66935;EAW66936;NP_060174;Q8WVL7 Hs.29052 1689682;1772028;1788090;1788100;2156266 G67220;G67298;RH68924;SHGC-35949;STS-R70005 FGIF;FLJ20189;FLJ20441;GBIF OTTHUMP00000236878;OTTHUMP00000236884;OTTHUMP00000236885;ankyrin repeat domain-containing protein 49;fetal globin-inducing factor protein-coding ENSG00000168876 25970 16893 VALIDATED 1606443 ANKRD46 ankyrin repeat domain 46 This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 8 8 8 q22.2 97718378 97757379 - 101602176 101641188 - 101521980 101572014 - 6480464 15489334;14702039;12477932;9110174;8619474;21041692;21139048;21890473;21906983;19322201;11297942;15152081;16344560;17176038;21219636;22559327;22053931 157567 B3KT99;E5RFM7;E5RHV2;E5RI04;E5RI20;J3KP26;Q86W74 AB077205;ABBA01037578;AK095235;AL832842;AMYH01018927;AP000424;BC015811;BC035087;BC050396;BC060843;CH471060;DA503253;NM_001270377;NM_001270378;NM_001270379;NM_198401;U79297 AAH50396;AAH60843;BAD23947;BAG53011;CAI46169;EAW91808;EAW91809;EAW91810;EAW91811;NP_001257306;NP_001257307;NP_001257308;NP_940683;Q86W74 Hs.744045 1646744;1690097;1773853;1773939;1848284;2154363;2154365;5094908 A005E22;A005P20;ANKRD46;D8S2126;G20396;HSCZOG032;RH15880;RH93372 ANK-S;GENX-115279 ANK-S;OTTHUMP00000227299;OTTHUMP00000227300;OTTHUMP00000227301;OTTHUMP00000227302;OTTHUMP00000227304;ankyrin repeat domain-containing protein 46;ankyrin repeat small protein APPROVED protein-coding ENSG00000186106 27229 14103 REVIEWED 1603620 ANKRD50 ankyrin repeat domain 50 4 4 4 q28.1 122965825 123014509 - 125804916 125851382 - 125585203 125633887 - 6480464 14702039;12477932;10574462;21832049 57182 Q8TB46;Q9ULJ7 AA628892;AB033049;ABBA01044769;AC105421;AF075020;AK091516;AK127496;AK291068;AK295135;AL110131;AMYH01014501;BC024725;BE887185;BX508307;BX640674;CD359799;CH471056;CX871714;NM_001167882;NM_020337 AAH24725;ADZ15484;BAA86537;BAC87007;BAF83757;BAG58158;CAE45806;EAX05206;NP_001161354;NP_065070;Q9ULJ7 Hs.480694 1645736;1687672;1772216;2147810;2175273;2180036 D4S3303;G09526;RH99075;SHGC-36222;SHGC-50186;STS-R72441 KIAA1223 OTTHUMP00000220148;OTTHUMP00000220149;ankyrin repeat domain-containing protein 50 protein-coding ENSG00000151458 29223 13843 VALIDATED 7111868 ANKRD61 ankyrin repeat domain 61 p22 12853948 100310846 A6NGH8 AC005995;AI221268;NM_001271700 A6NGH8;NP_001258629 ankyrin repeat domain-containing protein 61 protein-coding 22467 INFERRED 1315900 ANKRD60 ankyrin repeat domain 60 20 20 20 q13.32 53533993 53544127 - 56226957 56237445 - 56793551 56804039 - 6480464 11780052;19893584;19913121;20628086 140731 H7BY81;Q9BZ19 ABBA01005981;AL354776;AMYH01012016;CH471077;XM_001134442;XM_001717339;XM_003960791 EAW75502;Q9BZ19;XP_001134442;XP_001717391;XP_003960840 1683499 RH45766 C20orf86;bA196N14.3 OTTHUMP00000031385;ankyrin repeat domain-containing protein 60;chromosome 20 open reading frame 86 protein-coding 16217 12788 MODEL 1601705 ANKRD52 ankyrin repeat domain 52 12 12 12 q13.3 56284485 56305031 - 54917858 54938410 - 56631591 56652143 - 6480464 18186651;16964243;16541075;14702039;12975309;12477932;19913121;20628086;19596235;19615732;21187329;22586326;22505724 283373 B3KWN0;Q8NB46 AB190990;ABBA01008412;ABBA01008413;ABBA01008414;AC073896;AK056831;AK125379;AK126893;AMYH01004502;AY358160;BC024309;BC042070;CH471054;DR002390;NM_173595 AAQ88527;BAG16262;BAG54192;EAW96919;NP_775866;Q8NB46 Hs.524506 1644667;1686054 RH98394;SGC34394 ANKRD33;FLJ34236 CVWG5837;OTTHUMP00000243511;PP6-ARS-C;ankyrin repeat domain 33;ankyrin repeat domain-containing protein 52;protein phosphatase 6 ankyrin repeat subunit C;serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C;serine/threonine-protein phosphatase 6 regulatory subunit ARS-C protein-coding ENSG00000139645 26614 VALIDATED 2302254 ANKRD62 ankyrin repeat domain 62 18 18 18 p11.21 11976190 12012264 + 12084059 12117938 + 12093848 12129763 + 342850 A6NC57;J3QTZ2;K7EQA3 ABBA01074010;AMYH01008822;AMYH01008823;AP002414;BX648696;BX649021;CH471113;DW010010;DW010011;EG328348;NM_001277333;XM_001715728;XM_003118756;XM_003959949;XM_003960744;XM_003960745;XM_003960888 A6NC57;EAX01556;EAX01557;NP_001264262;XP_001715780;XP_003118804;XP_003959998;XP_003960793;XP_003960794;XP_003960937 Hs.448906 1786048;5014051;5037552 D8S2278;D8S2279;SHGC-155539 DKFZp686E2239;DKFZp779B1634 ankyrin repeat domain-containing protein 62 protein-coding ENSG00000181626 35241 VALIDATED 5132170 ANKRD63 ankyrin repeat domain 63 15 15 15 q15.1 17339637 17340779 - 38360937 38362079 - 40573645 40574787 - 100131244 C9JTQ0 ABBA01038455;AC020658;AMYH01006558;AMYH01006559;BF940541;NM_001190479 C9JTQ0;NP_001177408 Hs.711376 ankyrin repeat domain 63;ankyrin repeat domain-containing protein 63 protein-coding ENSG00000230778 40027 PROVISIONAL 7204990 ANKRD66 ankyrin repeat domain 66 6 p12.3 46714654 46726955 + 8889548 100287718 B4E2M5;H3BTF0 ABBA01050614;AK304342;AL161618;AL451143;AMYH01016329;BU608132;DC417416;NM_001162435 B4E2M5;BAG65187;NP_001155907 Hs.736491 ankyrin repeat domain-containing protein 66;hypothetical protein LOC100287718 protein-coding ENSG00000230062 44669 VALIDATED 1605329 ANKRD53 ankyrin repeat domain 53 2 2 2 p13.3 71056255 71063308 + 71059083 71065979 + 71205575 71212629 + 6480464 16344560;15489334;14702039;12477932;20211142 79998 C9JQK2;C9JZ61;Q8N9V6 ABBA01075545;AC007040;AK022118;AK093479;AMYH01010425;BC035234;CH471053;DB036445;NM_001115116;NM_024933 AAH35234;BAC04181;EAW99786;EAW99787;EAW99788;EAW99789;NP_001108588;NP_079209;Q8N9V6 Hs.512744 1649349;1789242;5022322;5037552 D11S2560;D8S2279;G65621;RH47589 FLJ12056;FLJ36160 OTTHUMP00000160126;OTTHUMP00000203459;OTTHUMP00000203460;OTTHUMP00000203461;ankyrin repeat domain-containing protein 53 protein-coding ENSG00000144031 25691 07762 VALIDATED 1605877 ANKRD54 ankyrin repeat domain 54 22 22 22 q13.1 22028653 22042127 - 36556808 36570249 - 38226862 38240353 - 6480464 15489334;15461802;14702039;12477932;10591208;22527282 129138 B5MCX7;C9JU48;C9JX82;D3YTC9;F8WB76;H7BZV9;H7C3L3;Q6NXT1 ABBA01055489;ABBA01055490;AK127583;AMYH01012757;BC014641;BC066909;BX401122;CD300696;CH471095;CR456471;NM_138797;NR_036556;Z97630 AAH14641;AAH66909;BAC87043;CAG30357;EAW60192;EAW60193;EAW60194;NP_620152;Q6NXT1 Hs.135259 2173725;2175739;2181145 A006R14;G28411;HSC1OE012 LIAR OTTHUMP00000198179;OTTHUMP00000198181;OTTHUMP00000198182;OTTHUMP00000198183;OTTHUMP00000198184;OTTHUMP00000198186;ankyrin repeat domain-containing protein 54;lyn-interacting ankyrin repeat protein protein-coding ENSG00000100124 25185 14042 613383 VALIDATED 1605952 ANKRD55 ankyrin repeat domain 55 5 5 5 q11.2 52349365 52481877 - 55431264 55564943 - 55395507 55529186 - 6480464 16344560;15489334;15372022;14702039;12477932;20453842;21383967;20211142;20080650;20686565;22130326;23535033;23128233;23263486;23382691;23457408 79722 D6R9N4;D6RBD3;Q3KP44 ABBA01015761;ABBA01015762;AC016585;AC016638;AK021857;AK123389;AMYH01015096;AW269928;BC106914;BC106915;CH471123;DA292581;NM_024669 AAI06915;AAI06916;BAB13916;BAG53900;EAW54941;NP_078945;Q3KP44 Hs.436214 1340434;1652121;1654241;1659837;1680042;1681708;1729654;1767769;2128625;2166710;2179445 A006Y08;D5S1547;D5S1739;D5S1966;D5S354;G16892;G19195;RH64979;RH80632;SGC30290;WI-13498 FLJ11795;MGC126013;MGC126014 OTTHUMP00000221878;OTTHUMP00000221879;ankyrin repeat domain-containing protein 55 protein-coding ENSG00000164512 25681 07758 615189 VALIDATED 5508531 ANKRD65 ankyrin repeat domain 65 1 1 p36.33 1343663 1346248 - 1353800 1356824 - 6480464 11181995;12477932;2302192 441869 E5RJM6;H0YAR0 ABBA01016038;ABBA01016039;AI094806;AI522076;AL391244;AMYH01000132;BC018095;BC063445;BC073150;BC094869;CH471183;M32220;NM_001145210;NM_001243535;NM_001243536 ACE86612;ACE87293;E5RJM6;EAW56204;EAW56205;NP_001138682;NP_001230464;NP_001230465 Hs.381222 ankyrin repeat domain 65;ankyrin repeat domain-containing protein 65;hypothetical protein LOC441869;uncharacterized protein LOC441869 protein-coding ENSG00000235098 42950 VALIDATED 1317569 ANKRD6 ankyrin repeat domain 6 6 6 6 q14.2-q16.1 90561418 90762379 + 90199616 90400124 + 90142897 90343553 + 6480464 17592114;14702039;14574404;12477932;12203740;12183362;10231032;8889548;19591803;20736409;22580979;21810271 22881 B7Z3D2;E5RH98;E5RIJ4;E5RIN9;E5RIS1;E5RJ05;E5RJ45;E5RJR9;H0YBG4;H0YBH4;H0YBW6;Q9Y2G4 AB023174;ABBA01040530;ABBA01040531;ABBA01040532;ABBA01040533;AK021550;AK022699;AK074189;AK092235;AK096867;AK295731;AK307792;AL096678;AL117504;AL136971;AL138717;AL159174;AMYH01016502;BC001078;BC042173;BM974140;CH471051;DC317010;DN999929;GU727626;NM_001242809;NM_001242811;NM_001242813;NM_001242814;NM_014942 AAH01078;AAH42173;ADU87628;BAA76801;BAG52502;BAG53385;BAH12168;CAB55968;EAW48550;EAW48551;EAW48552;EAW48553;NP_001229738;NP_001229740;NP_001229742;NP_001229743;NP_055757;Q9Y2G4 Hs.702213 1660803;1669043;1670718;1673271;1674763;1682395;1694544;1700988;1710704;1720013;1853622;2124222;2132657;2164580 A007K15;D6S1132E;D6S2078;D6S2196;G43165;RH104121;RH123984;RH46665;RH46749;RH46755;SHGC-79641;STS-AA025624;STS-N40186;WI-13908 DIVERSIN;FLJ12637;FLJ34916 OTTHUMP00000016855;OTTHUMP00000016856;OTTHUMP00000225479;OTTHUMP00000225480;OTTHUMP00000225481;ankyrin repeat domain-containing protein 6;diversin protein-coding ENSG00000135299 17280 09798 610583 VALIDATED 1352130 ANKRD7 ankyrin repeat domain 7 7 7 7 q31 112674150 112692226 + 117651953 117669982 + 117864712 117882785 + 1580863;6480464 8812458;15489334;15342556;12853948;12477932;9847074;22613542;16169070 56311 C9J2M7;C9JIJ7;Q92527 AA435914;AACC02000001;ABBA01057789;ABBA01057790;AC004029;AC006389;AC007874;AI126287;AI149744;AK302407;AMYH01017889;BC007020;BC032799;BP369869;CH236947;CH471070;D78334;DB442002;DB447815;NM_019644 AAB97503;AAF19231;AAH07020;AAH32799;BAA11348;BAG63717;EAW83538;EAW83539;NP_062618;Q92527 Hs.729340 2162142 AFMa073zb9 TSA806 OTTHUMP00000211148;OTTHUMP00000211149;OTTHUMP00000211150;ankyrin repeat domain-containing protein 7;testis-specific ankyrin motif containing protein;testis-specific protein TSA806 protein-coding ENSG00000106013 18588 610731 VALIDATED 1316983 ANKRD9 ankyrin repeat domain 9 14 14 14 q32.31 83027430 83030360 - 102042951 102045881 - 102973198 102976128 - 6480464 15489334;12508121;12477932 122416 H0YM08;H0YNN1;Q96BM1 ABBA01048474;ABBA01048475;AK291868;AL136293;AMYH01006031;BC015422;BC027479;BX161460;CH471061;NM_152326 AAH15422;AAH27479;ABM82613;ABM85797;BAF84557;CAD61921;EAW81791;EAW81792;NP_689539;Q96BM1 Hs.432945 1671983;2117256;2135190;2138959;2156786;2175544;5019819 A003P27;A004S19;A009Y10;Bdab1d07;G27983;G32972;RH15690 MGC21990 OTTHUMP00000246829;ankyrin repeat domain-containing protein 9 protein-coding ENSG00000156381 20096 12467 PROVISIONAL 1604545 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 16 16 16 p13.3 4955291 4992944 - 4686514 4724164 - 4746511 4784378 - 6480464 17081983;16964243;16713569;14702039;12477932;11853319 124401 D3DUE4;K7EJS9;K7EJX3;K7EJY2;K7EKD2;K7ELP3;K7ELU8;K7EM53;K7EPL7;K7EPP4;K7EPY5;K7EQE0;K7ERF3;K7ERR7;K7ERY3;Q6ZW76;Q6ZWA7 AB075857;ABBA01026783;ABBA01026784;AC020663;AC023830;AI560632;AK056907;AK057329;AK123371;AK123496;AK301683;AMYH01007107;BC031350;BC032314;BC050387;BM545219;BX333650;CH471112;DR004376;NM_001242929;NM_133450;NR_040252 AAH50387;BAB85563;BAC85597;BAC85629;BAG51903;BAG63156;EAW85269;EAW85270;EAW85271;EAW85272;EAW85273;EAW85274;EAW85275;NP_001229858;NP_597707;Q6ZW76 Hs.654859 5037552 D8S2279 FLJ32345;FLJ32767;KIAA1977 OTTHUMP00000159853;ankyrin repeat and SAM domain-containing protein 3 protein-coding ENSG00000168096 29422 13909 VALIDATED 1602104 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011] 12 12 q23.1 97653202 98902563 - 99128569 100378432 - 6480464 16386788;15862129;15347684;15004329;12837293;12700034;12508107;12477932;12415113;10490826;20205790;16537434;19666031;19721433;19851462;20161521;20379614;19913121;20578947;20628086;20966902;21107309;15342556;16344560;17875921;20100865;21832049;16769578;16273093;22959728;23251661;23319000;23453885 56899 B1VKB5;B7Z9I9;F5GX70;F8VR14;F8VVQ4;H0YI72;H0YJZ1;J3QSU0;Q6V0K8;Q9NRX7;R4GMN5;R4GMQ4;R4GMS8;R4GN07;R4GN70;R4GN73;R4GN78;R4GNJ0 ABBA01053268;ABBA01053269;ABBA01053270;ABBA01053271;ABBA01053272;ABBA01053273;ABBA01053274;ABBA01053275;ABBA01053276;ABBA01053277;ABBA01053278;ABBA01053279;ABBA01053280;ABBA01053281;AC008126;AC011248;AC021653;AC048330;AC069437;AC078916;AC079954;AC084374;AC117377;AC126616;AC141554;AC141555;AC141556;AF145204;AF164792;AK124453;AK289768;AK294191;AK294994;AK295988;AK315954;AM980945;AMYH01004693;AY281131;AY281132;AY283057;AY356353;AY620824;AY753193;BC026313;BC068451;BC091512;BC142669;BC150204;BG338019;BP193713;BQ614098;BU568171;D80328;DA183756;DA690060;DA783474;DB475766;NG_029860;NM_001204065;NM_001204066;NM_001204067;NM_001204068;NM_001204069;NM_001204070;NM_001204079;NM_001204080;NM_001204081;NM_020140;NM_152788;NM_181670 AAD33951;AAF80756;AAH26313;AAH68451;AAI42670;AAI50205;AAI60005;AAP37612;AAP37613;AAP38184;AAQ56189;AAT39519;AAV28691;BAF82457;BAG57507;BAG58059;BAG58763;BAH14325;CAQ37746;NP_001190994;NP_001190995;NP_001190996;NP_001190997;NP_001190998;NP_001190999;NP_001191008;NP_001191009;NP_001191010;NP_064525;NP_690001;NP_858056;Q7Z6G8 Hs.506458 1337135;1338191;1339926;1341845;1649052;1651345;1652104;1665911;1704332;1714549;1722867;1732705;1736260;1739131;1761105;1774124;2106951;2125687;2125689;2128287;2129565;2144268;2157925;2175223;2187253;5092004;5095038;7183696 APAF1_7746;D12S1058;D12S1059;D12S1082;D12S1098;D12S1099;D12S1100;D12S1218E;D12S1355;D12S1600;D12S346;D12S58;D12S836;D5S1886;G17651;G60526;RH119788;RH46329;RH47349;RH47351;RH69665;SHGC-145114;SHGC-78121;SHGC-78132;STS-D51799;TKY831;WI-21542 AIDA;AIDA-1;ANKS2;EB-1;EB1;MGC26087;cajalin-2 E2a-Pbx1-associated protein;OTTHUMP00000243457;OTTHUMP00000243458;OTTHUMP00000243459;OTTHUMP00000243460;OTTHUMP00000243461;OTTHUMP00000243462;OTTHUMP00000243463;OTTHUMP00000243464;OTTHUMP00000243466;OTTHUMP00000243467;OTTHUMP00000243468;amyloid-beta precursor protein intracellular domain associated protein 1;amyloid-beta protein intracellular domain-associated protein 1;ankyrin repeat and sterile alpha motif domain-containing protein 1B;cajalin 2 APPROVED protein-coding ENSG00000185046 24600 07426 607815 REVIEWED 1606413 ANKS4B ankyrin repeat and sterile alpha motif domain containing 4B 16 16 16 p12.2 20559328 20578058 + 21152517 21171251 + 21245016 21263750 + 6480464 15461667;14702039;12588794;12477932;21832049 257629 Q8N8V4 ABBA01028294;AF001550;AK096138;AMYH01007348;BC111784;BC112368;CH471228;NM_145865 AAI60087;BAC04707;EAW66861;NP_665872;Q8N8V4 Hs.115959 1738683;5015861;7185938 D10S16;D16S2797 FLJ38819;HARP;MGC133380;MGC133381 ankyrin repeat and SAM domain-containing protein 4B;harmonin-interacting ankyrin repeat-containing protein;harmonin-interacting ankyrin-repeat containing protein protein-coding ENSG00000175311 26795 08794 609901 VALIDATED 6481331 ANO1-AS1 ANO1 antisense RNA 1 100873981 AP000879 APPROVED miscrna 40016 1319381 ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A 6 6 6 p21.31 36411475 36613603 + 34965016 35167168 + 34857038 35059190 + 6480464 15324660;17353931;18391951;15500253;15489334;15345747;15302935;14574404;12477932;12439753;9039502;8889548;15778465;19913121;20546612;20628086;20659327;10958799;20379614;21529783;21378990;22863883;18029348;20100865;22332920;22291991;16273093;23144319;23239578;23251661 23294 B4DQW8;Q05CP0;Q92625 ABBA01038214;ABBA01038215;ABBA01038216;ABBA01038217;ABBA01038218;AK025381;AK298987;AL033520;AL138721;AL591002;AMYH01016263;BC022396;BC031934;BC049213;BC132832;BC144341;BF592042;BQ216321;BU676295;BX094969;CH471081;D86982;NM_015245 AAH22396;AAH31934;AAI32833;BAA13218;BAG61080;EAX03800;EAX03801;EAX03802;EAX03803;EAX03804;NP_056060;Q92625 Hs.656492 1644953;1651165;1680811;1724585;1774793;1858319;2118283;2166924;2181903;2183616;2191307 MARC_17239-17240:1023900206:1;RH121289;RH25435;RH36210;RH36455;RH40967;RH45580;SHGC-34024;STS-N22435;STS-R07970;WIAF-1586 ANKS1;KIAA0229;MGC42354 OTTHUMP00000016243;Odin;ankyrin repeat and SAM domain containing 1;ankyrin repeat and SAM domain-containing protein 1A protein-coding ENSG00000064999 20961 10610 608994 VALIDATED 3436177 ANO1-AS2 ANO1 antisense RNA 2 (head to head) 11 11 q13.3 67185224 67188225 - 69918540 69921541 - 100009613 ABBA01010299;AMYH01003775;AP003555;AW592641;EF419887;HY053628;NR_103835;XR_110889;XR_111195;XR_132466;XR_171903 Hs.131238;Hs.743025 C11orf78;NCRNA00224 APPROVED miscrna ENSG00000254417 33275 VALIDATED 1321890 ANO1 anoctamin 1, calcium activated chloride channel 11 11 q13.3 69602294 69713282 + 69924408 70035651 + 737633;6480464 12477932 19015192;19011564;18772398;18724360;18648740;15067359;14702039;12739008;22335248;22685202;21295818;21349842;19372102;19606013;19654323;19687122;19773279;19819874;19823864;21092923;20716167;20716168;21041307;19913121;20628086;22571292;21084298;22415075;21350101;22526416;23034390;21645494;21358619;23570556;21585622;21756825;21940901;22912841;22988141;23431153;22699056;22399613;22197035;21906983;22178883;22564524;21965629;22495382;22946562;22973054;23576756;23038686;23104560;22351639;22460810 55107 E9PNA7;E9PP68;E9PS90;F5H566;H0YDD9;Q5XXA6;Q9NW72 ABBA01010299;ABBA01010300;AI694083;AK001123;AK097619;AK293088;AK303971;AL833582;AMYH01003775;AMYH01003776;AP000879;AY728143;BC027590;BC033036;CF593428;CH471076;DB445158;DB450993;HQ418153;NM_018043;NR_030691 AAH27590;AAH33036;AAU82085;ADP09411;BAA91513;BAC05123;BAF85777;BAH14087;EAW74757;EAW74758;EAW74759;NP_060513;Q5XXA6 Hs.503074 1681572;2109975;2166265 RH48109;RH92087;TMEM16A_9873 DOG1;FLJ10261;ORAOV2;TAOS2;TMEM16A OTTHUMP00000235453;OTTHUMP00000235456;OTTHUMP00000235457;anoctamin-1;discovered on gastrointestinal stromal tumors protein 1;oral cancer overexpressed 2;oral cancer overexpressed protein 2;transmembrane protein 16A (eight membrane-spanning domains);tumor amplified and overexpressed sequence 2;tumor-amplified and overexpressed sequence 2 protein-coding ENSG00000131620 21625 18202 610108 VALIDATED 1348688 ANKUB1 ankyrin repeat and ubiquitin domain containing 1 3 3 3 q25.1 147892237 147923960 - 150961961 150993243 - 149478887 149510610 - 14702039;12477932;8889548 389161 A6NFN9;B4E2N8;C9JND2;E9PHT4 ABBA01058939;AC069216;AK027233;AK098078;AK304359;AMYH01013572;BC171805;BU686654;NM_001144960 A6NFN9;BAG53578;BAG65200;NP_001138432 Hs.665988 1715549;2175886 D3S2401;RH120916 C3orf16;FLJ40759 OTTHUMP00000216004;ankyrin repeat and ubiquitin domain containing 1;ankyrin repeat and ubiquitin domain-containing 1;hypothetical protein LOC389161;protein ANKUB1 APPROVED protein-coding ENSG00000206199 29642 PROVISIONAL 1319654 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 9 9 9 q22.33 72008186 72066777 - 100534112 100598615 - 101494291 101558794 - 6480464 18029348;18978678;18434273;15489334;15164053;14702039;12477932;21832049 203286 B3KXP1;F5H7X9;H7C163;Q8N9L6 ABBA01042909;ABBA01042910;ABBA01042911;AK074328;AK094247;AK126614;AK127702;AL353782;AL807776;AMYH01021564;BC012981;BC064367;CH471105;CR749467;CR749472;DQ309777;DQ309778;DQ309779;DQ309780;DQ309781;DQ309782;DQ309783;DQ309784;DQ309785;DQ309786;DQ309787;DQ309788;DQ309789;DQ309790;DQ309791;NM_173551 AAH64367;ABC48694;BAC04317;BAG54553;CAH18298;CAH18302;EAW58892;EAW58893;EAW58894;EAW58895;NP_775822;Q68DC2 Hs.406890 1664012;2114056;2127692;2162649 AB046634;D9S2093;RH15962;SHGC-4650 ANKRD14;DKFZp686D24121;DKFZp781I0117;MGC70366;SAMD6 OTTHUMP00000021780;OTTHUMP00000179114;SAM domain-containing protein 6;ankyrin repeat and SAM domain-containing protein 6;ankyrin repeat domain 14;ankyrin repeat domain-containing protein 14;samCystin;sterile alpha motif domain containing 6;sterile alpha motif domain-containing protein 6 protein-coding ENSG00000165138 26724 18012 PROVISIONAL 1318896 ANO3 anoctamin 3 11 11 11 p14.2 26498680 26830111 + 26310254 26641412 + 26353678 26684836 + 1580863;6480464 19015192;16344560;15067359;12739008;19553259;20379614;22657408;23200863 63982 B7Z3F5;E9PKW2;E9PQ79;Q9BYT9 ABBA01060980;ABBA01060981;ABBA01060982;AC021698;AC036114;AC079064;AC083755;AJ300461;AK295143;AK295658;AK295816;AK302659;AK304781;AK316018;AMYH01003455;AMYH01003456;BQ430769;CH471064;DA247850;NM_031418;X81896 AAI72396;BAH11989;BAH12144;BAH12191;BAH13772;BAH14255;BAH14389;CAC32454;EAW68296;NP_113606;Q9BYT9 Hs.91791 1340365;1660766;1668872;1697210;1701100;1720019;1721669;1721747;1732169;1737125;1755633;1769744;1772162;1772958;2113970;2127562;2133135;2141072;2142451;2166356;2167132;2171297;2178114;2218840;7186472 A004R23;AB048919;D11S1568;D11S2279E;D11S2364;D11S2373;D11S2949;D11S3990;D11S4348;D11S904;G02339;G30236;G59741;G59845;RH102097;RH104178;RH123987;RH16157;RH16467;RH35938;RH78143;SGC34286;SHGC-142486;TMEM16C__5280 C11orf25;DYT23;DYT24;GENX-3947;TMEM16C OTTHUMP00000231884;OTTHUMP00000231886;OTTHUMP00000232233;anoctamin-3;transmembrane protein 16C (eight membrane-spanning domains) protein-coding ENSG00000134343 14004 15526 610110;615034 VALIDATED 1602704 ANKZF1 ankyrin repeat and zinc finger domain containing 1 2 2 2 q35 213864186 213871098 + 219802723 219809635 + 220094479 220101391 + 6480464 17081983;16964243;16344560;16169070;15489334;14702039;12477932;8125298;20211142;21832049;21896481;21900206;21914798 55139 B8ZZS4;C9J5H7;C9JQZ3;C9JS61;C9K022;F8WD44;Q9H8Y5 ABBA01023845;ABBA01023846;AC068946;AF364318;AK001277;AK023206;AK056060;AK095304;AK098282;AK225275;AK225309;AK303077;AK303537;AMYH01011505;BC000238;BC008948;BC028334;CH471063;DA226194;DA899467;DQ412564;NM_001042410;NM_018089 AAH00238;AAH08948;ABD65410;BAA91596;BAB14462;BAG64193;BAG64563;EAW70708;EAW70709;EAW70710;NP_001035869;NP_060559;Q9H8Y5 Hs.437647 1655278;1663635;2142422;2183384;5015619;5016478;5022200;5037552 D11S3114;D2S1807;D8S2279;GDB:434012;L18426;RH12093;SHGC-32531;WI-15771 FLJ10415;FLJ13144;ZNF744 OTTHUMP00000205941;OTTHUMP00000205942;OTTHUMP00000205943;ankyrin repeat and zinc finger domain-containing protein 1;zinc finger protein 744 protein-coding ENSG00000163516 25527 07673 VALIDATED 1342534 ANO5 anoctamin 5 This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009] 11 11 11 p14.3 22346769 22437966 + 22171298 22257975 + 22214722 22304913 + 6480464;7240710 22336395;19015192;15457408;15124103;15067359;14702039;8889548;20692837;20096397;21186264;17008331;22980764;23055322;21906983;22402862;22499103;20301582;22742934;23453885 203859 Q75V66 AB125267;ABBA01061015;AC104009;AC107886;AK092680;AK125046;AL832374;AL833271;AMYH01003438;BU742779;CH471064;N89918;NG_015844;NM_001142649;NM_213599 AAI56326;AAI72489;BAD17859;EAW68325;NP_001136121;NP_998764;Q75V66 Hs.154329 1676314;1697114;1749229;1856446;2143812 D11S1120;RH102041;RH66694;RH91889;SHGC-110910 GDD1;LGMD2L;TMEM16E OTTHUMP00000231795;anoctamin-5;gnathodiaphyseal dysplasia 1 protein;integral membrane protein GDD1;limb girdle muscular dystrophy 2L (autosomal recessive);transmembrane protein 16E APPROVED protein-coding ENSG00000171714 27337 10558 166260;608662;611307;613319 REVIEWED 1352763 ANO2 anoctamin 2 ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011] 12 12 12 p13.3 7292577 7675047 - 5542081 5925659 - 5671817 6055398 - 1580863;6480464 21697133;19561302;19474308;19165232;19015192;17371490;16344560;15067359;14702039;12739008;8889548;20379614;23570556;18029348;21906983;23251661;23382691 57101 F5GXT3;F5H806;Q9NQ90 AB593159;ABBA01017624;ABBA01017625;ABBA01017626;ABBA01017627;AC006431;AC006560;AC137627;AJ272204;AK024010;AL137419;AMYH01004199;AMYH01004200;BE645295;BM710588;BQ025064;CH471116;DB071682;FJ384095;NM_001278596;NM_001278597;NM_020373 AAI52769;ACL36050;BAB14773;BAJ84091;CAC01125;CAH10704;EAW88819;EAW88820;EAW88821;NP_001265525;NP_001265526;NP_065106;Q9NQ90 Hs.148970 1335356;1335608;1656729;1672953;1705088;1705516;1707608;1711386;1722751;1736856;1736872;1777959;1782542;2123202;2131735;2140767;2176876;2179628;2218838;5014053;5107135;5109549 AFMb052yg5;D12S1262;D12S1265;D12S1673;D12S374;D1S3693;D21S1698;G41269;G41792;G42175;G60314;G65694;RH47566;RH66488;SHGC-10475;SHGC-10476;SHGC-106968;SHGC-31150;SHGC-78069;SHGC-83855;SHGC-84619;TMEM16B__5279 C12orf3;DKFZp434P102;TMEM16B OTTHUMP00000238430;anoctamin-2;transmembrane protein 16B (eight membrane-spanning domains) APPROVED protein-coding ENSG00000047617 1183 11634 610109 VALIDATED 1320339 ANLN anillin, actin binding protein 7 7 p15-p14 36395957 36459925 + 36429432 36493400 + 1580863;6480464 10931866;18158243;17081983;16964243;16357138;16203764;16129829;16040610;15800069;15635413;15616196;15496454;15489334;15302935;14702039;12637748;12479805;12477932;21109967;17643375;19995712;22939629;19596686;20360068;21849473;21139048;22514687;19531213 54443 C9J0G4;C9JJT6;H7C0Y6;H7C167;H7C1C2;H7C1K5;H7C3R2;H7C3S1;Q9NQW6 AACC02000036;ABBA01056905;AC006960;AF273437;AK001468;AK001472;AK023208;AK094574;AK291254;AK299803;AMYH01017181;BC034692;BC070066;BE885510;BQ434804;BU630923;CH236951;CH471073;CR936650;CS401486;NM_018685 AAF75796;AAH34692;AAH70066;BAA91710;BAA91711;BAB14463;BAF83943;BAG61678;CAI56788;CAL40337;EAW94067;EAW94068;EAW94069;EAW94070;EAW94071;EAW94072;NP_061155;Q9NQW6 Hs.62180 1657004;1675931;1688887;1707808;1775133;2167894;2186918;5022681 ANLN;GDB:1317748;GDB:1318228;RH80333;RH91404;SHGC-36429;SHGC-82130;WI-15514 DKFZp779A055;Scraps;scra OTTHUMP00000126965;OTTHUMP00000206987;actin-binding protein anillin protein-coding ENSG00000011426 14082 09799 VALIDATED 1602957 ANO7P1 anoctamin 7 pseudogene 1 1 1 1 p36.13 15022766 15034829 - 16415461 16425381 - 16551832 16553713 - 645634 XM_001714143;XM_002342033 XP_001714195;XP_002342074 1855472;1855474;2112364 D1S3633;SHGC-74265;WI-14689 ANO7L1;C1orf224;FLJ33962;TMEM16M anoctamin 7 pseudogene 1;anoctamin 7-like 1;chromosome 1 open reading frame 224;transmembrane protein 16M APPROVED protein-coding 32248 MODEL 1342993 ANOP1 anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) 7240710 1679229 289 498 1605667 ANO10 anoctamin 10 The transmembrane protein encoded by this gene is a member of a family of calcium-activated chloride channels. Defects in this gene may be a cause of autosomal recessive spinocerebellar ataxia-10. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] 3 3 3 p22.1 43345314 43601240 - 43382822 43638564 - 43407818 43663560 - 6480464 19015192;14702039;12477932;22008874;21963094;21987572;21890473;21906983;22527681;23251661 55129 C9IYD3;C9IZD0;C9J670;C9JA49;C9JH90;C9JHS1;C9JJS5;C9JPY2;C9JQC9;H7C3N6 AA252209;ABBA01024758;ABBA01024759;AC097638;AC104184;AC105903;AC135852;AK096302;AK131223;AK292368;AK295969;AK297949;AL832508;AMYH01013118;BC038855;CH471055;NG_028216;NM_001204831;NM_001204832;NM_001204833;NM_001204834;NM_018075 AAI56279;AAI57062;BAF85057;BAG53253;BAG54755;BAG58745;BAG60264;EAW64695;EAW64696;EAW64697;EAW64698;NP_001191760;NP_001191761;NP_001191762;NP_001191763;NP_060545;Q9NW15 Hs.656657 1336139;1342348;1661414;1707298;1712727;1716951;1739763;1759739;1777274;2147712 D3S3475E;D3S3647;D3S3678;HSC12B032;RH121060;RH121855;SHGC-150987;SHGC-76857;SHGC-79253;STS-R48504 FLJ10375;MGC47890;SCAR10;TMEM16K OTTHUMP00000164038;OTTHUMP00000164039;OTTHUMP00000209958;OTTHUMP00000209959;OTTHUMP00000209960;anoctamin-10;transmembrane protein 16K APPROVED protein-coding ENSG00000160746 25519 07667 613726;613728 REVIEWED 1321043 ANO4 anoctamin 4 12 12 12 q23.1 100853681 101187742 + 99712716 100046539 + 101188374 101522419 + 6480464 14702039;19015192;16344560;15067359;12739008;12477932;23535033 121601 F5H834;F8VUH1;F8VW62;Q32M45 ABBA01053247;ABBA01053248;ABBA01053249;AC063947;AC079953;AC125628;AC127893;AC138360;AC225709;AI140598;AK091540;AK091591;AK092596;AK293810;AK302962;AK316105;AMYH01004697;AMYH01004698;AMYH01004699;AMYH01004700;BC109308;CH471054;DA213819;DA811418;DC325277;NM_178826 AAI09309;BAC03688;BAC03704;BAC03924;BAH11602;BAH13859;BAH14476;EAW97645;EAW97646;EAW97647;NP_849148;Q32M45 Hs.58785 1338184;1682455;1752941;1768399;1773288;1779564;1853232;2115749;2159218;2174969;2179929;5017493 D12S1041;D12S1083;D12S1101;D12S1835;G17618;RH99125;SHGC-106784;SHGC-153536;SHGC-33403;SHGC-64282;TKY933;WI-15132 FLJ34221;FLJ34272;FLJ35277;MGC130026;TMEM16D OTTHUMP00000243883;OTTHUMP00000243884;anoctamin-4;transmembrane protein 16D protein-coding ENSG00000151572 23837 15527 610111 VALIDATED 5490864 ANP32AP1 acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 15 15 q14 33316819 33317556 + 35529527 35530264 + 6480464 21906983 723972 Q1AHP8 ABBA01038506;AC107992;AMYH01006542;DQ083510;NR_003144 AAZ31261 Hs.631698 1684419;1688130 RH46906;RH70903 pseudo ENSG00000259516 42949 PROVISIONAL 1349559 ANO8 anoctamin 8 19 19 19 p13.11 17335762 17347370 - 17295034 17306638 - 17434032 17445638 - 6480464 19015192;15647853;12477932;10997877;16169070 57719 M0QYD2;Q9HCE9 AB046843;ABBA01051192;AC010463;AI860149;AMYH01009570;AMYH01009571;BC037307;CH471106;NM_020959 BAB13449;EAW84595;EAW84596;NP_066010;Q9HCE9 Hs.590990 1673784;1689245 RH93609;STS-W45157 KIAA1623;TMEM16H anoctamin-8;transmembrane protein 16H protein-coding ENSG00000074855 29329 17223 610216 VALIDATED 1312398 ANO6 anoctamin 6 This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] 12 12 12 q12 44413462 44637876 + 43896170 44112399 + 45609770 45834187 + 6480464;7240710 19015192;15489334;14702039;12477932;7566098;15067359;21107324;20379614;21511967;22256604;21139048;21890473;21906983;19322201;22138694;21963094;23000965;23426967 196527 B3KX12;F8VX71;Q4KMQ2 AA332109;ABBA01031441;AC009248;AC009778;AC063924;AK095979;AK126409;AK302819;AK303996;AK310641;AL832340;AL833405;AMYH01004421;AMYH01004422;AMYH01004423;BC042383;BC063576;BC073891;BC098410;BC136445;NG_028220;NM_001025356;NM_001142678;NM_001142679;NM_001204803 AAH98410;AAI36446;BAG54324;BAG64017;BAG64913;CAD38638;NP_001020527;NP_001136150;NP_001136151;NP_001191732;Q4KMQ2 Hs.505339 1662702;1669180;1698346;1701350;1717841;1736190;1746765;1760085;1764465;1851414;5022200;5022578 D12S1135E;D12S1320;D1S1423;G64798;L18426;RH102714;RH104305;RH121832;SHGC-107762;SHGC-148070;SHGC-33633;STS-N36984 BDPLT7;MGC104751;SCTS;TMEM16F OTTHUMP00000241548;OTTHUMP00000241549;OTTHUMP00000241551;OTTHUMP00000241552;SCAN channel;anoctamin-6;small-conductance calcium-activated nonselective cation channel;transmembrane protein 16F APPROVED protein-coding ENSG00000177119 25240 18746 262890;608663 REVIEWED 1351029 ANO7 anoctamin 7 This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011] 2 2 2 q37.3 235798107 235834087 + 241776597 241813464 + 242127924 242164791 + 1303974;6480464 14981236 19015192;18676855;15761874;15375614;14702039;12477932;10613842;19495750 50636 H7C220;Q6IWH7 ABBA01006040;ABBA01006041;ABBA01006042;ABBA01006043;AC005237;AC104841;AC111201;AK057322;AMYH01011628;AMYH01011629;AY617079;AY617080;BC028162;BC038852;BC047903;CD672346;NG_029845;NM_001001666;NM_001001891 AAH28162;AAI56325;AAI57070;AAT40139;AAT40140;NP_001001666;NP_001001891;Q6IWH7 Hs.163909 1776448;1852973;2137759;2150981 G42012;G42022;RH68737;SHGC-35108 D-TMPP;DTMPP;IPCA-5;IPCA5;NGEP;PCANAP5;PCANAP5L;TMEM16G Dresden-transmembrane protein of the prostate;OTTHUMP00000200376;OTTHUMP00000200377;OTTHUMP00000200379;anoctamin-7;dresden transmembrane protein of the prostate;new gene expressed in prostate;prostate cancer associated protein 5;prostate cancer-associated gene 5;prostate cancer-associated protein 5;transmembrane protein 16G APPROVED protein-coding ENSG00000146205 31677 16090 605096 REVIEWED 1345920 ANO9 anoctamin 9 11 11 11 p15.5 476822 501215 - 407930 432011 - 417930 442011 - 6480464 19015192;16344560;15202010;14702039;12477932;9305847;20379614;22223854 338440 A1A5B4 ABBA01015182;ABBA01015183;ABBA01015184;AC138230;AI986229;AK026923;AK074088;AK096874;AK303642;AK316479;AL832289;AMYH01003285;AMYH01003286;BC047946;BC128557;BC144415;CH471158;CQ834410;CQ834594;DB140066;NM_001012302;U33271 A1A5B4;AAI28558;BAB84914;BAG53386;BAG64646;BAH14850;CAH05420;CAH05512;EAX02326;NP_001012302 Hs.501622 PIG5;TMEM16J;TP53I5 OTTHUMP00000229781;anoctamin-9;p53-induced gene 5 protein;transmembrane protein 16J;tumor protein p53 inducible protein 5;tumor protein p53-inducible protein 5 protein-coding ENSG00000185101 20679 18214 VALIDATED 6484654 ANP32BP3 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 3 15 81409595 81410681 - 100652899 ABBA01060635;AC068870;AMYH01006852;NG_032808 pseudo 44089 INFERRED 2947095 ANP32BP1 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 1 15 15 15 q24.2 52540558 52541291 - 73401167 73402105 - 75614117 75614850 - 646791 ABBA01060520;AC068338;AMYH01006814;NG_022900 1794340 PMC311040P1 pseudo 24267 INFERRED 2947013 ANP32BP2 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 2 22 22 22 q13.31 28959635 28960342 + 43426385 43433559 + 45047715 45048422 + 100130708 ABBA01017860;AMYH01012838;NG_022880;Z98743 1711792;2152101 AL008644;G49421 pseudo 38552 INFERRED 1317675 ANP32C acidic (leucine-rich) nuclear phosphoprotein 32 family, member C Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is divergent between PP32 and the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008] 4 4 4 q32.3 162450710 162451414 - 165337609 165338313 - 165118159 165118863 - 6480464 15895553;15146458;12524539;11678310;11360199;10471270;10400610;10086381;22174317;23403278 23520 O43423 ABBA01070279;AC079240;AC105250;AF008216;AMYH01014665;CH471056;NM_012403 AAD12746;AAI72312;AAY40978;EAX04832;NP_036535;O43423 Hs.661161 PP32R1 acidic leucine-rich nuclear phosphoprotein 32 family member C;phosphoprotein 32-related protein 1;pp32 related 1;tumorigenic protein pp32r1 APPROVED protein-coding 16675 06045 606877 REVIEWED 1352374 ANTP2 adenine nucleotide translocator pseudogene 2 (clone 7) 2157297 295 508 1343739 ANTP3 adenine nucleotide translocator pseudogene 3 (clone 13) 2157297 296 509 1348379 ANTP4 adenine nucleotide translocator pseudogene 4 (clone 9) 2157297 297 510 1343834 ANP32A-IT1 ANP32A intronic transcript 1 (non-protein coding) 15 15 15 q23 45985330 45988610 - 66885697 66886494 - 69096160 69099440 - 6480464 14702039;12477932;23106098 80035 ABBA01038773;AC087639;AK021784;AMYH01006740;BC132845;BC136847;CH471082;NR_026808 EAW77826 Hs.662150 5037552 D8S2279 C15orf28;FLJ11722;HsT18971;MGC168461;NCRNA00321 APPROVED miscrna 25672 VALIDATED 731659 ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B 9 9 9 q22.32 71259753 71292490 + 99785310 99818046 + 100745489 100778225 + 1580863;6480464 19130553;18039846;17081983;16094384;15895553;15489334;15164053;12522243;12477932;11729309;11018049;9473664;9285060;8125298;17643375;20015864;20538007;21209461;21832049;22863883;21800051;19471022;21139048;21693764;21890473;19322201;21415862;22705300;22174317 10541 Q5T6W8;Q92688 ABBA01042921;ABBA01042922;ABBA01042923;AK223454;AK313733;AL354726;AMYH01021559;AW296974;BC013003;BC019658;BP395780;CH471105;NM_006401;U70439;Y07569;Y07570;Y07969 AAB37579;AAH13003;AAH19658;BAD97174;BAG36474;CAA68855;CAA68856;CAA69265;EAW58864;EAW58865;NP_006392;Q92688 Hs.730654 1794340;2151570;2218994 ANP32B__4313;PMC311040P1;RH70770 APRIL;PHAPI2;SSP29 OTTHUMP00000021759;OTTHUMP00000021760;acidic leucine-rich nuclear phosphoprotein 32 family member B;acidic protein rich in leucines;putative HLA-DR-associated protein I-2;silver-stainable protein SSP29 protein-coding ENSG00000136938 16677 09803 VALIDATED 1351063 ANP32D acidic (leucine-rich) nuclear phosphoprotein 32 family, member D Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is absent in the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47662478 47662873 + 47152715 47153110 + 48866448 48866843 + 6480464 15895553;15489334;12477932;11678310;11360199;10471270;10400610;10086381;22219177 23519 O95626 ABBA01031481;AC089987;AMYH01004432;BC069122;CH471111;NM_012404;U71084 AAD13667;AAH69122;EAW57983;NP_036536;O95626 Hs.532658 1688342;2220348 RH80847;UniSTS:480453 PP32R2 OTTHUMP00000222520;acidic leucine-rich nuclear phosphoprotein 32 family member D;acidic nuclear phosphoprotein 32D;phosphoprotein 32-related protein 2;pp32 related 2;tumorigenic protein pp32r2 APPROVED protein-coding ENSG00000139223 16676 06046 606878 REVIEWED 1606331 ANP32A acidic (leucine-rich) nuclear phosphoprotein 32 family, member A 15 15 q23 66859259 66900277 - 69070874 69113261 - 6480464 16169070;8192856;11729309;11555662;19121999;18439902;18410380;17962813;17557114;17266954;16713569;16344560;16341127;16009334;15895553;15642345;15489334;15247276;15136563;12807913;12565890;12524539;12522243;12477932;11909973;11830591;11360199;11163245;11018049;10400610;10086381;9353121;9144194;9110174;8970164;8679524;8619474;8530098;8125298;1655467;15308690;17643375;19565487;21209461;17142970;19913121;20558741;20628086;21152064;21325029;21642993;15100215;21317927;22863883;20683644;21139048;21693764;21890473;21906983;22174317 8125 H0YN26;H7BZ09;P39687 ABBA01038772;ABBA01038773;ABBA01038774;AC087639;AC090734;AF025684;AK127498;AK223280;AK312703;AMYH01006740;AW383928;AY007110;AY349171;BC000608;BC007200;BC064969;BC106719;BC125143;BT007436;CH471082;DA825897;NM_006305;U60823;U73477;X75090 AAB39706;AAB91548;AAC50570;AAH00608;AAH07200;AAI06720;AAI25144;AAP36104;AAQ79832;ABM84220;ABM87728;BAD97000;BAG35581;CAA52981;EAW77824;EAW77825;NP_006296;P39687 Hs.458747 1684419;1688130;2114455;2144213;2148022;2178054;2220348;5021894;5492885 D15S1181;D15S1277;D9S2077;RH46906;RH70903;SGC30863;UniSTS:480453;UniSTS:483159;ha2356 C15orf1;HPPCn;I1PP2A;LANP;MAPM;MGC119787;MGC150373;PHAP1;PHAPI;PP32 OTTHUMP00000205820;acidic leucine-rich nuclear phosphoprotein 32 family member A;acidic nuclear phosphoprotein pp32;cerebellar leucine rich acidic nuclear protein;hepatopoietin Cn;inhibitor-1 of protein phosphatase-2A;leucine-rich acidic nuclear protein;mapmodulin;potent heat-stable protein phosphatase 2A inhibitor I1PP2A;putative HLA-DR-associated protein I;putative human HLA class II associated protein I protein-coding ENSG00000140350 13233 09014 600832 VALIDATED 7206882 ANTXRLP1 anthrax toxin receptor-like pseudogene 1 10 q11.22 47624585 47644873 - 10737800 100996567 ABBA01033529;AL450388;BE775052;BX091290;BX280825;HY015468;HY092480;NR_103827;NR_103828;XM_003846381;XM_003846496;XM_003846540 XP_003846429;XP_003846544;XP_003846588 anthrax toxin receptor-like pseudogene 1 pseudo 45004 VALIDATED 1602061 ANTXRL anthrax toxin receptor-like 10 10 10 q11.22 42590783 42634004 - 47128240 47171452 + 47658233 47680921 + 6480464 16344560;15164054;14702039 195977 A6NF34;H3BPS2;H3BUA0;H3BUH6;H3BVE1 ABBA01033527;ABBA01033528;ABBA01033529;AK057316;AL450388;AL603965;AMYH01002426;DB133812;NM_001278688;XR_159066;XR_159158;XR_159198;XR_171854 A6NF34;NP_001265617 Hs.538515 1718759;2115405;5022322 D11S2560;G16010;RH123069 protein-coding 27277 PROVISIONAL 737099 ANPEP alanyl (membrane) aminopeptidase Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008] 15 15 q25-q26 88129130 88159076 - 90328126 90358072 - 1580863;1581742;1300048;1300284;6480464;6907045 15638741;1350662 15166647;15084671;14767532;14507917;12675232;12634402;12551991;12477932;12473585;12443882;12406907;11999577;11774469;11559807;11384645;11140838;10676659;10605003;9634079;9367365;9056417;8887485;8105105;8102610;7902291;7576235;6149934;2903074;2901990;2428842;1977688;1705556;1675638;10734069;2564851;15308636;19330903;18794057;18605079;18495788;18431797;18366676;18085638;18008160;17999179;17953966;17897790;17888402;17662271;17655775;17636545;17363739;17363734;17329256;16818694;16778789;16685268;16572171;16533817;16469741;16466852;16335952;16216591;15916720;15883031;15840518;15812828;15758076;15489334;15280478;15234325;22544935;18677709;19373777;19562339;19597336;19908113;20064928;20379614;19236378;20689807;21048031;17192395;21879266;22932899;22040956;21881118;20360068;22079983;21611838;23322201;21376765;22307972;22065384;23643324 290 H0YKT6;H0YLZ8;H0YM04;H0YMC1;P15144;Q59E93 AB209918;ABBA01053024;ABBA01053025;ABBA01053026;AC018988;AC079075;AF527789;AJ426050;AJ426067;AJ427985;AK298134;AK298242;AK298339;AK300946;AMYH01006918;BC058928;BQ879097;CH471101;M22324;M55522;NM_001150;X13276 AAA51719;AAA83399;AAH58928;AAQ09003;BAD93155;BAG60413;BAG60508;BAG60587;BAG62575;CAA31640;CAD19802;CAD19822;CAD20931;EAX02067;EAX02068;NP_001141;P15144 Hs.1239 1775628;1795360;2125204;2127680;2183227;2189373 ANPEP_1718;D15S1186;D15S1289;D2S2822;MARC_3220-3221:991936916:1;STS-F04048 APN;CD13;GP150;LAP1;P150;PEPN AP-M;AP-N;OTTHUMP00000194690;alanyl (membrane) aminopeptidase;alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150);alanyl aminopeptidase;aminopeptidase M;aminopeptidase N;hAPN;microsomal aminopeptidase;myeloid plasma membrane glycoprotein CD13 APPROVED protein-coding ENSG00000166825 500 01055 151530 REVIEWED 1321615 ANP32E acidic (leucine-rich) nuclear phosphoprotein 32 family, member E 1 1 1 q21.2 123306449 123324235 - 148457479 148475082 - 150190717 150208504 - 1580863;6480464 16381901;15895553;15635413;15489336;15489334;14702039;12477932;12438741;11230166;11076863;8125298;16712791;11256614;16344560;17643375;8889548;16226712;22863883;22939629;21800051;18685789;21987572;19471022;21139048;21693764;21890473;21906983;21963094;23000965;23667531;19836239;22053931;22174317;22505724;22944692 81611 E9PI45;E9PLC4;E9PPH5;H0YCE2;Q5TB19;Q5TB25;Q9BTT0 ABBA01049326;ABBA01049327;AC242988;AK025624;AK092672;AK095228;AK223469;AK303333;AK303392;AL138795;AL832664;AL832674;AL833660;AMYH01001373;AY057381;BC003380;BM974388;CB123292;CH471121;DA379137;NM_001136478;NM_001136479;NM_030920 AAH03380;AAL25814;BAC03942;BAC04505;BAD97189;BAG64397;BAG64448;CAI22806;CAI22807;CAI22808;CAI22809;CAL37954;EAW53575;EAW53576;EAW53577;EAW53578;EAW53579;NP_001129950;NP_001129951;NP_112182;Q9BTT0 Hs.656466 1686218;1697178;2179397;2218222 AL009464;ANP32E__4315;RH102078;RH93887 LANP-L;LANPL;MGC5350 LANP-like protein;OTTHUMP00000014533;OTTHUMP00000014534;OTTHUMP00000037718;OTTHUMP00000231932;acidic leucine-rich nuclear phosphoprotein 32 family member E;leucine-rich acidic nuclear protein like protein-coding ENSG00000143401 16673 16493 609611 VALIDATED 1346318 ANTXR2 anthrax toxin receptor 2 This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 4 4 q21.21 81045749 81213277 - 80822771 80994477 - 1599125;1599126;1580863;6480464;7240710 14508707;17054395 15044490;16564009;19240061;19191226;16473908;16401723;16344560;15725249;15489334;15337774;15326297;15243628;15231748;15079089;14702039;12973667;12700348;12551953;12477932;11683410;9847074;20331448;17183731;19858192;20062062;20652271;21041274;21328543;20080640;22855243;21139048;21890473;21906983;22118297;22383261;21743469;22315420;20301698;23000965 118429 J3KPY9;P58335 AB209913;ABBA01063399;ABBA01063400;AC097711;AC109518;AC114773;AK023450;AK055636;AL110207;AL831848;AL832851;AMYH01014336;AMYH01014337;AMYH01014338;AMYH01014339;AMYH01014340;AMYH01014341;AMYH01014342;AMYH01014343;AY040326;AY233452;BC034001;BC042596;BC047345;BC107876;BC114374;BG235895;BM989747;BQ432519;CH471057;DA194583;DA989889;DB280658;NG_015987;NM_001145794;NM_058172 AAH34001;AAI07877;AAI14375;AAK77222;AAP04016;AAY40907;BAB70976;BAD93150;CAI46157;EAX05848;EAX05849;EAX05850;NP_001139266;NP_477520;P58335 Hs.162963 1642896;1652146;1662841;1670802;1770846;1775760;1851420;1852217;1857418;2149646;2153751;2163978;2167035;2173560;2176941;5092790;5111272 A006E32;AFM358tf9;D4S2435;D4S3243;D4S3348;G16717;G32331;G34526;NIB450;RH17514;SHGC-25128;SHGC-25175;SHGC-59243;SHGC-59835;SHGC-60119;SHGC-8625;WI-8895 CMG-2;CMG2;FLJ31074;HFS;ISH;JHF;MGC111533;MGC45856 OTTHUMP00000200884;OTTHUMP00000200885;OTTHUMP00000200886;OTTHUMP00000200887;anthrax toxin receptor 2;capillary morphogenesis gene 2 protein;capillary morphogenesis protein 2 APPROVED protein-coding ENSG00000163297 21732 07452 228600;608041 REVIEWED 1316801 ANXA13 annexin A13 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 8 8 8 q24.13 120881263 120937857 - 124762215 124818828 - 124693034 124749647 - 1580863;6480464 1530946;14718574;11961095;11581287;10871286;10737800;9503022;12477932;8125298;18029348;20701074;21139048;21184583;22219177 312 E5RIN3;P27216 ABBA01037883;AC011134;AC135166;AJ306450;AK057781;AK223374;AK290281;AMYH01019005;AW296908;AW854063;BC125158;BG823061;CH471060;CR541838;NM_001003954;NM_004306;Z11502 AAI25159;BAD97094;BAF82970;CAA77578;CAC34622;CAG46637;EAW92046;EAW92047;EAW92048;NP_001003954;NP_004297;P27216 Hs.181107 1703414;1750865;2114426;2131330 D8S1979;D8S2044;SHGC-104642;SHGC-68785 ANX13;ISA;MGC150460 OTTHUMP00000228108;OTTHUMP00000228109;annexin A13;annexin XIII;annexin, intestine-specific;annexin-13;intestine-specific annexin APPROVED protein-coding ENSG00000104537 536 03984 602573 REVIEWED 1316162 ANTXR1 anthrax toxin receptor 1 This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008] 2 2 p13.1 69093993 69329806 + 69240276 69476459 + 6480464;7240710 14507921;16564009;17081983;16762926;16401723;16141341;15993844;15777794;15689409;15489334;14759258;14755251;14702039;12700348;12477932;11709713;11700562;11574549;11559528;10947988;10545197;8889548;8125298;21129411;19440709;19817382;19834535;20221438;17207965;20585457;21206026;21079738;22303962;22340594;23607659;20360068;21829615;22085271;21965755;21573768;21987572;21139048;21890473;21906983;21998595;19322201;22912819;21963094;23000965;23602711 84168 H0YC24;Q53FL1;Q96EC6;Q9H6X2 ABBA01075491;ABBA01075492;ABBA01075493;ABBA01075494;ABBA01075495;AC112230;AC114802;AF090095;AF279145;AF421380;AK001463;AK002160;AK025429;AK126783;AK223273;AK292113;AK309553;AMYH01010419;BC012074;BC012475;BU687536;CF126791;CH471053;CS430823;DC360415;DC361072;JX424838;JX424839;NG_012649;NM_018153;NM_032208;NM_053034 AAH12074;AAH12475;AAK52094;AAL26496;AAX88860;AAY24067;ACE87019;ACE87706;ADQ31687;AFQ94038;AFQ94039;BAA91707;BAB15128;BAD96993;BAF84802;CAL60148;EAW99855;EAW99856;EAW99857;EAW99858;NP_060623;NP_115584;NP_444262;Q9H6X2 Hs.165859 1644440;1645693;1660068;1661118;1673344;1673997;1683511;1716939;1720033;1734968;1753949;1755673;1846725;1848977;2164447;2185111 A004S16;D2S1716E;G29341;RH121849;RH123811;RH46382;RH48247;RH69248;RH69279;RH91771;SHGC-142518;SHGC-35027;SHGC-57423;SHGC-89350;WI-16379;WI-18140 ATR;FLJ10601;FLJ11298;FLJ21776;TEM8 2310008J16Rik;2810405N18Rik;OTTHUMP00000159975;OTTHUMP00000202140;OTTHUMP00000202171;anthrax toxin receptor 1;tumor endothelial marker 8 APPROVED protein-coding ENSG00000169604 21014 05913 602089;606410 REVIEWED 1318989 ANXA10 annexin A10 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] 4 4 4 q33 166343539 166438757 + 169250282 169345468 + 169013688 169108893 + 1580863;6480464 10458909;18029348;15489334;12477932;12000734;16712791;16341674;19582876;20664964;21175800;21979422;21906983;23029062 11199 Q9UJ72 ABBA01070325;ABBA01070326;AC068989;AC095051;AF196478;AJ238979;AMYH01014695;AMYH01014696;AY626137;BC007320;BM768053;CB163976;CH471056;NM_007193 AAF06672;AAH07320;AAT42216;ABW03531;CAB51917;EAX04810;NP_009124;Q9UJ72 Hs.188401 1719885;2107833 ANXA10_7997;RH123635 ANX14 OTTHUMP00000219959;annexin 14;annexin A10;annexin-10;annexin-14 APPROVED protein-coding ENSG00000109511 534 09724 608008 REVIEWED 1344486 ANXA2P3 annexin A2 pseudogene 3 10 10 10 q21.3 59854487 59855837 + 66255291 66256640 + 66585285 66586634 + 6480464 2174397;20339536 305 ABBA01019520;AC069020;AMYH01002781;M62895;NR_001446 Hs.591361 ANX2L3;ANX2P3;LIP2;LPC2C pseudo 540 PROVISIONAL 1346050 ANXA2P1 annexin A2 pseudogene 1 4 4 4 q31.3 151553153 151554495 - 154448071 154449413 - 154228621 154229963 - 6480464 2174397;1611909 303 ABBA01070135;AC013477;AMYH01014627;M62896;NR_001562 Hs.546235 1687860;2138525 D15S1185;RH66139 ANX2L1;ANX2P1;LPC2A pseudo 538 VALIDATED 1347050 ANXA2P2 annexin A2 pseudogene 2 9 9 9 p13 33556028 33557326 + 33614223 33615532 + 33624223 33625532 + 6480464 19615732;2969496;2174397;21145461;21555518;20000738;21906983 304 A6NMY6 ABBA01065043;AL139008;AMYH01019324;M62898;NG_001337;NR_003573 A6NMY6 Hs.534301 1687860;1745631;1792528 GDB:626485;PMC152906P1;RH66139 ANX2L2;ANX2P2;LPC2B pseudo ENSG00000231991 539 VALIDATED 730873 ANXA1 annexin A1 Annexin I belongs to a family of Ca(2+)-dependent phospholipid binding proteins which have a molecular weight of approximately 35,000 to 40,000 and are preferentially located on the cytosolic face of the plasma membrane. Annexin I protein has an apparent relative molecular mass of 40 kDa, with phospholipase A2 inhibitory activity. Since phospholipase A2 is required for the biosynthesis of the potent mediators of inflammation, prostaglandins and leukotrienes, annexin I may have potential anti-inflammatory activity. [provided by RefSeq, Jul 2008] 9 9 q21.13 74956601 74975127 + 75766781 75785307 + 734574;1580863;734965;2306888;2306896;2306907;2306939;2306898;2306914;2306928;2306942;2306950;2306952;2306954;2306889;2306948;2306920;2306905;2306910;2306891;1599668;2325722;2325723;6480464 2530899;12368905;11423489;17653046;15784654;9514092;16316942;10603033;10403283;9472682;9222544;9022675;8755646;17994624;9269316;10489933;16034371;11641252;17917587;16109804;19173988;17974280 22929401;22056994;2967291;10908733;10882119;16130169;2936963;19289595;19208747;19204938;19104500;19101730;19076685;18794547;18776816;18706208;18673418;18663355;18652761;18594025;18566442;18297688;18164291;17971499;17932043;17873281;17681950;17372018;17340616;17317721;17215481;17081983;17023068;17019707;17008549;16984915;16973129;16949910;16899607;16883066;16741918;16675446;16627980;16530434;16460738;16324197;16100712;16014420;15944914;15883023;15592455;15581623;15526283;15489334;15485879;15476183;15447985;15187149;15168732;15157173;15064349;14733945;14633604;14506282;12859969;12679902;12645011;12477932;12236584;12165536;11759108;11574426;11468004;10512675;9915835;9459484;8955167;8587144;8557678;8453382;8425544;3303336;2971450;2969496;2532504;2457390;1832554;1670773;1602151;17353931;22586326;22610094;22613333;22773844;20549082;20665809;21412170;18577758;20359522;20562859;20679535;1374236;17626739;18029348;18396684;19351789;19428102;19596235;19615732;19767728;19850308;20007579;20025479;20061392;20237496;20308542;2138016;21254404;20962261;20163912;20353277;20558817;20713499;20872967;19394292;20821804;20970165;19913121;20628086;20398702;16226712;20930115;21195640;20924191;21365324;21122411;21127395;22777765;22939629;22909323;23106098;22723974;21420379;21398608;15047060;21800051;21383699;22736399;20602103;17676665;22505724;15161933;21836070;21900206;21139048;21890473;21906983;22116825;23413360;23824909;12689596;22164217;21132403;22640735;21903368;22378018;21145461;21319273;22701020;23029153;18850631;23341933;23154128;19738201;21963094;22304920;22623428;22792315;23000965;23241962;23277546 301 P04083;Q5T3N0;Q5T3N1;Q5TZZ9 AB451274;AB451401;ABBA01033867;AK074480;AK296808;AL359997;AMYH01021409;BC001275;BC018683;BC034157;BC035993;BT019896;BT019916;BT019917;CH471089;CR407684;GU997628;NM_000700;U25414;X05908 AAH01275;AAH34157;AAH35993;AAV38699;AAV38719;AAV38720;ABM82099;ABM85264;ADZ76495;BAG59381;BAG70088;BAG70215;CAA29338;CAG28612;EAW62545;EAW62546;EAW62547;EAW62548;EAW62549;EAW62550;NP_000691;P04083 Hs.494173 1645301;1649029;1652664;1667382;2123198;2177746;5017961;5093836 A009X30;ANXA1;G32952;RH68409;SHGC-12349;SHGC-13051;STS-H67867;STS-U25414 ANX1;LPC1 OTTHUMP00000021474;OTTHUMP00000021475;annexin A1;annexin I (lipocortin I);annexin-1;calpactin II;calpactin-2;chromobindin-9;lipocortin I;p35;phospholipase A2 inhibitory protein APPROVED protein-coding ENSG00000135046 533 01060 151690 REVIEWED 1320510 ANXA11 annexin A11 This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain the calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, May 2013] 10 10 q23 81904860 81955308 - 81914880 81965328 - 1580863;6480464 12577318;7508441;19345290;19165924;17081065;16189514;15489334;15197175;14702039;12805373;12601007;12477932;12445460;11883939;11013079;10037139;9503022;9268363;8639854;8125298;1602151;1299619;16169070;21145461;16385451;18256029;19484149;19724273;9188810;20093723;20093729;20805159;22939629;22053931;20458337;21562576;20691033;22586326;21139048;21890473;21906983;16344560;23579219;23151485;22936702;23144326;23000965 311 B4DVE7;H0Y6E1;P50995;Q5T0G7;Q5T0G8;Q5T0G9 AB209770;ABBA01003807;ABBA01003808;ABBA01003809;AJ278463;AJ278464;AJ278465;AK000567;AK056107;AK126287;AK222918;AK298362;AK300509;AK301047;AL356095;AL357617;AL513174;AMYH01002882;BC007564;BT019934;CH471142;CR450323;DA558997;L19605;NM_001157;NM_001278407;NM_001278408;NM_001278409;NM_145868;NM_145869 AAA19734;AAH07564;AAV38737;ABM84429;ABM87480;BAD93007;BAD96638;BAG51628;BAG54303;BAG60604;BAG62659;BAH13296;CAB94995;CAB94996;CAB94997;CAG29319;EAW80399;EAW80400;EAW80401;EAW80402;EAW80403;EAW80404;EAW80405;NP_001148;NP_001265336;NP_001265337;NP_001265338;NP_665875;NP_665876;P50995 Hs.530291 1797284;2128279;2136356;5122071;5491940 ANXA11;ANXA11_1921;D10S2353;STS-N35254;WI-17317 ANX11;CAP50 56 kDa autoantigen;CAP-50;OTTHUMP00000019955;OTTHUMP00000019956;OTTHUMP00000019957;OTTHUMP00000019958;annexin A11;annexin XI;annexin-11;autoantigen, 56-kD;calcyclin-associated annexin 50 APPROVED protein-coding ENSG00000122359 535 03983 602572 REVIEWED 735865 ANXA3 annexin A3 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008] 4 4 q21.21 79691766 79750629 + 79472742 79531605 + 1580863;6480464 16130169;16236264;16169070;15489334;12665801;12477932;10662590;10391209;8889548;8639653;8626524;8276419;2975506;2968983;2159184;2138632;1830024;17207965;17205602;20103635;2138016;7526843;9497492;9550422;20167856;21055154;21137070;22939629;18029348;22189913;21906983;22446963;16009940;21132403;22558069;21435174;21890473;22304920;23000965;23011854 306 D6RA82;D6RAZ8;D6RCA8;D6RFG5;D6RFJ9;P12429 AB209868;ABBA01063381;ABBA01063382;ABBA01063383;AC104808;AK313945;AMYH01014330;BC000871;BU674495;BX336217;CH471057;CR407648;L20591;M20560;M63310;NM_005139 AAA16713;AAA52284;AAA59496;AAH00871;ADQ32626;BAD93105;BAG36663;CAG28576;EAX05822;EAX05823;EAX05824;NP_005130;P12429 Hs.480042 1658258;1683529;1687095;1690994;1743023;1771450;2114544;2116409;2128299;2171653 D4S3345;D4S451;GDB:249615;RH10990;SHGC-24222;SHGC-59531;SHGC-59532;SHGC-67306;SHGC-67856;SHGC4-147 ANX3 35-alpha calcimedin;Annexin III (lipocortin III);OTTHUMP00000160701;OTTHUMP00000219237;OTTHUMP00000219238;PAP-III;annexin A3;annexin III (lipocortin III, 1,2-cyclic-inositol-phosphate phosphodiesterase, placental anticoagulant protein III, calcimedin 35-alpha);annexin-3;calcimedin 35-alpha;inositol 1,2-cyclic phosphate 2-phosphohydrolase;lipocortin III;placental anticoagulant protein III APPROVED protein-coding ENSG00000138772 541 00111 106490 REVIEWED 1317074 ANXA8 annexin A8 This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. 10 q11.2 47216926 47233047 + 1580863;2325733;2325735;6480464 19376120;18223320 16638567;16344560;16203777;15928709;12477932;11917092;9373149;8045287;8018923;2530088;1364010;1313714 244 B4DKI1;B4DTC9;P13928;Q53FY2;Q5VT78;Q5VT79;Q5VTM3;Q96H89 AK223149;AL603965;BC008813;CR603162;CR608186;DA698972;NM_001630;X16662 AAH08813;ABM84356;BAD96869;CAA34650;CAH70574;CAH70575;NP_001621;P13928;Q53FY2;Q5VT78;Q5VT79;Q96H89 Hs.651104 5096416 SHGC-12720 ANX8;FLJ32754;VAC beta protein-coding 546 03866 602396 1605501 ANXA2R annexin A2 receptor 5 5 5 p12 42928300 42929565 - 43074939 43076098 - 43039182 43040447 - 18636554;16895901;15146197;12477932;10359570;22223826;19322201;23640736 389289 Q3ZCQ2 ABBA01024244;AC025171;AMYH01015053;AY032883;BC067873;BQ670161;CH471119;CN261477;NM_001014279 AAH67873;AAK52335;EAW56037;EAW56038;NP_001014301;Q3ZCQ2 Hs.529385 1668102 RH41910 AX2R;AXIIR;C5orf39 annexin II receptor;annexin-2 receptor APPROVED protein-coding 33463 18393 611296 VALIDATED 1350124 ANXA8L2 annexin A8-like 2 414306 E7EVD9;F5GX16 5096416 SHGC-12720 23335 735938 ANXA4 annexin A4 Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. [provided by RefSeq, Jul 2008] 2 2 p13 69862156 69907095 + 69969127 70053596 + 1580863;6480464 22056994;2970257;16130169;18029348;18164291;17363042;16954445;16687573;16021519;15952740;15489334;15145526;12477932;12324456;10978337;10949146;10883672;10708762;9720986;9084877;8889548;8882729;8798684;8631806;8002935;2975506;2974032;2530088;2254922;2148260;2143074;1346776;19598262;19955935;20379614;2138016;20237821;19913121;20628086;20648654;22883517;22939629;22970268;20602103;21800051;20000738;21348943;17676665;22847161;18781797;20360068;21139048;21890473;21900206;21906983;19471022;21044950;22053931;23000965;23362303;23290009 307 B4DDF9;P09525;Q6LES2;Q6P452 AB209457;ABBA01075512;ABBA01075513;ABBA01075514;AC019206;AC092431;AC112787;AK058017;AK293177;AK293396;AK293406;AK303960;AK315511;AMYH01010422;AMYH01010423;AY453398;BC000182;BC011659;BC063672;BE886769;BX641114;CB305705;CH471053;CR407681;D78152;M19383;M82809;NM_001153 AAA51740;AAC41689;AAH00182;AAH11659;AAH63672;AAS47515;AAY14864;ABM83780;ABM87100;BAA11227;BAD92694;BAG37892;BAG56720;BAG56905;BAG56913;BAG64884;CAE46052;CAG28609;EAW99844;NP_001144;P09525 Hs.422986 1710230;1768411;1797286;2120994;2144581;2170185;2186319;5020274;5024761 ANXA4_2332;D2S2560;D2S2862;L18441;RH1484;RH36905;RH65876;SHGC-15259;SHGC-83751 ANX4;DKFZp686H02120;MGC75105;PIG28;ZAP36 35-beta calcimedin;OTTHUMP00000160052;OTTHUMP00000202207;P32.5;PAP-II;PP4-X;annexin A4;annexin IV (placental anticoagulant protein II);annexin-4;carbohydrate-binding protein p33/p41;chromobindin-4;endonexin I;lipocortin IV;placental anticoagulant protein II;proliferation-inducing gene 28;proliferation-inducing protein 28;protein II;zap 36/annexin iv APPROVED protein-coding ENSG00000196975 542 00112 106491 REVIEWED 736099 ANXA2 annexin A2 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 q22.2 58426642 58477477 - 60639350 60690185 - 1578382;1580863;1300285;2306888;2325731;2325728;2317307;6480464 15784727;14702107;11423489;16450333;20493868;19260470 16289162;16230353;16177123;16100712;15952740;15951569;15944914;15940368;15881658;15849182;15788416;15635413;15574370;15567461;15554585;15526283;15489334;15471954;15388255;15302870;15257287;15226372;15211578;15070701;15064349;15051937;15009185;14995994;14991775;14702039;14699089;14672933;14613585;14522961;14506282;14504107;13679511;12730231;12699894;12660155;12629510;12628297;12477932;12468550;12045186;11978811;11790298;11781322;11295233;11108961;11106497;10809787;10777578;10512675;10213612;10077593;9515022;8955167;8898866;8834809;8636985;8449982;8125298;8117306;8110754;7851890;7821789;7518469;7510700;2969496;2946940;2456953;2174397;2148288;1999197;1825830;1602151;1531641;16940516;3013422;7961821;19513064;19325895;19289089;19176991;19020748;19016789;18990701;18924133;18799458;18712570;18636554;18565825;18502476;18494762;18434302;18389276;18384219;18332131;18289715;18262347;18211896;18174463;18164291;18084608;18008140;17999956;17971878;17824845;17709546;17581860;17513451;17441315;17244347;17239928;17081983;17081065;17065584;16989986;16984913;16963080;16882661;16797773;16709165;16643892;16565220;16524621;16501079;16493010;16331566;21146216;16526095;9886297;12171929;17353931;22587461;20826156;20225235;17620599;22266860;22822523;22493182;17254974;17626749;19022301;19339807;19380152;19556289;19585213;19605586;19642359;19656851;19724273;19764771;19823170;19885616;19951950;20015551;20018898;20047591;20079732;20121258;20335258;20379614;20540360;2138016;17711622;15166316;20947498;20970165;20093721;20093722;20847146;19913121;20628086;20702651;20407807;21033036;11866539;16226712;21193750;21237296;19954599;21122411;22679123;22830395;22957061;22939813;18160415;23106098;23148505;23383273;9184228;21330046;19549357;22879587;21182205;22681645;22863883;18850631;23402259;23522334;9315650;23558678;22645245;20000738;20561442;21572519;15161933;16051665;21645192;8692841;21900167;15047060;21976520;19380743;19912576;21841072;22004035;22859294;10409742;19596686;20849852;21886777;21908427;21849434;22141411;20229030;21603851;22044461;21491466;22223826;22230505;22452352;14741744;12938929;21139048;21817168;21890473;21906983;21372205;21918681;21987572;23226323;21110914;22913982;23741361;23824909;21809360;22235123;16009940;17361185;21044950;21132403;19471022;21928315;22452176;22301157;18172692;21145461;21319273;22705595;23188673;22917188;23275167;19738201;19805454;20706999;21150319;21565611;21963094;22053931;22623428;22792315;22936677;23000965;23091277;23091278;23334362;23494179;21832049;22848640;22939629;22940583 302 H0YKL9;H0YKN4;H0YKS4;H0YKV8;H0YKX9;H0YKZ7;H0YL33;H0YLE2;H0YLV6;H0YM50;H0YMD0;H0YMD9;H0YMM1;H0YMT9;H0YMU9;H0YMW4;H0YN28;H0YN42;H0YN52;H0YNA0;H0YNB8;H0YNP5;P07355 AA661718;ABBA01038951;ABBA01038952;AC087385;AK092006;AK124427;AK222542;AK297923;AK309356;AMYH01006690;AMYH01006691;AW087150;BC001388;BC001748;BC009564;BC013843;BC015834;BC016774;BC021114;BC023990;BC052558;BC052567;BC066955;BC068065;BC093056;BT007432;BX640598;CH471082;CQ878716;D00017;D28364;NM_001002857;NM_001002858;NM_001136015;NM_004039 AAH01388;AAH09564;AAH15834;AAH16774;AAH21114;AAH23990;AAH52558;AAH52567;AAH66955;AAH68065;AAH93056;AAP36100;ABM81934;ABM85113;BAA00013;BAA05730;BAG52463;BAG60240;CAE45704;CAH59520;EAW77582;EAW77583;EAW77584;EAW77585;EAW77586;EAW77587;NP_001002857;NP_001002858;NP_001129487;NP_004030;P07355 Hs.511605 1644802;1687860;1688955;1745631;1792528;2138525;5016781 D15S1185;D15S1292;GDB:626485;PMC152906P1;RH15753;RH66139;SHGC-67307 ANX2;ANX2L4;CAL1H;LIP2;LPC2;LPC2D;P36;PAP-IV OTTHUMP00000163650;annexin A2;annexin II;annexin-2;calpactin I heavy chain;calpactin I heavy polypeptide;calpactin-1 heavy chain;chromobindin 8;chromobindin-8;lipocortin II;placental anticoagulant protein IV;protein I APPROVED protein-coding ENSG00000182718 537 01061 151740 REVIEWED 734268 ANXA5 annexin A5 The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. The gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa. [provided by RefSeq, Jul 2008] 4 4 q27 122808598 122837626 - 122589152 122618147 - 1578384;1580863;2317541;2317543;2317538;2317542;6480464;7241853;7241858;7242028;7242029;7242031;7242030 16025836;16501019;8814351;19488907;12200370;11271515;8056721;21918686;21124692;17999093;20648654 2967495;8667030;16130169;11256614;19345290;19238444;19234085;19056482;18977990;18951241;18773956;18703851;18462735;18384219;18164291;17893975;17869070;17766279;17681182;17408414;17363042;17339269;17137622;17053060;16916647;16785226;16704958;16670301;16579937;16449315;16389029;16381901;15952740;15692104;15634283;15526283;15489336;15489334;15381697;15286043;15280367;15242878;15242332;15173196;14764526;14710359;12871462;12798778;12769841;12732504;12477932;12102261;11773704;11076863;10903505;10329451;9584197;9435213;9398511;8834809;8495746;8045287;8034319;7958998;7519374;2974032;2968983;2967291;2964863;2963810;2960376;2957692;2532007;2455636;2148156;2147412;1683830;1602151;1397263;1311770;1310621;16169070;20705065;22266906;17540176;19372761;19461527;19578796;19639233;19652881;19799864;19810772;19846818;20174767;2138016;20542876;20532885;20643388;20805002;21067452;21078669;21832049;22463102;22939629;23383273;23284897;21185149;21685187;22879587;19596686;20360068;21426764;20000738;21289001;17676665;19639585;21563266;22053931;22728018;22807456;21741441;22174207;19471022;21450308;22452176;22341596;22635237;12689596;18781797;21139048;21693764;21890473;21906983;16009940;21044950;21298269;22425772;22536838;22804929;21319273;22624674;21963094;21988832;22304920;23000965;23724626;19620076 308 D6RBE9;D6RBL5;D6RCN3;E9PHT9;P08758 ABBA01044728;ABBA01044729;AC096730;AK297909;AK312644;AMYH01014492;AY577779;BC001429;BC004993;BC012804;BC012822;BC018671;BC032093;CH471056;CR536522;CR541842;D00172;J03745;M18366;M19384;M21731;NG_032042;NM_001154;U01681;U01691;U05770;X12454 AAA35570;AAA36166;AAA52386;AAB40047;AAB59545;AAB60648;AAH01429;AAH04993;AAH12804;AAH12822;AAH18671;AAY40954;ABM82870;ABW03461;ABW03769;BAA00122;BAG35528;BAG60228;CAA30985;CAG38759;CAG46640;CAL38022;EAX05256;EAX05257;EAX05258;EAX05259;EAX05260;NP_001145;P08758 Hs.480653 1657939;1684010;1725703;1739051;1770139;1775143;2131277;2170965;2217012;5124144;7187404 ANXA5_3263;D4S2700;D4S3274;G62114;SHGC-50259;SHGC-59736;SHGC-67991;SHGC-8558;SHGC4-1011;WI-18730 ANX5;ENX2;PP4;RPRGL3 CBP-I;OTTHUMP00000164026;OTTHUMP00000219982;OTTHUMP00000219983;OTTHUMP00000219985;PAP-I;VAC-alpha;anchorin CII;annexin 5;annexin A5;annexin V;annexin-5;calphobindin I;endonexin II;lipocortin V;placental anticoagulant protein 4;placental anticoagulant protein I;thromboplastin inhibitor;vascular anticoagulant-alpha APPROVED protein-coding ENSG00000164111 543 00568 131230;614391 REVIEWED 6481095 AOAH-IT1 AOAH intronic transcript 1 (non-protein coding) 7 36637440 36639726 - 100874264 AACC02000036;ABBA01056908;AC087069;AMYH01017181;CH236951;NR_046764 Hs.690994 miscrna 41307 PREDICTED 733718 ANXA6 annexin A6 Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010] 5 5 q33.1 150460461 150517560 - 150480267 150537443 - 1580863;6480464 15576473;19345290;18786929;18245088;18164291;17824845;17822395;17081065;16674946;16153422;15489334;15355961;15242332;15226301;14702039;12885247;12534274;12477932;12140262;11696438;10618640;10571081;9883272;9515022;9195978;8834809;8798684;8709144;8146179;7698768;3258820;2963335;2731935;2528541;2139657;1831222;1420329;16169070;14530271;7753047;22586326;9480874;20888375;21185831;21145461;19322030;19386597;19900398;2138016;20363475;21216236;21119665;17893145;22863883;22797061;15047060;16944923;20000738;21672540;22053931;22505724;18781797;21990038;21139048;21890473;21906983;22399299;20706999;21963094;23000965;23341998;23349634 309 A6NN80;E5RFF0;E5RI05;E5RIU8;E5RJF5;E5RJR0;E5RK63;E5RK69;E7EMC6;H0YC77;P08133 ABBA01026265;ABBA01026266;ABBA01026267;ABBA01026268;AC008641;AI566871;AK126836;AK130077;AK290672;AK298582;AK303078;AMYH01015710;AMYH01015711;BC017046;BM904172;BQ924484;CH471062;D00510;DC411634;J03578;NM_001155;NM_001193544;X77673;Y00097 AAA35656;AAH17046;ABM82536;ABW03390;BAA00400;BAC85290;BAC86715;BAF83361;BAH12818;BAH13893;CAA68286;EAW61684;EAW61685;EAW61686;EAW61687;NP_001146;NP_001180473;P08133 Hs.412117 1744153;1757987;1758117;1758529;1772377;1781006;2136362;2145830;2147016;2217014;5491794 ANXA6;ANXA6_2739;GDB:392715;RH44551;RH47466;SGC34325;SHGC-147039;SHGC-147435;SHGC-148636;STS-AA031316;bac5670S ANX6;CBP68 67 kDa calelectrin;CPB-II;OTTHUMP00000226119;OTTHUMP00000226120;OTTHUMP00000226122;annexin A6;annexin VI (p68);annexin-6;calcium-binding protein p68;calelectrin;calphobindin II;calphobindin-II;chromobindin-20;lipocortin VI;p68;p70 APPROVED protein-coding ENSG00000197043 544 00231 114070 REVIEWED 731625 ANXA7 annexin A7 Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008] 10 10 q22.2 74805210 74843809 - 75135189 75173841 - 734966;1580863;2292654;2292656;2292655;6480464 10570150;17708571;11287641;15073110 12445460;19602687;18449914;17112522;17018618;15489334;14519201;12477932;11994295;11839755;11338180;11278415;10672515;9268363;8125298;8053909;7738119;7515686;2542947;1825209;1533123;21145461;20936779;16385451;18256029;20190808;20858460;20093729;22939629;21432772;21531385;21586441;21800051;22053931;20691033;21139048;21900206;21906983;19322201 310 B2R657;B4DT77;B9ZVT2;P20073 AB062429;ABBA01020326;ABBA01020327;AK222552;AK295319;AK300086;AK301681;AK307772;AK309141;AK312447;AK313024;AL353731;AL512656;AMYH01002828;AW518993;BC001322;BC002632;BT007187;CH471083;CR407686;DC367313;J04543;M64272;NM_001156;NM_004034 AAA36616;AAH02632;AAP35851;BAB93492;BAD96272;BAG35354;BAG35859;BAG58296;BAG61889;BAG63154;CAG28614;EAW54493;EAW54494;NP_001147;NP_004025;P20073 Hs.631827 1654451;1797288;2116359;2117833;2175712;5120676;5120678;5120680 ANXA7_2109;GDB:369091;GDB:369094;GDB:369097;RH17592;RH47719;SHGC-12519;WI-11929 ANX7;SNX;SYNEXIN OTTHUMP00000019812;OTTHUMP00000019813;annexin A7;annexin VII;annexin-7 APPROVED protein-coding ENSG00000138279 545 01720 186360 REVIEWED 7247040 AOC4P amine oxidase, copper containing 4, pseudogene 14585497;17385066;20013028;9767118 90586 ABBA01006404;AC016889;AF047485;AF047486;AMYH01008398;NR_002773 Hs.367781 1658515 WI-17817 AOC4 pseudo ENSG00000260105 48869 PROVISIONAL 1343174 AOM arthroophthalmopathy, progressive (Stickler syndrome) 315 551 1354199 ANXA8L1 annexin A8-like 1 10 10 q11.22 46577995 46594046 - 47157989 47174040 - 20360068;12477932;8125298 728113 B4DKI1;F5H7X5;Q5T2P7;Q5T2P8 AC244230;AK223149;AK300191;AK307182;AK313626;AL391137;AMYH01002426;BC008813;DC381265;NM_001098845;NM_001278923;NM_001278924;X16662 AAH08813;BAD96869;BAG36386;BAG61964;CAA34650;CAI12203;CAI12204;NP_001092315;NP_001265852;NP_001265853;Q5T2P8 Hs.705389 5096416 SHGC-12720 ANXA8;VAC-beta;bA301J7.3 OTTHUMP00000019521;OTTHUMP00000019522;VAC-beta;annexin A8-like protein 1;annexin VIII;annexin-8;vascular anticoagulant-beta protein-coding ENSG00000150165 23334 VALIDATED 1344698 AOC2 amine oxidase, copper containing 2 (retina-specific) Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 17 17 17 q21 37652664 37658779 + 38250135 38256250 + 40996609 41002724 + 1580863;6480464;6907045 9119395;15146197;14585497;9722954;19588076;12477932 314 O75106 AB012943;ABBA01006405;AC016889;AF081363;AMYH01008398;BC142641;CA425343;CH471152;CN355968;D88213;DQ060035;NM_001158;NM_009590 AAD39345;AAI42642;AAY43129;BAA19001;BAA32589;BAA32590;EAW60895;EAW60896;NP_001149;NP_033720;O75106 Hs.143102 1648289;1657648;1769215;1770053 RH16239;RH47258;RH68315;STS-U11292 DAO2;RAO SSAO;retina-specific copper amine oxidase;semicarbazide-sensitive amine oxidase APPROVED protein-coding ENSG00000131480 549 11889 602268 REVIEWED 1603491 AOX2P aldehyde oxidase 2 pseudogene 2 2 2 q33.1 195315326 195413857 + 201343640 201367191 + 201560446 201658946 + 6480464 11562361;8889549;20210993;16344560;20800603;23263164;22760553 344454 ABBA01062519;AC007163;AMYH01011400;AY245868;DB346520;JX431285;JX431286;NR_001557 Hs.148269 1696052;1780076;1784174;1847244 G31882;SHGC-154326;SHGC-155145;SHGC-83201 AOH2;AOX2 pseudo 18450 PROVISIONAL 1352405 ANXA9 annexin A9 The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [provided by RefSeq, Jul 2008] 1 1 1 q21 124070194 124083809 + 149221123 149234738 + 150954499 150968114 + 1580863;6480464 10899159;12832069;16710414;15489334;15302935;12477932;9931420;9742942;9165068;16169070;20383146;21832049;19953087;21926416;21983785;22841549 8416 O76027 ABBA01049364;ABBA01049365;AF230929;AJ009985;AK314926;AL590133;AMYH01001386;BC005830;BJ993162;CH471121;CR536481;NM_003568 AAG16780;AAH05830;ABM83945;ABM87263;CAA08933;CAG38720;EAW53496;NP_003559;O76027 Hs.3346 1768131;2217016 ANXA9_2947;SHGC-107 ANX31 OTTHUMP00000033027;annexin 31;annexin A9;annexin XXXI;annexin-31;annexin-9;pemphaxin APPROVED protein-coding ENSG00000143412 547 603319 VALIDATED 1347850 AP1B1P1 adaptor-related protein complex 1, beta 1 subunit pseudogene 1 22 22 22 q12.3 16328763 16328953 + 30858204 30858594 + 32517964 32529456 + 10591208 23782 ABBA01055364;AMYH01012725;BM554504;NR_040114;Z83839 Hs.581098 1802840;1824170;2011508;2011510;2011512;2011514;2011516;2011518;2011520;2011522;2011524;2011526;2011528;2011534;2098330;2098332 ECD02308;ECD13181;REN76676;REN76677;REN76678;REN76679;REN76680;REN76681;REN76682;REN76683;REN76684;REN76685;REN76686;REN76689;stSG602548;stSG602549 ADTB1L1;dJ127L4.2 APPROVED pseudo ENSG00000234479 297 VALIDATED 1350660 AP1B1P2 adaptor-related protein complex 1, beta 1 subunit pseudogene 2 22 22 22 q12.3 16330473 16330574 + 30859914 30860215 + 32530015 32530116 + 10591208 23781 ABBA01055364;AMYH01012725;NG_002624;Z83839 1831154;2011522;2011524;2011526;2011528;2011530;2011532;2011534;2011536;2011538;2011540;2011542;2011544;2011546;2098332;2098334 ECD16713;REN76683;REN76684;REN76685;REN76686;REN76687;REN76688;REN76689;REN76690;REN76691;REN76692;REN76693;REN76694;REN76695;stSG602549;stSG602550 ADTB1L2;dJ127L4.3 APPROVED pseudo 298 INFERRED 1352932 AOAH acyloxyacyl hydrolase (neutrophil) This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010] 7 7 p14-p12 36519134 36730550 - 36552549 36764154 - 1580863;6480464 1883828;16815140;15489334;12477932;8613354;8125298;22723975;8089145;8088847;1987068;15342556;16344560;20237496;20379614;20205591;23251661 313 B7Z598;C9J8T1;C9JJA7;F8WCP9;P28039 AACC02000036;ABBA01056907;ABBA01056908;ABBA01056909;ABBA01056910;AC083876;AC087069;AK223476;AK297016;AK298644;AK308215;AMYH01017181;BC025698;BP310596;CH236951;CH471073;CR748867;DA469735;DC314135;M62840;NM_001177506;NM_001177507;NM_001637 AAA35506;AAH25698;ABM81866;ABM85026;BAD97196;BAH12476;BAH12834;EAL23977;EAW94073;NP_001170977;NP_001170978;NP_001628;P28039 Hs.488007 1645411;1668566;1754535;1755325;1779914;1779980;1786198;1790567;2126054;2145683;2159245;2162966;2175072 AOAH;D7S2717;D7S781;HSC202_(7Gr362mb);RH17719;SHGC-106107;SHGC-132818;SHGC-142211;SHGC-154159;SHGC-154227;SHGC-33300;SHGC-52591;WI-9088 OTTHUMP00000128208;OTTHUMP00000206984;acyloxyacyl hydrolase APPROVED protein-coding ENSG00000136250 548 00027 102593 REVIEWED 732341 AOC1 amine oxidase, copper containing 1 This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013] 7 7 q36.1 150180506 150189312 + 150549573 150558379 + 1298636;1580863;1300048;2315591;2312809;6480464;6907045 8182053;16895983;1632778 8144586;1356107;17985251;17700358;17651147;16489678;15928835;15489334;14702039;12755416;12690205;12477932;12419186;11855874;11603849;10660106;8829374;8645981;8595053;8396495;8195119;7806511;2227949;2217167;1898707;12913069;19670078;19701972;19764817;20062061;20124708;23099198;20602615;21040557;21225906;21488903;12072962;16846222;9399025;22433290;7626074 26 C9J0G8;C9J2J4;C9J690;P19801 AACC02000108;ABBA01035175;AC006343;AK092514;AK296638;AK307278;AK314806;AMYH01018140;AY948960;BC014093;BX648159;CH471173;M55602;NM_001091;NM_001272072;U11862;U11863;X78212 AAA58358;AAB60381;AAC50270;AAH14093;AAX81409;ADZ15523;BAG52564;BAG59239;CAA55046;EAL24490;EAW54081;EAW54082;EAW54083;EAW54084;EAW54085;EAW54086;EAW54087;NP_001082;NP_001259001;P19801 Hs.647097;Hs.733889 ABP;AOC1;DAO;DAO1;KAO OTTHUMP00000212758;OTTHUMP00000212759;OTTHUMP00000212762;OTTHUMP00000212763;OTTHUMP00000212764;amiloride binding protein 1;amiloride-binding protein-1;amiloride-sensitive amine oxidase;amiloride-sensitive amine oxidase [copper-containing];diamine oxidase;histaminase;kidney amine oxidase APPROVED protein-coding ENSG00000002726 80 00088 104610 REVIEWED 733539 AOX1 aldehyde oxidase 1 Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008] 2 2 q33 201158976 201244463 + 201450731 201536218 + 734575;1580863;1300048;6480464;6907045 7570184 8248161;17992631;12477932;11302742;8889548;8043023;12054535;19500084;19741035;19898482;20379614;20800603;16712791;22522748;21988832;23263164;18029348;22031625;22279051;22495427 316 C9J244;H7BXF7;H7C3Q1;Q06278 AB046692;ABBA01062516;ABBA01062517;AC007163;AC080164;AF010260;AF017060;AK297930;AK301052;AK307738;AL079797;AMYH01011399;BC117179;BC117181;BM681054;CB153864;CH471063;FB789700;FB794625;FB798872;FB811643;FB848178;FB866440;FB885306;FB890693;FB896453;GN364811;HB659759;HB664684;HB668931;HB681702;HB718237;HB736499;HB755365;HB760752;HB766512;L11005;NM_001159 AAA96650;AAB83966;AAB83968;AAI17180;AAI17182;AAX93285;AAY24265;BAB40305;BAG60247;BAG62663;CAW36666;CAW39000;CAW41181;CAW47197;CAW63617;CAW71847;CAW80339;CAW82831;CAW86206;CAY77140;CBC02619;CBC04872;CBC06832;CBC12951;CBC45781;CBC62201;CBC79136;CBC84084;CBC89038;EAW70208;EAW70209;NP_001150;Q06278 Hs.406238 1772530;1772557;2160368 G31889;RH11649;WI-9291 AO;AOH1 OTTHUMP00000205961;aldehyde oxidase APPROVED protein-coding ENSG00000138356 553 07537 602841 REVIEWED 1347849 AOC3 amine oxidase, copper containing 3 This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] 17 17 q21 38256727 38263667 + 41003201 41010141 + 1580863;2313821;2313823;2313824;2313825;2313919;2313912;2313915;2313925;2313928;2313820;2313822;2313908;2313827;2313914;2313916;2313819;2313826;2313828;6480464;6907045 16339390;12663473;12606817;12466139;17393059;18312104;17993604;16947396;16397885;19336232;14656718;18436961;11052858;18032635;17977742;19635478;11522499;2218072 22150439;22354146;16335952;16046623;15919838;15830186;15489334;15242332;15057044;14755492;14726375;14715500;14585497;12700900;12477932;12097405;9110174;8619474;1375396;9653080;8972912;18029348;19361461;18991279;18644360;18005095;17490641;17431736;17400359;17393062;17256751;17006978;16806498;16556889;16511016;16507887;16361866;23120772;18853098;19761765;19789505;19861682;20063021;20512991;21282368;21139198;22753196;22618595;21585208;21114364;19764817;21821708;21819380;22714978;21512782;22133888;16344560;21988832;23349812 8639 K7EIK5;K7EL47;K7EQZ5;K7ESB3;L0L8N9;Q16853;Q9UEU7 AB050502;ABBA01006405;AC016889;AF054985;AF067406;AK025727;AK315129;AMYH01008398;BC036368;BC050549;CH471152;DA592022;DB250074;DQ143944;JX020506;NM_001277731;NM_001277732;NM_003734;NR_102422;U39447 AAC09346;AAC25170;AAC50919;AAH50549;AAZ38716;AGB67480;BAB18866;BAG37582;EAW60897;NP_001264660;NP_001264661;NP_003725;Q16853 Hs.198241 1663429;1663431;1675473;1770053;1795362 AOC3_83;RH11943;RH68315;RH81032;WI-20493 HPAO;SSAO;VAP-1;VAP1 amine oxidase, copper containing 3 (vascular adhesion protein 1);copper amine oxidase;membrane primary amine oxidase;placenta copper monamine oxidase;semicarbazide-sensitive amine oxidase;vascular adhesion protein 1;vascular adhesion protein 1 splice variant 2, VAP-1A3 APPROVED protein-coding ENSG00000131471 550 04770 603735 REVIEWED 1347570 AP1AR adaptor-related protein complex 1 associated regulatory protein 4 4 4 q25 110446973 110485290 + 113372430 113410655 + 113152895 113191211 + 737633;6480464 12477932 11256614;16381901;16344560;15815621;15775984;15489336;15489334;15144186;11230166;11076863;8889548;19706427;19965873;20332099;18029348;21525240;21139048;19322201 55435 H0Y8Y4;Q63HQ0 ABBA01063814;AC109347;AF116612;AI273122;AK310787;AK315299;AL136628;AMYH01014468;BC009485;BM974015;BX647702;CH471057;DA463845;NM_001128426;NM_018569 AAF71037;AAH09485;AAY40962;ACE86577;ACE87260;BAG37704;CAB66563;CAH56145;CAL37652;CAL37924;CAL38032;CAL38480;CAL38584;EAX06268;EAX06269;EAX06270;EAX06271;EAX06272;NP_001121898;NP_061039;Q63HQ0 Hs.435991;Hs.606210 1711074;1717343 RH122162;SHGC-86173 2C18;C4orf16;GBAR;PRO0971;gamma-BAR AP-1 complex-associated regulatory protein;OTTHUMP00000163749;OTTHUMP00000219661;adapter-related protein complex 1-associated regulatory protein;gamma-1-adaptin brefeldin A resistance protein;gamma1-adaptin brefeldin A resistance protein, gamma-BAR APPROVED protein-coding ENSG00000138660 28808 12824 610851 VALIDATED 1350470 AP1B1 adaptor-related protein complex 1, beta 1 subunit Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 22 22 q12.2 28053669 28114569 - 29723669 29784572 - 734576;1580863;6480464;6484113 7987321 9733768;15569716;15862967;15752756;15461802;15231748;15063762;12477932;12419313;12070169;11926829;11451993;11409905;11106728;10966473;10931822;10535737;10097102;9707615;8812422;16253302;15681409;12486136;12836198;11463741;9811611;9811606;9736718;11877451;10608806;16009131;21145461;21319273;10737800;11031247;11252894;11694590;12429846;16344560;17290217;20009918;7593184;8975699;9280305;18614564;21444685;12538641;22863883;22939629;22990118;22360420;16196087;22586326;21139048;21890473;21906983;21987572;23383273;10747088;21988832;23000965;23205726;18336259;19149577;19380743;20594957;22103831 162 C9J1E7;H7C034;Q10567 ABBA01055261;AC002059;AI084003;AK294406;AK296567;AK299613;AMYH01012695;AU139022;BC046242;BG999878;BM909530;BX537680;CD364485;CH471095;CT841508;HB900728;HC958137;L13939;NM_001127;NM_001166019;NM_145730;U36267;U36268;Y07848 AAC50684;AAC98702;AAH46242;BAG57658;BAG59187;BAG61541;CAD97809;CAJ86438;CAK54367;CAK54666;CBF79614;CBU99115;EAW59798;EAW59799;EAW59800;NP_001118;NP_001159491;NP_663782;Q10567 Hs.368794 1685524;1705854;1717655;1816194;2011526;2011556;2135244;2218224;5117042 AP1B1__4319;ECD09137;GDB:386099;REN76685;REN76702;RH122132;RH17619;RH27786;SHGC-81187 ADTB1;AP105A;BAM22;CLAPB2 AP-1 complex subunit beta-1;Golgi adaptor HA1/AP1 adaptin beta subunit;OTTHUMP00000199165;OTTHUMP00000199166;OTTHUMP00000199168;adapter-related protein complex 1 subunit beta-1;adaptor protein complex AP-1 subunit beta-1;beta-1-adaptin;beta-adaptin 1;beta-prime-adaptin;beta1-adaptin;clathrin assembly protein complex 1 beta large chain;plasma membrane adaptor HA2/AP2 adaptor beta subunit APPROVED protein-coding ENSG00000100280 554 02541 600157 REVIEWED 1346195 AP1G1 adaptor-related protein complex 1, gamma 1 subunit Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 q23 70320404 70400477 - 71762903 71842976 - 1580863;6480464 12505986;12498786;12477932;12429846;12042876;11950833;11926829;11872161;11451993;11418592;11409905;11331585;11106728;10814529;10747088;10535737;10477754;8125298;11222723;9882340;16253302;15681409;12486136;15469849;9653655;9733768;12536145;15569716;16867982;15775984;15143060;14702039;14665628;12773381;11031247;11252894;11694590;20379614;7593184;16162817;19841138;22863883;12538641;22939629;11387476;17538020;21139048;21906983;17052248;17581864;18073204;18336259;19149577;19895210;20299515;20594957;21543478;21762802;22345475 164 B3KNW1;B3KXW5;B4DGE1;H3BN71;H3BN75;H3BNN2;H3BNR4;H3BPN9;H3BR36;H3BRM7;H3BS13;H3BUN9;H3BV30;J3KQU9;O43747;Q8IY97 AB015317;ABBA01016782;ABBA01016783;ABBA01016784;ABBA01016785;AC009097;AC010653;AJ224112;AJ224113;AJ224114;AK025020;AK055122;AK128078;AK225906;AK293233;AK294546;AK299630;AK314484;AL110198;AMYH01007790;AMYH01007791;BC003414;BC036283;BC051747;BU902252;CH471166;NM_001030007;NM_001128;Y12226 AAH03414;AAH36283;ACE86968;ACE87658;BAA33389;BAG51473;BAG54627;BAG56772;BAG57752;BAG61558;CAA11832;CAA72902;CAB53673;EAW59222;EAW59223;EAW59224;NP_001025178;NP_001119;O43747 Hs.461253 1680801;1684764;1691172;2111394;2142453;2148206;2175481 D16S2532E;D16S3294;RH48231;RH65105;RH65224;SHGC-60759;SHGC-61470 ADTG;CLAPG1;MGC18255 AP-1 complex subunit gamma-1;adapter-related protein complex 1 subunit gamma-1;adaptor protein complex AP-1 subunit gamma-1;clathrin assembly protein complex 1 gamma large chain;clathrin assembly protein complex 1 gamma-1 large chain;clathrin-associated/assembly/adaptor protein, large, gamma 1;gamma adaptin;gamma1-adaptin;golgi adaptor HA1/AP1 adaptin gamma subunit;golgi adaptor HA1/AP1 adaptin subunit gamma-1 APPROVED protein-coding ENSG00000166747 555 04637 603533 REVIEWED 1313902 AP1G2 adaptor-related protein complex 1, gamma 2 subunit Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is compsed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. There are two alternatively spliced transcript variants of this gene encoding the same protein. [provided by RefSeq, Jul 2008] 14 14 q11.2 23098616 23107119 - 24028777 24037279 - 1580863;6480464 12505986;15231747;9733768;9762922;18029348;18772139;17553870;14702039;14665628;12477932;10477754;11222723;9882340;16253302;15681409;12486136;12836198;11463741;9811611;9811606;9736718;10814529;11333915;21658281;20708039;21139048;21890473;21906983;16713569;18336259;19149577;20594957;21762802;22103831;22345475;22505724 8906 G3V2V9;G3V3Z2;G3V532;H0YJ08;H0YJ47;O75843;Q86V28 AB015318;ABBA01061322;AF068706;AK096034;AK123354;AK226158;AK304682;AK307696;AK309103;AK310451;AL135999;AMYH01005604;BC051833;BX161425;BX247963;CH471078;NG_011937;NM_003917 AAC67390;AAH51833;BAA33390;BAG65453;CAD61898;CAD62302;EAW66132;EAW66134;EAW66138;NP_003908;O75843 Hs.343244 1651525;1675005;2120685;2125461;2140713;2150164;2160768;2191125;7186288 A005Y33;D14S104E;D14S671E;HSC22E052;MARC_14914-14915:1012936331:1;RH15730;RH64872;SHGC-24169;STS-AA004314 G2AD AP-1 complex subunit gamma-like 2;OTTHUMP00000164599;OTTHUMP00000164600;clathrin-associated/assembly/adaptor protein, large, gamma-2;gamma2-adaptin APPROVED protein-coding ENSG00000213983 556 04638 603534 REVIEWED 1354372 AP1M2 adaptor-related protein complex 1, mu 2 subunit This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. [provided by RefSeq, Jul 2008] 19 19 p13.2 10544347 10558991 - 10683347 10697991 - 1580863;6480464 17220478;10338135;15569716;18356317;17261850;17145811;16343431;15489334;14702039;12477932;12134076;12086608;12010461;11573956;11157985;10887964;10640811;10535737;9794796;9714795;8810314;8125298;7569928;11222723;9882340;16189514;15182197;11031247;11252894;11694590;17381423;21048031;17207965;21163940;16574660;21139048;21906983;21762802 10053 K7EJJ1;K7EK69;K7EL08;K7EMG5;K7EPI9;K7EPR4;K7ERH5;Q9Y6Q5 ABBA01029910;ABBA01029911;ABBA01029912;AC011475;AF020797;AK023863;AK222946;AK315689;AMYH01009478;BC003387;BC003612;BC005021;BE044092;CH471106;NM_005498 AAD25870;AAH03387;AAH03612;AAH05021;ADQ31755;BAD96666;BAG38052;BAG51230;EAW84124;EAW84125;NP_005489;Q9Y6Q5 Hs.18894 1653301;1699356;2109041;2181521 AP1M2_9035;D18S389;RH103265;STS-R00451 AP1-mu2;HSMU1B;MU-1B;MU1B;mu2 AP-1 complex subunit mu-2;AP-mu chain family member mu1B;HA1 47 kDa subunit 2;adaptor protein complex AP-1 mu-2 subunit;adaptor-related protein complex 1 mu-2 subunit;clathrin assembly protein complex 1 medium chain 2;clathrin coat assembly protein AP47 2;clathrin coat associated protein AP47 2;clathrin-associated adaptor medium chain mu2;golgi adaptor AP-1 47 kDa protein;golgi adaptor HA1/AP1 adaptin mu-2 subunit;mu-adaptin 2;mu1B-adaptin APPROVED protein-coding ENSG00000129354 558 06296 607309 REVIEWED 1316969 AP1M1 adaptor-related protein complex 1, mu 1 subunit The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 p13.12 16169731 16207151 + 16308665 16346156 + 1580863;6480464;6484113 12477932;14691137;15569716;18057255;17988225;16189514;15489334;15182197;14702039;14608369;9812899;9653655;8889548;8810314;7593184;7569928;11222723;9882340;9400603;16253302;11208076;9314527;9052838;9586638;9564030;15681409;12836198;12486136;11463741;9811611;9811606;9736718;12010461;11598115;11591131;11583591;11247301;11157985;11106728;10887964;10809756;10535737;11031247;11252894;11694590;15254094;19060904;20833140;19841138;10814565;22863883;22939629;22301137;21139048;21890473;21906983;10747088;15174051;23000965;23478262;17538020;17581864;18073204;18336259;19149577;20012524;20020046;20594957;21762802;21841072;21917951;22004035;22103831;22190034;22505724;22705789;22767237;22797925 8907 B3KNH5;B4DDG7;E7ENJ6;K7EJL1;K7ENA7;K7EPJ8;K7EQ90;K7EQX3;K7ER75;Q59EK3;Q9BXS5 AB209808;ABBA01051134;ABBA01051135;ABBA01051136;AC020911;AF290613;AK027528;AK293188;AK297824;AMYH01009559;AMYH01009560;AMYH01009561;BC017469;BQ014582;BU729646;CH471106;DC386056;DQ059565;NM_001130524;NM_032493 AAH17469;AAK28024;AAY54246;BAD93045;BAG51337;BAG56728;BAG60161;EAW84539;EAW84540;NP_001123996;NP_115882;Q9BXS5 Hs.71040 2144367;2144597;5093170 A009I07;G32561;RH15920 AP47;CLAPM2;CLTNM;MU-1A AP-1 complex subunit mu-1;AP-mu chain family member mu1A;HA1 47 kDa subunit;adaptor protein complex AP-1 mu-1 subunit;adaptor-related protein complex 1 mu-1 subunit;clathrin adaptor protein AP47;clathrin assembly protein complex 1 medium chain 1;clathrin assembly protein complex 1, medium chain;clathrin assembly protein complex AP1, mu subunit;clathrin coat assembly protein AP47;clathrin coat-associated protein AP47;golgi adaptor AP-1 47 kDa protein;golgi adaptor HA1/AP1 adaptin mu-1 subunit;mu-adaptin 1;mu1A-adaptin APPROVED protein-coding ENSG00000072958 13667 04639 603535 REVIEWED 1314226 AP1S1 adaptor-related protein complex 1, sigma 1 subunit The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008] 7 7 q22.1 100584406 100591277 + 100797686 100804557 + 6480464;7240710 9733768;15569716;19057675;15489334;12853948;12477932;12215646;11707398;10966473;10535737;9847074;9653655;2040623;11222723;9882340;16253302;15681409;12486136;12836198;11463741;9811611;9811606;9736718;7593184;17353931;15469849;11031247;11252894;11694590;16548883;18781797;21139048;21906983;21987572;22939629;10747088;21963094;23000965;23423674;18336259;19149577;19895210;20594957;21762802;22103831 1174 H7C1E4;P61966 AB015319;ABBA01011349;AC004876;AK312151;AMYH01017750;BC003561;BI597121;BI598615;BI857465;BT006779;CH471197;NG_033082;NM_001283 AAD45829;AAH03561;AAP35425;BAA33391;BAG35085;EAW50198;EAW50199;EAW50200;NP_001274;P61966 Hs.489365;Hs.730952 2127513 RH71410 AP19;CLAPS1;FLJ92436;MEDNIK;SIGMA1A;WUGSC:H_DJ0747G18.2 AP-1 complex subunit sigma-1A;HA1 19 kDa subunit;OTTHUMP00000211467;OTTHUMP00000211468;OTTHUMP00000211469;adapter-related protein complex 1 sigma-1A subunit;adaptor protein complex AP-1 sigma-1A subunit;clathrin assembly protein complex 1 sigma-1A small chain;clathrin coat assembly protein AP19;clathrin-associated/assembly/adaptor protein, small 1 (19kD);golgi adaptor HA1/AP1 adaptin sigma-1A subunit;sigma 1a subunit of AP-1 clathrin;sigma-adaptin 1A;sigma1A subunit of AP-1 clathrin adaptor complex;sigma1A-adaptin APPROVED protein-coding ENSG00000106367 559 04635 603531;609313 REVIEWED 1348501 AP1S2 adaptor-related protein complex 1, sigma 2 subunit Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] X X p22.2 15753850 15783021 - 15843929 15873100 - 1580863;6480464;7240710 15681409;15569716;18428203;17617514;17186471;15489334;12477932;12215646;10966473;10398241;9733768;2040623;11222723;9882340;16253302;12486136;12836198;11463741;9811611;9811606;9736718;11031247;11252894;11694590;22939629;21139048;21890473;19322201;18336259;19149577;20594957;21762802;22103831 8905 A6NH01;B4DSU4;B7Z3M9;H0Y673;H7BZG6;P56377;Q549M9 AB015320;ABBA01071359;ABBA01071360;ABBA01071361;AC004106;AF087876;AF091077;AF251295;AK130075;AK296135;AK299921;AK312594;AMYH01022110;BC001117;BC071867;BI462192;BT006738;BX537780;CH471074;DC401898;NG_009274;NM_001272071;NM_003916 AAC72946;AAG44595;AAH01117;AAH71867;AAP35384;AAP97176;ABM81631;ABM84815;BAA33392;BAG61756;BAH12265;CAD97839;EAW98903;EAW98904;EAW98905;EAW98906;EAW98907;EAW98908;NP_001259000;NP_003907;P56377 Hs.121592 1683843;1685295;1694720;1701480;2132226;2139708;2153372;2174053;2179443;2218226 AP1S2__4320;G43551;RH104372;RH16361;RH17799;RH26746;RH47344;RH47350;RH66697;RH91863 DC22;MGC:1902;MRX59;MRXS21;MRXSF;SIGMA1B AP-1 complex subunit sigma-2;OTTHUMP00000022979;OTTHUMP00000022980;OTTHUMP00000022981;OTTHUMP00000022982;adapter-related protein complex 1 sigma-1B subunit;adaptor protein complex AP-1 sigma-1B subunit;clathrin adaptor complex AP1 sigma 1B subunit;clathrin assembly protein complex 1 sigma-1B small chain;clathrin-associated/assembly/adaptor protein small 1-like;golgi adaptor HA1/AP1 adaptin sigma 1B subunit;golgi adaptor HA1/AP1 adaptin sigma-1B subunit;sigma 1B subunit of AP-1 clathrin;sigma-adaptin 1B;sigma1B-adaptin APPROVED protein-coding ENSG00000182287 560 04636 300629;300630 REVIEWED 1323403 AP1S3 adaptor-related protein complex 1, sigma 3 subunit 2 2 2 q36.1 218385952 218468228 - 224328291 224410563 - 224620047 224702319 - 1580863;6480464 15569716;15489334;12477932;11598180;2040623;16253302;15681409;12486136;12836198;11463741;9811611;9811606;9736718;11031247;11252894;11694590;20379614;21906983 130340 B8ZZZ1;C9JZK4;F8W8K9;G5E966;Q96PC3 ABBA01023786;ABBA01023787;ABBA01023788;ABBA01023789;ABBA01023790;ABBA01023791;ABBA01023792;AC012512;AC093884;AF393369;AK025338;AK299026;AMYH01011523;BC009606;BC021898;BE856458;BG177582;BG340480;CH471063;NM_001039569 AAH09606;AAH21898;AAL09586;AAY24166;AAY24244;BAG61103;EAW70813;EAW70814;EAW70815;EAW70816;NP_001034658;Q96PC3 Hs.632555 1337160;1337768;1659300;1759557;5015861;5015961;5016478;5020881;5020946;5022322;5022578;5037552;5109362;7185938 D10S16;D11S2560;D15S1477;D17S1239;D1S1423;D2S133;D2S2228;D8S2279;G16350;GDB:434012;L17709;L17971;SHGC-150747 AP-1 complex subunit sigma-3;OTTHUMP00000164217;OTTHUMP00000213995;OTTHUMP00000229293;adapter-related protein complex 1 sigma-1C subunit;adaptor protein complex AP-1 sigma-1C subunit;clathrin assembly protein complex 1 sigma-1C small chain;golgi adaptor HA1/AP1 adaptin sigma-1C subunit;sigma 1C adaptin;sigma 1C subunit of AP-1 clathrin;sigma-adaptin 1C;sigma1C-adaptin protein-coding 18971 16495 VALIDATED 1314769 AP2A1 adaptor-related protein complex 2, alpha 1 subunit This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008] 19 19 q13.33 54961992 55002181 + 50270180 50310369 + 1580863;6480464;6484113;6907045 12036598;16103193;2014052;10567358;11157096;18524831;18178234;15862967;15489334;15231748;15057824;14702039;14517991;12942088;12775724;12595566;12477932;12429846;12364336;11723124;11598180;11532990;11517213;11423532;11331585;17620599;21880590;9259551;11302736;11230166;11170396;10966473;10551776;10436022;10336464;9723620;9280305;9049247;8662627;8617812;7791877;7593184;2564002;17108326;9882340;16139856;15020715;12646615;16055064;16169070;16696976;9651214;16497223;19116314;16055720;10764745;10953014;12057195;22939629;22360420;18781797;20360068;21139048;21890473;21906983;11447109;17581864;18032517;19129443;19380743;19802344;20012524;20594957;21762802;22952844 160 M0R2D9;O95782 ABBA01032909;AC006942;AC011495;AC098783;AF289221;AK094317;AK124343;AK302005;AL136925;AMYH01009918;BC014214;CH471177;NM_014203;NM_130787 AAD15564;AAH14214;AAL11039;AAL11040;ABM83179;ABM86380;BAC04329;BAG63408;CAB66859;EAW52535;EAW52536;EAW52537;NP_055018;NP_570603;O95782 Hs.467125 1687868;1697464;1728923;2109043;2126116;2191055;2191447 AP2A1__4334;Ap2a1;MARC_13831-13832:1006881711:1;MARC_23449-23450:1027106382:1;RH102233;RH75669;STS-AA031950 ADTAA;AP2-ALPHA;CLAPA1 100 kDa coated vesicle protein A;AP-2 complex subunit alpha-1;adapter-related protein complex 2 alpha-1 subunit;adaptin, alpha A;adaptor protein complex AP-2 subunit alpha-1;alpha-adaptin A;alpha1-adaptin;clathrin assembly protein complex 2 alpha-A large chain;clathrin-associated/assembly/adaptor protein, large, alpha 1;plasma membrane adaptor HA2/AP2 adaptin alpha A subunit APPROVED protein-coding ENSG00000196961 561 03016 601026 REVIEWED 735567 AP2A2 adaptor-related protein complex 2, alpha 2 subunit 11 11 p15.5 915841 1002240 + 925809 1012245 + 1580863;6480464;6907045 16103193;2014052;10567358;11157096;19359243;19129443;15489334;15231748;14702039;14530274;12477932;12168954;12086608;12057195;12036598;11707398;11470803;10966473;10748223;10477754;10430869;10048485;9723620;9700202;9195986;9049247;8662627;8617812;8552632;8125298;2564002;17108326;9882340;16139856;15020715;9280305;10809762;11247302;10608806;10910768;16055064;17203073;8889548;23383273;20811636;21832049;22939629;17620599;9182529;22360420;20965945;21139048;21890473;21906983;17052248;18362181;17210199;18032517;19380743;19802344;20012524;20594957;21762802;22103831;22952844;17581864 161 E9PNC4;E9PPY8;E9PPZ3;E9PQP4;E9PR62;E9PS94;H0YDE9;H0YEG0;O94973 AB020706;AB209422;ABBA01015215;ABBA01015216;ABBA01015217;ABBA01015218;AF049527;AK001986;AK027640;AK027891;AK075497;AK094496;AK095725;AK223558;AK293763;AK299364;AL117614;AMYH01003297;AP006477;AP006623;BC006155;BG705558;BI462785;BU735076;CH471158;DB461570;NM_001242837;NM_012305 AAC27505;AAH06155;ABM84367;ABM87778;BAA74922;BAB55435;BAC11653;BAD92659;BAD97278;BAG50999;BAH11590;BAH13015;CAB56015;EAX02416;EAX02417;EAX02418;EAX02419;NP_001229766;NP_036437;O94973 Hs.19121 1648133;1671317;1709554;2161069;5014051;5022200;5022651;5024039;5037552 D11S2921;D16S325;D8S2278;D8S2279;G09846;L18426;RH48949;SHGC-81865;STS-W67158 ADTAB;CLAPA2;FLJ37177;HIP-9;HIP9;HYPJ 100 kDa coated vesicle protein C;AP-2 complex subunit alpha-2;HIP-9;OTTHUMP00000230509;OTTHUMP00000230600;OTTHUMP00000230602;adapter-related protein complex 2 alpha-2 subunit;adaptin, alpha B;adaptor protein complex AP-2 subunit alpha-2;adaptor protein complex ap-2, alpha 2 subunit;alpha-adaptin C;alpha-adaptin C; Huntingtin interacting protein J;alpha2-adaptin;clathrin assembly protein complex 2 alpha-C large chain;clathrin-associated/assembly/adaptor protein, large, alpha 2;huntingtin yeast partner J;huntingtin-interacting protein 9;huntingtin-interacting protein J;plasma membrane adaptor HA2/AP2 adaptin alpha C subunit protein-coding ENSG00000183020 562 06256 607242 VALIDATED 734047 AP2B1 adaptor-related protein complex 2, beta 1 subunit The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q11.2-q12 30938395 31077549 + 33914282 34053436 + 6480464;6907045 12221107;16103193;2014052;16903783;16581796;16189514;15761153;15592455;15489334;14530274;12900408;12732633;12477932;12429846;12429842;12419313;12086608;11777907;11170396;10966473;10944104;9707615;8595912;8262066;1969413;17108326;9882340;16139856;15020715;11285224;11463741;9811611;9384576;17353931;20936779;10097102;10567358;11157096;12070169;15533940;15897975;16055064;17290217;18843039;19469909;19509056;19615732;19903820;9651214;22863883;21118812;10748223;17620599;22586326;22360420;21252943;22558309;18781797;20360068;20965945;21139048;21890473;21906983;18654987;17052248;21628590;21145461;17210199;17267500;19149577;19380743;19802344;20012524;20594957;21762802;22103831;22632162;9341158;22139419 163 K7EJ01;K7EJT8;K7EJX1;K7EKZ5;K7EMN7;K7EN71;K7ERB2;K7ERE4;P63010;Q7Z451;Q96EL6 ABBA01011230;ABBA01011231;ABBA01011232;ABBA01011233;ABBA01011234;AC004134;AC006237;AC015911;AI691147;AK289528;AK292531;AK295667;AK301522;AK304126;AMYH01008354;AY341427;BC006201;BC012150;BQ421703;BX643620;CH471147;CR749392;M34175;NM_001030006;NM_001282 AAA35583;AAH06201;AAH12150;AAQ20044;ABM84208;ABM87612;BAF82217;BAF85220;BAG58527;BAG63026;BAG65023;CAH18240;EAW80133;EAW80134;EAW80135;EAW80136;EAW80137;EAW80138;EAW80139;EAW80140;EAW80141;EAW80142;NP_001025177;NP_001273;P63010 Hs.514819 1654301;1657567;1674652;1721585;1729233;2118925;2128032;2129493;2144472;2170233;2180156;2186017;2190777;2191675;5127569;5491942 AP2B1-1;CLAPB1;D17S1669;D17S1690;D17S2061;G59802;G62209;IB756;MARC_4629-4630:966894533:1;RH12574;RH47464;SGC44707;SHGC-52481;SHGC-57242;STS-W92018;WI-18136 ADTB2;AP105B;AP2-BETA;CLAPB1;DKFZp781K0743 AP-2 complex subunit beta;adapter-related protein complex 2 beta subunit;adaptin, beta 2 (beta);adaptor protein complex AP-2 subunit beta;beta-2-adaptin;beta-adaptin;clathrin assembly protein complex 2 beta large chain;clathrin-associated/assembly/adaptor protein, large, beta 1;plasma membrane adaptor HA2/AP2 adaptin beta subunit APPROVED protein-coding ENSG00000006125 563 03015 601025 REVIEWED 1350921 AP2M1 adaptor-related protein complex 2, mu 1 subunit This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 q28 185375328 185384573 + 183892634 183901879 + 6480464;6484113;6907045 12032142;7989329;8595912;11285224;16103193;2014052;17108328;19419997;18523139;18032517;17290396;17289840;16880396;16723738;16501101;16498080;16263766;16189514;15916959;15911768;15778375;15489334;15182197;12952941;12646615;12644451;12621057;12477932;12421765;12086608;12010461;11742978;11591131;11583591;11247302;10910768;10887964;10593987;9812899;9571248;9256472;9200449;9013859;8491205;8257432;7788527;7569928;17108326;11222723;9882340;9400603;16139856;15020715;16116206;15611114;17666399;18474601;7593184;11454741;15647482;22916011;20029029;20485680;10567358;11157096;15254094;16055064;16902404;17220478;19578796;19903820;21145461;11031247;9651214;10814565;20965945;18056411;20186120;15604093;20360068;21078624;21139048;21890473;21906983;21987572;22472876;12057195;16713569;17984062;20639872;21182205;17210199;17267500;18187620;18524831;18596106;19380743;19478868;19895210;20012524;21762802;22004035;22103831;22363329;22797925 1173 C9JGT8;C9JJ47;C9JJD3;C9JPV8;C9JTK4;E9PFW3;H7C4C3;Q96CW1 ABBA01058455;AC131235;AK057883;AK294159;AK295999;AK297578;AK297849;AK300228;AK304510;AK310409;AMYH01013711;BC004996;BC013796;BC014030;BI461415;BT007308;CH471052;D63475;FB336127;HH767466;NM_001025205;NM_004068;U36188 AAA93254;AAH04996;AAH13796;AAH14030;AAP35972;ABM83802;ABM86841;BAA09762;BAG57482;BAG58773;BAG60181;BAG61996;BAG65316;BAH12618;CAR81017;CBX84495;EAW78290;EAW78291;EAW78292;NP_001020376;NP_004059;Q96CW1 Hs.518460 1670513;1673534;1676212;1735168;1775349;1776302;1858134;2107837;2115021;2116456;2191019 AP2M1_8258;D3S2818E;IB1255;IB397;MARC_13450-13451:1002298269:1;RH92621;SHGC-7485;SHGC-77602;SHGC-77604;STS-R80399;UTR-04950 AP50;CLAPM1;mu2 AP-2 complex subunit mu;AP-2 mu 2 chain;AP-2 mu chain;HA2 50 kDA subunit;OTTHUMP00000210694;OTTHUMP00000210695;OTTHUMP00000210696;OTTHUMP00000210697;OTTHUMP00000210701;adapter-related protein complex 2 mu subunit;adaptin-mu2;adaptor protein complex AP-2 subunit mu;clathrin adaptor complex AP2, mu subunit;clathrin assembly protein complex 2 medium chain;clathrin coat adaptor protein AP50;clathrin coat assembly protein AP50;clathrin coat-associated protein AP50;clathrin-associated/assembly/adaptor protein, medium 1;plasma membrane adaptor AP-2 50 kDa protein;plasma membrane adaptor AP-2 50kDA protein APPROVED protein-coding ENSG00000161203 564 03014 601024 REVIEWED 1319021 AP3B2 adaptor-related protein complex 3, beta 2 subunit Adaptor protein-3 (AP3) is a heterotetrameric vesicle-coat protein complex. Some AP3 subunits are ubiquitously expressed, whereas others are expressed exclusively in neurons. The neuron-specific AP3 complex, which includes AP3B2, is thought to serve neuron-specific functions such as neurotransmitter release (Grabner et al., 2006 [PubMed 16788073]).[supplied by OMIM, Mar 2008] 15 15 15 q 61202181 61252080 + 81125088 81175689 - 83328033 83378635 - 1580863;6480464 7671305;17453999;16788073;15489334;14702039;12565890;12477932;10930456;9707615;9545220;9118953;1851215;11877451;19481122;20531441;18029348;17620599;18076669;20467438;23118302 8120 B7ZKR7;B7ZKS0;F5GWU4;F5GYB0;H0YH30;Q13367 ABBA01029418;ABBA01029419;ABBA01029420;ABBA01029421;ABBA01029422;ABBA01029423;AC105339;AF022152;AK097827;AK294331;AMYH01006854;AMYH01006855;AMYH01006856;BC008350;BC026700;BC035640;BC093739;BC143342;BC143346;BI914720;BQ777385;CH471188;CR749860;DQ092369;FJ695193;NM_001278511;NM_001278512;NM_004644;U37673 AAB71894;AAC50219;AAH93739;AAI43343;AAI43347;AAZ38147;BAG53536;BAG57603;CAH18704;EAW62447;NP_001265440;NP_001265441;NP_004635;Q13367 Hs.199593 1768258;1846633;2139561 RH66690;WI-21100;WI-22674 DKFZp686D17136;NAPTB AP-3 complex subunit beta-2;Neuronal adaptin-like protein, beta-subunit;OTTHUMP00000237554;OTTHUMP00000237555;OTTHUMP00000237556;adapter-related protein complex 3 subunit beta-2;adaptor protein complex AP-3 subunit beta-2;beta-3B-adaptin;clathrin assembly protein complex 3 beta-2 large chain;neuron-specific vesicle coat protein beta-NAP APPROVED protein-coding ENSG00000103723 567 03699 602166 VALIDATED 732482 AP2S1 adaptor-related protein complex 2, sigma 1 subunit One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing has been observed in this gene and results in two known transcripts. [provided by RefSeq, Jul 2008] 19 19 q13.2-q13.3 52033263 52046043 - 47341423 47354203 - 1580863;737778;6480464;6907045;7240710 9466969 10753805;9040778;16103193;2014052;15489334;12477932;12086608;9767099;7593184;2495531;2040623;17108326;9882340;16139856;15020715;17353931;10567358;11157096;16055064;19738201;21963094;21988832;22623428;23000965;21139048;21890473;21906983;21987572;17210199;19380743;20012524;21762802;22505724;23222959 1175 M0QYZ2;M0QZ21;M0R0N4;M0R1S0;P53680 ABBA01040989;ABBA01040990;AC008622;AC098794;AJ010148;AJ010149;AK312003;AMYH01009872;BC006337;BF970609;BQ684675;BU564736;CH471126;H46780;NG_033136;NM_004069;NM_021575;X97074 AAH06337;ADZ15785;BAG34941;CAA09018;CAA09019;CAA65782;EAW57448;EAW57449;NP_004060;NP_067586;P53680 Hs.119591 1653053;1685874;1725569;1847336 G62010;RH47043;RH80522;STS-X97074 AP17;AP17-DELTA;CLAPS2;HHC3 AP-2 complex subunit sigma;HA2 17 kDa subunit;adapter-related protein complex 2 sigma subunit;adaptor protein complex AP-2 subunit sigma;clathrin assembly protein 2 small chain;clathrin coat assembly protein AP17;clathrin coat-associated protein AP17;clathrin-associated/assembly/adaptor protein, small 2 (17kD);plasma membrane adaptor AP-2 17 kDa protein;sigma2-adaptin APPROVED protein-coding ENSG00000042753 565 03762 600740;602242 REVIEWED 1321051 AP3B1 adaptor-related protein complex 3, beta 1 subunit This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012] 5 5 q14.1 77333906 77626284 - 77298150 77590528 - 1580863;1578409;6480464;7240710 12125811 17353931;17622474;9931340;9151686;19481122;19320733;19023099;18410487;18000860;17975119;17569884;17081983;16551969;16537806;16112646;15489334;12477932;12062430;11877451;11809908;10024875;9182526;8413179;8125298;11926829;14657250;12419313;19246570;19679886;19934039;20379614;9545220;19841138;19913121;20628086;22939629;22863883;21139048;21890473;21906983;23000965;18781797;21901158;20301464;16344560;18076669;20133826;22875976;22952844 8546 E5RJ68;H0YBD0;O00203 ABBA01061990;ABBA01061991;ABBA01061992;ABBA01061993;ABBA01061994;AC024568;AC024578;AC104108;AC112197;AF247736;AK225908;AK291201;AK303300;AL708147;AMYH01015429;AMYH01015430;AMYH01015431;AY623424;BC020230;BC038444;BX538041;CH471084;DA889915;NG_007268;NM_001271769;NM_003664;U81504;U91931 AAB61638;AAD03778;AAG01739;AAH38444;AAT49048;ABM85841;ABW03740;BAF83890;BAG64374;CAD97982;EAW95811;EAW95812;EAW95813;NP_001258698;NP_003655;O00203 Hs.532091 1646877;1654848;1705370;1709526;1728085;1785706;2109045;2146083;5122050 1842;A002S29;AP3B1_8826;G63314;L31442;RH16414;SHGC-79370;SHGC-81837;SHGC-83541 ADTB3;ADTB3A;HPS;HPS2;PE AP-3 complex beta-3A subunit;AP-3 complex subunit beta-1;OTTHUMP00000133884;OTTHUMP00000222448;adapter-related protein complex 3 subunit beta-1;adaptor protein complex AP-3 subunit beta-1;beta-3A-adaptin;beta3A-adaptin;clathrin assembly protein complex 3 beta-1 large chain APPROVED protein-coding ENSG00000132842 566 04551 603401;608233 REVIEWED 6767156 AP4B1-AS1 AP4B1 antisense RNA 1 1 p13.2 114399257 114443859 + 14702039 100287722 ABBA01068458;AK123199;AL137856;AMYH01000964;NR_037864 Hs.664669 1645401;1685399;5022322;5037552 D11S2560;D8S2279;RH98904;SHGC-75343 APPROVED miscrna ENSG00000226167 44114 VALIDATED 735940 AP3M2 adaptor-related protein complex 3, mu 2 subunit This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008] 8 8 8 p11.2 40959278 40977658 + 42129761 42147858 + 42010464 42028701 + 1580863;6480464 17293072;15489334;12477932;8076832;7601449;1602151;9400603;19481122;18076669;20012524;22952844 10947 E5RGF3;E5RI83;E5RJ52;E7ER80;H0YAY4;H0YBA0;H0YBM0;P53677;Q7Z472 AA854640;ABBA01021151;AC103724;AK315228;AMYH01018678;BC021966;BC056257;BC056398;BI461390;BX648354;BX648390;CH471080;D38293;FB336135;HH767474;NM_001134296;NM_006803 AAH56257;AAH56398;ACE86863;ACE87551;BAA07415;BAG37657;CAR81021;CBX84499;EAW63236;EAW63237;EAW63238;NP_001127768;NP_006794;P53677 Hs.654529 1645500;2130069;2138880 A004G41;SGC30244;SHGC-31558 AP47B;CLA20;P47B AP-3 complex subunit mu-2;HA1 47 kDa subunit homolog 2;HA1 47kDA subunit homolog 2;OTTHUMP00000225723;OTTHUMP00000225725;OTTHUMP00000225726;OTTHUMP00000229134;adapter-related protein complex 3 mu-2 subunit;clathrin assembly protein assembly protein complex 1 medium chain homolog 2;clathrin coat assembly protein AP47 homolog 2;clathrin coat-associated protein AP47 homolog 2;clathrin-associated protein AP47 homolog 2;golgi adaptor AP-1 47 kDA protein homolog 2;mu3B-adaptin APPROVED protein-coding ENSG00000070718 570 09801 610469 REVIEWED 1318559 AP3D1 adaptor-related protein complex 3, delta 1 subunit The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 19 19 p13.3 2051993 2102556 - 2100987 2151556 - 1580863;6480464 9182526;9303295;9151686;19481122;18034776;17081983;16457822;16162817;15766529;15489334;15469849;15057824;14702039;14657250;12967569;12853575;12477932;11926829;11331585;10559961;9697856;9482728;15681409;12486136;10814565;17349999;18775314;19851296;20198315;20379614;22863883;22939629;8889548;21139048;21890473;17620599;19805454;21963094;17210199;18076669;20012524;20594957;21841072;22004035;22103831;22363329;22705971;22833563;22875976;22952844 8943 E7EMM2;G5E988;K7ELX8;K7ERW8;O14617 AB208804;ABBA01002710;AC005257;AC005328;AC005545;AF002163;AF130042;AK094460;AK128692;AK310099;AK315899;AMYH01009274;AY954498;BC005142;BC010065;BC022837;BM982261;BQ227203;CH471139;NM_001261826;NM_003938;U91930 AAC25623;AAC27670;AAC34212;AAC34214;AAC51761;AAD03777;AAG35473;AAH05142;AAH10065;ADZ15549;BAD92041;BAF98790;BAG52868;EAW69412;EAW69416;NP_001248755;NP_003929;O14617 Hs.512815 1676744;1683805;1789358;2131775;2186790;2186792 A002D02;G19943;G67894;RH93528;SHGC-23975;WI-19632 ADTD;hBLVR AP-3 complex delta subunit, partial CDS;AP-3 complex subunit delta;AP-3 complex subunit delta-1;adapter-related protein complex 3 subunit delta-1;adaptin, delta;delta adaptin;delta-adaptin, partial CDS;subunit of putative vesicle coat adaptor complex AP-3 APPROVED protein-coding ENSG00000065000 568 06260 607246 VALIDATED 1350010 AP3S2 adaptor-related protein complex 3, sigma 2 subunit 15 15 q26.1 88177792 88238206 - 90373831 90437617 - 1580863;6480464 9118953;16344560;15489334;15469849;14702039;12967569;12477932;12019270;11907283;9182526;8125298;11926829;20966410;21987572;21139048;21906983;21874001;18076669;20012524;22505724 10239 B4DGQ3;H0YKM3;H0YLI7;H0YLX6;H0YNI6;P59780 ABBA01053027;ABBA01053028;ABBA01053029;AC018988;AC027176;AK222698;AK294712;AK312467;AL109702;AL110108;AMYH01006918;AMYH01006919;AW402906;BC002785;BC007773;BC010020;BC010615;BX098014;CH471101;DA268327;DA337392;DA464242;DA752479;DA777624;DB322370;DC340463;DC410373;DR158459;NM_005829;NR_023361;NR_037582;X99459 AAH02785;AAH07773;AAH10020;ABM83908;ABM87229;BAD96418;BAG35374;BAG57864;CAA67824;EAX02071;EAX02072;EAX02073;EAX02074;EAX02075;NP_005820;P59780 Hs.632161 1336932;1767579;2112970;2161595;2165051;2183352;5016851;5022200;5022578;5022651;5037552 D11S2921;D15S1443E;D15S526;D1S1423;D8S2279;G17841;L18426;RH11326;RH80031;WI-15468;WI-20835 AP3S3;FLJ35955;sigma3b AP-3 complex sigma-3B subunit;AP-3 complex subunit sigma-2;AP-3 complex subunit sigma-3B;OTTHUMP00000194687;adapter-related protein complex 3 sigma-2 subunit;adaptor complex sigma3B;clathrin-associated/assembly/adaptor protein, small 4, 22-kD;sigma-3B-adaptin;sigma-adaptin 3b;sigma3B-adaptin protein-coding ENSG00000157823 571 03880 602416 VALIDATED 734238 AP3M1 adaptor-related protein complex 3, mu 1 subunit The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane and may be directly involved in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] 10 10 q22.2 75550021 75580832 - 75880015 75910826 - 1580863;6480464 10024875;15489334;15342556;14702039;12477932;11827452;11742978;11071902;10737800;9794796;9714600;9482728;8889548;15681409;11463741;10814565;12853575;16385451;19481122;19615732;15254094;9182526;19116314;22863883;21139048;21890473;21963094;23000965;23404500;18076669;20012524;20594957;22103831;22797925;22875976;22952844;22833563 26985 Q8NDP0;Q9Y2T2 ABBA01020295;AC012046;AC022026;AC022540;AC091699;AF092092;AI610802;AK001565;AK026983;AK299352;AK315597;AL133610;AL357037;AL731576;AL833820;AMYH01002834;AV722897;AW069033;BC026232;BC067127;BE706537;BM463185;BP230128;BU172918;BU430175;BU679701;CH471083;FB336129;HH767468;NM_012095;NM_207012 AAD20446;AAH26232;AAH67127;ABM84038;ABM87385;ABW03569;BAB15614;BAG61348;CAD38682;CAR81018;CBX84496;EAW54552;EAW54553;EAW54554;NP_036227;NP_996895;Q9Y2T2 Hs.500104 2166027;2173597;5015961;5037552 D10S2342;D15S1477;D8S2279;WI-11846 MGC22164 AP-3 adapter complex mu3A subunit;AP-3 complex subunit mu-1;OTTHUMP00000019859;OTTHUMP00000019860;adapter-related protein complex 3 mu-1 subunit;adaptor-related protein complex ap-3, mu 1 subunit;clathrin adaptor complex AP3, mu-3A subunit;mu-adaptin 3A;mu3A-adaptin APPROVED protein-coding 569 16496 610366 REVIEWED 1322400 AP3S1 adaptor-related protein complex 3, sigma 1 subunit 5 5 5 q22 111126032 111198189 + 115205518 115277677 + 115177619 115249778 + 1580863;6480464 9118953;9792713;8697810;15489334;15469849;14702039;14657250;12967569;12477932;12370188;9151686;16162817;20379614;20512086;21139048;21890473;21906983;22939629;22863883;22990118;19322201;18076669;22505724;22875976 1176 F5H459;Q92572 ABBA01069029;AC010282;AC026449;AK124911;AK126876;AK311843;AMYH01015563;BC000804;BC012614;BI600357;BT009833;BX647735;CH471086;CR450341;D63643;NM_001284;U91932;X99458 AAD03779;AAH00804;AAP88835;ABM82124;ABM85307;BAA09798;BAG34785;CAA67823;CAG29337;EAW48952;EAW48953;NP_001275;Q92572 Hs.740519 1719661;1780868;1780910;1792860;5106465 PMC166143P2;RH123522;WI-11812;bac53103T;bac53227T CLAPS3;Sigma3A AP-3 complex sigma-3A subunit;AP-3 complex subunit sigma-1;AP-3 complex subunit sigma-3A;OTTHUMP00000159125;OTTHUMP00000236881;adapter-related protein complex 3 sigma-1 subunit;clathrin-associated/assembly/adapter protein, small 3;clathrin-associated/assembly/adaptor protein, small 3 (22kD);sigma-3A-adaptin;sigma-adaptin 3a;sigma3A-adaptin protein-coding 2013 03298 601507 VALIDATED 1321485 AP4B1 adaptor-related protein complex 4, beta 1 subunit This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 1 1 1 p13.2 112666893 112676965 - 114239201 114249215 - 114437370 114447741 - 1580863;6480464 17353931;10066790;16710414;15489334;14702039;12477932;12419313;11409905;10436028;22290197;21139048;21906983;21963094;23251661;22797925 10717 B1ALD0;B1ALD1;B1ALD2;B1ALD3;B4DTG3;B7Z4X3;Q9Y6B7 AB209817;ABBA01068458;AF092094;AK001045;AK057567;AK093740;AK298037;AK300204;AK314641;AL137856;AMYH01000964;AW072594;BC014146;BG718098;CH471122;DC299853;DC367373;DC390197;NG_031901;NM_001253852;NM_001253853;NM_006594 AAD20448;AAH14146;ADZ15510;BAD93054;BAG37203;BAG52756;BAG61975;BAH12709;EAW56578;EAW56579;EAW56580;EAW56581;NP_001240781;NP_001240782;NP_006585;Q9Y6B7 Hs.515048 1645401;2218996;5037552 AP4B1__4336;D8S2279;SHGC-75343 BETA-4;CPSQ5;SPG47 AP-4 adapter complex subunit beta;AP-4 complex subunit beta-1;OTTHUMP00000013725;OTTHUMP00000013726;OTTHUMP00000013730;adapter-related protein complex 4 subunit beta-1;beta 4 subunit of AP-4;beta subunit of AP-4;beta4-adaptin;spastic paraplegia 47 APPROVED protein-coding ENSG00000134262 572 06259 607245;614066 REVIEWED 1343936 AP4E1 adaptor-related protein complex 4, epsilon 1 subunit This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 15 15 15 q21.2 28093991 28191516 + 48988238 49085389 + 51200869 51298097 + 1580863;6480464 10436028;15489334;12477932;11707398;11409905;10066790;20972249;21620353;19322201 23431 B4DM48;H0YK94;H0YK95;H0YL95;Q9UPM8 AB030653;ABBA01039089;ABBA01039090;ABBA01039091;ABBA01039092;AC021752;AC022407;AC073964;AF155156;AI143020;AK297290;AK308644;AL355694;AMYH01006641;BC015224;BC040044;BC040045;BC126308;BC130466;BC144025;BC144030;CH471082;CR627314;CR749604;NG_031875;NM_001252127;NM_007347 AAD43326;AAI26309;AAI30467;ADR83286;BAA82969;BAG59760;CAH18399;EAW77411;NP_001239056;NP_031373;Q9UPM8 Hs.413366 1656274;1687964;1755951;2106425;2118711;5015961 AP4E1__4337;D15S1477;G41300;RH93797;SHGC-142770;STS-AA018409 CPSQ4;DKFZp686L12167;SPG51 AP-4 adapter complex subunit epsilon;AP-4 complex subunit epsilon-1;AP-4-EPSILON;adapter-related protein complex 4 subunit epsilon-1;adaptor-related protein complex AP-4 epsilon;epsilon subunit of AP-4;epsilon-adaptin APPROVED protein-coding ENSG00000081014 573 06258 607244;613744 REVIEWED 1348189 AP4S1 adaptor-related protein complex 4, sigma 1 subunit This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011] 14 14 14 q12 11360171 11428127 + 30564644 30624759 + 31494312 31565656 + 1580863;6480464 10436028;14702039;12477932;10066790;21832049;16196087;21620353;21139048;18624398 11154 G3V3X7;G3V4P7;G3V5J6;H0YJI3;J3KNK4;Q9Y587 AB030654;ABBA01061408;ABBA01061409;ABBA01061410;ABBA01061411;ABBA01061412;AF155159;AI570549;AK056928;AK098330;AK304115;AK316517;AL049830;AL121808;AMYH01005639;BC001259;BC035622;BF671561;BG702035;BT006701;BX247969;BX388185;CH471078;CR457100;NG_031913;NM_001128126;NM_001254726;NM_001254727;NM_001254728;NM_001254729;NM_007077;R46468 AAD43329;AAH01259;AAP35347;ABM81633;ABM84817;BAA82970;BAG65016;BAH14888;CAD62307;CAG33381;EAW65953;EAW65954;EAW65955;EAW65956;EAW65957;EAW65958;NP_001121598;NP_001241655;NP_001241656;NP_001241657;NP_001241658;NP_009008;Q9Y587 Hs.293411 1341096;1677798;1681496;1685754;1772573;1775174;1855191;2124438;2140044;2141448;2167588;2173517;2183929;5016478;5020946;5022651;5024413;5037552;5092638;5109281;5109362 D11S2921;D14S54;D14S911;D14S918;D17S1239;D1S1425;D8S2279;G32231;G35467;G35637;G35699;G35807;G35832;GDB:434012;L17877;L17971;RH66892;RH68330;RH69503;RH99157;SHGC-56780 AP47B;CLA20;CLAPS4;CPSQ6;FLJ32366;FLJ41011;SPG52 AP-4 adapter complex subunit sigma-1;AP-4 complex subunit sigma-1;OTTHUMP00000178784;OTTHUMP00000244083;OTTHUMP00000244084;OTTHUMP00000244086;OTTHUMP00000244087;OTTHUMP00000244088;adapter-related protein complex 4 subunit sigma-1;clathrin-associated/assembly/adaptor protein, sigma 4;sigma-1 subunit of AP-4;sigma-4-adaptin;sigma4-adaptin APPROVED protein-coding ENSG00000100478 575 06257 607243;614067 REVIEWED 1321015 AP4M1 adaptor-related protein complex 4, mu 1 subunit This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 94433789 94439462 + 99537066 99542739 + 99699130 99704803 + 1580863;6480464;7240710 10066790;19559397;18341993;14702039;12690205;12477932;11802162;11707398;11139587;10436028;9794796;9013859;14572453;15254094;17207965;21906983;21620353 9179 C9IZL5;C9JC87;C9JMG3;C9JWL4;F8WCC5;F8WCR6;F8WDR3;H0Y6K1;H7BZV3;H7C0A0;O00189 AACC02000084;ABBA01013238;AC073842;AF020796;AF155158;AK055686;AK293590;AK296651;AK304489;AK315782;AMYH01017726;BC012023;BC018705;BX640759;CH236956;CH471091;DC413622;NG_016312;NM_004722;Y08387 AAD25869;AAD43328;AAH18705;ADQ32212;BAG57057;BAG59249;BAG65298;CAA69667;CAE45865;EAL23854;EAW76594;EAW76595;EAW76596;EAW76597;NP_004713;O00189 Hs.632317 1668168;1757283;2141173 RH68321;SHGC-144694;STS-F01487 CPSQ3;MU-4;MU-ARP2;SPG50 AP-4 complex subunit mu-1;OTTHUMP00000206506;OTTHUMP00000206588;OTTHUMP00000206591;OTTHUMP00000206630;OTTHUMP00000206943;OTTHUMP00000206944;adapter-related protein complex 4 mu-1 subunit;adaptor-related protein complex AP-4 mu4 subunit;mu subunit of AP-4;mu-adaptin-related protein 2;mu-adaptin-related protein-2;mu4;mu4-adaptin APPROVED protein-coding ENSG00000221838 574 03803 602296;612936 REVIEWED 1606994 AP5B1 adaptor-related protein complex 5, beta 1 subunit 11 11 11 q13.1 62868693 62872853 - 65299949 65304398 - 65541369 65548062 - 16189514;15146197;12477932;22022230;21987572;21139048;21890473;21906983 91056 Q2VPB7 ABBA01024102;AF193040;AL834269;AMYH01003725;AP001266;BC004895;BC017264;BC109109;BC109110;BC126905;BC128056;BM927404;CH471076;CN290077;JQ313135;NM_138368 AAG22468;AAH04895;AAI09110;AAI09111;AAI26906;AAI28057;AFA36464;CAD38944;EAW74437;EAW74438;NP_612377;Q2VPB7 Hs.591957 1769076;5020274;5020946;5037552 D8S2279;L17971;L18441;WI-17527 AP-5;DKFZp761E198;PP1030 AP-5 complex subunit beta;AP-5 complex subunit beta-1;adapter-related protein complex 5 beta subunit;adaptor protein 5;adaptor-related protein complex 5;beta-5;beta5;hypothetical protein LOC91056;uncharacterized DKFZp761E198;uncharacterized protein DKFZp761E198 APPROVED protein-coding 25104 13223 614367 VALIDATED 732461 APBA1 amyloid beta (A4) precursor protein-binding, family A, member 1 The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008] 9 9 q13-q21.1 71235022 71477042 - 72042449 72287275 - 1300048;704404;1580863;6480464 8887653;9822620;9753324;9614075;18836734;16413130;16344560;15699037;15563604;15164053;15024025;14970211;14960569;14756819;12970358;12849748;12514209;12196555;12177192;12093160;12016213;12006486;11115513;11083918;11036064;11010978;10455105;9952408;9585438;9395480;9321393;7719031;7678331;7545337;1968060;22355143;20531236;19720620;20016085;20379614;20468060;20160714;21763699;21178287 320 Q02410 ABBA01033809;ABBA01033810;ABBA01033811;AC208386;AF029106;AF047347;AL162412;AL162421;AL353693;AL355140;AL713639;AMYH01021385;AMYH01021386;AMYH01021387;AMYH01021388;AMYH01021389;AMYH01021390;BF435835;BQ269294;CH471089;DA179202;DA313538;L04953;NM_001163;Z32676 AAA61307;AAC05304;AAC39766;AAI56048;AAI57031;EAW62486;EAW62487;NP_001154;Q02410 Hs.171939;Hs.592974 1667539;1686806;1696038;1731136;1732093;1739881;1754957;1764697;1856744;2114046;2116962;2138398;2156496;2165193;2181622;2218228;7184762;7184858 AB047613;APBA1__4338;D9S1154;D9S1754;D9S2022;D9S327;D9S411E;G15857;RH17597;RH48024;RH93021;SHGC-141873;SHGC-148287;SHGC-83193;WI-16198;WI-17743 D9S411E;LIN10;MINT1;X11;X11A;X11ALPHA OTTHUMP00000021438;adapter protein X11alpha;adaptor protein X11alpha;amyloid beta (A4) precursor protein-binding, family A, member 1 (X11);amyloid beta A4 precursor protein-binding family A member 1;mint-1;neuron-specific X11 protein;neuronal munc18-1-interacting protein 1;phosphotyrosine-binding/-interacting domain (PTB)-bearing protein APPROVED protein-coding ENSG00000107282 578 03879 602414 REVIEWED 1345016 AP5S1 adaptor-related protein complex 5, sigma 1 subunit 20 20 20 p13 3863077 3867828 + 3749203 3753954 + 3801171 3805954 + 6480464 15489334;14702039;12477932;11780052;16344560;22022230 55317 A2A2L4;Q5JX74;Q9NUS5 ABBA01053834;AI338486;AK002030;AK093332;AL109804;AMYH01011679;BC011985;BC043344;CH471133;CS300639;DA129391;DA253969;DB190907;NM_001204446;NM_001204447;NM_018347 AAH43344;BAA92045;BAG52692;CAK32303;EAX10483;EAX10484;EAX10485;EAX10486;NP_001191375;NP_001191376;NP_060817;Q9NUS5 Hs.104806 1715103 RH119504 C20orf29;FLJ11168 AP-5 complex subunit sigma-1;OTTHUMP00000030129;OTTHUMP00000030130;OTTHUMP00000030131;OTTHUMP00000161028;adapter-related protein complex 5 sigma subunit;hypothetical protein LOC55317;protein C20orf29;sigma5 APPROVED protein-coding ENSG00000125843 15875 16649 614824 VALIDATED 733293 APAF1 apoptotic peptidase activating factor 1 This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 12 12 q23 97563209 97653342 + 99039078 99129211 + 1580863;704404;2313998;2325742;2325748;2325750;2325739;2325745;2292105;2325751;6480464;6907045 18931364;17640469;14973070;11753565;17224646;17029665;18205898;11567033 15009102;10383829;9267021;10949025;9753320;10441496;9390557;9922454;19238172;19141860;19074885;19058789;18834886;18676680;18587251;18719738;18439902;18373966;18093951;18042457;17885667;17882496;17876870;17603079;17541304;17534194;17361096;17348858;17133271;17081983;16951219;16595687;16420245;16331630;16232302;16231040;16098052;16046141;15972851;15863166;15832175;15832174;15703181;15692060;15649154;15590702;15378005;15305193;15262985;15033720;15026369;14993223;14747474;14566819;12963020;12804598;12637514;12615903;12168954;12149244;12147322;12021264;11864614;11550094;11457460;11389439;11230124;11113115;10934467;10764728;10722681;10702682;10578182;10543941;10486928;10393175;10376594;10364241;10322433;10206961;9878060;9837928;9829980;9651578;9539746;9488720;9455477;15103018;15829969;20977544;12477932;15735003;16979168;17274640;17418785;19170196;19455599;19603830;19625176;19675677;19692168;19801675;19809088;20379614;20453000;20345447;18029348;20959405;19913121;20628086;23085065;21104989;19662370;21528061;21297999;21659556;21922274;22246185;12549820;15001356;22632162;18309324;23521171;21139048;21890473;21906983;22143029;19322201;22101335;11242052;19698783;23207240;22996741;22335196 317 C9JLV4;F8VNZ0;Q9UJ65 AB007873;AB070829;AB103079;ABBA01053281;ABBA01053282;AC011248;AC013283;AF013263;AF134397;AF149794;AF248734;AJ133643;AJ133644;AJ133645;AJ243003;AJ243004;AJ243005;AJ243006;AJ243007;AJ243008;AJ243009;AJ243010;AJ243011;AJ243048;AJ243107;AK307509;AMYH01004692;AMYH01004693;BC136531;BC136532;BC150255;CH471054;EF560718;NG_029094;NM_001160;NM_013229;NM_181861;NM_181868;NM_181869 AAC51678;AAD34016;AAD38344;AAI36532;AAI36533;AAI50256;AAK28401;ABQ59028;BAA24843;BAC77343;CAB55579;CAB55580;CAB55581;CAB55582;CAB55583;CAB55584;CAB55585;CAB55586;CAB55587;CAB55588;CAB56462;CAB65085;CAB65086;CAB65087;EAW97603;EAW97604;EAW97605;EAW97606;EAW97607;EAW97608;EAW97609;EAW97610;EAW97611;NP_001151;NP_037361;NP_863651;NP_863658;NP_863659;O14727 Hs.552567 1704172;1704188;1704192;1774124;1794152;2106951;2151720;5014467;5016478;5020885;5022651;5037552;5093142 A009H22;APAF1_7746;D11S2921;D8S2279;G32545;GDB:313557;GDB:434012;L17791;PMC310794P40;RH69665;SHGC-79800;SHGC-79820;SHGC-79823 APAF-1;CED4;DKFZp781B1145 OTTHUMP00000243255;OTTHUMP00000243256;OTTHUMP00000243258;OTTHUMP00000243259;OTTHUMP00000243260;OTTHUMP00000243261;apoptotic protease activating factor 1;apoptotic protease-activating factor 1 APPROVED protein-coding ENSG00000120868 576 03755 602233 REVIEWED 1317656 AP5M1 adaptor-related protein complex 5, mu 1 subunit 14 14 14 q22.3 37785692 37806883 + 56805380 56826545 + 57735606 57756797 + 6480464 18395520;16344560;15489334;15146197;14702039;12477932;11230166;8125298;23665015 55745 E7EQ45;G3V3L4;G3V573;H0YIY0;Q9H0R1 ABBA01018237;ABBA01018238;AF094583;AK001675;AK172824;AK225345;AK303999;AL136685;AL139195;AL355834;AMYH01005752;BC013174;BQ000414;CH471061;CN352262;DB204683;NM_018229;NR_026895 AAC78130;AAH13174;BAA91828;BAD18791;BAG64916;CAB66620;EAW80700;EAW80701;EAW80702;EAW80703;NP_060699;Q9H0R1 Hs.597349 1686366;2141222 RH11331;RH44205 C14orf108;FLJ10813;MUDENG;Mu5;MuD AP-5 complex subunit mu;AP-5 complex subunit mu-1;MHD domain-containing death-inducing protein;MU-2/AP1M2 domain containing, death-inducing;Mu-2 related death-inducing;OTTHUMP00000179018;OTTHUMP00000245791;adapter-related protein complex 5 mu subunit;mu-2-related death-inducing protein;putative HIV-1 infection-related protein APPROVED protein-coding ENSG00000053770 20192 12630 614368 VALIDATED 733396 APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2 The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 q11-q12 27001145 27197807 + 29213840 29410518 + 704404;1580863;6480464 10833507;9890987;19222704;19197363;17989066;15699037;15563604;15345747;14970211;12972431;12780348;12720574;12477932;11083918;11036064;10827173;10777610;10336668;9860131;9822620;9614075;9585438;9395480;9110174;8955346;8889548;8619474;7545337;12196555;15037614;17332754;19615732;19736351;19744962;20015385;20016085;20029827;20379614;22222501;21900206;22832960;23076970 321 H0YL28;H0YMS0;H0YNE8;H0YNG7;Q59G28;Q99767 AB014719;AB209281;ABBA01010382;ABBA01010383;ABBA01010384;AC024474;AC127522;AF029108;AF047348;AK124794;AK310413;AMYH01006499;BC007794;BC082986;BM665057;BX332225;CH471205;NM_001130414;NM_005503;U79255 AAB50203;AAC05306;AAC39767;AAH82986;BAA34734;BAC85951;BAD92518;EAW51516;NP_001123886;NP_005494;Q99767 Hs.618112;Hs.721380 1719847;1724853;1728315;1728925;1792666;1792668;1792670;1792672;1792674;1792676;1792678;1792680;1792682;1792684;1792686;1792688;1792690;2178280;5109281 Apba2;D1S1425;G63439;PMC156605P1;PMC156605P10;PMC156605P11;PMC156605P12;PMC156605P13;PMC156605P2;PMC156605P3;PMC156605P4;PMC156605P5;PMC156605P6;PMC156605P7;PMC156605P8;PMC156605P9;RH119189;RH123618;WI-14097 D15S1518E;HsT16821;LIN-10;MGC99508;MGC:14091;MINT2;X11-BETA;X11L OTTHUMP00000159568;X11-like protein;adapter protein X11beta;amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like);amyloid beta A4 precursor protein-binding family A member 2;mint-2;neuron-specific X11L protein;neuronal munc18-1-interacting protein 2;phosphotyrosine-binding/-interacting domain (PTB)-bearing protein APPROVED protein-coding ENSG00000034053 579 04090 602712 REVIEWED 1626268 AP5Z1 adaptor-related protein complex 5, zeta 1 subunit This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011] 7 7 7 p22.2 4774915 4791050 + 4781790 4797925 + 4815262 4834026 + 6480464;7240710 15489334;14702039;12853948;12690205;12477932;9455477;16189514;20613862;12107412;18029348;21903422;21987572;22022230;21963094;21139048;21906983;22505724 9907 O43299 AB007875;ABBA01039430;AC092610;AK092068;AMYH01016990;BC008841;BC014240;BC037399;BI766915;BQ228738;CD671081;CH236953;CH471144;NG_028111;NM_014855 AAH08841;AAH37399;BAA24845;EAL23965;EAW87294;EAW87295;EAW87296;EAW87297;EAW87298;EAW87299;NP_055670;O43299 Hs.558440 2127194 RH48634 KIAA0415;SPG48;zeta AP-5 complex subunit zeta-1;OTTHUMP00000200469;adapter-related protein complex 5 zeta subunit;hypothetical protein LOC9907;protein KIAA0415;zeta5 APPROVED protein-coding 22197 613647;613653 REVIEWED 737449 APBA3 amyloid beta (A4) precursor protein-binding, family A, member 3 The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008] 19 19 p13.3 3701771 3712673 - 3750771 3761673 - 1580863;6480464 10049767;18544638;17959829;15494376;15489334;15057824;14990567;12477932;11831025;11440799;10574372;9860131;8889548;12196555;20677014;19726677;20016085;21178287;21903422 9546 O96018;Q9UPY9 AB021638;AB023431;AB024411;AB209603;ABBA01002841;AC005954;AF029110;AMYH01009317;BC008338;BC086306;BG938716;BI910038;BM977984;BQ707748;CH471139;NM_004886 AAC17979;AAC72275;AAH86306;BAA74430;BAA83094;BAA83517;BAD92840;EAW69290;EAW69291;NP_004877;O96018 Hs.25527;Hs.465607 1652853;1676486;1698940;2109047;5014003;5015879;5020242 APBA3_8956;D11S2612;D17S1136;GDB:314949;RH103039;RH78751;RH79570 MGC:15815;X11L2;mint3 X11-like 2 protein;adapter protein X11gamma;amyloid beta (A4) precursor protein-binding, family A, member 3 (X11-like 2);amyloid beta A4 precursor protein-binding family A member 3;mint-3;neuron-specific X11L2 protein;neuronal munc18-1-interacting protein 3;phosphotyrosine-binding/-interacting domain (PTB)-bearing protein APPROVED protein-coding ENSG00000011132 580 05038 604262 REVIEWED 1349313 APBB1 amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012] 11 11 p15 6372931 6397220 - 6416355 6440644 - 1580863;2301212;2301208;6480464;6907045 9799084;12707777 18468999;8894693;19234442;12843239;18922798;18833287;18800165;18777128;18550529;18480379;17855370;17854420;17686488;17590240;17512906;17368826;16713569;16332686;16223726;15816856;15647266;15489334;15146195;15044485;15037614;14572442;14569203;12888553;12779321;12727304;12653567;12477932;12150997;12089154;11854179;11741599;11606623;11517249;11441186;11436125;11279131;11099823;11095528;11085987;11065130;11029529;10945997;10561691;10075692;9837937;9738440;9685356;20133016;9585438;9461550;9407065;9045663;8955346;8887653;10081969;8855266;11115513;20205790;21145461;16055720;17332754;19343227;19381069;20405578;20568118;20091743;19913121;20628086;16049941;21650223;15592452;21824145;21900206;21968187;21139048;21890473;14699153;15331662;18096514;22199353;22902274 322 B7Z1J6;B7Z2A2;B7Z3G1;B7Z4M9;E9PNW7;J3KPL8;O00213;Q7Z324 ABBA01028667;AC068733;AC084337;AF029233;AF029234;AF047835;AF394214;AK293452;AK293550;AK293554;AK293613;AK293643;AK293711;AK294495;AK295241;AK295425;AK295837;AK297542;AK297544;AK297550;AK308559;AK308782;AK309000;AK309434;AK309445;AK311091;AK311101;AK311141;AK311149;AK311413;AK311725;AK315965;AMYH01003366;BC010854;BG699532;BX538185;CH471064;DC303314;DC316489;DC319935;EF103274;L77864;NG_029615;NM_001164;NM_001257319;NM_001257320;NM_001257321;NM_001257322;NM_001257323;NM_001257324;NM_001257325;NM_001257326;NM_145689;NR_047512 AAB93631;AAC79942;AAH10854;AAL79526;ABL07489;ABM81923;ABM85101;BAH11511;BAH11531;BAH11532;BAH11546;BAH11554;BAH11576;BAH11788;BAH12016;BAH12063;BAH12197;BAH12610;BAH12612;BAH12615;BAH14336;CAD98057;EAW68722;EAW68723;EAW68724;EAW68725;NP_001155;NP_001244248;NP_001244249;NP_001244250;NP_001244251;NP_001244252;NP_001244253;NP_001244254;NP_001244255;NP_663722;O00213 Hs.372840 1728499;1742579;1850059;2152808 A002D29;G63687;GDB:197904;SMPD1 FE65;MGC:9072;RIR OTTHUMP00000229838;OTTHUMP00000229839;OTTHUMP00000230717;adaptor protein FE65a2;amyloid beta A4 precursor protein-binding family B member 1;amyloid beta A4 precursor protein-binding, family B, member 1;stat-like protein APPROVED protein-coding ENSG00000166313 581 04087 602709 REVIEWED 1312445 APBB1IP amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 10 10 10 p12.1 26439007 26568370 + 26767272 26896738 + 26727266 26856732 + 1580863;2300340;6480464 18363565 19098287;17373700;15642358;15489334;15469846;15164054;14530287;12477932;9407065;22566498;8631894;16005629;16385451;16581250;19041431;19952372;20379614;16055720;23045549;21454517;22946047;21890473;22228203 54518 Q7Z5R6;Q8IYL7;Q9NWJ6 AB085852;ABBA01034417;ABBA01034418;ABBA01034419;ABBA01034420;ABBA01034421;AK000812;AK303597;AK308916;AL160287;AL355798;AMYH01002200;AY152730;BC035636;BC054516;BM150270;BM556115;CH471072;NM_019043 AAH35636;AAH54516;AAN75525;BAA91384;BAC41256;BAG64612;EAW86095;EAW86096;EAW86097;EAW86098;EAW86099;NP_061916;Q7Z5R6 Hs.310421 1338804;1770611;1781910;2145615 D10S111;D10S1197;D10S1417;SHGC-106955 INAG1;PREL1;RARP1;RIAM APBB1-interacting protein 1;OTTHUMP00000019344;PREL-1;RARP-1;Rap1-GTP-interacting adaptor molecule;Rap1-interacting adaptor molecule;amyloid beta A4 precursor protein-binding family B member 1-interacting protein;proline rich EVH1 ligand 1;proline-rich EVH1 ligand 1;proline-rich protein 73;rap1-GTP-interacting adapter molecule;retinoic acid-responsive proline-rich protein 1 protein-coding ENSG00000077420 17379 16420 609036 VALIDATED 1342475 APBB2 amyloid beta (A4) precursor protein-binding, family B, member 2 The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 p13 40510996 40911245 - 40812044 41216635 - 1580863;6480464;7240710 8855266;18852029;17567906;16344560;16083851;15714520;15489334;14527950;12477932;12089154;9585438;8955346;15761153;19542221;20677014;21139048;21890473;20301340;16273093;23000965;23259602 323 B4DJ88;B4E2F2;D6RAE0;D6RAJ4;D6RB00;D6RB55;D6RD19;D6RDY3;D6RGD4;G5E9Y1;H0Y943;H0Y9U9;H0YA92;H0YAJ5;Q92870 ABBA01014258;ABBA01014259;ABBA01014260;ABBA01014261;AC093804;AC096712;AC108937;AC131953;AK024871;AK226179;AK289838;AK295974;AK299800;AK304247;AL080130;AL596608;AL600779;AMYH01014129;AMYH01014130;AMYH01014131;BC027946;BC088372;BM546260;BU184203;BX440903;CF552608;CH471069;CX782504;DA603009;DB236935;DC372060;DC377357;DC377693;DC400218;NG_013337;NM_001166050;NM_001166051;NM_001166052;NM_001166053;NM_001166054;NM_004307;NM_173075 AAH27946;AAH88372;ABM82479;ABM85666;BAF82527;BAG58750;BAG61676;BAG65114;EAW92975;EAW92976;EAW92977;NP_001159522;NP_001159523;NP_001159524;NP_001159525;NP_001159526;NP_004298;NP_775098;Q92870 Hs.479602 1336656;1339155;1645720;1646810;1648722;1650684;1651304;1654493;1660287;1665100;1668510;1696362;1697066;1705066;1712042;1719261;1728435;1735400;1753981;1755275;1764445;1766405;1774623;1775351;1850183;1851416;1853184;2110259;2119153;2134941;2140800;2143722;2150534;2151909;2160926;2162931;2165961;2173525;2174975;2175061;2178924;2183025;5015861;5491459;7185938 1862;APBB2_8203;D10S16;D4S1333;D4S174;D4S2536E;D4S2546E;D4S2573E;D4S2651;D4S2919;D4S303;D4S308;D4S3222;D4S3272;D4S999;G33670;G34298;G41963;G63652;MARC_13889-13890:1007561323:1;RH102013;RH118718;RH123352;SHGC-132009;SHGC-142169;SHGC-148037;SHGC-149747;SHGC-50280;SHGC-51476;SHGC-51743;SHGC-53076;SHGC-53092;SHGC-59600;SHGC-59621;SHGC-59693;SHGC-59844;SHGC-67216;SHGC-67240;SHGC-68079;SHGC-77808;SHGC-78054;STS-N27935;STS-R35307;WI-16758 DKFZp434E033;FE65L;FE65L1;MGC35575 Fe65-like 1;OTTHUMP00000218167;OTTHUMP00000218168;OTTHUMP00000218169;OTTHUMP00000218170;OTTHUMP00000218869;OTTHUMP00000218871;OTTHUMP00000218876;OTTHUMP00000218877;OTTHUMP00000218879;amyloid beta A4 precursor protein-binding family B member 2;protein Fe65-like 1 APPROVED protein-coding ENSG00000163697 582 04088 104300;602710 REVIEWED 733384 APBB3 amyloid beta (A4) precursor protein-binding, family B, member 3 The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q31 136014603 136020939 - 139918037 139924373 - 139937853 139944189 - 6480464 10081969;18029348;15489334;14702039;14527950;12477932;12153398;10329396;20205790;9407065;16169070 10307 D6RBA1;D6RJB2;E7EX91;F5H1N5;O95704;Q59EH2;Q96DX9;Q96Q18;Q9BYD4 AB018247;AB024745;AB049618;AB061224;AB079687;AB094990;AB209839;ABBA01026426;AC005214;AC011399;AF224708;AF224709;AF224710;AF224711;AK074885;AK075280;AK125244;AK304824;AK307170;AMYH01015659;BC013158;BC125187;BF448559;CH471062;CQ783896;NM_006051;NM_133172;NM_133173;NM_133174 AAF65172;AAF65173;AAF65174;AAF65175;AAH13158;AAI25188;BAA35188;BAA78674;BAB40806;BAB71767;BAC22578;BAC56948;BAD93076;BAG52024;BAG52101;BAG54172;BAG65572;CAF86913;EAW62041;EAW62042;EAW62043;EAW62044;EAW62045;EAW62046;EAW62047;EAW62048;EAW62049;EAW62050;NP_006042;NP_573418;NP_573419;NP_573420;O95704 Hs.529449 1740445;2107839;2149648;2153349 A007D18;APBB3_9088;D5S2251E;RH16024 FE65L2;MGC150555;MGC87674;SRA FE65-like protein 2;OTTHUMP00000159886;OTTHUMP00000159887;OTTHUMP00000159888;OTTHUMP00000223852;OTTHUMP00000223853;amyloid beta A4 precursor protein-binding family B member 3;amyloid precursor interacting protein;protein Fe65-like 2 APPROVED protein-coding ENSG00000113108 20708 04089 602711 REVIEWED 6892856 APCDD1L-AS1 APCDD1L antisense RNA 1 (head to head) 20 q13.32 57090435 57194948 + 14702039;20838585 149773 ABBA01005976;ABBA01005977;AI077602;AK054637;AK090612;AK091704;AL050327;AL118513;AMYH01012020;AMYH01012021;NR_034147 Hs.685214;Hs.729646 1784338 SHGC-101667 APPROVED miscrna ENSG00000231290 27152 VALIDATED 1317926 APC2 adenomatosis polyposis coli 2 19 19 19 p13.3 1384145 1407242 + 1401148 1424243 + 1450148 1473243 + 1580863;6480464;6907045 9823329;18157572;12477932;11691822;10644998;10021369;12956947;22513088;17267499;19913121;20628086;10330403;10922056;20237496;20826619;10646860;16510875;10074433;21396940 10297 B5MDS5;K7ELQ3;K7EN62;O95996 AB012162;AB022529;ABBA01002646;AC027307;AF110334;AF110335;AF110337;AF110338;AF128222;AJ012652;AJ131187;AL078616;AMYH01009250;AMYH01009251;BC020381;BC032573;CH471139;NM_005883 AAD28183;AAD29273;AAD29274;AAD29275;AAF01784;AAH32573;BAA34611;BAA75469;CAA10317;CAB61207;EAW69496;EAW69497;EAW69498;NP_005874;O95996 Hs.446376 1688400;1739943;2132089;2154576;2154638;5093566 A009Q48;D2S2123;G32795;RH36570;RH39051;WI-14332 APCL APC-like;adenomatous polyposis coli like;adenomatous polyposis coli protein 2;adenomatous polyposis coli protein-like protein-coding ENSG00000115266 24036 09802 612034 VALIDATED 736624 APC adenomatous polyposis coli This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] 5 5 q21-q22 112101483 112209835 + 112043202 112181936 + 734579;1331525;1580863;2293188;2317199;2317202;2317200;2317207;2317191;2317198;2317208;2317205;2317206;6480464;6484523;6484525;6484212;6484113;1601201;6907045;7240710;7242056;7242057;7242060;7242059;7242058 1651563;15118671;18432252;15447999;11677205;11891193;7478622;17596282;15467712;1423316;10212000;9369932;17238184;11547943;8090754;17360473;16116480;21599969;10426194;15203750;16959882 20301519;21442240;22294772;19617769;12388762;10773885;11533658;11166179;16188939;8638126;11972058;9601641;11035805;8521819;17570218;17227893;17192415;11283619;14728717;12955080;11955436;12000790;12820959;15327769;16753179;12072559;19694001;21788986;21901162;22073196;22081130;22184111;22262720;18433509;18418860;18406876;18403596;18393246;18393237;18387968;18384130;18375958;18369740;18343606;18337602;18321998;18265644;18224684;18199528;18166348;18160396;18091433;18066497;18063416;18058812;18027849;18026870;17973119;17968317;17964080;17963004;17960617;17954272;17952864;17947477;17920230;17910481;17905526;17882487;17854661;17704924;17665205;17653897;17620292;17572842;17569124;17558858;17556698;17506007;17505512;17489848;17486639;17454753;17418091;17411426;17410430;17368237;17360132;17297457;17255093;17252231;17221838;17189293;17176113;17143620;17143298;17135276;17126424;17119068;17116713;17081983;17080006;17039269;17028196;16981189;16964243;16951153;16855398;16843107;16820884;16804979;16798748;16763565;16710723;16699861;16699180;16680592;16650078;16619216;16569251;16545110;16537703;16525027;16461775;16450383;19606680;19593690;19576224;19571702;19543899;19531215;19527492;19515250;19474113;19470943;19453261;19450512;19378335;19351817;19337631;19309276;19307944;19261806;19196998;19169759;19164452;19124205;19111562;19110823;19064572;19061640;19036155;19035518;19029688;19026650;19013464;18992635;18992263;18987576;18982352;18977219;18955873;18854359;18847451;18844223;18841156;18807072;18774639;18770064;18708403;18676680;18662849;18662704;18632987;18632876;18632657;18632633;18630182;18629513;18617334;18612690;18519734;18498351;18485586;18483325;18477604;18474248;18454178;18451217;16433700;16426911;16423286;16411234;16407829;16382042;16356174;16344560;16322291;16228836;16201232;16184469;16163548;16142311;16088911;16030254;15981102;15959913;15952110;15951963;15943410;15929773;15833136;15832580;15824157;15821699;15768050;15761860;15755874;15754020;15733272;15689459;15640937;15639864;15591320;15561772;15548520;15542524;15540296;15523694;15520370;15507235;15459959;15446460;15375803;15355978;15331612;15326380;15273719;15266213;15257316;15251938;15190067;15133491;15122587;15108288;15040027;15020226;14991743;14961559;14871261;14729851;14691304;14679305;14672538;14662741;14624392;14579148;14578138;14578136;14574158;14573780;14520463;14514668;12907646;12901799;12856637;12800196;12800081;12737446;12655564;12647217;12606575;12584179;12581900;12575848;12538344;12537656;12508668;12504226;12485844;12477932;12439748;12034871;11956815;11933206;11921277;11920497;11912492;11868006;11856748;11809682;11809680;11768390;11768389;11754114;11751382;11748858;11741105;11720476;11707392;11696170;11668620;11606402;11584047;11535846;11487578;11487538;11483640;11470413;11466700;11409872;11389840;11354631;11297546;11241666;11241320;11221825;11159880;11157977;11129339;11076863;11050185;11029657;10982189;10966653;10947987;10926498;10811618;10782927;10749862;10666372;10470088;10188731;9973276;9950360;9811605;9731533;9731522;9724771;9660858;9637688;9419979;9375853;9326658;9286858;9188857;9110174;8990002;8940264;8889548;8638125;8619474;8383094;8259519;8259518;12387883;12378616;12374230;12173321;12173026;12163385;12136240;12124804;12093899;12070164;12057910;12045208;8252630;8111410;7833931;7833149;7744883;7661930;3789010;2797819;1678319;1651562;1338904;1338764;1338691;1310068;10330181;12628243;11712088;11251183;9734785;8074697;7651399;7606712;11585828;15778465;8389242;15572129;15525529;15294866;20696638;22719865;16007220;22434720;22740476;22825279;22077694;22431159;22496417;23291410;20840677;21078161;21315632;19615284;20696900;22761442;22893084;21902576;22277732;22851115;10092233;10656683;10698523;10951583;11136974;11348595;11943150;12952940;15327768;16293619;16329837;16611247;17218255;17222366;17562260;17562262;17588722;17927853;18281465;18486530;18502210;18646694;19170196;19426738;19444466;19448414;19506903;19525225;19527921;19584833;19615732;19625176;19632184;19654215;19672874;19679059;19692168;19701947;19703905;19728755;19768578;19773381;19777185;19793053;19845967;19888426;19889076;19900189;19900451;19912361;19928347;19928349;19928352;19928354;19966865;20007843;20027139;20033212;20056645;20063100;20092957;20149637;20237496;20352275;20437058;20453000;20510605;20513532;7890674;9298899;9482734;20229069;20800603;20844743;20924072;20333795;20935450;20978327;21057000;16199882;16510874;20887112;20936779;9707618;20850014;10330403;20371677;20434453;20473645;20519433;20658693;15342556;19913121;20544848;20570909;20613673;20628086;20696710;19945765;20649969;18070451;16510875;20208994;20971552;22795047;20844082;20978149;16196087;21573497;21737640;21110124;21199875;20564245;21225915;10228155;20685668;19151759;23087084;23277359;21309064;21404461;21311754;15161933;19240029;20360068;21664290;21859464;10074433;23131390;23393221;22741528;22884971;23011394;22987206;22864938;20723290;21279955;21302450;21909382;21865138;22324744;21871439;21598003;16212417;21807601;21207416;21359685;21538028;21904137;21949247;22103048;21665989;21857949;21858148;21900494;21915313;21995949;21484796;21643010;21680534;22000517;22669205;22898821;21139048;21779980;17437043;20128690;22380946;22509309;17110338;22469663;22682247;23382461;23159591;23561487;23326336;15123239;23244118;22372443;23334997;22704062;23159080;22886683;23302090;22787431;22528324;22796397;23055343;21948542 324 B7Z2B6;D6RFL6;E7EMH9;E9PFT7;P25054;Q4LE70;R4GMU6 AB210001;ABBA01069052;ABBA01069053;ABBA01069054;AC008575;AC136500;AF038181;AI492038;AK289567;AK294544;AK309033;AMYH01015547;AMYH01015548;AY682982;AY900441;AY925197;BC034955;BC056268;BE047584;BF112110;BG548363;BM271918;BM713901;BM975470;BP230350;CA313732;DA777787;DA795663;M73548;M74088;NG_008481;NM_000038;NM_001127510;NM_001127511;S56365;S67787;S67788;S78214 AAA03586;AAA60353;AAA60354;AAB21145;AAD13997;AAD13998;AAD14918;AAH56268;AAI11463;AAI11592;AAI11931;AAT81590;AAW82777;AAX07544;BAE06083;BAF82256;BAH11802;NP_000029;NP_001120982;NP_001120983;P25054 Hs.158932 1654104;1667557;1668879;1673300;1675349;1679165;1728927;1735542;1741905;1741907;1743019;1743021;1743845;1743847;1743849;1744219;1744483;1744731;1765631;1771080;1771176;1791708;1791710;1791714;1791716;1791718;2119638;2144728;2152868;2173023;2218230;5092614;5119887 A005A37;APC__4217;Apc;D5S1670E;G32214;GDB:186686;GDB:186687;GDB:186862;GDB:249461;GDB:249465;GDB:374804;GDB:374809;GDB:374815;GDB:437971;GDB:456137;GDB:555538;PMC122454P1;PMC122454P2;PMC122454P4;PMC122454P7;PMC122454P8;RH48628;RH65746;RH66045;RH81025;RH94067;SGC32298;SHGC-149076;SHGC-31463;SHGC-36883;STS-R39438;WI-20484;humapc3 BTPS2;DP2;DP2.5;DP3;GS;PPP1R46 OTTHUMP00000159019;OTTHUMP00000222839;OTTHUMP00000222841;OTTHUMP00000222842;adenomatosis polyposis coli;adenomatosis polyposis coli tumor suppressor;adenomatous polyposis coli protein;deleted in polyposis 2.5;protein phosphatase 1, regulatory subunit 46 APPROVED protein-coding ENSG00000134982 583 01439 114500;114550;135290;175100;611731;613659 REVIEWED 1351282 APCDD1 adenomatosis polyposis coli down-regulated 1 This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010] 18 18 18 p11.22 10337906 10371983 + 10444625 10478694 + 10454625 10488698 + 1580863;6480464;7240710 15498874;15489334;12477932;12384519;20200978;20379614;20393562;21152411;22512811;10878665;21866343 147495 J3KTQ6;J3KTR1;J3QSE3;Q8J025 AB056722;AB104887;ABBA01049968;ABBA01049969;ABBA01049970;AF461902;AK300743;AK303076;AL110199;AMYH01008810;AP001099;BC053324;CH471113;CQ756578;NG_027685;NM_153000 AAH53324;AAQ04816;BAC15563;BAC65165;BAG62412;BAG64192;CAF32599;EAX01585;EAX01586;NP_694545;Q8J025 Hs.293274 1340412;1341022;1656203;1658432;1671498 D18S1376;D18S453;D18S53;D18S986;WI-11680 B7323;DRAPC1;FP7019;HHS;HTS OTTHUMP00000162404;adenomatosis polyposis coli down-regulated 1 protein;hypoptrichosis simplex;protein APCDD1 APPROVED protein-coding ENSG00000154856 15718 09595 605389;607479 REVIEWED 1605849 APCDD1L adenomatosis polyposis coli down-regulated 1-like 20 20 20 q13.32 53774879 53830407 - 56467832 56523355 - 57034426 57089949 - 6480464 16303743;15489334;15465500;14702039;12477932;11780052;20379614;20838585 164284 A2A2P3;F5H6V6;Q8NCL9 ABBA01005977;ABBA01005978;AK074647;AK293299;AL118513;AMYH01012020;BC101758;BC101760;CH471077;CQ782621;NM_153360 AAI01759;AAI01761;BAC11111;BAG56820;CAF85886;EAW75491;EAW75492;NP_699191;Q8NCL9 Hs.119286 1340914;1644481;1688594 D20S164;RH47951;RH75624 FLJ90166;MGC126807;MGC126809;RP4-685L9.2 OTTHUMP00000031398;adenomatosis polyposis coli down-regulated 1 protein-like;protein APCDD1-like protein-coding ENSG00000198768 26892 08294 PROVISIONAL 68444 APCS amyloid P component, serum The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008] 1 1 q21-q23 157824240 157825285 + 159557616 159558661 + 1300286;1580863;6480464 12015594 11441067;11359830;10631319;9217261;8999915;8662978;8417122;8202534;8144569;8114934;7592941;4055725;3915434;3759147;3211159;3172210;3029048;1602151;1477104;81686;11984001;10812074;2987268;10972085;14718574;19052452;19011614;18174230;17676666;17630380;17530641;17138933;16784490;16710414;16643876;16380821;16335952;15837583;15649951;15489334;15174148;15031287;14607961;14519527;14500533;12767937;12528126;12477932;12432394;12126626;12100475;19948975;20237496;20189569;20300636;21044893;21360619;20930309;21278351;20932823;21106539;21223953;22493081;23390551;22205573;22867744;22396542;18624398;21900206;21988832;22939635;23527487 325 P02743 ABBA01016619;AL445528;AMYH01001445;BC007039;BC007058;BC070178;BT006750;CH471121;CR450313;D00097;HC250941;HC311130;M10944;NM_001639;X04608 AAA60302;AAH07039;AAH07058;AAH70178;AAP35396;BAA00060;CAA28275;CAG29309;CBJ05768;CBJ21220;EAW52781;NP_001630;P02743 Hs.507080 1649553;1666462;1669000;1683864;2107841 APCS_8204;D1S2412;D1S3199;RH11639;RH93185 MGC88159;PTX2;SAP 9.5S alpha-1-glycoprotein;OTTHUMP00000024355;pentaxin-related;serum amyloid P-component APPROVED protein-coding ENSG00000132703 584 00101 104770 REVIEWED 2302585 API5P1 API5 pseudogene 1 X X X q24 115898909 115903038 + 115151434 115153741 - 115235619 115239750 - 6480464 10393420 642812 AL732602;AMYH01022870;NG_009200 1671808 RH65627 API5L1 APPROVED pseudo 595 INFERRED 1350631 APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes a protein shown to have a weak class II AP endonuclease activity. Most of the encoded protein is located in the nucleus but some is also present in mitochondria. This protein may play an important role in both nuclear and mitochondrial base excision repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012] X X X p11.21 58861923 58869355 + 55043505 55050937 + 55026780 55034212 + 1580863;6480464;6907045 19443450;19165527;16687656;16189514;15772651;15489334;12477932;11866537;11376153;20843780;12650714;20522537;21832049;22939629;19953087;21139048;21890473;15342556;16341674;22505724 27301 B4DWI9;B7ZA71;E5KN95;Q9UBZ4 AB021260;AB049211;ABBA01069569;AF119046;AJ011311;AK301555;AK316186;AL020991;AMYH01022432;AY884244;BC002959;BI837686;BM795632;BP363514;CH471154;HQ205186;HQ205187;HQ205188;HQ205189;HQ205190;HQ205191;HQ205192;HQ205193;HQ205194;HQ205195;HQ205196;HQ205197;HQ205198;HQ205199;HQ205200;HQ205201;HQ205202;HQ205204;HQ205205;HQ205206;HQ205207;HQ205208;HQ205209;HQ205210;HQ205211;HQ205212;HQ205213;HQ205214;HQ205215;HQ205216;HQ205217;HQ205218;HQ205219;HQ205221;HQ205222;HQ205223;HQ205224;HQ205225;NG_012568;NM_001271748;NM_014481 AAD43041;AAH02959;AAW56941;ABM84595;ABM86482;ADP90654;ADP90655;ADP90656;ADP90657;ADP90658;ADP90659;ADP90660;ADP90661;ADP90662;ADP90663;ADP90664;ADP90665;ADP90666;ADP90667;ADP90668;ADP90669;ADP90670;ADP90672;ADP90673;ADP90674;ADP90675;ADP90676;ADP90677;ADP90678;ADP90679;ADP90680;ADP90681;ADP90682;ADP90683;ADP90684;ADP90685;ADP90686;ADP90687;ADP90689;ADP90690;ADP90691;ADP90692;ADP90693;BAA78422;BAB13764;BAG63051;BAH14557;CAB45242;EAW93208;EAW93209;EAW93210;NP_001258677;NP_055296;Q9UBZ4 Hs.659558 1795364;2191735 APEX2_705;MARC_5951-5952:997299472:1 APE2;APEXL2;XTH2 AP endonuclease 2;AP endonuclease XTH2;APEX nuclease 2;APEX nuclease-like 2;DNA-(apurinic or apyrimidinic site) lyase 2;DNA-apurinic or apyrimidinic site lyase 2;OTTHUMP00000023390;apurinic-apyrimidinic endonuclease 2;apurinic/apyrimidinic endonuclease-like 2 APPROVED protein-coding 17889 06442 300773 REVIEWED 4144507 API5P2 API5 pseudogene 2 2 2 2 q31.2 172462384 172466442 - 178569908 178571743 - 178859544 178863604 - 728664 ABBA01062241;AC011998;AMYH01011304;NG_009199;NG_012168 1702552 GDB:451846 pseudo 39070 INFERRED 735668 APEH acylaminoacyl-peptide hydrolase This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008] 3 3 p21.31 49686439 49695938 + 49711435 49720934 + 1580863;6480464 2006156;16189514;15862967;15489334;12477932;12000146;11921441;10719179;10407158;10395453;8724851;8411161;2565880;2392324;1861871;1740429;1521574;16169070;20307617;18029348;20529763;21297633;22863883;22939629;22505724;18781797;21139048;21890473;21906983;21931648;21987572;21963094;23000965 327 C9JIF9;C9JLK2;F8WBC4;F8WEH5;H0YFE5;H7C1U0;H7C273;H7C393;P13798 ABBA01024577;AC099668;AF141383;AK314962;AMYH01013162;BC000362;BC001499;BC001826;CH471055;D38441;NG_011438;NM_001640 AAF37321;AAH00362;AAH01499;AAH01826;ABM82344;ABM85518;BAA07476;EAW64994;EAW64995;EAW64996;EAW64997;EAW64998;NP_001631;P13798 Hs.517969 1648120;1741429;1744543;1790319 APEH;GDB:181206;GDB:512856;WI-16108 AARE;ACPH;APH;D3F15S2;D3S48E;DNF15S2;MGC2178;OPH AARE;OTTHUMP00000210907;OTTHUMP00000210908;acyl-peptide hydrolase;acylamino-acid-releasing enzyme;acylaminoacyl-peptidase;oxidized protein hydrolase APPROVED protein-coding ENSG00000164062 586 00034 102645 REVIEWED 1606343 APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008] 14 14 q11.2 19993130 19995766 + 20923290 20925931 + 2315676;2315657;2315665;2315666;2315662;2315686;2315670;2315671;2315672;2315673;2315675;2315878;2315663;2315667;2315656;2315660;2315661;2302852;1599366;2315691;6480464;6484113;6907045 15344903;19292061;16406883;11309329;18503157;9030714;18637713;18373555;17602955;17280489;15887293;11465542;17974506;11748448;19787261;19041121;18701435;15854596;11852039;19202550 18263880;18208837;18206643;18179823;18091433;18061304;18053222;18042731;18025089;17991492;17984110;17949784;17938202;17922186;17898541;17855454;17685223;17630376;17614107;17599408;17567611;17567600;17555083;17531525;17515960;17479230;17403694;17374727;17355977;17332344;17324338;17283177;17272283;17230526;17222938;17218168;17203305;17197435;17177211;17126083;17040931;17034901;17028303;16982113;16973282;16966185;16962936;16956909;16889694;16844323;16621887;16609022;16554306;16537925;16492928;16481390;16481227;16356936;16284386;16221808;16195237;16147991;16000577;15942031;15878096;15831793;15824742;15824325;15816625;15746160;15731342;15706084;15694346;15674341;15644200;15635413;15592455;15489334;16425270;15472121;15459284;15380100;15362040;15333465;15316562;15247342;15210853;15113441;15107486;15084314;15044328;14767913;14730972;14704345;11286553;9119221;1722334;12524539;15518571;7961715;10805771;1380454;18029348;9207062;10559261;11250913;19528510;19449863;19414392;19393248;19369898;19367277;19339270;19242824;19237606;19219073;19188445;19188437;19181704;19147860;19124501;19124499;19116388;19097035;19074850;19073198;19064572;19052983;19038866;19029194;18990748;18983843;18971960;18958420;18946634;18830263;18823566;18809583;18805789;18779313;18776186;18712175;18676680;18672023;18669164;18627350;18627000;18515104;18505345;18482781;18478337;18466396;18439621;18436236;18393760;18357393;18353858;18324520;14643949;14633989;14630715;14625810;14599768;14594818;14581338;14521941;12966083;12933815;12860125;12857737;12842873;12628186;12624104;12569263;12555094;12547389;12519758;12480540;12477932;12384995;12242029;12237116;12231548;12230304;12200445;12161506;12110916;12058277;11895912;11866537;11846302;11809897;11707423;11705870;11601988;11452037;11182545;11133992;11118054;11096142;11092888;11084372;11073998;10946230;10667800;10629618;10594042;10585464;10023679;9870152;9361024;9351835;9110174;9108029;8942627;8932375;8621488;8619474;8086453;1719477;1627644;1383925;1380694;1371347;1284593;21451252;22580151;21479902;22652909;20498636;11478795;16978929;19170196;19324449;19351502;19376732;19460860;19470598;19484131;19492297;19524065;19536092;19541747;19592152;19625176;19631633;19692168;19711438;19762350;19782121;19789190;19846872;19896490;19902366;20010699;20032196;20061190;20087352;20133634;20150366;20218738;20218899;20223788;20226869;20231292;20232390;20332233;20354815;20377204;20391347;20403997;20453000;20496165;20522537;20530453;20540786;19643912;20856196;17148573;19934257;20808930;19764832;11832948;19401441;20493910;20534262;20919954;9560228;20606276;20955519;20574454;20601096;20634891;20644561;20720310;20817763;20577654;20699270;20211142;20679741;20731661;20852942;21037106;21030352;20929586;21429202;22863883;21323960;16712791;20633698;21615620;23074184;21832049;22939629;23038158;21132382;21912662;22205985;22243137;18781797;21865600;21987080;21561390;21722819;21198260;22174317;23418439;23544830;22371940;22493391;21467074;21756546;21420246;21538578;21727086;21778470;21900206;22024594;21139048;21769563;21906983;22148505;21110914;22362780;22193858;19805454;23065211;23094050;23110144;23505922;19471022;21935361;22176746;20696907;21044950;22384055;21933813;22306120;22329793;22379092;19505873;22224629;17008916;18850631;23581410;23272074;23485469;23143180;23355472;15735682;22918947;22713458;23479135;23382073 328 G3V2D9;G3V359;G3V3C7;G3V3M6;G3V3Y6;G3V574;G3V5D9;G3V5M0;G3V5Q1;H7C4A8;P27695;Q5TZP7 ABBA01061230;AF488551;AI554786;AK098588;AK291100;AL355075;AMYH01005588;BC002338;BC004979;BC008145;BC019291;BC095428;BT007236;BT020133;BX161454;CB139337;CH471078;D13370;D90373;M80261;M81955;M92444;M99703;NG_008718;NM_001244249;NM_001641;NM_080648;NM_080649;S43127;U79268;X59764;X66133 AAA58371;AAA58372;AAA58373;AAA58629;AAB22977;AAB50212;AAH02338;AAH04979;AAH08145;AAH19291;AAH95428;AAL86909;AAP35900;AAV38935;ABM82740;ABM85924;BAA02633;BAA14381;BAF83789;CAA42437;CAA46925;CAD61917;EAW66463;EAW66464;EAW66465;EAW66466;EAW66467;EAW66468;NP_001231178;NP_001632;NP_542379;NP_542380;P27695 Hs.73722 1744369;1797290;2113864;2170932;2174947;2186296 APEX;APEX1_1488.2;D2S2636;GDB:451907;SHGC-36712;WI-18729 APE;APE1;APEN;APEX;APX;HAP1;REF1 AP endonuclease 1;AP endonuclease class I;AP lyase;DNA-(apurinic or apyrimidinic site) lyase;OTTHUMP00000163988;OTTHUMP00000163989;OTTHUMP00000244791;OTTHUMP00000244792;OTTHUMP00000244793;OTTHUMP00000244795;OTTHUMP00000244796;OTTHUMP00000244798;OTTHUMP00000244800;OTTHUMP00000244801;apurinic-apyrimidinic endonuclease 1;apurinic/apyrimidinic (abasic) endonuclease;apurinic/apyrimidinic exonuclease;deoxyribonuclease (apurinic or apyrimidinic);multifunctional DNA repair enzyme;protein REF-1;redox factor 1;redox factor-1 APPROVED protein-coding ENSG00000100823 587 00136 107748 REVIEWED 5013857 APITD1-CORT APITD1-CORT readthrough This locus represents naturally occurring read-through transcription between the neighboring APITD1 (apoptosis-inducing, TAF9-like domain 1) and CORT (cortistatin) genes. Alternative splicing results in multiple transcript variants, two of which encode fusion proteins that share sequence identity with the products of each individual gene. [provided by RefSeq, Aug 2011] 1 p 10490159 10512060 + 11181995;15328517;20967262;8889548 100526739 Q8N2Z9;R4GMN7 AA858169;ABBA01035603;AF516753;AF521016;AL139424;AL354956;AMYH01000246;CF127457;CF128105;CH471130;HY054077;NM_001243768;NM_001270517;NM_198544;NM_199006;NR_037187 AAM61954;AAM70482;CAI19200;CAI19201;EAW71649;EAW71651;EAW71653;NP_001230697;NP_001257446;NP_940946;NP_950171 Hs.412311 KIAA0591 APITD1-CORT protein;APITD1-CORT read-through;OTTHUMP00000065120;OTTHUMP00000222023 APPROVED protein-coding ENSG00000175279;ENSG00000251503 38843 REVIEWED 1349695 APH1A APH1A gamma secretase subunit This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011] 1 1 p36.13-q31.3 148504423 148508156 - 150237799 150241609 - 2302204;6480464;6484113;6907045 17761886 12297508;15274632;19369254;19368855;19028695;18801744;17059559;16757808;16344560;16303743;15629423;15489334;15322084;15286082;15210705;14702039;14627705;14593096;12975309;12972157;12917438;12740439;12679784;12522139;12477932;12471034;12110170;10810093;14572442;15257293;12857757;12763021;15322109;21123562;20674680;12787561;12843241;15721744;16630834;16641999;17986144;20145246;20299451;20379614;17207965;21443683;15474363;19322201;23291095;21890473;21988832;23253155 51107 B4DUG7;Q5TB21;Q96BI3 ABBA01049330;AC242988;AF151835;AF508787;AK027879;AK075295;AK075452;AK125685;AK297680;AK298832;AK298876;AK300640;AK307358;AK314490;AL138795;AMYH01001373;AX775955;AX775957;AY113698;AY113699;AY358951;BC001230;BC008732;BC009501;BC015568;BC017699;BC020590;BC068606;BI760743;CH471121;CQ783433;DA589586;DC365601;NG_029952;NM_001077628;NM_001243771;NM_001243772;NM_016022;NR_045033;NR_045034;NR_045035 AAD34072;AAH01230;AAH08732;AAH09501;AAH15568;AAH17699;AAH20590;AAM61955;AAM61956;AAN63816;AAQ89310;ADQ31632;ADZ15886;ADZ16087;BAC11529;BAG51389;BAG52142;BAG60040;BAG60962;BAG60993;BAG62329;CAE11677;CAE11678;CAF86638;CAI22811;CAI22812;CAI22813;EAW53565;EAW53566;EAW53567;NP_001071096;NP_001230700;NP_001230701;NP_057106;Q96BI3 Hs.108408;Hs.735911 1652765;1655085;1671882;2150844;2218232;5491270 A004F41;APH-1A__4340;D13S1659;MARC_7139-7140:992008251:1;SGC31751;SHGC-32182 6530402N02Rik;APH-1;APH-1A;CGI-78 OTTHUMP00000014528;OTTHUMP00000014529;OTTHUMP00000037716;anterior pharynx defective 1 homolog A;aph-1alpha;gamma-secretase subunit APH-1A;presenilin-stabilization factor APPROVED protein-coding ENSG00000117362 29509 607629 REVIEWED 1344589 APH1B anterior pharynx defective 1 homolog B (C. elegans) This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011] 15 15 q22.2 61356844 61385166 + 63569749 63601325 + 2302204;6480464;6484113 17761886 12297508;11256614;18987747;17466415;16757808;16381901;16344560;15823552;15629423;15591316;15489336;15489334;15286082;14702039;12975309;12763021;12740439;12477932;12471034;12110170;11230166;11076863;12787561;12843241;12857757;15721744;16630834;17986144;19774691;15474363;21890473;21906983 83464 H0YKZ9;H0YLT0;H0YM95;Q4R1J8;Q8WW43 AA808355;AB189172;AB197122;ABBA01038913;AC016207;AF508794;AI693802;AK057677;AK291204;AK307456;AK307725;AK310843;AL136671;AMYH01006702;AY358698;BC020905;BI825203;CH471082;DA397427;NM_001145646;NM_031301 AAH20905;AAN63817;AAQ89061;ABM82327;BAD95573;BAE02660;BAF83893;CAB66606;CAL37602;CAL37756;EAW77644;EAW77645;NP_001139118;NP_112591;Q8WW43 Hs.511703 1664853;1715165;1736534;1779062;2180977 A007E02;D15S734E;RH119833;STS-N31710;WI-10749 APH-1B;DKFZp564D0372;FLJ33115;PRO1328;PSFL;TAAV688 OTTHUMP00000163761;anterior pharynx defective 1B-like;aph-1beta;gamma-secretase subunit APH-1B;presenilin stabilization factor-like;presenilin-stabilization factor-like APPROVED protein-coding ENSG00000138613 24080 06361 607630 VALIDATED 1320288 API5 apoptosis inhibitor 5 This gene encodes an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 11 11 p11.2 43290109 43322655 + 43333505 43366080 + 1643340;6480464 10780674 11075807;9307294;11555636;19387494;18319255;17112319;17081983;16344560;16083285;15635413;15489334;12703993;12477932;10393420;14702039;21145461;22334682;19821157;19734545;18029348;19661379;20671611;22863883;22939629;21139048;21890473;22145905;19322201;21110914 8539 B4DDR3;B4E283;E9PQK6;G3V1C3;H0YER7;Q9BZZ5 ABBA01060781;AC087276;AF229253;AF229254;AK021649;AK293303;AK294724;AK299288;AK304157;AMYH01003518;AY265973;AY311389;BC015898;BC017709;BF115210;BM193468;BT007093;CH471064;CK904611;DA104687;DC334531;NG_029841;NM_001142930;NM_001142931;NM_001243747;NM_006595;NR_024625;U83857;Y15906 AAB86528;AAH17709;AAK00737;AAK00738;AAO89077;AAP35756;AAQ76714;ABM81597;ABM84778;BAG56824;BAG57871;BAG61304;BAG65045;CAA75867;EAW68098;EAW68099;NP_001136402;NP_001136403;NP_001230676;NP_006586;Q9BZZ5 Hs.435771 1671808;1702552;1748667;5016963;5023279;5124005 GDB:451846;RH11873;RH36898;RH65627;RH69526;SHGC-110333 AAC-11;AAC11;FLJ11587 API-5;FIF;OTTHUMP00000232785;OTTHUMP00000232786;OTTHUMP00000232787;OTTHUMP00000232791;OTTHUMP00000232792;antiapoptosis clone 11 protein;apoptosis inhibitor 5;cell migration-inducing gene 8 protein;fibroblast growth factor 2-interacting factor 2;migration-inducing protein MIG8 APPROVED protein-coding ENSG00000166181 594 16500 609774 REVIEWED 1602808 APITD1 apoptosis-inducing, TAF9-like domain 1 This gene was identified in the neuroblastoma tumor suppressor candidate region on chromosome 1p36. It contains a TFIID-31 domain, similar to that found in TATA box-binding protein-associated factor, TAF(II)31, which is required for p53-mediated transcription activation. This gene was expressed at very low levels in neuroblastoma tumors, and was shown to reduce cell growth in neuroblastoma cells, suggesting that it may have a role in a cell death pathway. The protein is a component of multiple complexes, including the Fanconi anemia (FA) core complex, the APITD1/CENPS complex, and the CENPA-CAD (nucleosome distal) complex. Known functions include an involvement with chromatin associations of the FA core complex, and a role in the stable assembly of the outer kinetochore. Alternative splicing of this gene results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream cortistatin (CORT) gene, as represented in GeneID:100526739. An APITD1-related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2010] 1 1 p36.22 10412746 10434797 + 10490159 10502872 + 6480464 17962439;16622420;16622419;15328517;12477932;11329013;8889548;22510687;19620631;20347429;19913121;20628086;15740626;17207965;21832049;21890473;22705371 378708 K7ESB0;Q8N2Z9 ABBA01035603;AL354956;AMYH01000246;BC029430;BE858209;BG213105;BG546364;BM905996;BU902753;CA311915;CH471130;NM_199294;NR_036462 AAH29430;ADQ32275;CAI19199;EAW71654;NP_954988;Q8N2Z9 Hs.412311 2218416 CORT_4621 CENP-S;CENPS;FAAP16;MGC32686;MHF1 FANCM-interacting histone fold protein 1;Fanconi anemia-associated polypeptide of 16 kDa;OTTHUMP00000065118;OTTHUMP00000065120;OTTHUMP00000222023;apoptosis-inducing TAF9-like domain-containing protein 1;centromere protein S APPROVED protein-coding 23163 609130 REVIEWED 1603043 APIP APAF1 interacting protein APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008] 11 11 11 p13 35051185 35085276 - 34860421 34894484 - 34903842 34937939 - 6480464;6907045 16189514;16344560;15489334;15262985;12477932;10810093;8125298;17207965;20800603;19060904;21602797;22837397;21139048;19322201;23285211;22407486;21382349;23144326;23192037 51074 J3KN82;Q96GX9 ABBA01060863;AC107928;AF088034;AF132963;AK225249;AK226157;AK292648;AK302225;AMYH01003489;BC008440;BC009077;BC017594;CH471064;DA729016;NM_015957 AAD27738;AAH08440;AAH09077;AAH17594;ADQ32639;BAF85337;BAG63579;EAW68161;NP_057041;Q96GX9 Hs.447794 1659304;1707728;5015961;5022322;5109281 D11S2560;D15S1477;D1S1425;SHGC-82079;WI-20739 APIP2;CGI-29;CGI29;MMRP19;dJ179L10.2;hAPIP APAF1-interacting protein;MTRu-1-P dehydratase;OTTHUMP00000232946;methylthioribulose-1-phosphate dehydratase;probable methylthioribulose-1-phosphate dehydratase APPROVED protein-coding ENSG00000149089 17581 14725 612491 VALIDATED 1344091 APLF aprataxin and PNKP like factor C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al., 2007 [PubMed 17353262]).[supplied by OMIM, Mar 2008] 2 2 p13.3 68548246 68660798 + 68694691 68807294 + 6480464 17353262;19155274;18474613;18172500;18077224;17507382;17396150;16344560;15815621;15489334;14702039;12477932;20098424;19661379;21211721;21211722;21414327;21832049;21885877;22190364;23178593 200558 E9PRH6;F8WET0;Q8IW19 ABBA01075486;ABBA01075487;ABBA01075488;ABBA01075489;ABBA01075490;AC105054;AC127383;AC130709;AK290841;AK308186;AMYH01010419;BC030711;BC041144;CH471053;DA641644;NM_173545 AAH41144;AAY14945;AAY24008;AAY24113;BAF83530;EAW99871;EAW99872;NP_775816;Q8IW19 Hs.720369 1668923;2182731 D2S2874;RH17523 APFL;C2orf13;FLJ16593;MGC47799;PALF;Xip1 OTTHUMP00000159966;PNK and APTX-like FHA domain-containing protein;PNK and APTX-like FHA protein;XRCC1-interacting protein 1;aprataxin and PNK-like factor;aprataxin- and PNK-like factor;apurinic-apyrimidinic endonuclease APLF APPROVED protein-coding ENSG00000169621 28724 09848 611035 VALIDATED 1351986 APLN apelin This gene encodes a peptide that functions as an endogenous ligand for the G protein coupled receptor APJ. The encoded protein is synthesized as a prepropeptide that is processed into biologically active C-terminal fragments. The peptide fragments activate different tissue specific signaling pathways that regulate diverse biological functions including fluid homeostasis, cardiovascular function and insulin secretion. This protein also functions as a coreceptor for the human immunodeficiency virus 1.[provided by RefSeq, Feb 2010] X X q25 128607006 128616595 - 128779236 128788933 - 632245;632246;1304466;1580863;1626175;1626176;1626170;1626174;1626186;1626173;1626171;1600932;1626177;2313938;2313942;2313944;6480464 9792798;10525157;14645236;16263185;15664402;17594060;16278229;17119870;16674982;17055480;15970339;17391779;19756893;19015606;18484561 22285858;17128405;17060400;17177135;16723381;16563531;16115460;15772651;15677759;15664671;15489334;15231996;14702039;12975309;12963638;12914775;12798955;12603839;12477932;11090199;10617103;11040134;19307984;19123778;19100414;18845302;18816630;18772060;18617693;18401529;18272843;17906101;17826642;17823846;17412318;20580037;20662349;18240029;18505110;19344973;19527631;19567136;19597036;19643928;19766342;19804703;19926159;19940213;20045153;20055692;20099713;20224560;20485192;20220056;20610231;18577758;20843995;20675385;20943064;20581707;20669343;20676956;21158215;20382684;19913121;20504125;20628086;20495838;20813143;21412239;21358603;21233449;20864562;22895257;22533552;21575945;21264801;22995518;21775567;21821917;21609753;23437347;21448846;21521329;21631898;20652246;21864607;22007137;23226564;23227256;23316219;22360921;22200678;22209991;22037214;22203468;22611158;23227848;23296045;23515451;22780711;19060904;22676366;22944040;22699819;22927708 8862 B2R550;Q9ULZ1 AB023493;ABBA01047827;AF086248;AF179680;AK001855;AK312061;AL022162;AMYH01022963;AY358657;BC021104;BM992527;CH471107;DB481574;NG_016718;NM_017413 AAF25815;AAH21104;AAQ89020;ABM83051;ABM86244;BAA84975;BAG34997;EAX11828;EAX11829;NP_059109;Q9ULZ1 Hs.303084 1689851;2114763;2217018 APLN_3269;RH18197;RH91453 APEL;XNPEP2 AGTRL1 ligand;APJ endogenous ligand;apelin APPROVED protein-coding ENSG00000171388 16665 02246 300297 REVIEWED 736696 APLP1 amyloid beta (A4) precursor-like protein 1 This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 19 19 q13.1 41051241 41062539 + 36359401 36370699 + 734581;1580863;6480464 8432545 16193067;9521588;19401174;19126676;18430897;17709753;16531006;16344553;16169070;15489334;15208260;15146195;14970212;14702039;14699153;14597230;14563850;21952790;15383276;12779321;12477932;12228233;12135352;10578233;10460257;9890987;9729270;9428684;8894693;7929392;7494461;10081969;11247302;14983046;18272596;20049724;21574595;17620599;22178872;21178287;21900206 333 B7Z4G8;F5GZ08;K7ELK0;K7EMN4;K7EMS1;K7EQJ4;P51693 ABBA01018771;ABBA01018772;AD000864;AK092376;AK126907;AK297339;AK297640;AK312292;AMYH01009735;BC012889;BC013850;BC032983;BQ219233;EF036503;NM_001024807;NM_005166;U48437 AAB50173;AAB96331;AAH12889;ABM82267;ABM85449;ABO65089;BAG35219;BAH12554;BAH12638;NP_001019978;NP_005157;P51693 Hs.74565 1654648;1730237;2111113;2160136;2174267;5015861;5020242;5020948;5022651;5037552;7185938;7187020 D10S16;D11S2612;D11S2921;D19S237E;D1S357E;D8S2279;G35510;HSC0VF102;RH66352;SHGC-4198 APLP APLP-1;amyloid precursor-like protein 1;amyloid-like protein 1 APPROVED protein-coding ENSG00000105290 597 00102 104775 REVIEWED 733537 APLNR apelin receptor This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq, Jul 2009] 11 11 q12 56757643 56761489 - 57001051 57004927 - 1580863;1304466;2313945;6480464 14645236;17692936 8294032;9792798;19307984;19123778;19069168;18401529;17826642;17412318;17309882;17128405;16303743;15664671;15489334;15087458;14702039;14675627;14622440;12667811;12603839;12477932;11250876;11004481;10737800;8971794;8889548;11040134;9736741;9653051;20220056;18240029;19527631;19680269;19926159;20055692;20099713;20224560;20353754;18577758;20125035;20485192;20675385;21233449;23438363;21450694;22995518;22112232;21412239;23226564;22109355;22037214;22611158;20921899;22842622 187 B2RDH3;B3KQN4;P35414 ABBA01021468;AK074514;AK075252;AK097232;AK315542;AL548962;AL553350;AMYH01003651;AP001786;BC032688;BI004477;BM698661;BX439288;CH471076;NM_005161;NR_027991;U03642;X89271 AAA18954;AAH32688;ABM81770;ABW03307;BAC11032;BAG37920;BAG52096;BAG53437;CAA61546;EAW73730;NP_005152;P35414 Hs.438311 1651306;1732784;1754009;1772585;1791432;2113962;2151727 A004D04;AGTRL1;D11S1946E;D11S4599;PMC110125P1;RH70528;SHGC-132053 AGTRL1;APJ;APJR;FLJ90771;FLJ96609;HG11;MGC45246 APJ (apelin) receptor;APJ receptor;G protein-coupled receptor APJ;G-protein coupled receptor APJ;G-protein coupled receptor HG11;HG11 orphan receptor;angiotensin II receptor-like 1;angiotensin receptor-like 1;apelin receptor APPROVED protein-coding 339 02503 600052 REVIEWED 1312295 APOA1BP apolipoprotein A-I binding protein The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq, Jul 2008] 1 1 1 q21 129632348 129634881 + 154828182 154830715 + 156561558 156564091 + 6480464 11991719;17533573;17521614;12477932;20634891;20855565;20877624;22360420;20000738;21900206;21139048;21890473;23719382 128240 Q5T3I3;Q5T3I4;Q8NCW5 ABBA01016653;AJ315849;AK294835;AK298222;AL365181;AMYH01001437;BC056917;BC100931;BC100932;BC100933;BC100934;BG723681;BQ430064;CH471121;NM_144772 AAH56917;AAI00932;AAI00933;AAI00934;AAI00935;BAG57944;BAG60492;CAC86580;EAW52941;EAW52942;EAW52943;NP_658985;Q8NCW5 Hs.528320 1666869;1677172;1722569;1730245;2140887;2184095 D5S449E;G60215;RH15878;RH83;WI-13531;WIAF-2182 AIBP;MGC119143;MGC119144;MGC119145;YJEFN1 AI-BP;NAD(P)H-hydrate epimerase;NAD(P)HX epimerase;OTTHUMP00000031989;OTTHUMP00000031990;OTTHUMP00000031991;apoA-I binding protein;apolipoprotein A-I-binding protein;yjeF N-terminal domain-containing protein 1;yjeF_N1 APPROVED protein-coding ENSG00000163382 18453 16397 608862 REVIEWED 731852 APLP2 amyloid beta (A4) precursor-like protein 2 This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 11 11 q24 129445011 129519910 + 129939716 130014706 + 1580863;734582;6480464 8086458 7702756;16193067;8220435;8485127;19126676;18641335;18452037;17452623;17405931;16645641;16279945;15584916;15489334;15208260;15146195;14970212;14702039;14699153;14597230;12595709;12499552;12477932;12372026;12228233;11443060;10702673;10490823;10460257;10081969;9556595;9109675;8894693;8855266;8125298;8020984;7929392;7539437;19019082;11247302;15778465;11746496;9461550;21952790;14983046;17709753;19184004;19808674;20379614;20936779;20732423;17371289;21178287;21459473;21522131;16622416;21875946;21695060;21081666;21826533;21139048;21890473;21906983;21987572;22641691;19322201;21103663;23430252;15231748;20195357;21963094;21988832;23000965 334 B4E3I5;E9PK76;E9PPD0;E9PQS3;E9PSC7;F5GZY0;F5H845;Q9BT36;Q9UED0 AB015751;ABBA01023029;ABBA01023030;AF168956;AK056883;AK122834;AK124457;AK128162;AK225283;AK296765;AK300378;AK304736;AK308248;AK308932;AMYH01004127;AMYH01004128;AP001183;AP003041;BC000373;BC004371;BM992563;BX647107;CH471065;DC336210;L09209;L19597;L23113;L23114;L27631;NG_029770;NM_001142276;NM_001142277;NM_001142278;NM_001243299;NM_001642;NR_024515;NR_024516;S60099;Z22572 AAA35526;AAA35601;AAA36032;AAA36130;AAC41701;AAC60589;AAD47291;AAH00373;AAH04371;ABW03428;ABW03750;BAA34958;BAG54641;BAG59345;BAG62113;BAG65497;CAA80295;EAW67768;EAW67769;EAW67770;EAW67771;EAW67772;EAW67773;EAW67774;NP_001135748;NP_001135749;NP_001135750;NP_001230228;NP_001633;Q06481 Hs.370247 1682559;1732782;1767910;1774254;1782384;2164644;2175794;2181926;5014051;5037552 D11S1945E;D11S3981;D8S2278;D8S2279;RH11795;RH27778;SGC44685;SHGC-153998;SHGC-30035;SHGC-52431 APLP-2;APPH;APPL2;CDEBP CDEI box-binding protein;OTTHUMP00000230926;OTTHUMP00000230927;OTTHUMP00000230928;OTTHUMP00000230929;OTTHUMP00000230930;amyloid precursor protein homolog HSD-2;amyloid protein homolog;amyloid-like protein 2 APPROVED protein-coding ENSG00000084234 598 00103 104776 REVIEWED 1318897 APMAP adipocyte plasma membrane associated protein 20 20 20 p11.2 25017384 25047231 - 24891580 24921425 - 24943580 24973425 - 6480464 18513186;17207965;16335952;15489334;14702039;12975309;12754519;12477932;11780052;10945474;8889548;16169070;11583587;20552250;21139048;21890473;21906983;22267596;22797925 57136 H0Y512;Q9HDC9 AB033767;ABBA01048732;AK025834;AK026866;AK291129;AK301959;AL035661;AMYH01011788;AY359076;BC003501;BG773501;CF131759;CH471133;NM_020531 AAH03501;AAQ89435;ADQ31753;BAB11885;BAB15253;BAB15578;BAF83818;BAG63373;EAX10113;EAX10114;NP_065392;Q9HDC9 Hs.472330 1682672;1683337;1685437;1687373;1688271;1688382;1689223;1712066;1735010;1774757;2120624 A002G20;Bda02b03;D20S566E;G54080;IB2318;RH1693;RH39021;RH39025;RH45409;RH71149;RH76356 BSCv;C20orf3 OTTHUMP00000030464;OTTHUMP00000164236;adipocyte plasma membrane-associated protein;protein BSCv APPROVED protein-coding ENSG00000101474 13238 09840 VALIDATED 735962 APOA1 apolipoprotein A-I This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The protein promotes cholesterol efflux from tissues to the liver for excretion, and it is a cofactor for lecithin cholesterolacyltransferase (LCAT) which is responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. [provided by RefSeq, Jul 2008] 11 11 q23-q24 116211679 116213548 - 116706469 116708338 - 1578410;1599158;1599161;1600654;1331525;1601185;1601187;1601183;1601186;1601188;1580863;1578416;734583;1601184;1578442;2313959;2313960;2313961;2313962;2325756;2325757;2325758;2325759;2325183;5128563;5508213;5508214;5508218;5508219;5508212;5508215;5508216;5508222;5508220;5508221;6480464;6484113;6907045;7240710;7241209;7241214;7241571;7241572;7241573;7241574;7241575;7241576;7241577;7241852;7241863;7241864;2313652;7241867;7241868;7241869;7241855;7241207;7241208 3142462;1466661;2123716;16258026;15118671;12725089;7910586;17217166;9699897;2128269;16011471;9931341;16309370;10428310;9933608;9829487;9649952;9578960;19486127;17332923;17312459;20176799;19399409;20580919;20739292;21726101;19863188;17517342;20847045;20350318;20085559;20463180;21410987;20639628;21730889;21496341;20488818;19637234;18593575;18535924;18287885;18079481;17488882;23078847;20482780;20131231;18614621;23401751;23227448;19561306;22495291;22659101;22515595 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122686;21145806;21420943;21458433;21394531;21631938;21800051;21804189;21367423;21576418;23409054;21443680;19481824;21504968;20360068;21755356;21354994;21138461;21676393;18624398;21734188;21767760;21835924;21870882;21900206;21677994;21749932;21840419;21875686;21944998;22245143;22471842;22674204;22675253;22750655;21801720;21854571;21820994;21355296;22056562;23209431;22483015;15654758;23505323;22105741;22418575;20805508;21846716;22229410;19433579;20686565;21640348;21909109;22119776;22219194;22235130;22271762;22282358;22286219;22320308;21868729;22619369;22407494;23037322;23125458;23183508;23410546;23067370;23088652;23233540;15174051;21988832;23233678;23457133;23454085;10222237;10722751;23119086;23322769;23425306;22986928;23219399;22889670;23096223;21103663;22211563;22916037;16204232;22295944;15358760;17786215;22952757;23154241 335 F8W696;P02647 A14829;A15879;ABBA01039746;AF148963;AF485255;AK292231;AMYH01004055;AP006216;AY422952;AY555191;BC005380;BC110286;CH471065;EF444948;J00098;J04066;M11791;M27875;M29068;NG_012021;NM_000039;X00566;X01038;X02162;X07496 AAA35545;AAA51746;AAA51747;AAA62829;AAB59514;AAD34604;AAH05380;AAI10287;AAL92035;AAQ91811;AAS68227;ABM83999;ABM87329;ACA05932;ACA05933;ACA05934;ACA05935;ACA05936;BAF84920;CAA01198;CAA01253;CAA25232;CAA25519;CAA26097;CAA30377;EAW67274;EAW67275;EAW67276;EAW67277;NP_000030;P02647 Hs.93194 1682900;1694932;1741747;1743823;1744175;1802234;1802782;1804332;2004042;2004044;2004046;2004048;2004050;2004052;2004054;2004056;2004058;2004060;2004062;2004064;2004066;2004068;2004070;2004072;2004074;2004076;2096984;2096986;2155693 ECD02000;ECD02278;ECD03090;G44357;GDB:182584;GDB:374151;GDB:434790;REN72933;REN72934;REN72935;REN72936;REN72937;REN72938;REN72939;REN72940;REN72941;REN72942;REN72943;REN72944;REN72945;REN72946;REN72947;REN72948;REN72949;REN72950;RH11465;RH1581;stSG601816;stSG601817 MGC117399 OTTHUMP00000043268;OTTHUMP00000069346;OTTHUMP00000069347;OTTHUMP00000069348;apo-AI;apoA-I;apolipoprotein A-I APPROVED protein-coding ENSG00000118137 600 02517 105200;107680;604091 REVIEWED 737360 APOA2 apolipoprotein A-II This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. [provided by RefSeq, Jul 2008] 1 1 q23.3 159458707 159460042 - 161192083 161193418 - 1599158;1599161;1300287;1601191;1601190;1580863;1578416;2313955;2313956;2313960;2313961;2313962;2313957;2313959;2313958;6480464;7240710 1466661;2123716;12738753;9002300;9489233;16011471;19817643;17923573;9829487;9649952;9578960;11246886;9933608;11126402 11162594;218942;9651324;14967812;1606170;10764676;17264082;11991719;7918467;8106353;8636092;12458630;11591715;8640403;14988251;11551871;8245722;12692552;4345202;14718574;16682745;19336475;19285487;19216768;19069164;18766253;18676680;18660489;18652418;18636124;18269685;18179799;17709437;17652309;17446329;16990646;16710414;16407233;16368749;16254078;15922294;15833935;15489334;15388641;15247216;14650352;12959642;12690114;12642785;12522687;12477932;12269810;12136402;12136239;12116266;12116231;12032642;11971944;11714842;9469594;7518568;6816269;6789904;6438100;6433912;6428397;6407957;6328445;6315718;6090207;6089788;4344225;4338591;3935800;3136074;3104518;3088392;2995928;2989800;2415515;2414299;2107739;1908160;210174;12576517;12562854;22723940;21300819;20022911;19170196;19193611;19423540;19618959;19625176;19635584;19651918;19692168;19778946;19878569;19901143;19910634;19948975;20031551;20331378;20406964;20430392;20438785;19913121;20602615;20628086;20679960;20855565;20975728;17786215;10722751;15174051;21501035;21386805;22235130;21103663;23241412;23025327 336 P02652;Q76EI7 AB106565;ABBA01016596;AK312034;AL590714;AMYH01001457;AY100524;BC005282;BT006786;CH471121;M29882;NG_012043;NM_001643;X00955;X02619;X02905;X04898 AAA51701;AAH05282;AAM49807;AAP35432;ABM83419;ABM86631;BAD05173;BAG34971;CAA25467;CAA26474;CAA26665;CAA28583;EAW52618;EAW52619;EAW52620;EAW52621;EAW52622;NP_001634;P02652 Hs.237658 1682866;2140058;2149301;2156650 APOA2;SHGC-17;SHGC-2468;SHGC-32683 Apo-AII;ApoA-II;apoAII OTTHUMP00000032244;apolipoprotein A-II;apolipoprotein A2 1643243;2314798;2314801;2315058;2315765;2315816;2316879 BW132_H;GLUCO117_H;GLUCO120_H;GLUCO133_H;GLUCO149_H;GLUCO177_H;GLUCO304_H APPROVED protein-coding ENSG00000158874 601 00129 107670;143890 REVIEWED 6906997 APOBEC3A_B APOBEC3A and APOBEC3B deletion hybrid This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. The protein encoded by this gene is the same as that encoded by APOBEC3A; however, this gene is a hybrid gene that results from the deletion of approximately 29.5 kb of sequence between the APOBEC3A gene and the adjacent gene APOBEC3B. The breakpoints of the deletion are within the two genes, so the deletion hybrid is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. [provided by RefSeq, Jul 2012] q13 GRCh37 novel patch 16407327;16527742;17447845;17727729;17977970;18403710;19461882;19788695;20062055;20178977;20615867;21123384;21460793;21957290;22272271 100913187 P31941 AC192820;GL383583;NM_001193289 NP_001180218 Hs.226307 1658634 STS-T64880 probable DNA dC->dU-editing enzyme APOBEC-3A protein-coding 44196 REVIEWED 737553 APOA4 apolipoprotein A-IV Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008] 11 11 q23 116196628 116199221 - 116691418 116694011 - 1578411;1331525;1580863;1578416;1578442;5685680;5685681;5685682;5685641;5685646;5685649;5685660;5685638;5685661;5685691;5685637;5147768;5685642;5685665;5685692;5685679;5685648;5685659;5685662;5685673;5685694;5685702;2311210;6480464;5685683;5685688;5128563;5685667;5685672;5685678;5685658 12676816;15118671;16011471;10428310;11555832;9272683;10559562;21078314;20367977;19383442;17206692;21356380;16013913;19379511;21569504;21297956;20810159;16372267;19081814;12836058;19589605;18061280;16815451;226830;10892728;2050689;2120218;9013087;22146476;20580919;15254593;2167514;7958503;18343991 16945374;1935934;3080432;11940599;11162594;16159879;3095477;18029348;12692552;4345202;14718574;19433068;19403283;19336561;19336475;19336370;19263529;19166692;19131662;19074352;19060911;19060906;19057464;18996102;18948973;18789138;18678879;18676680;18664021;18660489;18636124;18513389;18430727;18193044;18193043;17964293;17855807;17825930;17712726;17654446;17457002;17378725;17261136;17130180;16929032;16788210;16781717;16770585;16763159;16710093;16651467;16602826;16338932;16326171;16321685;16120654;16105043;16030523;15962178;15928313;15910632;15868628;15864114;15823278;15806598;15764642;15721024;15649902;15559160;15489334;15488874;15359534;15311933;15304365;15258202;15252864;15175360;15108119;14751811;12962772;12860258;12777472;12697303;12691171;12664082;12556235;12495081;12477932;12417525;12220435;12121350;12116231;12082592;11952809;11941585;11841825;11592042;11583715;11472750;11254757;11181750;11108737;10391210;10069372;9988739;8956036;8688083;7728150;6706947;3931073;3755616;3611972;3095836;3036793;2930771;2351649;2331673;2216752;1973689;1737067;1677358;1487136;1349197;2065039;17154273;19170196;19592705;19625176;19689828;19692168;19701693;19732897;19878569;19913121;19948975;20031551;20117098;20164363;20430392;2307668;20609189;20864672;20602615;20628086;20674306;20714348;20554794;21378990;21127258;21324458;23338533;21407247;21767760;21712729;23505323;20686565;21909109;22286219;23132909;23288849;15174051;23096082;22916037 337 P06727;Q13784 ABBA01039746;AL531739;AMYH01004055;AP006216;AY422950;AY555191;BC074764;BC113594;BC113596;CH471065;J02758;M10373;M13654;M14566;M14642;NG_012044;NM_000482;X13629 AAA51744;AAA51745;AAA51748;AAA96731;AAB59516;AAH74764;AAI13595;AAI13597;AAQ91809;AAS68228;ADR82972;ADR83153;CAA31955;EAW67271;NP_000473;P06727 Hs.1247 1694944;1741807;1741955;1744729;1816102;1816280;1817652;1822700;1837992;2004154;2004156;2004158;2004160;2004162;2004164;2004166;2004168;2004170;2004172;2004174;2004176;2004178;2004180;2004182;2004184;2096962;2096964;2096966;2159678 ECD09091;ECD09182;ECD09878;ECD12438;ECD20167;G44371;GDB:185195;GDB:187004;GDB:555472;REN72989;REN72990;REN72991;REN72992;REN72993;REN72994;REN72995;REN72996;REN72997;REN72998;REN72999;REN73000;REN73001;REN73002;REN73003;REN73004;WI-19503;stSG601802;stSG601803;stSG601804 MGC142154;MGC142156 OTTHUMP00000043267;apo-AIV;apoA-IV;apolipoprotein A-IV;apolipoprotein A4 2289454 BW298_H APPROVED protein-coding ENSG00000110244 602 00130 107690 REVIEWED 6480861 APOBEC3B-AS1 APOBEC3B antisense RNA 1 q13.1 100874530 CX754295 Hs.626951 APPROVED miscrna 43836 736192 APOA5 apolipoprotein A-V The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009] 11 11 q23 116165296 116167794 - 116660086 116663136 - 631983;70662;1578411;1578414;1331525;1578412;1578416;2313317;2313314;2313328;2313315;2313318;2313319;2313321;2313322;1601661;6480464;7240710 11588264;11577099;12676816;12818421;15118671;15306190;16011471;18468520;19107359;16238453;18789138;17548321;17087641;16039297;15177130;15941710 21209257;18946207;15117734;12477932;12436249;15178420;15878877;17326667;18635818;16806135;15528295;19629056;19534808;19530961;19403283;19344899;19343127;19336475;19336370;19253837;19207029;19187029;19185284;19159622;19150068;19148283;19141870;19121291;19074352;19060911;19060906;19057464;19056598;19056482;19055447;19034316;19018513;18974842;18801202;18779834;18678879;18660489;18658049;18607181;18603531;18601598;18601597;18596051;18579034;18577813;18572192;18549811;18543217;18537870;18441017;18424353;18395529;18302531;18274806;18274205;18263854;18206649;18193158;18193044;18193043;18179892;18159097;18087544;18078817;18056685;17997385;17964293;17957227;17936576;17922432;17922054;17855807;17768309;17766366;17726453;17722232;17717288;17705673;17700364;17693622;17635078;17548323;17495607;17493548;17485571;17460328;17457003;17431185;17378725;17356049;17222847;17211608;17197160;17183147;17157483;17142127;17032446;16954607;16943456;16917759;16887900;16861622;16806226;16781717;16777114;16769999;16763159;16710093;16687148;16682041;16670016;16636175;16531747;16474174;16448983;16410456;16401313;16386743;16386723;16375582;16325772;16321685;16311097;16258166;16192625;16143024;16054149;16051671;16046221;16006256;15996212;15952115;15941721;15924804;15877284;15857156;15841042;15790933;15781255;15684402;15649902;15636639;15604515;15591215;15542401;15489334;15447887;15369751;15342688;15317819;15300628;15157276;15151505;15135251;15131258;15108119;15046561;14984471;14959997;14732475;14729863;14613578;12975309;12951359;12937897;12920097;12915450;12899628;12810715;12752569;12747596;12709436;12697303;12671030;12637506;12615678;21143013;21238903;22718631;22576629;12417525;12417524;12417270;21463987;21130994;20571505;20628086;20634891;20657596;20674306;20679960;20688329;20696075;20708914;20802161;16344560;16510431;19185864;19362162;19410254;19447388;19567162;19578796;19592705;19656773;19665689;19692219;19701693;19732897;19765959;19825998;19828688;19847674;19878569;19910639;19913121;19915960;19932084;19948975;20031591;20054229;20059973;20137539;20160193;20170397;20303129;20304614;20331378;20392444;20395964;20400780;20413122;20429872;20430392;20442857;20452521;20480398;20490738;22955952;23150946;20469899;20714348;20855565;20869952;20883102;21033077;21054477;20047745;20966404;20838585;20864672;20604726;21287515;21347282;21378990;21386085;21324458;20134407;21489765;22796346;22809445;21423763;21646779;22008704;21438666;21548985;23000161;21132386;21643755;21854571;20686565;21729881;21909109;22171074;22286219;22359512;22437554;21914952;22425169;21707471;23009782;23505323;21375366;21889769;21993410;21505768;22239554;22517333;23266809;22914599;23129316;23251661;21988832;22905904;23065249;23329134;21473680;22350263;22916037;22675253;22688093;22914552;23312054 116519 C9JZZ0;Q6Q788 ABBA01039747;AF202889;AF202890;AK292739;AK308047;AK315229;AMYH01004054;AP006216;AY358749;AY422949;AY555191;BC101787;BC101789;CH471065;DA641693;DB184692;EF444949;NG_015894;NM_001166598;NM_052968 AAF25661;AAF25662;AAI01788;AAI01790;AAQ89109;AAQ91808;AAS68229;ACA05937;ACA05938;BAF85428;BAG37658;EAW67269;EAW67270;NP_001160070;NP_443200;Q6Q788 Hs.283923 1803866;1804686;1805656;1805704;1811518;2004356;2004358;2004360;2004362;2004364;2004366;2004368;2004370;2004372;2004374;2004376;2004378;2004380;2004382;2004384;2004386;2004388;2004390;2004392;2004394;2004396;2004398;2096916;2096918;2096920 ECD02845;ECD03275;ECD03778;ECD03802;ECD06759;REN73090;REN73091;REN73092;REN73093;REN73094;REN73095;REN73096;REN73097;REN73098;REN73099;REN73100;REN73101;REN73102;REN73103;REN73104;REN73105;REN73106;REN73107;REN73108;REN73109;REN73110;REN73111;stSG601776;stSG601777;stSG601778 APOA-V;APOAV;FLJ97995;MGC126836;MGC126838;RAP3 OTTHUMP00000043271;OTTHUMP00000069351;apo-AV;apolipoprotein A-V;apolipoprotein A5;regeneration-associated protein 3 APPROVED protein-coding ENSG00000110243 17288 06966 144650;145750;606368 REVIEWED 736126 APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. [provided by RefSeq, Jul 2008] 12 12 p13.1 7693263 7709769 - 7801996 7818502 - 1580863;1626277;1626278;625559;1578416;6480464 11116209;8781289;12020819;16011471 7736571;8078915;17696929;16999936;15979078;15659357;15516966;14559896;12896982;12881431;12683974;12477932;11815617;11727199;11698249;11584023;11577082;11352648;10781591;10669759;9479499;9186903;8999814;8999813;8692961;8208612;7698776;11134005;19911124;19932086;19965785;20331378;20348446;19913121;20628086;18051367;18971252 339 P41238;Q4VB33 AB009426;ABBA01012203;ABBA01012204;AC006927;AI862416;AMYH01004215;AMYH01004216;BC096158;BC096159;BC096160;BC096161;BC101404;BC101405;BC101972;BC101973;BC144708;CH471116;L25877;L26234;NM_001644;U72890;U72891;U78720 AAA64230;AAA86766;AAD00185;AAD09567;AAD10701;AAH96158;AAI01973;AAI01974;AAI72305;BAA23882;EAW88660;EAW88661;NP_001635;P41238 Hs.560 APOBEC-1;BEDP;CDAR1;HEPR C->U-editing enzyme APOBEC-1;OTTHUMP00000180598;apolipoprotein B mRNA editing enzyme complex-1;apolipoprotein B mRNA-editing enzyme 1 APPROVED protein-coding ENSG00000111701 604 02531 600130 REVIEWED 735787 APOB apolipoprotein B This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008] 2 2 p24-p23 21077806 21120450 - 21224301 21266945 - 1578415;1578417;1578418;1578419;1578425;1599164;1599165;1580998;1331525;1601202;1601197;1601200;1580863;1578416;1601198;1601203;1626106;2313974;2313976;2313977;2312763;2313981;2313973;2313979;2313980;2313972;1642185;2325763;2325764;2325770;2325761;2317550;1599167;6480464;6484113;7240710 9603795;1732399;9585673;7627691;11903341;3473077;16719989;12730697;15118671;16752182;17045270;16797745;16011471;16828905;16728468;17380167;19592617;19448981;19412820;19260948;18945923;2352345;19324028;19171731;1579407;17292734;18076041;17696941;17203948;20082485;18296645;16581047 20213498;22441101;16920700;16895799;16854991;16801176;16792510;16776623;16758614;16704977;16634094;16620782;16614317;16596945;16545386;16544732;16525840;16455106;16419488;16412386;16389549;16386541;16335952;16316917;16203724;16201717;16159606;16156669;16152798;16136540;16030169;16015283;16007035;15918022;15904989;15890894;15867268;15856946;15830122;15823288;15823278;15795421;15790761;15701167;15699916;15653747;15637307;15630635;15630279;15618547;15616123;15614026;15591776;15585207;15561934;15543563;15504742;15489541;15477777;15469418;15453913;15358600;15355439;15321839;15321838;15321837;15258202;15256516;15254032;15242863;15223114;15207528;15186963;15135253;15135251;15135245;15133863;15111985;15102883;15076187;15047470;15028112;14967820;14967814;14763605;14760718;14746139;14732481;14726411;14718574;14706682;14618390;14567398;14550622;13130121;12964943;12942366;12901521;12895336;12872264;12850958;12818419;12778454;12774037;12760590;12760338;12752570;12736910;12713147;12691171;12670940;12640502;12582154;12576514;12561593;12551903;12547700;12544508;12535758;12529498;12505152;12492446;12477932;12417285;12397634;12397072;12373055;12368141;12235182;12235173;12208478;12206678;12177061;12124991;12082592;12070165;15797858;9685400;2563166;7126555;8245722;19114110;17244792;18322245;15308631;6099394;221835;12692552;4345202;8300609;9548923;1917954;4363408;7853698;19642912;19513531;19501493;19494537;19479237;19449275;19409916;19408349;19342510;19336475;19336370;19319977;19318025;19282863;19263529;19257963;19200547;19200542;19191080;19164805;19156195;19155782;19150065;19148283;19131662;19124125;19122170;19105467;19098283;19084451;19083997;19072566;19064256;19060911;19060910;19060906;19056482;19056372;19034549;19020660;19007590;18940289;18927546;18925970;18728123;18725409;18710658;18701171;18696186;18684539;18665040;18660489;18658047;18636124;18632179;18599996;18597093;18590467;18566298;18550891;18513389;18512131;18496130;18492086;18473452;18393233;18388068;18387362;18354102;18279815;18262040;18258526;18254714;18222178;18193581;18193044;18193043;18187430;18160469;18078817;18067093;18031309;18028451;18027103;17964958;17890784;17884995;17855807;17784784;17698072;17698027;17690102;17672218;17659091;17647275;17640344;17633563;17601988;17595251;17588943;17566095;17548929;17539906;17530370;17502298;17484618;17462654;17457002;17444660;17393220;17393087;17367707;17350490;17349073;17347910;17337758;17299378;17288985;17277465;17277381;17264219;17233885;17214991;17194460;17160438;17158591;17142622;17137217;17129575;17111197;17109403;17071710;17046772;17043676;17038630;17032131;17029200;16989840;16981218;16978902;16963757;16925469;12031600;12011770;11947895;11940087;11940084;11898622;11882317;11869298;11857554;11840804;11833852;11781700;11748351;11737238;11727199;11714857;11575217;11568510;11471883;11459425;11428473;11359462;11359065;11358959;11341749;11333259;11208426;11171287;11170229;11074075;10679026;10513896;12044583;12038793;10330424;9915855;9694898;9565615;9490296;9259199;9252351;9012650;8889592;7883971;6373369;3903660;3860836;3860811;3841481;3841204;3773997;3763409;3759943;3680528;3676265;3659919;3652907;3621347;3522585;3513177;3464946;3461454;3455779;3426612;3346254;3284790;3095664;3087360;3030729;3024665;3022788;3012797;3001697;2994225;2932736;2883086;2567736;2495826;2450346;2445342;2216805;2115173;1979313;17823116;14498830;21356116;22916037;20080084;20506408;20539018;20110441;16233946;16548883;17463246;18720163;18774540;18848826;19022789;19170196;19305020;19344897;19450572;19551315;19578130;19592048;19625176;19632678;19646550;19656773;19667110;19680556;19689828;19692168;19713274;19713673;19729411;19729601;19729689;19766218;19772655;19773416;19802338;19841959;19843101;19860767;19888660;19906129;19913121;19915960;19923980;19932694;19934556;19948975;19956635;19965785;20019594;20031551;20032471;20059992;20099167;20133978;20145306;20150556;20160193;20167577;20167655;20197510;20236128;20353182;20370913;20379614;20383777;20403997;20425806;20452482;20459474;20503456;7592581;20368199;20538126;19797257;20181985;20407020;20413671;20932654;20609357;20872969;23391187;20536507;20565774;20570668;20602615;20628086;20634891;20635694;20657596;20673868;20679960;20724655;20339536;20858904;20382384;20466372;20691427;20691829;20837003;20855565;20864672;20930716;20972250;21039385;21059979;20538481;21393584;20663853;21357823;20816677;21078674;21402897;9765244;21122859;21129357;21129746;10574922;21502677;18948618;21122858;21394531;21800051;22607125;22964994;22985435;22762727;21421992;21460103;22826357;22906437;23067240;21138461;21801720;21404224;21418831;21868729;22581286;21310214;22190736;21960651;23068583;23444115;22905400;22913027;22105741;22301884;22238364;22321874;22341868;21139048;21693764;21906983;22128163;22074108;22408029;22443280;22546827;21952877;20686565;21497351;21640348;21641598;21722902;21943158;21946533;21958700;22041135;22095935;22145905;22223728;22247256;22268108;22353362;22399527;22437562;22507620;22751103;22760866;23118302;23247145;22897442;23410546;22786447;22827961;23171143;21988832;23457133;22407494;22211563;22471842;22674204;22717515 338 A8MUN2;Q13787;Q59HB3;Q7Z7Q0 AB208846;ABBA01045079;AC010872;AC115619;AJ399514;AK290844;AMYH01010157;AY324608;BC051278;CH471053;HM487065;J02610;J04838;K03175;M10374;M12413;M12480;M12681;M14081;M14162;M15053;M15421;M17367;M17779;M18036;M18471;M19734;M19828;M31030;M36676;NG_011793;NM_000384;X03045;X03324;X03325;X03326;X04506;X04714;X04867;X04868;X04869;X04870 AAA35541;AAA35544;AAA35548;AAA35549;AAA51741;AAA51742;AAA51750;AAA51751;AAA51752;AAA51753;AAA51754;AAA51755;AAA51756;AAA51758;AAA51759;AAA53373;AAA53374;AAB00481;AAB04636;AAB60718;AAH51278;AAP72970;AAX88848;AAX93246;ACX32319;ADN03360;BAD92083;BAF83533;CAA26850;CAA27043;CAA27044;CAA27045;CAA28191;CAA28420;CAA28558;CAA28559;CAA28560;CAA28561;EAX00801;EAX00802;EAX00803;NP_000375;P04114 Hs.120759 1657961;1684632;1694908;1740901;1740971;1740977;1740987;1741237;1741475;1741703;1741819;1741821;1741825;1741827;1742179;1745693;1776910;1795366;1856098;2147554;2147620;2157000;2163752;2164408;2167245;2173718;2177995;2181174;2184063;2184513;5020956;5118067;5119673;5119823 APOB;APOB_711;D2S2580;D2S2589;G44341;GDB:171933;GDB:177076;GDB:177093;GDB:177207;GDB:178354;GDB:179436;GDB:181235;GDB:182191;GDB:182192;GDB:185253;GDB:185254;GDB:185282;GDB:185295;GDB:193044;GDB:631915;GDB:681390;RH45452;RH68521;RH68973;RH69077;RH69778;RH70147;RH70400;RH80663;SGC34589;SHGC-33615;SHGC-33670;SHGC-34591;SHGC-56579 FLDB;LDLCQ4 OTTHUMP00000115994;apo B-100;apoB-100;apoB-48;apolipoprotein B (including Ag(x) antigen);apolipoprotein B-100;apolipoprotein B48;apolipoprotein b;mutant Apo B 100 1643262;1643271 BW207_H;BW214_H APPROVED protein-coding ENSG00000084674 603 00133 107730;144010 REVIEWED 1344652 APOBEC3E apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene 22 q13.1-q13.2 37753481 37758367 + 11863358 140565 AL022318 pseudo 17355 1318670 APOBEC2 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 6 6 6 p21 42573621 42585311 + 41128991 41140233 + 41020940 41032630 + 1580863;6480464 10403781;18974842;17187054;15489334;14574404;12683974;12477932;11698249;8999814;8125298;8078915;19911124;20138841;21469143 10930 B4DUL0;Q9Y235 ABBA01050760;ABBA01050761;AF086496;AF161698;AI096570;AK223461;AK300689;AK308197;AK310006;AK313288;AL031778;AMYH01016291;BC047767;BC069688;BC069764;BI438931;CB051273;CH471081;NM_006789 AAD45360;AAH47767;AAH69688;AAH69764;BAD97181;BAG36096;BAG62372;EAX04009;NP_006780;Q9Y235 Hs.555915 1700362;2109051 APOBEC2_9198;RH103801 ARCD1;ARP1 OTTHUMP00000016367;apolipoprotein B mRNA editing enzyme, catalytic polypeptide 2;probable C->U-editing enzyme APOBEC-2 protein-coding 605 07268 604797 VALIDATED 1351728 APOBEC3A apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 22 22 q13.1-q13.2 37683569 37689134 + 39353527 39359188 + 1580863;6480464 17447845;19788695;22457529;21957290;19461882;18403710;17977970;17727729;16407327;16344560;15489334;15461802;12859895;12683974;12539042;12477932;11863358;10737800;10591208;10469298;1286667;16527742;20615867;19911124;20062055;20178977;20972438;21123384;22948384;21460793;22798497;22977230;22272271;21963094;23000965;21279453;21906983;22822074;19008196;19038776;20012521 200315 B7ZLZ1;P31941 ABBA01055544;AL022318;AMYH01012771;BC126416;BC144146;BI029063;CH471095;CR456393;DB322320;NM_001270406;NM_145699;U03891 AAA03706;AAI26417;AAI44147;ADR82854;CAG30279;CAK54381;CAK54680;EAW60278;NP_001257335;NP_663745;P31941 Hs.226307 1658634;5015881;5021872;5022651;5037552 D11S2921;D8S2279;GDB:335751;STS-T64880;sY3084 A3A;ARP3;PHRBN;bK150C2.1 DNA dC->dU-editing enzyme APOBEC-3A;OTTHUMP00000198910;phorbolin 1;phorbolin-1;probable DNA dC->dU-editing enzyme APOBEC-3A APPROVED protein-coding ENSG00000128383 17343 06168 607109 REVIEWED 1347030 APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. A hybrid gene results from the deletion of approximately 29.5 kb of sequence between this gene, APOBEC3B, and the adjacent gene APOBEC3A. The breakpoints of the deletion are within the two genes, so the deletion allele is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 22 22 q13.1-q13.2 37708351 37718729 + 39378404 39388784 + 1580863;6480464 11863358;18403710;18024895;17977970;17447845;17020885;16648136;16407327;16060832;15489334;15466872;15461802;15269786;12859895;12683974;12477932;22457529;10591208;10469298;20684727;16527742;19698078;19911124;20104108;21715505;21878639;22446380;21139048;21906983;22108670;11337467;23150777;23542011;21963094;23000965;23389445;16699599;15296758;16414984;17067930;17083721;17303427;18304004;18577210;19008196;19038776;20174454;22720156 9582 B0QYD3;Q9UH17 ABBA01055544;AK024854;AL022318;AMYH01012771;AU098564;AY743217;BC031803;BC053859;BX114955;CH471095;CT841510;NM_001270411;NM_004900;U61083;U61084 AAD00089;AAD00090;AAH53859;AAW31743;CAJ86440;CAK54382;CAK54462;CAK54681;CAK54761;EAW60279;EAW60280;EAW60281;EAW60282;NP_001257340;NP_004891;Q9UH17 Hs.226307;Hs.658626 1658634 STS-T64880 A3B;APOBEC1L;ARCD3;ARP4;DJ742C19.2;FLJ21201;PHRBNL;bK150C2.2 DNA dC->dU-editing enzyme APOBEC-3B;OTTHUMP00000199088;OTTHUMP00000199089;OTTHUMP00000199090;cytidine deaminase;phorbolin 2;phorbolin 3;phorbolin-1-related protein;phorbolin-2/3;probable DNA dC->dU-editing enzyme APOBEC-3B APPROVED protein-coding ENSG00000179750 17352 06169 607110 REVIEWED 1345381 APOBER1 apolipoprotein B mRNA editing enzyme regulator 340 606 1349209 APOBEC3D apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 23219153 23231291 + 37747173 37751626 + 39417118 39429256 + 1580863;6480464 19088851;16920826;16648136;16344560;15516966;15496550;15461802;15269786;12859895;12683974;12477932;11863358;10737800;10591208;23097438;22807680;22205746;22505724;22720156;18304004;18577210;19008196;19038776;19344514;19535450;19649317;20012521;20096141;20174454;20943965;21835787;22203821;19738201 140564 B2CML4;Q6ICH2;Q96AK3 ABBA01055546;AL022318;AMYH01012771;BC017022;BE888971;BF832090;BM917407;BX340829;CH471095;CR456396;DA287097;DB121958;EU527884;NM_152426 AAI48620;AAI53186;ACB32248;CAG30282;CAK54385;CAK54684;EAW60285;EAW60286;NP_689639;Q96AK3 Hs.629775;Hs.658626 2144544;2162869;5015619;5037552 D11S3114;D8S2279;G18167;RH65953 A3D;APOBEC3DE;APOBEC3E;ARP6 DNA dC->dU-editing enzyme APOBEC-3D;OTTHUMP00000199087;apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative);apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene;apolipoprotein b mrna editing enzyme, catalytic polypeptide-like 3d;probable DNA dC->dU-editing enzyme APOBEC-3D APPROVED protein-coding ENSG00000243811 17354 16501 609900 REVIEWED 1604731 APOBEC3H apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H This gene encodes a member of the apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3 family of proteins. The encoded protein is a cytidine deaminase that has antiretroviral activity by generating lethal hypermutations in viral genomes. Polymorphisms and alternative splicing in this gene influence its antiretroviral activity and are associated with increased resistence to human immunodeficiency virus type 1 infection in certain populations. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] 22 22 q13.1 37823236 37829946 + 39493229 39500072 + 21167246;22457529;18945781;18827027;18779051;18420796;18403710;18299330;16571802;15461802;12683974;12477932;21270145;19828612;19939923;20519396;22013041;21653666;22023594;22859935;19344514;19649317;19694548;20096141;20174454;20519393;21835787;22203821;22205746;22720156 164668 B7TQM3;B7TQM9;Q6NTF7 ABBA01055549;ABBA01055550;AL031846;AMYH01012771;AMYH01012772;AMYH01012773;BC069023;BQ052182;BQ054330;BU585251;CH471095;CR456481;FJ376611;FJ376612;FJ376613;FJ376614;FJ376615;FJ376616;FJ376617;NM_001166002;NM_001166003;NM_001166004;NM_181773 AAH69023;ACK77772;ACK77773;ACK77774;ACK77775;ACK77776;ACK77777;ACK77778;CAG30367;EAW60294;EAW60295;EAW60296;NP_001159474;NP_001159475;NP_001159476;NP_861438;Q6NTF7 Hs.440515 1771297 D22S1134 A3H;ARP10;dJ742C19.2 APOBEC-related protein 10;ARP-10;DNA dC->dU-editing enzyme APOBEC-3H;OTTHUMP00000199085;OTTHUMP00000199086;apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3H APPROVED protein-coding ENSG00000100298 24100 16508 610976 REVIEWED 1317202 APOBEC3C apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. [provided by RefSeq, Jul 2008] 22 22 q13.1 37740211 37744789 + 39410265 39414843 + 6480464 17353931;19581596;19390611;19088851;18702815;18555089;18420796;18419775;18391217;18032489;17977970;17967058;17672864;17625792;17582006;17371941;17078485;16735504;16060832;15956565;15862967;15489334;15466872;15461802;12859895;12683974;12477932;11863358;10591208;10469298;16414984;15809227;21368204;19369234;19911124;20096141;14702039;23001005;22948384;16527742;21430060;21139048;21890473;21906983;21279453;19738201;21988832;23000965;19322201;22145963;21746770;18304004;18495196;18577210;18806783;18846074;19109396;19535450;20012521;20174454;20926562;20943965;22205746;22379088 27350 F8WB92;Q9NRW3 AB208979;ABBA01055545;ABBA01055546;AF165520;AK094570;AK313272;AL022318;AMYH01012771;BC011739;BC021080;CH471095;CQ834178;CR456394;NM_014508 AAF86650;AAH11739;BAD92216;BAG36081;CAG30280;CAH05304;CAK54383;CAK54682;EAW60283;EAW60284;NP_055323;Q9NRW3 Hs.441124 2218234;5123219 APOBEC3C__4342;STS-N58010 A3C;APOBEC1L;ARDC2;ARDC4;ARP5;FLJ37251;MGC19485;PBI;bK150C2.3 APOBEC1-like;DNA dC->dU-editing enzyme APOBEC-3C;OTTHUMP00000199092;phorbolin I;probable DNA dC->dU-editing enzyme APOBEC-3C APPROVED protein-coding ENSG00000244509 17353 09671 607750 REVIEWED 1342905 APOC1P1 apolipoprotein C-I pseudogene 1 19 19 q13.2 42234383 42238966 + 45430060 45434643 + 2835369;11752456;16344560;16712791;22359512 342 ABBA01040895;ABBA01040896;AC011481;AMYH01009846;AV645786;CB162526;DA636997;DA638554;EF553526;M20903;NR_028412;NR_028413;NR_028414 Hs.110675;Hs.729930 1660896;1792822 PMC164795P2;STS-M20903 DKFZp781C1677 pseudo ENSG00000214855 608 VALIDATED 1345786 APOBEC3F apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 22 22 q13.1 37766619 37781923 + 39436673 39451977 + 1580863;6480464 22451677;17145955;17142455;17020885;16767679;16699599;16648136;16501124;16460778;16344560;15647250;15489334;15461802;15152192;15054139;15031497;14702039;14565218;14557625;14557052;14528301;14528300;14527406;12970355;12859895;12809610;12808466;12808465;11863358;17121840;19487726;19169351;19088851;19036809;18619467;18603011;18367521;17977970;17609216;17522216;21396348;12683974;12477932;12167863;10591208;8889548;8570611;17038330;16940537;17067930;16641889;15296757;15141007;20592083;19535447;19561087;19587057;20153011;20219927;20335268;20702622;20844042;20592068;20624919;20686027;23097438;16527742;23536679;21897871;22013041;23318957;21279453;21573951;16014920;19109396;21044950;21139048;22315404;16378963;17303427;17428847;17459442;18067920;18262674;18304004;18448538;18541215;18577210;18604271;18806783;18846074;18976920;19008196;19038776;19149995;19344514;19535450;19649317;19669862;19826902;19837465;19939923;19944180;20012521;20096141;20174454;20299747;20538015;20610708;20943965;20971849;21741003;21835787;21994560;22203821;22205746;22286874;22379088;22647704;22695298;22720156;22807680;22855686 200316 Q8IUX4 ABBA01055546;ABBA01055547;AK294810;AL022318;AMYH01012771;BC038808;BE888653;BE892372;BG280786;BG744406;BG758984;BM681311;BQ056344;BQ182066;BQ941658;BX367450;CH471095;CR456395;CX165430;DA221480;DQ146365;JF262037;NM_001006666;NM_145298;U38435 AAH38808;AAZ38720;AEA39617;BAG57929;CAG30281;CAK54384;CAK54683;EAW60288;EAW60289;NP_001006667;NP_660341;Q8IUX4 Hs.659809 2144544;5015879;5016478;5017227;5017266;5020414;5022200;5022578;5037552;5118444 D11S3316;D1S1423;D8S2279;G18167;G38154;GDB:314949;GDB:434012;L17688;L18426;L18506 A3F;ARP8;BK150C2.4.MRNA;KA6;MGC74891 DNA dC->dU-editing enzyme APOBEC-3F;OTTHUMP00000199082;OTTHUMP00000199083;apolipoprotein B mRNA editing enzyme cytidine deaminase;apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3F;induced upon T-cell activation APPROVED protein-coding 17356 16415 608993 REVIEWED 1349849 APOBEC3G apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. The protein encoded by this gene has been found to be a specific inhibitor of human immunodeficiency virus-1 (HIV-1) infectivity. [provided by RefSeq, Jul 2008] 22 22 q13.1-q13.2 37803082 37813694 + 39473010 39483748 + 1580863;6480464 15353294;15297452;15286366;15269786;15245742;15210704;15177194;15168739;15159405;15156567;15152192;15116720;15080177;15054139;15031497;14747572;14702039;14672928;14614829;14565218;14557625;14557052;14528300;14527406;12970355;12920286;12914693;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12683974;12477932;12167863;10591208;9846577;9811770;16971427;17020885;15479826;15464836;18184715;18165230;18077705;18023836;17928335;17916373;17898068;17892323;17886715;17881443;18288108;18272764;17869248;17855362;17848567;17825339;17670826;17631688;17609216;17522216;17522211;17517765;17374143;17344295;17314171;17272283;17267497;17259974;17251560;17237417;17212712;17166910;17161027;17145955;17142455;17126871;17083721;17079235;17079095;17067930;17065315;17052331;17049578;17036163;17030807;16988524;16940537;16887808;16874860;16731938;16710452;16699599;16678488;16641889;16641260;16622407;16501124;16460778;16426578;16414984;16354571;16344560;16250885;16000409;15943885;15823539;15721369;15674295;15647250;15613310;15611076;15609224;15581898;15578976;15574592;15537645;15489334;15461802;15452227;15383144;15373943;15358144;19057663;19036809;19027180;19004939;18987139;18851679;18849968;18842592;18836454;18809921;18684817;18667511;18652534;18639915;18619467;18603011;18597676;18501607;18499212;18480459;18456846;18420796;18414671;18367521;18366335;18362149;18326044;18308358;11863358;17121840;12859895;14528301;14564014;15098018;15479846;15781449;18029348;19487726;19389408;19371434;19345973;19343218;19324886;19304304;19300495;19297501;19266078;19254362;19216784;19197360;19169351;19153609;19136562;21396348;14999100;14978281;14966139;17023652;16631224;16303161;16418394;15215254;16169070;22791714;15574593;17135358;19088851;22369580;22379088;22809226;22645179;22362763;20668529;20523896;20592083;20636339;20338830;20128960;18647522;17064466;20610708;20510315;20463074;20463080;17440614;17849022;18843993;19497112;19535442;19535447;19535450;19561087;19585516;19587057;19649317;19776130;19886996;19887642;19910370;19996938;20023216;20038599;20104108;20147392;20152150;20153011;20212048;20219927;20335268;20363737;20844042;20833716;21832049;21300806;19560422;21078663;16527742;21489586;21698207;20874421;21228271;21480314;21217078;21123176;23097438;23300442;20642434;21763507;22828015;22999946;21737457;21571098;23432984;22807680;21752914;23138837;23152537;21239176;21659520;21071676;21784078;21279453;21573951;22339232;21897871;21856286;21874023;21985787;16571802;22272271;22301159;22346743;21182427;22013041;21935481;22190037;23318957;23536679;23576497;23596292;22894923;18680593;21890473;22205746;22315404;22579353;16530799;19109396;23271983;23316055;23128233;23411593;23555255;16378963;16822376;17291161;17303427;17331040;17338854;17428847;17459442;17586316;17727729;17824250;17869271;17942420;17959647;18036235;18262674;18298807;18304004;18338854;18391217;18414697;18448538;18495196;18541215;18572219;18577210;18604271;18675436;18789977;18806783;18819469;18827027;18846074;18971252;18976462;18976920;19004943;19008196;19020832;19038776;19050398;19128510;19149577;19149995;19211937;19344514;19357165;19401538;19494012;19669862;19694548;19717177;19826902;19837465;19841153;19939923;19944180;20012521;20012529;20015971;20018238;20096141;20174454;20219919;20299747;20463065;20538015;20571604;2059206;20624919;20638642;20668078;20939174;21147461;21147467;21149631;21152581;21345952;21370050;21393191;21734563;21741003;21934670;21972557;22017399;22190036;22203821;22218868;22274659;22347227;22509177;22553496;22555953;22647704;22695298;22725134;22728817;22787460;22855686;22970171;22152111 60489 Q05JX5;Q9HC16 AB266487;ABBA01055548;AF182420;AK022802;AK092614;AK093635;AK310279;AK315650;AL022318;AL078641;AMYH01012771;BC009683;BC024268;BC061914;CH471095;CR456472;DA457434;DQ147772;JF262036;KC329531;NM_021822 AAG14956;AAH24268;AAH61914;AAZ38722;AEA39616;AGI04219;BAF34652;BAG38016;CAG30358;CAK54453;CAK54752;EAW60292;NP_068594;Q9HC16 Hs.660143 1729197;5020988;5022578;5037552;5122683 D1S1423;D1S2481;D22S958;D8S2279;UniSTS:146584 A3G;ARCD;ARP-9;ARP9;CEM-15;CEM15;FLJ12740;MDS019;bK150C2.7;dJ494G10.1 APOBEC-related cytidine deaminase;APOBEC-related protein 9;DNA dC->dU editing enzyme;DNA dC->dU-editing enzyme APOBEC-3G;OTTHUMP00000199084;apolipoprotein B editing enzyme catalytic polypeptide-like 3G;apolipoprotein B mRNA editing enzyme cytidine deaminase;deoxycytidine deaminase;phorbolin-like protein MDS019 APPROVED protein-coding ENSG00000239713 17357 06172 607113 REVIEWED 1607021 APOBR apolipoprotein B receptor Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. [provided by RefSeq, Jul 2008] 16 16 16 p11 27693485 27697774 - 28413494 28417783 + 28505970 28510291 + 6480464 10852956;15830122;15591219;12477932;21367954;22190030 55911 Q0VD83 ABBA01043652;AC138894;AF141332;AF141333;AF141334;AK025123;AK075085;AMYH01007433;BC119786;BC119788;CH471279;NM_018690 AAF76255;AAF76256;AAF78765;AAI19787;AAI19789;EAW52278;EAW52279;EAW52280;NP_061160;Q0VD83 Hs.200333 1743451 GDB:335745 APOB100R;APOB48R apoB-48R;apolipoprotein B receptor;apolipoprotein B-100 receptor;apolipoprotein B-48 receptor;apolipoprotein B100 receptor;apolipoprotein B48 receptor APPROVED protein-coding ENSG00000184730 24087 05561 605220 REVIEWED 1606067 APOBEC4 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) This gene encodes a member of the AID/APOBEC family of polynucleotide (deoxy)cytidine deaminases, which convert cytidine to uridine. Other AID/APOBEC family members are involved in mRNA editing, somatic hypermutation and recombination of immunoglobulin genes, and innate immunity to retroviral infection. [provided by RefSeq, Jul 2008] 1 1 1 q25.3 156726442 156733480 - 181882033 181889071 - 183615410 183622448 - 6480464 16710414;16082223;15489334;14702039;12477932;19911124;22318606;23273568 403314 Q8WW27 ABBA01027746;AI961390;AK098557;AL137800;AMYH01001553;BC021711;CH471067;NM_203454 AAH21711;ADZ15918;BAC05332;EAW91169;NP_982279;Q8WW27 Hs.97335 C1orf169;MGC26594 OTTHUMP00000033512;apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 4;putative C->U-editing enzyme APOBEC-4 APPROVED protein-coding ENSG00000173627 32152 17522 609908 REVIEWED 1342697 APOEL1 apolipoprotein E-like 1 1505951 349 614 735472 APOC1 apolipoprotein C-I The protein encoded by this gene is a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 19 19 q13.2 50109761 50114446 + 45417921 45422606 + 1578472;1578471;1580863;1578426;2313951;2313950;2313953;2313948;2325793;6480464 11825674;10073946;11714102;11723061;12753304;3757210;17310220;15876873 17339654;2302419;18992221;11162594;4020294;10978346;15576844;1917954;11256614;19336575;19336475;19252179;19062221;19060906;19014618;18976728;18802019;18667498;18262040;18193044;18193043;18160739;18049452;18037960;17936795;17761674;17667986;17341095;17254710;17053273;16981907;16935938;16763159;16631424;16608402;16544732;16478678;16459141;16381901;16159884;15900219;15840864;15793777;15777558;15769335;15767578;15489336;15489334;15364690;15339254;15077570;14746139;14705977;14523051;12962909;12860251;12736801;12705839;12678662;12477932;12429068;12220441;12113906;12044170;12032151;11702052;11076863;10520737;10391210;9300485;8804993;8432525;8125298;7779782;7471419;6789904;6328444;4369340;3017837;3013172;2985493;2897845;2835369;166984;11991719;21196492;21740922;17998437;182536;18984910;19197348;19368908;19417222;19494537;19567438;19761869;19785722;19808960;19812053;19913121;19936222;20145290;20308432;20331378;20339536;20430392;20498921;20571754;20580041;20628086;17463246;17474819;17975299;20442857;20691829;20714348;20864672;20880607;20972250;21187063;21300955;21103663;21267442;18835943;22995522;22264166;21943158;22832961;21533863;21900206;22022282;22474067;20686565;21909108;22003152;22005931;22054870;22286219;22404376;15174051;23031429;23118302;23419831;23455636;22710912 341 B2R526;K7EJI9;K7EKP1;K7ELM9;K7ELU7;K7EPF9;K7EPR9;K7ERI9;P02654 ABBA01040892;ABBA01040893;ABBA01040894;AC011481;AF050154;AI310334;AI885116;AK225971;AK312036;AMYH01009846;AY422954;BC009698;BC055093;BT007142;CH471126;CR456907;FJ525874;M20843;M20902;M27359;NG_012859;NM_001645;X00570 AAA51762;AAA51763;AAA88018;AAD02506;AAH09698;AAH55093;AAP35806;AAQ91813;ACN81312;ACT64518;ACT64519;BAG34973;CAA25235;CAG33188;CAL37605;EAW57307;EAW57308;NP_001636;P02654 Hs.110675 1792822 PMC164795P2 apo-CIB;apoC-IB;apolipoprotein C-I;apolipoprotein C1 1643251 BW139_H APPROVED protein-coding ENSG00000130208 607 00131 107710 REVIEWED 1352001 APOC2 apolipoprotein C-II This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011] 19 19 q13.2 50141083 50144658 + 45449239 45452822 + 1599175;1358408;1358409;1601191;1601207;1601205;1601212;1601206;1601208;1580863;1578471;1601204;1601214;2313970;2313973;2313966;2313953;2313968;6480464;7240710 1782747;10335523;12450397;9002300;8490626;7590197;2242096;7923858;1468157;10073946;16153625;3944267;8366982;2352345;12733353;3757210;8139482 10727238;8245722;11162594;4020294;15778093;1917954;15878877;4345202;14718574;17336988;16682745;19336475;19336370;19060906;19034041;19014618;18852267;18802019;18660489;18206908;18193044;18005990;17855807;17717288;182536;8323539;8112221;7815420;6706938;6593704;6546757;6328478;6328445;3944271;3680515;3558370;3525527;3474626;3467353;3263393;3192518;3030808;3014272;2477392;2415514;2209608;1971748;1555583;194244;17429947;17174330;17018885;16763159;16459141;16432277;15489334;15031287;14746139;12783430;12782148;12682050;12590574;12477932;12220441;12032151;11930616;11752456;11751863;11579204;11310852;10391210;17222387;16968945;19197348;19534808;19878569;19913121;19948975;20031551;20042600;20331378;20430392;20498921;21321243;20571754;20628086;20634891;20714348;20864672;20972250;21146539;8530039;21476595;21943158;21985034;15174051;22244853;20686565;22286219;22239554;22808166 344 P02655;Q6P163 AA883870;ABBA01040898;AC011481;AF113884;AMYH01009847;AV694494;AY422955;BC005348;BC065270;BT006708;BU596546;CH471126;FJ525875;J02698;M10612;M29844;NG_008837;NM_000483;X00568;X05151 AAA51743;AAA98743;AAB59380;AAD28193;AAH05348;AAH65270;AAP35354;AAQ91814;ACE87064;ACE87745;ACN81313;CAA25234;CAA28798;EAW57311;EAW57312;EAW57313;NP_000474;P02655 Hs.75615 1677400;1740885;1740893;1741251;1741607;2127069;2166636;2175931;2217020 APOC2_2725;GDB:171122;GDB:171136;GDB:179875;GDB:181560;RH18398;RH36305;RH46551;RH91449 APO-CII;APOC-II;MGC75082 apo-CII;apoC-II;apolipoprotein C-II;apolipoprotein C2 1643251 BW139_H APPROVED protein-coding ENSG00000224916 609 07457 207750;608083 REVIEWED 737569 APOC3 apolipoprotein C-III Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits lipoprotein lipase and hepatic lipase; it is thought to delay catabolism of triglyceride-rich particles. The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes. The A-I and A-IV genes are transcribed from the same strand, while the A-1 and C-III genes are convergently transcribed. An increase in apoC-III levels induces the development of hypertriglyceridemia. [provided by RefSeq, Jul 2008] 11 11 q23.3 116205834 116208997 + 116700624 116703787 + 1578443;1331525;1601191;1601223;1601226;1601224;1599190;1580863;1578471;1578441;1578447;1578444;1601225;1578442;1626412;2313970;2313973;2306767;2306754;2306768;2306771;2306765;2306755;2306766;2313968;2313972;5685674;6480464;5685676;7207220;7240710;7207208;7207209;7207210;7207211;7207212;7207205;7207207 14709372;15118671;9002300;17416293;15734841;16321685;8429259;10073946;11959336;2879788;7705829;15863838;10428310;15059615;8366982;2352345;15715433;17654446;15642486;18805913;16505251;16813599;16298371;8139482;1579407;9062353;9812922;22160518;21613792;21297177;20797315;17957542;10822722;21670290;21829457 18188530;18187430;18179892;18096054;18034366;18020971;17996965;17964293;17919884;17885207;17855807;17853951;17825930;17726453;17700364;17672999;17615573;17457002;17378725;17367769;17342071;17318300;17314277;17283453;17261136;17197160;17142127;17038637;17032446;17020471;17016614;16973241;16935699;16917759;16864937;16861622;16781717;16769999;16763159;16710093;16705465;11162594;11060345;182536;3973011;15576844;18635818;9254056;4066713;16443932;18767813;4020294;15778093;17438339;1917954;18399797;4345202;17336988;19501493;19479237;19424489;19403283;19336475;19336370;19322776;19263529;16702309;16682041;16602826;16495512;16430904;16417409;16410456;16343038;16326171;16276364;16205020;16192625;16136540;16030523;16015281;15983323;15962178;15949705;15924804;15910632;15868628;15864534;15862889;15823278;15809899;15764642;15657615;15649902;15598690;15585206;15576429;15549499;15542401;15489334;15488874;15375785;15364160;15304365;15292332;15175273;15161788;15151505;15124908;15117734;15108119;15076187;15039125;15019539;14718574;14650351;14612212;14569462;14563827;14517726;12964943;12962772;12782148;12754559;12732844;12697301;12692252;12691171;12676816;12600077;12588953;12556235;12514935;12477932;12417525;12401896;12235176;12189450;12176399;12118856;12116231;12082592;12082170;12052247;12048138;12048121;11903304;11893778;11840804;11839757;11837227;11740190;11737222;11714857;11605014;11575217;11572515;11533368;11512679;11500189;11472750;11443500;11427182;11359462;11341749;11284423;11282888;11270684;11193221;11181747;11171287;11152845;11126401;11116069;10870325;8099442;6548954;6439535;6404278;6328445;6308458;19207029;19166692;19131662;19074352;19060911;19060906;19057464;19056482;19034316;19000312;18823627;18801202;18789138;18753860;18678879;18660489;18566295;18560672;18556566;18541587;18513389;18509206;18408013;18289550;18274205;18240956;18206649;18193044;18193043;4846755;3949020;3935800;3931677;3931073;3123586;3095836;2989400;2022742;20071361;20097930;21183731;16968945;17154273;19502413;19534808;19578796;19592705;19622837;19656773;19689828;19701693;19732897;19785722;19878569;19910636;19913121;19932084;19948975;20031551;20331378;20335584;20368524;20452482;20517165;8245722;21274868;20864672;20303494;20727869;20536507;20602615;20628086;20673868;20674306;20716347;20002542;20714348;20855565;21033077;21499891;21378990;21080234;21267442;21185820;21646779;21676879;21373834;21421846;22004016;22675253;19850743;21939545;21767760;21986282;21663607;21854571;22023023;21829161;22141340;23505323;22301884;21603779;18835943;15174051;21103663;21988832;22848358;21777557;20686565;21909109;22211242;22286219;22054125;22197810;22101237;21321243;23173569;22916037 345 A3KPE2;B0YIW2;C9J2Q0;P02656 ABBA01039746;AMYH01004055;AP006216;AY422951;AY555191;BC027977;BC121081;BC134419;CH471065;CQ924609;EF444950;J00098;M28613;M28614;M33043;NG_008949;NM_000040;V01513;X00567;X01388;X01392;X03120 AAA51760;AAA51761;AAB59372;AAB59515;AAH27977;AAI21082;AAI34420;AAQ91810;AAS68230;ABM82970;ABM86164;ACA05940;ACA05941;ACA05942;CAA24757;CAA25233;CAA25644;CAA25648;CAA26895;CAI23899;EAW67272;EAW67273;NP_000031;P02656 Hs.73849 1669174;1669176;1695008;1740967;1741177;1741341;1745789;1806236;1808162;1824550;1825184;1840054;1842180;1845252;1849414;2004090;2004092;2004094;2004096;2004098;2004100;2004102;2004104;2004106;2004108;2004110;2004112;2004114;2004116;2004118;2004120;2004122;2004124;2004126;2004128;2096972;2096974;2096976;2107843;2147419 APOC3;APOC3_7748;D11S4370;D11S4435;ECD04073;ECD05062;ECD13373;ECD13693;ECD21211;ECD22293;ECD23843;G44717;GDB:176981;GDB:178433;GDB:180740;GDB:636456;REN72957;REN72958;REN72959;REN72960;REN72961;REN72962;REN72963;REN72964;REN72965;REN72966;REN72967;REN72968;REN72969;REN72970;REN72971;REN72972;REN72973;REN72974;REN72975;REN72976;RH66448;stSG601810;stSG601811;stSG601812 APOCIII;HALP2;MGC150353 OTTHUMP00000043270;OTTHUMP00000069353;apo-CIII;apoC-III;apolipoprotein C-III;apolipoprotein C3 APPROVED protein-coding ENSG00000110245 610 00132 107720;614028 REVIEWED 736043 APOC4 apolipoprotein C-IV This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is thought to play a role in lipid metabolism. Polymorphisms in this gene may influence circulating lipid levels and may be associated with coronary artery disease risk. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring downstream apolipoprotein C-II (APOC2) gene. [provided by RefSeq, Mar 2011] 19 19 q13.2 50137335 50140591 + 45445495 45448753 + 1580863;6480464 8530039;18809223;8827523;12700345;17154273;19336475;19060906;18802019;18193044;18193043;16763159;16335952;15489334;12477932;12032151;10996355;8910501;19197348;19913121;20331378;20430392;20498921;20571754;20602615;20628086;20714348;20855565;20864672;20972250;11752456;16344560;21103663;21943158 346 K7EMC3;P55056 ABBA01040897;ABBA01040898;AC011481;AMYH01009847;AV690709;AY422953;BC020723;CH471126;DB185657;EF371378;HC250943;HC311132;NG_008837;NM_001646;U32576 AAA91653;AAH20723;AAQ91812;ABQ40075;CBJ05769;CBJ21221;EAW57310;NP_001637;P55056 Hs.731599 2127069;2166636 RH18398;RH46551 APO-CIV;APOC-IV apo-CIV;apoC-IV;apolipoprotein C-IV;apolipoprotein C4 1643251 BW139_H APPROVED protein-coding ENSG00000224916;ENSG00000267467 611 02848 600745 REVIEWED 737460 APOD apolipoprotein D This gene encodes a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It has a high degree of homology to plasma retinol-binding protein and other members of the alpha 2 microglobulin protein superfamily of carrier proteins, also known as lipocalins. This glycoprotein is closely associated with the enzyme lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism. [provided by RefSeq, Aug 2008] 3 3 q26.2-qter 196776865 196792278 - 195295573 195311076 - 1580863;2311203;2311202;2311209;2311178;2311179;2311196;2311182;2311177;2311180;6480464 10372566;10501208;9751198;7895459;7913935;11444882;17851453;15369805;6828336 3453108;7918467;14718574;19519777;19176353;18979643;18977241;18842892;18671953;18458334;18419796;18330697;17885669;17601350;16966838;16437381;16402085;16344560;16335952;15916898;15489334;15316799;15192024;14760718;14596852;14551159;14500696;12873803;12837283;12497622;12477932;12363390;12052480;11744388;11344130;11058760;10391209;8889548;8692868;8549691;7613477;6774335;2891117;2439269;2244881;2083249;16169070;17353931;21182205;15862967;21145461;21319273;19330472;19723339;19878569;19944460;20430392;20493910;19913121;20628086;20855565;21705670;21526344;9278274;21429623;21628590;3104518;22479522 347 C9JF17;C9JX71;F8WBT9;P05090 ABBA01001604;AC069213;AK294523;AK312090;AMYH01013786;BC007402;BQ008672;BT019860;BT019861;BU195270;BU727194;CH471052;CR456838;CR541773;DA892855;J02611;M16648;M16649;M16695;M16696;NM_001647;S80440 AAA51764;AAB35919;AAB59517;AAH07402;AAV38663;AAV38664;ABM83594;ABM87123;BAG35026;BAG57734;CAG33119;CAG46572;EAW78023;EAW78024;NP_001638;P05090 Hs.522555 1337811;1741421;1858414;2131129;2135362;2151167;7186881;7187888;7187893 D3S1305;GDB:181196;RH69430;STS-J02611;STS-W81076;WI-18936 OTTHUMP00000208785;OTTHUMP00000208787;OTTHUMP00000208788;apo-D;apolipoprotein D 1643508 BW262_H APPROVED protein-coding ENSG00000189058 612 00134 107740 REVIEWED 1344329 APOF apolipoprotein F The product of this gene is one of the minor apolipoproteins found in plasma. This protein forms complexes with lipoproteins and may be involved in transport and/or esterification of cholesterol. [provided by RefSeq, Jul 2008] 12 12 q13.3 55040622 55042850 - 56754355 56756583 - 1580863;6480464 6816269;8093033;14718574;18369235;17901467;15489334;15172102;12907677;12477932;9880564;204339;19878569;20331378;20602615;17207965;20691829;20855565;21937674 319 F5GXS5;Q13790 ABBA01008424;AC025574;AK314892;AMYH01004504;BC026257;CH471054;CR936663;L27050;NM_001638 AAA65642;AAH26257;ADQ32134;BAG37406;EAW96938;NP_001629;Q13790 Hs.534302 1660175 STS-L27050 Apo-F;DKFZp781G18150;LTIP;MGC22520 OTTHUMP00000244253;apolipoprotein F;lipid transfer inhibitor protein APPROVED protein-coding ENSG00000175336 615 00137 107760 REVIEWED 1347333 APOL5 apolipoprotein L, 5 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008] 22 22 q12.3 34443865 34455476 + 36113919 36125530 + 1580863;6480464 11374903;17474147;10591208;20602615;20691427 80831 Q9BWW9 ABBA01055424;AL049748;AMYH01012747;AY014878;NM_030642 AAI56796;AAK07723;NP_085145;Q9BWW9 Hs.326561 APOL-V;APOLV OTTHUMP00000197877;apolipoprotein L-V;apolipoprotein L5 APPROVED protein-coding ENSG00000128313 14869 06265 607255 REVIEWED 1321637 APOH apolipoprotein H (beta-2-glycoprotein I) Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections. [provided by RefSeq, Jul 2008] 17 17 q24.2 61638609 61656018 - 64208147 64225556 - 1578489;1580863;2313984;2313985;2313986;2313988;2313989;2313990;2313992;2313982;2313983;2313991;6480464 15507263;16126948;15322656;14595478;11795690;11302005;9472678;6613192;18695102;17626983;9377806 16480936;9269765;7417307;15486070;4052628;17872974;14726399;15534879;7078428;222615;18029348;19275896;19248095;19132787;19069167;19052923;19002041;18996102;18777117;18676959;18521522;18495556;18452581;18383370;18328538;18205270;18093092;18073216;18034767;17726161;17715943;17662972;17603016;17469158;17200780;17096706;17057945;17053060;16960938;16905548;16879209;16855163;16740002;16724168;16686261;16625500;16603439;16335952;16199891;16159595;15956288;15916797;15821830;15653437;15641049;15522884;15507264;15489334;15488942;15252864;15094940;15084671;15025925;14768953;14760718;14719180;14718574;14707422;14644075;14601646;12970918;12918732;12887738;12807892;12673579;12648080;12605674;12590955;12571857;12562869;12495081;12495080;12477932;12471146;12441378;12440522;12428105;12371681;12362233;12235181;12139935;12124280;12038453;12031135;11953211;11816715;11686326;11434778;10809787;10562535;10508150;9914524;9727058;9596664;9352386;9225969;9155091;9063752;8989432;8460120;8139027;8099061;6587378;6403535;3361230;2349221;1777418;1748314;1655523;1650181;1602135;1582254;1426288;1339416;16038107;22246055;22635228;22635233;16938165;18029906;19350132;19578796;19676115;19694946;19706343;19706887;19715922;19758193;19805618;19851667;19878946;19965629;20004024;20026018;20029801;20089041;20237496;9058203;20874780;20581778;20204408;20539917;20440842;19913121;20601596;20602615;20628086;20140737;20665665;20629942;20979592;21498672;22940059;21602492;21899894;23214196;21454452;21478209;21618459;22964479;18624398;21501325;22399073;22056596;23692565;22427365;21240499;21535391;21999151;22956423;23279374;22394675 350 J3KS17;J3QLI0;J3QRN2;P02749 ABBA01029032;ABBA01029033;ABBA01029034;AC006120;AK298416;AK313838;AMYH01008577;AY322156;BC020703;BC026283;BG566874;BM005736;CH471099;HM212425;M62839;NG_012045;NM_000042;S80305;X53595;X57847;X58100;Y11493;Y17754 AAA51766;AAB21330;AAH20703;AAH26283;AAP72014;ABM82288;ABM85468;ADJ96598;BAG36570;BAG60642;CAA37664;CAA40977;CAA41113;CAA72279;CAA76845;EAW89012;EAW89013;NP_000033;P02749 Hs.445358 1659327;1668814;1742779;2125541;5111925 G43003;GDB:206667;RH11628;RH47133;RH66220 B2G1;B2GP1;BG APC inhibitor;B2GPI;activated protein C-binding protein;anticardiolipin cofactor;apo-H;beta(2)GPI;beta-2-glycoprotein 1 APPROVED protein-coding ENSG00000091583 616 00728 138700 REVIEWED 1348736 APOL1 apolipoprotein L, 1 This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 22 22 q13.1 34979070 34993523 + 36649117 36663577 + 1580863;6480464;6907045;7240710 16020735;12621437;17192540;19324878;19239905;18927493;18850207;18632255;18505729;17845074;17360487;16344560;16335952;15949655;15604524;15500911;15489334;14718574;12837283;12477932;11944986;11374903;11290834;10946010;10591208;9325276;20647424;17154273;20483474;20635188;19913121;20602615;20628086;20668430;20855565;21080072;22695330;21997392;21997394;21997396;21997397;21997398;21537348;22691369;21698141;21486385;21968148;20805508;21910715;21931123;22569246;22119407;22135313;22357707;22239288;22495294;22878977;23300552;23520206;22832513;23107266;23082501 8542 B1AH94;B1AH95;B1AH96;F8WB77;F8WCH3;G8JL88;Q2KHQ6;Q96PM4 ABBA01055436;ABBA01055437;AF019225;AF305224;AF305428;AF323540;AF323548;AK296099;AK298053;AK300454;AK303919;AK309143;AK313752;AMYH01012749;BC017331;BC112943;BC113867;BC114475;BC127186;BC141823;BC142720;BC143038;BC143039;BG419709;CH471095;DA375861;DC340792;DC367266;NG_023228;NM_001136540;NM_001136541;NM_003661;NM_145343;Z82215 AAB81218;AAG53690;AAI12944;AAI13868;AAI14476;AAI27187;AAI41824;AAI42721;AAI43039;AAI43040;AAK11591;AAK20210;AAL09358;BAG36492;BAG58852;BAG60347;BAG62174;BAG64847;EAW60090;EAW60091;EAW60092;EAW60093;EAW60094;NP_001130012;NP_001130013;NP_003652;NP_663318;O14791 Hs.114309 1677500;1729195;1733232;1733244;1795368;1846818;2130419;5014051;5016700;5021872;5022200;5022578;5037552;5109281 APOL2_299.2;D1S1423;D1S1425;D22S541;D22S549;D22S550;D22S592;D8S2278;D8S2279;L18426;RH79802;RH80142;UniSTS:146582;sY3084 APO-L;APOL;APOL-I;FSGS4 OTTHUMP00000028705;OTTHUMP00000197952;OTTHUMP00000197984;OTTHUMP00000197985;OTTHUMP00000197986;OTTHUMP00000197987;OTTHUMP00000198062;apolipoprotein L-I;apolipoprotein L1 2314778 GLUCO97_H APPROVED protein-coding ENSG00000100342 618 04774 603743;612551 REVIEWED 736378 APOE apolipoprotein E Chylomicron remnants and very low density lipoprotein (VLDL) remnants are rapidly removed from the circulation by receptor-mediated endocytosis in the liver. Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells. ApoE is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. The APOE gene is mapped to chromosome 19 in a cluster with APOC1 and APOC2. Defects in apolipoprotein E result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. 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348 E7ERP7;E9PEV4;H0Y7L5;P02649 AB035149;ABBA01040892;AC011481;AF050154;AF261279;AK314898;AMYH01009845;AMYH01009846;AY077451;BC003557;BU848796;CH471126;FJ525876;K00396;M10065;M12529;NG_007084;NM_000041;X00199;X92000;Z70760 AAB59397;AAB59518;AAB59546;AAD02505;AAG27089;AAH03557;AAL82810;ABM83474;ABM86685;ACN81314;BAA96080;BAG37412;CAA25017;CAA63051;CAA94806;EAW57306;NP_000032;P02649 Hs.654439 1341236;1658651;1740879;1740895;1741019;1741151;1741655;1741669;1742423;1744161;1744223;1791614;1794296;1794298;1794300;1794302;1795160;2131438;2176691 D19S571;GDB:169570;GDB:171177;GDB:177380;GDB:178385;GDB:181631;GDB:181693;GDB:196979;GDB:433407;GDB:438097;PMC117303P1;PMC310963P1;PMC310963P2;PMC310963P3;PMC310963P4;PMC99927P2;RH11470;STS-K00396;STS-N29699 AD2;LDLCQ5;LPG;MGC1571 OTTHUMP00000159143;OTTHUMP00000197075;OTTHUMP00000197076;OTTHUMP00000197077;apo-E;apolipoprotein E;apolipoprotein E3 1643251 BW139_H APPROVED protein-coding ENSG00000130203 613 00135 104310;107741;269600;603075;611771 REVIEWED 1343358 APOL4 apolipoprotein L, 4 The protein encoded by this gene is a member of the apolipoprotein L family and may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Two transcript variants encoding two different isoforms have been found for this gene. Only one of the isoforms appears to be a secreted protein. [provided by RefSeq, Jul 2008] 22 22 22 q11.2-q13.2 20387749 20403452 - 34915122 34930825 - 36585176 36600879 - 1580863;6480464;7240710 11944986;18632255;15949655;15461802;12477932;11374903;11290834;8125298 80832 B1AHI7;B1AHI8;B1AHJ0;B1AHJ2;B1AHJ3;E9PS31;F5H1P9;J3KNR9;Q9BPW4;Q9BRG6 ABBA01055436;AF305226;AK225696;AK290466;AK290777;AK311506;AK312716;AK313637;AMYH01012749;AY014913;AY014914;AY014915;BC004150;BC006276;BC010131;BC017313;CH471095;CR456380;NG_023437;NM_030643;NM_145660;Z95114 AAG50350;AAG50351;AAG50352;AAG50353;AAH06276;AAI56832;AAK20212;ACE86467;ACE87148;BAF83155;BAF83466;BAG35591;CAG30266;CAK54369;CAK54668;EAW60084;EAW60085;EAW60086;NP_085146;NP_663693;Q9BPW4 Hs.115099 1689763;1795372;5108114;5124355 APOL4_713;DXS429;RH80419;RH91879 APOL-IV;APOLIV OTTHUMP00000198064;OTTHUMP00000198065;OTTHUMP00000198067;OTTHUMP00000198068;OTTHUMP00000198069;OTTHUMP00000232518;apolipoprotein L-IV;apolipoprotein L4 2314778 GLUCO97_H APPROVED protein-coding 14867 16237 181500;607254 REVIEWED 1315120 APOL3 apolipoprotein L, 3 This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 6. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] 22 22 22 q13.1 20338943 20364799 - 34866323 34892171 - 36536371 36562225 - 1580863;6480464 10233894;12761501;16806233;16344560;15461802;12477932;11944986;11930015;11374903;11290834;10591208;20602615;20631155;20237496;20379614 80833 F2Z2M3;H0YCT0;H0YD32;H0YDH5;H0YDW3;H0YEJ6;H0YEQ0;H7BYQ5;O95236 ABBA01055436;AF070675;AF305227;AF324238;AK025349;AMYH01012749;AY014902;AY014903;AY014904;AY014905;AY014906;AY014907;BC038352;BC042918;BC050596;BF797347;CH471095;CR456379;DA878288;NM_145640;NM_145641;NM_145642;NR_027833;NR_027834;NR_027835;Z95114 AAC83233;AAG50344;AAG50345;AAG50346;AAG50347;AAG50348;AAG50349;AAH42918;AAH50596;AAK20213;AAK26527;AAK26528;AAK26529;CAG30265;CAK54368;CAK54667;EAW60080;EAW60081;EAW60082;EAW60083;NP_663615;NP_663616;NP_663617;O95236 Hs.474737 1653343;1692226;1795370 A008R30;AL033769;APOL3_301 APOLIII;CG121 CG12_1;OTTHUMP00000198071;OTTHUMP00000198072;OTTHUMP00000198073;TNF-inducible protein CG12-1;apoL-III;apolipoprotein L-III;apolipoprotein L3 APPROVED protein-coding ENSG00000128284 14868 06264 607253 REVIEWED 7246228 APOOP1 apolipoprotein O pseudogene 1 100286948 ABBA01044278;AC008491;AMYH01015740;NG_029196 pseudo 48739 INFERRED 7246281 APOOP2 apolipoprotein O pseudogene 2 100129005 ABBA01004630;AC116546;AMYH01013324;NG_012899 pseudo 48740 INFERRED 7246214 APOOP3 apolipoprotein O pseudogene 3 100131528 ABBA01026592;AC026124;AMYH01004551;NG_012898 pseudo 48741 INFERRED 1320008 APOL2 apolipoprotein L, 2 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q12 20424825 20438568 - 34952201 34965946 - 36622255 36636000 - 1580863;6480464;7240710 11374903;11944986;18632255;15949655;15489334;14702039;12477932;11290834;10591208;7566098;20602615;15107424;20665705;21987572;21906983;22505724 23780 B0QYK8;E9PM95;J3KQL8;Q9UH10 AB208990;ABBA01055436;AF305225;AF305429;AF324223;AF324224;AF324230;AK056938;AK303978;AL031426;AMYH01012749;BC004395;CH471095;NG_023229;NM_030882;NM_145637;Z82215;Z95114 AAH04395;AAK11592;AAK11593;AAK11598;AAK20211;AAL09359;ABM84357;ABM87743;BAB71315;BAD92227;BAG64897;EAW60087;EAW60088;EAW60089;NP_112092;NP_663612;Q9BQE5 Hs.474740 1338963;1677500;1733244;1795368;1795370;1858345;2130419;2159350 AL021679;APOL2_299.2;APOL3_301;D22S1173;D22S541;D22S592;D22S924;RH80142 APOL-II;APOL3 OTTHUMP00000198078;OTTHUMP00000198079;OTTHUMP00000198080;OTTHUMP00000235928;apolipoprotein L-II;apolipoprotein L2 APPROVED protein-coding ENSG00000128335 619 06263 181500;607252 REVIEWED 7246620 APOOP4 apolipoprotein O pseudogene 4 9847074 100128725 ABBA01022909;AC074378;AC098799;AMYH01014255;NG_012897 pseudo 48742 INFERRED 7246270 APOOP5 apolipoprotein O pseudogene 5 23251661 644649 ABBA01025325;AC026457;AI016649;AMYH01007722;BX108667;NR_028471 Hs.250392;Hs.729577 pseudo 48743 PROVISIONAL 1604585 APOLD1 apolipoprotein L domain containing 1 APOLD1 is an endothelial cell early response protein that may play a role in regulation of endothelial cell signaling and vascular function (Regard et al., 2004 [PubMed 15102925]).[supplied by OMIM, Dec 2008] 12 12 12 p13.1 18027373 18093110 + 12829882 12835664 + 12878851 12944400 + 6480464 12477932;16381901;16344560;15489336;15489334;15102925;14702039;11230166;11076863;8125298;19913121;20628086 81575 A0AVN6;Q96LR9 ABBA01067848;ABBA01067849;ABBA01067850;ABBA01067851;AC007215;AC008115;AK024963;AK225176;AK314392;AL136783;AMYH01004292;BC042478;BC126433;BC126435;CH471094;DA405367;DC413327;NM_001130415;NM_030817 AAH42478;AAI26434;AAI26436;BAG37017;CAB66717;CAL38261;EAW96278;EAW96279;NP_001123887;NP_110444;Q96LR9 Hs.23388;Hs.719938 1697084;1733594;2117357;2124779;5037552 BCD2161;D12S927;D8S2279;RH102024;SHGC-32548 DKFZp434F0318;FLJ25138;FLJ95166;VERGE OTTHUMP00000204109;OTTHUMP00000204110;apolipoprotein L domain-containing protein 1;vascular early response gene protein APPROVED protein-coding ENSG00000178878 25268 13153 612456 VALIDATED 1353798 APOL6 apolipoprotein L, 6 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008] 22 22 22 q12.3 19847673 19867704 + 34374370 34394402 + 36044424 36064456 + 1580863;6480464 11374903;19299565;18571626;15671246;15489334;15461802;14702039;12975309;12477932;10591208;9828130;8889548;21646352;22505724;22632162 80830 B3KTP4;Q9BWW8 ABBA01055424;AJ227900;AK074645;AK095881;AK097266;AL049747;AL834420;AMYH01012745;AY014879;AY358210;BC038950;BC047864;BM023524;BM982940;BU585026;CH471095;CR456381;FJ177991;NM_030641;Z79996 AAH38950;AAH47864;AAK07724;AAQ88577;ACN51253;BAC11109;BAG53156;CAG30267;CAH56356;CAK54370;CAK54669;EAW60069;NP_085144;Q9BWW8 Hs.257352 1674363;1735048;1795374;5022450 APOL6_715;D10S275;D22S977E;WI-19821 APOL-VI;APOLVI;DKFZp667M075;FLJ38562;FLJ90164;MGC57495 OTTHUMP00000197934;apolipoprotein L-VI;apolipoprotein L6 APPROVED protein-coding 14870 06266 607256 REVIEWED 1351807 APOM apolipoprotein M The protein encoded by this gene is an apolipoprotein and member of the lipocalin protein family. It is found associated with high density lipoproteins and to a lesser extent with low density lipoproteins and triglyceride-rich lipoproteins. The encoded protein is secreted through the plasma membrane but remains membrane-bound, where it is involved in lipid transport. Alternate splicing results in both coding and non-coding variants of this gene. [provided by RefSeq, Jan 2012] 6 6 p21.33 31731650 31733966 + 31620187 31625987 + 1580863;2314236;2314238;2314241;2314248;2314249;6480464 19539616;17674965;16516154 17154273;19100249;19733574;19767535;19836008;19932694;19932739;16682745;15793583;18006500;10531326;19200746;19007767;18835879;18652652;18490703;18460466;18381283;18338076;18279674;18054359;17977826;17973931;17557255;17525477;17112825;17022639;16572495;16335952;15904876;15542348;15489334;15172102;15147633;14656967;14633861;14574404;12666989;12477932;11944906;11418126;8812450;16169070;21454713;20080084;21122852;19913121;20602615;20628086;20846402;20660599;17207965;20828695;19796793;20872094;21606363;21390319;22826357;22877565;21875437;15146197;22204862;21844665;21944699;22516753;23190940;18978787;19654303;23086303 55937 O95445;Q5SRP5 AA476324;AA846749;ABBA01038084;AF118393;AF129756;AF161454;AJ245434;AL662801;AL670886;AL805934;AMYH01016217;BA000025;BC020683;BF344944;BG564719;BX511262;CB054016;CH471081;CN428415;CR354443;CR753842;CR759761;CS185541;NM_001256169;NM_019101;NR_045828 AAD11443;AAD18084;AAF29014;AAH20683;ADQ32214;BAB63389;CAB51604;CAJ42722;EAX03461;EAX03462;EAX03463;EAX03464;NP_001243098;NP_061974;O95445 Hs.534468 1686830;1717479;2175166 A007I39;RH122245;RH92454 G3a;HSPC336;MGC22400;NG20;apo-M NG20-like protein;OTTHUMP00000029364;OTTHUMP00000029365;OTTHUMP00000029366;alternative name: G3a, NG20;apo-M;apolipoprotein M;protein G3a APPROVED protein-coding ENSG00000204444 13916 06068 606907 REVIEWED 1603962 APOO apolipoprotein O This gene is a member of the apolipoprotein family. Members of this protein family are involved in the transport and metabolism of lipids. The encoded protein associates with HDL, LDL and VLDL lipoproteins and is characterized by chondroitin-sulfate glycosylation. This protein may be involved in preventing lipid accumulation in the myocardium in obese and diabetic patients. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 4, 5, 12 and 16.[provided by RefSeq, Sep 2009] X X X p22.11 27970217 28043546 - 23761391 23835958 - 23851465 23926057 - 6480464 21319273;19204726;18029348;16956892;15489334;12975309;12477932;19913121;20628086;20877300;22693255 79135 C9J574;G3V1B6;H7C1U8;Q9BUR5 AA410995;ABBA01072242;ABBA01072243;ABBA01072244;ABBA01072245;ABBA01072246;ABBA01072247;ABBA01072248;ABBA01072249;ABBA01072250;ABBA01072251;ABBA01072252;ABBA01072253;ABBA01072254;ABBA01072255;ABBA01072256;ABBA01072257;ABBA01072258;AC079376;AC131011;AF061264;AK311865;AMYH01022155;AMYH01022156;AY359114;BC002333;BC010102;BC016814;BX099786;CH471074;DB466960;EL951748;NG_013219;NM_024122;NR_026545 AAG43139;AAH02333;AAH10102;AAH16814;AAQ89472;BAG34806;EAW99001;EAW99002;EAW99003;EAW99004;NP_077027;Q9BUR5 Hs.495851 FAM121B;MGC4825;MYO25;My025 OTTHUMP00000023072;OTTHUMP00000023073;apolipoprotein O;brain my025;family with sequence similarity 121B APPROVED protein-coding ENSG00000184831 28727 06657 300753 REVIEWED 1351827 APOOL apolipoprotein O-like This gene encodes a protein which contains an apolipoprotein O superfamily domain. This domain is found on proteins in circulating lipoprotein complexes. [provided by RefSeq, Sep 2011] X X X q21.1 84498355 84587725 + 84145561 84231643 + 84258898 84348323 + 6480464 18029348;15772651;15489334;14702039;12975309;12477932;10737800;22118674 139322 Q6UXV4 ABBA01051632;ABBA01051633;ABBA01051634;ABBA01051635;ABBA01051636;ABBA01051637;ABBA01051638;ABBA01051639;ABBA01051640;ABBA01051641;ABBA01051642;AK096909;AK130506;AMYH01022660;AY358193;BC107095;BC107096;BE328646;BI038188;CH471104;CR749250;NG_021245;NM_198450;Z83820;Z99571 AAI07097;AAQ88560;CAH18106;EAW98568;NP_940852;Q6UXV4 Hs.512181;Hs.729014 1702296;1847583;1858566;2138884;2142960;2146703;2184770;5015961 A006S21;AL022453;D15S1477;DXS326;DXS6994E;DXS8341;SHGC-33825;SHGC-63599 CXorf33;FAM121A;MGC129748;UNQ8193 AAIR8193;OTTHUMP00000023621;apolipoprotein O-like;chromosome x open reading frame 33;family with sequence similarity 121A APPROVED protein-coding 24009 16775 REVIEWED 1312327 APOPT1 apoptogenic 1, mitochondrial 14 14 14 q32.33 84083545 84111477 + 103099084 103128277 + 104029299 104057236 + 6480464 16782708;15489334;15342556;12477932;8125298;20877624;18977203;21906983 84334 H0YJ38;H0YJK3;H0YJM4;H7BZ67;H7C2Z1;Q96IL0 ABBA01048419;ABBA01048420;ABBA01048421;ABBA01048422;AK223092;AK223103;AL139300;AMYH01006048;BC007412;BP317962;CA443899;CH471061;NM_032374 AAH07412;BAD96812;BAD96823;EAW81829;EAW81830;EAW81831;NP_115750;Q96IL0 Hs.598441 1672526;1673896;1683769;2119433;2120543;2158846;2161128;2180864;5016478;5020274;5020946;5020948;5022463;5022578;5022651 D11S2921;D1S1423;D3S1673;G35465;G35510;G35514;G36164;G36166;GDB:434012;L17971;L18441;RH41848;RH48201;RH69467;RH94158 APOP1;C14orf153;MGC2562 OTTHUMP00000204662;UPF0671 protein C14orf153;apoptogenic 1;apoptogenic protein 1;apoptogenic protein 1, mitochondrial;chromosome 14 open reading frame 153;hypothetical protein LOC84334 APPROVED protein-coding 20492 12637 VALIDATED 736021 APP amyloid beta (A4) precursor protein This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 21 21 q21.3 26174732 26465003 - 27252861 27543446 - 1300048;1599199;6480464;6484113;6907045;7240710 16369530 20043810;20043812;20051356;21167219;17448150;12586836;21805181;22009041;22461629;22547976;22660329;10681545;16193067;16286452;10652580;11279603;15910549;17727819;17725929;17701472;17694066;17687027;17686533;17684015;17675890;17659280;17651731;17651693;17636872;17634293;17632276;17632272;17611268;17601350;17595112;17586478;17573534;17573346;17548355;17545160;17537517;17536186;17522316;17514422;17481654;17468104;18851978;18843496;18842294;18840503;18835787;18833287;18819917;18815129;18813964;18806919;18794492;18786140;18765933;18762245;18759497;18755980;18722509;18706476;18702528;18679696;18675254;18667258;18662767;18599641;18599481;18597778;18596605;18585350;18583625;18574238;18573216;18568035;18559276;18555606;18541797;18535375;18521746;18521005;18515161;18513119;18512251;18497889;18497881;18485495;18483477;18483195;18480379;18468999;18467692;18463498;18456655;18442979;18438935;18437002;18434187;18430735;18430556;18426795;18424782;18422760;18413480;18413473;18411275;18408165;18405662;18403114;18403054;18397883;18376127;18374657;18373737;18358666;18353773;18353662;18349519;18322381;18322377;18322375;18322372;18320103;18317569;18313326;18309230;19225519;18029348;2110384;10806211;19657023;19519498;19515914;19505377;19457132;19457079;19450545;19435461;19422822;19416886;19414017;19387667;19380826;19369541;19366692;19363265;19362074;19358576;19346482;19342591;19338344;19320465;19318086;19306298;19302985;19295151;19286555;19282754;19281847;19280202;19272356;19264960;19251705;19242475;19240061;19239106;19228947;19218342;19216516;19204155;19185603;19184666;19170767;19170186;19167357;19166938;19166823;19164507;19154786;19144826;19139910;19126676;19126407;19115126;19101630;19101527;19097908;19096157;19093876;19074441;19074428;19062178;19057576;19056463;19050078;19028695;19015532;19008223;18977241;18974993;18974093;18955727;18955571;18940800;18936252;18922798;18854169;7593229;18304576;18301778;18300294;18291688;18288607;18284028;18283248;18276590;18263584;18248325;18234670;18234110;18224425;18216187;18215070;18201969;18201567;18187157;18184372;18182389;18164313;18163181;18162558;18096514;18089558;18068270;18055545;18053619;18045146;18043715;18040846;18032553;18028874;18026102;18026100;18021806;17997700;17986385;17979527;17959829;17951083;17945434;17940047;17929832;17929129;17914261;17912358;17909280;17905305;17890228;17881287;17873282;17855370;17855343;17785178;17767011;17763155;17761425;17760842;14690498;14687578;14676049;14663182;14659754;14615541;14557245;14550290;14527950;14525989;14523627;14507922;12972252;12960155;12958194;12944403;12925374;12921787;12917434;12900421;12895653;12895507;12893827;12888553;12874400;12867422;12859342;12824062;12815102;12799176;12796495;12782964;12763021;12754201;12730216;12716908;12702875;12697936;12670422;12665801;12659848;12654973;12653567;12645527;12627474;12626500;12611883;16608822;16595682;16555084;16552500;16551656;16541076;16536739;16508101;16505331;16490783;16489755;16485107;16480949;16469300;16467370;16456666;16449801;16436282;16434391;16432277;16432204;16432203;16432149;16423463;16407538;16401644;16374483;16368544;16354928;17446087;17442758;17427190;17416970;17412506;17405936;17405931;17405930;17405928;17393484;17368826;17360908;17360894;17339876;17335780;17332749;17328898;17325276;17319802;17307738;17268504;17264078;17255094;17251431;17234594;17233641;17229472;17215111;17207630;17192425;17168650;17151277;17150042;17141269;17132139;17115426;17113271;17113167;17112637;17098805;17095738;17093061;17056594;17056255;17054906;17048876;17046756;17028131;17012232;17005855;16965061;16947080;16940437;16935943;16924555;16920151;16909010;16906128;16902091;16893414;16887805;16878983;16877355;16865398;16856153;16849336;16846375;16837572;16816122;16815330;16789686;16788822;16785251;16735229;16728400;16705182;16698938;16698128;16685645;16672766;16651889;16651627;16648485;16634632;16344478;16339026;16337035;16335952;16303768;16301330;16301322;16298992;16282321;16267229;16263715;16258386;16252002;16215229;16210396;16201761;16195918;16354549;16344553;16186172;16182533;16178030;16139931;16135089;16129700;16127459;16125396;16109164;16101387;16098972;16095541;16086583;16079141;16053447;16052209;16046408;16027166;16002400;15987951;15987892;15985437;15983050;15975068;15967987;15964569;15959846;15946122;15936948;15923191;15909112;15896298;15895461;15880353;15855647;15855271;15837590;15824110;15809056;15778502;15776278;15772078;15769509;15485850;15474359;15459202;15452132;15452128;15451372;15450086;15385569;15365148;15347684;15347683;15342738;15316009;15294142;15282285;15274612;15255950;15251450;15251442;15234966;15233804;15208267;15208260;15203119;15201367;15197182;15184603;15182369;15178331;15161650;15158161;15126508;15123740;15087549;15087467;15084524;15073156;15059642;15053925;15044485;15037614;15036614;15033805;15013569;15004329;14993906;14992810;14985339;14983046;14978032;14970211;14871891;14769392;14724276;14722157;14699153;14699107;15764367;15755672;15748844;15728175;15722360;15718037;1570556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351 B4DGD0;B4DJT9;E9PEV0;E9PG40;H7C0V9;H7C104;H7C2L2;Q8WZ99 A02759;AB066441;ABBA01057213;ABBA01057214;AF282245;AK294534;AK295373;AK295621;AK296229;AK297229;AK297412;AK298861;AK311717;AK312326;AMYH01012174;AMYH01012175;AMYH01012176;AP001439;AP001440;AP001441;AP001442;AP001443;AY011354;AY919674;BC004369;BC065523;BC065529;BE907745;BI559391;BM172428;BM876312;CB854706;CH471079;CS275872;CS365133;CS448142;CS448144;CS448146;CS448164;CS448166;CS448168;D87675;DC336035;M15532;M15533;M16765;M18734;M24546;M28373;M29270;M33112;M34862;M34863;M34864;M34865;M34866;M34867;M34868;M34869;M34870;M34871;M34872;M34873;M34874;M34875;M34876;M34877;M34878;M34879;M35675;M37896;NG_007376;NM_000484;NM_001136016;NM_001136129;NM_001136130;NM_001136131;NM_001204301;NM_001204302;NM_001204303;NM_201413;NM_201414;S41243;S45136;S60317;S60721;S61380;S61383;X06981;X06982;X06989;X13466;Y00264 AAA35540;AAA51564;AAA51722;AAA51726;AAA51727;AAA51768;AAA58727;AAA60163;AAB23646;AAB26263;AAB26264;AAB26265;AAB59501;AAB59502;AAC13654;AAC60601;AAG47389;AAH04369;AAH65529;AAQ14327;AAW82435;ACE87808;ACT64482;BAA22264;BAB71958;BAG35248;BAG57741;BAG58500;BAG58951;BAG59712;BAG59847;BAG60983;BAH12049;CAA00268;CAA30041;CAA30042;CAA30050;CAA31830;CAA68374;CAJ84410;CAL33835;CAL69791;CAL69792;CAL69795;CAL69796;CAL69831;CAL69838;EAX09957;EAX09958;EAX09959;EAX09960;EAX09961;EAX09962;EAX09963;EAX09964;EAX09965;EAX09966;NP_000475;NP_001129488;NP_001129601;NP_001129602;NP_001129603;NP_001191230;NP_001191231;NP_001191232;NP_958816;NP_958817;P05067 Hs.434980 1336950;1337535;1649514;1652599;1661001;1661622;1664158;1668576;1696304;1696470;1706634;1709202;1718237;1722475;1735040;1741331;1741769;1741771;1743209;1768358;1770220;1784470;1784472;1791324;1795376;2113700;2116162;2118152;2122353;2129618;2153841;2155185;2157100;2158874;2163359;2166282;2175501;2181117;5117600;5120041;7183785 APP;APP_48;D21S1253;D21S1443;D21S1732E;D21S1857;D21S1968;D2S2243;G09932;G34719;G34787;G60161;GDB:180723;GDB:185158;GDB:185159;GDB:192308;GDB:303952;GDB:585471;PMC102624P1;RH122888;RH67934;RH77727;SHGC-170150;SHGC-170152;SHGC-51936;SHGC-51938;SHGC-51939;SHGC-51941;SHGC-51942;SHGC-51944;SHGC-51945;SHGC-52109;SHGC-52131;SHGC-58300;SHGC-77728;SHGC-79795;SHGC-82798;SHGC-85780;WI-18826;WIAF-1682 AAA;ABETA;ABPP;AD1;APPI;CTFgamma;CVAP;PN-II;PN2 OTTHUMP00000096095;OTTHUMP00000096096;OTTHUMP00000096097;OTTHUMP00000096098;OTTHUMP00000225525;PN-II;alzheimer disease amyloid protein;amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease);amyloid beta (a4) precursor protein;amyloid beta A4 protein;beta-amyloid peptide;cerebral vascular amyloid peptide;peptidase nexin-II;preA4;protease nexin-II APPROVED protein-coding ENSG00000142192 620 00100 104300;104760;605714 REVIEWED 1315134 APPBP2 amyloid beta precursor protein (cytoplasmic tail) binding protein 2 The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. This gene has been found to be highly expressed in breast cancer. Multiple polyadenylation sites have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q23.2 57621010 57704071 - 55875302 55958362 - 58520520 58603580 - 1580863;6480464 9843960;11742091;16189514;15489334;12915535;12477932;11331760;11034067;9039502;21145461;14729952;19060904;19176879;16196087;18187417;21139048;21890473;21906983 10513 K7EIZ9;K7EN61;K7ENN3;Q92624 ABBA01035408;AC011921;AC037475;AF017782;AK292227;AK307666;AL157428;AMYH01008529;BC018121;CH471179;D86981;NM_006380 AAC83973;AAH18121;BAA13217;BAF84916;EAW51406;EAW51407;NP_006371;Q92624 Hs.84084 1705024;1774237;1794294;2126791;2155789;2218236;5015867;5022450;5022578;5022588;5109281 APPBP2__4343;D10S275;D1S1423;D1S1425;D5S1597E;GDB:312714;PMC310943P1;RH12422;RH25434;RH45824;SHGC-78028 HS.84084;KIAA0228;PAT1 APP-BP2;amyloid beta precursor protein-binding protein 2;amyloid protein-binding protein 2;protein interacting with APP tail 1 APPROVED protein-coding ENSG00000062725 622 05616 605324 REVIEWED 1607055 APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008] 3 3 p21.1-p14.3 57236805 57282539 + 57261765 57307499 + 6480464;6907045 10490823;12011067;15016378;17848569;18632660;18581887;18307981;18034774;17581628;17502098;17490420;17287464;17030088;16622416;16189514;15489334;15345747;15302935;15070827;12621049;12477932;12168954;10718198;22340213;22379109;20600589;20978232;21285318;19433865;19520843;19686092;20095645;20484574;20814572;20412119;20875820;21320486;19322201;21291857;16751776;23246927;23752268;23762377;23291133;23383273;22863883;21645192;21926268;21562756;22037462;21835890;20639865;21139048;21890473;21906983;16273093;19060904;21963094;21988832;22685329;23055524;22685300;15196694;22053931;22505724 26060 C9JAB0;C9K0C4;Q9UKG1 AB037849;ABBA01024422;ABBA01024423;ABBA01024424;AC093928;AF169797;AF424738;AK299008;AK310716;AMYH01013220;BC010911;BC028599;CH471055;NM_012096 AAF04012;AAH28599;AAL17835;ADZ15518;BAA92666;BAG61090;EAW65335;EAW65336;NP_036228;Q9UKG1 Hs.476415 APPL;DIP13alpha AKT2 interactor;DCC-interacting protein 13-alpha;OTTHUMP00000165214;adapter protein containing PH domain, PTB domain and leucine zipper motif 1;adaptor protein containing pH domain, PTB domain and leucine zipper motif 1;dip13-alpha;signaling adaptor protein DIP13alpha APPROVED protein-coding ENSG00000157500 24035 05053 604299 REVIEWED 1605653 APPL2 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011] 12 12 12 q24.1 105231366 105294273 - 104091205 104154138 - 105567075 105630008 - 6480464 22462604;15016378;18034774;17030088;16622416;16189514;15489334;14702039;12477932;11431708;19433865;20814572;22340213;23055524;22863883;21645192;22989406;23455924;21044950 55198 F8VR68;F8VS86;F8VWV2;F8VXB0;F8W124;H0YH86;Q8NEU8 ABBA01053186;AC016257;AC078874;AK001521;AK290562;AK293783;AK296610;AK297100;AK310377;AMYH01004719;AY113704;BC028008;BC033731;CH471054;DN993818;NG_030419;NM_001251904;NM_001251905;NM_018171 AAH33731;AAM55530;ABM83033;ABM86227;BAF83251;BAG50931;BAH11594;BAH12397;BAH12496;EAW97762;EAW97763;EAW97764;NP_001238833;NP_001238834;NP_060641;Q8NEU8 Hs.506603 1340494;1644974;1690302;2124799 D12S317;RH44961;SHGC-3540;STS-R77239 DIP13B;FLJ10659 DCC-interacting protein 13-beta;DIP13 beta;OTTHUMP00000242288;OTTHUMP00000242289;OTTHUMP00000242290;adapter protein containing PH domain, PTB domain and leucine zipper motif 2;adaptor protein containing PH domain, PTB domain and leucine zipper motif 2;dip13-beta APPROVED protein-coding ENSG00000136044 18242 06945 606231 REVIEWED 70369 AQP1 aquaporin 1 (Colton blood group) Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This gene encodes an aquaporin which functions as a molecular water channel protein. It is a homotetramer with 6 bilayer spanning domains and N-glycosylation sites. The protein physically resembles channel proteins and is abundant in erythrocytes and renal tubes. The gene encoding this aquaporin is a possible candidate for disorders involving imbalance in ocular fluid movement. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 7 7 p14 30917993 30931656 + 30951415 30965131 + 734971;2307072;2312795;2307071;2316076;2316077;2316078;5148011;5148031;5148033;5148029;5148013;6480464;5490120;6907045 9468475;18248364;19096774;18988797;19748503;19619613;19596320;21135737;20156423;21560328;20383338;21092735;21487926 16574458;1722319;7521540;18841368;18575775;18563339;18544259;18538351;18510579;18509662;18392839;18349152;18313673;18282122;18280225;18275976;18247144;18202181;18080132;18067501;18052958;17898873;17894331;17890385;17854859;17632520;17549682;17409744;17408468;17273788;17077939;17012249;16871401;16814974;16698771;16534779;16515633;16481371;16344560;16300893;16189514;15847654;15809704;15783300;15667881;15502805;15489334;15135660;15024704;14753494;14753493;14701836;14592814;14514735;12853948;12781664;12690205;12498798;12477932;12399631;12237771;12137754;12027013;12002613;11922632;11909995;11884383;11780053;11532455;11408278;11171962;11097616;11034202;10873606;10872456;10839360;10559675;9177353;8703970;8576117;8340403;7693713;7677994;7540589;7532004;7521882;7518771;7517546;7517253;7514605;7507481;3166547;3049610;2007592;1373524;21271497;22269467;17545093;11914159;12051745;12172703;12522663;12766090;12801959;14561230;14675051;15727941;16133142;16565507;16682607;16711029;17636236;17645239;18617525;18665841;19253825;19268465;19273840;19306058;19424603;19447967;19472194;19545896;19584911;19619954;19726340;19772916;19787701;20063900;20101282;20360993;20424473;20431033;7491270;7544358;8584435;9013443;9096382;9321919;20739606;21063116;20806077;21107133;20149606;20578142;20461409;20795314;20828513;12745312;20969805;20409716;19913121;20628086;20628061;17511167;17219999;19522191;19670620;21237499;21252246;21360438;20965731;22901156;22901921;15563082;21244858;21373963;21784068;21760919;20137115;23332061;21612401;23029502;23317544;19080511;21395179;21551254;21793635;21896312;22334691;21839760;22006723;22472942;22093331;22372348;22310126;22396660;23313295;21538271;19060904;22964306;23219802;23393355;22348807;23220481;23361277;23450058 358 B4E220;P29972 AACC02000087;AB451275;AB451402;ABBA01056814;AC004691;AC005155;AF480415;AK298091;AK298313;AK300995;AK301351;AK304684;AK309608;AK309688;AK309691;AK312656;AMYH01017151;AU122128;AY312580;AY312581;AY953319;BC022486;BC141905;BI837828;CH471073;DA197236;DA712111;M77829;NG_007475;NM_001185060;NM_001185061;NM_001185062;NM_198098;S73482;U41517;U41518 AAA58425;AAB31193;AAC16481;AAC23788;AAC50648;AAC50649;AAH22486;AAL87136;AAR16185;AAR16186;AAX24129;ABM83292;ABM86501;BAG35539;BAG60376;BAG60567;BAG62614;BAG62897;BAG65455;BAG70089;BAG70216;EAL24446;EAW93971;EAW93972;NP_001171989;NP_001171990;NP_001171991;NP_932766;P29972 Hs.76152 1646166;1660423;1666089;1745047;1789542;1789544;1789546;1856857;2125487;2142236;2143454;2152787 A007C48;AQP1;D7S2041E;D7S2065E;D7S2755;G68146;G68147;G68149;GDB:593256;STS-M77829;T03581;WI-9113 AQP-CHIP;CHIP28;CO;MGC26324 AQP-1;Colton blood group;OTTHUMP00000123398;OTTHUMP00000202461;OTTHUMP00000202462;aquaporin 1;aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group);aquaporin-1;aquaporin-CHIP;channel-like integral membrane protein, 28-kDa;urine water channel;water channel protein for red blood cells and kidney proximal tubule APPROVED protein-coding ENSG00000240583 633 00140 107776;110450 REVIEWED 1606553 APTX aprataxin This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010] 9 9 p13.3 32962608 32991626 - 32972604 33001639 - 6480464;7240710 16547001;16964241;17276982;17519253;15044383;14755728;16777843;19103743;18836178;18202221;17572444;17485165;17240329;17049295;16713569;16439205;15852392;15790557;15719174;15699391;15596775;15555565;15489334;15380105;15365154;15276230;15164193;15164053;14702039;14534929;14506070;12629250;12477932;12196655;12119013;11586300;11586299;11170899;7891378;7782601;3239952;20399152;20371676;16344560;19953284;19561170;19643912;19861517;19960345;19759913;20301629;15367657;21412945;21486904;21502511;21984210;21465257 54840 C9J8U3;C9JZ40;E7EUY4;E7EVB7;F8W6G5;F8WBD6;F8WBM3;Q6JV79;Q9NXM5 AA494365;AB603741;ABBA01065073;ABBA01065074;ABBA01065075;AJ565850;AJ565851;AJ565852;AJ565853;AJ565854;AJ565855;AJ575566;AK000164;AK055672;AK131046;AL162590;AL353717;AMYH01019321;AY040777;AY208829;AY208830;AY208831;AY208832;AY208833;AY208834;AY208835;AY208836;AY208837;AY208838;AY208839;AY208840;AY208841;AY208842;AY302067;AY302068;AY302069;AY302070;AY302071;AY302072;AY302073;AY302074;BC001628;BC032650;BC068107;BC104881;BQ957536;BX538161;CA429601;CH471071;CS185575;DA664623;DB042208;NG_012821;NM_001195248;NM_001195249;NM_001195250;NM_001195251;NM_001195252;NM_001195254;NM_175069;NM_175073;NR_036576;NR_036577;NR_036578;NR_036579 AAH01628;AAH32650;AAI04882;AAK91768;AAP86319;AAP86320;AAP86321;AAP86322;AAP86323;AAP86324;AAP86325;AAP86326;AAP86327;AAP86328;AAP86329;AAP86330;AAP86331;AAP86332;AAQ74130;AAQ74131;AAQ74132;AAQ74133;AAQ74134;AAQ74135;AAQ74136;AAQ74137;ADZ15765;BAA90985;BAG51552;BAK31015;CAD92454;CAD92455;CAD92456;CAD92457;CAD92458;CAD92459;CAD98041;CAE01427;CAJ42756;EAW58528;EAW58529;EAW58530;EAW58531;EAW58532;EAW58533;EAW58534;EAW58535;NP_001182177;NP_001182178;NP_001182179;NP_001182180;NP_001182181;NP_001182183;NP_778239;NP_778243;Q7Z2E3 Hs.20158 1765209;1846773;2121424;2163437;2174527;2174529;5020753;5093580 A005Z44;A009S13;G20636;G32803;RH16252;RH46890;SHGC-148705;SHGC-34030 AOA;AOA1;AXA1;EAOH;EOAHA;FHA-HIT;FLJ20157;MGC1072 OTTHUMP00000021189;OTTHUMP00000021190;OTTHUMP00000215291;OTTHUMP00000215292;OTTHUMP00000215296;OTTHUMP00000215302;OTTHUMP00000215305;OTTHUMP00000215306;OTTHUMP00000215307;OTTHUMP00000215310;aprataxin;forkhead-associated domain histidine triad-like protein APPROVED protein-coding ENSG00000137074 15984 05892 208920;606350 REVIEWED 1346803 AQP12A aquaporin 12A 2 2 2 q37.3 235289033 235295670 - 241279935 241286573 + 241631262 241637900 + 1580863;6480464 15809071 375318 C9J6F6;Q8IXF9 AB040748;ABBA01048880;AC011298;AMYH01011624;AMYH01011625;CH471063;NM_198998 AAI72337;BAC45006;EAW71211;NP_945349;Q8IXF9 Hs.534650 AQP-12;AQP12;AQPX2 AQP-12;OTTHUMP00000164503;OTTHUMP00000201387;aquaporin 12;aquaporin X2;aquaporin-12A protein-coding ENSG00000184945 19941 16504 609789 VALIDATED 1317133 APRT adenine phosphoribosyltransferase Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 q24 87403378 87405843 - 88875877 88878342 - 1599204;1580863;1599201;5135035;6480464;6907045;7240710 2451510;15571218;6327016 15196008;457664;3531209;17353931;16130169;18399692;17126311;15489334;14674717;12665801;12477932;11243733;10937693;10481956;10479485;10369268;9521589;9298830;8889579;8882882;8455250;7915931;7685481;7660991;3684585;3680503;3554238;3343350;2502918;2227951;2135300;2067530;1985452;1746557;1353080;869896;116697;18029348;19399589;20098747;21832049;22939629;22053931;22505724;19738201;20706999;21963094;22623428;23000965;18781797;21139048;21890473;21906983;21987572;21635362;22934314 353 H3BQB1;H3BQF1;H3BQZ9;H3BSW3;P07741 ABBA01013586;AC092384;AMYH01007914;AY306126;BC106894;BC106895;BC107151;BM423481;BM550173;BU507629;CH471184;CR749423;HH961760;M16446;NG_008013;NM_000485;NM_001030018;U09817;Y00486 AAA51769;AAB84304;AAI07152;AAP45051;CAA68543;CAH18261;CBX51353;EAW66760;EAW66761;NP_000476;NP_001025189;P07741 Hs.28914 1741351;1778214;2120281 GDB:180915;RH68125;RH70957 AMP;APRTD;DKFZp686D13177;MGC125856;MGC125857;MGC129961 AMP diphosphorylase;AMP pyrophosphorylase;adenine phosphoribosyltransferase;transphosphoribosidase APPROVED protein-coding ENSG00000198931 626 00029 102600;614723 REVIEWED 1352752 AQP12B aquaporin 12B 2 2 q37.3 241264508 241270990 - 241615835 241622317 - 6480464 12477932 653437 A6NM10;F2Z3N0;Q8IUS6 ABBA01048879;ABBA01048880;AC011298;AMYH01011624;BC041460;BC139748;BC157895;BC171912;NM_001102467 A6NM10;AAH41460;AAI39749;AAI57896;AAI71912;NP_001095937 Hs.437167 INSSA3;MGC149473 AQP-12B;OTTHUMP00000201388;aquaporin-12B;insulin synthesis associated 3 protein-coding ENSG00000185176 6096 VALIDATED 1344809 AQP10 aquaporin 10 This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 127365303 127369516 + 152560216 152564425 + 154293592 154297801 + 1580863;2312795;6480464 19096774 18678926;17975119;15898950;15489334;12477932;12084581;11573934;19913121;20628086;17207965;17575980;19023099;19204726;21691092;21733844;23382902 89872 Q96PS8 AB066105;ABBA01049481;AF159174;AK314993;AL162591;AL354980;AMYH01001415;BC069607;BC074896;BC074897;CH471121;NM_080429 AAH69607;AAH74896;AAH74897;AAL25998;ADQ32883;BAB91223;BAG37489;EAW53209;EAW53210;EAW53211;NP_536354;Q96PS8 Hs.259048 AQPA_HUMAN AQP-10;OTTHUMP00000034195;OTTHUMP00000034196;aquaglyceroporin-10;aquaporin-10;small intestine aquaporin APPROVED protein-coding ENSG00000143595 16029 07361 606578 REVIEWED 736750 AQP11 aquaporin 11 11 11 11 q14.1 74608361 74629072 + 76978328 76998342 + 77300680 77321401 + 1580863;6480464 15489334;16650285;16303743;16107722;12477932;17207965;21118806 282679 Q8NBQ7 AB028147;ABBA01017426;AK075346;AK311096;AMYH01003825;AP000609;AP002789;BC040443;BJ994586;CH471076;CS051419;CX867790;NM_173039 AAH40443;ADQ32983;BAC11558;BAC45004;CAI72204;EAW75030;EAW75031;NP_766627;Q8NBQ7 Hs.503345 1680206;1723375;1726683;2151136;2174097 G62578;RH123239;RH92330;SHGC-1207;SHGC-31328 AQPX1 AQP-11;OTTHUMP00000228846;aquaporin-11 protein-coding ENSG00000178301 19940 16503 609914 VALIDATED 735519 AQP4 aquaporin 4 This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. The encoded protein is the predominant aquaporin found in brain. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 18 18 q11.2-q12.1 22686005 22699714 - 24432007 24445716 - 730277;1580863;2312795;5490116;5148010;5148027;5148028;5148037;5490117;5148011;5148023;5148026;5148029;5490122;5148016;5148022;5148035;5148036;5148014;5148025;2316076;5490126;5148024;5490118;5490153;5148012;5490120;5148006;5148030;5490154;2326035;5148033;5148020;5148013;5148032;5490129;5490152;5148008;5148015;5148031;5148034;6480464;5684013;6907045 7528931;19096774;19660138;21187412;20517941;20680099;19806476;21157915;21135737;20886625;20680636;20383338;20720509;20979759;20924629;21280976;19864112;21083433;20728226;19748503;20541575;16087714;21724913;19089902;21107133;21487926;21255222;20451280;18836575;20216911;21560328;20938728;21092735;20047900;20111877;19616516;21771203;21056916;20156423;21488209;21718723 7559426;19487655;19445480;19383790;19366470;19266146;19209385;19153045;19140826;19112001;19028829;18854171;18641458;18516975;18511455;18510734;18474738;18462810;18437047;18392839;18309154;18280225;18095136;18071147;18019416;17984171;17899684;17890008;17549682;17335082;16871401;16831965;16814974;16778375;16194264;16133546;16103109;15489334;15200272;14753493;14627352;12715185;12477932;12137754;12107411;11890849;11742978;11717465;11408278;11245621;9824541;9676432;8855281;8617713;8601457;8125298;18435417;22307776;22507888;21491501;17645239;19000426;19465451;19752303;19764565;19772916;19938104;19965522;20007705;20013023;20028711;20131265;20138100;20227773;20351659;20339523;20461409;19761816;20109536;17207965;20106632;20463974;21063116;20628061;23054238;20232212;20467785;20934410;21252246;20577926;21321193;21262839;21212277;21303170;20965731;22714714;22732097;23116879;23378324;21454592;21424125;20685122;21333492;21621278;21548930;21107126;21900637;22987438;21524183;22540328;21813785;22808259;23008451;22360420;21241398;21689527;21784068;20953960;21300735;21981006;22334710;22394609;21909659;22372348;20141731;21952128;21968684;22069320;21896312;22291033;22393049;22248725;22608667;22906356;21908481;21965418;21914143;22718347;22083667;23270503;22554469;22802001;22628234;22679274;22925751;22378467;22773464;22777185 361 F1DSG4;H0Y3H5;J3KRM4;P55087 AB128929;AB209156;ABBA01022569;AC018371;AK026728;AK222684;AK295069;AL119338;AL138136;AMYH01008906;AV725241;BC022286;BC030745;BC045780;BI596912;BI667387;BI917845;BQ638704;CD105892;CH471088;CK001094;D63412;HQ901095;N50070;NG_029560;NM_001650;NM_004028;R35726;U34845;U63613;U63622;U63623 AAB26957;AAB26958;AAC50284;AAG17964;AAH22286;ADQ32133;ADZ13511;BAA09715;BAD22823;BAD92393;BAD96404;BAG58116;EAX01228;EAX01229;NP_001641;NP_004019;P55087 Hs.315369 1648568;1649960;1666233;1669551;1674628;1678671;1712663;1734586;1795378;2143535;2148688;2164624;7186708 A002Q03;A006W40;AQP4_717;D18S1195;D18S1223;D18S941E;RH121996;RH18229;RH25921;SHGC-36589;WI-13598;WI-21214 HMIWC2;MGC22454;MIWC AQP-4;OTTHUMP00000162792;WCH4;aquaporin type4;aquaporin-4;mercurial-insensitive water channel APPROVED protein-coding ENSG00000171885 637 02631 600308 REVIEWED 70370 AQP2 aquaporin 2 (collecting duct) This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008] 12 12 q12-q13 48630796 48638931 + 50344524 50352664 + 734596;1580863;1601243;2314280;2314281;2314283;2314303;2314306;2314325;2314292;2314293;2314326;2314343;2314296;2314310;2314282;2314347;2312654;2314344;2314345;2312795;2314279;2313211;2314285;1303982;2312656;6480464;6907045;7240710 11035038;16582573;19585583;19461158;19293543;16968783;16845277;16434568;18296634;15705184;12218327;17229678;16641094;19458121;11380083;18971210;12191971;12021537;19096774;19701945;15579502;19147915;15037626;18431594 22403735;16825342;16580609;16563128;16483614;16449354;16288724;16221200;16159898;16049696;15956775;15922355;15703994;15489334;15458431;15155571;15100362;15012730;14702039;14662748;14593099;14514735;12819016;12787389;12631357;12566732;12477932;16902321;12208541;12194985;12051765;12050236;11929850;11536078;11509828;11456273;11297561;11076974;10710543;10372737;9745427;9649557;9550615;9402087;9302264;9268644;9048343;8882880;8140421;8125298;7525161;7524315;7522228;7512890;7510718;17965877;7532304;16928804;19138132;18678705;18519086;18515885;18389276;18247144;18066585;18040725;17957381;17763164;17636261;17550212;17192724;16979638;19923410;20379614;20416077;20452482;8584435;9321919;20724536;20403973;20390303;20673868;21063116;20722976;21237499;21252246;22732097;23078817;23326416;21824900;21715543;21209006;20301356;22889921;22644838;23364801;22778181 359 F8VPL3;F8W0S2;P41181 ABBA01031544;AC025154;AC067739;AF147093;AI792401;AK055824;AK225940;AMYH01004449;BC042496;CH471111;CR542024;D31846;NG_008913;NM_000486;S73196;S73197;Z29491 AAB31998;AAB31999;AAD38692;AAH42496;BAA06632;CAA82627;CAG46821;EAW58109;NP_000477;P41181 Hs.130730 2141900 STS-D31846 AQP-CD;MGC34501;WCH-CD ADH water channel;AQP-2;OTTHUMP00000241925;OTTHUMP00000241926;OTTHUMP00000242769;aquaporin 2;aquaporin-2;aquaporin-CD;collecting duct water channel protein;water channel protein for renal collecting duct;water-channel aquaporin 2 APPROVED protein-coding ENSG00000167580 634 00141 107777;125800 REVIEWED 737143 AQP6 aquaporin 6, kidney specific The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008] 12 12 12 q13 49162741 49167043 + 48652887 48657189 + 50366620 50370922 + 1580863;2312795;6480464 19096774 8812490;12477932;12177001;9268644;12522663;19680475;20461409 363 F8VW87;Q13520 ABBA01031546;AC025154;AL137716;AMYH01004449;BC065275;CH471111;NM_001652;U48408;U48409 AAB41566;AAB41567;AAI56044;AAI56930;CAB70889;EAW58111;NP_001643;Q13520 Hs.54505 1689999;1690838;5037552 D8S2279;RH98744;RH98915 AQP2L;KID AQP-6;OTTHUMP00000164830;aquaporin 2-like, kidney specific;aquaporin 6;aquaporin-2-like;aquaporin-6;aquaporin-6, kidney specific;hKID;kidney-specific aquaporin APPROVED protein-coding 639 03226 601383 REVIEWED 1347753 AQP4-AS1 AQP4 antisense RNA 1 18 18 18 q11.2 21255439 21326075 + 22764656 22768365 + 24445272 24515910 + 15489334;14702039;12477932 147429 ABBA01022568;ABBA01022569;AC010854;AC018371;AK055069;AMYH01008906;BC043377;BC105127;BC112070;CH471088;NR_026908 BAB70850;EAX01231 Hs.559280 1649427;1681090;1712663;5014051;5022200;5022651;5037552 D11S2921;D8S2278;D8S2279;G31028;L18426;RH121996;RH92179 C18orf16;CHST9-AS1;FLJ30507;MGC138275 APPROVED miscrna ENSG00000260372 26399 08510 PREDICTED 68638 AQP3 aquaporin 3 (Gill blood group) This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. [provided by RefSeq, Aug 2011] 9 9 p13 33431158 33437590 - 33441152 33447631 - 704374;704407;1580863;2312795;5490152;6480464;6484113;6907045 12595491;12517734;19096774;19616516 17943189;7543093;19393693;19184071;18678926;18601899;18543247;18435676;18280225;18247144;18036046;17968524;17471492;17056099;16918518;16672223;16638588;16596446;16043462;15703994;15489334;15375592;15164053;14702039;14675200;14514735;12773542;12769265;12477932;12239222;12234316;11918716;11751877;9558461;9525951;8641135;7558005;22814259;22624030;21401805;20596606;17545093;12522663;18197497;18718702;19545896;19619514;20485009;14521551;20546216;19913121;20106632;20428189;20628086;21063116;22901156;20364107;21191421;21237499;21252246;21276418;16344560;21135872;22808259;21457357;21907710;23017148;23043286;20141731;19322201;22576684;22197473;22211241;21538271;23041062;23152856;22535323;23165320 360 Q92482 AB001325;ABBA01065052;AJ493597;AK095363;AK292208;AK303206;AK315760;AL356218;AMYH01019322;BC012988;BC013566;BF437236;BT007199;CH471071;CR541991;CR542025;D50486;DA976040;DQ083949;JA738585;NG_007476;NM_004925 AAH13566;AAP35863;AAY68214;BAA09077;BAA19237;BAF84897;BAG38113;BAG64296;CAD38526;CAG46788;CAG46822;CCF76945;EAW58500;EAW58501;EAW58502;EAW58503;EAW58504;NP_004916;Q92482 Hs.234642 1663111;1773868;1797292;2145055;5113609;5491306 AQP3_2497;Aqp3;RH46411;RH46932;SGC34487;SHGC-34032 AQP-3;GIL AQP-3;Gill blood group;OTTHUMP00000021206;aquaglyceroporin-3;aquaporin 3;aquaporin 3 (GIL blood group);aquaporin-3 APPROVED protein-coding ENSG00000165272 636 08970 600170;607457 REVIEWED 736375 AQP7 aquaporin 7 Aquaporins/major intrinsic protein (MIP) are a family of water-selective membrane channels. Aquaporin 7 has greater sequence similarity with AQP3 and AQP9 and they may be a subfamily. Aquaporin 7 and AQP3 are at the same chromosomal location suggesting that 9p13 may be a site of an aquaporin cluster. Aquaporin 7 facilitates water, glycerol and urea transport. It may play an important role in sperm function. [provided by RefSeq, Jul 2008] 9 9 p13 33374948 33392517 - 33384948 33402517 - 69753;1580863;1626292;1626289;2312795;6480464 9252401;15338270;17566090;19096774 9405233;18401671;17562358;17351148;16325777;15252450;15164053;14702039;12477932;11952783;9931374;9824541;9714739;18718702;19615702;20463097;22425521;21609198;22899094;23001483;23290745;22206455 364 B7Z4U2;B7Z7F6;O14520;Q08E94;Q5T5L3;Q5T5L4;Q5T5L5;Q5T5M0;Q5T5M1;Q6P5T0 AB006190;AB052626;ABBA01065057;ABBA01065058;ABBA01065059;ABBA01065060;AK055744;AK294028;AK297860;AK297885;AK300716;AK301949;AK310456;AK315879;AL356218;AMYH01019322;BC062701;BC119672;BC119673;CH471071;DQ786216;NG_027764;NM_001170 AAH62701;AAI19673;AAI19674;BAA21745;BAC05693;BAF98770;BAH11653;BAH12678;BAH12686;BAH13332;BAH13592;EAW58505;EAW58506;NP_001161;O14520 Hs.455323 5022578;5111959;5124703 D1S1423;G43491;RH64915 AQP7L;AQP9;AQPap;GLYCQTL;MGC149555;MGC149556 AQP-7;OTTHUMP00000021216;OTTHUMP00000021220;aquaglyceroporin-7;aquaporin adipose;aquaporin-7;aquaporin-7-like APPROVED protein-coding ENSG00000165269 640 04277 602974;614411 REVIEWED 3277469 AQP7P4 aquaporin 7 pseudogene 4 9 9 q13 66770755 66788248 + 67038569 67048428 + 100132938 AL591379;AMYH01021128;AMYH01021129;NG_021659 pseudo 32056 INFERRED 1604890 AQP7P3 aquaporin 7 pseudogene 3 9 9 9 p12 89603533 89636019 + 42847807 42865518 + 42858152 42893138 + 12477932;11952783 441432 A6NL99 AC129778;AMYH01020138;AMYH01020139;AMYH01020140;AMYH01020141;AMYH01020142;AMYH01020143;AMYH01020144;AMYH01020145;BC052332;NR_026558 A6NL99 Hs.743215 AQPap-3 pseudo 31976 17406 PROVISIONAL 1603335 AQP7P1 aquaporin 7 pseudogene 1 9 9 q13 66960035 66979312 - 67270215 67289492 - 12477932;11952783 375719 AB052627;AB052630;AK128231;AL845321;AMYH01021159;BC070322;BC071803;NR_002817 Hs.658215 5111959;5124703 G43491;RH64915 bA251O17.3 pseudo 32048 PROVISIONAL 70371 AQP5 aquaporin 5 Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008] 12 12 q13 48641546 48645227 + 50355279 50359461 + 727251;1580863;2312795;70240;5490152;6480464;6484113 11773623;19096774;11773623;19616516 8621489;18853286;18846354;19664333;15342556;18768791;18612408;18583321;18478076;18449356;18305162;18280225;18215141;18042467;17640479;17553491;17043812;16537379;16500622;16341674;16189514;15489334;12801959;12565800;12477932;11408278;11245621;10476940;9268644;20362698;20669661;20806077;12522663;19060904;19273840;19340551;19652646;20360993;20106632;19166033;21455588;21427539;22732097;21151978;21244858;21524183;21251364;21315850;23160677;22145049;21950762;22472942;22470085;22576684;23176748;21988832;23313152;22048942;23352976;23436048;23326416;21973049 362 P55064 ABBA01031544;ABBA01031545;ABBA01031546;AC025154;AMYH01004449;BC032946;BP272197;BQ083334;BX095029;CH471111;CR541989;CR542022;NM_001651;U46566;U46567;U46568;U46569 AAC50474;AAH32946;ABM82149;ABM85332;CAG46786;CAG46819;EAW58110;NP_001642;P55064 Hs.298023 AQP-5 AQP-5;OTTHUMP00000241927;aquaporin-5 APPROVED protein-coding 638 02706 600442 REVIEWED 1601913 AQP7P2 aquaporin 7 pseudogene 2 9 9 q21.11 68923169 68941137 - 69633922 69651282 - 6480464 12477932;11952783 389756 ABBA01017695;ABBA01017696;AL445665;AMYH01021268;AMYH01021269;AMYH01021270;AMYH01021271;AMYH01021272;AMYH01021273;NG_023409 pseudo 32049 INFERRED 737411 AQP8 aquaporin 8 Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008] 16 16 p12 25135786 25147754 + 25228285 25240253 + 1580863;6480464;5490152;6907045 19616516 19563057;9806845;18948439;17461471;15489334;12712100;12477932;11717661;11329013;11231887;10393433;9325099;8125298;17545093;12801959;17636236;20144166;20424473;17207965;20732771;22901156;18788571;19087520;22192778 343 O94778;Q53GF6 AB013456;ABBA01017123;AC008741;AF067797;AK222964;AK222975;AMYH01007398;BC040630;BG221545;CH471145;NM_001169 AAF19050;AAH40630;ADQ33080;BAA34223;BAD96684;BAD96695;EAW55769;EAW55770;NP_001160;O94778 Hs.176658 AQP-8 AQP-8;OTTHUMP00000122504;aquaporin-8 APPROVED protein-coding ENSG00000103375 642 04778 603750 REVIEWED 735505 AQP9 aquaporin 9 The aquaporins are a family of water-selective membrane channels. The protein encoded by this gene allows passage of a wide variety of noncharged solutes. It stimulates urea transport and osmotic water permeability; there are contradicting reports about its role in providing glycerol permeability. The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. [provided by RefSeq, Jul 2008] 15 15 q 56217700 56265402 + 58430408 58478110 + 1580863;2312795;2326035;6480464;6907045;7240710 19096774;20216911 9733774;9514918;19481256;19100828;18762715;18652774;18401671;17525633;17346701;17081983;16480766;15592307;15489334;15336539;12681500;12477932;11597198;11466204;10564231;17545093;20378617;17636236;18197497;18718702;19615702;19629726;19772916;19802720;19916714;20379614;20424473;20587318;20960106;20732771;22425521;20220109;21873454;21945491;22319637;19953087;22262958;22916037 366 H0YK62;O43315 AB008775;ABBA01038985;ABBA01038986;AC025431;AC066616;AF016495;AF102870;AK300055;AK313214;AMYH01006678;BC026258;BE042553;CB528930;CH471082;CR542027;DC410284;HC250945;HC311134;NG_011975;NM_020980 AAF16677;AAF27983;AAH26258;BAA24864;BAG36029;BAG61864;CAG46824;CBJ05770;CBJ21222;EAW77532;EAW77533;EAW77534;NP_066190;O43315 Hs.104624 1339044;1676188;1681999;1724907;1759003;1767355;1794866;1795220;1849119;2181789 AQP9_51;ATC-P10583;D15S1283;D15S198;PMC61180P1;RH119218;RH1645;RH98507;SHGC-150628;SHGC-2193 AQP-9;HsT17287;SSC1 OTTHUMP00000163469;aquaglyceroporin-9;aquaporin-9;small solute channel 1 APPROVED protein-coding ENSG00000103569 643 04223 602914 REVIEWED 1606341 ARAF2P v-raf murine sarcoma 3611 viral oncogene homolog 2, pseudogene 7 7 7 q11.21 59675988 59676957 - 62502402 62503193 - 62864760 62865776 - 12477932;9847074;8020955;2717185;1505215 644000 AC073188;AMYH01017381;BC033982;L24037;NG_008381 1667105 ARAF2 ARAF2;ARAFPS;PKS1 pseudo 647 INFERRED 6481281 ARAP1-AS1 ARAP1 antisense RNA 1 100874075 AP003065 APPROVED miscrna 39993 5131395 ARAP1-AS2 ARAP1 antisense RNA 2 11 11 q13.4 69716083 69721727 + 72411519 72416889 + 100506020 ABBA01017534;AK125753;AMYH01003796;AP003065;XR_110891;XR_111206;XR_171905 Hs.503165 1782472 SHGC-156281 FLJ43765 APPROVED miscrna ENSG00000245148 39994 MODEL 2306588 ARAF3P v-raf murine sarcoma 3611 viral oncogene homolog 3, pseudogene 7 7 7 q11.21 59675983 59676957 - 62440429 62441646 + 62803095 62804112 + 9847074;1505215 285893 ABBA01018529;AC006455;NG_003157 1667105 ARAF2 ARAFPS2 pseudo 35474 INFERRED 735652 AR androgen receptor The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. 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367 E7EVX6;E9PEG3;F1D8N5;F5GZG9;P10275 ABBA01067242;ABBA01067243;ABBA01067244;ABBA01067245;ABBA01067246;ABBA01067247;ABBA01067248;ABBA01067249;ABBA01067250;ABBA01067251;ABBA01067252;ABBA01067253;ABBA01067254;ABBA01067255;ABBA01067256;ABBA01067257;ABBA01067258;ABBA01067259;ABBA01067260;ABBA01067261;AF162704;AF321914;AF321915;AF321916;AF321917;AI352339;AL049564;AL158016;AL356358;AMYH01022515;AMYH01022516;AMYH01022517;AX453758;BC132975;CH471132;FJ235919;FJ235920;GU208210;HQ692823;JB048765;L29496;M20132;M20260;M21748;M23263;M27430;M34233;M35851;M58158;M73069;NG_009014;NM_000044;NM_001011645;S79366;S79368;U16371 AAA51729;AAA51735;AAA51770;AAA51771;AAA51772;AAA51774;AAA51775;AAA51778;AAA51780;AAA51886;AAB21256;AAB21257;AAB60346;AAD45921;AAI32976;AAK09423;AAK09424;AAK09425;AAK09426;ACN39562;ACN39563;ACZ81436;ADZ17334;CCV20035;EAX05380;NP_000035;NP_001011645;P10275 Hs.76704 1662767;1667291;1677790;1702308;1702966;1703046;1729259;1729269;1729273;1729277;1729279;1740911;1740915;1740917;1740919;1740931;1740933;1740935;1740937;1740939;1740941;1740943;1741845;1742003;1742277;1742377;1744515;1745941;1792150;1793336;1793338;1793340;1797302;1854524;2119949;2122463;2124270;2137901;2154697;2190489;5117446;7185477 AF020219;AR;AR_1980;D19S216;DXS1397;DXS7498;DXS7751;DXS9736;G64112;G64113;G64114;G64115;G64116;G64286;GDB:176283;GDB:176286;GDB:176287;GDB:176288;GDB:176322;GDB:176323;GDB:176324;GDB:176326;GDB:176327;GDB:176328;GDB:176329;GDB:185508;GDB:188670;GDB:194743;GDB:196546;GDB:197027;GDB:511610;GDB:555517;GDB:600694;PMC137585P1;PMC20963P1;PMC20963P2;PMC20963P3;RH11082;RH99038;STS-M20132;STS-N64522;WI-20403 AIS;DHTR;HUMARA;HYSP1;KD;NR3C4;SBMA;SMAX1;TFM OTTHUMP00000023450;OTTHUMP00000217211;androgen nuclear receptor variant 2;androgen receptor;androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease);dihydrotestosterone receptor;nuclear receptor subfamily 3 group C member 4 APPROVED protein-coding ENSG00000169083 644 02437 176807;300068;300633;312300;313200;313700 REVIEWED 1604505 AQPEP laeverin 5 5 5 q23.1 111246534 111311673 + 115326170 115391199 + 115298151 115363299 + 6480464 19578876;17525158;16804865;15897020;15489334;14706636;14702039;12477932;19819873;20379614;21212512;22402206 206338 Q0P5U8;Q6Q4G3 ABBA01069029;AC010282;AC034236;AK027809;AK075131;AK291655;AMYH01015563;AY560010;BC036440;BC045809;BC060869;BC068560;BC070028;BC094716;BC109022;BC109023;BX096521;CH471086;NM_173800 AAH60869;AAH68560;AAI09023;AAI09024;AAS66719;BAC11422;BAF84344;EAW48946;EAW48947;EAW48948;EAW48949;EAW48950;NP_776161;Q6Q4G3 Hs.98288 1335267;1655033;1678963;1685265;1712965;1759731;1766983 D5S2055;RH120572;RH66556;RH98415;RH98999;SHGC-151261;SHGC-152535 APQ;FLJ90650;LVRN;MGC125378;MGC125379 AP-Q;CHL2 antigen;OTTHUMP00000159130;OTTHUMP00000222937;aminopeptidase Q APPROVED protein-coding ENSG00000172901 07118 610046 VALIDATED 1314717 AQR aquarius homolog (mouse) 15 15 15 q14 11907907 12021336 - 32935844 33049287 - 35148552 35261995 - 6480464;6907045 16949364;15489334;14702039;12477932;11991638;9628581;9626505;20588308;19615732;20379614;20360068;21139048;21890473;21906983;22318606;22446626;22586326;23084401 9716 H0YH15;H0YLN9;O60306 AB011132;ABBA01038515;ABBA01038516;ABBA01038517;AC018868;AK001173;AK291615;AK315815;AL703893;AMYH01006540;BC027452;BC036913;BC070379;BC108262;BC127111;BC127112;BX647820;BX648611;CH471125;EF553519;NM_014691 AAH36913;AAH70379;AAI08263;AAI27112;AAI27113;ABQ66265;BAA25486;BAF84304;BAF98706;EAW92319;EAW92320;EAW92321;NP_055506;O60306 Hs.510958 1671577;2109053;2144276;2191387 AQR_8983;MARC_21173-21174:1027090229:1;WI-14003;WI-16389 DKFZp686B23123;IBP160;KIAA0560;fSAP164 functional spliceosome-associated protein 164;intron-binding protein aquarius;intron-binding protein of 160 kDa protein-coding ENSG00000021776 29513 12468 610548 VALIDATED 1348364 ARAF v-raf murine sarcoma 3611 viral oncogene homolog This proto-oncogene belongs to the RAF subfamily of the Ser/Thr protein kinase family, and maybe involved in cell growth and development. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2012] X X p11.4-p11.2 47305522 47316264 + 47420499 47431320 + 5686410;6480464;6907045 22177953 14688025;14684750;12477932;11952167;11812000;10967104;10848612;9110174;9042965;8621729;8619474;8394352;8157000;8020955;7731720;3529082;2717185;1262038;11969417;15778465;11909642;12620389;17353931;3029685;18662992;17603482;17535970;17081983;16980614;16964243;16344560;16189514;15772651;15763428;15736953;15489334;15324660;20936779;17380122;20145135;19667065;21903422;21139048;22318606;17979178;20706999;21988832;22939624;23352452 369 B4DMG5;P10398;Q96II5 AB158254;AB208831;ABBA01052378;ABBA01052379;AF052136;AK130043;AK297453;AK300975;AK307747;AMYH01022263;BC002466;BC007514;BT019864;CA424869;CH471164;DA264472;DC362427;L24038;M13829;NG_016339;NM_001256196;NM_001256197;NM_001654;U01337;X04790;Z84466 AAA65219;AAB03517;AAB08754;AAH02466;AAH07514;AAV38667;ABM83582;ABM86822;BAD92068;BAE66645;BAG59877;BAG62597;CAA28476;EAW59310;EAW59311;EAW59312;NP_001243125;NP_001243126;NP_001645;P10398 Hs.446641 1657346;1658844;1678731;1685431;1689961;1702190;1793066;1850481;2150920;2218238 ARAF1__4348;G23742;GDB:182582;PMC193924P5;RH79745;RH79877;RH93525;SGC30176;STS-M13829;WI-6972 A-RAF;ARAF1;PKS2;RAFA1 A-Raf proto-oncogene serine/threonine-protein kinase;OTTHUMP00000023212;Oncogene ARAF1;Ras-binding protein DA-Raf;proto-oncogene A-Raf;proto-oncogene A-Raf-1;proto-oncogene Pks;serine/threonine-protein kinase A-Raf;v-raf murine sarcoma 3611 viral oncogene homolog 1 APPROVED protein-coding ENSG00000078061 646 02405 311010 REVIEWED 1344946 ARCN2 archain 2 371 650 2299190 AREGB amphiregulin B 4 4 q13.3 75699657 75709510 + 75480839 75490481 + 6480464;6484113 12743035;2466334;22747683 727738 P15514;Q5U026 AC149643;XM_001125684 P15514;XP_001125684 1670005;1742203;2144341;2165455;2174153 D4S3138;GDB:193666;SHGC-50815;SHGC-59491;SHGC-59548 OTTHUMP00000219196;amphiregulin B protein-coding ENSG00000205595 34509 MODEL 1315077 ARAP2 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008] 4 4 4 p14 36507143 36685553 - 35744017 35922374 - 36067620 36245979 - 1580863;6480464;6907045 9628581;11804589;18615156;17081983;17077126;15815621;12477932;11804590;9847074;20823205;20467438;23295182;22959728;23251661 116984 A7E2A5;D6RAD6;D6RC39;Q8WZ64 AB011152;ABBA01074291;AC098827;AC104078;AC108033;AC109818;AC116623;AF411982;AF439781;AK126864;AMYH01014107;AW274408;AY049733;BC105089;BC105091;BC150258;BX104334;CH471069;NM_015230 AAI05090;AAI05092;AAI50259;AAI60097;AAL04166;AAL12170;AAL32459;AAY40927;BAA25506;EAW92870;EAW92871;EAW92872;NP_056045;Q8WZ64 Hs.479451 1357240;1716405;1728087;1739053;1848845;1848847;2218370;7184810 CENTD1_4556;D21S1261;D4S2701;G63315;RH121383;SHGC-24738;SHGC-50521 CENTD1;FLJ13675;FLJ44916;KIAA0580;PARX Arf and Rho GAP adapter protein 2;OTTHUMP00000123468;arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2;centaurin, delta 1;centaurin-delta-1;cnt-d1 APPROVED protein-coding ENSG00000047365 16924 09439 606645 REVIEWED 1347923 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2008] 5 5 q31.3 141013152 141041984 - 141032968 141061800 - 1580863;6480464;6484113;6907045 11804589;15569923;17314030;15546919;14702039;12832619;12477932;12015138;19786092;21076469;22750419;21987572;21139048;15090612;21963094;23239578;23180820 64411 B4DIT1;G5E9Y3;Q05CH1;Q8WWN8;Q9H7C1 ABBA01026404;ABBA01026405;AC022420;AJ310567;AK001579;AK024718;AK091385;AK290052;AK295768;AMYH01015661;BC009968;BC025757;BC027880;BX489939;CH471062;NM_022481 AAH09968;AAH25757;AAH27880;BAB14973;BAF82741;BAG50942;BAG58593;CAC83946;EAW61904;EAW61905;EAW61906;EAW61907;NP_071926;Q8WWN8 Hs.726187 1340382;1656696;1656698;1675072;1854122;2218998 A004M29;AF022188;AF052687;ARAP3__4349;D5S2010;WI-11093 CENTD3;DRAG1;FLJ21065 ARF-GAP, RHO-GAP, ankyrin repeat and plekstrin homology domains-containing protein 3;Arf and Rho GAP adapter protein 3;OTTHUMP00000160010;OTTHUMP00000224030;OTTHUMP00000224031;PtdIns(3,4,5)P3-binding protein;arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3;centaurin, delta 3;centaurin-delta-3;cnt-d3;phosphoinositide binding protein APPROVED protein-coding ENSG00000120318 24097 09441 606647 REVIEWED 1606063 ARF1P1 ADP-ribosylation factor 1 pseudogene 1 7 7 7 q21.3 89161313 89163790 + 94301018 94303652 + 94463139 94465616 + 6480464 442334 AACC02000013;ABBA01045781;AL157375;AMYH01017697;CH236949;NG_005537 ARF1 pseudo 22500 INFERRED 5130823 ARF1P2 ADP-ribosylation factor 1 pseudogene 2 12 12 120916794 120917329 - 121282915 121283450 - 100420012 ABBA01020139;AC069214;AMYH01004805;NG_024047 2116297;2165705 D12S2073;D4S2372 pseudo 39883 INFERRED 5130838 ARF1P3 ADP-ribosylation factor 1 pseudogene 3 8 8 8 q24.13 121352276 121352788 + 125233346 125368864 + 125164165 125164677 + 442396 ABBA01037890;AC090192;AC090921;AC100871;AMYH01019006;NG_022434 1703516;1749877 SHGC-111604;SHGC-82647 pseudo 39884 INFERRED 1345639 ARF2 ADP-ribosylation factor 2 376 653 1321262 ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 11 11 q13.4 72073762 72115821 - 72396114 72463434 - 2316188;6480464;6484113;6907045 14559250 11804590;11804589;16169070;18165900;18939958;18764928;18003747;17081983;16344560;15489334;12477932;12168954;9872452;15607035;19666464;22357923;20581827;20554524;20889853;21267535;21275903;21832049;20360068;21900206;21139048;21890473;21873549;22446963;19531213;22581228;19380743;22573888 116985 E7EU13;F5GWN4;F5GWQ2;F8WBT0;H0YGD1;Q96HP6 AB018325;ABBA01017533;ABBA01017534;AF411983;AJ621557;AJ706973;AK160383;AMYH01003796;AP003065;AY049732;AY553630;BC008315;BC021244;BC056401;BC140792;BC144562;BQ921498;CD251362;CH471076;DA186424;NM_001040118;NM_001135190;NM_015242 AAH08315;AAH56401;AAI40793;AAI44563;AAL04167;AAL12169;AAT36325;BAA34502;BAD18726;CAF21317;EAW74863;EAW74864;EAW74865;EAW74866;NP_001035207;NP_001128662;NP_056057;Q96P48 Hs.503165 1765247;1782472;1788420;2175645;2183536;2218372 A006F43;CENTD2_4557;D11S1002;SHGC-148738;SHGC-156281;fb93h06.x1 CENTD2;KIAA0782 ARF-GAP, RHO-GAP, ankyrin repeat, and pleckstrin homology domains-containing protein 1;OTTHUMP00000211458;OTTHUMP00000211459;OTTHUMP00000211460;OTTHUMP00000211461;OTTHUMP00000211462;OTTHUMP00000211463;arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1;centaurin, delta 2;centaurin-delta-2;cnt-d2 APPROVED protein-coding ENSG00000186635 16925 09440 606646 REVIEWED 730952 ARC activity-regulated cytoskeleton-associated protein 8 8 8 q24.3 140003980 140007899 - 143689412 143692835 - 143692405 143695833 - 734603;6480464 10196175 17466953;17120280;16189514;15489334;12477932;11117363;10970730;9039502;15103018;21834987;22584581;22036569;21906983;22302811;22622366 23237 Q7LC44 ABBA01029411;ABBA01029412;AC139676;AF193421;AF248637;AI096899;AMYH01019089;AP006547;BC012321;BC075802;BI752734;CH471162;D87468;HI574238;NM_015193 AAF07185;AAG33705;AAH12321;AAH75802;ABM84592;ABM86706;BAA19667;CBX47608;EAW82320;EAW82321;NP_056008;Q7LC44 Hs.40888;Hs.743662 1795380;2147450 ARC_303;SGC31190 Arg3.1;KIAA0278 ARC/ARG3.1;OTTHUMP00000165993;activity-regulated cytoskeleton-associated protein;activity-regulated gene 3.1 protein homolog protein-coding 648 12469 612461;614937 VALIDATED 1348063 ARF4P1 ADP-ribosylation factor 4 pseudogene 1 9 9 9 q34 107491974 107493090 + 135933847 135934389 + 136943753 136944869 + 2107548 380 ABBA01021992;AC000387;AL591386;AMYH01021818;M31889;NG_001075 ARF4P APPROVED pseudo 657 INFERRED 1345760 AREG amphiregulin The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells, and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). This protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells and inhibits the growth of certain aggressive carcinoma cell lines. This encoded protein is associated with a psoriasis-like skin phenotype. [provided by RefSeq, Jul 2008] 4 4 q13.3 75529717 75539590 + 75310853 75320726 + 1578719;1578721;1580863;1578718;2289950;2292662;2292664;2292660;2292661;2292663;2289980;2292658;2292659;2292665;2292668;2317963;6480464;6484113;6907045 15955087;12370739;15509566;16962163;11133810;8543395;11523048;11507076;10225449;16469638;16438846;14716741;18421211;8621257;15982853 2466334;12743035;3413110;19587163;19494503;19344731;18955794;18946024;18835871;18811692;18325497;18045238;17962208;17960400;17942395;17548638;17525275;17035230;16888076;16713569;16641105;16470170;16336275;16213893;16207795;16088955;15767261;15735670;15696083;15696081;15685553;15489334;15474502;15284208;15254267;15186320;14633617;12711607;12568494;12477932;12356750;11942969;11859273;11719440;11494130;11469683;11038170;22395988;10490105;10424781;10389762;10085134;9410906;7698025;2325643;2234093;2017164;1333777;21245963;20428186;20651357;21454516;18560449;19070973;19337692;19609315;19735466;19825997;19895983;19915156;19935651;20103632;20237496;20726858;22641668;20719813;20628624;20651071;21036386;20567134;20856199;21377153;20811902;21298020;21439861;22570239;19003995;21917092;22825057;21514161;21742971;21258428;21653755;21302279;21161326;22425981;22438584;22445895;22747683;21906983;23430747;23285165;21832049;22581387;22967896 374 D6RFX5;P15514;Q5U026 ABBA01022994;AC021180;AMYH01014303;AY442340;BC009799;BC146953;BC146967;BT019866;CH471057;M30698;M30699;M30700;M30701;M30702;M30703;M30704;NM_001657 AAA51773;AAA51781;AAH09799;AAI46954;AAI46968;AAR05438;AAV38669;ABM83816;ABM87136;EAX05710;NP_001648;P15514 Hs.270833 1670005;1742203;2144341;2165455;2174153 D4S3138;GDB:193666;SHGC-50815;SHGC-59491;SHGC-59548 AR;AREGB;CRDGF;MGC13647;SDGF OTTHUMP00000160473;OTTHUMP00000219184;amphiregulin;colorectum cell-derived growth factor;schwannoma-derived growth factor APPROVED protein-coding ENSG00000109321 651 00093 104640 REVIEWED 1351076 ARF4P2 ADP-ribosylation factor 4 pseudogene 2 20 20 20 q13.33 58179363 58180664 - 60973947 60974973 - 61503331 61504632 - 170485 ABBA01021375;AL035669;AMYH01012065;NG_001031 dJ885L7.7 pseudo 16599 INFERRED 1602801 ARF4P3 ADP-ribosylation factor 4 pseudogene 3 13 13 13 q32.3 82251832 82253602 - 100202049 100209718 - 101407646 101409416 - 390423 ABBA01027085;AL356732;AMYH01005336;CH471085;NG_008359 EAX09044 1658200 D3S3904 pseudo 32380 INFERRED 2792834 ARF4P5 ADP-ribosylation factor 4 pseudogene 5 1 1 p31.1 82289299 82290194 + 84038401 84039296 + 100316867 ABBA01045664;AC098654;AMYH01000747;NG_016179 pseudo 37629 INFERRED 1344658 ARCN1 archain 1 This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 115603886 115634520 + 117948321 117978855 + 118443102 118473748 + 1580863;6480464 12477932;12388752;8940050;8854871;8355790;1898986;10921873;9482852;16956762;7782067;11031247;8533093;8599108;16344560;15489334;19615732;8858162;21832049;22863883;22939629;16196087;22750876;20360068;21139048;21890473;21906983;9751720;21963094;22623428;23000965;23300798;14729954;22053931;22505724 372 B0YIW5;B0YIW6;E9PK34;P48444 AA856562;ABBA01039702;ABBA01039703;AK304019;AK312298;AMYH01004071;AP000941;AU125652;BC064936;BC080638;BC093636;BC093638;BI560739;BQ018687;BX640860;CH471065;CR988766;DB216489;EF444951;NM_001142281;NM_001655;X81197 AAH64936;AAH93636;AAH93638;ACA05943;ACA05944;BAG35225;BAG64934;CAA57071;CAE45922;EAW67397;EAW67398;EAW67399;NP_001135753;NP_001646;P48444 Hs.33642 1654587;1706252;1725761;2131558;2191203;5022578;5037552 D1S1423;D8S2279;G62126;HSC26A042;MARC_16122-16123:1018032385:1;SHGC-80669;WI-12394 COPD OTTHUMP00000232677;OTTHUMP00000232678;OTTHUMP00000232680;archain vesicle transport protein 1;coatomer delta subunit;coatomer protein complex, subunit delta;coatomer protein delta-COP;coatomer subunit delta;delta-COP;delta-coat protein APPROVED protein-coding ENSG00000095139 649 02893 600820 REVIEWED 2798791 ARF4P4 ADP-ribosylation factor 4 pseudogene 4 13 13 13 q31.1 62357503 62364825 + 80353699 80361021 + 81455698 81463020 + 100129023 ABBA01021709;AL590807;AMYH01005238;NG_016164 pseudo 37628 INFERRED 1316884 AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 14 14 14 q24.3 55166339 55218171 - 74197708 74249560 - 75127955 75179807 - 1580863;6480464 15489334;12508121;12477932;9205841;20379614;21139048;22939624;23479728 9870 G3V245;G3V2B5;G3V506;G3V5P7;H0YJ67;H0YJ69;H0YJF1;H0YJK5;O15033 AB002315;ABBA01030714;AC007956;AK296912;AK304217;AMYH01005857;BC032944;BI459956;BX248747;CH471061;NM_001039479 AAF61276;AAH32944;BAA20775;BAG59467;BAG65089;CAD66554;EAW81186;NP_001034568;O15033 Hs.497417 1649547;1677032;1679906;1682966;2180775 D14S1302;RH80624;RH91392;RH91897;WI-11347 KIAA0317 OTTHUMP00000205819;OTTHUMP00000246138;apoptosis-resistant E3 ubiquitin protein ligase 1;hypothetical protein LOC9870;protein KIAA0317 APPROVED protein-coding ENSG00000119682 20363 13794 VALIDATED 1353880 ARF1 ADP-ribosylation factor 1 ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2 and ARF3), class II (ARF4 and ARF5) and class III (ARF6), and members of each class share a common gene organization. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q42 226336984 226353536 + 228270361 228286913 + 6480464;6484113;6907045 1577740;9819391;14654833;14690595;8529647;16956762;11031247;8533093;8599108;10402461;15202998;19141284;18990689;18693248;18689681;18597672;18551169;17981261;17693410;17555535;17451557;17112341;16912072;16710414;16669702;16545942;16381901;16341674;16308272;16169070;15876864;15814706;15793564;15684379;15680326;15581351;15489336;15489334;15336557;15308674;15107860;14676827;14665636;14636574;12799371;12636914;12519790;12509462;12477932;11926829;11914273;11726511;11707398;11703931;11301005;11297540;11278939;11076863;10921873;10858454;10828067;10801846;10749932;10747863;10747089;10720466;10623590;10589680;10318838;15781476;21454700;10212218;10102276;10022920;9756891;9733781;9688545;9653114;9417041;9197239;9110174;9038142;8661066;8619474;8288610;7990966;7990146;7898460;7552752;2474826;2105501;1899243;1680566;11373276;21319273;21068255;15944734;14654841;20457610;11252894;11694590;16223492;17347647;19359423;19596022;20164217;20214751;20228810;20861011;20529868;20089835;22939629;22962618;20881058;21478909;21789191;16196087;21844371;20360068;21893600;15143060;22359663;21139048;21890473;21906983;21963094;10198630;18781797;22025613;22158626;22291037;21628590;22348287;8861955;19738201;19805454;21988832;22304920;22623428;23000965;23415225;19149577;21853274;21917951;22053931;22797925;22952844;22573888;22573891 375 P84077 ABBA01005829;ABBA01005830;AF052179;AF055002;AF493881;AK000620;AK057838;AK057875;AK130737;AK293553;AK296020;AK297792;AL136379;AMYH01001791;BC009247;BC010415;BC010429;BC011358;BF337061;BG421840;BM353046;BM844480;BQ935470;BQ949763;BT007393;CH471098;M36340;M84326;M84327;M84332;NM_001024226;NM_001024227;NM_001024228;NM_001658 AAA35511;AAA35512;AAA35552;AAC09356;AAC28623;AAH09247;AAH10429;AAH11358;AAM12595;AAP36057;BAG57030;BAG58790;BAG60132;CAL38139;CAL38339;CAL38472;CAL38588;EAW69831;EAW69832;EAW69833;EAW69834;EAW69835;EAW69836;NP_001019397;NP_001019398;NP_001019399;NP_001649;P84077 Hs.286221 1660877;1677110;1677112;1686678;1795382 ARF1_1579;D1S3252;RH64921;RH79647;RH80951 ADP-ribosylation factor 1;OTTHUMP00000035715 APPROVED protein-coding ENSG00000143761 652 00054 103180 REVIEWED 1354397 ARF3 ADP-ribosylation factor 3 ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. The ARF3 gene contains five exons and four introns. [provided by RefSeq, Jul 2008] 12 12 q13 47616259 47637577 - 49329992 49351252 - 6480464 8947846;1744102;16713569;16396496;15489334;12477932;12135740;12090300;10828067;10749927;10623590;10506747;10413101;9038142;8661066;8491770;8473323;8355790;2474826;2105501;1577740;1447192;12221117;11124697;22586326;20357002;19913121;20628086;22939629;19135240;18781797;20360068;21906983;14690499;19322201;22505724 377 B7ZB63;F5H0C7;F5H1V1;F5H423;F5H6T5;P61204 ABBA01031494;ABBA01031495;AC073610;AF493882;AK291633;AK303726;AK316528;AMYH01004436;BC007647;BC007762;BC017565;BC028402;BM966960;BT006670;CH471111;M74491;M74492;M74493;NM_001659 AAA58359;AAB59425;AAH07647;AAH07762;AAH17565;AAH28402;AAM12596;AAP35316;ACE87829;ACT64578;BAF84322;BAG64702;BAH14899;EAW58025;EAW58026;EAW58027;NP_001650;P61204 Hs.119177 1645937;1795384;1797294;2118763;2177219;2178572;2182576 ARF3_53;ARF3_53.2;G10609;RH46941;SGC30712;STS-M79003;WI-7107 ADP-ribosylation factor 3;OTTHUMP00000165241;OTTHUMP00000237838;OTTHUMP00000237839;OTTHUMP00000237840;small GTP binding protein APPROVED protein-coding ENSG00000134287 654 00056 103190 REVIEWED 1352328 ARF4 ADP-ribosylation factor 4 This gene is a member of the human ARF gene family whose members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I, class II and class III; this gene is a class II member. The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. This gene is the most divergent member of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene. [provided by RefSeq, Jul 2008] 3 3 p21.2-p21.1 57532130 57558118 - 57557090 57583215 - 1580863;6480464 2107548;19041174;16344560;15489334;15049518;12477932;12446727;11481332;10828067;10593962;10524252;10099884;9180902;8491770;8355790;7956370;2105501;1899243;1447192;19615732;20881058;17314511;19167051;20360068;22004728;22105072;18781797;21139048;21890473;21906983;22185782;19322201;21145461;21319273;21963094;21988832;22304920;21853274;22952844 378 C9J6P1;C9JAK5;C9JPM4;F8WCJ5;F8WDB3;P18085 ABBA01024413;ABBA01024414;AC092418;AC114480;AF104238;AF493883;AK313008;AMYH01013223;BC003364;BC008753;BC016325;BC022866;CH471055;DA259855;M36341;NM_001660;U91920;U91921 AAA53081;AAD54674;AAH03364;AAH08753;AAH16325;AAH22866;AAM12597;ABM85008;ABW03653;BAG35844;EAW65344;NP_001651;P18085 Hs.652183 1658200;1740229;1740235;1788756;1795386;2112606;2135882;2151080;7186210 ARF4_55;D3S1623;D3S1637;D3S3904;D3S4365;HUMD2F08NC;RH129652;RH69960 ARF2 ADP-ribosylation factor 2;ADP-ribosylation factor 4;OTTHUMP00000213140;OTTHUMP00000213142;OTTHUMP00000213211 APPROVED protein-coding ENSG00000168374 655 03107 601177 REVIEWED 732462 ARF5 ADP-ribosylation factor 5 This gene is a member of the human ADP-ribosylation factor (ARF) gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. [provided by RefSeq, Dec 2010] 7 7 q31.3 127015753 127018988 + 127228406 127231759 + 6480464;6484113 1993656;15489334;12690205;12477932;11926829;11535061;10828067;10749932;10593962;10589680;10022920;9169151;9038142;8491770;8355790;2105501;1447192;11478794;17030804;15146197;17567994;23532257;16396496;22360420;21139048;21890473;21906983;22105072;22185782;19322201;18685082;21963094;22623428;16148947;21853274;22815487;22573888 381 A4D0Z3;C9J1Z8;P84085 AACC02000001;ABBA01057684;AC000357;AF493884;AK297026;AK307297;AK308548;AK312107;AMYH01017911;BC003043;BC033104;BT007087;CH236947;CH471070;CN259625;M57567;NM_001662;U73002 AAA90927;AAC51299;AAH03043;AAH33104;AAM12598;AAP35750;BAG35043;BAG59555;EAL24320;EAW83630;EAW83631;NP_001653;P84085 Hs.653202 1661510;1801082;1814786;1816142;1822734;1824976;1825998;1831878;2088786;2088788;2088790;2088792;2088794;2088796;2088798;2088800;2088802;2088804;2088806;2088808;2088810;2088812;2088814;2088816;2088818;2088820;2088822;2088824;2088826;2088828;2088830;2088832;2118210;2122371;2196926;2196928;2196930;5095122;5491615 ARF5;D7S2378;D7S2779;ECD01410;ECD08424;ECD09111;ECD12455;ECD13587;ECD14108;ECD17077;MARC_26030-26031:1032381284:1;REN115652;REN115653;REN115654;REN115655;REN115656;REN115657;REN115658;REN115659;REN115660;REN115661;REN115662;REN115663;REN115664;REN115665;REN115666;REN115667;REN115668;REN115669;REN115670;REN115671;REN115672;REN115673;REN115674;REN115675;RH69260;stSG613722;stSG613724;stSG613725 ADP-ribosylation factor 5;OTTHUMP00000024864;OTTHUMP00000196795 APPROVED protein-coding ENSG00000004059 658 00055 103188 REVIEWED 1314646 ARFGAP2 ADP-ribosylation factor GTPase activating protein 2 11 11 11 p11.2-p11.12 47325090 47337647 - 47142428 47154995 - 47185849 47198676 - 1580863;6480464;6907045 19299515;19015319;17760859;16903783;15489334;14702039;14690497;12880961;12477932;11278321;16341674;18029348;20858901;21182205;21139048;21890473;22375848;23383273 84364 B4DX29;B7Z9M7;E9PIY6;E9PJT7;E9PK28;E9PM18;E9PM63;E9PMR9;E9PMU9;E9PN48;E9PNY8;E9PQP3;G5E9L0;H0YCA3;H0YCL1;H0YDN9;H0YDX1;H0YF45;Q8N6H7 AB073358;ABBA01060721;AC090589;AK027482;AK098324;AK129511;AK300347;AK301785;AK304541;AK315992;AL834337;AMYH01003539;AMYH01003540;BC030148;BC036823;BM827445;CD366084;CH471064;NM_001242832;NM_032389 AAH30148;ACE86922;ACE87609;BAB55144;BAE45716;BAG53612;BAG63241;BAG65339;BAH13265;BAH14363;CAD39004;EAW67963;EAW67964;EAW67965;EAW67966;EAW67967;EAW67968;NP_001229761;NP_115765;Q8N6H7 Hs.436204 1650971;1679706;1686570;2134341;2161404;2191007;5114561;5491407 D11S3969;D11S4059;G09831;MARC_10267-10268:998918113:1;MARC_12871-12872:1000494470:1;RH10546;RH98304;T03584 FLJ14576;FLJ26000;IRZ;Nbla10535;ZNF289;Zfp289 ADP-ribosylation factor GTPase-activating protein 2;ARF GAP 2;GTPase-activating protein ZNF289;OTTHUMP00000234176;OTTHUMP00000234226;putative protein product of Nbla10535;zinc finger protein 289, ID1 regulated protein-coding ENSG00000149182 13504 06069 606908 VALIDATED 734181 ARF6 ADP-ribosylation factor 6 This gene encodes a member of the human ARF gene family, which is part of the RAS superfamily. The ARF genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The product of this gene is localized to the plasma membrane, and regulates vesicular trafficking, remodelling of membrane lipids, and signaling pathways that lead to actin remodeling. A pseudogene of this gene is located on chromosome 7. [provided by RefSeq, Jul 2008] 14 14 q21.3 49429486 49433522 + 50359736 50363772 + 6480464;6484113;6907045 15489334;15231847;15210957;15087504;14675422;14662749;14659046;14625293;14607973;12902467;12860984;12847086;12799371;12526811;12477932;12379803;12032069;12016212;11926829;11867621;11535061;11533043;11278939;11266366;11042152;10749932;10589680;10343114;10022920;9653160;9461590;9417041;8491770;8355790;7990966;7898460;7855600;7589240;2105501;15465916;14617802;15638726;10913182;1993656;9312003;10036235;8702973;19327867;19276089;19264606;19211056;19155310;19033387;18814847;18597672;18326492;18094045;18084281;18000860;17719203;17640372;17628206;17623778;17461797;17157409;17122362;17077126;16737952;16669702;16545942;16527809;16484220;16461286;16344560;16341674;16213822;16099990;15897187;15817676;15802264;15590645;21346189;11478794;12509462;17353931;10480924;22219378;22558309;22523074;22666423;20727515;15509780;16148947;16415858;17030804;17643375;18511905;19359423;19365558;19642173;19644450;19666113;19738201;19855388;19948740;20018626;20089652;20385769;20510928;20462959;20029029;20601426;20709080;22226746;20525696;20848231;21148312;20713492;20945365;14978216;21832049;22916275;22962618;23383273;21634118;17398095;21439824;21438025;21790911;21858086;21795701;22085542;22522702;22580824;21139048;21890473;21906983;22188517;22170068;18199687;18685082;22781129;22053287;23095975;21963094;22931251;23000965;23295182;23603394;19149577;20622010;21853274;21917951;22701712 382 P62330 ABBA01018124;AF047432;AF493885;AK313790;AL117621;AL121163;AL627171;AMYH01005716;AY296206;BC002952;BC008918;BC030291;BM838197;BT019868;CH471078;CR541939;CR541964;DA217686;M57763;NM_001663 AAA90928;AAC39877;AAH08918;AAM12599;AAP50257;AAV38671;BAG36527;CAG46737;CAG46762;EAW65740;NP_001654;P62330 Hs.525330;Hs.719973 1738943;1769645;1795388;2152210;2182960;5124381 ARF6_719;D14S793;RH80260;SHGC-2638;SHGC-64115;SHGC-64342 DKFZp564M0264 ADP-ribosylation factor 6;OTTHUMP00000178980 APPROVED protein-coding 659 02714 600464 REVIEWED 1348298 ARFGEF1 ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011] 8 8 q13 68272451 68418466 - 68109884 68255912 - 1580863;6480464 15644318;10212200;19020088;18417613;18292223;18203920;18003980;17360629;17227842;17081983;17079330;16467138;14973189;14702039;12606707;11013081;10393931;8917509;8889548;10716990;12571360;18832381;19651892;20379614;16417406;20818722;20668708;21871176;18029348;22084092;21139048;21890473;23000965;23386609;23220274;22190034 10565 E5RHL7;E5RHZ1;E5RIF2;E5RJB2;E5RJN9;Q9Y6D6 AB209324;ABBA01041894;ABBA01041895;ABBA01041896;ABBA01041897;ABBA01041898;AC021321;AC087359;AF084520;AF111162;AI523655;AI692863;AI797683;AK001788;AK022557;AK025637;AK123660;AK127799;AL117446;AMYH01018777;BE048435;CA314908;CH471068;NM_006421 AAD38427;AAD43651;AAI72243;BAA91912;BAD92561;BAG51091;CAB55931;EAW86935;EAW86936;NP_006412;Q9Y6D6 Hs.656902 1657544;1667989;1683317;1689035;1722041;1724981;1735772;2108697;2128723;2154165;2171510;2187237;5092888 A009B39;ARFGEF1_9142;D8S1378E;G06218;G17212;G32393;G59907;L17871;RH118724;RH36443;RH91158;RH93991;WIAF-2084 ARFGEP1;BIG1;D730028O18Rik;DKFZP434L057;P200 ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited);OTTHUMP00000227052;OTTHUMP00000227095;brefeldin A-inhibited GEP 1;brefeldin A-inhibited guanine nucleotide-exchange protein 1;p200 ARF guanine nucleotide exchange factor;p200 ARF-GEP1 APPROVED protein-coding ENSG00000066777 15772 09163 604141 REVIEWED 1352175 ARFGAP1 ADP-ribosylation factor GTPase activating protein 1 The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 q13.33 61374610 61391587 + 61904165 61921142 + 1580863;6480464;6484113;6907045 16956762;11031247;8533093;19299515;19055691;19015319;18541532;16964243;16571680;16316994;15790807;15489334;15302935;15246431;14702039;12477932;12379802;12181329;11780052;11703931;11210549;10704287;9733781;9476900;9405360;8125298;7969419;16169070;21499258;17207965;21832049;22863883;22423108;21900206;19338310;21963094;21988832;21139048;21906983;18029348;22363216 55738 B7Z8H8;E5RGL6;E5RHC5;E5RHH7;E5RHT6;E5RIU2;E7EV62;F8VWB3;F8VWH9;F8W1U7;H0YIQ0;Q9UIL0 AA565406;AB015340;ABBA01021393;AK001629;AK027268;AK027441;AK095048;AK123367;AK223427;AK296351;AK303454;AK308161;AL121827;AL137744;AMYH01012075;AMYH01012076;AY927573;BC000786;BC006085;BC011876;BC028233;BC127893;BQ717837;CH471077;DC300118;DC404137;NM_001281482;NM_001281483;NM_001281484;NM_018209;NM_175609;NR_104022;NR_104023 AAH00786;AAH06085;AAH11876;AAH28233;ADQ31806;BAA88117;BAA91796;BAB55009;BAB55113;BAD97147;BAH12326;BAH13964;CAB70901;EAW75290;EAW75291;EAW75292;EAW75293;EAW75294;EAW75295;EAW75296;NP_001268411;NP_001268412;NP_001268413;NP_060679;NP_783202;Q8N6T3 Hs.25584 2219000 ARFGAP1__4350 ARF1GAP;HRIHFB2281;MGC39924 ADP-ribosylation factor 1 GTPase activating protein;ADP-ribosylation factor 1 GTPase-activating protein;ADP-ribosylation factor GTPase-activating protein 1;ARF GAP 1;ARF1 GAP;ARF1-directed GTPase-activating protein;GAP protein;OTTHUMP00000031551;OTTHUMP00000196668;OTTHUMP00000196669;OTTHUMP00000226307;OTTHUMP00000226309;OTTHUMP00000226310;OTTHUMP00000243517 APPROVED protein-coding ENSG00000101199 15852 06443 608377 REVIEWED 736641 ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008] 20 20 q13.13 46971682 47086637 + 47538275 47653230 + 1300288;1580863;6480464;7240710 14647276 10212200;12571360;18625701;18417613;18003980;17360629;17276987;17081983;16320251;15705715;15302935;15231748;14702039;12477932;12051703;11780052;11777925;11665623;11013081;10716990;18832381;12606707;15198677;18203920;19384555;20360857;21309479;22863883;16866877;15385626;16477018;21890473;23383273;21139048;22623531;23386609;22190034;22908276 10564 Q59FR3;Q86TH5;Q9Y6D5 AB209397;ABBA01052729;ABBA01052730;AF084521;AK022623;AK074303;AK302526;AL049537;AL121903;AMYH01011960;AMYH01011961;AMYH01011962;BC050449;BC144625;BC144626;CH471077;NG_011490;NM_006420 AAD38428;AAH50449;BAD92634;BAG51099;BAG63799;EAW75680;EAW75681;NP_006411;Q9Y6D5 Hs.62578 1645537;1655985;1660323;1671139;2148054;2177431;2184527;5022200;5022578 AL030970;AL031485;D1S1423;G18085;L18426;SHGC-52869;SHGC-64065;STS-R64296;WI-17563 BIG2;FLJ23723;PVNH2;dJ1164I10.1 OTTHUMP00000031231;brefeldin A-inhibited GEP 2;brefeldin A-inhibited guanine nucleotide-exchange protein 2 APPROVED protein-coding ENSG00000124198 15853 09250 605371;608097 REVIEWED 1605759 ARGFX arginine-fifty homeobox Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008] 3 3 3 q13.33 119696469 119719151 + 122769468 122792159 + 121286778 121309469 + 17005330;20565723 503582 A6NJG6 ABBA01016481;AC069239;AMYH01013425;BX282631;NM_001012659 A6NJG6;NP_001012677 Hs.224976 5015404;5015619;5015861;5020946;5021228;5021872;5022578;5024413;5037552;5117897;5118444;5118800;5120437;7185938 D10S16;D11S3114;D11S3316;D11S3663;D1S1423;D8S2279;GDB:312794;GDB:315881;GDB:631813;L17705;L17877;L17971;sY3084 OTTHUMP00000215153;arginine-fifty homeobox APPROVED protein-coding 30146 18525 611164 VALIDATED 1344539 ARFGAP3 ADP-ribosylation factor GTPase activating protein 3 The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008] 22 22 22 q13.2 27103053 27163910 - 41522476 41583244 - 43192532 43253408 - 1580863;6480464;6907045 11172815;18029348;19299515;19015319;17760859;17081983;15761153;15489334;15461802;14702039;12529303;12477932;10704287;10591208;8076819;21832049;20379614;21139048;21890473;21647875 26286 B0QYV8;B0QYV9;C9JZR4;H0Y6A0;Q9NP61 ABBA01017923;ABBA01017924;AF111847;AK002083;AK022768;AK127525;AK297635;AK300531;AK307967;AK315720;AL049757;AL049758;AL137598;AL159143;AMYH01012823;BC005122;BC041383;BI547713;BQ019944;CA431867;CH471138;CR456382;DB458974;NM_001142293;NM_014570 AAF40310;AAH05122;ABM83933;ABM87252;BAA92076;BAB14236;BAH12636;BAH13298;CAB70834;CAB76901;CAG30268;CAK54371;CAK54670;EAW73275;EAW73276;NP_001135765;NP_055385;Q9NP61 Hs.685225 1657911;1687518;2142428;2142832;2219002;5019643;5022322;5022651;5037552;5109281 A006B18;ARFGAP3__4351;D11S2560;D11S2921;D1S1425;D8S2279;G06276;G29271;G32316;RH91173 ARFGAP1;FLJ45618 ADP-ribosylation factor GTPase activating protein 1;ADP-ribosylation factor GTPase-activating protein 3;ARF GAP 3;OTTHUMP00000198439;OTTHUMP00000221483 APPROVED protein-coding ENSG00000242247 661 06444 612439 REVIEWED 1605758 ARGFXP1 arginine-fifty homeobox pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008] 5 5 5 q23.2 117966257 117971118 + 122039194 122044258 + 122011396 122016260 + 17005330 503583 ABBA01068951;AC093267;AMYH01015587;NG_004853 1644390 D5S2313 APPROVED pseudo 17252 INFERRED 1602609 ARGFXP2 arginine-fifty homeobox pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 27388246 27389460 - 27501489 27502703 - 30477376 30478590 - 17005330 503640 AA613199;ABBA01000704;AC116407;AMYH01008331;NR_002222 Hs.631752 APPROVED pseudo 23977 PROVISIONAL 1349532 ARFIP2 ADP-ribosylation factor interacting protein 2 11 11 11 p15 6615970 6621655 - 6453486 6459171 - 6495913 6502709 - 1580863;6480464;6484113 15809304;8670882;9312003;16189514;15489334;12477932;11854752;11478794;11346801;9038142;12972563;22679020;22558309;22863883;16344560;21832049;21139048;11792819 23647 B4DUZ3;B4DXH2;E9PPY7;E9PRV8;P53365 ABBA01028669;AC084337;AK026390;AK300855;AK301856;AK301972;AK304512;AK309198;AK310267;AK310833;AK311004;AK311086;AK311655;AMYH01003367;AW612115;BC000392;BG745048;BM928413;BU627585;CH471064;DB099222;NM_001242854;NM_001242855;NM_001242856;NM_012402;U52522;X97567 AAA97924;AAH00392;ABM82893;ABM86082;BAG62505;BAG63298;BAG63384;BAG65318;CAA66179;EAW68707;EAW68708;NP_001229783;NP_001229784;NP_001229785;NP_036534;P53365 Hs.732203;Hs.75139 1667454;1699180;2114624;2126269;2152826;5022200;5022651 D11S2921;IB2126;L18426;RH103170;RH11646;STS-Z40796;WI-22461 FLJ18046;FLJ18697;FLJ99239;POR1 ADP-ribosylation factor-interacting protein 2;OTTHUMP00000164590;OTTHUMP00000231513;arfaptin 2;arfaptin-2;partner of RAC1 (arfaptin 2) protein-coding 17160 07209 601638 VALIDATED 732747 ARFIP1 ADP-ribosylation factor interacting protein 1 4 4 4 q31.3 151025104 151157752 + 153920562 154052514 + 153701112 153833064 + 1580863;6480464 12606037;9038142;16396496;15489334;15146197;14702039;12477932;11337467;10413101;9694811;16712791;22863883;21110914;22118674;21890473;21906983;21628590 27236 B4DS69;B4E273;P53367 ABBA01070127;ABBA01070128;AC099339;AC106882;AC113155;AF124489;AK096509;AK290472;AK299600;AK304141;AK316125;AMYH01014624;AMYH01014625;AU099007;BC103759;BC105114;BC105116;BC143675;BC143676;CB127228;CH471056;CN305403;NM_001025593;NM_001025595;NM_014447;U52521 AAA97923;AAD29390;AAI03760;AAI05115;AAI05117;AAI43676;AAI43677;BAC04806;BAF83161;BAG61531;BAG65035;BAH14496;EAX04968;EAX04969;EAX04970;EAX04971;EAX04972;NP_001020764;NP_001020766;NP_055262;P53367 Hs.416089 1339232;1686104;1687285;1848936;7186915 D4S1058;D4S1588;RH98783;SHGC-67318 HSU52521;MGC117369 ADP-ribosylation factor-interacting protein 1;OTTHUMP00000220280;OTTHUMP00000220282;OTTHUMP00000220283;arfaptin 1;arfaptin-1 protein-coding ENSG00000164144 21496 09331 605928 VALIDATED 732355 ARFRP1 ADP-ribosylation factor related protein 1 The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012] 20 20 20 q13.3 59014256 59023609 - 61801253 61809809 - 62329995 62339365 - 727256;1580863;6480464 8530503 15489334;17127620;16129887;15761153;11438518;15077113;14702039;12477932;11780052;10655513;10092663;19224922;22505585 10139 B7ZKY8;H0Y2L5;Q13795 ABBA01021416;AF217796;AK095962;AL121845;AL522492;AL533893;AL833084;AMYH01012089;AMYH01012090;AW139294;BC021023;BC092480;BC093967;BC143447;BC143448;BC143467;BC143472;BC143477;BI524032;BI711667;BI819763;BM546222;BM549361;BP384879;BT019624;BT019663;BU526941;BX342690;BX342805;BX463457;CA489361;CH471077;CR456752;NM_001134758;NM_001267544;NM_001267545;NM_001267546;NM_001267547;NM_001267548;NM_001267549;NM_003224;NR_051954;NR_051955;NR_051956;NR_051957;NR_051958;X91504 AAF35246;AAH92480;AAH93967;AAI43448;AAI43449;AAI43468;AAV38430;AAV38469;BAG53176;CAA62804;CAG33033;EAW75230;EAW75231;EAW75232;EAW75233;EAW75234;EAW75235;EAW75236;EAW75237;NP_001128230;NP_001254473;NP_001254474;NP_001254475;NP_001254476;NP_001254477;NP_001254478;NP_003215;Q13795 Hs.389277 2108587;2144442 SHGC-64071;TNFRSF6B_2708 ARL18;ARP;Arp1 ADP-ribosylation factor-related protein 1;ARF-related protein 1;OTTHUMP00000031584;SCG10 like-protein;helicase-like protein NHL APPROVED protein-coding ENSG00000101246 662 05264 604699 REVIEWED 1353986 ARG1 arginase 1 Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 6 6 q23 131936058 131947161 + 131894344 131905472 + 1580863;1599208;1599211;2300098;4143185;4143230;4142795;4143187;631755;70249;4143282;4142796;634666;4144054;4144044;4142834;4142848;4143279;631989;1626298;4140476;4143368;1626296;5129205;5129207;6480464;6484113;6907045;7240710 7649538;16872590;4062872;17023552;15916970;20697209;12813022;12470967;11779202;18552509;20593143;12069499;9688940;12654563;18475148;17967788;19666777;12371970;11931836;17210712;17365572;17223136;20124949;16387594 3540966;19303401;19286931;19281908;19258923;19253371;18957279;18617639;17934065;17703412;17469833;17369504;17347269;17255300;17119118;17113085;16720041;16709958;15998894;15489334;14702039;14574404;12477932;12139964;12115381;12083807;11849441;11750286;11224628;10542097;10502833;9686347;3752085;3658675;3174433;2913054;2365823;2241902;1598908;1463019;22298472;21217072;21330347;18478052;19101531;19282757;19293328;19431148;19508396;19615732;19636440;19684035;19687346;19789190;19801451;19896478;19936428;20032293;20153713;20473875;20503287;20200399;20661013;19913121;20628086;20851928;21039601;19713467;20562859;20711410;20301338;20942574;21552555;21206033;21988832;23505904;11329013;21800051;21870783;21182205;21533769;19052914;21139048;21945700;22118674;23454751;22189190;22145905;21704615;22827286;23061982;22582175;22959135;23111165;22869115 383 P05089 ABBA01025891;AK128314;AL121575;AMYH01016674;AW236349;AY074488;BC005321;BC020653;BG217880;BG542163;BT006741;CH471051;M14502;NG_007086;NG_031860;NM_000045;NM_001244438;X12662 AAA51776;AAH05321;AAH20653;AAL71547;AAP35387;ABM82965;ABM86156;CAA31188;EAW48053;EAW48054;EAW48055;EAW48056;NP_000036;NP_001231367;P05089 Hs.440934 1668724;1674328;1742075;1742431;1852440;2140260 GDB:190876;GDB:196989;RH46810;SGC38314;SHGC-16174;STS-M14502 OTTHUMP00000017209;OTTHUMP00000017210;OTTHUMP00000017211;arginase 1;arginase-1;liver-type arginase;type I arginase APPROVED protein-coding ENSG00000118520 663 01947 207800;608313 REVIEWED 732329 ARG2 arginase 2 Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exists (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type II isoform encoded by this gene, is located in the mitochondria and expressed in extra-hepatic tissues, especially kidney. The physiologic role of this isoform is poorly understood; it is thought to play a role in nitric oxide and polyamine metabolism. Transcript variants of the type II gene resulting from the use of alternative polyadenylation sites have been described. [provided by RefSeq, Jul 2008] 14 14 q24.1 67156332 67188190 + 68086579 68118437 + 734607;1580863;1300048;1626297;1626296;1626298;4143269;631989;4143187;4144054;4142834;4143274;4144088;4143282;4110828;5129207;5129205;4143278;6480464;6902923;6907045 9686347;9635249;17223136;11931836;12841630;12371970;12813022;9688940;18475148;20699748;19764983;18552509;16809898;16387594;20124949;20039818;21926276 9144563;8898077;19281908;18528866;18348861;18202758;17353439;16720041;16675494;16128822;15955070;15489334;15364894;12859189;12477932;11849441;11370664;9256072;8954792;21130456;19284655;19508396;19636440;19684035;19789190;19801451;20071203;20542107;20861464;20877624;21039601;20107769;20711410;20853600;22447968;22008221;23424623;22815199;22157935;22391327;21139048;22712848;23122700 384 P78540 ABBA01023707;AK312484;AL049779;AL132640;AL135439;AMYH01005815;AMYH01005816;AY074489;BC001350;BC008464;BC029050;CH471061;CR536550;D86724;HI574250;NG_011964;NM_001172;U75667;U82256 AAB39855;AAC51664;AAH01350;AAH08464;AAH29050;AAL71548;BAA13158;BAG35387;CAG38787;CBX47614;EAW80943;EAW80944;NP_001163;P78540 Hs.226007 1651497;1660435;1661399;1736444;1736472;1754183;1777644;1851799;2115946;2133381;2149917 A007B39;D14S1294;D14S707E;D14S721E;G35422;G36051;RH44731;RH68231;SHGC-132208;WI-18578;WI-19297 L-arginine amidinohydrolase;L-arginine ureahydrolase;OTTHUMP00000246880;arginase 2;arginase, type II;arginase-2, mitochondrial;kidney arginase;kidney-type arginase;non-hepatic arginase;nonhepatic arginase;type II arginase APPROVED protein-coding ENSG00000081181 664 00143 107830 REVIEWED 1322908 ARHGAP10 Rho GTPase activating protein 10 4 4 4 q31.23 145974548 146315244 + 148872903 149213377 + 148653453 148993927 + 737633;6480464 12477932 15471851;11432776;8288572;22610502;19911011;20031603;20158304;20332263;20379614;15161933;21906983 79658 A1A4S6;E7EUW5;H0Y8W5 AB050785;ABBA01070059;ABBA01070060;ABBA01070061;ABBA01070062;ABBA01070063;AC093678;AC093835;AC115621;AC125241;AK024549;AK123034;AK123785;AK130998;AK304458;AL834360;AMYH01014602;AMYH01014603;AMYH01014604;AMYH01014605;BC011920;BC047914;BC106018;BC109029;BC109030;BC126899;BC128055;BX647727;CH471056;CR457328;NM_024605 A1A4S6;AAH11920;AAH47914;AAI06019;AAI09030;AAI09031;AAI26900;AAI28056;BAB14924;BAB61771;BAG53857;BAG65274;CAD39024;CAG33609;EAX05009;EAX05010;NP_078881 Hs.368631 1339556;1341617;1643602;1650373;1651685;1666511;1668280;1727695;1763447;1763449;1851390;2123986;2125463;2153594;2177763 D4S3014;D4S3031;D4S3218;G33906;G34307;G63261;RH48780;SHGC-147160;SHGC-147161;SHGC-25164;SHGC-57571;SHGC-59314;SHGC-8151;SHGC4-1567;STS-R60782 FLJ20896;FLJ41791;GRAF2;PS-GAP;PSGAP GTPase regulator associated with focal adhesion kinase 2;OTTHUMP00000220267;graf-related protein 2;rho GTPase-activating protein 10;rho-type GTPase-activating protein 10 protein-coding ENSG00000071205 26099 07949 609746 VALIDATED 1351374 ARHGAP16P Rho GTPase activating protein 16 pseudogene 14 14 14 q21.2 23924849 23925629 + 43134308 43135288 + 44064658 44065438 + 319102 ABBA01018029;AL358913;AMYH01005696;NG_002492 ARHGAP15P pseudo 19921 INFERRED 1605984 ARGLU1 arginine and glutamate rich 1 13 13 13 q33.3 88039892 88064742 - 105993663 106018515 - 107195662 107220514 - 6480464 15302935;14702039;12477932;21319273;17332742;20098747;17207965;21454576;21832049;21139048;19322201 55082 Q5T256;Q9NWB6 AA445997;ABBA01027048;AI623424;AK001016;AL442127;AMYH01005357;AMYH01005358;BC030508;BC050434;BC071587;CH471085;CR936748;DB482545;NM_018011 AAH50434;AAH71587;ADQ33089;BAA91467;EAX09086;EAX09087;NP_060481;Q9NWB6 Hs.508644;Hs.743957 1707586;1849599;5022578;5022588 D1S1423;D5S1597E;RH44738;SHGC-84605 DKFZp686O08106;FLJ10154;RP11-297I6.1 OTTHUMP00000018683;arginine and glutamate-rich protein 1 protein-coding 25482 07648 614046 VALIDATED 1350534 ARHGAP11B Rho GTPase activating protein 11B 15 15 q13.2 28706171 28718305 + 30918879 30931013 + 6480464 12477932;11829490;8889549 89839 Q3KRB8 ABBA01038317;ABBA01038318;AC091057;AK310319;AMYH01006503;BC071990;BC105788;NM_001039841 AAI05789;NP_001034930;Q3KRB8 Hs.659621 1653367;1688124;1699844;1716483;1765371;1847117;2143742;2161823;2162498;2163842 D3S3152;G17839;G17845;RH103529;RH121527;RH77819;RH78987;SHGC-148860;SHGC-37549;STS-N90222 B'-T;D-X;FAM7B1;MGC104367 GAP (1-8);family with sequence similarity 7, member B1;rho GTPase-activating protein 11B;rho-type GTPase-activating protein 11B protein-coding ENSG00000187951 15782 PROVISIONAL 1314470 ARHGAP1 Rho GTPase activating protein 1 This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012] 11 11 p11.2 46655206 46678696 - 46698625 46722215 - 1580863;6480464 8253717;12901880;8288572;18029348;19103606;19066281;18619034;18579725;18060510;16189514;15588985;15489334;15282546;15262974;15169898;14724572;14718574;14702039;14697242;12501193;12477932;11741952;10954711;10799524;10555980;10551883;9548756;9407060;9268338;9262406;9034330;9009196;8805223;1905930;1903516;9535855;9427749;12944407;15652341;19801982;19911011;9338791;9846874;20660160;21169361;21051874;23175628;21139048;21890473;21906983;22504420;10843989;11311150;11523996;15596440;16331259;16380373;17222083;17611651;18331715;19302816;9599009;9799731;10684602;19805454;21988832;23000965;23200924 392 E9PNR6;H0YE29;Q07960 ABBA01060733;AC115088;AI640658;AK126404;AK298562;AK307296;AK310605;AMYH01003536;BC018118;CH471064;HY004921;NM_004308;U02570;U62794;Z23024 AAA16142;AAB66594;AAH18118;ABM85071;BAG60756;CAA80560;EAW67982;EAW67983;EAW67984;NP_004299;Q07960 Hs.138860 1651947;5024761;5037552 D8S2279;RH36905;RH79109 CDC42GAP;RHOGAP;RHOGAP1;p50rhoGAP CDC42 GTPase-activating protein;GTPase-activating protein rhoGAP;GTPase-activating protein rhoOGAP;GTPase-activating protein, Rho, 1;OTTHUMP00000233485;OTTHUMP00000233486;p50-RhoGAP;rho GTPase-activating protein 1;rho-related small GTPase protein activator;rho-type GTPase-activating protein 1 APPROVED protein-coding ENSG00000175220 673 04108 602732 REVIEWED 7243277 ARHGAP19-SLIT1 ARHGAP19-SLIT1 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring Rho GTPase activating protein 19 (ARHGAP19) and slit homolog 1 (SLIT1) genes on chromosome 10. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 20967262 100533184 AA431797;ABBA01021814;ABBA01021815;ABBA01021816;ABBA01021817;ABBA01021818;ABBA01021819;AL359385;AL512424;AMYH01002976;AY336750;NR_037909 AAR02412 Hs.80305 1683271 RH92281 miscrna 48348 VALIDATED 1348610 ARHGAP15 Rho GTPase activating protein 15 RHO GTPases (see ARHA; MIM 165390) regulate diverse biologic processes, and their activity is regulated by RHO GTPase-activating proteins (GAPs), such as ARHGAP15 (Seoh et al., 2003 [PubMed 12650940]).[supplied by OMIM, Mar 2008] 2 2 2 q22.2-q22.3 137599271 138238118 + 143603433 144242391 + 143886899 144525921 + 6480464 15761153;15459234;15342556;12650940;12477932;11042152;8125298;18482256;19197348;20379614;20468071;18541383;21297076;22505724 55843 B8ZZK0;H7BZM0;Q8IXX1 ABBA01028062;ABBA01028063;ABBA01028064;ABBA01028065;ABBA01028066;ABBA01028067;ABBA01028068;ABBA01028069;ABBA01028070;AC013437;AC079584;AC079793;AC092652;AC096558;AC098857;AC109639;AF212222;AF217507;AF217522;AK226014;AK303490;AK308219;AMYH01011144;AMYH01011145;AY219338;BC016701;BC038976;BP299206;CH471058;NM_018460 AAF67618;AAF67633;AAF87324;AAH16701;AAH38976;AAO34684;AAX82009;AAX93158;AAX93160;AAX93245;AAY14811;AAY24215;BAG64525;EAX11587;EAX11588;EAX11589;EAX11590;NP_060930;Q53QZ3 Hs.171011 1336624;1647184;1661231;1681145;1682447;1712975;1713533;1724035;1750501;1753591;1777094;1858235;1956008;2114820;2162961;2169742;2183522 D2S122;D2S1308;D2S1738;REN48866;RH119028;RH120252;RH120577;RH35973;RH79251;RH92102;RH93106;SHGC-107502;SHGC-111811;SHGC-23090;SHGC-23101;SHGC-64284;STS-AA040807 BM046 OTTHUMP00000162669;rho GTPase-activating protein 15;rho-type GTPase-activating protein 15 APPROVED protein-coding ENSG00000075884 21030 06447 610578 VALIDATED 1602334 ARHGAP11A Rho GTPase activating protein 11A 15 15 15 q13.2 9717343 9733551 + 30694983 30719160 + 32907691 32931868 + 6480464 16565220;15489334;12477932;11829490;7584028;7584026;15778465;15782160;17207965;19471022;23000965;23251661 9824 B4DZN9;H3BQ41;H3BR51;Q6P4F7 ABBA01038563;AC123768;AK303025;AK316437;AMYH01006505;BC039563;BC050545;BC063444;CH471125;D87717;NM_014783;NM_199357 AAH39563;AAH63444;ACT64423;ACT64424;ADQ31984;BAA13442;BAG64151;BAH14808;EAW92260;NP_055598;NP_955389;Q6P4F7 Hs.591130 1653367;1687003;2106431;2161823;2162498;2164846;2181650;5022651;5037552 ARHGAP11A__4355;D11S2921;D8S2279;RH17370;RH25252;RH78987;SHGC-35411;SHGC-37549;STS-N90222 KIAA0013;MGC70740 GAP (1-12);OTTHUMP00000159622;rho GTPase-activating protein 11A;rho-type GTPase-activating protein 11A protein-coding ENSG00000198826 15783 10656 610589 VALIDATED 1320676 ARHGAP12 Rho GTPase activating protein 12 This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 10 10 10 p11.22 31860349 31982898 - 32135231 32257776 - 32094326 32217804 - 6480464 15492870;16344560;8619474;8889548;9110174;18984674;15489334;15345747;15144186;14702039;12477932;12297274;11854031;16385451;18504429;21906983 94134 H0Y5D8;Q1RLN5;Q9NT76 ABBA01033395;ABBA01033396;AF131804;AK000744;AK001833;AK025438;AK091182;AK127611;AK315066;AL137485;AL390715;AL834250;AMYH01002222;AY033594;AY033595;BC051811;BC094719;BC115362;BC115363;BM693575;BX641115;CH471072;CR936681;DB062438;NM_001270695;NM_001270696;NM_001270697;NM_001270698;NM_001270699;NM_018287 AAH51811;AAH94719;AAI15363;AAI15364;AAK52311;AAK52312;BAA91932;BAB15131;BAG52300;CAB70766;CAD38926;CAE46053;EAW85979;EAW85980;EAW85981;EAW85982;EAW85983;EAW85984;EAW85985;NP_001257624;NP_001257625;NP_001257626;NP_001257627;NP_001257628;NP_060757;Q8IWW6 Hs.499264;Hs.741991 1648932;1685730;1695756;1850175;2123813;2218242 ARHGAP12_4356;D10S2484;RH27478;RH44894;SHGC-64280;SHGC-82680 DKFZp779N2050;FLJ10971;FLJ20737;FLJ21785;FLJ45709 OTTHUMP00000019407;OTTHUMP00000019409;OTTHUMP00000019410;rho GTPase-activating protein 12;rho-type GTPase-activating protein 12 APPROVED protein-coding ENSG00000165322 16348 06446 610577 REVIEWED 1312852 ARHGAP18 Rho GTPase activating protein 18 ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010] 6 6 6 q22.33 130644627 130777755 - 129939933 130073063 - 129898240 130031370 - 1580863;5686816;6480464 19065146 22808956;14702039;14574404;12477932;15231747;18987618;15489334;16712791;20664062;21865595 93663 Q8N392 AB053293;ABBA01025911;ABBA01025912;AI337078;AK002195;AK098594;AK307796;AL450310;AL834511;AMYH01016666;AMYH01016667;AMYH01016668;AY643712;BC017223;BC039611;BC052295;BC062417;BC073143;BC101708;BC107416;BC111940;BC143531;BM557223;CB149638;CH471051;NM_033515;Z97352 AAH17223;AAH39611;AAH62417;AAI01709;AAI07417;AAI11941;AAT64914;BAB61887;CAD39167;EAW48076;EAW48077;EAW48078;NP_277050;Q8N392 Hs.486458;Hs.708586 1339019;1650246;1703596;1709616;1709770;1717969;1785824;2132339;2218244 ARHGAP18_4357;D6S1470;D6S1620;RH122811;SHGC-106102;SHGC-64754;SHGC-84700;SHGC-85169;STS-N22224 FLJ25728;MGC126757;MGC138145;MacGAP;SENEX;bA307O14.2 OTTHUMP00000017190;rho GTPase-activating protein 18;rho-type GTPase-activating protein 18 APPROVED protein-coding 21035 12474 613351 VALIDATED 1343283 ARHGAP17 Rho GTPase activating protein 17 RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004] 16 16 16 p12.1 23711720 23807687 - 24838211 24934176 - 24930710 25026675 - 633422;1580863;6480464 10967100 17620599;19531213;16678097;15489334;14702039;12477932;11431473;11285285;11181995;20379614;20936779;21832049;18654987;23182705;23383273 55114 C9IZD3;I3L1S9;I3L3P1;I3L460;I3L4P0;I3L4P6;I3L4Y5;Q9BVF6 ABBA01017107;ABBA01017108;ABBA01017109;ABBA01017110;ABBA01017111;AC008731;AC010545;AF113218;AF163257;AF173885;AF258560;AF258580;AJ306731;AJ306732;AK001170;AK023281;AK027567;AK094886;AK125358;AK291691;AK301055;AK301500;AL833975;AMYH01007394;BC001241;BC080195;BI906519;CH471145;NM_001006634;NM_018054 AAG23763;AAG23783;AAG39289;AAH01241;AAH80195;AAQ13586;AAQ13632;BAB14506;BAB55203;BAC86144;BAF84380;BAG62665;BAG63011;CAC37948;CAC37949;CAD38819;EAW55778;EAW55779;EAW55780;NP_001006635;NP_060524;Q68EM7 Hs.373793 1663010;1691024;1772907;5022651;5109663 D11S2921;D7S2067E;RH64964;RH70317;STS-W92992 DKFZp564A1363;FLJ37567;FLJ43368;MGC87805;MST066;MST110;MSTP038;MSTP066;MSTP110;NADRIN;PP367;PP4534;RICH1;RICH1B;WBP15 RICH-1;RhoGAP interacting with CIP4 homologs 1;neuron-associated developmentally regulated protein;rho GTPase-activating protein 17;rho-type GTPase-activating protein 17;rhoGAP interacting with CIP4 homologs protein 1 APPROVED protein-coding ENSG00000140750 18239 12207 608293 VALIDATED 6480346 ARHGAP22-IT1 ARHGAP22 intronic transcript 1 (non-protein coding) q11.22 14702039 100689073 AK093071 Hs.667964 miscrna 42944 1316310 ARHGAP22 Rho GTPase activating protein 22 This gene encodes a member of the GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 10 q11.22 43239986 43398967 - 49324085 49483144 - 49654068 49864310 - 737633;1580863;6480464 12477932 15489334;15254788;14702039;8619474;16385451;20379614;20585324;21310492;22952583;21969604;16344560;21078624;21926414 58504 A6NHM7;A6NJ38;B4DED8;D6R9V6;D6RBJ8;Q7Z5H3 ABBA01047222;ABBA01047223;ABBA01047224;ABBA01047225;ABBA01047226;ABBA01047227;AC016397;AC016399;AC068898;AK055037;AK055937;AK127586;AK293579;AMYH01002636;AMYH01002637;AMYH01002638;AMYH01002639;AY324801;BC047096;BC126444;BC136319;CH471187;DB338179;DC391765;EF560749;NM_001256024;NM_001256025;NM_001256026;NM_021226;NR_045675;U90908 AAB51057;AAI26445;AAI36320;AAP85632;ABQ59059;ADR83111;BAC87044;BAG51453;BAG57049;EAW93125;EAW93126;EAW93127;NP_001242953;NP_001242954;NP_001242955;NP_067049;Q7Z5H3 Hs.655672 1782214;2176351 SHGC-173293;WI-15769 RhoGAP2;RhoGap22 OTTHUMP00000019561;OTTHUMP00000217290;OTTHUMP00000217291;OTTHUMP00000217292;OTTHUMP00000217296;rho GTPase-activating protein 22;rho-type GTPase-activating protein 22 APPROVED protein-coding ENSG00000128805 30320 12476 610585 VALIDATED 1350363 ARHGAP20 Rho GTPase activating protein 20 11 11 11 q23.1 107601250 107736673 - 109952976 110088661 - 110447759 110583912 - 6480464 16014623;15543602;15489334;15234003;14532992;12477932;10718198;20379614;20811636;21500311;22044751;22318606;23291589;23535033 57569 Q8IXS1 AB037812;ABBA01039829;ABBA01039830;ABBA01039831;AI936560;AK292290;AK307602;AMYH01004028;AP001883;AP001980;AP003460;AY496263;AY496264;AY496265;AY496266;AY496267;BC039340;BQ003257;CH471065;EF444953;NM_001258415;NM_001258416;NM_001258417;NM_001258418;NM_020809 AAH39340;AAS45466;AAS45467;AAS45468;AAS45469;AAS45470;ACA05945;ACA05946;ADZ15624;BAA92629;BAF84979;EAW67133;EAW67134;NP_001245344;NP_001245345;NP_001245346;NP_001245347;NP_065860;Q9P2F6 Hs.6136 1656354;1682800;1704564;1767985;1771749;2152141;2168376 D11S4275;RH18243;RH68495;SHGC-83088;WI-13375;WI-18672;WIAF-1688 KIAA1391;RARHOGAP OTTHUMP00000233638;OTTHUMP00000233639;OTTHUMP00000233640;OTTHUMP00000233641;OTTHUMP00000233642;RA and RhoGAP domain containing protein;rho GTPase activating protein 20 variant 2;rho GTPase-activating protein 20;rho-type GTPase-activating protein 20 protein-coding ENSG00000137727 18357 10657 609568 VALIDATED 1322263 ARHGAP21 Rho GTPase activating protein 21 ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM, Mar 2008] 10 10 10 p12.1 24564446 24712895 - 24912549 25052550 - 24872538 25012597 - 6480464 17620599;17347647;15793564;14702039;12477932;12056806;10718198;7829101;15778465;21173159;11238453;16385451;19268501;22318733;20195357;23235160;22922005 57584 E7ESW5;F8W9U9;H0Y468;H0Y5T2;Q5JSD8;Q5T5U3 AB037845;ABBA01034447;ABBA01034448;AF480466;AK074589;AK090642;AK295649;AK297278;AK307604;AL355979;AL392104;AL834495;AMYH01002194;AMYH01002195;AV709499;AV709848;BC022931;BC118915;BI491305;BQ026288;BX537570;CH471072;NM_020824 AAH22931;AAI18916;AAM22955;BAA92662;BAG59749;BAH12139;CAD39153;CAD97787;EAW86122;NP_065875;Q5T5U3 Hs.524195 1675395;1683607;1781980;2153569;2183526;5021996;5022450;5105769;5124137 D10S275;D10Ulb1;RH37461;RH45030;RH65067;RH66951;RH68400;SHGC-144197;SHGC-146218 ARHGAP10;DKFZp761L0424;FLJ33323;FLJ90108 OTTHUMP00000019319;OTTHUMP00000019321;Rho-GTPase activating protein 10;rho GTPase-activating protein 10;rho GTPase-activating protein 21;rho-type GTPase-activating protein 21 APPROVED protein-coding ENSG00000107863 23725 06445 609870 VALIDATED 6480967 ARHGAP26-IT1 ARHGAP26 intronic transcript 1 (non-protein coding) 100874372 AC004782 miscrna 41429 1351019 ARHGAP19 Rho GTPase activating protein 19 Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM, Mar 2008] 10 10 10 q24.1 92723490 92790901 - 98971920 99042403 - 98981930 99052430 - 6480464 17454002;15489334;15164054;14702039;12693554;12477932;9110174;8619474;16385451;16713569;22939629;16344560;21139048;19322201 84986 C9IZI4;H7BXR8;H7C5Z9;Q8N9X1;R4GMS4;R4GNI4 AA427792;ABBA01021814;ABBA01021815;ABBA01021816;ABBA01021817;ABBA01021818;AK074122;AK090447;AK093316;AK093441;AK303055;AL359385;AMYH01002976;BC007848;BC082250;BC103749;BC113888;BC114490;BI830638;BX648189;BX648194;CD743029;CH471066;CR749412;DB069205;DQ338460;NM_001204300;NM_001256423;NM_032900;U79256 AAI13889;AAI14491;ABC69298;BAB84948;BAC03428;BAC04130;BAC04165;BAG64173;CAH18254;EAW49952;EAW49953;EAW49954;EAW49955;NP_001191229;NP_001243352;NP_116289;Q14CB8 Hs.80305 1646108;1698392;2113088;2219004 ARHGAP19__4358;D10S2453;RH102738;STS-F10974 DKFZp313K217;MGC138804;MGC138805;MGC14258 OTTHUMP00000020188;OTTHUMP00000020189;putative RhoGAP protein;rho GTPase-activating protein 19;rho-type GTPase-activating protein 19 APPROVED protein-coding ENSG00000213390 23724 12475 611587 VALIDATED 6481189 ARHGAP26-AS1 ARHGAP26 antisense RNA 1 5 142239169 142248475 - 100874239 ABBA01026366;AC008533;AMYH01015668;BC039527;NR_046680 Hs.570896 APPROVED miscrna ENSG00000226272 40792 PREDICTED 1320244 ARHGAP23 Rho GTPase activating protein 23 The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008] 17 17 17 q12 33274219 33329461 + 33867690 33922154 + 36584720 36668628 + 6480464 16625196;15254754;12477932;10819331;17643375;15146197;16368877;21963094;23444366;23535730;21906983 57636 C9JVU9;F8W040;H0YHF3;H0YHQ9;J3KRL9;J3QLL1;K7ES65;Q9P227 AB040934;ABBA01031919;ABBA01031920;ABBA01031921;ABBA01031922;AC115090;AMYH01008362;BC039190;BM548592;BY795315;CN429246;CN429249;CN429251;CR746382;DN831435;EG328307;NM_001199417;R42869 BAA96025;NP_001186346;Q9P227 Hs.374446 1337023;1683431;1734408;2138310 A004B30;D17S1381E;D17S1836;RH91175 KIAA1501 OTTHUMP00000242673;rho GTPase-activating protein 23;rho-type GTPase-activating protein 23 APPROVED protein-coding ENSG00000225485 29293 610590 VALIDATED 1351716 ARHGAP25 Rho GTPase activating protein 25 ARHGAPs, such as ARHGAP25, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008] 2 2 2 p13.3 68812361 68904457 + 68815472 68907469 + 68961913 69053965 + 737633;1580863;6480464 12477932 15489334;15254788;7584044;19911011 9938 B7Z8K7;C9JB56;F8WAV9;F8WDF6;H7C4P1;P42331 ABBA01075491;AC097495;AC105054;AC112700;AK290396;AK297056;AK297157;AK298669;AK303591;AK310742;AK311669;AMYH01010419;BC032222;BC039591;BX443252;CD695161;CH471053;D29642;NM_001007231;NM_001166276;NM_001166277;NM_014882 AAH39591;AAY15074;AAY24006;BAA06125;BAF83085;BAH12484;BAH12510;BAH12841;BAH13993;EAW99866;EAW99867;EAW99868;NP_001007232;NP_001159748;NP_001159749;NP_055697;P42331 Hs.531807 1684485;1686058;1787610;2131539;2155926;2218246 ARHGAP25_4361;D2S2611;RH17432;RH25288;RH91480;SHGC-155934 KAIA0053 OTTHUMP00000202079;OTTHUMP00000202080;OTTHUMP00000202081;OTTHUMP00000214416;OTTHUMP00000214419;OTTHUMP00000214420;OTTHUMP00000214421;rho GTPase-activating protein 25;rho-type GTPase-activating protein 25 APPROVED protein-coding ENSG00000163219 28951 09805 610587 VALIDATED 1347841 ARHGAP28 Rho GTPase activating protein 28 18 18 18 p11.31 6719871 6801101 + 6824484 6905715 + 6834432 6915715 + 737633;6480464 12477932 16177791;15489334;14702039;10718198;18029348;23251661 79822 B4DXL2;E9PL26;E9PMX7;F6VKJ9;H9KVB7;J3KT69;J3KTC0;J3QKM0;J3QLR3;J3QRC2;Q9P2N2 AB037735;ABBA01049899;ABBA01049900;AI435330;AK001174;AK024298;AK130670;AK289791;AK302026;AK308259;AMYH01008789;AP005210;BC033668;BC065274;BG720645;BX648684;CH471113;DC401238;NM_001010000 AAH33668;AAH65274;BAA91533;BAA92552;BAF82480;BAG63424;EAX01633;EAX01634;EAX01635;NP_001010000;Q9P2N2 Hs.183114 1680216;1686923;1689011;1699534;1751907;2114130;5022578;5109281;5120437 AB072742;D1S1423;D1S1425;GDB:315881;RH103364;RH92850;RH93818;RH93927;SHGC-105816 DKFZp686A2038;FLJ10312;FLJ27160 OTTHUMP00000236529;OTTHUMP00000236530;OTTHUMP00000236531;OTTHUMP00000236532;rho GTPase-activating protein 28;rho-type GTPase-activating protein 28 protein-coding ENSG00000088756 25509 10961 610592 VALIDATED 6481080 ARHGAP31-AS1 ARHGAP31 antisense RNA 1 100874246 AC092981 APPROVED miscrna 41235 1346833 ARHGAP27 Rho GTPase activating protein 27 Rho (see ARHA; MIM 165390)-like small GTPases are involved in many cellular processes, and they are inactive in the GDP-bound state and active in the GTP-bound state. GTPase-activating proteins, such as ARHGAP27, inhibit Rho-like proteins by stimulating their intrinsic GTPase activity (Katoh and Katoh, 2004 [PubMed 15492870]).[supplied by OMIM, Mar 2008] 17 17 17 q21.31 40180571 40212381 - 40827058 40858780 - 43471268 43510282 - 1302833;6480464 15147912 15492870;14702039;12477932;12107413;11181995;12297274;20070850;21890473 201176 E9PIR1;E9PK18;E9PNT2;E9PNX6;Q6ZUM4;Q8N2Y9 ABBA01028314;ABBA01028315;ABBA01028316;AC003070;AC091132;AC217778;AF258593;AK092891;AK125535;AK290650;AK300880;AMYH01008442;BC029634;BC067345;BC101388;BC101389;BC101390;BC101391;BX386761;CD675139;CH471178;NM_174919;NM_199282 AAG23796;AAH29634;AAH67345;AAI01389;AAI01390;AAI01391;AAI01392;BAC86196;BAF83339;BAH13366;EAW51527;EAW51528;NP_777579;NP_954976;Q6ZUM4 Hs.205326 1337603;1660562;1775837;2182292;5020948;5037552;5109281;7185410 D17S1406E;D17S810;D1S1425;D8S2279;G35510;RH78841;SGC30868 CAMGAP1;FLJ35572;FLJ43547;FLJ76025;MGC120624;MGC78393;PP905;SH3D20;SH3P20 CIN85-associated multi-domain-containing Rho GTPase-activating protein 1;OTTHUMP00000234646;OTTHUMP00000234647;OTTHUMP00000234648;OTTHUMP00000234651;OTTHUMP00000234652;SH3 domain containing 20;SH3 domain-containing protein 20;rho GTPase-activating protein 27;rho-type GTPase-activating protein 27 APPROVED protein-coding ENSG00000159314 31813 12477 610591 VALIDATED 1315415 ARHGAP24 Rho GTPase activating protein 24 ARHGAPs, such as ARHGAP24, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008] 4 4 4 q22.1 83686557 84212966 + 86615308 87142847 + 86396284 86923823 + 1580863;6480464 16862148;19293932;19144823;16344560;15611138;15489334;15302923;15254788;14702039;12601173;12477932;11256614;11230166;9847074;18029348;20062060;20062063;20379614;20670164;21832049;21911940;21926999;23097497;23139255;23251661 83478 D6RBC2;D6RCP5;D6RHH1;Q8N264 ABBA01063489;ABBA01063490;ABBA01063491;ABBA01063492;ABBA01063493;ABBA01063494;ABBA01063495;AC097108;AC098870;AC104059;AC104810;AC115620;AC139716;AK091196;AK098193;AK130576;AK307423;AK308019;AL136646;AMYH01014367;AMYH01014368;AMYH01014369;AMYH01014370;AY211925;BC047918;BC098580;CH471057;DA546029;DA815489;DB109452;NM_001025616;NM_001042669;NM_031305 AAH47918;AAH98580;AAO65178;BAC03606;BAC85384;BAG53589;CAB66581;EAX05959;EAX05960;EAX05961;NP_001020787;NP_001036134;NP_112595;Q8N264 Hs.444229 1336699;1657656;1666474;1666707;1671858;1672628;1690420;1696076;1711270;1713891;1759973;2122886;2128655;2132567;2154948;2159772 D4S2340;D4S2356;D4S2409;D4S785;G09481;RH103371;RH119376;SHGC-112308;SHGC-37426;SHGC-50463;SHGC-50498;SHGC-50682;SHGC-58303;SHGC-79102;SHGC-89267;STS-N20263 DKFZp564B1162;FILGAP;FLJ33877;RC-GAP72;RCGAP72;p73;p73RhoGAP OTTHUMP00000160982;OTTHUMP00000160983;OTTHUMP00000218766;OTTHUMP00000218767;RAC1- and CDC42-specific GTPase-activating protein of 72 kDa;filamin-A-associated RhoGAP;rho GTPase-activating protein 24;rho-type GTPase-activating protein 24;rhoGAP of 73 kDa;sarcoma antigen NY-SAR-88 APPROVED protein-coding ENSG00000138639 25361 09804 610586 VALIDATED 1606326 ARHGAP29 Rho GTPase activating protein 29 1 1 1 p22.1 92888168 92957024 - 94407051 94475895 - 94634463 94703307 - 6480464 9305890;17488656;16189514;15752761;12477932;8889548;7566098;14749388;21502573;19911011;19343720;21139048;21906983;23000965;23400010;23008150 9411 F8VWZ8;Q52LW3 AA326126;AB208873;ABBA01045512;ABBA01045513;ABBA01045514;AK307733;AK310491;AL162735;AL833445;AMYH01000806;AW295796;BC022483;BC037337;BC067839;BC093741;BC093767;BF115799;BI548487;BU507990;BX508890;CA454270;CB852768;CH471097;NM_004815;U90920 AAB81012;AAH22483;AAH67839;AAH93741;AAH93767;BAD92110;EAW73051;EAW73052;NP_004806;Q52LW3 Hs.483238 1652685;1665014;1734522;1776558;1857145;2108339;2137302;2149897;2151163;2162713;2162715;2182717;5022578;5093466 A002A12;A009P20;D1S1423;D1S1765E;G19844;G32735;PARG1_7946;RH47971;RH64646;RH64657;RH64671;SHGC-32946;SHGC-75174;SHGC-75176 PARG1;RP11-255E17.1 OTTHUMP00000012383;OTTHUMP00000243160;PTPL1-associated RhoGAP 1 (PARG1);PTPL1-associated RhoGAP protein 1;rho GTPase-activating protein 29;rho-type GTPase-activating protein 29 protein-coding 30207 06674 610496 VALIDATED 1604190 ARHGAP30 Rho GTPase activating protein 30 1 1 1 q23.3 134083996 134106943 - 159283356 159306384 - 161016732 161039760 - 6480464 16710414;15489334;15144186;12477932;21565175;23128233 257106 E9PAN4;E9PLA4;E9PLT5;Q7Z6I6 ABBA01016600;ABBA01016601;ABBA01016602;AK126116;AK126163;AK160366;AL591806;AL832852;AL833477;AMYH01001456;AMYH01001457;BC025732;BC043387;BC053688;BX537846;CH471121;NM_001025598;NM_181720 AAH43387;AAH53688;BAC86447;BAD18709;CAD97855;EAW52667;EAW52668;EAW52669;EAW52670;EAW52671;EAW52672;EAW52673;EAW52674;NP_001020769;NP_859071;Q7Z6I6 Hs.389374 1730167;2129450;2177510;7185482 D1S273E;RH36021;STS-W72330 FLJ00267;FLJ44128;RP11-544M22.6 OTTHUMP00000029703;OTTHUMP00000029705;OTTHUMP00000228976;rho GTPase-activating protein 30;rho-type GTPase-activating protein 30 protein-coding ENSG00000186517 27414 11250 614264 VALIDATED 1322105 ARHGAP26 Rho GTPase activating protein 26 Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 5 5 q31 142130476 142588765 + 142150292 142608572 + 1599311;1580863;6480464;7240710 10908648 11432776;11998687;9582072;18929667;14702039;12477932;10737800;9858476;9734811;9525907;8649427;7836419;21622574;20533268;20374274;20602808;20704716;18759275;20379614;21965292;15717329;21074269;21890473;21906983 23092 C9J6V4;F8W8N5;H0Y4P9;H0Y835;H7BZE1;H7BZZ0;H7C1J1;H7C205;H7C3P8;Q9UNA1 AB014521;ABBA01026364;ABBA01026365;ABBA01026366;ABBA01026367;AC004782;AC005348;AC005574;AC008533;AC012630;AF196313;AF508552;AK092488;AK095220;AK123519;AK124521;AK298708;AMYH01015668;AMYH01015669;BC021059;BC068555;BF085236;CH471062;HM037040;NG_016711;NM_001135608;NM_015071;Y10388 AAG30729;AAH68555;AAM61871;ADI49692;BAA31596;BAG53008;BAG60864;CAA71414;EAW61876;EAW61877;NP_001129080;NP_055886;Q9UNA1 Hs.654668 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REN24740;REN24741;REN24742;REN24743;REN24744;REN24745;REN24746;REN24747;REN24748;REN24749;REN24750;REN24751;REN24752;REN24753;REN24754;REN24755;REN24756;REN24757;REN24758;REN24759;REN24760;REN24761;REN24762;REN24763;REN24764;REN24765;REN24766;REN24767;REN24768;REN24769;REN24770;REN24771;REN24772;REN24773;REN24774;REN24775;REN24776;REN24777;REN24778;REN24779;REN24780;REN24781;REN24782;REN24783;REN24784;REN24785;REN24786;REN24787;REN24788;REN24789;REN24790;REN24791;REN24792;REN24793;REN24794;REN24795;REN24796;REN24797;REN24798;REN24799;REN24800;REN24801;REN24802;REN24803;REN24804;REN24805;REN24806;REN24807;REN24808;REN24809;REN24810;REN24811;REN24812;REN24813;REN24814;REN24815;REN24816;REN24817;REN24818;REN24819;REN24820;REN24821;REN24822;REN24823;REN24824;REN24825;REN24826;REN24827;REN24828;REN24829;REN24830;REN24831;REN24832;REN24833;REN24834;REN24835;REN24836;REN24837;REN24838;REN24839;REN24840;REN24841;REN24842;REN24843;REN24844;REN24845;REN24846;REN24847;REN24848;REN24849;REN24850;REN24851;REN24852;REN24853;REN24854;REN24855;REN24856;REN24857;REN24858;REN24859;REN24860;REN24861;REN24862;REN24863;REN24864;REN24865;REN24866;REN24867;REN24868;REN24869;REN24870;REN24871;REN24872;REN24873;REN24874;REN24875;REN24876;REN24877;REN24878;REN24879;REN24880;REN24881;REN24882;REN24883;REN24884;REN24885;REN24886;REN24887;REN24888;REN24889;REN24890;REN24891;REN24892;REN24893;REN24894;REN24895;REN24896;REN24897;REN24898;REN24899;REN24900;REN24901;REN24902;REN24903;REN24904;REN24905;REN24906;REN24907;REN24908;REN24909;REN24910;REN24911;REN24912;REN24913;REN24914;REN24915;REN24916;REN24917;REN24918;REN24919;REN24920;REN24921;REN24922;REN24923;REN24924;REN24925;REN24926;REN24927;REN24928;REN24929;REN24930;REN24931;REN24932;REN24933;REN24934;REN24935;REN24936;REN24937;REN24938;REN24939;REN24940;REN24941;REN24942;REN24943;REN24944;REN24945;REN24946;REN24947;REN24948;REN24949;REN24950;RH102698;RH119688;RH123521;RH15959;RH36178;RH68661;RH69744;RH76776;SHGC-104765;SHGC-145147;SHGC-32370;SHGC-35009;SHGC-52704;STS-F09886;WI-13339;WI-13649;stSG622983;stSG622985;stSG622987;stSG622989;stSG622990;stSG622991;stSG622992;stSG622993;stSG622994;stSG622995;stSG622996;stSG622997;stSG622998;stSG622999;stSG623000;stSG623001;stSG623002;stSG623003;stSG623004;stSG623005;stSG623006;stSG623007;stSG623008;stSG623009;stSG623010;stSG623011;stSG623012;stSG623013;stSG623014;stSG623015;stSG623016;stSG623017;stSG623018;stSG623019;stSG623020;stSG623021;stSG623022;stSG623023;stSG623024;stSG623025;stSG623026;stSG623027;stSG623028;stSG623029;stSG623030;stSG623031;stSG623032;stSG623033;stSG623034;stSG623035;stSG623036;stSG623037;stSG623038;stSG623039;stSG623040;stSG623041;stSG623042;stSG623043;stSG623044;stSG623045;stSG623046;stSG623047;stSG623048;stSG623049;stSG623050;stSG623051;stSG623052;stSG623053;stSG623054;stSG623055;stSG623056;stSG623057;stSG623058;stSG623059;stSG623060;stSG623061;stSG623062;stSG623063;stSG623064;stSG623065;stSG623066;stSG623067;stSG623068;stSG623069;stSG623070;stSG623071;stSG623072;stSG623073;stSG623074;stSG623075;stSG623076;stSG623077;stSG623078;stSG623079;stSG623080;stSG623081;stSG623082;stSG623084;stSG623085;stSG623086;stSG623087;stSG623088;stSG623089;stSG623090;stSG623091;stSG623092;stSG623093;stSG623094;stSG623095;stSG623096;stSG623097;stSG623098;stSG623099;stSG623100;stSG623101;stSG623102;stSG623103;stSG623104;stSG623105;stSG623106;stSG623107;stSG623108;stSG623109;stSG623110;stSG623111;stSG623112;stSG623113;stSG623114;stSG623115;stSG623116;stSG623117;stSG623118;stSG623119;stSG623120;stSG623121;stSG623122;stSG623123;stSG623124;stSG623125;stSG623126;stSG623127;stSG623128;stSG623129;stSG623130;stSG623131;stSG623132;stSG623133;stSG623134;stSG623135;stSG623136;stSG623137;stSG623138;stSG623139;stSG623142;stSG623144;stSG623145;stSG623146;stSG623147;stSG623148;stSG623149;stSG623150;stSG623151;stSG623152;stSG623153;stSG623154;stSG623155;stSG623156;stSG623157;stSG623158;stSG623159;stSG623160;stSG623161;stSG623162;stSG623163;stSG623165;stSG623166;stSG623167;stSG623169;stSG623170;stSG623171;stSG623172;stSG623173;stSG623174;stSG623175;stSG623176;stSG623177;stSG623179;stSG623180;stSG623181;stSG623182;stSG623183 FLJ42530;GRAF;GRAF1;KIAA0621;OPHN1L;OPHN1L1 GTPase regulator associated with focal adhesion kinase pp125(FAK);OTTHUMP00000066032;OTTHUMP00000070148;oligophrenin-1-like protein;rho GTPase-activating protein 26;rho-type GTPase-activating protein 26 APPROVED protein-coding ENSG00000145819 17073 05643 605370;607785 REVIEWED 1605412 ARHGAP32 Rho GTPase activating protein 32 RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008] 11 11 11 q24.3 126003454 126230572 - 128343052 128399222 - 128834955 129062093 - 6480464 18477472;18577589;18451111;17663722;16713569;14702039;12857875;12819203;12788081;12531901;12477932;12477392;12454018;12446789;12421765;9872452;15778465;20936779;10737800;20308060;23226367;17620599;23319000;22530067 9743 A7KAX9;E9PRH3;G3V174;I7H0B0;Q86T64 AB018255;AB079856;AB088416;ABBA01023015;ABBA01023016;ABBA01023017;AK001257;AK023715;AK025237;AL833062;AMYH01004122;AP000747;AP000751;AP002886;AY194287;BC000277;BC023644;BC051236;BC054488;BC065371;BC104898;BC113429;BQ319051;CH471065;CK823137;EF127492;NM_001142685;NM_014715 A7KAX9;AAH00277;AAH51236;AAH65371;AAI04899;AAI13430;AAO43677;ABO33171;BAA34432;BAC24802;BAM34446;CAD89974;EAW67732;EAW67733;EAW67734;EAW67735;EAW67736;EAW67737;EAW67738;EAW67739;EAW67740;EAW67741;EAW67742;NP_001136157;NP_055530 Hs.440379 1654475;1668170;1677490;1698878;1707790;1737255;2127872;2157956;5110027 D11S2097;D11S2896;D11S3120;D11S4354;G27495;RH103006;SHGC-82118;STS-M79191;WI-11842 GC-GAP;GRIT;KIAA0712;MGC1892;PX-RICS;RICS;p200RhoGAP;p250GAP GAB-associated CDC42;GAB-associated Cdc42/Rac GTPase-activating protein;GTPase regulator interacting with TrkA;GTPase-activating protein for Cdc42 and Rac1;OTTHUMP00000230948;OTTHUMP00000230996;OTTHUMP00000230997;OTTHUMP00000230998;RhoGAP involved in the -catenin-N-cadherin and NMDA receptor signaling;brain-specific Rho GTP-ase-activating protein;brain-specific Rho GTPase-activating protein;rac GTPase activating protein;rho GTPase-activating protein 32;rho-type GTPase-activating protein 32;rho/Cdc42/Rac GTPase-activating protein RICS;rhoGAP involved in the beta-catenin-N-cadherin and NMDA receptor signaling APPROVED protein-coding ENSG00000134909 17399 12257 608541 VALIDATED 1606256 ARHGAP31 Rho GTPase activating protein 31 This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008] 3 3 3 q13.33 117421692 117546790 + 120495910 120619254 + 119013220 119138323 + 6480464;7240710 9786927;17158447;16519628;15761153;12477932;11744688;10574462;8889548;12819203;19706030;20190752;20936779;21565291;22907917;21774070;23894747;18539136;22518840 57514 C9J652;Q2M1Z3 AB033030;ABBA01061585;ABBA01061586;AC092981;AK026689;AK293726;AMYH01013418;BC112163;BC112165;BM970175;CH471052;NG_007665;NM_020754 AAI12164;AAI12166;ADR83297;BAA86518;BAH11580;EAW79573;EAW79574;NP_065805;Q2M1Z3 Hs.668218 1685231;1708644;1757461;1760183;2138434;2163536;2218352 CDGAP_4536;RH99056;SHGC-132468;SHGC-144836;SHGC-32480;SHGC-7110;SHGC-85123 AOS1;CDGAP;KIAA1204;MGC138368;MGC138370 Cdc42 GTPase-activating protein;OTTHUMP00000215062;rho GTPase-activating protein 31 APPROVED protein-coding ENSG00000031081 29216 16697 100300;610911 REVIEWED 1343259 ARHGAP40 Rho GTPase activating protein 40 20 20 20 q11.23 33941365 33990115 + 36685438 36762920 + 37230577 37279295 + 6480464 343578 H0Y397;H0Y7S1;H7BXE0;Q5TG30 ABBA01052526;ABBA01052527;AL035419;AL133519;AMYH01011906;NM_001164431 NP_001157903;Q5TG30 Hs.451997 1335158;1743261;1760075;2118167;2171107 D20S1152;D20S478;GDB:313405;SHGC-107732;Z94371 C20orf95;dJ1100H13.4 OTTHUMP00000030971;rho GTPase-activating protein 18-like;rho GTPase-activating protein 40;rho-type GTPase-activating protein 40 APPROVED protein-coding ENSG00000124143 16226 INFERRED 6483750 ARHGAP42P1 Rho GTPase activating protein 42 pseudogene 1 2 132085749 132088667 - 100887075 ABBA01028239;AC073869;AMYH01011096;NG_032717 pseudo 43940 INFERRED 6768999 ARHGAP42P2 Rho GTPase activating protein 42 pseudogene 2 2 q21.1 130763773 130766771 + 100130693 ABBA01040140;AC079776;AMYH01011041 pseudo 43939 MODEL 1318751 ARHGAP33 Rho GTPase activating protein 33 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010] 19 19 19 q13.12 32979892 32993199 + 40958316 40971564 + 36266417 36279724 + 1580863 16777849;18660489;15489334;15057824;14702039;12773384;12477932;12461558;12297274;11736640;11485546;11441184;17664338;20936779 115703 A1A5D2;K7EK14;K7EMC2;K7EQI6;K7ER09;O14559 ABBA01018765;AC002398;AK096338;AK127255;AL137579;AMYH01009733;AY044864;BC014084;BC128586;HI574102;NM_001172630;NM_052948 AAB81197;AAB81198;AAH14084;AAI28587;AAK97795;BAC86902;BAG53264;CAB70821;CBX47540;NP_001166101;NP_443180;O14559 Hs.515364 1675583;1686508;1701628;2107645;2166105;2191661 MARC_4163-4164:996679454:1;RH104456;RH46149;RH75149;RH91709;SNX26__6878 FLJ39019;NOMA-GAP;SNX26;TCGAP neurite outgrowth multiadaptor RhoGAP protein;rho GTPase-activating protein 33;rho-type GTPase-activating protein 33;sorting nexin 26;sorting nexin-26;tc10/CDC42 GTPase-activating protein APPROVED protein-coding ENSG00000004777 23085 15415 614902 REVIEWED 1350998 ARHGAP42P3 Rho GTPase activating protein 42 pseudogene 3 22 22 q11.1 14804024 14824277 + 16424125 16444178 + 266698 AMYH01012390;AMYH01012391;AP000534;NG_002375 OPHN1P1 APPROVED pseudo 19327 INFERRED 3500508 ARHGAP42 Rho GTPase activating protein 42 11 11 11 q22.1 97727721 98030995 + 100063620 100354994 + 100558407 100861656 + 6480464 14702039;16344560;18954304;20379614;21909110;21909115 143872 A6NI28;E9PJK4;H0YDU1;H0YEJ7 ABBA01039961;ABBA01039962;ABBA01039963;ABBA01039964;ABBA01039965;ABBA01039966;AC015600;AI672473;AI677857;AK023666;AK057372;AMYH01003987;AP000872;AP001351;BM014001;BU146672;DA800121;EG328683;NM_152432 A6NI28;BAB71456;NP_689645 Hs.741465 1336430;1340321;1648628;1658774;1668259;1690324;1698756;1738201;1857780;2111772;2133005;2153534;2173427;2182762;5020340;5113116;7190615;7190619 D0S2244;D11S1971;D11S2035;D11S2067;D11S3831;D11S4100;D11S4472;D11S900;RH102941;RH66017;RH69562;RH79067;RH92123;SGC31108;WI-11049;WI-17552 FLJ32810;GRAF3;KIAA0621 OTTHUMP00000236201;rho GTPase-activating protein 10-like;rho GTPase-activating protein 42;rho-type GTPase-activating protein 42 protein-coding ENSG00000165895 26545 PROVISIONAL 1606778 ARHGAP39 Rho GTPase activating protein 39 8 8 8 q24.3 141930235 142014662 - 145725371 145809699 - 145754563 145838891 - 6480464 15302935;14702039;12477932;11214970;15755809 80728 B3KS00;Q9C0H5 AB051475;ABBA01005198;ABBA01005199;ABBA01005200;AC084125;AK092501;AK296353;AK303851;AMYH01019158;AMYH01019159;BC013071;CH471162;NM_025251 AAH13071;BAB21779;BAG52562;BAG59035;BAG64793;EAW82062;NP_079527;Q9C0H5 Hs.148988 CrGAP;KIAA1688;Vilse OTTHUMP00000228801;OTTHUMP00000228802;RhoGAP93B homolog;crossGAP homolog;rho GTPase-activating protein 39 APPROVED protein-coding ENSG00000147799 29351 17224 VALIDATED 6770425 ARHGAP42P4 Rho GTPase activating protein 42 pseudogene 4 14 q11.2 20156459 20159355 + 254398 AL512310;AMYH01005576;NG_028869 pseudo 43941 INFERRED 6769156 ARHGAP42P5 Rho GTPase activating protein 42 pseudogene 5 14 q11.2 19399163 19403263 - 100128514 ABBA01173075;AMYH01005466;CR383656;NG_028186 pseudo 43942 INFERRED 1603059 ARHGAP35 Rho GTPase activating protein 35 The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. [provided by RefSeq, Jul 2008] 19 19 q13.3 52113773 52200174 + 47421933 47508334 + 6480464;6484113 1894621;19393245;19293150;19086053;18922893;18829532;18642445;18567581;18282590;17562701;17081983;16341674;16308318;16210701;16188938;15592455;15302935;14702039;12477932;12168954;11214970;11054565;8702520;12441060;9548756;9034330;22807448;20530197;20534586;20634891;20675588;11309200;16513268;19435801;9819392;15102857;16751776;16147992;21127047;21139048;21906983;22357615;20617170;23178654 2909 A2RRE5;Q9NRY4 AB051509;ABBA01040995;ABBA01040996;ABBA01040997;ABBA01040998;AC008755;AC008895;AF159851;AK096123;AK097314;AK298356;AL831914;AMYH01009873;BC003514;BC065491;BC131565;BC150257;BE871213;BM855708;CA429690;CH471126;CX163309;M73077;NM_004491 AAA58618;AAF80386;AAI31566;AAI50258;BAB21813;BAG60600;EAW57450;EAW57451;EAW57452;EAW57453;NP_004482;Q9NRY4 Hs.509447 1337079;1337680;1662366;1685041;1771682;2119507;2125050;2152575;2167876;5107703;5111275;7187464 D18S1154;D19S540;D19S851;RH12331;RH15918;RH67855;RH68444;RH77962;RH79947;STS-N25336;WI-9140 GRF-1;GRLF1;KIAA1722;MGC10745;P190-A;P190A;p190ARhoGAP;p190RhoGAP glucocorticoid receptor DNA binding factor 1;glucocorticoid receptor DNA-binding factor 1;glucocorticoid receptor repression factor 1;rho GAP p190A;rho GTPase-activating protein 35 APPROVED protein-coding ENSG00000160007 4591 05592 605277 REVIEWED 1603262 ARHGAP36 Rho GTPase activating protein 36 X X X q26.1 130578656 130610299 + 130019897 130051534 + 130192216 130223857 + 6480464 18029348;15772651;15489334;14702039;12477932 158763 Q6ZRI8 ABBA01047990;ABBA01047991;ABBA01047992;AK054620;AK128203;AK294274;AK296748;AL590131;AMYH01022981;BC063790;CD107623;CH471107;NM_144967 AAH63790;BAB70776;BAC87322;BAH11720;BAH12425;EAX11793;EAX11794;EAX11795;NP_659404;Q6ZRI8 Hs.22905 1658646;1721711;1755443;1852550 DXS7024E;G59719;SHGC-142312;WI-13730 FLJ30058;RP13-102H20.1 OTTHUMP00000024023;OTTHUMP00000024024;OTTHUMP00000024026;OTTHUMP00000215137;rho GTPase-activating protein 36 APPROVED protein-coding ENSG00000147256 26388 06547 VALIDATED 1343373 ARHGAP4 Rho GTPase activating protein 4 This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] X X X q28 153406543 153425434 - 152826025 152844892 - 153172830 153191714 - 1580863;6480464 8570618;18029348;18489790;16381901;15489336;12736724;12477932;12447388;12414125;11754100;11256614;11076863;10655059;8590280;7981673;16417406;11756498;12376548;12787561;20237496;19913121;20628086;21890473;21906983;22009749;14581471;22965914 393 C9J5M2;C9JLA8;E7EQN5;E9PCM6;F5GZW3;F8WAR0;H7C120;H7C2Z8;H7C3G3;H7C3K8;P98171 ABBA01045337;ABBA01045338;ABBA01045339;ABBA01045340;ABBA01045341;ABBA01045342;AI249937;AK294562;AMYH01023303;AY183123;BC023626;BC052303;CH471172;D50921;NG_013220;NM_001164741;NM_001666;U52112;X78817;Z68128 AAH23626;AAH52303;AAO66337;BAA09480;BAH11812;CAA55394;CAA92213;CAL37504;CAL38100;EAW72777;EAW72778;EAW72779;EAW72780;EAW72781;EAW72782;NP_001158213;NP_001657;P98171 Hs.701324 1801570;1802020;1803354;1803392;1804762;1804944;1805050;1805102;1809150;1810114;1810538;1810540;1810982;1811374;1812290;1814134;1817982;1827218;1828232;1837142;1840322;1843974;2034158;2034160;2034162;2034164;2034166;2034168;2034170;2034204;2034206;2034208;2034210;2034212;2034214;2034216;2034218;2034220;2034222;2034224;2034226;2034228;2034230;2034232;2034234;2034236;2034238;2034240;2034242;2034244;2034246;2034248;2034250;2034252;2034254;2034256;2034258;2034260;2034262;2034264;2034266;2034268;2034270;2034272;2034274;2034276;2034278;2034280;2034282;2034284;2034286;2034288;2034290;2034292;2034294;2034296;2034298;2034300;2034302;2034304;2034306;2034308;2034310;2034312;2034314;2034316;2034318;2034320;2034322;2034324;2034326;2034328;2034330;2034332;2034334;2034336;2034338;2034340;2034342;2034344;2034346;2034348;2034350;2034352;2034354;2034356;2034358;2034360;2034362;2034364;2034366;2034368;2034370;2034372;2034374;2034376;2034378;2034380;2102102;2102104;2102106;2102108;2102110;2102112;2102114;2102116;2102118;2102120;2102122;2102124;2102126;2116353;2173341;2218248 ARHGAP4_4362;DXS8147;ECD01663;ECD01891;ECD02574;ECD02593;ECD03313;ECD03408;ECD03466;ECD03493;ECD05564;ECD06049;ECD06262;ECD06263;ECD06489;ECD06685;ECD07152;ECD08096;ECD10046;ECD14724;ECD15241;ECD19737;ECD21346;ECD23199;REN88088;REN88089;REN88090;REN88091;REN88092;REN88093;REN88094;REN88111;REN88112;REN88113;REN88114;REN88115;REN88116;REN88117;REN88118;REN88119;REN88120;REN88121;REN88122;REN88123;REN88124;REN88125;REN88126;REN88127;REN88128;REN88129;REN88130;REN88131;REN88132;REN88133;REN88134;REN88135;REN88136;REN88137;REN88138;REN88139;REN88140;REN88141;REN88142;REN88143;REN88144;REN88145;REN88146;REN88147;REN88148;REN88149;REN88150;REN88151;REN88152;REN88153;REN88154;REN88155;REN88156;REN88157;REN88158;REN88159;REN88160;REN88161;REN88162;REN88163;REN88164;REN88165;REN88166;REN88167;REN88168;REN88169;REN88170;REN88171;REN88172;REN88173;REN88174;REN88175;REN88176;REN88177;REN88178;REN88179;REN88180;REN88181;REN88182;REN88183;REN88184;REN88185;REN88186;REN88187;REN88188;REN88189;REN88190;REN88191;REN88192;REN88193;REN88194;REN88195;REN88196;REN88197;REN88198;REN88199;RH25354;stSG603684;stSG603685;stSG603686;stSG603688;stSG603689;stSG603690;stSG603691;stSG603692;stSG603693;stSG603694;stSG603695;stSG603696;stSG603698 C1;KIAA0131;RGC1;RhoGAP4;SrGAP4;p115 OTTHUMP00000026003;OTTHUMP00000026004;OTTHUMP00000063090;OTTHUMP00000196209;OTTHUMP00000198723;Rho-GAP hematopoietic protein C1;rho GTPase-activating protein 4;rho-type GTPase-activating protein 4 APPROVED protein-coding ENSG00000089820 674 02063 300023 REVIEWED 1349829 ARHGAP6 Rho GTPase activating protein 6 This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X p22.3 15283114 15812107 - 11065584 11593742 - 11155663 11683821 - 1580863;6480464 8570618;10699171;18434237;12673365;12477932;9417914;22889411;19913121;20628086;19960375 395 B4DN07;B7Z8H7;H7BYE6;O43182;Q59HG6 AB208792;ABBA01070885;ABBA01070886;ABBA01070887;ABBA01070888;ABBA01070889;ABBA01070890;ABBA01070891;ABBA01070892;ABBA01070893;ABBA01070894;ABBA01070895;ABBA01070896;ABBA01070897;ABBA01070898;ABBA01070899;ABBA01070900;ABBA01070901;ABBA01070902;ABBA01070903;ABBA01070904;ABBA01070905;ABBA01070906;ABBA01070907;ABBA01070908;ABBA01070909;ABBA01070910;ABBA01070911;ABBA01070912;ABBA01070913;ABBA01070914;ABBA01070915;ABBA01070916;ABBA01070917;ABBA01070918;ABBA01070919;ABBA01070920;ABBA01070921;ABBA01070922;ABBA01070923;ABBA01070924;ABBA01070925;ABBA01070926;ABBA01070927;ABBA01070928;ABBA01070929;AC002366;AC003657;AC004467;AC004554;AC130886;AC130890;AF012272;AF022212;AF117067;AF177663;AF177665;AK293078;AK297713;AK297747;AK303444;AMYH01022077;AMYH01022078;AMYH01022079;AMYH01022080;AMYH01022081;BC035785;BC150635;CH471074;NG_012494;NM_006125;NM_013423;NM_013427 AAC98539;AAC98540;AAD53166;AAD55087;AAF43261;AAI50636;BAD92029;BAF85767;BAG60069;BAG60097;BAH13963;EAW98786;EAW98787;EAW98788;EAW98789;EAW98790;EAW98791;NP_006116;NP_038267;NP_038286;O43182 Hs.435291 1334942;1340401;1657639;1679774;1681165;1693974;1693976;1693978;1693980;1693982;1693984;1693998;1694028;1694052;1701994;1702156;1702256;1702852;1702862;1702906;1706890;1710836;1720241;1726893;1728909;1739475;1740289;1743711;1744867;1744869;1744873;1744877;1744879;1753779;1769050;1787204;1797068;1857984;2112222;2112224;2139997;2144628;2177113;2185482;2218250;7186425 AF003642;AF003643;AF003645;AF003646;AF003647;AF003648;AF003655;AF003672;AF003685;AFMa052zc1;AMELX;ARHGAP6_4363;D11S1905;DXF22S5;DXS1043;DXS1129;DXS1135;DXS1380;DXS1445;DXS7090;DXS7519;DXS7543;DXS7800;DXS7928;DXS8202;DXS9824;DXS9825;G42692;G62689;GDB:371402;GDB:574117;GDB:574121;GDB:574132;GDB:574144;GDB:574146;GDB:677393;RH123869;RH46956;RH79902;RH98500;SHGC-105133;SHGC-108012;SHGC-34710;SHGC-80932;SHGC-84186 RHOGAP6;RHOGAPX-1 OTTHUMP00000022913;OTTHUMP00000022915;OTTHUMP00000022916;OTTHUMP00000022917;OTTHUMP00000022918;OTTHUMP00000236431;Rho-type GTPase-activating protein RhoGAPX-1;rho GTPase-activating protein 6;rho-type GTPase-activating protein 6 APPROVED protein-coding ENSG00000047648 676 02124 300118 REVIEWED 1606315 ARHGAP8 Rho GTPase activating protein 8 This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. This family member is a multidomain protein that functions to promote Erk activation and cell motility. Alternative splicing results in multiple transcript variants. Read-through transcripts from the upstream proline rich 5, renal (PRR5) gene into this gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010] 22 22 q13.31 43527102 43637328 + 45148438 45258664 + 6480464 15944398;15506981;15225876;15064355;14702039;12944407;12559566;12477932;12297274;10591208;19913121;20628086;20179103;15955831;16555160;18217980;21906983;22554406;22863734;21890473 23779 A6ZJ79;B1AHC2;B1AHC4;B1AHF8;F8W6F4;F8WCV8;Q6PJW1;Q9NSG0 ABBA01017851;ABBA01017852;ABBA01017853;ABBA01017854;ABBA01017855;AF544240;AI284954;AK001306;AK022305;AMYH01012842;AW673723;BC010490;BC048280;BC059382;BC067824;BC093675;BC111953;NM_001017526;NM_001198726;NM_181335;Z93244 AAH10490;AAH48280;AAH59382;AAH93675;AAI11954;AAN40769;BAA91614;BAB14008;NP_001017526;NP_001185655;NP_851852;P85298 Hs.102336 1339982;1709650;1711490;1711492;1747489;1754307;1777909;2115169;2136929;2145942;5022578;5037552 AL008674;AL021650;AL021655;AL021670;D1S1423;D22S1168;D8S2279;G49246;G49247;G65368;SHGC-132331;SHGC-85190 BPGAP1;FLJ20185;PP610 BCH domain-containing Cdc42GAP-like protein;BNIP-2 and Cdc42GAP homology domain-containing, proline-rich and Cdc42GAP-like protein subtype-1;OTTHUMP00000028598;OTTHUMP00000082599;OTTHUMP00000082600;OTTHUMP00000219408;rho GTPase-activating protein 8;rho-type GTPase-activating protein 8 APPROVED protein-coding ENSG00000241484 677 06448 609405 REVIEWED 1318315 ARHGAP5 Rho GTPase activating protein 5 Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 q12 31616246 31698685 + 32546495 32628934 + 1580863;6480464 8537347;1689011;18996642;16777052;16469769;15588985;15231748;14702039;14610059;12842009;12554790;12477932;10939588;10713673;8889548;7935432;10092539;10769036;8344248;19822667;23184937;22939629;21139048 394 G3V360;G3V444;G3V5I7;H0YK04;Q59ER0 AB209751;ABBA01061428;ABBA01061429;AK023468;AK292966;AK307454;AL045112;AL161665;AMYH01005644;AMYH01005645;AY316523;BC032723;BC050059;BC075799;BC129928;BC129929;CA945100;CH471078;NM_001030055;NM_001173;U17032 AAA95963;AAH32723;AAH50059;AAH75799;AAI29929;AAI29930;AAP83192;BAD92988;BAF85655;EAW65935;EAW65936;EAW65937;EAW65938;NP_001025226;NP_001164;Q13017 Hs.592313 1666966;1671314;1701400;1771362;2115920;2122254;2127940 G35570;G36303;RH104330;RH18005;RH45106;RH68433;SHGC-36390 GFI2;RhoGAP5;p190-B;p190BRhoGAP OTTHUMP00000244094;OTTHUMP00000244095;OTTHUMP00000244097;OTTHUMP00000244099;growth factor independent 2;p100 RasGAP-associated p105 protein;p105 RhoGAP;rho GTPase-activating protein 5;rho-type GTPase-activating protein 5 APPROVED protein-coding ENSG00000100852 675 04060 602680 REVIEWED 1344910 ARHGAP5-AS1 ARHGAP5 antisense RNA 1 (head to head) 14 14 14 q12 12411038 12412318 - 31614376 31615607 - 32544625 32545905 - 6480464 16341674;15489334;12477932 84837 Q96IT6 ABBA01061428;AF147421;AI493138;AK314153;AL161665;AMYH01005643;BC007251;BM745256;CH471078;NR_027263 BAG36839;EAW65939;EAW65940;Q96IT6 Hs.496755 1671314;2122254 RH68433;SHGC-36390 C14orf128;MGC15504 APPROVED miscrna ENSG00000258655 20279 VALIDATED 1604841 ARHGAP44 Rho GTPase activating protein 44 17 17 17 p12 12718166 12920275 + 12633554 12835685 + 12692829 12894960 + 6480464 16344560;15489334;14702039;12477932;11431473;9734811;16169070;21107268;19273615;22566634 9912 A6NCP5;E7ERK8;F5H6L3;J3KRS3;J3QQU7;K7EK86;Q17R89;Q69Z00 AB014572;ABBA01055008;ABBA01055009;ABBA01055010;ABBA01055011;ABBA01055012;ABBA01055013;AC005274;AC005277;AK023797;AK294538;AL080100;AL096728;AMYH01008120;AMYH01008121;AY320403;BC022452;BC070074;BC094754;BC117412;BC117416;BC143852;BC143853;BC143855;BC143856;BM993036;CH471108;DA403021;DB461035;NM_014859 AAH22452;AAI17413;AAI17417;AAI43854;AAP73805;BAA31647;BAG57745;CAB46376;CAH10728;EAW89965;EAW89966;EAW89967;EAW89968;EAW89969;NP_055674;Q17R89 Hs.499758 1299913;1677102;1736636;1754321;2129366;2191793;7185389 D17S1477E;D17S947;MARC_7897-7898:996688141:1;RH45714;SHGC-132349;STS-N70341 KIAA0672;NPC-A-10;RICH2 OTTHUMP00000064673;RICH-2;Rho-type GTPase-activating protein RICH2;RhoGAP interacting with CIP4 homologs protein 2;rho GTPase-activating protein 44;rho GTPase-activating protein RICH2 APPROVED protein-coding ENSG00000006740 29096 13810 VALIDATED 1313314 ARHGAP9 Rho GTPase activating protein 9 This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 57520025 57527620 - 56152305 56159900 - 57866038 57873633 - 1580863;6480464;7240710 16344560;16189514;15489334;15231748;14702039;12477932;12297274;11396949;17284314;19807924;19911011;21832049;21890473;22505724 64333 F8VQR0;F8VQY5;F8VR90;F8VSD0;F8VW89;F8W1N6;H0YI33;H0YI36;J3KPQ4;Q9BRR9;R4GN15 AB030239;AB051853;ABBA01026701;AC022506;AF161339;AK057573;AK092763;AK131415;AK300910;AK301095;AK304107;AL713803;AMYH01004518;BC006107;BC011820;CB528354;CH471054;DA675251;NG_023205;NM_001080156;NM_001080157;NM_032496 AAF28899;AAH06107;AAH11820;ABM87429;ABW03888;BAB56159;BAB83128;BAC03969;BAD18562;BAG51936;BAG62545;BAG62695;BAG65010;CAD28552;EAW97014;EAW97015;EAW97016;EAW97017;EAW97018;NP_001073625;NP_001073626;NP_115885;Q9BRR9 Hs.437126 1698778;1744029;1774019;1792710;2157183 D12S1934;GDB:384866;PMC156767P1;RH102952;STS-X07384 10C;FLJ16525;MGC1295;RGL1 OTTHUMP00000196432;OTTHUMP00000196433;OTTHUMP00000242579;OTTHUMP00000242581;rho GTPase-activating protein 9;rho-type GTPase-activating protein 9 APPROVED protein-coding ENSG00000123329 14130 06449 610576 REVIEWED 1354371 ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha Aplysia Ras-related homologs (ARHs), also called Rho genes, belong to the RAS gene superfamily encoding small guanine nucleotide exchange (GTP/GDP) factors. The ARH proteins may be kept in the inactive, GDP-bound state by interaction with GDP dissociation inhibitors, such as ARHGDIA (Leffers et al., 1993 [PubMed 8262133]).[supplied by OMIM, Jan 2009] 17 17 q25.3 77418886 77422527 - 79825597 79829282 - 1580863;6480464;6484113;6907045 8262133;17353931;16130169;18992375;18768928;18702520;18651761;18524772;18070886;17909265;17653765;17330946;16943322;16916647;16236267;16169070;15513926;15489334;12477932;11513579;11513578;11320308;11149925;10713718;10676816;10673424;10664460;10346909;9681826;9490022;9287351;9195882;9186513;16526095;11368848;11809807;15659383;15225553;22393046;20628200;21145461;21319273;22532870;20472934;19401544;17335080;20043072;20305651;20381070;10489445;10595511;12692556;12951563;15128850;16215275;20812987;20936779;20400958;20696765;20711218;21447808;20846184;21402697;21569526;22939629;21548210;21327297;21757538;15952105;22053931;22505724;20639865;21269984;21900206;23358418;22668020;21681778;21693764;21906983;19471022;22530308;22586326;21044950;21139048;21890473;23000965;22628549 396 J3KRE2;J3KRY1;J3KS60;J3KTF8;J3QQX2;P52565 ABBA01019648;ABBA01019649;AC137723;AC145207;AF498926;AK293147;AK300816;AK312347;AMYH01008721;AMYH01008722;BC005851;BC005875;BC007630;BC008701;BC009759;BC013846;BC016031;BC016185;BC024258;BC027730;BC028333;BC075827;BC106044;BM552638;BT006884;CH471099;CR456777;D13989;DC406556;M97579;NM_001185077;NM_001185078;NM_004309;X63863;X69550 AAA36566;AAH05851;AAH05875;AAH08701;AAH09759;AAH16031;AAH16185;AAH24258;AAH27730;AAH75827;AAI06045;AAM21074;AAP35530;ABM82043;ABM85222;BAA03096;BAG35268;BAG56694;BAG62471;CAA45344;CAA49281;CAG33058;EAW89697;EAW89698;NP_001172006;NP_001172007;NP_004300;P52565 Hs.159161 2115369 RH16023 GDIA1;MGC117248;NPHS8;RHOGDI;RHOGDI-1 rho GDI 1;rho GDP-dissociation inhibitor 1;rho-GDI alpha APPROVED protein-coding ENSG00000141522 678 03565 601925;615244 VALIDATED 1605662 ARHGEF10L Rho guanine nucleotide exchange factor (GEF) 10-like ARHGEF10L is a member of the RhoGEF family of guanine nucleotide exchange factors (GEFs) that activate Rho GTPases (Winkler et al., 2005 [PubMed 16112081]).[supplied by OMIM, Dec 2008] 1 1 1 p36.13 16191428 16350418 + 17738917 17896957 + 17866330 18024370 + 6480464 18849993;16112081;14702039;12477932;10997877;16169070;19911011;20379614;22095909;23251661 55160 B4DTE2;Q5VXI4;Q8NAV5 AB046846;ABBA01000279;ABBA01000280;ABBA01000281;ABBA01000282;ABBA01000283;ABBA01000284;AK001383;AK092020;AK123471;AK126877;AK129606;AK129959;AK300174;AK300264;AK311076;AL139250;AL358593;AL390994;AMYH01000300;AMYH01000301;AW455769;BC003073;BC029928;BC065561;BC080596;BC111058;BC117171;BC143347;BX538146;CH471134;DQ139833;NM_001011722;NM_018125 AAH65561;AAH80596;AAI17172;AAI43348;AAZ73162;ADR83391;BAA91663;BAB13452;BAC03792;BAG54386;BAG61954;BAG62025;EAW94840;EAW94841;EAW94842;EAW94843;EAW94844;NP_001011722;NP_060595;Q9HCE6 Hs.443460 1648308;1663104;1732844;1733172;1735966;1761805;2123123;2133678;2180185;5022450;5024413;5037552 D10S275;D1S1283;D1S1474;D1S1954E;D1S544;D8S2279;G17701;HSC1HH062;L17877;SHGC-145764;SHGC-74299;SHGC-74357 FLJ10521;GrinchGEF;KIAA1626;RP11-473A10.1 OTTHUMP00000002615;OTTHUMP00000002616;OTTHUMP00000002617;rho guanine nucleotide exchange factor 10-like protein APPROVED protein-coding ENSG00000074964 25540 07679 612494 VALIDATED 1313380 ARHGDIB Rho GDP dissociation inhibitor (GDI) beta Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The GTP-binding proteins are active only in the GTP-bound state. At least 3 classes of proteins tightly regulate cycling between the GTP-bound and GDP-bound states: GTPase-activating proteins (GAPs), guanine nucleotide-releasing factors (GRFs), and GDP-dissociation inhibitors (GDIs). The GDIs, including ARHGDIB, decrease the rate of GDP dissociation from Ras-like GTPases (summary by Scherle et al., 1993 [PubMed 8356058]).[supplied by OMIM, Dec 2010] 12 12 p12.3 14986217 15005829 - 15094950 15114562 - 1580863;6480464;6907045 8262133;8356058;16130169;8434008;9113980;19351766;19321744;19276387;19269969;18689726;18676680;18037226;18006811;17826660;17487395;15592455;15489334;15173088;12477932;12386169;12203895;11989976;11368848;10779444;10664460;10655614;9799233;9490022;9287351;7896279;7513052;2226408;18303015;11809807;19064571;19170196;19509238;19625176;19692168;20013033;8626669;20596634;20375790;21067243;21832049;21695085;19655254;22505724;21861235;22353809;21986528;21890473;21900206;21936715;22406535;22364609;22674302;22777355;23206989;22469974;7782346 397 F5H2R5;F5H3P3;F5H6Q0;H0YGX7;P52566 AA143425;AB451315;AB451445;ABBA01067887;AC007655;AF498927;AK311807;AMYH01004304;BC009200;CH471094;FB571118;FB668249;L07916;L20688;NM_001175;X69549 AAA59539;AAH09200;AAM21075;ABM84229;ABM87475;BAG34750;BAG70129;BAG70259;CAA49280;CAR95110;CAS92768;EAW96336;EAW96337;EAW96338;EAW96339;EAW96340;EAW96341;EAW96342;NP_001166;P52566 Hs.504877 1725981;1734008;1795390;2130074;5123285 ARHGDIB_1466;D12S1115;G62403;RH126;SHGC-12871 D4;GDIA2;GDID4;LYGDI;Ly-GDI;RAP1GN1;RhoGDI2 OTTHUMP00000239340;OTTHUMP00000239341;OTTHUMP00000239342;OTTHUMP00000239343;OTTHUMP00000239344;Rho GDI 2;rho GDP-dissociation inhibitor 2;rho-GDI beta APPROVED protein-coding ENSG00000111348 679 04162 602843 VALIDATED 1346816 ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. [provided by RefSeq, Jul 2008] 8 8 8 p23 1715545 1849273 + 1759556 1894214 + 1772149 1906807 + 1580863;6480464;7240710 17893707;16896804;15489334;15146197;14508709;12477932;12168954;9314494;9205841;19615732;19635168;20042462;20379614;21719701;21743172;22863883;23412934 9639 E9PB39;H0YAN8;O15013 AA758332;AB002292;ABBA01016746;ABBA01016747;ABBA01016748;AC019257;AF009205;AI348138;AK309799;AL137508;AMYH01018279;AMYH01018280;BC026965;BC036809;BC040474;BC112926;CH471181;CN307765;CQ766815;CR749570;NG_008480;NM_014629 AAB71662;AAH36809;AAH40474;AAI12927;BAA20754;CAF33078;CAH10696;CAH18365;EAW51480;EAW51481;EAW51482;EAW51483;EAW51484;NP_055444;O15013 Hs.98594 1643868;1679209;1685914;1708676;1715849;1727737;1771933;2115107;2134908;2183433;2217022;5037552 AF009206;AF009213;AF009214;ARHGEF10_3936;D8S2279;G63133;RH119618;RH79054;RH92255;RH98569;SHGC-81479;WI-11694 DKFZp686H0726;GEF10;MGC131664 OTTHUMP00000224478;OTTHUMP00000224479;OTTHUMP00000224480;OTTHUMP00000224481;rho guanine nucleotide exchange factor 10 APPROVED protein-coding ENSG00000104728 14103 09735 608136;608236 REVIEWED 1321818 ARHGDIG Rho GDP dissociation inhibitor (GDI) gamma The GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activation of GTPases by inhibiting the exchange of GDP for GTP. See ARHGDIB (MIM 602843).[supplied by OMIM, Nov 2010] 16 16 16 p13.3 530508 532906 + 270607 273004 + 330606 333003 + 1580863;6480464 9113980;15616553;15513926;15489334;12477932;11967128;11157797;9787082;8939998;8889548;11809807;14764880;21697133;20098615 398 A2ID99;C9J3B5;C9J9L9;C9JR26;F1T0H7;Q99819 AB593111;ABBA01030379;ABBA01030380;ABBA01030381;AE006463;AF080237;AF498928;AMYH01006988;BC047699;BM662457;BU732723;CH471112;NM_001176;U82532;Z69667 AAC33138;AAC72354;AAH47699;AAK61222;AAM21076;BAJ84051;CAI95584;CAI95585;CAM26353;EAW85837;NP_001167;Q99819 Hs.647388 1655114;1800744;1802368;1809570;1813390;1814346;1820840;1821132;1821192;1842726;2048400;2048402;2048404;2048406;2048410;2048412;2048414;2048416;2048418;2048420;2048422;2048424;2048430;2048432;2048436;2048440;2048444;2048446;2048448;2048450;2048452;2048454;2048456;2048458;2048460;2048462;2048464;2048466;2048468;2048470;2048472;2048474;2048476;2048478;2048480;2048482;2048484;2104578;2104580;2104582;2104584;2104586 ECD01233;ECD02068;ECD05777;ECD07716;ECD08202;ECD11496;ECD11643;ECD11673;ECD22570;REN95338;REN95339;REN95340;REN95341;REN95343;REN95344;REN95345;REN95346;REN95347;REN95348;REN95349;REN95350;REN95353;REN95354;REN95356;REN95358;REN95360;REN95361;REN95362;REN95363;REN95364;REN95365;REN95366;REN95367;REN95368;REN95369;REN95370;REN95371;REN95374;REN95375;REN95376;REN95377;REN95378;REN95379;REN95380;REN95381;REN95382;RH71265;stSG608995;stSG608996;stSG608998;stSG608999;stSG609003 RHOGDI-3 OTTHUMP00000067352;OTTHUMP00000067353;OTTHUMP00000194914;RhoGDI gamma;rho GDI 3;rho GDP-dissociation inhibitor 3;rho-GDI gamma APPROVED protein-coding ENSG00000242173 680 04163 602844 VALIDATED 1351280 ARHGEF1 Rho guanine nucleotide exchange factor (GEF) 1 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008] 19 19 q13.13 47079107 47103444 + 42387267 42411604 + 6480464;6484113 12270917;8810315;12681510;10747909;11313914;10648409;18320579;17493936;15753034;15735747;15489334;15143072;14712228;12754211;12748184;12534370;12525488;12477932;12372594;11524686;11384980;11358341;9641916;9641915;9135076;10556093;14634662;12581858;10608806;21145461;22661716;20936779;12692556;12951563;16215275;17335080;17643375;18029348;19720875;19911011;20619149;19913121;20628086;21064165;21454492;22863883;23070684;15090612;21890473;21900206;21906983;22086927;22500016;22505724 9138 M0QXV6;M0QYC1;M0QYS3;M0QZH8;M0QZR4;M0R1K8;M0R2C7;M0R3H5;Q6NX52;Q92888 ABBA01040816;ABBA01040817;AC010616;AK026781;AL832294;AMYH01009820;BC005155;BC011726;BC015652;BC034013;BC035127;BC064996;BC067262;BM147791;BQ944132;BT007421;CH471126;NM_004706;NM_198977;NM_199002;U64105 AAB17896;AAH05155;AAH11726;AAH34013;AAH35127;AAH67262;AAP36089;ABM84518;ABM85930;ACE87053;ACE87735;EAW57077;EAW57078;EAW57079;EAW57080;EAW57081;EAW57082;EAW57083;EAW57084;NP_004697;NP_945328;NP_945353;Q92888 Hs.631550 1643897;1689927;5016478 GDB:434012;RH92886;WI-15934 GEF1;LBCL2;LSC;P115-RHOGEF;SUB1.5 115 kDa guanine nucleotide exchange factor;115-kD protein;Lsc homolog;p115RhoGEF;rho guanine nucleotide exchange factor 1 APPROVED protein-coding ENSG00000076928 681 03511 601855 REVIEWED 734056 ARHGEF11 Rho guanine nucleotide exchange factor (GEF) 11 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 q21 155171256 155281786 - 156904632 157015162 - 1580863;6480464 15755723;10026210;19460155;18231709;18086913;17369523;17287471;17081983;16710414;16691626;16478718;16192272;15143072;14742719;14684465;14625312;12477932;12421765;12372594;12183458;11470431;11242047;10900204;10526156;9205841;12730235;12220504;12123608;21210224;21454492;11756498;12376548;12787561;15530360;16192269;17474147;18029348;19618964;19759375;20379614;20800603;20936779;20613766;21816819;21139048;19322201;17620599 9826 F8W8P9;O15085 AB002378;ABBA01016640;ABBA01016641;AK302500;AL157713;AL356104;AL832790;AMYH01001441;BC057394;CH471121;NM_014784;NM_198236 AAH57394;BAA20834;BAH13728;EAW52892;EAW52893;EAW52894;NP_055599;NP_937879;O15085 Hs.516954 1664946;1692132;1703378;1755699;1761947;1766261;2123832;2124635;2133873 AL034019;RH45970;RH64623;RH68042;SHGC-142538;SHGC-145882;SHGC-149619;SHGC-68674;STS-AA039568 DKFZp667F1223;GTRAP48;KIAA0380;PDZ-RHOGEF OTTHUMP00000038716;OTTHUMP00000038717;Rho guanine exchange factor (GEF) 11;RhoA-specific guanine nucleotide exchange factor;RhoGEF glutamate transport modulator;glutamate transporter EAAT4-associated protein 48;rho guanine nucleotide exchange factor 11;rhogef glutamate transport modulator gtrap48 APPROVED protein-coding ENSG00000132694 14580 09302 605708 REVIEWED 6481190 ARHGEF19-AS1 ARHGEF19 antisense RNA 1 100874233 AL109627 APPROVED miscrna 39996 1312400 ARHGEF19 Rho guanine nucleotide exchange factor (GEF) 19 Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008] 1 1 1 p36.13 15004527 15018992 - 16397186 16411691 - 16524599 16539104 - 737633;1580863;6480464 12477932 15485661;14702039;21906983 128272 H0Y4D8;Q5TEV0;Q8IW93 ABBA01004679;AK091281;AK297707;AL109627;AL137736;AMYH01000280;BC012982;BC040640;CH471167;NM_153213 AAH12982;AAH40640;BAC03627;BAG60064;EAW51771;NP_694945;Q8IW93 Hs.591532 1678835;1696720;2107849 ARHGEF19_8138;RH91904;SHGC-77876 FLJ33962;RP4-733M16.1;WGEF OTTHUMP00000002239;ephexin-2;rho guanine nucleotide exchange factor 19;weakly similar to Rho GEF APPROVED protein-coding ENSG00000142632 26604 10659 612496 PROVISIONAL 1312950 ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 11 11 q23.3 119713156 119865855 + 120207618 120360645 + 1580863;6480464;6907045;7240710 11094164;15755723;16192269;19273616;19074425;18411422;17766704;16644711;16565089;16192274;15345747;15331592;15143072;12515866;12477932;12376551;12372594;12220504;12196628;12183458;11799111;11724822;11373293;10681437;9205841;14712228;21454492;20018869;20702813;20800603;11756498;12123608;12376548;12787561;19560536;19734946;19911011;20348106;20379614;21670212;17620599;22962269;21139048;22100544;20963938;23405219;23207522;22190034 23365 B4E2K6;E9PMR6;Q9NZN5 AB002380;ABBA01039657;ABBA01039658;AF119898;AF180681;AK294803;AK304316;AL137456;AMYH01004089;AMYH01004090;AP000659;AP000758;AP001150;BC031784;BC063117;BX647785;BX648515;CH471065;NG_027960;NM_001198665;NM_015313 AAF36817;AAF69652;AAH63117;AAI52901;BAA20836;BAG57923;BAG65168;EAW67508;EAW67509;EAW67510;NP_001185594;NP_056128;Q9NZN5 Hs.24598 1652387;1676724;1752881;2117313;2123358;2130249;2131237;2164818;2164820;2171067;2172226;2218726;5093484;7186097;7186098 A005R48;A009P33;ARHGEF12_3798;D11S2318E;D11S4343;G20457;G29223;G32745;RH17448;RH36486;RH92805;SHGC-106833;WI-21762 DKFZp686O2372;KIAA0382;LARG;PRO2792 OTTHUMP00000231993;OTTHUMP00000231994;leukemia-associated RhoGEF;leukemia-associated rho guanine nucleotide exchange factor;rho guanine nucleotide exchange factor 12 APPROVED protein-coding ENSG00000196914 14193 09207 601626;604763 REVIEWED 1320476 ARHGEF17 Rho guanine nucleotide exchange factor (GEF) 17 11 11 11 q13.4 70324908 70385824 + 72697317 72757784 + 73019663 73080425 + 1580863;6480464 12071859;18029348;18677770;12477932;11559528;9205841;8889548;15778465;11756498;12376548;12787561;19911011;21139048;23284291;22911862 9828 H0YFZ8;Q96PE2 AB002335;ABBA01017522;AF378754;AI312037;AK074500;AMYH01003801;AMYH01003802;AP000562;AP002761;BC050031;BC137228;BM684780;CH471076;NM_014786 AAH50031;AAI37229;AAL11991;BAA20795;EAW74891;NP_055601;Q96PE2 Hs.533719;Hs.573929 1644877;1652016;1782276 RH16016;SHGC-112124;WI-18441 FLJ90019;KIAA0337;P164RHOGEF;TEM4;p164-RhoGEF 164 kDa Rho-specific guanine-nucleotide exchange factor;OTTHUMP00000237515;Rho-specific guanine-nucleotide exchange factor 164 kDa;rho guanine nucleotide exchange factor 17;tumor endothelial marker 4 protein-coding ENSG00000110237 21726 10658 VALIDATED 1322915 ARHGEF18 Rho/Rac guanine nucleotide exchange factor (GEF) 18 Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] 19 19 19 p13.3 7331115 7409876 + 7351866 7443371 + 7459999 7537371 + 1580863;6480464 16344560;14512443;12477932;11318610;11085924;9628581;20810787;11756498;12376548;12787561;17643375;20200978;21258369;20811636;18029348;22006950 23370 M0QZS0;M0R125;Q6ZSZ5 AA609742;AA829883;AB011093;ABBA01006121;ABBA01006122;ABBA01006123;ABBA01006124;ABBA01006125;ABBA01006126;ABBA01006127;ABBA01006128;ABBA01010902;ABBA01010903;ABBA01010904;AC008878;AC119396;AK074372;AK127045;AMYH01009403;AMYH01009404;AMYH01009405;BC008016;BC014994;BC077721;BQ055909;BX404969;DB075637;NM_001130955;NM_015318 AAH77721;BAA25447;BAC86801;NP_001124427;NP_056133;Q6ZSZ5 Hs.465761;Hs.736818 1340746;1770216;1775484;2107847;2157737 2058;ARHGEF18_8009;D19S901;RH78224;WI-14772 KIAA0521;MGC15913;P114-RhoGEF 114 kDa Rho-specific guanine nucleotide exchange factor;P114-RHO-GEF;Rho-specific guanine nucleotide exchange factor p114;Rho/Rac guanine nucleotide exchange factor 18;SA-RhoGEF;p114RhoGEF;rho guanine nucleotide exchange factor 18;septin-associated RhoGEF APPROVED protein-coding ENSG00000104880 17090 12479 REVIEWED 1347062 ARHGEF16 Rho guanine nucleotide exchange factor (GEF) 16 Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq, Jul 2008] 1 1 1 p36.3 2624447 2650733 + 3369982 3387537 + 3371147 3397677 + 6480464 16710414;16344560;15489334;14702039;12477932;15778465;22889411;20339536;20679435;11756498;12376548;12787561;19911011;19707205;21139582;15161933 27237 B0QZD3;B0QZD4;B3KTS4;B4DJM7;Q5VV41 ABBA01073658;ABBA01073659;ABBA01073660;AK091910;AK095984;AK296150;AK310408;AL512413;AMYH01000188;AMYH01000189;BC002681;BC051838;BT007270;CH471130;D89016;DA539376;DB499586;NM_014448 AAH02681;AAH51838;AAP35934;ABM84739;ABM92254;BAA13745;BAG53186;BAG58889;EAW71452;EAW71453;NP_055263;Q5VV41 Hs.87435 1770023;2113216 D1S3709E;SHGC-74074 GEF16;NBR OTTHUMP00000000683;OTTHUMP00000000684;OTTHUMP00000000685;Rho guanine exchange factor (GEF) 16;ephexin-4;rho guanine nucleotide exchange factor 16 APPROVED protein-coding ENSG00000130762 15515 12478 REVIEWED 1315873 ARHGEF15 Rho guanine nucleotide exchange factor (GEF) 15 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010] 17 17 17 p13.1 8244326 8256604 + 8154315 8166554 + 8213556 8225834 + 1580863;6480464;6484113 16189514;15489334;14702039;12775584;12477932;12168954;10048485;15604093;19911011;16344560;21029857;23029280;21029865 22899 J3KT46;J3QQS4;J3QS60;O94989 AB020722;ABBA01054911;AC135178;AK023853;AK291626;AK300327;AL601528;AMYH01008090;BC036749;BQ004849;BQ877184;CH471108;DA632576;DB279954;NM_025014;NM_173728 AAH36749;BAA74938;BAF84315;BAG62077;EAW90060;EAW90061;NP_079290;NP_776089;O94989 Hs.443109 1686879;1694428;2130553;5037552 D8S2279;G42912;RH78291;RH80720 ARGEF15;E5;Ephexin5;FLJ13791;KIAA0915;MGC44868;Vsm-RhoGEF OTTHUMP00000135329;Rho GEF 15;Rho guanine exchange factor (GEF) 15;ephexin-5;rho guanine nucleotide exchange factor 15 APPROVED protein-coding ENSG00000198844 15590 10535 608504 REVIEWED 1601833 ARHGEF25 Rho guanine nucleotide exchange factor (GEF) 25 Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 12 12 q13.3 56291485 56297293 + 58003963 58011028 + 6480464 20739613;18096806;16496360;16314529;15632174;15322108;15069594;12547822;12477932;11861769;18851832;18936096;21663592;21885830;22147804;21832057 115557 Q86VW2 AB370196;ABBA01026695;AC025165;AF487514;AI677902;AMYH01004522;BC012860;BC018536;BC047559;DB481981;NM_001111270;NM_182947;NR_046223 AAH12860;AAH18536;AAH47559;AAO49463;BAF94999;NP_001104740;NP_891992;Q86VW2 Hs.61581 1681919;2218522 DTX3__4788;RH94136 GEFT;p63RhoGEF OTTHUMP00000201858;OTTHUMP00000201859;RhoA/RAC/CDC42 exchange factor;guanine nucleotide exchange factor GEFT;rac/Cdc42/Rho exchange factor GEFT;rho guanine nucleotide exchange factor 25;rhoA/Rac/Cdc42 guanine nucleotide exchange factor GEFT APPROVED protein-coding ENSG00000240771 30275 13573 610215 VALIDATED 6481155 ARHGEF3-AS1 ARHGEF3 antisense RNA 1 3 56974068 56994882 + 100874200 ABBA01024429;AC099327;AC099559;AMYH01013212;BX090838;NR_046572 Hs.549631 APPROVED miscrna ENSG00000240198 40083 VALIDATED 3516342 ARHGEF33 Rho guanine nucleotide exchange factor (GEF) 33 2 2 p22.1 38987224 39043310 + 39146504 39202590 + 14702039;15815621 100271715 A8MVX0;H7C1C9;H7C3S6 ABBA01075022;AC018693;AC019171;AK123375;AMYH01010269;AW468668;BX116314;DV080125;DV080126;DV080278;DV080660;DY654603;DY654636;NM_001145451 A8MVX0;NP_001138923 Hs.99841 1694802;1697402;1719037;1719065;1721629;1734850 D2S1598E;G43628;G59825;RH102201;RH123225;RH123836 FLJ41381 DH and coiled-coil domain-containing protein ENSP00000381780;OTTHUMP00000204068;rho guanine nucleotide exchange factor 33 protein-coding ENSG00000214694 37252 VALIDATED 1603402 ARHGEF26 Rho guanine nucleotide exchange factor (GEF) 26 This gene encodes a member of the Rho-guanine nucleotide exchange factor (Rho-GEF) family. These proteins regulate Rho GTPases by catalyzing the exchange of GDP for GTP. The encoded protein specifically activates RhoG and plays a role in the promotion of macropinocytosis. Underexpression of the encoded protein may be a predictive marker of chemoresistant disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 3 3 3 q25.2 152256672 152396290 + 155321884 155457031 + 153838792 153975616 + 6480464 15221005;12697679;16344560;15133129;14702039;12477932;22383878;21332407;22824926 26084 B3KXG0;Q9H9D7 AB073386;ABBA01058871;ABBA01058872;ABBA01058873;AC018452;AF415175;AF415176;AK022655;AK022884;AK123040;AK127282;AL117429;AMYH01013589;AMYH01013590;AY552599;BC016628;BC078655;CH471052;DA248533;DB069290;FJ695204;NG_030405;NM_001251962;NM_001251963;NM_015595 AAH16628;AAH78655;AAL27001;AAL27002;AAS59842;BAB14159;BAB14292;BAD38637;BAG53860;BAG54472;CAB55918;EAW78764;NP_001238891;NP_001238892;NP_056410;Q96DR7 Hs.240845 1338640;1651927;1661080;1698022;1713453;1720105;1771880;2106605;2164068;5037552;5124909 A004B27;D3S2374;D3S3058;D3S3677;D8S2279;RH102541;RH119585;RH123794;RH93982;SGEF__5393;SHGC-30578 CSGEF;DKFZp434D146;HMFN1864;SGEF OTTHUMP00000217165;OTTHUMP00000217166;OTTHUMP00000217167;SH3 domain-containing guanine exchange factor;Src homology 3 domain-containing guanine nucleotide exchange factor;rho guanine nucleotide exchange factor 26 APPROVED protein-coding ENSG00000114790 24490 11554 REVIEWED 5144507 ARHGEF26-AS1 ARHGEF26 antisense RNA 1 3 3 q25 152159707 152256522 - 153742190 153838999 - 12477932 100507524 ABBA01058873;AC018452;AC068985;AC073908;AC128717;AMYH01013589;BC038431;NR_037901 Hs.370221 1749993;2142228;2147710;2183741 078XF7;SHGC-10223;SHGC-111699;SHGC-57137 APPROVED miscrna ENSG00000243069 41048 VALIDATED 1312226 ARHGEF2 Rho/Rac guanine nucleotide exchange factor (GEF) 2 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009] 1 1 q21-q22 154183269 154214575 - 155916630 155948336 - 6480464;6484113;6907045 22298430;22513363;22898781;9857026;18287519;18095154;17488622;16964243;16778209;16565220;16381901;15866167;15827085;15489336;15324660;15302935;15146197;14970201;14702039;14676191;12477932;12384139;11912491;11595749;11230166;11076863;9734811;2466560;9843499;17353931;21352810;11756498;12376548;12787561;17643375;19043560;19615732;19625450;19667072;19805522;19911011;20089843;21212278;18211802;20803552;20558775;23022380;23383273;21513698;22226472;17314511;21887730;19596686;22072711;21139048;21906983;22226621;19322201;22002306;22301607;21525035;22678362;22959728;23000965;22593214;22505724 9181 Q5VY93;Q92974 AB014551;ABBA01016680;AF486838;AI925929;AK127366;AK295924;AK304548;AL355388;AL512715;AL832538;AMYH01001433;BC020567;BC027722;BT007407;CH471121;CN264153;CN388788;NM_001162383;NM_001162384;NM_004723;U72206;X15610 AAC97383;AAH20567;AAL96658;AAP36075;ABM82415;ABM85604;BAA31626;BAG58711;BAH14213;CAA33634;CAC21656;CAL38183;EAW53012;EAW53013;EAW53014;EAW53015;EAW53016;EAW53017;EAW53018;NP_001155855;NP_001155856;NP_004714;Q92974 Hs.743352 1684999;1731351;1846700;1851322;2110261;2161367 ARHGEF2_7937;D21S1418;G15881;RH12218;RH70822;RH93673 DKFZp547L106;DKFZp547P1516;FLJ45440;GEF;GEF-H1;GEFH1;KIAA0651;LFP40;P40 OTTHUMP00000018854;OTTHUMP00000018855;OTTHUMP00000018856;OTTHUMP00000018857;Rho/Rac guanine nucleotide exchange factor 2;guanine nucleotide exchange factor H1;microtubule-regulated Rho-GEF;proliferating cell nucleolar antigen p40;rho guanine nucleotide exchange factor 2 APPROVED protein-coding ENSG00000116584 682 10458 607560 VALIDATED 6480965 ARHGEF38-IT1 ARHGEF38 intronic transcript 1 (non-protein coding) 4 106482748 106491395 + 100874374 ABBA01063735;AC004066;AMYH01014443;BX108310;NR_046840 Hs.668908 miscrna 41483 PREDICTED 7243794 ARHGEF34P Rho guanine nucleotide exchange factor (GEF) 34, pseudogene 12477932;15252450;9847074 728377 ABBA01000976;ABBA01153768;AC004889;AC074386;AMYH01018074;BC107871;DQ786236;DQ786285;NR_033942 AAI07872 Hs.744262 1699346 RH103260 pseudo 38086 VALIDATED 6892765 ARHGEF28 Rho guanine nucleotide exchange factor (GEF) 28 This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] 5 q13.2 72921983 73237818 + 6480464 22835604;23509962;10574993;11058585;11533041;12056414;12477932;14702039;17595347;18029348;19488899;20200978;20379614;21224360;21502573;8889548;9199174;22941224 64283 D6RAP0;D6RGZ3;Q9H6L3 AB082529;ABBA01061921;AC008387;AC026702;AC091868;AC093283;AK025470;AK025816;AK094713;AK129761;AK304761;AMYH01015406;AMYH01015407;BC012946;BC157846;BC171850;BG696752;CN478799;CR936816;NG_017198;NM_001080479;NM_001177693;NM_001244364 AAH12946;AAI57847;AAI67854;AAI71850;BAB15141;BAB15243;BAC02707;BAC04405;BAG65516;NP_001073948;NP_001171164;NP_001231293;Q8N1W1 Hs.482521 1650784;1656561;1660861;1686602;1709178;1711340;1719435;1725333;1725377;1729950;1755643;1856393;2123568;2144321;5015861;5016478;7185938 A007G27;AFMA189XH9;D10S16;D5S112;DYS397;GDB:434012;RH118984;RH119006;RH123435;RH12825;RH65196;RH77867;RH99129;SHGC-142494;SHGC-84925;SHGC-85752 RGNEF;RIP2;p190RHOGEF 190 kDa guanine nucleotide exchange factor;Rho interacting protein 2;p190-RhoGEF;rho guanine nucleotide exchange factor 28;rho-guanine nucleotide exchange factor protein-coding ENSG00000214944 30322 612790 REVIEWED 1604887 ARHGEF35 Rho guanine nucleotide exchange factor (GEF) 35 7 7 7 q35 138516492 138517348 - 143514610 143523669 - 143883176 143892791 - 12477932;16344560;21906983;19322201 445328 A5YM69 ABBA01000976;AC004889;AK125680;AMYH01018074;BC136868;BC136878;DA646728;EF560743;NM_001003702 A5YM69;AAI36869;AAI36879;ABQ59053;BAC86243;NP_001003702 Hs.534621 1854569 G27651 ARHGEF5L;CTAGE4;FLJ43692 ARHGEF5-like;OTTHUMP00000212575;Rho guanine nucleotide exchange factor (GEF) 5-like;rho guanine nucleotide exchange factor 35;rho guanine nucleotide exchange factor 5-like protein APPROVED protein-coding ENSG00000213214 33846 13476 VALIDATED 1321248 ARHGEF39 Rho guanine nucleotide exchange factor (GEF) 39 9 9 9 p13.3 35592890 35598827 - 35649341 35655278 - 35659341 35665278 - 737633;6480464 12477932 16344560;14702039;16189514;22327280;8125298;21139048;21906983;22505724 84904 Q8N4T4 ABBA01064988;AK001187;AK027548;AK225501;AK225529;AK303513;AL357874;AMYH01019347;AY390225;AY390226;BC033666;BC038673;CH471071;DB109516;NM_032818 AAH33666;AAR01010;AAR01011;BAB55192;BAG64543;EAW58360;EAW58361;EAW58362;EAW58363;NP_116207;Q8N4T4 Hs.744402 5015961;5020948;5037552 D15S1477;D8S2279;G35510 C9orf100;FLJ14642;MGC44886;RP11-331F9.7 OTTHUMP00000021339;OTTHUMP00000021340;OTTHUMP00000021341;rho guanine nucleotide exchange factor 39;vav-like protein C9orf100 APPROVED protein-coding ENSG00000137135 25909 12929 VALIDATED 1603216 ARHGEF38 Rho guanine nucleotide exchange factor (GEF) 38 4 4 4 q24 103772904 103851995 + 106693226 106772286 + 106473777 106602070 + 6480464 18519826;12477932;19911011;20010835;20332099;20379614 54848 Q9NXL2 ABBA01063735;AC004066;AC105391;AK000191;AK125951;AMYH01014443;BC105695;CH471057;DT932593;NM_001242729;NM_017700 AAI05696;BAA90998;EAX06185;EAX06186;EAX06187;NP_001229658;NP_060170;Q9NXL2 Hs.585224;Hs.652842;Hs.744739 1755467 SHGC-142334 FLJ20184;FLJ43963 OTTHUMP00000206608;OTTHUMP00000219756;rho guanine nucleotide exchange factor 38 APPROVED protein-coding ENSG00000236699 25968 08613 VALIDATED 6481181 ARHGEF7-AS1 ARHGEF7 antisense RNA 1 100874226 AL353704 APPROVED miscrna 39816 1602402 ARHGEF37 Rho guanine nucleotide exchange factor (GEF) 37 5 5 5 q32 145043054 145096412 + 148941328 148994720 + 148961135 149014527 + 6480464 14702039;12477932;23377640 389337 A1IGU5;D6RJH4 AB199796;ABBA01026300;ABBA01026301;AC021078;AC022100;AC116360;AK023814;AK123597;AK300355;AK300559;AK316002;AMYH01015701;BC041325;BF508325;BF510234;CH471062;NM_001001669 A1IGU5;BAC85655;BAF43710;BAG62096;BAG62265;BAH14373;EAW61765;EAW61766;NP_001001669 Hs.256206 1335371;1677484;1700426;1760647;5015861;7185938 D10S16;D5S812;RH103834;RH69939;SHGC-144191 FLJ41603 OTTHUMP00000224087;Rho guanine nucleotide exchange factor (GEF) 37;rho guanine nucleotide exchange factor 37 APPROVED protein-coding ENSG00000183111 34430 13454 VALIDATED 6481199 ARHGEF7-AS2 ARHGEF7 antisense RNA 2 100874238 AL353704 APPROVED miscrna 40717 1321712 ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 p14.3 56736486 56810993 - 56761446 57113336 - 6480464 10873612;19427924;19110211;18499081;16381901;16344560;15489336;15489334;14702039;12477932;12221096;11230166;11076863;8125298;21452313;11256614;11756498;12376548;12787561;19727905;19820697;19911011;20379614;16236267;19471022;22505724;23251661;23263863;22139419 50650 C9J586;C9J5K8;C9J609;C9JNF2;E7EU49;E9PG37;F8WC29;F8WDB7;H7C4P0;Q7Z5T2 AB209661;ABBA01024428;ABBA01024429;ABBA01024430;ABBA01024431;ABBA01024432;ABBA01024433;ABBA01024434;ABBA01024435;ABBA01024436;ABBA01024437;ABBA01024438;ABBA01024439;AC097358;AC099327;AC099559;AC099781;AF249744;AF433662;AK024340;AK225688;AK291412;AK293864;AK300045;AK302493;AK308178;AL136832;AMYH01013212;AMYH01013213;AMYH01013214;AMYH01013215;AX002254;AX775923;BC022249;BC054345;BC068513;BC094748;BC098122;BC098272;BC099715;BC104723;CH471055;DA401228;DC334437;DC334772;NM_001128615;NM_001128616;NM_019555 AAF79954;AAH54345;AAH68513;AAH98122;AAH98272;AAH99715;AAI04724;AAP97313;BAB14891;BAD92898;BAF84101;BAH11616;BAH13198;BAH13724;CAB66766;CAE11661;CAL37874;EAW65325;EAW65326;NP_001122087;NP_001122088;NP_062455;Q9NR81 Hs.476402 1698034;1723075;1727387;1750475;1755349;1765309;1766617;1784576;1784584;1784606;1848816;1849579;2144254;2166089;2217024 ARHGEF3_3819;D3S2400;D3S3994;D3S4139;G63101;RH102548;RH121889;SHGC-110754;SHGC-111452;SHGC-111779;SHGC-111964;SHGC-142232;SHGC-148804;SHGC-149919;WIAF-1489 DKFZp434F2429;FLJ98126;GEF3;MGC118905;STA3;XPLN 59.8 kDA protein;OTTHUMP00000213598;OTTHUMP00000213599;OTTHUMP00000213600;OTTHUMP00000213602;OTTHUMP00000213603;OTTHUMP00000213612;RhoGEF protein;exchange factor found in platelets and leukemic and neuronal tissues, XPLN;rho guanine nucleotide exchange factor 3 APPROVED protein-coding ENSG00000163947 683 12480 612115 REVIEWED 6480964 ARHGEF7-IT1 ARHGEF7 intronic transcript 1 (non-protein coding) 100874371 AL353704 miscrna 41408 6481062 ARHGEF9-IT1 ARHGEF9 intronic transcript 1 (non-protein coding) 100874355 AL391277 miscrna 41401 1312054 ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013] 2 2 q22 131390694 131521306 + 131674224 131804836 + 1580863;6480464 10947987;18653540;17002498;12598901;12477932;12168954;10873612;10470851;15572129;20936779;11756498;12376548;12787561;17588722;19525225;19628279;17599059;22543972;21788986;22745667 50649 A4QPB6;E7EV07;E9PEM0;H0Y451;H0YCT6;Q9NR80 AB029035;AB042199;ABBA01004568;ABBA01019376;ABBA01019377;ABBA01019378;AC009477;AC112786;AF249745;AL137289;AMYH01011085;BC036579;BC139742;CH471250;DQ424905;NM_015320;NM_032995 AAF79955;AAI39743;AAI60189;AAX93134;AAY24311;ABD83670;BAA83064;BAB11941;CAB70681;EAW51269;EAW51270;EAW51271;NP_056135;NP_127462;Q9NR80 Hs.469935 1705588;1774703;1849883;1849885;2106433;2142272;2170673 A001Y27;ARHGEF4_3818;G16357;G19788;RH47476;SHGC-83902;WI-10324 ASEF;ASEF1;GEF4;STM6 APC-stimulated guanine nucleotide exchange factor;APC-stimulated guanine nucleotide exchange factor 1;OTTHUMP00000162429;OTTHUMP00000203957;OTTHUMP00000203960;OTTHUMP00000232481;rho guanine nucleotide exchange factor 4 APPROVED protein-coding ENSG00000136002 684 05559 605216 REVIEWED 1603998 ARHGEF40 Rho guanine nucleotide exchange factor (GEF) 40 14 14 14 q11.2 1399096 1418597 + 20608367 20627876 + 21538527 21558036 + 6480464 16143467;14702039;12693554;12477932;16169070;21832049;21987572;21139048;21890473;21906983;21963094;23000965 55701 G3V3N2;G3V485;G3V5C1;Q8TER5 ABBA01061239;AK001219;AK024463;AK074057;AK126755;AL137291;AL161668;AMYH01005593;BC000084;BC009992;BC142692;BC144317;BC151212;BF339938;BQ447317;BX248768;CH471078;HY010070;HY277017;NM_001278529;NM_001278530;NM_018071;T97121 AAH00084;AAI42693;BAA91563;BAB15753;BAB84883;CAB70682;CAD66575;EAW66410;EAW66411;EAW66412;EAW66413;EAW66414;EAW66415;EAW66416;NP_001265458;NP_001265459;NP_060541;Q8TER5 Hs.35125 1335484;1647366;1767733;1850019;1853000;2121138;2191765 A002S30;D14S1070;G27462;MARC_7201-7202:996687628:3;RH70031;RH70501;WI-11857 FLJ10357;SOLO OTTHUMP00000245893;protein SOLO;rho guanine nucleotide exchange factor 40 APPROVED protein-coding ENSG00000165801 25516 13335 610018 VALIDATED 1343816 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation. [provided by RefSeq, Jul 2008] X X q26.3 135575375 135691169 - 135747709 135863503 - 1580863;1599214;6480464;6907045;7240710 11017088 11937491;9582122;11564864;18029348;17405911;17081983;16964243;16897755;16320026;16094384;15772651;15761153;15649357;15611136;15489334;15324660;15302935;15242552;15144186;12935897;12499396;12477932;11337747;10896954;10523848;9783701;9659915;7584048;7584028;7584026;10559302;10428811;12006652;11756498;12376548;12787561;15688026;16374509;16983070;19672789;19911011;19918261;19969308;11864573;17620599;21900206;22118674;15306850;22505724 9459 B7Z3C7;Q15052;Q8N4Q3 ABBA01055930;ABBA01055931;ABBA01055932;ABBA01055933;ABBA01055934;ABBA01055935;ABBA01055936;ABBA01055937;ABBA01055938;ABBA01055939;ABBA01055940;ABBA01055941;ABBA01055942;ABBA01055943;ABBA01055944;AF207831;AK129909;AK291742;AK294929;AK295709;AK299861;AL135783;AL683813;AMYH01023050;BC033768;BC039856;BC043505;BE243825;BX537390;CH471150;D13631;D25304;NG_008873;NM_004840 AAG27169;AAH33768;AAH39856;AAH43505;BAA02796;BAA04985;BAF84431;BAH11929;BAH12163;BAH13153;CAD97632;EAW88460;EAW88461;NP_004831;Q15052 Hs.522795 1648712;1652152;1666578;1668687;1776976;1792622;2107851;2160941;5111488 ARHGEF6_7947;G10668;G18212;PMC155158P3;RH17397;RH25247;RH77692;SGC30410;SHGC-31468 COOL2;Cool-2;KIAA0006;MRX46;PIXA;alpha-PIX;alphaPIX OTTHUMP00000024134;OTTHUMP00000024135;OTTHUMP00000024136;PAK-interacting exchange factor alpha;PAK-interacting exchange factor, alpha;Rac/Cdc42 guanine exchange factor (GEF) 6;mental retardation, X-linked 46;rac/Cdc42 guanine nucleotide exchange factor 6;rho guanine nucleotide exchange factor 6 APPROVED protein-coding ENSG00000129675 685 02226 300267;300436 REVIEWED 1348513 ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. Defects in this gene are a cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] X X X q11.1 63201689 63352277 - 62771573 62891718 - 62854848 63005426 - 6480464;7240710 18208356;15772651;15489334;15342556;15215304;12477932;11727829;10607391;10559246;9455477;11756498;12376548;12787561;16344560;19911011;20936779;20622020;22033413;21807943;21633362;20301437;22745667;22778260 23229 B1AMR3;B1AMR4;B4DGQ8;O43307 AB007884;ABBA01066807;ABBA01066808;ABBA01066809;ABBA01066810;ABBA01066811;ABBA01066812;ABBA01066813;ABBA01066814;ABBA01066815;ABBA01066816;ABBA01066817;ABBA01066818;ABBA01066819;ABBA01066820;ABBA01066821;ABBA01066822;ABBA01066823;AK289993;AK294721;AK295033;AK295178;AL355142;AL391277;AL451106;AL832116;AMYH01022492;BC018106;BC043497;BC046138;BC056892;BC117406;BP270451;CH471132;DB227223;NG_016975;NM_001173479;NM_001173480;NM_015185 AAI17407;ADR83209;BAA24854;BAF82682;BAG57869;BAG58088;BAG58186;EAX05416;EAX05417;EAX05418;NP_001166950;NP_001166951;NP_056000;O43307 Hs.54697 1682932;2125341;2162110 B324ZC5;DXS7000E;DXS7485 COLLYBISTIN;EIEE8;HPEM-2;KIAA0424;PEM-2;PEM2 OTTHUMP00000023424;OTTHUMP00000023425;OTTHUMP00000023427;PEM-2 homolog;hPEM-2 collybistin;rac/Cdc42 guanine nucleotide exchange factor 9;rho guanine nucleotide exchange factor 9 APPROVED protein-coding ENSG00000131089 14561 02337 300429;300607 REVIEWED 735723 ARHGEF5 Rho guanine nucleotide exchange factor (GEF) 5 Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008] 7 7 7 q35 138733824 138751769 + 143683422 143708658 + 144052489 144077725 + 1580863;6480464 8134109;12006984;18444243;15951569;15681748;15489334;14702039;12853948;12477932;12107413;7656213;15778465;19913121;20628086;19713215;9314836;21525037;21832049;18029348;21906983;16964398;18067320;21988832;23359676 7984 C9J591;H0Y895;Q12774 AACC02000041;ABBA01033541;AC004534;AK090570;AK123596;AK160365;AMYH01018088;BC010046;BC011839;BC014555;BC136661;BF209445;BG831953;BI256663;BX649178;CD674013;CH471146;CR749203;NM_005435;U02082 AAA18010;AAC12958;AAH10046;AAH11839;AAH14555;AAI36662;ABM84438;ABM87484;BAD18708;BAG52188;CAH18061;EAL24413;EAW80095;EAW80096;NP_005426;Q12774 Hs.334;Hs.534621 1686206;1699346;2155322;2217026 ARHGEF5_3900;RH103260;RH80813;TIM1 DKFZp686N1969;GEF5;P60;TIM;TIM1 OTTHUMP00000212568;OTTHUMP00000212569;OTTHUMP00000212570;ephexin-3;guanine nucleotide regulatory protein TIM;oncogene TIM;p60 TIM;rho guanine nucleotide exchange factor 5;transforming immortalized mammary oncogene APPROVED protein-coding ENSG00000050327 13209 02932 600888 REVIEWED 1342507 ARID3C AT rich interactive domain 3C (BRIGHT-like) This gene is a member of the ARID (AT-rich interaction domain) family of proteins. The ARID domain is a helix-turn-helix motif-based DNA-binding domain. ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 34552959 34559515 - 34611455 34618011 - 34621455 34628011 - 6480464 11959810;10838570;21955986 138715 A6NKF2 ABBA01065009;AL450283;AMYH01019338;CH471071;NM_001017363 A6NKF2;AAI48444;EAW58438;NP_001017363 Hs.534549 ARID domain-containing protein 3C;AT-rich interactive domain-containing protein 3C;OTTHUMP00000211880;at rich interactive domain 3c (bright- like) APPROVED protein-coding ENSG00000205143 21209 18550 REVIEWED 1321437 ARID1A AT rich interactive domain 1A (SWI-like) This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p35.3 26895109 26981188 + 27022522 27108601 + 1580863;6480464 22274316;22484628;15640446;10757798;12200431;15170388;9584200;11078522;18029348;19486893;17492758;17255939;17081983;16710414;16230384;15382044;14722072;14702039;12672490;12665591;12477932;11988099;11780067;11734557;11318604;11159203;11073988;9630625;9434167;8895581;8804307;8125298;11784859;11018012;9845365;19505873;21145461;21889920;22193641;20826764;16940996;20086098;20942669;14559996;16055720;16287714;18003620;18086889;18809673;19454010;19609353;19650111;14729568;17878164;20460684;21412130;23667531;17363140;20400511;11726552;22915242;22009941;21900401;22037554;22910690;22939958;22990118;20360068;22157930;22318606;22586326;20305087;21139048;21532573;21890473;23232571;19322201;22101352;21892209;22301703;23349767;23097632;22939629;23030592;22653341;20599239;23202128;22808142;22976498 8289 E9PQW6;H0Y488;H0YCU6;H0YEW5;Q96SM7;Q9BY33 AB001895;AB024075;AB210022;ABBA01034925;AF217506;AF219114;AF231056;AF265208;AF268913;AF521670;AK027442;AK027467;AK027655;AK074940;AK223275;AK308363;AL034380;AL512408;AMYH01000406;AMYH01000407;AMYH01000408;BC112895;CH471059;NG_029965;NM_006015;NM_139135 AAF67617;AAF75765;AAG17549;AAG33967;AAI12896;AAK54505;AAN03446;BAA23269;BAA83073;BAB55114;BAB55132;BAB55270;BAC11306;BAD96995;BAE06104;EAX07793;EAX07794;EAX07795;EAX07796;EAX07797;NP_006006;NP_624361;O14497 Hs.468972 1733078;1853307;1855057;2158238;2175441;2189439;2190943 D1S1417;D1S2243;HSC27A052;MARC_11851-11852:1029349291:1;MARC_6181-6182:992006984:1;SHGC-74444;SHGC-74487 B120;BAF250;BAF250a;BM029;C1orf4;ELD;MRD14;OSA1;P270;SMARCF1;hELD;hOSA1 ARID domain-containing protein 1A;AT-rich interactive domain-containing protein 1A;BRG1-associated factor 250;BRG1-associated factor 250a;OSA1 nuclear protein;OTTHUMP00000004117;OTTHUMP00000004118;OTTHUMP00000004119;SWI-like protein;SWI/SNF complex protein p270;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1;SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1;brain protein 120;chromatin remodeling factor p250;hELD;hOSA1;osa homolog 1 APPROVED protein-coding ENSG00000117713 11110 04319 603024;614607 REVIEWED 6481048 ARID4B-IT1 ARID4B intronic transcript 1 (non-protein coding) 100874336 AL133418 miscrna 41407 736143 ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7 Rho GTPases play a fundamental role in numerous cellular processes triggered by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. This protein can induce membrane ruffling. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 13 13 q34 110565783 110756079 + 111767624 111958081 + 1580863;6480464 10428811;10330411;9726964;9659915;9207241;8889548;8590280;8076819;16356860;12473661;16169070;14505571;16407834;18029348;19303398;18684957;18445079;18385518;18325335;18160719;17562871;17219408;17081983;16983070;16492808;16344560;16329988;15864311;15761153;15649357;15491607;15489334;15324660;15212761;15144186;14702039;14559906;14557270;12935897;12888526;12888525;12626503;12499396;12477932;12226077;12006652;11864573;11157752;10896954;21926430;11756498;12376548;12787561;15182672;15975580;16101281;16374509;16628223;19041750;19118189;19414484;19448619;19923322;20080968;20936779;20395446;21102462;21423176;21048939;22945935;23175185;16228008;12938929;21139048;21906983;21963094;17652093;22588125;15306850;22505724 8874 B1ALK7;B1ANY6;B7Z6D9;B7Z6G2;C9JAD7;C9JDI6;E7ENL8;E7EU80;E7EUY6;E9PDQ5;Q8N3M1 AA457036;AB075521;AB177848;AB177849;ABBA01026985;ABBA01026986;ABBA01026987;ABBA01026988;ABBA01026989;AJ844629;AJ844630;AJ844631;AJ844632;AJ844633;AK055476;AK093326;AK095058;AK295472;AK300157;AK300272;AK308897;AL139086;AL353704;AL390754;AL834228;AMYH01005381;BC033905;BC050521;BC060776;BM677392;BX648314;CF121796;CF144155;CH471085;D17055;D63476;DA216264;DB104833;DB180957;NM_001113511;NM_001113512;NM_001113513;NM_003899;NM_145735 AAH33905;AAH50521;AAH60776;ACE86956;ACE87647;ACE87830;ACT64348;BAA09763;BAD66826;BAD66827;BAE45764;BAH12080;BAH13225;BAH13248;CAD38906;CAH59748;CAH59949;EAX09142;EAX09143;EAX09144;EAX09145;EAX09146;EAX09147;EAX09148;EAX09149;NP_001106983;NP_001106984;NP_001106985;NP_003890;NP_663788;Q14155 Hs.508738 1685836;1711322;1718347;1737433;1852792;1856245;2106435;2161958;2173057;5020948;5022200 ARHGEF7_3917;D13S1000;D13S1183;G35510;L18426;RH122945;RH25365;RH66156;SGC33424;SHGC-30205;SHGC-84915 BETA-PIX;COOL-1;COOL1;DKFZp686C12170;DKFZp761K1021;KIAA0142;KIAA0412;Nbla10314;P50;P50BP;P85;P85COOL1;P85SPR;PAK3;PIXB OTTHUMP00000018715;OTTHUMP00000018717;OTTHUMP00000018718;OTTHUMP00000178803;OTTHUMP00000215110;OTTHUMP00000215156;OTTHUMP00000215158;SH3 domain-containing proline-rich protein;guanine nucleotide exchange factor 7;rho guanine nucleotide exchange factor 7 APPROVED protein-coding ENSG00000102606 15607 05688 605477 REVIEWED 1316702 ARID1B AT rich interactive domain 1B (SWI1-like) This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2012] 6 6 q25.1 157140778 157572094 + 157099064 157531913 + 1302474;6480464 14633620 15231748;22405089;15170388;12200431;11734557;17255939;16952470;21145461;14982958;14702039;14574404;12672490;12665591;12477932;11988099;11078522;10574462;10078207;9804814;8896557;8889548;20602751;19336002;20978832;18029348;19176441;20379614;16230384;20086098;21294900;21448237;17000644;22939629;23202128;21118156;16751102;20360068;20305087;22158540;22426309;21139048;21890473;23000965;23419831;21801163;23660946;23275444 57492 G3XAA0;H0Y2R3;H0Y3S9;H0Y7H8;Q8NFD5 AB033061;ABBA01025550;ABBA01025551;ABBA01025552;ABBA01025553;ABBA01025554;ABBA01025555;ABBA01025556;ABBA01025557;AF253515;AF259792;AF468300;AF521671;AJ001216;AK000921;AK025945;AK074180;AK302356;AL049820;AL136091;AL162578;AL355297;AL591545;AMYH01016772;AMYH01016773;BC009543;BU733862;CB240584;CH471051;NG_032093;NM_017519;NM_020732;Y08266 AAG36928;AAL76077;AAN03447;AAN70985;BAA86549;BAA91426;BAB85006;BAG63682;CAA69592;EAW47678;EAW47679;EAW47680;EAW47681;EAW47682;EAW47683;EAW47684;EAW47685;NP_059989;NP_065783;Q8NFD5 Hs.291587;Hs.744461 1660313;1664702;1668650;1675301;1715025;1715129;1719177;1735600;1769301;1774066;1775780;1848004;1853110;1855242;2107853;2116724;2123645;2128012;2141557;2145868;2176795;2177019;2180639;2186379;5093336;5123356 A009L35;ARID1B_8076;D6S1163E;D6S1878;G32659;G34995;RH119516;RH120849;RH123307;RH16172;RH46034;RH46651;RH46824;RH46858;RH63714;RH68694;RH68798;RH68946;SGC34328;SGC36816;SGC36953;SHGC-30226;SHGC-35096;STS-D20286;STS-T31821;WI-16864 6A3-5;BAF250b;BRIGHT;DAN15;ELD/OSA1;KIAA1235;MRD12;OSA2;RP11-419L10.1;p250R ARID domain-containing protein 1B;AT-rich interactive domain-containing protein 1B;BRG1-associated factor 250b;BRG1-binding protein ELD/OSA1;ELD (eyelid)/OSA protein;OTTHUMP00000017476;OTTHUMP00000017479;OTTHUMP00000223605 APPROVED protein-coding ENSG00000049618 18040 10660 614556;614562 REVIEWED 1313245 ARID3A AT rich interactive domain 3A (BRIGHT-like) This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008] 19 19 p13.3 877037 923816 + 926037 972816 + 1580863;6480464 12477932;12193717;22302879;18029348;19214191;18583319;17386101;17081983;16738337;15203319;15057824;15017387;12692263;12136662;11812999;10838570;9780002;9722953;20455271;20680960;20379614;20548946;21248039;22469780;22010578;21832049;22990118;19471022;21693764;22172947;19322201 1820 K7EJ04;Q99856 ABBA01002609;ABBA01002610;ABBA01002611;ABBA01002612;ABBA01002613;ABBA01002614;AC005379;AC005391;AF039844;AF039850;AMYH01009214;AMYH01009215;AY152547;AY845638;BC007077;BC033163;BC060828;CH471139;NM_005224;U88047 AAC28499;AAC28918;AAC32888;AAC69994;AAH33163;AAH60828;AAN74028;AAW30734;ABZ92420;EAW69580;NP_005215;Q99856 Hs.501296 1791119 REU1926 BRIGHT;DRIL1;DRIL3;E2FBP1 ARID domain-containing 3A;ARID domain-containing protein 3A;AT rich interactive domain 3A (BRIGHT- like) protein;AT-rich interactive domain-containing protein 3A;B-cell regulator of IgH transcription;E2F-binding protein 1;at rich interactive domain 3a (bright- like);dead ringer-like 1;dead ringer-like protein 1 APPROVED protein-coding 3031 10343 603265 REVIEWED 1314897 ARID3B AT rich interactive domain 3B (BRIGHT-like) This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008] 15 15 15 q24 51781307 51840407 + 72620601 72677525 + 74833548 74890472 + 6480464 10446990;12477932;10838570;17643375;19430483;19881956;20379614;20211142;21832049;22860069;22751132;23667531;22307404;21044950;21139048 10620 H3BQ92;Q8IVW6 AB208830;ABBA01060495;ABBA01060496;AC100835;AF116846;AK298716;AK302034;AL137417;AMYH01006794;BC041792;BC045545;CH471136;DB455943;NM_006465 AAD09133;AAH41792;BAD92067;BAG60872;BAG63430;EAW99327;EAW99328;NP_006456;Q8IVW6 Hs.655532 1648294;1753989;1848891;2107855;2152584;7185146 ARID3B_7977;D15S1320;L17911;RH44782;SHGC-132023 BDP;DRIL2 ARID domain-containing protein 3B;AT rich interactive domain 3B (BRIGHT- like);AT-rich interactive domain-containing protein 3B;OTTHUMP00000180679;bright and dead ringer protein;bright-like protein APPROVED protein-coding ENSG00000179361 14350 09806 612457 REVIEWED 1316636 ARID4A AT rich interactive domain 4A (RBP1-like) The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008] 14 14 q23.1 57834975 57910204 + 58765222 58840451 + 1580863;6480464 16919237;12724404;1857421;8414517;11283269;18211900;16873370;16344560;15302935;14581478;12477932;10490602;10369074;10321733;9660940;8455946;15640446;16387653;19471022;17043311;22732186;21148318;22318606;21693764;22118674;22247551;23752268 5926 C9J1W3;C9JIF4;F8WAR5;H7C485;P29374;Q05CG0 ABBA01018256;ABBA01018257;AF086075;AK307520;AK307972;AL132989;AL139021;AMYH01005758;AMYH01005759;AMYH01005760;BC026230;BX279740;CH471061;DB218466;NM_002892;NM_023000;NM_023001;S57153;S57160;S57162;S66427 AAB25833;AAB25834;AAB25835;AAB28543;AAH26230;AAI72363;EAW80727;EAW80728;EAW80729;EAW80730;EAW80731;EAW80732;NP_002883;NP_075376;NP_075377;P29374 Hs.161000 1754449;1854745;2127283;2130027;2167839;2177449;2217030;5094000;5117014;5120121 A010A22;ARID4A_3852;AW466107;D14S1330;G33047;G35710;GDB:196872;SHGC-132583;SHGC-36294;SHGC-36874 RBBP-1;RBBP1;RBP-1;RBP1 ARID domain-containing protein 4A;AT-rich interactive domain-containing protein 4A;OTTHUMP00000179023;OTTHUMP00000179024;OTTHUMP00000197517;retinoblastoma binding protein 1;retinoblastoma-binding protein 1 APPROVED protein-coding ENSG00000032219 9885 01575 180201 REVIEWED 1322383 ARID2 AT rich interactive domain 2 (ARID, RFX-like) ARID2 is a subunit of the PBAF chromatin-remodeling complex (see BAF180; MIM 606083), which facilitates ligand-dependent transcriptional activation by nuclear receptors (Yan et al., 2005 [PubMed 15985610]).[supplied by OMIM, Mar 2008] 12 12 12 q12 44920557 45099159 + 44409887 44588086 + 46123620 46301819 + 6480464 15985610;16782067;16303743;15922553;15640446;15489334;15159402;15146197;15060132;14702039;12672490;12477932;10997877;19505873;20936779;17643375;19668339;18809673;21822264;8895581;19596686;20130577;20360068;20305087;21139048;21549307;22095441;21890473;23047306;20599239;22140357;22505724 196528 F8VWP4;F8W108;F8WCU9;Q9HCL5 AB046777;ABBA01031447;ABBA01031448;ABBA01031449;ABBA01031450;ABBA01031451;ABBA01031452;AC008124;AC009464;AC009777;AK027617;AK027718;AK055181;AK075385;AK127872;AL832200;AMYH01004426;AY727870;BC018661;BC038726;BC064625;BC090062;BX537879;BX648152;BX649133;CH471111;CN419675;CR749833;DQ096628;NM_152641 AAH18661;AAH38726;AAH90062;AAI56212;AAI72461;AAU20329;AAZ74794;BAB13383;BAB55236;BAB55320;BAC11585;BAC87171;CAD91164;CAD97878;CAH18689;EAW57888;EAW57889;EAW57890;EAW57891;NP_689854;Q68CP9 Hs.317304 1661696;1663646;1675171;1705768;1712420;1712422;1712426;1712458;1769663;2174785;2191427;2217028;5094016 A010A40;ARID2_3730;G33057;G54245;G54246;G54248;G54266;MARC_21821-21822:1025098890:1;RH69395;SHGC-78670;WI-13379;WI-14321;WI-16568 BAF200;DKFZp686G052;DKFZp779P0222;FLJ30619;KIAA1557;p200 ARID domain-containing protein 2;AT-rich interactive domain-containing protein 2;BRG1-associated factor 200;OTTHUMP00000197509;OTTHUMP00000197510;zinc finger protein with activation potential;zipzap;zipzap/p200 APPROVED protein-coding ENSG00000189079 18037 16505 609539 VALIDATED 2289744 ARIH2P1 ariadne homolog 2 pseudogene 1 18 18 18 q12.1 23042743 23044624 + 24485693 24487175 + 26231494 26233375 + 390844 ABBA01022547;AC027141;AMYH01008910;NG_009482 1652468;2164136;5019649 A006E46;G32336;SGC35142 ARIH2P APPROVED pseudo 31732 INFERRED 2298738 ARIH2OS ariadne homolog 2 opposite strand 3 3 3 p21.31 48910982 48912579 - 48930225 48931822 - 48955221 48956818 - 6480464 16344560;14702039 646450 Q8N7S6 ABBA01024624;AC134028;AK097724;AMYH01013154;DA461567;NM_001123040 BAC05151;NP_001116512;Q8N7S6 Hs.720727 5014051;5021872;5022651 D11S2921;D8S2278;sY3084 C3orf71 OTTHUMP00000210387;ariadne-2 homolog opposite strand protein;hypothetical protein LOC646450;uncharacterized protein ARIH2OS;uncharacterized protein C3orf71 APPROVED protein-coding ENSG00000221883 34425 PROVISIONAL 1322287 ARID5A AT rich interactive domain 5A (MRF1-like) Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM, Mar 2008] 2 2 2 q11.2 91643676 91659583 + 96566191 96582098 + 97202464 97218371 + 6480464 15640446;18029348;16713569;12477932;8889548;8649988;12975309;21890473;21184583;15941852;22797925 10865 C9J1Q0;F6Q9D3;Q03989 ABBA01036588;ABBA01036589;AC013270;AK300173;AK304566;AK307768;AMYH01010726;AY358167;BC032488;BC047390;BC067301;BQ073595;BU734273;BX648918;CH471207;M62324;NM_212481 AAA36325;AAI67773;AAQ88534;BAG61953;BAH14217;EAW71359;EAW71360;EAW71361;EAW71362;EAW71363;EAW71364;EAW71365;EAW71366;NP_997646;Q03989 Hs.920 1773888;2135741 D2S2868;G09483 MRF-1;MRF1;RP11-363D14 ARID domain-containing protein 5A;AT-rich interactive domain-containing protein 5A;OTTHUMP00000207481;OTTHUMP00000207483;RFVG5814;modulator recognition factor 1;modulator recognition factor I APPROVED protein-coding ENSG00000196843 17361 12481 611583 VALIDATED 1604359 ARID4B AT rich interactive domain 4B (RBP1-like) This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 q42.1-q43 208572869 208734285 - 233396833 233558155 - 235330210 235491532 - 6480464 17081983;16710414;15489334;15302935;15247124;14702039;12724404;12477932;12446740;11790298;11481388;10737800;22693453;16387653;20347265;20379614;20936779;17043311;18193082;19471022;21139048;21693764 51742 H0Y7Y8;H7C5R6;Q9P2W4 AB210032;ABBA01033120;ABBA01033121;ABBA01033122;ABBA01033123;ABBA01033124;ABBA01033125;ABBA01033126;AF083249;AF208045;AF214114;AF227899;AI356277;AI431949;AK023144;AK057552;AL133418;AL133594;AL356781;AL391994;AMYH01001842;AMYH01001843;AMYH01001844;AY220790;BC017800;BC048959;BC062536;BC104632;BC130418;BC143719;BF899710;BX648820;CH471098;NG_029484;NM_001206794;NM_016374;NM_031371 AAD41239;AAF23433;AAF28341;AAF36964;AAH17800;AAH48959;AAH62536;AAI04633;AAI30419;AAO63590;BAB14428;BAE06114;CAB63731;CAI46047;EAW70008;EAW70009;EAW70010;EAW70011;EAW70012;EAW70013;EAW70014;EAW70015;NP_001193723;NP_057458;NP_112739;Q4LE39 Hs.575782 1339695;1779099;1848810;2176053;5021872;5022200;5022651;5037552 D11S2921;D1S2649;D1S3341;D8S2279;HSC1CA092;L18426;SHGC-76545;sY3084 BCAA;BRCAA1;DKFZp313M2420;MGC163290;RBBP1L1;RBP1L1;SAP180 180 kDa Sin3-associated polypeptide;ARID domain-containing protein 4B;AT-rich interactive domain-containing protein 4B;OTTHUMP00000037596;OTTHUMP00000037599;OTTHUMP00000037601;OTTHUMP00000197527;RBP1-like protein;Rb-binding protein homolog;SIN3A-associated protein 180;breast cancer-associated antigen 1;breast cancer-associated antigen BRCAA1;breast carcinoma-associated antigen;histone deacetylase complex subunit SAP180;retinoblastoma binding protein 1-like 1;retinoblastoma-binding protein 1-like 1;sin3-associated polypeptide p180 APPROVED protein-coding ENSG00000054267 15550 10661 609696 REVIEWED 1317649 ARL11 ADP-ribosylation factor-like 11 This gene encodes a tumor suppressor related to the ADP-ribosylation factor (ARF) family of proteins. The encoded protein may play a role in apoptosis in a caspase-dependent manner. Polymorphisms in this gene have been associated with some familial cancers. [provided by RefSeq, May 2010] 13 13 q14.2 49100625 49105732 + 50202435 50208008 + 737633;1580863;6480464 12477932 18337727;17699778;17449901;17391501;16646072;16581122;16570116;16488076;16353159;16189514;15843669;15489334;15057823;14702039;18375053;19060904;19509554;20067102;20358297;22028916;21890473;23000965;23412934 115761 Q969Q4 ABBA01051020;AF441378;AK091249;AL135901;AMYH01005109;BC013150;CH471075;NG_021342;NM_138450 AAH13150;AAP19650;BAC03621;EAX08831;NP_612459;Q969Q4 Hs.558599 5022200;5022578 D1S1423;L18426 ARLTS1;FLJ33930;MGC17429 ADP-ribosylation factor-like protein 11;ADP-ribosylation factor-like tumor suppressor protein 1;OTTHUMP00000018420 APPROVED protein-coding ENSG00000152213 24046 12484 609351 REVIEWED 1317726 ARIH1 ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) 15 15 15 q24 49652768 49763614 + 70553721 70662877 + 72766667 72878896 + 1580863;6480464 21145461;10521492;15489334;15236971;14623119;12477932;11278816;11124703;11124525;10926929;10880484;12234920;19615732;21532592;15963499;23383273;22863883;23022380;18781797;21987572;21139048;21890473;21906983;21963094;21590270;22037423;18654987;22505724;23059369 25820 H3BNB9;H3BSK4;H3BUS0;Q9Y4X5 AB014774;AB209432;ABBA01038725;ABBA01038726;ABBA01038727;AC079322;AC100827;AF072832;AJ009771;AJ130976;AJ243190;AK000336;AK312715;AL117650;AMYH01006762;BC051877;BX641117;CH471082;CQ834334;NM_005744 AAD28088;AAH51877;BAB19786;BAD92669;BAG35590;CAA08817;CAA10274;CAB45870;CAH05382;EAW77907;EAW77908;NP_005735;Q9Y4X5 Hs.268787 1646083;1677864;1739275;1795398;1850906;1856906;2138783;2148216 A004P07;ARIH1_702;D2S1933E;RH47216;RH77925;RH93460;SHGC-34211;SHGC-36787 ARI;DKFZp686O13120;FLJ20329;FLJ93118;HARI;HHARI;UBCH7BP ARI-1;E3 ubiquitin-protein ligase ARIH1;H7-AP2;MOP-6;OTTHUMP00000164679;ariadne, Drosophila, homolog of;monocyte protein 6;protein ariadne-1 homolog;ubcH7-binding protein;ubcM4-interacting protein;ubiquitin-conjugating enzyme E2-binding protein 1 protein-coding ENSG00000166233 689 05730 605624 VALIDATED 1323345 ARID5B AT rich interactive domain 5B (MRF1-like) This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 10 10 q21.2 63331449 63526709 + 63661013 63856707 + 6480464 21145461;18612189;17081983;15640446;15489334;15164054;14702039;12477932;11483573;11478881;10329386;9808040;16344560;19430483;19684603;19684604;20042726;20054350;20460642;22660188;17000644;23608171;11959810;17407261;21532585;21889209;21890642;23118423;21693764;21906983;22446963;16009940;19322201;22291082;21963094;23016962;22922568;23022100;23273568;23291589;23382691;23512250;23667531;23752268 84159 Q9H786 ABBA01019481;ABBA01019482;ABBA01019483;AC067742;AI149153;AK024803;AK123882;AK296921;AL049471;AL671972;AL731669;AMYH01002771;AMYH01002772;BC015120;BC017404;BC036831;BC056680;BC066345;BC107800;BG615173;BX352258;BX472565;BX537690;BX641020;BX648835;CH471083;DB014195;M73837;NG_030027;NM_001244638;NM_032199 AAA59870;AAH15120;AAH36831;AAH66345;AAI07801;AAI52737;AAI56571;BAB15012;BAG59475;CAD97814;CAE46013;EAW54226;EAW54227;EAW54228;NP_001231567;NP_115575;Q14865 Hs.535297 1338119;1656811;1668246;1695524;1726899;1752653;1771234;1771831;1853168;2109059;2117448;2133017 A003N19;AFM234WC5;ARID5B_3079;B353XB9;D10S609;G62692;RH47625;RH48313;SHGC-106526;SHGC-16154;SHGC-68542;STS-AA009652 DESRT;FLJ21150;FLJ41888;MRF-2;MRF2;RP11-341A19.1 ARID domain-containing protein 5B;AT-rich interactive domain-containing protein 5B;MRF-2;MRF1-like protein;OTTHUMP00000019668;modulator recognition factor 2 (MRF2) APPROVED protein-coding ENSG00000150347 17362 608538 REVIEWED 1344087 ARL10 ADP-ribosylation factor-like 10 5 5 5 q35.2 172701905 172709953 - 175725108 175733109 + 175792502 175800503 + 1580863;6480464 15033445;14702039;12477932;21890473 285598 H0Y8L6;H0Y9R6;Q6PCE2;Q8N8L6 ABBA01033501;AC138956;AMYH01015859;BC059361;CH471195;DR001833;NM_173664 AAH59361;EAW85086;NP_775935;Q8N8L6 Hs.424552 1688424 RH92676 ARL10A;FLJ39249 ADP-ribosylation factor-like membrane-associated protein;ADP-ribosylation factor-like protein 10;OTTHUMP00000161237 protein-coding 22042 12482 VALIDATED 6771193 ARL14EPL ADP-ribosylation factor-like 14 effector protein-like 5 q23.1 115387163 115394827 + 10737800 644100 P0DKL9 ABBA01069028;AC034236;AMYH01015563;BF993117;DN930361;DN930362;DT932734;NM_001195581 NP_001182510;P0DKL9 Hs.730043;Hs.98288 1780908 bac53227S ARL14 effector protein-like;uncharacterized protein LOC644100 protein-coding 44201 VALIDATED 1343034 ARL13A ADP-ribosylation factor-like 13A X X X q22.1 100743491 100764612 + 100111356 100132476 + 100224697 100245820 + 6480464 12477932;23128241 392509 H0YH34;J3KPB3;Q5H913 ABBA01044923;ABBA01064108;ABBA01064109;ABBA01064110;AK301813;AMYH01022723;AMYH01022724;AMYH01022725;AW118931;BC140808;BC144603;CD300373;CH471115;DB727708;DC426731;DY655154;NM_001012990;NM_001162490;NM_001162491;NR_103708;NR_103709;Z97985 AAI40809;AAI44604;BAG63262;EAX02829;NP_001013008;NP_001155962;NP_001155963;Q5H913 Hs.147237 2125106 DXS7529 ARL13;dJ341D10.2 ADP-ribosylation factor-like 13;ADP-ribosylation factor-like protein 13A;OTTHUMP00000023662;OTTHUMP00000226635 protein-coding ENSG00000174225 31709 18526 VALIDATED 1314113 ARIH2 ariadne homolog 2 (Drosophila) 3 3 3 p21 48912042 48977617 + 48931285 48997978 + 48956281 49022974 + 1580863;6480464 22037423;22819825;19340006;10422847;17646546;16189514;16169070;16118314;15489334;15146197;14702039;12477932;10931946;10880484;8125298;12234920;21454682;19549727;22863883;23022380;17043677;15545318;20639865;21139048;21890473;21906983;22940738;23383273;22493164;22053931 10425 C9JAU2;C9JBC5;C9JCL4;C9JZ71;F8WCS4;O95376;Q6IBL8 AB208857;ABBA01024621;ABBA01024622;ABBA01024623;ABBA01024624;AC134028;AC137630;AF099149;AF099150;AF099151;AF099152;AF099153;AF113677;AF183427;AJ130978;AK001800;AK091240;AK223550;AK307694;AK313434;AL110187;AL162034;AMYH01013154;BC000422;CH471055;CN399800;CR456785;NM_006321 AAC82469;AAG09696;AAH00422;ABM85944;BAD92094;BAD97270;BAG36225;BAG50977;CAA10276;CAG33066;EAW64930;EAW64931;EAW64932;EAW64933;NP_006312;O95376 Hs.633601 1646592;1646594;1650578;1652468;1676454;1687189;1697632;1740139;1855306;2149781;2164136;2186232;5019649 A006E46;A006J35;D3S3505;D3S3893;G20880;G32336;RH102329;RH16356;RH80209;RH80613;SGC35142;SHGC-76940;WI-11545 ARI2;FLJ10938;FLJ33921;TRIAD1 ARI-2;E3 ubiquitin-protein ligase ARIH2;OTTHUMP00000164828;OTTHUMP00000210388;all-trans retinoic acid inducible RING finger;protein ariadne-2 homolog protein-coding ENSG00000177479 690 09286 605615 PROVISIONAL 732961 ARL1 ADP-ribosylation factor-like 1 The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. [provided by RefSeq, Jul 2008] 12 12 q23.2 100311045 100325703 - 101786903 101801572 - 1580863;6480464 9624189;17353931;17127620;16381901;15489336;15489334;11230166;11076863;10318838;7814376;15269279;14702039;12972563;12477932;11303027;11256614;19224922;19703403;21239483;17314511;17342744;14580338;8798635;21139048;21890473;21906983;11792819;21145461;22679020;23345439 400 B4DWW1;B4DZG7;F8VP63;F8VP99;F8VYN9;F8W1Z8;P40616 ABBA01053244;AC063948;AF493887;AK001489;AK299062;AK301701;AK302911;AK311793;AL701988;AMYH01004702;BC007000;BT007260;BX537387;CD686919;CH471054;CK822904;L28997;NM_001177 AAC37567;AAH07000;AAM12601;AAP35924;ABM83974;ABM87294;BAG34736;BAG61128;BAG63173;BAG64079;CAD97629;CAL38716;EAW97657;EAW97658;EAW97659;EAW97660;NP_001168;P40616 Hs.372616;Hs.732900 1680984;1683811;2119862;2176880 D12S1419;RH93493;RH98475;STS-N98729 ARFL1 ADP-ribosylation factor-like protein 1;OTTHUMP00000243366;OTTHUMP00000243367;OTTHUMP00000243368;OTTHUMP00000243370;OTTHUMP00000243371 APPROVED protein-coding ENSG00000120805 692 04574 603425 REVIEWED 1349356 ARL13B ADP-ribosylation factor-like 13B This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 3 3 3 q11.1 92082477 92158408 + 95181672 95256813 + 93698983 93774522 + 6480464;7240710 18674751;18554500;15489334;15314642;12477932;20231383;21068128;23153492;21139048;21906983;20301500;23000965;23128241;23150559;23223633 200894 B4DRI8;C9J887;F8W837;F8WAY0;F8WBR2;Q3SXY8 AA775026;ABBA01026969;ABBA01026970;ABBA01026971;AC117474;AC130896;AK296994;AK299284;AL713789;AMYH01013339;BC015439;BC031093;BC062993;BC073842;BC094725;BC104033;BC104034;BC104035;BC104036;BI821381;CH471052;CR936753;CR936756;CR936763;NG_017076;NM_001174150;NM_001174151;NM_144996;NM_182896;NR_033427 AAH94725;AAI04036;AAI04037;ACE86811;ACE87498;ACE87851;ACT64375;BAG59533;BAG61300;CAD28544;EAW79897;EAW79898;EAW79899;EAW79900;EAW79901;NP_001167621;NP_001167622;NP_659433;NP_878899;Q3SXY8 Hs.533086 1682888 RH48040 ARL2L1;DKFZp686E2075;DKFZp686L2472;DKFZp686M2074;DKFZp761H079;JBTS8;MGC120611;MGC120612 ADP-ribosylation factor-like protein 13B;ARL2-like protein 1;OTTHUMP00000213855;OTTHUMP00000213858;OTTHUMP00000213859 APPROVED protein-coding ENSG00000169379 25419 12334 608922;612291 REVIEWED 1349632 ARL14 ADP-ribosylation factor-like 14 3 3 3 q25.33 158816951 158818239 + 161877641 161878930 + 160394948 160396236 + 6480464 16341674;15761153;15489334;15367757;14702039;12477932;19458352 80117 Q8N4G2 ABBA01058793;AC069224;AK026248;AMYH01013616;BC034354;BM760777;CH471052;NM_025047 AAH34354;ADZ16082;BAB15411;EAW78629;NP_079323;Q8N4G2 Hs.287702 ARF7;FLJ22595 ADP-ribosylation factor-like protein 14;OTTHUMP00000213879 protein-coding ENSG00000179674 22974 07998 614439 VALIDATED 1602487 ARL17A ADP-ribosylation factor-like 17A 17 17 17 q21.31 57320187 57332531 + 41949384 42012352 - 44594068 44657088 - 6480464 15489334;12477932;22505724 51326 I3L1V5;I3L2E4;Q8IVW1 AB209344;ABBA01000577;ABBA01003835;ABBA01041111;AC138645;AC139677;AF208864;AF493886;AK289590;AK315857;AMYH01008444;BC000924;BC020869;BC030570;BC041803;BC071681;BX537922;BX647266;NM_001113738;NM_016632 AAF64278;AAH00924;AAH30570;AAH41803;AAM12600;BAD92581;BAF82279;BAF98748;NP_001107210;NP_057716 Hs.559259;Hs.720602;Hs.733127 1743291;1774779;1851494;2151297;5127432 D17S1689;GDB:314381;SHGC-57505;SHGC-58364;STS-AA029927 ARF1P2;ARL17P1 ADP-ribosylation factor 1 pseudogene 2;ADP-ribosylation factor 7;ADP-ribosylation factor-like 17 pseudogene 1;ADP-ribosylation factor-like 17-like;OTTHUMP00000163711 APPROVED protein-coding ENSG00000185829 24096 17424 VALIDATED 1323226 ARL15 ADP-ribosylation factor-like 15 5 5 5 p15.2 50134233 50560002 - 53216371 53642160 - 53180614 53606403 - 737633;6480464 12477932 16169070;15489334;14702039;20011104;20379614;17207965;20950786;21139048;21890473;21906983;20686565;22479202 54622 Q9NXU5;R4GN67 ABBA01015723;ABBA01015724;ABBA01015725;ABBA01015726;AC008873;AC008935;AC016601;AC024571;AC025175;AC034246;AK000058;AK290886;AK311482;AMYH01015086;BC026093;CH471123;CR457225;NM_019087 AAH26093;ADQ32165;BAA90915;BAF83575;CAG33506;EAW54889;EAW54890;EAW54891;NP_061960;Q9NXU5 Hs.659125 1336180;1337541;1341059;1650750;1650800;1655640;1660507;1663491;1670393;1677346;1686324;1691032;1706176;1719451;1721137;1726861;1729579;1752441;2109055;2113784;2122585;2123881;2163144;7186735;7187457 A101YE9;AB055363;AFM254wf1;ARFRP2_9807;D5S1508;D5S1968;D5S1969;D5S2423;D5S260;D5S453E;D5S628;G59403;G62673;L28283;L28354;RH123444;RH46502;RH75399;SGC31091;SHGC-106389;SHGC-34222;SHGC-80614;STS-N22913 ARFRP2;FLJ20051 ADP-ribosylation factor related protein 2;ADP-ribosylation factor-like protein 15;ADP-ribosylation factor-related protein 2;ARF-related protein 2;OTTHUMP00000230684;OTTHUMP00000230685 protein-coding ENSG00000185305 25945 12471 VALIDATED 1602076 ARL14EP ADP-ribosylation factor-like 14 effector protein 11 11 11 p14.1 30491042 30505559 + 30301225 30315741 + 30344649 30359165 + 6480464 15489334;14702039;12477932;17207965;21987572;21139048;21890473;21906983;21458045 120534 E9PRK7;Q8N8R7 ABBA01060937;AK096287;AL356440;AMYH01003469;BC047775;BX647617;CH471064;CS300570;NM_152316 AAH47775;ADQ33112;BAC04747;CAI46092;CAK32234;EAW68259;NP_689529;Q8N8R7 Hs.502208 1669315;1685664;1713381;2143511;5020092 RH119546;RH40032;SHGC-132872;SHGC-53867;WI-17439 ARF7EP;C11orf46;FLJ38968;dJ299F11.1 ARF7 effector protein;ARL14 effector protein;OTTHUMP00000232037;hypothetical protein LOC120534;uncharacterized protein C11orf46 APPROVED protein-coding 26798 08796 612295 PROVISIONAL 1349460 ARL2BPP1 ADP-ribosylation factor-like 2 binding protein pseudogene 1 18 q23 74415819 74416210 - 399666 ABBA01015283;AC110743;AMYH01009112;NG_028708 HsT2883 pseudo 17742 INFERRED 1601700 ARL16 ADP-ribosylation factor-like 16 17 17 17 q25.3 76293146 76295876 - 77258629 77261359 - 79648224 79650954 - 6480464 15489334;14702039;12477932;21233210;21906983 339231 I3L196;I3L1P0;I3L4Z1;I3L4Z7;Q0P5N6 ABBA01032159;AC139530;AK095847;AK303526;AK304718;AMYH01008718;BC029633;BC042380;BC063687;BC105076;BC105078;NM_001040025 AAI05077;AAI05079;ADR82863;BAG64554;BAG65482;NP_001035114;Q0P5N6 Hs.658789 5037552 D8S2279 ADP-ribosylation factor-like protein 16 protein-coding ENSG00000214087 27902 VALIDATED 6480914 ARL2BPP10 ADP-ribosylation factor-like 2 binding protein pseudogene 10 22 18585223 18586415 - 100874449 ABBA01001421;AC016027;AMYH01012440;AMYH01012441;NG_032307 pseudo 39454 INFERRED 1346532 ARL2BPP2 ADP-ribosylation factor-like 2 binding protein pseudogene 2 12 12 12 q13.13 52803394 52803905 + 51443433 51443944 + 53157166 53157677 + 399667;643898 ABBA01008295;AC068988;AMYH01004474;NG_030318 ARL2BPL;bcm1040 ADP-ribosylation factor-like 2 binding protein pseudogene 2 APPROVED pseudo 31036 INFERRED 4891571 ARL2BPP3 ADP-ribosylation factor-like 2 binding protein pseudogene 3 13 13 13 q13.3 18435830 18436477 + 36266621 36267187 + 37368621 37369187 + 646879 A8MYR8 ABBA01021354;AL159973;AMYH01005039;CH471075;NG_022943 A8MYR8;EAX08569 1737323;1755361;1778925 D13S927;SHGC-142244;WI-22737 pseudo 39447 INFERRED 4891560 ARL2BPP4 ADP-ribosylation factor-like 2 binding protein pseudogene 4 5 5 5 q23.3 125995443 125995972 + 129892951 129893480 + 129865094 129865786 + 17903298 100130265 ABBA01068841;AC005741;AMYH01015608;NG_028952 pseudo 39448 INFERRED 6481008 ARL2BPP5 ADP-ribosylation factor-like 2 binding protein pseudogene 5 5 162188839 162189319 + 100874420 ABBA01044193;AC010602;AMYH01015767;NG_032305 pseudo 39449 INFERRED 6481011 ARL2BPP6 ADP-ribosylation factor-like 2 binding protein pseudogene 6 5 174717734 174718255 + 100874421 ABBA01043996;AC020903;AMYH01015836;NG_032306 pseudo 39450 INFERRED 4891557 ARL2BPP7 ADP-ribosylation factor-like 2 binding protein pseudogene 7 9 9 9 q31.1 75321286 75322432 - 103857355 103857853 - 104816145 104818108 - 100131629 ABBA01042868;AL596454;AMYH01021580;NG_028958 pseudo 39451 INFERRED 4891556 ARL2BPP8 ADP-ribosylation factor-like 2 binding protein pseudogene 8 17 17 17 q22 49293770 49294257 - 50186522 50187027 - 52830236 52832038 - 100131784 ABBA01041283;AC005951;AMYH01008487;NG_028975 pseudo 39452 INFERRED 4891555 ARL2BPP9 ADP-ribosylation factor-like 2 binding protein pseudogene 9 17 17 77125237 77126015 - 80534490 80535268 - 100421675 ABBA01019689;AC124283;AMYH01008736;NG_026204 pseudo 39453 INFERRED 1605146 ARL17B ADP-ribosylation factor-like 17B 17 17 q21.31 41784502 41794826 - 44376913 44439134 - 6480464 15489334;12477932;11181995;14702039;19608861;22505724 100506084 I3L1A0;I3L1V5;I3L2E4;I3L3L1;Q8IVW1 AB209344;ABBA01003822;AC005829;AC139026;AC217777;AF208864;AF493886;AK289590;AK315857;AMYH01008443;BC000924;BC020869;BC030570;BC041803;BC071681;BX537922;BX647266;CH878255;NM_001039083;NM_001103154 AAF64278;AAH00924;AAH30570;AAH41803;AAM12600;BAD92581;BAF82279;BAF98748;EAW50328;EAW50329;NP_001034172;NP_001096624;Q8IVW1 Hs.559259;Hs.720602;Hs.733127 2151297;5022576;5127432 D1S1361;SHGC-58364;STS-AA029927 ARL17;ARL17A;FLJ76374;FLJ79506;MGC45095 ADP-ribosylation factor 7;ADP-ribosylation factor-like 17;ADP-ribosylation factor-like protein 17 APPROVED protein-coding ENSG00000228696 32387 VALIDATED 1344137 ARL2BP ADP-ribosylation factor-like 2 binding protein ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008] 16 16 16 q13 41778726 41787233 + 55836539 55845046 + 57279038 57287545 + 1580863;6480464 10488091;19368893;18981177;12477932;11809823;11303027;20936779;16525022;18234692;11847227;21665939;21833473;21901094;22532868;21139048;19322201;22745590 23568 H3BM52;H3BU49;Q9Y2Y0 ABBA01025265;ABBA01025266;AC009090;AF126062;AK075050;AK298758;AK311018;AMYH01007697;BC003087;BC094878;BF590083;CH471092;CQ783045;NM_012106 AAD20633;AAH03087;AAH94878;BAG52057;BAG60900;CAF86252;EAW82913;EAW82914;NP_036238;Q9Y2Y0 Hs.632873 1647702;1754769;1767550 G06868;SHGC-33383;STS-W69175 BART;BART1 ADP-ribosylation factor-like protein 2-binding protein;ARF-like 2-binding protein;Arf-like 2 binding protein BART1;OTTHUMP00000164663;binder of ARF2 protein 1;binder of Arl Two;binder of Arl2 APPROVED protein-coding ENSG00000102931 17146 09808 REVIEWED 1605276 ARL4P2 ADP-ribosylation factor-like 4 pseudogene 2 4 4 4 p14 41230854 41232002 + 40482564 40483910 + 40787905 40789053 + 152709 ABBA01014257;AC131953;AMYH01014129;NG_005394 pseudo 32379 INFERRED 1354501 ARL4P ADP-ribosylation factor-like 4 pseudogene 10 10 q21.2 55709627 55710792 + 62443989 62445154 + 387684 ABBA01019464;AC022390;AMYH01002767;NG_011408;NG_029917 2106437 ARL4B__4370 ARL4B pseudo 17741 INFERRED 6769531 ARL5AP1 ADP-ribosylation factor-like 5A pseudogene 1 X q24 118317445 118321005 - 641382 ABBA01036710;AL441887;AMYH01022880;NG_005344 RP11-320L24.1-001 pseudo 43933 INFERRED 6769532 ARL5AP2 ADP-ribosylation factor-like 5A pseudogene 2 10 q24.2 100770912 100773979 - 641380 ABBA01063257;AL590036;AMYH01002987;NG_005342;NG_023416 RP11-379D21.2-001 pseudo 43937 INFERRED 6769533 ARL5AP4 ADP-ribosylation factor-like 5A pseudogene 4 22 q11.2 25081822 25089151 + 641379 ABBA01055149;AMYH01012670;AP000357;AP000358;NG_005341 pseudo 43936 INFERRED 735885 ARL2 ADP-ribosylation factor-like 2 This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008] 11 11 q13 64538162 64546232 + 64781585 64789657 + 1580863;6480464 10831612;18818514;18588884;17704193;17188265;16525022;15489334;12912990;12527357;12477932;12015966;11980706;11809823;9253601;8415637;8125298;16189514;19368893;20740604;18234692;15146197;21199864;22863883;22939629;18781797;20360068;20972266;21139048;21890473;21906983;22002721;19471022;22505724;11847227 402 P36404;Q53YD8 ABBA01024138;AF493888;AI076058;AI631767;AK223502;AK294580;AMYH01003716;AP000436;BC002530;BG706294;BT006674;CH471076;CN338497;L13687;NM_001199745;NM_001667 AAC37606;AAH02530;AAM12602;AAP35320;ACE87082;ACE87762;BAD97222;BAG57771;EAW74332;EAW74333;NP_001186674;NP_001658;P36404 Hs.502836 1338740;1782486;1857755;2157053;5021872;5022651;5037552 D11S2921;D11S4192;D11S4597;D8S2279;G33095;SHGC-172584;sY3084 ARFL2 ADP-ribosylation factor-like protein 2;OTTHUMP00000230835;OTTHUMP00000230836;OTTHUMP00000230838 APPROVED protein-coding ENSG00000213465 693 11869 601175 VALIDATED 7207694 ARL5B-AS1 ARL5B antisense RNA 1 10 18941162 18948214 - 101060107 ABBA01034535;AL512641;AMYH01002156;XR_171056;XR_171841;XR_172423 miscrna 44882 MODEL 1604399 ARL4A ADP-ribosylation factor-like 4A ADP-ribosylation factor-like 4A is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4A is similar to ARL4C and ARL4D and each has a nuclear localization signal and an unusually high guaninine nucleotide exchange rate. ARL4A is located in both the nuclear and extranuclear cell compartments. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 p21.3 12704156 12708234 + 12693006 12697084 + 12726452 12730559 + 6480464 10980193;18240926;17398095;15489334;12690205;12477932;10462049;7829101;10756096;21930703;21906983;22159419 10124 C9J7Q9;P40617 AACC02000009;ABBA01056578;AC011891;AF493890;AK313233;AMYH01017075;AU076407;AW022162;AW079064;BC001111;BC003027;BC039123;BI828864;BM550177;BQ948724;BU786406;CD049640;CH236948;CH471073;DB451189;DB472672;NM_001037164;NM_001195396;NM_005738;NM_212460;U73960 AAB39713;AAH01111;AAH03027;AAM12604;BAG36044;EAL24295;EAW93650;EAW93651;EAW93652;NP_001032241;NP_001182325;NP_005729;NP_997625;P40617 Hs.245540 1645062;5113627 RH48668;RH80713 ARL4 ADP-ribosylation factor-like 4;ADP-ribosylation factor-like protein 4A;OTTHUMP00000155200;OTTHUMP00000155201;OTTHUMP00000201574;OTTHUMP00000201575;OTTHUMP00000201576;OTTHUMP00000201577 APPROVED protein-coding ENSG00000122644 695 11987 604786 REVIEWED 1345856 ARL4C ADP-ribosylation factor-like 4C ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008] 2 2 2 q37.1 229122450 229126462 - 235066424 235070432 - 235401685 235405693 - 1580863;6480464 10462049;17398095;16713569;15489334;15147902;12477932;21187453;18029348;20686608;19409876;21832049;21906983 10123 P56559;Q4A519 AB016811;ABBA01001958;AC097713;AC105145;AF493892;AJ579850;AJ579851;AK314119;AMYH01011583;BC001051;BC089043;BM541491;BM904613;BT019378;BT019379;BU844902;CA413100;CD358707;CH471063;HI179044;NM_005737;Y17804 AAH89043;AAM12606;AAV38185;AAV38186;AAX93114;ACE86833;ACE87519;BAA75473;BAG36810;CAB44355;CAE30322;CAE30323;CBX53831;EAW71073;EAW71074;NP_005728;P56559 Hs.111554;Hs.730678 1739221;2151987;5096620 D2S1923;STS-T91940;WI-15413 ARL7;LAK ADP ribosylation factor-like protein 7;ADP-ribosylation factor-like protein 4C;ADP-ribosylation factor-like protein 7;ADP-ribosylation factor-like protein LAK;OTTHUMP00000164395 APPROVED protein-coding ENSG00000188042 698 11988 604787 REVIEWED 1316723 ARL5C ADP-ribosylation factor-like 5C 17 17 17 q12 33974029 33983324 - 37313147 37322414 - 37313147 37322414 - 6480464 16625196;11181995 390790 A6NH57;K7EM39 ABBA01031883;AC004408;AK310706;AMYH01008374;CH471152;NM_001143968 A6NH57;EAW60555;NP_001137440 Hs.568007 5016478;5017170;5022578 D1S1423;GDB:434012;L29953 ARL12;FLJ17748 ADP-ribosylation factor-like protein 12;putative ADP-ribosylation factor-like protein 5C protein-coding 31111 PROVISIONAL 734227 ARL3 ADP-ribosylation factor-like 3 ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008] 10 10 q23.3 104423478 104464180 - 104433484 104474190 - 68742;1580863;6480464 8034651 18588884;16525022;16472755;16169070;15489334;12477932;12417528;12107411;11980706;11847227;11303027;11188688;10518933;10072593;9110174;8619474;7566098;16385451;20106869;8889548;22960633;18029348;21139048;21890473;21906983;22002721 403 P36405 AA325516;ABBA01063137;ABBA01063138;ABBA01063139;ABBA01063140;ABBA01063141;AF038193;AF493889;AK312525;AL391121;AMYH01003020;AW269939;BC008032;BC009841;BC025759;BE780186;BM661686;BQ638232;CD245572;CH471066;CR407637;NM_004311;U07151 AAA21654;AAH09841;AAM12603;ABM84157;ABM87559;BAG35424;CAG28565;EAW49678;NP_004302;P36405 Hs.182215 1653072;1656117;1765215;1776566;2110995;2111208;2113092;2124887 A002G45;D10S2455;D10S476E;D10S669E;RH11266;RH41912;SHGC-12905;SHGC-148709 ARFL3 ADP-ribosylation factor-like protein 3;ARF-like 3;OTTHUMP00000020373;adp-ribosylation-like 3 APPROVED protein-coding 694 05260 604695 REVIEWED 1315741 ARL4D ADP-ribosylation factor-like 4D ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with Bardet-Biedl syndrome (BBS). [provided by RefSeq, Jul 2008] 17 17 17 q21.31 38186886 38189037 + 38831879 38834030 + 41476353 41478504 + 1580863;6480464 7590735;17398095;15489334;15314642;15258860;12477932;12472661;10508919;10462049;8889548;7581362;7545954;16169070;15761153;21832049;22927989;21890473;21906983 379 P49703 AB060692;ABBA01028417;AC087650;AK314951;AMYH01008406;BC000043;BI547763;BM682844;BU729196;CH471178;L38490;NM_001661 AAA57126;AAH00043;BAB91080;BAG37456;EAW51681;EAW51682;NP_001652;P49703 Hs.183153;Hs.709866 1734046;1853594;2107845;2118933 ARF4L_8207;D17S1343;RH70270;SHGC-11073 ARF4L;ARL6 ADP-ribosylation factor 4-like;ADP-ribosylation factor-like 6;ADP-ribosylation factor-like protein 4D;ADP-ribosylation factor-like protein 4L APPROVED protein-coding ENSG00000175906 656 02842 600732 REVIEWED 1342975 ARL6IP1P1 ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 1 14 q11.2 22115933 22118621 - 100288702;378712 ABBA01061265;AE000521;AE000658;AMYH01005596;NG_022838 ARL6IPP1 APPROVED pseudo 23178 INFERRED 7205015 ARL6IP1P2 ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 2 10 p11.21 37283951 37284515 + 646348 ABBA01033308;AL591105;AMYH01002250;NG_022169 pseudo 44971 INFERRED 7205183 ARL6IP1P3 ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 3 11 q14.1 80364469 80365028 - 729790 ABBA01017390;AMYH01003834;AP002759;NG_021793 pseudo 44972 INFERRED 1313675 ARL5B ADP-ribosylation factor-like 5B ARL5B (ARL8) belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supplied by OMIM, Nov 2010] 10 10 10 p12.31 18633827 18652457 + 18988319 19006946 + 18948313 18966940 + 737633;1580863;6480464 12477932 15761153;15489334;15146197;14702039;12853149;21658281;16385451;20932310;22172677;21139048;21890473;21906983;22245584;22505724 221079 B0YIW9;Q96KC2 ABBA01034535;AF494061;AK027275;AL512641;AL700452;AMYH01002156;BC024163;CH471072;CN301486;EF444954;NM_178815 AAH24163;AAM74076;ABM84092;ABM87463;ACA05947;BAB55011;EAW86190;NP_848930;Q96KC2 Hs.25362 ARL8 ADP-ribosylation factor-like protein 5B;ADP-ribosylation factor-like protein 8;ADP-ribosylation-like factor 8;OTTHUMP00000019260 APPROVED protein-coding 23052 12328 608909 VALIDATED 1346010 ARL5A ADP-ribosylation factor-like 5A The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. With its distinctive nuclear/nucleolar localization and interaction with HP1alpha, the protein is developmentally regulated and may play a role(s) in nuclear dynamics and/or signaling cascades during embryonic development. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008] 2 2 2 q23.3 146272160 146299690 - 152365726 152393255 - 152657480 152685009 - 1580863;6480464 15896705;15489334;12477932;12450215;12414990;10931946;21832049;19322201 26225 F8WER2;Q9Y689 ABBA01004781;AC097448;AF087889;AF100740;AF493891;AK292714;AK298937;AMYH01011178;BC001254;BG707385;BM800611;BQ216648;BT009829;BX461356;CH471058;CX867116;NM_001037174;NM_012097;NM_177985 AAD40383;AAH01254;AAM12605;AAP88831;AAP97188;AAX82013;ABM82119;ABM85302;BAF85403;BAG61039;EAX11495;EAX11496;EAX11497;NP_001032251;NP_036229;NP_817114;Q9Y689 Hs.470233 5112175 RH102125 ARFLP5;ARL5 ADP-ribosylation factor-like protein 5;ADP-ribosylation factor-like protein 5A;OTTHUMP00000162713;OTTHUMP00000207220;OTTHUMP00000207221 APPROVED protein-coding 696 12343 608960 REVIEWED 1348114 ARL8A ADP-ribosylation factor-like 8A 1 1 1 q32.1 175225835 175237724 - 200368600 200380489 - 202102532 202113871 - 737633;69939;1580863;6480464 12477932;8889548 15331635;14871887;16710414;16537643;15489334;17207965;10737800;15342556;21139048;21890473;21906983 127829 Q96BM9 AB118752;ABBA01027509;ABBA01027510;AK127138;AK313122;AL592300;AMYH01001644;AW090198;BC015408;BC053358;BC069053;BG876867;BM548962;BM688638;BM999456;BP325806;BU727024;BX421006;CH471067;NM_001256129;NM_138795 AAH15408;ADQ32803;BAD23993;BAG35942;BAG54442;EAW91395;EAW91396;EAW91397;EAW91399;NP_001243058;NP_620150;Q96BM9 Hs.497399;Hs.604697 1761919;2218252 ARL10B_4367;SHGC-145852 ARL10B;FLJ45195;GIE2 ADP-ribosylation factor-like protein 10B;ADP-ribosylation factor-like protein 8A;OTTHUMP00000034102;novel small G protein indispensable for equal chromosome segregation 2;small G protein indispensable for equal chromosome segregation 2 protein-coding ENSG00000143862 25192 09807 VALIDATED 1606161 ARL9 ADP-ribosylation factor-like 9 ARL9 is a member of the small GTPase protein family with a high degree of similarity to ARF (MIM 103180) proteins of the RAS superfamily.[supplied by OMIM, Nov 2008] 4 4 4 q12 54877789 54896005 + 57066132 57084815 + 57371375 57390058 + 6480464 15033445 132946 Q6T311 ABBA01003426;AC108215;AC114766;AMYH01014194;AY439003;CH471057;NM_206919 AAI41543;AAI48698;AAS07576;EAX05499;EAX05500;NP_996802;Q6T311 Hs.444449 1335809;1663271;1683705;2135260;2136488;2146733 D4S1075;D4S1507;D4S1518;G19659;RH10468;SHGC-51363 ADP-ribosylation factor-like protein 9 APPROVED protein-coding 23592 12486 612405 VALIDATED 1316976 ARL6IP4 ADP-ribosylation-like factor 6 interacting protein 4 12 12 12 q24.31 123057673 123060253 + 122030833 122033413 + 123464880 123467460 + 1580863;6480464 10708573;14702039;12477932;11884129;10508919;20098747;12107412;21963094;22113938;22505724 51329 B3V0L0;B3V0L1;F5GYV5;F5H3A0;F5H7X4;F8WCT1;F8WEP2;H7BZV4;Q66PJ3 AA887283;AB035384;ABBA01060439;AC026362;AF267748;AK027285;AK315759;AMYH01004835;AW189362;BC001958;BC015569;BC015909;BC094839;BQ643520;CD672894;CH471054;DQ099385;EU624490;EU624491;NM_001002251;NM_001002252;NM_001278378;NM_001278379;NM_001278380;NM_016638;NM_018694;NR_103512 AAF76892;AAH01958;AAH15569;AAH15909;AAH94839;AAZ13761;ACF07995;ACF07996;BAA94744;BAG38112;EAW98373;EAW98374;EAW98375;EAW98376;EAW98377;EAW98378;EAW98379;EAW98380;EAW98381;EAW98382;NP_001002251;NP_001002252;NP_001265307;NP_001265308;NP_001265309;NP_057722;NP_061164;Q66PJ3 Hs.103561 1771921;1778694;2176072;5107535 RH48254;RH78153;SGC30324;STS-AA022496 MGC814;SFRS20;SR-25;SRp25;SRrp37 ADP-ribosylation factor-like protein 6-interacting protein 4;ARL-6-interacting protein 4;HSP-975;HSVI binding protein;HSVI-binding protein;OTTHUMP00000239432;OTTHUMP00000239433;OTTHUMP00000239435;OTTHUMP00000239436;OTTHUMP00000239437;OTTHUMP00000239438;OTTHUMP00000239439;OTTHUMP00000239440;OTTHUMP00000239441;OTTHUMP00000239442;OTTHUMP00000239443;OTTHUMP00000239444;SR-15;SRp25 nuclear protein;aip-4;splicing factor, arginine/serine-rich 20;splicing regulator SRrp38 protein-coding ENSG00000182196 18076 09640 607668 VALIDATED 1313618 ARL6 ADP-ribosylation factor-like 6 The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). Alternative splicing results in multiple transcript variants of this gene. A vision-specific transcript encoding a different protein has been described (PMID: 20333246). [provided by RefSeq, May 2013] 3 3 q11.2 98966285 99000063 + 97483595 97517373 + 1578724;1578725;1580863;6480464;7240710 15314642;10508919 19236846;19077438;16381901;15489336;15489334;15258860;12477932;12429613;11230166;11076863;10462049;8889548;7987310;20301590;21282186;19478329;20142850;20207729;20333246;19913121;20628086;20801516;20301537;16246095;21139048;23219996 84100 C9IZ13;H7C5H6;Q9H0F7 ABBA01026940;AC110491;AK292958;AK310829;AL136815;AL138043;AMYH01013351;BC024239;BG722744;BM705017;BU183949;BU607306;CH471052;DC323603;NG_008119;NM_001278293;NM_032146;NM_177976;NR_103511 AAH24239;BAF85647;CAB66749;CAL37540;CAL38233;EAW79880;EAW79881;EAW79882;EAW79883;EAW79884;NP_001265222;NP_115522;NP_816931;Q9H0F7 Hs.373801 BBS3;MGC32934;RP55 ADP-ribosylation factor-like protein 6;OTTHUMP00000214308;OTTHUMP00000214309;OTTHUMP00000214310;bardet-Biedl syndrome 3 protein APPROVED protein-coding ENSG00000113966 13210 10588 209900;608845;613575 REVIEWED 6482622 ARMC10P1 armadillo repeat containing 10 pseudogene 1 3 q11.2 94224382 94226494 - 389137 ABBA01026967;AC024218;AMYH01013340;NG_012229 pseudo 43646 INFERRED 1347021 ARL6IP6 ADP-ribosylation-like factor 6 interacting protein 6 2 2 2 q23.3 147188879 147232317 + 153283373 153325669 + 153574407 153617767 + 6480464 17207965;16344560;15342556;14702039;12477932;10508919;21832049 151188 B3KMZ5;H7C0H7;H7C192;Q8N6S5 AA654338;ABBA01004797;AC079344;AF530059;AK023109;AK094696;AK315657;AMYH01011181;AW967583;BC028741;BC070140;BP200063;BP265220;BX437990;CH471058;CQ834436;CQ834476;DA012142;DA801290;NM_152522;NR_024526 AAH28741;AAH70140;AAQ09943;AAX93217;ADQ31833;BAG38023;BAG51157;CAH05433;CAH05453;EAX11475;EAX11476;EAX11477;EAX11478;NP_689735;Q8N6S5 Hs.516468;Hs.643580 1734900;2114916;2121992;2131879;2135132;5019813 A009X25;D2S1676E;G32948;RH16515;SHGC-30474;SHGC-57826 AIP-6;MGC33864;PFAAP1 ADP-ribosylation factor-like protein 6-interacting protein 6;ADP-ribosylation-like factor 6-interacting protein 6;ARL-6-interacting protein 6;OTTHUMP00000162728;aip-6;phosphonoformate immuno-associated protein 1;regulated by phosphonoformate protein-coding ENSG00000177917 24048 12485 VALIDATED 1351870 ARL8B ADP-ribosylation factor-like 8B 3 3 3 p26.1 5101851 5160484 + 5138930 5197601 + 5163930 5222601 + 737633;1580863;6480464 12477932 15331635;14871887;16650381;16537643;15761153;15489334;14702039;16169070;19398576;21802320;21674799;21832049;21987572;21824248;21139048;21890473;21906983;19322201;21963094;21988832;22053931;22993228;23000965;22505724 55207 B4DI85;F2Z344;F8WAW5;Q9NVJ2 AB118751;ABBA01020458;ABBA01020459;AC021999;AC026202;AF086108;AK001564;AK295465;AK298951;AK303872;AL110242;AMYH01012952;BC013131;BC063125;CH471055;CR457264;NM_018184 AAH13131;AAH63125;BAA91759;BAD23992;BAG58397;BAG61050;BAG64810;CAG33545;EAW63919;EAW63920;EAW63921;EAW63922;NP_060654;Q9NVJ2 Hs.250009 1653369;1674888;1687680;1706462;1735084;1735136;1774503;2144971;5113228 1612;D3S2357;D3S2771E;D3S2799E;RH68941;RH98975;SHGC-76669;SHGC-76670;SHGC-81116 ARL10C;FLJ10702;Gie1 ADP-ribosylation factor-like 10C;ADP-ribosylation factor-like protein 10C;ADP-ribosylation factor-like protein 8B;OTTHUMP00000115526;OTTHUMP00000206914;novel small G protein indispensable for equal chromosome segregation 1 protein-coding ENSG00000134108 25564 12483 VALIDATED 6480855 ARMC2-AS1 ARMC2 antisense RNA 1 100874026 AL445189;BG504478 APPROVED miscrna 41008 1345801 ARL6IP1 ADP-ribosylation factor-like 6 interacting protein 1 16 16 16 p12-p11.2 17956727 17966592 - 18710492 18720358 - 18802991 18812857 - 1580863;6480464 14702039;12754298;12477932;10995579;10508919;7584044;19019082;16169070;16189514;15489334;17207965;19060904;20372863;20213509;18029348;21900206;21987572;21139048;21890473;21906983;19322201;22053931;22505724 23204 F5GXP4;H3BPJ2;H3BS91;H3BTX6;Q15041 ABBA01028242;AC138811;AK291137;AK300825;AK300869;AK301636;AK307315;AK308092;AK308744;AMYH01007309;BC010281;BX648446;CH471186;D31885;NM_015161 AAH10281;ADQ32858;BAA06683;BAF83826;BAH13355;BAH13361;BAH13527;EAW50257;EAW50258;NP_055976;Q15041 Hs.634882 1684224;1848029 D16S3202;RH25299 AIP1;ARL6IP;ARMER;KIAA0069 ADP-ribosylation factor-like protein 6-interacting protein 1;ARL-6-interacting protein 1;OTTHUMP00000162056;aip-1;apoptotic regulator in the membrane of the endoplasmic reticulum protein-coding ENSG00000170540 697 09641 607669 PROVISIONAL 1344465 ARL6IP5 ADP-ribosylation-like factor 6 interacting protein 5 Expression of this gene is affected by vitamin A. The encoded protein of this gene may be associated with the cytoskeleton. A similar protein in rats may play a role in the regulation of cell differentiation. The rat protein binds and inhibits the cell membrane glutamate transporter EAAC1. The expression of the rat gene is upregulated by retinoic acid, which results in a specific reduction in EAAC1-mediated glutamate transport. [provided by RefSeq, Jul 2008] 3 3 p14 69216780 69237929 + 69134090 69155239 + 1299537;1580863;6480464 11242046 18684713;18167356;17646425;17479403;17479402;17479401;17336041;16922813;16640902;16481131;16468075;16430862;16331563;16303743;15864752;15757671;15489334;14761432;12761501;12665801;12562531;12477932;12438930;12119102;11042152;10508919;8125298;16766476;16638297;18029348;20201924;22939629;22433565;19080375;19208635;21987572;22357531;21139048;21890473;21906983;21103663;23000965;23142642;23246001;23461062;23285001;22505724;22452940 10550 C9JQU6;F8WF33;F8WF90;O75915 AB014765;AB052638;AB097051;ABBA01030898;AC092060;AF070523;AF115965;AF125530;AF161476;AK074612;AK223566;AK301637;AK312731;AMYH01013260;AY102608;BC005143;BC020797;BC107899;BG483337;BU149630;CH471055;NM_006407 AAC64360;AAF17224;AAF29091;AAH05143;AAH20797;AAM28950;AAP97237;BAC66462;BAC77404;BAD83603;BAD97286;BAG35602;BAG51976;BAG63118;EAW65473;EAW65474;NP_006398;O75915 Hs.518060;Hs.745255 1663318;1670622;1672068 SHGC-33714;SHGC-52890;SHGC-77077 DERP11;GTRAP3-18;HSPC127;JWA;PRAF3;addicsin;hp22;jmx ADP-ribosylation factor-like protein 6-interacting protein 5;ARL-6-interacting protein 5;JM5;OTTHUMP00000213432;PRA1 domain family 3;PRA1 family protein 3;aip-5;cytoskeleton related vitamin A responsive protein;cytoskeleton-related vitamin A-responsive protein;dermal papilla derived protein 11;dermal papilla-derived protein 11;glutamate transporter EAAC1-interacting protein;glutamate transporter EEAC1-associated protein;prenylated Rab acceptor protein 2;protein JWa;putative MAPK activating protein PM27;putative MAPK-activating protein PM27 APPROVED protein-coding ENSG00000144746 16937 09303 605709 REVIEWED 7204788 ARMC4P1 armadillo repeat containing 4 pseudogene 1 10 27551925 27602834 + 101060171 ABBA01034391;ABBA01034392;ABBA01034393;AL160291;AL354859;AL355493;AMYH01002205;XM_003959931;XM_003960467;XM_003960856 XP_003959980;XP_003960516;XP_003960905 armadillo repeat containing 4 pseudogene 1 protein-coding 44937 MODEL 1605608 ARMC10 armadillo repeat containing 10 This gene encodes a protein that contains an armadillo repeat and transmembrane domain. The encoded protein decreases the transcriptional activity of the tumor suppressor protein p53 through direct interaction with the DNA-binding domain of p53, and may play a role in cell growth and survival. Upregulation of this gene may play a role in hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Sep 2011] 7 7 7 q22.1 97523222 97548131 + 102502564 102527441 + 102715328 102740210 + 6480464 16303743;15252450;14702039;12853948;12839973;12477932;8125298;20379614;20877624;17904127;17342744;21139048;21906983 83787 C9J5N7;H7BXM8;H7BXQ8;H7C2M7;Q8IZC2 ABBA01057995;AC007683;AC073127;AC108167;AF275808;AI761577;AK075500;AK095169;AK225082;AK291818;AK301565;AMYH01017810;AY150851;AY150852;AY150853;AY150854;BC003586;BM989172;BQ004061;BQ440425;BU941174;CH471070;CS051331;NG_030014;NM_001161009;NM_001161010;NM_001161011;NM_001161012;NM_001161013;NM_031905 AAH03586;AAN72313;AAN72314;AAN72315;AAN72316;AAS07456;AAS07482;AAS07531;BAC11655;BAF84507;BAG63060;CAI72160;EAW83311;EAW83312;EAW83313;NP_001154481;NP_001154482;NP_001154483;NP_001154484;NP_001154485;NP_114111;Q8N2F6 Hs.287412 2120594;2169083;2180604;2180606;5024761 A005K35;G20289;G27625;RH36905;RH77969 FLJ37850;MGC3195;PNAS-112;PNAS112;PSEC0198;SVH OTTHUMP00000211682;OTTHUMP00000211683;OTTHUMP00000211684;OTTHUMP00000211685;OTTHUMP00000211688;armadillo repeat-containing protein 10;specific splicing variant involved in hepatocarcinogenesis;splicing variant involved in hepatocarcinogenesis protein APPROVED protein-coding ENSG00000170632 21706 18133 611864 REVIEWED 1312695 ARMC3 armadillo repeat containing 3 Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM, Mar 2008] 10 10 10 p12.31 22904614 23014160 + 23256966 23366520 + 23216954 23326514 + 6480464 16915934;16397042;14702039;12477932;16385451;20379614;23382691 219681 B4DXS3;C9JC46;Q5W042;Q96M49 ABBA01034471;ABBA01034472;AC079269;AK057389;AK090961;AK098711;AK302104;AK302985;AL139815;AMYH01002185;AMYH01002186;AY436643;BC039312;CH471072;DB459427;NM_173081 AAH39312;AAR99738;BAB71463;BAC05389;BAG63485;BAG64125;EAW86137;EAW86138;EAW86139;NP_775104;Q5W041 Hs.659807 1700418;1747619;2113930 AB070084;G65505;RH103830 CT81;FLJ25845;FLJ32827;KU-CT-1;RP11-300B11.1 OTTHUMP00000019303;OTTHUMP00000019304;OTTHUMP00000205394;OTTHUMP00000205395;armadillo repeat-containing protein 3;beta-catenin-like protein;cancer/testis antigen 81 APPROVED protein-coding ENSG00000165309 30964 12487 611226 VALIDATED 1350350 ARMC2 armadillo repeat containing 2 6 6 6 q21 109915511 110041258 + 109276312 109402045 + 109169619 109295352 + 1580863;6480464 16344560;18978678;16381901;15489336;14702039;12477932;11230166;11076863;20080650;21946350;23284291 84071 B0QZC1;G5E993;H0Y4P5;Q8NEN0 ABBA01026140;ABBA01026141;AK095234;AK292499;AK294574;AL136754;AL390208;AL445189;AMYH01016580;AMYH01016581;AW195322;BC030603;CH471051;DA196834;NM_032131 AAH30603;BAF85188;BAG53010;BAG57766;CAB66688;CAL37642;CAL38457;EAW48369;EAW48370;NP_115507;Q8NEN0 Hs.645481 1667503;1670584;1705232;1768762;1852736;2152562;2180136;5111194 D6S2100;GDB:4584994;RH46688;RH66169;SHGC-31355;SHGC-37334;SHGC-78104;WI-18640 DKFZp434P0714;RP11-787I22.1;bA787I22.1 OTTHUMP00000016947;armadillo repeat-containing protein 2 protein-coding ENSG00000118690 23045 09809 VALIDATED 1315828 ARMC4 armadillo repeat containing 4 10 10 10 p12.1-p11.23 27864582 28051379 - 28141103 28327983 - 28101097 28287977 - 6480464 15164054;14702039;12477932;11230166;16385451;20877624;23251661 55130 A8K906;B7Z7I1;E7ESX8;F5H5Q9;Q5T2S8;Q5T2S9;R4GN11 ABBA01034380;ABBA01034381;ABBA01034382;ABBA01034383;AK001238;AK001679;AK292521;AK301708;AK302048;AK302419;AK302627;AL136859;AL355372;AL390866;AMYH01002207;AMYH01002208;BC085611;BC140846;CH471072;NM_018076 AAI40847;BAA91574;BAF85210;BAH13537;BAH13617;BAH13703;BAH13766;CAB66793;EAW86049;EAW86050;NP_060546;Q5T2S8 Hs.127530 2182409;2218254 ARMC4_4371;WI-18023 DKFZp434P1735;FLJ10376;FLJ10817;FLJ32798;RP11-691I13.1 OTTHUMP00000019375;armadillo repeat-containing protein 4 protein-coding ENSG00000169126 25583 10663 VALIDATED 1314376 ARMC12 armadillo repeat containing 12 6 6 6 p21.31 37259440 37271267 + 35812837 35824663 + 35704859 35716685 + 6480464 17081983;15489334;14702039;14574404;12477932 221481 F8WC51;Q5T9G4 ABBA01038241;ABBA01038242;AK058119;AL157823;AMYH01016268;BC033033;CH471081;NM_145028 AAH33033;BAB71672;EAX03844;EAX03845;NP_659465;Q5T9G4 Hs.533066 1697080 RH102021 C6orf81;FLJ25390 OTTHUMP00000016269;OTTHUMP00000016270;OTTHUMP00000215607;armadillo repeat-containing protein 12;hypothetical protein LOC221481;uncharacterized protein C6orf81 APPROVED protein-coding ENSG00000157343 21099 12901 PROVISIONAL 1343337 ARMC1 armadillo repeat containing 1 8 8 8 q13.1 62506147 62537940 - 66677618 66708986 - 66514691 66546452 - 1580863;6480464 15489334;14702039;12477932;17207965;20379614;20877624;21832049;15840729;21139048;19322201;21963094;21988832;23251661 55156 B4E2W7;E5RHK3;E5RJ86;E9PR92;Q9NVT9 ABBA01041859;ABBA01041860;ABBA01041861;ABBA01041862;AC055822;AC100814;AK001373;AK024053;AK304463;AL512767;AMYH01018769;BC011607;BC018846;CH471068;NM_018120 AAH11607;ADQ31864;BAA91656;BAB14803;BAG65279;CAC21684;EAW86880;NP_060590;Q9NVT9 Hs.269542 1657548;1694556;1848633;1853768;2123961;2167142 A004P18;D8S1093;G43227;RH18401;SGC34090;STS-R53749 Arcp;FLJ10511 OTTHUMP00000226552;armadillo repeat-containing protein 1 protein-coding ENSG00000104442 17684 16506 VALIDATED 1315235 ARMC5 armadillo repeat containing 5 16 16 16 p11.2 28829903 28838074 - 31377818 31385989 + 31470317 31478488 + 1580863;6480464 14702039;12477932;11214971;21145461;21963094 79798 E7EMQ9;F5H156;H3BS74;J3KQ26;Q96C12 ABBA01042096;AC026471;AK023125;AK024430;AK294897;AK295790;AK297115;AMYH01007509;AY217348;BC014945;CH471192;NM_001105247;NM_024742 AAH14945;AAO45101;BAB14418;BAB15720;BAG57988;BAG58611;BAG59622;EAW52131;EAW52132;EAW52133;NP_001098717;NP_079018;Q96C12 Hs.732945 FLJ00019;FLJ13063 armadillo repeat-containing protein 5 protein-coding ENSG00000140691 25781 07809 VALIDATED 1347915 ARMC7 armadillo repeat containing 7 17 17 17 q25.1 69698445 69718737 + 70617677 70637955 + 73106082 73126360 + 737633;1580863;6480464 12477932 16189514;15489334;14702039;17207965;21832049 79637 B4DVA4;J3KST7;J3KTE5;Q9H6L4 ABBA01028816;ABBA01028817;AC022211;AC111186;AK025813;AK300997;AMYH01008629;BC011728;CH471099;NM_024585 AAH11728;ADQ33149;BAB15242;BAG62616;EAW89236;EAW89237;EAW89238;EAW89239;NP_078861;Q9H6L4 Hs.413047 2179775 RH15966 FLJ22160 armadillo repeat-containing protein 7 protein-coding ENSG00000125449 26168 08649 PROVISIONAL 1348624 ARMC6 armadillo repeat containing 6 The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 19 19 19 p13.11 19049287 19073824 + 19005471 19029980 + 19144387 19168987 + 737633;6480464 12477932 17353931;15489334;15057824;20811636;8895530;18781797;20639865;21987572;19471022;21139048;21890473;21906983;22505724;22797925 93436 B4E1N1;F5GWV0;F5GYY4;F5GZP0;F5H052;F5H2K4;F5H2X2;F5H3X1;F5H3Y9;F5H4H6;F5H4P3;F5H6J3;F5H7V0;H0YGL0;H0YGQ5;H0YH65;Q6NXE6 ABBA01051306;ABBA01051307;ABBA01051308;AC003038;AC004447;AK295488;AK303914;AMYH01009605;AW615748;BC003700;BC056161;BC067125;BQ012036;BX648486;CH471106;CR749678;CX869901;NM_001199196;NM_033415;Z36779 AAD03162;AAH03700;AAH67125;BAG58410;BAG64843;CAH18469;EAW84775;EAW84776;NP_001186125;NP_219483;Q6NXE6 Hs.77876 1337320;1729413;1850732;1850734 D19S1018;D19S48;D19S566;RH77737 MGC19595;R30923_1 OTTHUMP00000240623;OTTHUMP00000240624;OTTHUMP00000240627;OTTHUMP00000240629;OTTHUMP00000240630;armadillo repeat-containing protein 6 APPROVED protein-coding ENSG00000105676 25049 12488 REVIEWED 5144366 ARMCX3-AS1 ARMCX3 antisense RNA 1 (non-protein coding) X X X q22.1 101398325 101399726 - 100764403 100765808 - 100877747 100879148 - 100128574 AADB02036910;ABBA01045007;AL121883;XM_001714987;XM_001722392;XM_001723116 XP_001715039;XP_001722444;XP_001723168 Hs.711860 ARMCX3 antisense RNA 1 (non-protein coding) protein-coding 41038 MODEL 1347581 ARMCX4 armadillo repeat containing, X-linked 4 The product of this gene belongs to the armadillo repeat-containing family of proteins, which interact with other proteins in a variety of cellular processes. The function of this family member is currently unknown. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] X X X q22.1 101192724 101307940 + 100559939 100587809 + 100673251 100790975 + 737633;6480464 12477932 11181995;14702039;15772651;16344560;17974005;7907279;9770300 100131755 D6RBS8;F8W8Y7;Q5H9R4;Q8N0S0 ABBA01044979;ABBA01044980;ABBA01044981;ABBA01044982;ABBA01044983;ABBA01044984;ABBA01044985;ABBA01044986;ABBA01044987;ABBA01044988;ABBA01044989;ABBA01044990;ABBA01044991;ABBA01044992;ABBA01044993;ABBA01044994;ABBA01044995;ABBA01044996;ABBA01044997;AC234775;AK096955;AK125041;AK126987;AK292543;AL035422;AL050285;AL133280;AMYH01022725;AMYH01022726;AY726601;BC032236;BC036206;CH471115;CR933662;DA450941;DA531702;NG_017196;NM_001256155;NM_152583;NR_028407;NR_045861;NR_045862;NR_045863;NR_045864;Z68873;Z69838 BAC04910;BAF85232;BAG54416;CAI45960;EAX02868;EAX02869;EAX02870;EAX02871;EAX02872;EAX02873;NP_001243084;Q5H9R4 Hs.729062 1335103;1664615;1678561;1681064;1685818;1686961;1702914;2116025;7184716 DXS178;DXS8089;DXS9783;RH65164;RH65720;RH91944;RH93397;RH94111 CXorf35;DKFZp586N0819;DKFZp781M0415;FLJ39636;FLJ43051;FLJ45041;MGC40053 armadillo repeat containing, X-linked 4 pseudogene;armadillo repeat-containing X-linked protein 4 APPROVED protein-coding ENSG00000196440 28615 VALIDATED 1601876 ARMC8 armadillo repeat containing 8 3 3 3 q22.3 136330912 136441107 + 139388838 139498909 + 137906115 138017231 + 6480464 17467196;14702039;12477932;11042152;20224683;21145461;17207965;19615732;23022380;21900206;21139048;18215130 25852 A8MTG8;B7Z637;C9J2I1;C9J625;C9J8P8;C9JAA7;C9JBY2;G5E9V6;G5E9V7;H7C4J4;H7C5B7;H7C5H2;Q96HZ5 ABBA01059094;AC022337;AC068777;AF109184;AF161541;AK001721;AK001882;AK098500;AK127341;AK128702;AK289577;AK296757;AK296837;AK299229;AK299769;AK304558;AK315932;AL096748;AMYH01013531;BC013424;BC032661;BC041699;BF966252;BQ014283;BQ719381;BX538188;CH471052;CX167429;DC304503;DC342329;NM_001267041;NM_001267042;NM_014154;NM_015396;NM_213654;NR_049770 AAF29028;AAH13424;AAH32661;AAH41699;AAQ13493;ADQ32698;BAA91861;BAA91959;BAF82266;BAH12427;BAH12439;BAH12976;BAH13123;BAH14215;BAH14303;CAB46423;EAW79075;EAW79076;EAW79077;EAW79078;EAW79079;EAW79080;EAW79081;EAW79082;NP_001253970;NP_001253971;NP_054873;NP_056211;NP_998819;Q8IUR7 Hs.266826 1650421;1679249;1684840;1687950;1694652;1735324;2114535;2168847;2168849;2178832;5037552;5109689 A005Y32;D3S2952E;D8S2279;D9S1004E;G20601;G31439;G43503;RH11764;RH46236;RH93844;SHGC-53479;STS-H73237 GID5;HSPC056;MGC10058;MGC4880;S863-2;VID28 GID complex subunit 5, VID28 homolog;OTTHUMP00000216633;OTTHUMP00000216634;OTTHUMP00000216635;OTTHUMP00000216636;OTTHUMP00000216637;OTTHUMP00000216638;OTTHUMP00000216639;OTTHUMP00000216640;OTTHUMP00000216641;armadillo repeat-containing protein 8 protein-coding ENSG00000114098 24999 09992 VALIDATED 1346634 ARMD1 age-related macular degeneration 1 (senile macular degeneration) 7240710 9715689 404 699 603075 1345943 ARMCX1 armadillo repeat containing, X-linked 1 This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and two Armadillo (arm) repeats. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX2 and ALEX3, on the X chromosome. [provided by RefSeq, Jul 2008] X X X q21.33-q22.2 101325006 101329176 + 100692170 100696339 + 100805514 100809683 + 1580863;6480464 16303743;15772651;15489334;14702039;12477932;11162520;8125298;20398052;22494058;23000965 51309 Q68D26;Q9P291 AB039670;ABBA01044999;AC234775;AF248963;AK074785;AK222578;AMYH01022726;AMYH01022727;BC002691;CH471115;CQ782722;CR749609;NG_015846;NM_016608;Z73913 AAG44561;AAH02691;ABM84422;ABM87397;BAA94603;BAC11208;BAD96298;CAF85956;CAH18404;CAI41999;EAX02874;EAX02875;NP_057692;Q9P291 Hs.9728 1649267;2134116;2180724 A008W48;RH18254;STS-Z40853 ALEX1;DKFZp686P06199 ARM protein lost in epithelial cancers on chromosome X 1;OTTHUMP00000023686;arm protein lost in epithelial cancers, X chromosome, 1;armadillo repeat-containing X-linked protein 1 APPROVED protein-coding ENSG00000126947 18073 02292 300362 REVIEWED 1602335 ARMCX2 armadillo repeat containing, X-linked 2 This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX1 and ALEX3, on the X chromosome. Two alternative transcripts that encode the same protein but differ in the 5' UTR have been described. Additional alternative transcripts may exist but their full length natures have not been determined. A pseudogene for this locus is located on chromosome 7. [provided by RefSeq, Jul 2008] X X X q21.33-q22.2 101430845 101435442 - 100796923 100801519 - 100910267 100914863 - 6480464 15772651;15489334;15383276;12477932;11162520;9628581;8889548;22249249;21139048 9823 Q5H9D7;Q5H9D8;Q5H9E0;Q5H9E1;Q7L311 AB011084;ABBA01045009;AC234775;AK291342;AL709063;AMYH01022734;BC012541;BC015926;BC052628;BG548388;BM676866;BX648494;CH471115;NG_013221;NM_014782;NM_177949;Z83131 AAH12541;AAH15926;ABM84493;ABM85249;BAA25438;BAF84031;CAI42019;CAI42020;CAI42021;CAI42022;CAI42023;CAI42024;EAX02885;EAX02886;EAX02887;EAX02888;EAX02889;EAX02890;EAX02891;NP_055597;NP_808818;Q7L311 Hs.48924 1644890;1644892;1702546;1849254;2109061;2159230 A001V26;ARMCX2_8998;DXS7453;G19687;RH46199;SGC30561 ALEX2;KIAA0512;MGC13343;MGC8742 ARM protein lost in epithelial cancers on chromosome X 2;OTTHUMP00000023690;OTTHUMP00000023691;OTTHUMP00000023692;OTTHUMP00000023693;OTTHUMP00000023694;OTTHUMP00000023695;OTTHUMP00000023696;OTTHUMP00000023697;arm protein lost in epithelial cancers, X chromosome, 2;armadillo repeat protein ALEX2;armadillo repeat-containing X-linked protein 2 APPROVED protein-coding ENSG00000184867 16869 02293 300363 REVIEWED 5133068 ARMCX5-GPRASP2 ARMCX5-GPRASP2 readthrough This locus represents naturally occurring read-through transcription between the neighboring armadillo repeat containing, X-linked 5 and G protein-coupled receptor associated sorting protein 2 genes on chromosome X. The read-through transcript produces a protein identical to protein encoded by the downstream locus, G protein-coupled receptor associated sorting protein 2. [provided by RefSeq, Dec 2010] X q22.1 101854276 101972661 + 11256614;14702039;15086532;15489334;15772651;20967262 100528062 Q96D09 ABBA01020952;ABBA01020953;ABBA01020954;ABBA01020955;ABBA01020956;ABBA01020957;ABBA01020958;ABBA01020959;ABBA01020960;ABBA01020961;ABBA01020962;ABBA01020963;ABBA01020964;AL035427;AL035551;AMYH01022792;BG392679;NM_001199818 NP_001186747;Q96D09 Hs.522729 1659996 RH78520 FLJ39373;KIAA1701 G-protein coupled receptor-associated sorting protein 2 APPROVED protein-coding 42000 VALIDATED 1350791 ARMCX5 armadillo repeat containing, X-linked 5 X X X q22.1-q22.3 102292727 102297718 + 101740814 101745743 + 101854096 101859087 + 737633;6480464 12477932 18029348;15772651;15489334;14702039;15342556;16344560;21139048;21906983 64860 Q6P1M9 ABBA01020952;AK023031;AK023444;AK096692;AL035551;AL537480;AMYH01022792;BC000792;BC022066;BC047679;BC050678;BC058904;BC064983;BE296807;BI765968;BP230064;BX352705;CH471190;CR749476;DA396979;DA558590;DA684921;DN991222;NG_016347;NM_001168478;NM_001168479;NM_001168480;NM_001168482;NM_001168485;NM_022838 AAH00792;AAH58904;AAH64983;ADR82760;BAB14367;BAG53350;CAH18306;EAW54732;EAW54733;EAW54734;NP_001161950;NP_001161951;NP_001161952;NP_001161954;NP_001161957;NP_073749;Q6P1M9 Hs.522729 2164469;2170462;5123807 A002R08;A006P15;DXS9778 DKFZp686A22185;FLJ12969;FLJ13382 OTTHUMP00000023718;OTTHUMP00000023719;armadillo repeat-containing X-linked protein 5 protein-coding ENSG00000125962 25772 06521 VALIDATED 1604597 ARMC9 armadillo repeat containing 9 2 2 2 q37.1 225838840 225986283 + 231771586 231918158 + 232063294 232238606 + 6480464 16381901;16344560;15815621;15489336;15489334;14702039;12477932;11691810;11347906;11230166;11076863;20379614;19913121;20628086;22863883;21832049;21890473;23400010 80210 C9J535;C9JW07;H7BZA2;H7BZY2;H7C2P6;H7C3U7;Q7Z3E5 AB058771;ABBA01002058;ABBA01002059;ABBA01002060;ABBA01002061;ABBA01002062;ABBA01002063;AC009407;AC018738;AK022646;AK027163;AK309395;AMYH01011555;AMYH01011556;AY219922;AY929062;BC004514;BC065271;BX537956;CA427360;CH471063;DA030137;HY022484;NM_001271466;NM_025139 AAH04514;AAH65271;AAO63554;AAX22760;AAX93129;BAB14153;BAB15678;BAB47497;CAD97923;CAL38172;EAW70950;EAW70951;EAW70952;EAW70953;EAW70954;EAW70955;EAW70956;NP_001258395;NP_079415;Q7Z3E5 Hs.471610 1339325;1340990;1651590;1682670;1693270;1718591;1754357;1779194;1783902;1847893;1852019;2129485;5014051;5015621;5015861;5020946;5022200;7185938 D10S16;D11S3732;D2S1335;D2S1392;D2S2193;D2S427;D8S2278;G27370;G42338;L17971;L18426;RH122981;RH91748;SHGC-106690;SHGC-132378;SHGC-152748;SHGC-24315 ARM;FLJ12584;KU-MEL-1 NS21;OTTHUMP00000164302;armadillo/beta-catenin-like repeats;lisH domain-containing protein ARMC9;melanoma/melanocyte specific protein KU-MEL-1;melanoma/melanocyte-specific tumor antigen KU-MEL-1 protein-coding ENSG00000135931 20730 07778 VALIDATED 1352776 ARMCX6 armadillo repeat containing, X-linked 6 X X X q21.33-q22.3 101390686 101393569 - 100756764 100759647 - 100870108 100872991 - 737633;1580863;6480464 12477932 17081983;15772651;15489334;14702039;16344560;17207965 54470 Q7L4S7 ABBA01045006;ABBA01045007;AC234775;AI076820;AK000818;AK097018;AL121883;AMYH01022733;AMYH01022734;AW955663;BC007677;BX423052;CH471115;DA933518;L20773;NG_021313;NM_001009584;NM_001184768;NM_019007;NR_033669;NR_033670 AAH07677;ADQ31855;BAA91387;CAI42938;EAX02877;EAX02878;EAX02879;NP_001009584;NP_001171697;NP_061880;Q7L4S7 Hs.83530 1655091;1776294;2109063;2157418;7184640 ARMCX6_9788;DXS178;DXS7495;RH1711;RH36040 FLJ20811 OTTHUMP00000023687;protein ARMCX6 protein-coding ENSG00000198960 26094 06536 VALIDATED 1604814 ARMCX3 armadillo repeat containing, X-linked 3 This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] X X X q22.1 101398698 101403409 + 100764776 100769487 + 100878120 100882831 + 6480464 15772651;19304657;18029348;17081983;15489334;12975309;12477932;12107410;11162520;11042152;8125298;16169070;17643375;22863883;21832049;22939629;21139048;21890473;22797925 51566 H3BM63;H3BV87;Q9UH62 AB039669;ABBA01045007;AC234775;AF211175;AK222655;AK291225;AL121883;AL708980;AMYH01022734;AY359079;BC005194;BG035798;BM905704;BU838618;BX647802;CA397688;CH471115;CR933656;NG_013222;NM_016607;NM_177947;NM_177948 AAF24487;AAH05194;AAQ89438;ABM83965;ABM87279;BAA94602;BAD96375;BAF83914;CAI42939;CAI45955;EAX02880;EAX02881;EAX02882;EAX02883;EAX02884;NP_057691;NP_808816;NP_808817;Q9UH62 Hs.592225 1787400;2116734 RH36341;SHGC-64837 ALEX3;DKFZp781N1954;KIAA0443;MGC12199;dJ545K15.2 1200004E24Rik;ARM protein lost in epithelial cancers on chromosome X 3;OTTHUMP00000023688;arm protein lost in epithelial cancers, X chromosome, 3;armadillo repeat-containing X-linked protein 3 APPROVED protein-coding ENSG00000102401 24065 02294 300364 REVIEWED 1606093 ARMS2 age-related maculopathy susceptibility 2 This gene encodes a protein that is thought to play a role in diseases in the elderly. Mutations in this gene have been associated with age-related macular degeneration. [provided by RefSeq, Oct 2008] 10 10 q26.13 124204169 124206858 + 124214179 124216868 + 7240710 18079691;19491722;19268887;19259132;19255159;19202148;19197355;19169232;19168221;19065273;19048105;19001225;18936151;18855541;18762075;18688167;18682812;18682806;18569809;18544707;18515590;18511946;18493315;18461138;18452766;18436811;18423869;18400199;18325906;18292785;18248681;18164066;18162041;18161619;22487577;22840423;22977134;23060141;22509112;18061132;18054635;17884985;17846368;17692272;17675241;17485225;17456821;17426452;17352366;17347568;17325155;17285240;17194541;17000705;16954704;16642439;16174643;16080115;12477932;22694956;20574013;20664794;20664795;20671585;20688737;20385826;19117936;19568762;19661236;19680273;19796758;19797206;19822855;19823576;19845562;19892838;19898184;19933179;19933195;19948975;20007824;20022638;20042647;20140183;20157352;20157618;20238042;20346514;20378180;20381870;20385819;20413980;20456446;20801516;20861866;20881291;20888482;21031019;21236409;21106043;21122828;21191724;21203342;20878164;21252205;21665990;21282580;21397333;21541271;21784201;21896867;23112567;21825189;21855673;22133792;22065928;22138417;22219653;21816153;22232482;23337555;21790300;22035603;22491416;22705344;21959923;22293892;22552255;23494043;22893087;23455636;23098369;23326517;23326481;23111182;22481475;22809783 387715 P0C7Q2 ABBA01062845;AMYH01003135;BC066349;BC090924;BX842242;EU427528;NG_011725;NM_001099667 AAI60152;ACA35288;NP_001093137;P0C7Q2 Hs.120359 ARMD8 OTTHUMP00000235364;age-related maculopathy susceptibility protein 2 APPROVED protein-coding ENSG00000254636 32685 611313 REVIEWED 736413 ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting addition roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Jul 2008] 15 15 q24 78483747 78677333 + 80696692 80890278 + 1580863;631760;6480464;6483352;6907045 12859947;22169972 12239177;17899366;17826745;16381901;15489336;15489334;12477932;12210012;11247670;11230166;11076863;10648817;9205841;14701734;20634891;20706985;11782478;16713569;18711365;19598235;8927054;20211142;21832049;23275444;21945317;16147992;21512513 9915 H0YKW1;Q7Z3A3;Q86TN1;Q9HBZ2 AB002305;ABBA01060624;ABBA01060625;ABBA01060626;ABBA01060627;ABBA01060628;ABBA01060629;AC016705;AC108451;AF185610;AK295763;AMYH01006849;BC029293;BC036099;BC051335;BX538026;BX647212;CH471136;NM_014862 AAG15310;AAH36099;AAH51335;ABM85102;ABM92227;BAA20766;BAG58589;CAD97972;CAL37851;EAW99114;NP_055677;Q9HBZ2 Hs.459070 1665323;1681769;1704112;1708994;1722009;1733646;1751903;1762155;1763451;1765583;1778764;1788714;1794654;1797298;2114896;2132393;2145237;2160067;2164288;2175009;5022200;5022820;5095124 1808;ARNT2,_C.1503+27G>C;ARNT2,_C.2028G>A;ARNT2_2060;D15S1510;D15S614E;D15S823;G59891;L18426;PMC343817P2;RH136634;RH44818;RH48627;RH66360;RH92809;SHGC-105794;SHGC-146049;SHGC-147162;SHGC-149043;SHGC-79562;SHGC-83380;STS-W45696;UniSTS:63083 KIAA0307;bHLHe1 ARNT protein 2;OTTHUMP00000229925;aryl hydrocarbon receptor nuclear translocator 2;class E basic helix-loop-helix protein 1 APPROVED protein-coding ENSG00000172379 16876 606036 REVIEWED 732739 ARNT aryl hydrocarbon receptor nuclear translocator The aryl hydrocarbon (Ah) receptor is involved in the induction of several enzymes that participate in xenobiotic metabolism. The ligand-free, cytosolic form of the Ah receptor is complexed to heat shock protein 90. Binding of ligand, which includes dioxin and polycyclic aromatic hydrocarbons, results in translocation of the ligand-binding subunit only to the nucleus. Induction of enzymes involved in xenobiotic metabolism occurs through binding of the ligand-bound Ah receptor to xenobiotic responsive elements in the promoters of genes for these enzymes. This gene encodes a protein that forms a complex with the ligand-bound Ah receptor, and is required for receptor function. The encoded protein has also been identified as the beta subunit of a heterodimeric transcription factor, hypoxia-inducible factor 1. A t(1;12)(q21;p13) translocation, which results in a TEL-ARNT fusion protein, is associated with acute myeloblastic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] 1 1 q21 149048810 149115810 - 150782181 150849244 - 734608;1580863;634668;2313995;2313996;6480464;6483352;6484113;6907045 10829078;12586752;16096055;18366646;22169972 7539918;8756616;9079689;1317062;1448077;8089148;19416713;19287200;19251700;19203995;19131627;19129502;19030229;19018768;18949049;18676680;18640100;18632753;18568448;18381358;18375543;18174159;17559847;16567799;16554418;16520375;16410262;16364012;16129408;16111650;16084889;16007214;15837795;15492120;15485806;15231748;15190133;14701734;14638687;12774124;12754377;12477932;12354770;12032587;12024042;11879970;11835227;11782478;11768231;11756572;11502749;11393538;11129342;10999956;10777486;10692439;10594042;10395741;9887096;9328285;9271372;9111057;9020169;8940186;8927054;8794892;8384309;8244375;8125298;8065341;7716743;7628454;7488247;1852076;11259606;9712901;12065584;11013261;10471301;15635607;8663540;9113979;9704006;22211302;18029348;18762723;19170196;19625176;19692168;19828131;19850893;20453000;19730683;21298084;20478051;20804916;20508969;8889548;17207965;21081473;19913121;20628086;20634891;20562859;15347669;21199896;21462134;22328528;11259609;21988832;22903824;23275444;21512126;23541582;20049704;21435239;22024478;19390533;21742528;22318606;22387692;21544813;21828933;22037483;22183315;22235307;21983785;15319539;19322201;22306343;22505606;23263486 405 A6NGV6;A8K6P0;B0AZM1;D6RDB3;F8WAP6;P27540 A92931;AB209877;ABBA01049354;ABBA01049355;ABBA01049356;ABBA01049357;ABBA01049358;AF001307;AK223459;AK290177;AK291705;AK293027;AK304772;AK313780;AK315812;AL137290;AL355860;AL834279;AMYH01001383;AMYH01001384;AY430083;BC028362;BC041121;BC060838;BU730937;CH471121;M69238;NG_028248;NM_001197325;NM_001668;NM_178427;Y18500;Y18859 AAA51777;AAC03365;AAH60838;AAQ96598;ADQ33017;BAD93114;BAD97179;BAF82866;BAF84394;BAF85716;BAF98703;BAG36518;BAG65527;CAB65056;CAB69528;CAC21446;CAD38953;EAW53510;EAW53511;EAW53512;EAW53513;EAW53514;NP_001184254;NP_001659;NP_848514;P27540 Hs.632446 1660066;1666356;1683010;1723445;1770700;1797300;1852554;2137707;2175898 ARNT_2212;D1S3204;D1S3284;G15891;RH118541;RH11989;RH93022;SGC30626;WI-16757 HIF-1-beta;HIF-1beta;HIF1-beta;HIF1B;HIF1BETA;TANGO;bHLHe2 HIF-1-beta;HIF1-beta;OTTHUMP00000032943;OTTHUMP00000218217;OTTHUMP00000218218;OTTHUMP00000218219;OTTHUMP00000218220;aryl hydrocarbon receptor nuclear translocator;class E basic helix-loop-helix protein 2;dioxin receptor, nuclear translocator;hypoxia-inducible factor 1, beta subunit;hypoxia-inducible factor 1-beta APPROVED protein-coding ENSG00000143437 700 00524 126110 REVIEWED 732520 ARNTL aryl hydrocarbon receptor nuclear translocator-like The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This complex binds an E-box upstream of the PER1 gene, activating this gene and possibly other circadian rhythym-associated genes. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 p15 13255901 13365389 + 13299325 13408813 + 734609;1580863;6480464 11163178 9079689;9616112;9576906;19470168;19328558;19296127;19277210;18663240;18587630;18517031;18430226;18411297;18228528;17994337;17728404;17457720;17274950;16628007;16528748;16507006;16474406;14750904;14702039;14701734;14701732;12897057;12477932;12397359;11875063;11441146;11439184;10531061;21411511;9989497;9704006;9144434;18644859;14645221;21363938;19912323;15193144;19693801;19839995;19861541;19861640;19934327;20072116;20174623;20180986;20368993;20819778;18662547;20222832;20861012;21102462;19913121;20554694;20628086;23129285;22105622;23003921;20446921;21380491;22510946;21799909;22318606;21990077;22217103;21966465;19922678;23584858;23546644;22990020;23358160;23503662;23033538 406 E9PI92;E9PKF0;E9PKG7;E9PKN1;E9PL54;E9PNI4;E9PPV4;E9PRB1;E9PSD2;F8W6J9;H0YER9;O00315 AB000812;AB000813;AB000814;AB000815;AB000816;ABBA01061125;AC016884;AC022878;AF044288;AK095749;AK128317;AK291510;AK315174;AMYH01003399;BC016674;BC031214;BC041129;BE391243;CH471064;D89722;EF015894;NM_001030272;NM_001030273;NM_001178;U51627;U60415 AAB37248;AAC24353;AAC51213;AAH16674;AAH31214;AAH41129;ABM64205;ABZ91992;ADZ15602;BAA19935;BAA19936;BAA19937;BAA19938;BAA19939;BAA19968;BAF84199;BAG37615;BAG53120;EAW68503;EAW68504;EAW68505;EAW68506;EAW68507;EAW68508;EAW68509;EAW68510;EAW68511;EAW68512;EAW68513;NP_001025443;NP_001025444;NP_001169;O00327 Hs.65734 1339434;1340742;1724021;1740815;1775893;1795400;1853745;5491449 ARNTL_1824;D11S1794;D11S4441;D6S1560;MARC_12777-12778:999891099:1;RH119816;RH78096;WI-14129 BMAL1;BMAL1c;JAP3;MGC47515;MOP3;PASD3;TIC;bHLHe5 ARNT-like protein 1, brain and muscle;OTTHUMP00000197997;OTTHUMP00000197998;OTTHUMP00000197999;OTTHUMP00000198000;OTTHUMP00000198001;PAS domain-containing protein 3;aryl hydrocarbon receptor nuclear translocator-like protein 1;bHLH-PAS protein JAP3;basic-helix-loop-helix-PAS orphan MOP3;basic-helix-loop-helix-PAS protein MOP3;brain and muscle ARNT-like 1;class E basic helix-loop-helix protein 5;member of PAS protein 3;member of PAS superfamily 3 APPROVED protein-coding ENSG00000133794 701 03973 602550 REVIEWED 737603 ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2 This gene encodes a basic helix-loop-helix transcription factor belonging to the PAS (PER, ARNT, SIM) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular oxygen levels, exposure to certain environmental pollutants, and diurnal oscillations in light and temperature. This protein forms a transcriptionally active heterodimer with the circadian CLOCK protein, the structurally related MOP4, and hypoxia-inducible factors, such as HIF1alpha. Consistent with its role as a biologically relevant partner of circadian and hypoxia factors, this protein is coexpressed in regions of the brain such as the thalamus, hypothalamus, and amygdala. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 12 12 p12.2-p11.2 27377255 27464733 + 27485787 27578746 + 1580863;2314371;2314359;6480464 17728404;16893914 11018023;19470168;18228528;15489334;12477932;12055078;11554928;10964693;10864977;14701734;18663240;19913121;20554694;20628086;19605937;19693801;19839995;20072116;20174623;20180986;20368993;10737800;21658431;15147242;19850743;22198637 56938 H0Y5R1;Q9NS70 AB039921;ABBA01068047;ABBA01068048;AC068794;AC092829;AF231338;AF231339;AF246960;AF246961;AF246962;AF246963;AF256215;AK296706;AMYH01004351;BC000172;BC043511;BC125061;BC125062;BQ774827;CH471094;CV388040;GM828357;NG_030359;NM_001248002;NM_001248003;NM_001248004;NM_001248005;NM_020183 AAF71306;AAF71307;AAG34652;AAH00172;AAI25062;AAI25063;AAL50339;AAL50340;AAL50341;AAL50342;BAB01485;BAH12415;CAV28553;EAW96552;EAW96553;EAW96554;NP_001234931;NP_001234932;NP_001234933;NP_001234934;NP_064568;Q8WYA1 Hs.434269;Hs.445447 1681963;1726087;1726143;5015619;5021874;5022651;5109281 D11S2921;D11S3114;D1S1425;G62259;G62346;RH99013;ha1237 BMAL2;CLIF;MGC149671;MGC149672;MOP9;PASD9;bHLHe6 CYCLE-like factor;OTTHUMP00000240584;OTTHUMP00000240585;OTTHUMP00000240586;OTTHUMP00000240587;OTTHUMP00000240588;OTTHUMP00000240589;OTTHUMP00000240590;OTTHUMP00000240591;PAS domain-containing protein 9;aryl hydrocarbon receptor nuclear translocator-like protein 2;basic-helix-loop-helix-PAS protein MOP9;brain and muscle ARNT-like 2;class E basic helix-loop-helix protein 6;member of PAS protein 9 APPROVED protein-coding 18984 16507 614517 REVIEWED 4890650 ARPC3P2 actin related protein 2/3 complex, subunit 3 pseudogene 2 1 1 1 q32.3 184842175 184842704 + 209682239 209682785 + 211615616 211616145 + 391160 ABBA01048191;AL590101;AMYH01001699;NG_022826 pseudo 39431 INFERRED 4890511 ARPC3P3 actin related protein 2/3 complex, subunit 3 pseudogene 3 11 11 11 q21 91209240 91210024 - 93560898 93561856 - 93921418 93922202 - 729494 ABBA01040034;AMYH01003965;AP002784;NG_021798 pseudo 39432 INFERRED 4890485 ARPC3P4 actin related protein 2/3 complex, subunit 3 pseudogene 4 11 11 70939419 70940187 - 73632504 73633272 - 100421973 ABBA01017500;AMYH01003811;AP002770;NG_024384 pseudo 39434 INFERRED 4890724 ARPC3P5 actin related protein 2/3 complex, subunit 3 pseudogene 5 6 6 6 p22.3 17172922 17173693 + 16042992 16043590 + 15934974 15935745 + 441131 ABBA01022176;AL365265;AMYH01016111;NG_022345 pseudo 39435 INFERRED 1353664 ARPC3P1 actin related protein 2/3 complex, subunit 3 pseudogene 1 20 20 20 q13.13 44455619 44456422 + 47184299 47185298 + 47750988 47751791 + 17353931 87171 ABBA01052735;AL133174;AMYH01011963;NG_002363;NG_029453 1687291 RH98959 ARPC3B;dJ470L14.3 APPROVED pseudo 16092 INFERRED 736395 ARPC1B actin related protein 2/3 complex, subunit 1B, 41kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011] 7 7 q22.1 98810265 98830360 + 98972298 98992424 + 631743;1580863;6480464;6484113;6907045 9230079 17353931;16723437;15635413;15489334;15279900;14749719;12853948;12690205;12665801;12477932;12115587;11943145;11741539;11721045;11533442;9359840;9126924;9110174;8619474;11162547;20603326;16344560;22863883;21832049;22939629;21628992;21139048;21890473;21906983;20876399 10095 A4D275;C9J4Z7;C9J6C8;C9JBJ7;C9JEY1;C9JFG9;C9JM51;C9JQM8;C9JTT6;C9K057;F8VXW2;F8WEB3;O15143 AACC02000084;ABBA01013264;ABBA01013265;AC004922;AF006084;AK314818;AMYH01017721;AU143525;AY007111;BC002562;BC002988;BC007555;CH236956;CH471091;NM_005720 AAB64189;AAH02562;AAH02988;AAH07555;ABM83095;ABM86289;BAG37341;EAL23882;EAW76677;EAW76678;EAW76679;EAW76680;NP_005711;O15143 Hs.489284 1663900;1673482;1683475;2133778;2135340 A008N20;GDB:4585391;RH16605;RH47278;RH75270 ARC41;p40-ARC;p41-ARC ARP2/3 protein complex subunit p41;OTTHUMP00000206018;OTTHUMP00000206020;actin related protein 2/3 complex, subunit 1b;actin-related protein 2/3 complex subunit 1B;arp2/3 complex 41 kDa subunit APPROVED protein-coding ENSG00000130429 704 10366 604223 REVIEWED 1344294 ARPC1A actin related protein 2/3 complex, subunit 1A, 41kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 7 7 7 q22.1 93657670 93698057 + 98761446 98801821 + 98923496 98963885 + 631743;1580863;2317557;6480464;6907045 9230079;19145645 8978670;17353931;17072959;15635413;15489334;12853948;12690205;12477932;9359840;8125298;20570966;21533175;17086175;16344560;22863883;22939629;19322201;21139048;21890473;21906983 10552 B4DLQ7;E9PF58;F8WFD3;Q92747 AACC02000084;AB209059;ABBA01013265;ABBA01013266;ABBA01013267;AC004834;AC004922;AK223015;AMYH01017721;BC006445;BC039594;BC047889;BC054027;BM924483;CH236956;CH471091;DA089818;NM_001190996;NM_006409;Y08999 AAH39594;AAH47889;AAH54027;AAS00381;ACE86776;ACE87462;ADZ15604;BAD92296;BAD96735;CAA70203;EAL23883;EAW76681;EAW76682;EAW76683;NP_001177925;NP_006400;Q92747 Hs.124126 2168965;5020853;5113457 D7S2721;RH11961;SHGC-5612 Arc40;SOP2Hs;SOP2L OTTHUMP00000206032;OTTHUMP00000206034;SOP2-like protein;actin binding protein (Schizosaccharomyces pombe sop2-like);actin-related protein 2/3 complex subunit 1A APPROVED protein-coding ENSG00000241685 703 07252 604220 REVIEWED 5013864 ARPC4-TTLL3 ARPC4-TTLL3 readthrough This locus represents naturally occurring read-through transcription between the neighboring ARPC4 (actin related protein 2/3 complex, subunit 4) and TTLL3 (tubulin tyrosine ligase-like family, member 3) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 3 p 9834232 9878040 + 12477932;14702039;20967262;21906983 100526693 H7C0A3;P59998 ABBA01020398;ABBA01020399;ABBA01020400;AC018809;AC022382;AK024110;AMYH01012964;BC025289;NM_001198793 BAB14828;NP_001185722 Hs.323342 1778680;1855946;2110003;2180457 RH17932;RH47393;SHGC-33325;TTLL3_9463 FLJ14048 ARPC4-TTLL3 fusion protein;ARPC4-TTLL3 read-through transcript;OTTHUMP00000220174;OTTHUMT00000364820 APPROVED protein-coding ENSG00000250151 38830 VALIDATED 1314126 ARPC2 actin related protein 2/3 complex, subunit 2, 34kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 2 2 q36.1 218790119 218827316 + 219081874 219119071 + 631743;1580863;6480464;6484113;6907045 9230079 21251247;21319273;22261722;11162547;18836448;18708039;17353931;17350576;16027158;15793564;15635413;15489334;15279900;14702039;12665801;12477932;11741539;11721045;10235267;9359840;8812419;11018051;11882288;18029348;19861958;20308062;20974812;22863883;23148219;22939629;21975549;21139048;21890473;21906983;22188208;16300736;21963094;23000965;23128233;23251661;15146197;23383273;11943145;20603326;20876399;22505724 10109 C9JTV5;G5E9J0;G5E9S7;H7C3F9;O15144;Q53R19 ABBA01023875;ABBA01023876;AC021016;AC097483;AF006085;AF279893;AK092520;AK093625;AK290268;AMYH01011494;BC000590;BG282181;BG765898;BT006898;CH471063;CN291458;NM_005731;NM_152862;U50523 AAB64190;AAC50874;AAH00590;AAK07550;AAP35544;AAX93213;BAF82957;EAW70591;EAW70592;EAW70593;EAW70594;EAW70595;EAW70596;EAW70597;NP_005722;NP_690601;O15144 Hs.529303 1767437;1797074;2137663;2184289;5016478;5022322;5024756 ARPC2_(3);D11S2560;D2S2896;G16343;GDB:434012;RH80030;STS-U50523 ARC34;PNAS-139;PRO2446;p34-Arc ARP2/3 protein complex subunit 34;OTTHUMP00000164144;OTTHUMP00000165866;actin-related protein 2/3 complex subunit 2;arp2/3 complex 34 kDa subunit APPROVED protein-coding ENSG00000163466 705 10367 604224 REVIEWED 6481301 ARPP21-AS1 ARPP21 antisense RNA 1 100874098 AC016943 APPROVED miscrna 40785 1323728 ARPC3 actin related protein 2/3 complex, subunit 3, 21kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p21 subunit, has yet to be determined. [provided by RefSeq, Jul 2008] 12 12 12 q24.11 110499460 110514921 - 109357089 109372541 - 110872706 110888158 - 631743;1580863;6480464;6484113;6907045 9230079 17353931;16169070;15793564;15635413;15489334;12665801;12477932;11790298;11741539;11721045;11162547;11146629;9359840;9000076;21251247;11018051;9889097;17207965;22863883;23148219;22939629;12769847;18781797;21900206;21987572;21139048;21890473;21906983;22053931;22505724;19738201;21963094;22623428;23000965 10094 C9JZD1;F8VR50;O15145 ABBA01005107;ABBA01005108;ABBA01005109;AC144548;AF004561;AF006086;AI144468;AK297309;AK311789;AMYH01004743;BC067747;BC078162;BF434378;BG723870;BM999380;CH471054;CR407667;DQ328220;NM_001278556;NM_005719 AAB61466;AAB64191;AAH67747;AAH78162;ABC59627;ADQ32064;BAG34732;BAG59775;CAG28595;EAW97912;EAW97913;NP_001265485;NP_005710;O15145 Hs.524741 1687291;2168606 RH48745;RH98959 ARC21;p21-Arc ARP2/3 protein complex subunit p21;OTTHUMP00000166104;OTTHUMP00000166106;actin-related protein 2/3 complex subunit 3;arp2/3 complex 21 kDa subunit APPROVED protein-coding ENSG00000111229 706 09175 604225 REVIEWED 1320803 ARPC4 actin related protein 2/3 complex, subunit 4, 20kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. This complex controls actin polymerization in cells and has been conserved throughout eukaryotic evolution. This gene encodes the p20 subunit, which is necessary for actin nucleation and high-affinity binding to F-actin. Alternative splicing results in multiple transcript variants. Naturally occurring read-through transcription exists between this gene and the downstream tubulin tyrosine ligase-like family, member 3 (TTLL3), which results in the production of a fusion protein. [provided by RefSeq, Nov 2010] 3 3 p25.3 9809227 9823789 + 9834179 9848789 + 631743;6480464;6484113;6907045 9230079 17274980;16169070;15635413;15489334;14702039;12665801;12477932;11741539;11721045;9359840;17353931;12451597;11162547;11018051;18805923;20404198;20959098;16344560;22863883;23148219;23106098;22939629;21139048;21906983;12769847;18781797;21987572;19738201;19805454;21890473;21963094;22623428;23000965;16300736;19322201;23267127;20876399;22505724 10093 F8WCF6;F8WDD7;F8WDW3;F8WE39;P59998;R4GN08 ABBA01020399;ABBA01020400;AC022382;AF006087;AF019888;AI612891;AK074205;AMYH01012964;AW408422;BC012596;BC065423;BG938423;BI768875;BI910730;BM045872;BQ688329;BX419672;CH471055;DA226584;DA909066;DB060690;NM_001024959;NM_001024960;NM_001198780;NM_005718 AAB64192;AAB71548;AAH12596;AAI52791;EAW64001;NP_001020130;NP_001020131;NP_001185709;NP_005709;P59998 Hs.323342 2157666;2161323 RH65849;SHGC-76697 ARC20;MGC13544;p20-Arc Arp2/3 protein complex subunit p20;OTTHUMP00000165252;OTTHUMP00000207518;OTTHUMP00000207520;OTTHUMP00000233907;actin-related protein 2/3 complex subunit 4;arp2/3 complex 20 kDa subunit APPROVED protein-coding ENSG00000241553 707 10368 604226 REVIEWED 1323427 ARPC5 actin related protein 2/3 complex, subunit 5, 16kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 1 1 1 q25.3 156706364 156716017 - 181861955 181871608 - 183595328 183605076 - 631743;1580863;6480464;6484113;6907045 9230079 15146197;21281821;22089643;22378351;17353931;9359840;16710414;15489334;14702039;12829704;12665801;12477932;11741539;11721045;11162547;10508170;12451597;19615732;17207965;22939629;22863883;23148219;17620599;21139048;21890473;21906983;19322201;20876399;22505724 10092 B1ALC0;O15511 ABBA01027747;AF006088;AF017807;AI148784;AK095424;AK129598;AL137800;AMYH01001553;BC057237;BC071857;BI758106;CH471067;CN291383;NM_001270439;NM_005717 AAB64193;AAB70561;AAH57237;AAH71857;AAI52790;ADQ32213;BAG53053;EAW91163;EAW91164;NP_001257368;NP_005708;O15511 Hs.518609 1653221;1667009;1676926;1690320;1849758 RH12696;RH76379;RH78011;SHGC-56746;SHGC-75978 ARC16;MGC88523;dJ127C7.3;p16-Arc Arp2/3 protein complex subunit p16;OTTHUMP00000033266;OTTHUMP00000033267;OTTHUMP00000038626;actin-related protein 2/3 complex subunit 5;arp2/3 complex 16 kDa subunit APPROVED protein-coding ENSG00000162704 708 11969 604227 REVIEWED 1606318 ARPP19 cAMP-regulated phosphoprotein, 19kDa The 19-kD cAMP-regulated phosphoprotein plays a role in regulating mitosis by inhibiting protein phosphatase-2A (PP2A; see MIM 176915) (summary by Gharbi-Ayachi et al., 2010 [PubMed 21164014]).[supplied by OMIM, Feb 2011] 15 15 15 q21.2 29734478 29756262 - 50626724 50648505 - 52839432 52861213 - 6480464 9653196;15489334;14702039;12477932;11771749;11279279;10754390;8687439;8120638;2160982;20098747;20471941;21164014;21509594;17893145;21832049;19322201 10776 H3BMD8;H3BQ52;H3BTD3;P56211 ABBA01039060;ABBA01039061;AC025917;AF084555;AJ223091;AK023195;AK123616;AK311751;AL833077;AMYH01006653;AW407610;BC003418;BC100015;BQ422616;CH471082;CR457132;NM_006628 AAD52044;AAH03418;AAI00016;BAG34694;CAA11115;CAD89929;CAG33413;EAW77454;EAW77455;NP_006619;P56211 Hs.600029 1664249;1682898;1694614;1734836;1774976;1778983;1856137;5020948;5022200;5022450 D10S275;D15S1182;D1S2237;D2S1588E;G35510;G43323;L18426;RH44327;RH46469;STS-AA040764 ARPP-16;ARPP-19;ARPP16;ENSAL;FLJ41622 cAMP-regulated phosphoprotein 19;cyclic AMP phosphoprotein, 19 kD;endosulfine alpha-like APPROVED protein-coding ENSG00000128989 16967 09264 605487 VALIDATED 1318888 ARPC5L actin related protein 2/3 complex, subunit 5-like 9 9 9 q33.3 98279433 98287649 + 126671305 126679517 + 127631484 127639696 + 1580863;6480464;6907045 12451597;17353931;17081983;16169070;15489334;15164053;14702039;12477932;17207965;22863883;22939629;21139048;21693764;21906983;21987572;17620599 81873 Q9BPX5 ABBA01043758;AF087842;AK056174;AK315604;AL354928;AMYH01021708;BC000018;BC000798;BC002418;BC031388;CH471090;NM_030978 AAH00018;AAH00798;AAH02418;AAP97155;ADQ33175;BAG51639;EAW87603;EAW87604;NP_112240;Q9BPX5 Hs.132499 1657352;1851588;2148220;2186971;2186973 G19389;RH1557;RH41807;SGC32156;WI-20843 ARC16-2;MGC3038 OTTHUMP00000022110;OTTHUMP00000022111;actin-related protein 2/3 complex subunit 5-like protein;arp2/3 complex 16 kDa subunit 2 protein-coding 23366 12490 PROVISIONAL 1350252 ARR3 arrestin 3, retinal (X-arrestin) X X cen-q21 69404910 69418415 + 69488185 69501690 + 1580863;724592;6480464;6893539;6893556;6484113 11934883;22074925;21824527 22378779;8224247;19001375;18802075;17680991;17353931;16189514;15772651;15489334;12918707;12853434;12850288;12824223;12486395;12477932;11877451;11729201;11063754;9931451;9852134;9827808;8612728;8308033;16169070;20460384;17947233;20056609;21203429;22242112;20505072;21118812;21466165;17620599;22523077;23139825;9169477 407 D6RCT3;P36575 ABBA01067552;ABBA01067553;ABBA01067554;AF033105;AF076512;AL357752;AMYH01022525;AMYH01022526;BC012096;BG472156;CH471132;CR456849;EU883571;NM_004312;U03626 AAB84302;AAC27524;AAC78395;AAH12096;ABM83169;ABM86370;ACG60645;CAG33130;EAX05348;EAX05349;EAX05350;EAX05351;NP_004303;P36575 Hs.308 1772605;1848407;2147556 DXS7111;L77849;SHGC-30005 ARRX C-arrestin;OTTHUMP00000023466;OTTHUMP00000023467;X-arrestin;arrestin 4;arrestin-C;cArr;cone arrestin;retinal cone arrestin-3 protein-coding ENSG00000120500 710 02358 301770 VALIDATED 1320585 ARRDC1 arrestin domain containing 1 9 9 9 q34.3 111023757 111033473 + 139619917 139629633 + 140500096 140509812 + 737633;6480464 12477932 15489334;15164053;14702039;22315426;21191027;21832049;21139048 92714 F2Z3I4;Q5T370;Q5T371;Q8N5I2 AA552336;AB209523;ABBA01022779;AJ420420;AK001822;AK308376;AL365502;AL542109;AMYH01021914;BC032346;CH471090;CR627251;NM_152285 AAH32346;ADZ15345;BAD92760;EAW88403;EAW88404;EAW88405;NP_689498;Q8N5I2 Hs.12999 1670730;1779167;2128682;5014051;5015619;5016478;5020946;5022200;5022578;5022651;5037552 D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;GDB:434012;L17971;L18426;STS-H18962;STS-N91817;STS-R41874 MGC40555;RP11-48C7.5 OTTHUMP00000022707;OTTHUMP00000022709;arrestin domain-containing protein 1 protein-coding ENSG00000197070 28633 12491 VALIDATED 1606317 ARPP21 cAMP-regulated phosphoprotein, 21kDa This gene encodes a cAMP-regulated phosphoprotein. The encoded protein is enriched in the caudate nucleus and cerebellar cortex. A similar protein in mouse may be involved in regulating the effects of dopamine in the basal ganglia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 3 3 3 p22.3 35625833 35777956 + 35658853 35810992 + 35680666 35835988 + 6480464 15489334;15144186;14702039;12477932;10931946;8889548;8120638;19734545;20379614;17207965;21116278;15499021;21044950;10854908;16344560 10777 A8K0T4;A8K1F3;AAB30130;C9J091;C9J2U3;C9J5R1;C9JD93;C9JI74;C9JQQ6;C9JTF2;C9JTX6;F8WDL2;H7C0P9;H7C1B6;H7C2X8;H7C3J7;Q9UBL0 ABBA01024877;AC016943;AC104308;AC133143;AF112220;AK055064;AK091377;AK093648;AK289649;AK289868;AK294484;AL133109;AMYH01013082;AV718064;AV718166;BC017805;BC031106;BC036399;BC036548;BC041385;BC051828;BC066651;BG535216;BQ423297;BU741999;BX488342;BX537647;CH471055;DA275579;NM_001025068;NM_001025069;NM_001267616;NM_001267617;NM_001267618;NM_001267619;NM_016300;NM_198399 AAB30130;AAF17207;AAH17805;AAH31106;AAH36399;AAH41385;AAH51828;AAH66651;ACE86449;ACE87125;ADQ32260;BAF82338;BAF82557;BAG51459;BAG57707;CAB61414;EAW64470;EAW64471;EAW64472;NP_001020239;NP_001020240;NP_001254545;NP_001254546;NP_001254547;NP_001254548;NP_057384;NP_938409;Q9UBL0 Hs.475902 1651868;1653307;1667713;1680579;1697418;1721613;1735078;1739039;1773530;1787784;1788926;1854115;2156220;5123929 D3S2765E;D3S3241;G59816;RH102209;RH71422;RH79954;SHGC-173166;SHGC-32030;SHGC-76804;SHGC-76823;SHGC-76827;UniSTS:224247;WI-10468;WI-16264 ARPP-21;FLJ32997;R3HDM3;RCS;TARPP OTTHUMP00000161358;OTTHUMP00000208635;OTTHUMP00000208636;OTTHUMP00000208637;OTTHUMP00000208638;OTTHUMP00000208639;OTTHUMP00000208640;OTTHUMP00000208641;OTTHUMP00000208646;OTTHUMP00000208647;OTTHUMP00000208648;OTTHUMP00000208649;OTTHUMP00000208651;OTTHUMP00000208652;OTTHUMP00000208653;OTTHUMP00000208654;OTTHUMP00000208656;OTTHUMP00000208657;OTTHUMP00000208658;R3H domain containing 3;cAMP-regulated phosphoprotein 21;cyclic AMP-regulated phosphoprotein, 21 kD;thymocyte cAMP-regulated phosphoprotein APPROVED protein-coding ENSG00000172995 16968 09265 605488 REVIEWED 1353583 ARRDC5 arrestin domain containing 5 19 19 19 p13.3 4827460 4839887 - 4841449 4853879 - 4890449 4902879 - 6480464 12886014 645432 A6NEK1 ABBA01056034;ABBA01056035;ABBA01056036;AC027319;AMYH01009348;AMYH01009349;NM_001080523 A6NEK1;NP_001073992 Hs.574574 arrestin domain-containing protein 5 protein-coding ENSG00000205784 31407 PROVISIONAL 1348140 ARRDC3 arrestin domain containing 3 5 5 5 q14.3 86566595 86581203 - 90700297 90714877 - 90664541 90679149 - 737633;6480464 12477932 16344560;16269462;15489334;10718198;19605364;20306291;17207965;20559325;20603614;23236378;21652578;21191027;21982743;22589738;23208550;23319801 57561 Q96B67 AB037797;ABBA01062168;ABBA01062169;AC008799;AK025028;AK026917;AK291753;AMYH01015480;BC015928;BC053619;CH471084;CS300561;DA110572;NM_020801 AAH15928;AAH53619;ADQ32737;BAA92614;BAF84442;CAK32225;EAW95997;NP_065852;Q96B67 Hs.24684 1735472;2165120;2170159 Bdy70c06;D5S1593E;STS-R33609 KIAA1376;TLIMP OTTHUMP00000222400;TBP-2-like inducible membrane protein;arrestin domain-containing protein 3;thioredoxin-binding protein-2-like inducible membrane protein-coding ENSG00000113369 29263 09810 612464 VALIDATED 1320117 ARRDC2 arrestin domain containing 2 19 19 19 p13.11 18013652 18026620 + 17972944 17985911 + 18111944 18124911 + 6480464 15498874;15489334;14702039;12477932;9110174;8619474;21191027 27106 Q8TBH0 ABBA01051243;ABBA01051244;AC020904;AF131826;AF193051;AK000689;AK127940;AK128588;AK314657;AMYH01009582;AMYH01009583;AMYH01009584;BC022516;BQ940909;CH471106;NM_001025604;NM_015683 AAD20053;AAG22479;AAH22516;BAC87200;BAG37216;EAW84648;EAW84649;EAW84650;EAW84651;NP_001020775;NP_056498;Q8TBH0 Hs.515249 1778714 RH78495 CLONE24945;PP2703 arrestin domain-containing protein 2 protein-coding ENSG00000105643 25225 12492 VALIDATED 1350901 ARSC2 arylsulfatase C, isozyme F 1690506;6586638 413 716 301780 732370 ARRB1 arrestin, beta 1 Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described. [provided by RefSeq, Jan 2011] 11 11 q13 74654130 74740521 - 74971166 75062875 - 1580863;1578803;4140419;5133417;5147673;5509893;5509888;5509867;5509895;6480464;6907045;7207059;5135529;7207469;7207060 15514408;18268361;16304060;16918397;21066892;21232674;22015551;20965243;22192592;19229505;20703892;15637145 21479985;16709866;16670094;16580177;16492667;16432186;16407241;16319069;16280323;16189514;16181421;15878855;15699339;15611106;15498833;15489334;15489220;15125834;15084596;14711824;14709160;12582207;12538596;12477932;12464600;12399592;12393857;12220636;12105416;12065593;12020767;11867621;11742073;11726668;11579203;11533043;11278883;11259507;11170396;10973280;10862778;10770944;10753943;10347182;10347142;10196135;9827808;9668034;9501202;9388255;9169477;8889548;8885248;8486659;7896272;18544533;11356842;14500724;11777907;2163110;17353931;17620599;9924018;10823817;19306926;18940181;18775329;18768750;18729826;18703513;18678875;18534983;18276584;17947233;17890288;17623778;17579607;17436063;17377064;17272726;17008309;20353998;10521508;10644702;11031247;11252894;11694590;15173580;16051150;16325578;16378096;16611986;17900862;19153083;19262695;19279230;19363159;19404096;19453261;19509284;19609003;19661922;19879840;20086095;20353754;20379614;20855896;20956518;17207965;16344560;20650893;20936779;20717968;20725137;21502318;20801186;21081496;21233215;21212384;16778767;20448034;22961449;21642958;11588219;22101011;21589858;23418490;20505072;21466165;21857681;21795688;20360068;21243522;19372219;22106258;22267743;21685944;21044950;21378163;17500066;23317236;23589893;23449980;16524428;17498700;18787115;19202075;21988832;23236378;19782076;23400010;23582260;22871966;22487268 408 B7Z1Q3;E9PM35;H0YD81;H0YDS1;H0YEQ2;H0YET9;J3KPP7;P49407 ABBA01017469;ABBA01017470;ABBA01017471;AF084040;AF084940;AK074660;AK289718;AK293758;AL157484;AMYH01003814;AP000744;AP001972;BC003636;BM681392;BQ883950;BU594296;BX402200;CB853136;CD365891;CH471076;CR735690;DA358665;DQ314865;FJ348262;L04685;NG_028118;NM_004041;NM_020251 AAA35558;AAA35559;AAC33295;AAC34123;AAH03636;ABC40724;ACI96306;ADQ31775;BAF82407;BAH11589;EAW74960;EAW74961;EAW74962;NP_004032;NP_064647;P49407 Hs.503284;Hs.625320 1339457;1690183;1772014;1775578;1775657;1775808;1853052;2122714;2154160;2182745;5019659;5024413;5037552 A009B14;D11S1007;D11S4555;D17S1790;D8S2279;G31124;G32376;L17877;STS-M78804;WI-15243;WI-16137;WI-20596;WI-21016 ARB1;ARR1 OTTHUMP00000229765;OTTHUMP00000229766;OTTHUMP00000229801;arrestin 2;arrestin beta-1;beta-arrestin;beta-arrestin-1 APPROVED protein-coding 711 00146 107940 REVIEWED 731570 ARRB2 arrestin, beta 2 Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] 17 17 p13 4560538 4571544 + 4613789 4624795 + 1580863;734975;4140419;5133417;5147673;5509867;5509890;5509895;6480464;6484113;6907045;5135529;7207059;7207469;7207060 12032308;18268361;16304060;16918397;22015551;21167192;20965243;19229505;22192592;20703892;15637145 17353931;17620599;12958365;9346876;19458261;19453261;19416857;19363159;19306926;19279230;19239323;19219857;19188335;19171933;19071087;19049562;19008961;18940181;18937294;18802075;18801735;18768750;18703513;18691971;18621717;18435604;18408005;18039931;18036556;18006496;17984062;17978999;17761157;17713785;17579607;17565992;17540773;17377064;17272726;17256744;17233643;17038311;17005854;16968782;16894395;16820410;16689683;16605244;16580177;16513835;16308565;16181421;16103897;16038799;15888437;15817468;15728711;15699339;15699045;15687500;15635042;15634674;15626751;15618519;15528268;15489334;15489220;15364949;15361545;15355986;15231748;15125834;14769794;14711824;14702039;12958364;12949261;12654503;12582207;12538596;12488444;12477932;12473660;12464600;12370187;12186555;12105416;12070169;11877451;11867621;11729201;11588219;11535606;11533043;11356842;11279203;11259507;11226259;11090355;10858453;20864483;21258807;10644702;10097102;9668034;9037196;8486659;7695743;1587386;1517224;18544533;17947233;16169070;14500724;22369787;20457218;20936779;20035620;20497256;15173580;15611106;15878855;16051150;16325578;16378096;16611986;18604210;19531493;19730683;19794961;19846537;19874574;20056609;20478633;20514076;20228252;20505072;20656684;15782195;20734064;21296876;21256133;21152433;12574160;20801186;21081496;21306178;21321125;21378163;21466165;19424180;20100572;21642958;21644508;21389118;21589858;23527545;23782696;22242112;21645452;21708946;21952200;18191226;19165858;19372219;20360068;21833475;22006018;22472784;21502318;21890473;21906983;22610101;19262695;19782076;23208550;17500066;21318602;16524428;18787115;19060904;19202075;21988832;23188799;9169477;22333895;22773819;18445652;22562249;23069267;23341447;23449980;22523395;23139825;17855543;22190034;22735336;22871966;12393857;23077507;23236378;23297229;23382074 409 I3L0V6;I3L1M6;I3L412;K7EL17;K7ENA6;Q59EM5;Q68DZ5;Q6ICT3 AB209786;ABBA01054772;AC091153;AF106941;AK097542;AK290951;AK297059;AK297181;AMYH01008042;BC007427;BC039066;BC067368;BC095450;BG723452;CH471108;CR450310;CR749218;DQ314866;DQ664180;EU883572;NM_001257328;NM_001257329;NM_001257330;NM_001257331;NM_004313;NM_199004;NR_047516;Z11501 AAC99468;AAH07427;AAH67368;ABC40725;ABG47460;ABM84152;ABM87555;ABW03579;ACG60646;BAC05094;BAD93023;BAF83640;BAG59581;BAG59672;CAA77577;CAG29306;CAH18075;EAW90419;EAW90420;EAW90421;EAW90422;NP_001244257;NP_001244258;NP_001244259;NP_001244260;NP_004304;NP_945355;P32121 Hs.435811 1733410;2107857;2175314;2181033 ARRB2_8210;D17S1272;RH18345;WI-11146 ARB2;ARR2;BARR2;DKFZp686L0365 OTTHUMP00000115951;arrestin 3;arrestin beta-2;beta-arrestin-2 APPROVED protein-coding ENSG00000141480 712 00147 107941 REVIEWED 6768919 ARRDC3-AS1 ARRDC3 antisense RNA 1 5 q14.3 90676164 90716532 + 12477932 100129716 ABBA01062168;ABBA01062169;AC008799;AMYH01015480;BC043415;NR_027435 Hs.116364 2122948 D21S1450 APPROVED miscrna 44145 VALIDATED 1323388 ARRDC4 arrestin domain containing 4 15 15 15 q26.3 74920256 74933391 + 96304947 96318064 + 98503933 98517068 + 737633;6480464 12477932 18307387;16368877;16344560;15489334;14702039;19605364;20634892;21890473;23236378 91947 A8K2F6;F5H824;Q8NCT1 AA872967;ABBA01032403;AC024651;AK026436;AK093364;AK290221;AK296448;AK316280;AMYH01006959;BC028704;BC038453;BC070100;BY797927;CH471101;DB089068;NM_183376 AAH28704;AAH70100;BAF82910;BAG52696;BAG59099;BAH14651;EAX02213;EAX02214;NP_899232;Q8NCT1 Hs.6093 1646033;2139047;2183806;5017491 A002R32;A008T31;ARRDC4;D15S1330 FLJ36045 OTTHUMP00000194782;arrestin domain-containing protein 4 protein-coding ENSG00000140450 28087 10664 VALIDATED 5488918 ARSD-AS1 ARSD antisense RNA 1 X 2822945 2824188 + 100506356 XR_110924;XR_113297 1665570;2159978 RH1702;RH36003 APPROVED miscrna 40085 1343522 ARSDP1 arylsulfatase D pseudogene 1 Y Y Y q11.21 1451726 1485439 + 12984669 13009311 + 14474762 14499204 + 12815422;8845834;18021436 10034 ABBA01065658;ABBA01065659;ABBA01065660;ABBA01065661;AC002992;NG_000881 1678571;2188293;2188301;5017965;5022822;5095126;5095128;5095130;5095132;5095134;5117672 ARSDP-10;ARSDP-2;ARSDP-3;ARSDP-4;ARSDP-7;ARSDP-8;ARSDP-9;G66179;G66183;GDB:595531;RH38684 ARSDP;ARSDY1 APPROVED pseudo 718 INFERRED 1353090 ARSFP1 arylsulfatase F pseudogene 1 Y Y Y q11.21 1344930 1350665 - 14373004 14378739 - 14373004 14378739 - 12815422 23757 ABBA01065675;ABBA01065676;ABBA01065677;AC004772;NG_002804 1341229;1711432 DXS1233;G42673 ARSFP APPROVED pseudo 722 INFERRED 1344063 ARSEP1 arylsulfatase E pseudogene 1 Y Y Y q11.21 1429956 1445213 + 12962892 12978353 + 14452985 14468246 + 12815422;8845834 10033 ABBA01065662;ABBA01065663;ABBA01065664;ABBA01065665;AC002992;NG_000880 1680248;1682069;2106953 ARSE_7749;RH66804;RH75499 ARSEP APPROVED pseudo 720 INFERRED 1605805 ARSH arylsulfatase family, member H Sulfatases, such as ARSH, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] X X X p22.33 7204898 7231677 + 2934654 2961426 + 2924654 2951426 + 16174644 347527 Q5FYA8 ABBA01038637;ABBA01038638;ABBA01038639;ABBA01038640;ABBA01038641;ABBA01038642;AC112653;AMYH01022015;AY875940;CH471074;NM_001011719 AAI48493;AAI53086;AAW66668;EAW98721;NP_001011719;Q5FYA8 Hs.351533 1768888 DXS2503 sulfatase ASH;OTTHUMP00000215984;arylsulfatase H APPROVED protein-coding ENSG00000205667 32488 16509 300586 VALIDATED 737370 ARSB arylsulfatase B Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targetted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 q14.1 78108788 78318113 - 78073032 78282357 - 1599228;1580863;6480464;7240710 1550123 2303452;1718978;19084217;18406185;18299243;18285341;17643332;17458871;17324393;16435196;14974081;12477932;11802522;11668612;10738004;10036316;9582121;9032078;8889548;8723688;8651289;8541342;8125475;8116615;7687847;7628016;6767391;4215420;1968043;1930244;1390929;1301949;18486607;19306108;19346317;19668339;20379614;19913121;20628086;21378286;22079206;21182205;22550062;21996138;19322201;22428001;23023219 411 A8K4A0;E5RHC4;P15848 ABBA01062000;ABBA01062001;ABBA01062002;AC020937;AC025755;AC099485;AC114963;AI244301;AI457798;AI821478;AK026942;AK290865;AK314903;AL135624;AMYH01015434;AMYH01015435;AMYH01015436;AMYH01015437;AW236748;BC029051;BC036609;BM664932;BQ216635;BQ775217;BX350102;BX364854;BX369127;CH471084;J05225;M32373;NG_007089;NM_000046;NM_198709;S57777;X72735 AAA51779;AAA51784;AAB19988;AAH29051;BAF83554;BAG37417;CAA51272;EAW95821;EAW95822;EAW95823;NP_000037;NP_942002;P15848 Hs.149103;Hs.604199 1646104;1647740;1659571;1729309;1741283;1749559;1753019;1761579;1777765;1847559;2128471;2219008;5020740;5024413 ARSB_4330;D5S1447;G64197;GDB:180337;L17809;L17877;RH16224;SHGC-111259;SHGC-12391;SHGC-145581;SHGC-34810;SHGC-36383;SHGC-77871;STS-M32373 ASB;G4S;MPS6 N-acetylgalactosamine-4-sulfatase;OTTHUMP00000135268;OTTHUMP00000222674;arylsulfatase B APPROVED protein-coding ENSG00000113273 714 08358 253200;611542 REVIEWED 1353523 ARSD arylsulfatase D The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to the lysosome. This gene is located within a cluster of similar arylsulfatase genes on chromosome X. A related pseudogene has been identified in the pseudoautosomal region of chromosome Y. [provided by RefSeq, Jul 2011] X X X p22.3 7102252 7127631 - 2832011 2857392 - 2822011 2847416 - 1580863;6480464 7720070;14702039;12477932;11177574;11027669;8845834;16344560;14699613;9192838;9246409;22820137 414 H0YMY1;H7C327;P51689 ABBA01012567;ABBA01038623;ABBA01038624;ABBA01038625;ABBA01038626;ABBA01038627;AC005295;AF160499;AI289224;AK021472;AK055239;AK314479;AMYH01022015;BC020229;BC080179;CH471074;DA869167;NG_012495;NM_001669;X83572 AAF22253;CAA58555;EAW98713;EAW98714;EAW98715;EAW98716;NP_001660;P51689 Hs.528631 1665570;1678571;1728899;2118395;2159978;5016781;5117672;5117897 G42687;GDB:595531;GDB:631813;RH1702;RH36003;RH38684;RH66803;SHGC-67307 ASD ASD;OTTHUMP00000022848;OTTHUMP00000022849;arylsulfatase D APPROVED protein-coding ENSG00000006756 717 02048 300002 REVIEWED 1321256 ARSA arylsulfatase A The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010] 22 22 q13.33 49410315 49413473 - 51061182 51066601 - 1358434;1599223;1358435;1580863;6480464;6907045;7240710 15026521;7901316;15375602 14702039;12888274;12788103;12477932;12473917;12459318;12081727;11941485;11857580;11777924;11456299;11333871;11124905;11061266;10591208;10493829;10359658;10220151;9888390;9744473;9668161;9600244;9521684;9490297;9090526;8723680;8104633;8101083;8101038;8095918;7981715;7909527;7906588;7902317;7866401;7860068;7858169;7833949;7825603;7815433;7628016;7581401;2562955;18029348;19262745;19224915;19054018;19021637;18768108;18693274;18248830;17845130;17660863;17560502;17329011;16782379;16678723;16344560;16341674;16311251;16140556;16110195;15772092;15710861;15489334;15461802;15342556;15188402;15146197;7192199;2574462;1975241;1684088;1678251;1676699;1674719;1673291;1670590;1357970;1353340;1352993;1352356;36611;21265945;21454621;14571263;15962010;19606494;8889548;20301309;21167507;21648305;23247813;21695197;21988832;23209833;18624398;21966540 410 B4DVI5;P15289 AB448736;ABBA01042619;ABBA01042620;AK092752;AK098659;AK301098;AK315011;AMYH01012918;AY271820;BC014210;BI770997;BM818814;BP306351;BQ184813;BU632196;BX648618;CA423492;CH471138;CN409235;CR456383;DA844740;DB028013;NG_009260;NM_000487;NM_001085425;NM_001085426;NM_001085427;NM_001085428;U62317;X52150;X52151 AAB03341;AAH14210;AAP03431;ABM83843;ABM87165;ACE87001;ACE87690;BAG37503;BAG62697;BAH11167;CAA36398;CAA36399;CAG30269;CAH56144;CAK54372;CAK54671;EAW73582;EAW73583;NP_000478;NP_001078894;NP_001078895;NP_001078896;NP_001078897;P15289 Hs.731715;Hs.88251 1679105;1744247;1744541;1792992;5016596;5117899 GDB:438542;GDB:512802;GDB:631802;GDB:631842;PMC18051P1;RH27787 MLD ASA;OTTHUMP00000196544;OTTHUMP00000196545;OTTHUMP00000196546;OTTHUMP00000196547;OTTHUMP00000196548;arylsulfatase A;cerebroside-sulfatase APPROVED protein-coding 713 09617 250100;607574 REVIEWED 1312633 ARSE arylsulfatase E (chondrodysplasia punctata 1) Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. [provided by RefSeq, Jul 2008] X X p22.3 2862673 2892494 - 2852673 2882494 - 1580863;1599238;6480464;7240710 9409863 9192838;7720070;18348268;12567415;11177574;9497243;8845834;8125298;16169070;12477932;20301713;21998595;22021425 415 C9J5G7;F5GYY5;F5H324;P51690 ABBA01038628;ABBA01038629;ABBA01038630;ABBA01038631;AC005295;AK223183;AK223199;AK293648;AK301004;AK313093;AMYH01022015;AW779826;BC130438;CH471074;NG_007091;NM_000047;X83573 AAI30439;ADR83078;BAD96903;BAD96919;BAG35917;BAH11556;BAH13390;CAA58556;EAW98717;EAW98718;EAW98719;EAW98720;NP_000038;P51690 Hs.386975 1680248;1682069;1728901;2106953;5016532 ARSE_7749;G42688;GDB:595763;RH66804;RH75499 ASE;CDPX;CDPX1;CDPXR;MGC163310 ASE;OTTHUMP00000022851;arylsulfatase E;chondrodysplasia punctata 1 APPROVED protein-coding ENSG00000157399 719 02171 300180;302950 REVIEWED 1344739 ARSF arylsulfatase F This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on chromosome X, suggesting that they are derived from recent gene duplication events. Sulfatases are essential for the correct composition of bone and cartilage matrix. The activity of this protein, unlike that of arylsulfatase E, is not inhibited by warfarin. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jan 2011] X X X p22.3 7264010 7309722 + 2994853 3040747 + 2958275 3030770 + 1580863 9192838;18029348;15489334;12477932;9685421;9229115;7720070;15342556;16344560 416 P54793 ABBA01038644;ABBA01038645;ABBA01038646;ABBA01038647;ABBA01038648;ABBA01038649;ABBA01038650;ABBA01038651;ABBA01038652;ABBA01038653;ABBA01038654;ABBA01038655;AC112653;AMYH01022016;BC022389;BP274206;BP277542;BQ228278;BX107362;CH471074;DA156994;DA628671;NG_012822;NM_001201538;NM_001201539;NM_004042;X97868 AAH22389;CAA66462;EAW98722;NP_001188467;NP_001188468;NP_004033;P54793 Hs.101674 1743597;1779264;2153461 G30983;GDB:359851;SHGC-153192 ASF OTTHUMP00000022857;OTTHUMP00000022858;arylsulfatase F APPROVED protein-coding ENSG00000062096 721 02049 300003 REVIEWED 1602225 ARSG arylsulfatase G The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012] 17 17 17 q24.2 62826927 62988567 + 63815191 63928595 + 66255323 66417000 + 6480464 10231032;12461688;16174644;18283100;15489334;12975309;12477932;19960030;20379614 22901 J3KS49;J9JIG6;Q96EG1 AB023218;ABBA01028960;ABBA01028961;ABBA01028962;ABBA01028963;ABBA01028964;AC005332;AC007780;AK311327;AMYH01008588;AMYH01008589;AY358380;BC012375;BG700864;CH471099;NG_032814;NM_001267727;NM_014960 AAH12375;AAQ88746;BAA76845;EAW89055;EAW89056;NP_001254656;NP_055775;Q96EG1 Hs.437249 1669646;1675738;1697228;1729853;1796786;1847881;2173350 D17S694;G19285;RH102108;RH80612;SLC16A6_835;STS-N33189;STS-N51941 KIAA1001 ASG;arylsulfatase G APPROVED protein-coding 24102 13826 610008 REVIEWED 1350034 ART2P ADP-ribosyltransferase 2 (RT6 antigen homolog, rat), pseudogene 11 11 11 q13 69533947 69534636 + 71909643 71910332 + 72231995 72232684 + 6480464 8812442;8005606;7966280;20210993 418 ABBA01017537;AMYH01003794;AP003785;AP005019;NG_001076;X65050 ART1P;RT6 APPROVED pseudo 724 INFERRED 1604953 ARSI arylsulfatase family, member I Sulfatases (EC 3.1.5.6), such as ARSI, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] 5 5 5 q32 145757304 145763920 - 149656970 149662129 - 149675909 149682525 - 6480464 16174644;19262745;16500042;16344560;15146197;14702039;12477932 340075 D6RDH0;Q5FYB1 AB448735;ABBA01026281;ABBA01026282;AC011372;AK122641;AMYH01015706;AY875937;BC111002;BC129995;BC129996;CH471062;CN369733;CQ866756;DA264664;DA759270;NM_001012301 AAI29996;AAI29997;AAW66665;BAG53634;BAH11166;CAH25968;EAW61740;NP_001012301;Q5FYB1 Hs.591252 1652046 RH45058 FLJ16069 ASI;OTTHUMP00000224046;arylsulfatase I APPROVED protein-coding ENSG00000183876 32521 16510 610009 VALIDATED 1606445 ARSK arylsulfatase family, member K Sulfatases (EC 3.1.5.6), such as ARSK, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] 5 5 5 q15 90769262 90819241 + 94916581 94966562 + 94890825 94940806 + 6480464 16500042;16174644;15489334;12975309;12477932 153642 D6R9F9;D6RBR4;E9PGI0;H0Y9F6;Q6UWY0 ABBA01069250;ABBA01069251;AC008547;AC090071;AK303855;AK316253;AL832711;AMYH01015490;AY358596;AY875939;BC036047;BC050392;BC130329;BC144160;BC144161;CH471084;CQ866752;NM_198150 AAH36047;AAH50392;AAI30330;AAQ88959;AAW66667;ADR83046;BAG64796;BAH14624;CAD38634;CAH25966;EAW96039;EAW96040;NP_937793;Q6UWY0 Hs.585051 5037552 D8S2279 DKFZp313G1735;TSULF ASK;OTTHUMP00000149978;OTTHUMP00000222479;arylsulfatase K;telethon sulfatase APPROVED protein-coding ENSG00000164291 25239 13183 610011 VALIDATED 1606235 ARSJ arylsulfatase family, member J Sulfatases (EC 3.1.5.6), such as ARSJ, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] 4 4 4 q26 112113187 112192557 - 115040889 115120327 - 114821440 114900878 - 6480464 16174644;16500042;16344560;15489334;12975309;12477932;20332099 79642 D6RGC1;Q5FYB0 ABBA01063835;AC104779;AI087279;AK027201;AK307532;AM049401;AMYH01014474;AY358647;AY875938;BC032010;BC033156;BC089445;BC132879;BC132881;BC142701;BC144265;BC151213;BG661302;DA031262;DA884606;NM_024590 AAH32010;AAH89445;AAI32880;AAI32882;AAI44266;AAQ89010;AAW66666;BAB15689;CAJ18095;NP_078866;Q5FYB0 Hs.22895;Hs.700496;Hs.712042 1701622;1771442;1858022;2145762;2146865;2153241 D4S1343;RH104453;SHGC-51089;STS-W81455;WI-11180;WI-21570 FLJ23548 ASJ;OTTHUMP00000219665;arylsulfatase J APPROVED protein-coding ENSG00000180801 26286 08034 610010 VALIDATED 1312119 ART1 ADP-ribosyltransferase 1 ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile enterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins. This gene was previously designated ART2. [provided by RefSeq, Jul 2008] 11 11 11 p15 3670682 3690726 + 3622937 3642222 + 3666361 3685646 + 1580863;6480464 7947688;9119374;17614107;16627471;12477932;11498506;10092875;8812442 417 P52961 ABBA01032051;ABBA01032052;ABBA01032053;AC060812;AJ291430;AMYH01003347;BC017828;BC069102;BC069828;BC111729;CH471158;NM_004314;S74683 AAB32387;AAH69102;AAI11730;CAC69964;EAX02558;EAX02559;NP_004305;P52961 Hs.382188 5021872;5037552 D8S2279;sY3084 ART2;ARTC1;CD296;MGC133217;RT6 ADP-ribosyltransferase 2;ADP-ribosyltransferase C2 and C3 toxin-like 1;GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1;OTTHUMP00000013621;mono(ADP-ribosyl)transferase 1 APPROVED protein-coding ENSG00000129744 723 03377 601625 REVIEWED 1353866 ARVD1 arrhythmogenic right ventricular dysplasia 1 1578811 7951245 422 729 1353946 ARVD2 arrhythmogenic right ventricular dysplasia 2 1578810;7240710 8589694 423 730 600996;604772 1349140 ARVD3 arrhythmogenic right ventricular dysplasia 3 1578812;7240710 9344647 8824801 424 1337405 D14S252 731 1345748 ARVD4 arrhythmogenic right ventricular dysplasia 4 1578812;7240710 9344647 425 1298284;1338915;1341679;7187779 D2S103;D2S151;D2S389 732 1315084 ART4 ADP-ribosyltransferase 4 (Dombrock blood group) This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008] 12 12 p13-p12 14873512 14887680 - 14982245 14996413 - 1580863;6480464 15847654;15489334;12519438;12477932;12070318;12028057;11896313;11520417;10971215;8882867;6034522;9119374;11001920;18510579;16140404;20932078;16040347;20431033;19413734;21832049;23421541 420 H7C2G2;Q3KZ29;Q3KZ30;Q93070 ABBA01067886;AC007655;AF290204;AF340233;AF340234;AF382212;AF382213;AF382215;AF382216;AF382218;AF382219;AF382222;AF382225;AK291662;AMYH01004303;AMYH01004304;AY690666;AY829431;AY829432;AY829433;AY829434;AY829435;AY829436;AY829437;AY899803;BC074727;BX096478;CH471094;CR746266;DQ072851;NG_007477;NM_021071;X95826 AAG17845;AAH74727;AAK11274;AAK11275;AAM21462;AAM21464;AAM21465;AAM21466;AAM21467;AAW02794;AAW65375;AAX39378;AAX39379;AAX39380;AAX39381;AAX39382;AAX39383;AAX39384;BAF84351;CAA65095;EAW96332;NP_066549;Q93070 Hs.591158;Hs.655792;Hs.668803 1853112;1854419;5094026 A010B03;G33063;G41311 ARTC4;CD297;DO;DOK1 ADP-ribosyltransferase 4 (DO blood group);ADP-ribosyltransferase C2 and C3 toxin-like 4;Dombrock blood group carrier molecule;NAD(P)(+)--arginine ADP-ribosyltransferase 4;OTTHUMP00000239331;OTTHUMP00000239332;dombrock blood group;ecto-ADP-ribosyltransferase 4;mono(ADP-ribosyl)transferase 4;mono-ADP-ribosyltransferase 4 APPROVED protein-coding 726 04364 110600 REVIEWED 1344380 ARX aristaless related homeobox This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Mutations in this gene cause X-linked mental retardation and epilepsy. [provided by RefSeq, Jul 2008] X X p21.3 24932213 24943775 - 25021811 25034065 - 1599257;1599258;1598407;1580863;6480464;7240710 11971879;16772326 21108397;19085879;18975239;18923043;18468866;17668384;17664401;17641262;17613295;17490853;17480217;17082467;17044103;16988001;16845484;16523516;15850492;15726411;15707237;15533998;15199382;14722918;12874418;12874405;12736870;12379852;12376949;12376946;12359145;12177367;12142061;11889467;10920247;10398246;10398243;9001795;8826464;8826462;8826457;3177452;1605216;20506206;20384723;19587282;19605412;19734009;19738637;20538404;21204215;21204226;22922607;22387004;21426321;21482751;21496008;22490986;22252899;22565167;22194193;23072184;22642246 170302 Q96QS3 AA484051;ABBA01016868;ABBA01072376;ABBA01072377;ABBA01072378;ABBA01072379;AC002504;AMYH01022167;AMYH01022168;AY038071;BF196892;BQ100952;BQ269551;CA775911;CH471074;NG_008281;NM_139058 AAK93901;EAW99031;EAW99032;NP_620689;Q96QS3 Hs.300304 1338887;1339686;1701896;1788750;1850033;5491890;7185693 Arx;DXS1202;DXS1218;DXS1432;DXS989;RH128932;RH18271 CT121;EIEE1;ISSX;MRX29;MRX32;MRX33;MRX36;MRX38;MRX43;MRX54;MRX76;MRX87;MRXS1;PRTS OTTHUMP00000023088;aristaless-related homeobox, X-linked;cancer/testis antigen 121;homeobox protein ARX APPROVED protein-coding ENSG00000004848 18060 02307 300004;300215;300382;300419;308350;309510 REVIEWED 1342748 AS ankylosing spondylitis 426 734 1320437 ART3 ADP-ribosyltransferase 3 This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 4 4 q21.1 77214887 77252965 + 76932333 77033955 + 1580863;6480464 9119374;18266473;16934346;16625277;15489334;12477932;12070318;11879200;10460751;8605984;8125298;16040347;18029348;20237496;20379614;19913121;20628086;21988832 419 E7ER42;E7ESB3;E7EX61;E9PGR5;Q13508;Q5J1K9 ABBA01063355;AC112719;AK129914;AK225860;AK295305;AK308810;AMYH01014310;AY543655;AY543656;AY543657;AY543658;AY543659;AY543660;AY550336;AY550337;AY550338;AY550339;AY550340;AY550341;AY550342;AY550343;AY550344;AY550345;AY550346;BC008397;BC017913;BT007249;CH471057;CR541664;DB451386;NM_001130016;NM_001130017;NM_001179;U47054;X95827 AAB01894;AAH08397;AAH17913;AAP35913;AAT10277;AAT10278;AAT10279;AAT10280;AAT10281;AAT10282;AAT45030;AAT45031;AAT45032;AAT45033;AAT45034;AAT45035;AAT45036;AAT45037;AAT45038;AAT45039;AAT45040;ABM84209;ABM87613;BAG58285;CAA65096;CAG46465;EAX05765;EAX05766;EAX05768;EAX05769;EAX05770;EAX05771;NP_001123488;NP_001123489;NP_001170;Q13508 Hs.24976;Hs.731997 1645663;1645677;1650993;1656469;1763603;1772226;1797452;2108699;2137415;2155208;2163758;2164120;2166361;2174400;5022578 ART3_8212;CXCL10__1179;D1S1423;D4S2674;D4S3268;D4S478;G33388;G33799;G34355;SHGC-147296;SHGC-50663;SHGC-59623;SHGC4-1008;SHGC4-1683;STS-X02530 ARTC3;FLJ26404 ADP-ribosyltransferase C2 and C3 toxin-like 3;NAD(P)(+)--arginine ADP-ribosyltransferase 3;OTTHUMP00000160603;OTTHUMP00000160604;OTTHUMP00000219067;OTTHUMP00000219069;OTTHUMP00000219070;OTTHUMP00000222097;ecto-ADP-ribosyltransferase 3;mono(ADP-ribosyl)transferase 3;mono-ADP-ribosyltransferase APPROVED protein-coding ENSG00000156219 725 04363 603086 VALIDATED 1347630 ARTN artemin The protein encoded by this gene is a member of the glial cell line-derived neurotophic factor (GDNF) family of ligands which are a group of ligands within the TGF-beta superfamily of signaling molecules. GDNFs are unique in having neurotrophic properties and have potential use for gene therapy in neurodegenerative disease. Artemin has been shown in culture to support the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. Its role in the PNS and CNS is further substantiated by its expression pattern in the proximity of these neurons. This protein is a ligand for the RET receptor and uses GFR-alpha 3 as a coreceptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 1 1 p33-p32 44171579 44175471 + 44398992 44402912 + 2325817;2325819;2325821;2325815;6480464 19304517;20302919;18344995;20395845 9883723;19363524;18970938;18313696;16765900;16734417;16710414;15829225;15489334;12477932;10673327;10583383;9448325;20305694;20530713;20118197;22901124;21453483;23095743;21907286;22008109;22060274;23185544;23351331;22770266 9048 E9PIK2;E9PLG3;E9PN22;Q5T4W7 ABBA01050938;AF109401;AF115765;AF120274;AJ245628;AL357079;AMYH01000562;AMYH01000563;BC062375;CH471059;NM_001136215;NM_057090;NM_057091 AAC98690;AAD13109;AAD13110;AAD21075;AAH62375;CAB52396;EAX07074;EAX07075;EAX07076;EAX07077;EAX07078;EAX07079;EAX07080;EAX07081;NP_001129687;NP_476431;NP_476432;Q5T4W7 Hs.632404 ENOVIN;EVN;NBN OTTHUMP00000009173;OTTHUMP00000231148;OTTHUMP00000231149;OTTHUMP00000231150;OTTHUMP00000231151;OTTHUMP00000231154;artemin;neublastin;neurotrophic factor APPROVED protein-coding ENSG00000117407 727 04863 603886 REVIEWED 1347628 ART5 ADP-ribosyltransferase 5 The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Transcript variants with different 5' UTRs, but encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 3664036 3667844 - 3616312 3620122 - 3659736 3663546 - 634606;1580863;6480464 11587854 15489334;12975309;12477932;12070318;10448534;17207965 116969 H7C1W0;H7C3U2;Q96L15 ABBA01032053;AC060812;AK313531;AMYH01003347;AW241897;AY358466;BC014577;BI825352;CD557970;CH471158;NM_001079536;NM_053017;Y16835 AAH14577;AAQ88831;ADQ31665;CAC79987;EAX02555;EAX02556;EAX02557;NP_001073004;NP_443750;Q96L15 Hs.125680 ARTC5;MGC22848 ADP-ribosyltransferase C2 and C3 toxin-like 5;NAD(P)(+)--arginine ADP-ribosyltransferase 5;OTTHUMP00000013618;OTTHUMP00000013619;ecto-ADP-ribosyltransferase 5;mono(ADP-ribosyl)transferase 5 APPROVED protein-coding ENSG00000167311 24049 12493 610625 REVIEWED 1347222 ASAH2B N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B 10 10 q11.23 52169714 52184575 + 52499708 52514569 + 17334805;15146197;21906983 653308 B7Z261;P0C7U1 ABBA01052484;ABBA01052485;ABBA01052486;ABBA01052487;ABBA01052488;ABBA01052489;AL589794;AMYH01002734;AMYH01002735;AMYH01002736;BG773189;DC329838;NM_001079516 NP_001072984;P0C7U1 Hs.710005 1340515;1689376 D5S2115;RH80093 ASAH2C;ASAH2L;bA449O16.3 ASAH2-like protein;OTTHUMP00000019609;OTTHUMP00000019610;putative inactive N-acylsphingosine amidohydrolase 2B;putative inactive neutral ceramidase B;putative inactive non-lysosomal ceramidase B protein-coding ENSG00000204147 23456 610987 PROVISIONAL 1344716 ASAH2C N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2C 10 10 10 q11.22 75110241 75151685 - 47521637 47575024 - 48001709 48050538 - 16229686;16061940;15946935;15845354;15489334;15164054;14557071;10781606;21906983 653365 P0C7U2 ABBA01052476;ABBA01052477;AL954360;AMYH01002467;AMYH01002468;AMYH01002469;AMYH01002470;AMYH01002471;AMYH01002472;NG_012763 CAI17190;P0C7U2 1335475;1721105;2161972;7185095 D10S1447;D10S225;G59537 bA98I6.3 pseudo 23457 INFERRED 1349198 ARV1 ARV1 homolog (S. cerevisiae) 1 1 1 q42.2 204380771 204402432 + 229181446 229203102 + 231114823 231136479 + 1580863;6480464 16710414;15489334;14702039;12477932;12145310;11063737;17207965;20663892;16196087;21890473 64801 F6QB42;H0YEB4;H7C0E7;H7C484;Q9H5V6 ABBA01033032;AF271780;AF290878;AF321442;AK026629;AK293049;AL122047;AL732414;AL844165;AMYH01001816;BC016309;CH471098;NM_022786 AAG44791;AAG47671;AAH16309;AAK11180;ADQ31700;BAB15513;BAF85738;CAB59183;EAW69934;EAW69935;EAW69936;EAW69937;EAW69938;EAW69939;EAW69940;EAW69941;NP_073623;Q9H2C2 Hs.275736 1670917 A007E06 OTTHUMP00000035970;OTTHUMP00000036063;OTTHUMP00000036064;OTTHUMP00000036065;OTTHUMP00000036067;hARV1;protein ARV1 protein-coding ENSG00000173409 29561 12494 611647 VALIDATED 1315392 ARVCF armadillo repeat gene deleted in velocardiofacial syndrome Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010] 22 22 q11.21 18337419 18384309 - 19957402 20004309 - 1578806;1580863;6480464 9126485 18600340;18198266;16118784;15509897;15456900;15345747;15340358;14702039;12477932;11821434;11058098;10725230;22087225;22889411;9721216;9192844;7677167;19508883;19617637;19692168;19706687;19724895;19851296;20198315;20333729;20379614;8889548;20634891;22318606;21139048;21906983;21846818;22053977;22139419 421 C9JJX6;E9PDC3;O00192 ABBA01005398;ABBA01005399;ABBA01005400;AC005663;AK092664;AMYH01012482;AMYH01012483;BC036893;BC137436;BM716184;CH471176;NG_023326;NM_001670;U51269 AAC51202;AAH36893;AAI37437;BAC03941;EAX03007;EAX03008;EAX03009;NP_001661;O00192 Hs.713616 1645894;1734280;1857183;2112420;2112426;2112432 D22S1603;D22S1605;D22S1607;D22S931;G18186;WI-22519 FLJ35345 OTTHUMP00000028704;OTTHUMP00000198346;OTTHUMP00000198347;OTTHUMP00000198348;armadillo repeat protein deleted in velo-cardio-facial syndrome APPROVED protein-coding ENSG00000099889 728 03778 602269 REVIEWED 1602895 ASAP1-IT1 ASAP1 intronic transcript 1 (non-protein coding) 8 8 8 q24.21 127487751 127488929 - 131376783 131377961 - 131307601 131308779 - 6480464 11042152 29065 ABBA01037979;AC009682;AF161539;AMYH01019027;NG_030354;NR_002765 Hs.639318 ASAP1-IT;ASAP1IT;ASAP1IT1;DDEF1IT1;HSPC054;NCRNA00050 APPROVED miscrna 24998 VALIDATED 1350697 AS3MT arsenic (+3 oxidation state) methyltransferase AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008] 10 10 q24.32 104619200 104651646 + 104629210 104661656 + 625365;1580863;6480464 11790780 8125298;19411561;19371612;19167370;19159958;19152805;18976679;18682255;18588996;18414634;18334919;17889916;17850829;17637926;17450230;17306849;16407288;16344560;15929903;15808521;12477932;20571777;20877624;16385451;19430483;19538983;19896490;19932709;20014157;20129672;20532380;20547570;20621156;20971157;21247820;22955273;22747749;21537954;22005461;23093101;23894747;22339537;21139048;22341486;22547080;23341986;21963094;23453885;22712827;23070617 57412 Q0VDK3;Q9HBK9 ABBA01063131;ABBA01063132;AF226730;AK057833;AK225972;AK309737;AL358790;AMYH01003020;AMYH01003021;AW139845;AY817668;BC119637;BC119638;CH471066;DA368970;NM_020682 AAG09731;AAI19638;AAI19639;AAI60057;AAV68045;EAW49668;EAW49669;NP_065733;Q9HBK9 Hs.720370 1670076;1774675;2179270;2191087;5014051;5015619;5016596;5024761;5037552;5491553 D11S3114;D16S779;D8S2278;D8S2279;GDB:631802;MARC_14453-14454:1010434240:1;MARC_17614-17615:1019141787:1;RH36905;RH44877;STS-N70305 CYT19;RP11-753C18.6 2310045H08Rik;OTTHUMP00000020384;S-adenosyl-L-methionine:arsenic(III) methyltransferase;S-adenosylmethionine:arsenic (III) methyltransferase;arsenite methyltransferase;methylarsonite methyltransferase;methyltransferase cyt19 APPROVED protein-coding ENSG00000214435 17452 16511 611806 VALIDATED 1605058 ASAH2 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008] 10 10 q11.21 51617078 51678319 - 51947000 52008370 - 6480464;6907045 10781606;17982236;17475390;17334805;16940153;16229686;16061940;15946935;15845354;15489334;15210766;15164054;14557071;12477932;11328816;10753931;8076819;16385451;20520628;20877624;21530485;21531200;21906983;23263486;23400010 56624 E9PBM9;Q9NR71 AF250847;AF449759;AL450382;AMYH01002724;AMYH01002725;AMYH01002726;AMYH01002727;AMYH01002728;AMYH01002729;AMYH01002730;AMYH01002731;AMYH01002732;AY049008;BC107105;BG289059;CH471142;NM_001143974;NM_019893 AAF86240;AAI07106;AAL06061;AAQ04667;EAW80435;EAW80436;NP_001137446;NP_063946;Q9NR71 Hs.512645 1335475;1721105;2161972;7185095 D10S1447;D10S225;G59537 BCDase;HNAC1;LCDase;MGC129777;N-CDase;NCDase LCDase;N-CDase;N-acylsphingosine amidohydrolase 2;OTTHUMP00000019606;OTTHUMP00000211204;acylsphingosine deacylase 2;hCD;mitochondrial ceramidase;neutral ceramidase;neutral/alkaline ceramidase;non-lysosomal ceramidase APPROVED protein-coding ENSG00000188611 18860 611202 VALIDATED 734135 ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 8 8 p22 17958214 17986787 - 17913925 17942507 - 734977;1580863;6480464;6484113;6907045;7240710 11241842 8955159;18477771;18245333;17881906;17713573;16806233;16500425;16344560;16335952;16263699;15489334;15210766;15088070;14702039;12815059;12764132;12754519;12638942;12477932;11451951;10974027;10959093;10610716;9838138;8889549;8125298;7744740;16169070;21335555;19298866;19905902;20379614;21493710;20520628;19913121;20628086;20871013;21552555;22927646;22268729;20360068;21504271;21846728;21988832;21375364;22703880;21700700;21139048;21890473;22079093;22261821;21893389;22515519;22322590 427 A8K0B6;E7EMM4;E7ERV9;Q13510;Q53H01 ABBA01021575;AC124242;AF220175;AK025211;AK025732;AK098299;AK222780;AK289481;AMYH01018549;AMYH01018550;AY305384;BC016481;BC016828;BC035453;BG714023;BU633536;CB216602;CH471080;DA260852;DA306573;DB561177;H78830;NG_008985;NM_001127505;NM_004315;NM_177924;U47674;U70063 AAC50907;AAC73009;AAF91230;AAH16481;AAH16828;AAQ75550;ABM81997;ABM85180;BAB15085;BAD96500;BAF82170;BAG53608;EAW63791;EAW63792;EAW63793;EAW63794;EAW63795;NP_001120977;NP_004306;NP_808592;Q13510 Hs.527412;Hs.633993 1682043;1735724;1786810;1850492;2120177;2136031;2145172 D8S1341E;D8S1586;D8S2080;D8S2114;RH11700;RH94375;SHGC-170029 AC;ACDase;ASAH;FLJ21558;FLJ22079;PHP;PHP32;SMAPME OTTHUMP00000122481;OTTHUMP00000122482;OTTHUMP00000224670;OTTHUMP00000224838;acid CDase;acid ceramidase;acylsphingosine deacylase;n-acylsphingosine amidohydrolase (acid ceramidase);putative 32 kDa heart protein APPROVED protein-coding ENSG00000104763 735 01969 159950;228000;613468 REVIEWED 1354069 ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 8 8 q24.1-q24.2 131133535 131483399 - 131064350 131455906 - 1580863;6480464;6484113;6907045 12029088;17474147;19017632;18685082;18519696;18400762;16636290;16421571;16038802;15897555;14702039;12522101;12477932;12149250;12058076;11773070;10574462;9819391;15719014;12672817;15090612;17893324;19531213;21352810;12771146;16223492;17255943;19041431;19525955;20154719;20936779;16344560;18094045;21858086;21139048;19322201;22734003;19380743;20697350 50807 E5RFD9;E5RHA9;E5RHD7;H0YBF7;H0YBM4;H0YBY9;Q9ULH1 AB033075;ABBA01037977;ABBA01037978;ABBA01037979;ABBA01037980;ABBA01037981;ABBA01037982;AC009682;AC103725;AC131568;AC139019;AF222859;AI494058;AI656533;AK056811;AK314695;AMYH01019026;AMYH01019027;AMYH01019028;AMYH01019029;AP005856;AP006178;AP006181;AW236866;AW236958;BC020631;BC070268;BC105978;BC137135;BC144493;BX537768;CH471060;DA319233;HI574070;NG_030354;NM_001247996;NM_018482 AAF67666;AAH20631;AAI37136;BAA86563;CAD97831;CBX47524;EAW92130;EAW92131;NP_001234925;NP_060952;Q9ULH1 Hs.655552 1662904;1698994;1713855;1735838;1749823;1757151;1757563;1856191;2117668;2124278;2131167;2136015;2137065;2144413;2150744;2163256;2186333;2218464 D8S1435E;D8S1921;D8S1945;D8S344;DDEF1_4682;G17258;RH103067;RH119359;RH16451;RH69822;SGC38391;SHGC-111562;SHGC-144582;SHGC-145025;SHGC-34037;SHGC-58182;STS-N34678;WI-3886 AMAP1;CENTB4;DDEF1;KIAA1249;PAG2;PAP;ZG14P 130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein;130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein;ADP-ribosylation factor-directed GTPase-activating protein 1;ARF GTPase-activating protein 1;DEF-1;OTTHUMP00000227438;OTTHUMP00000227440;PIP2-dependent ARF1 GAP;arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1;centaurin, beta 4;development and differentiation enhancing factor 1;development and differentiation-enhancing factor 1;differentiation-enhancing factor 1 APPROVED protein-coding ENSG00000153317 2720 05809 605953 REVIEWED 1313189 ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 2 2 2 p25 9258815 9457991 + 9264345 9463257 + 9346894 9545812 + 1580863;6480464;6907045 11716503;19010793;17081983;15719014;15489334;15483625;15231847;14702039;12477932;12149250;11304556;10749932;10022920;9819391;9455477;17353931;18685082;20936779;20944657;17474147;22178446;19322201;21110914;12421765;18654987;17255943 8853 O43150;Q8N282 AA918883;AB007860;ABBA01015577;ABBA01015578;ABBA01015579;ABBA01015580;ABBA01015581;ABBA01015582;ABBA01015583;ABBA01015584;AC079782;AC080162;AC093904;AK091121;AK124900;AMYH01010093;BC063308;CH471053;NM_001135191;NM_003887 AAH63308;AAY14856;AAY14904;AAY24112;BAA23696;BAC03588;EAX01002;EAX01003;EAX01004;EAX01005;EAX01006;NP_001128663;NP_003878;O43150 Hs.555902 1694580;1706884;1764841;2109219;2136828;2165085;2172111 D2S1665E;DDEF2_4683;G43274;RH12299;RH16639;SHGC-148404;SHGC-80929 AMAP2;CENTB3;DDEF2;FLJ42910;KIAA0400;PAG3;PAP;Pap-alpha;SHAG1 OTTHUMP00000145855;PYK2 C terminus-associated protein;arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2;centaurin, beta 3;development and differentiation enhancing factor 2;development and differentiation-enhancing factor 2;paxillin-associated protein with ARF GAP activity 3;pyk2 C-terminus-associated protein APPROVED protein-coding ENSG00000151693 2721 04820 603817 REVIEWED 1346642 ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] 1 1 1 p36.12 22084761 22140449 - 23627643 23683258 - 23755056 23810750 - 1580863;6480464;6907045 18400762;16737952;16710414;15489334;14702039;14654939;12477932;18685082;20510928;22027826;19380743 55616 E9PS98;H0YE36;H0YEB0;H0YER8;Q8TDY4 AB056749;ABBA01059872;ABBA01059873;ABBA01059874;AK000206;AK000253;AK074319;AK092291;AK295100;AK299359;AL021154;AL357134;AMYH01000359;BC023519;BC052305;BC060786;CH471134;NM_001143778;NM_017707 AAH23519;AAH52305;AAH60786;BAA91008;BAA91033;BAB85677;BAG52522;BAG58136;BAG61354;EAW95050;EAW95051;EAW95052;EAW95053;NP_001137250;NP_060177;Q8TDY4 Hs.437379 1644317;1697132;1732998;1777876;1850009;2139641 Cda0dc08;D1S1370;D1S3162;RH102051;RH18164;SHGC-74378 ACAP4;CENTB6;DDEFL1;FLJ20199;UPLC1 ARF6 GTPase-activating protein;ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 1;OTTHUMP00000003268;OTTHUMP00000003269;OTTHUMP00000235356;arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3;centaurin, beta 6;development and differentiation enhancing factor-like 1;development and differentiation-enhancing factor-like 1;protein up-regulated in liver cancer 1;up-regulated in liver cancer 1 (UPLC1) APPROVED protein-coding ENSG00000088280 14987 11662 REVIEWED 1321850 ASB1 ankyrin repeat and SOCS box containing 1 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008] 2 2 2 q37 233048109 233073377 + 239000365 239025630 + 239335626 239360891 + 1580863;6480464 11111040;18029348;15489334;21145461;18187417;19159283;12477932;12076535;11509662;10574461;9110174;8619474;20237496;16751776;16325183;21946350 51665 B9A047;F8WBM8;Q9Y576 AB032972;ABBA01042606;AC016999;AF055024;AF156777;AMYH01011606;BC014528;CH471063;NM_001040445 AAD41894;AAH14528;AAX88934;ADZ15870;BAA86460;EAW71158;EAW71159;NP_001035535;Q9Y576 Hs.516788 2106441;2126215;2162569;2183832 ASB1_3826;RH35763;SGC30171;WI-20724 ASB-1;KIAA1146;MGC11165 OTTHUMP00000202577;OTTHUMP00000202578;ankyrin repeat and SOCS box protein 1;ankyrin repeat and SOCS box-containing 1 APPROVED protein-coding ENSG00000065802 16011 05767 605758 REVIEWED 1344351 ASB11 ankyrin repeat and SOCS box containing 11 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] X X X p22.31 19417215 19449322 - 15211548 15243648 - 15299819 15333746 - 1580863;6480464 18029348;16893969;15489334;12477932;12076535 140456 F8WF31;Q7Z670;Q8WXH4 ABBA01071284;ABBA01071285;ABBA01071286;ABBA01071287;ABBA01071288;ABBA01071289;AC095351;AF425642;AMYH01022105;BC069340;BC103873;BC103874;BC103875;BX537853;BX537857;CH471074;NG_012627;NM_001012428;NM_001201583;NM_080873 AAH69340;AAI03875;AAI03876;AAL60519;CAD97861;CAD97864;EAW98877;EAW98878;NP_001012428;NP_001188512;NP_543149;Q8WXH4 Hs.352183 1340271;5037552 D8S2279;DXS9902 DKFZp779E2460;MGC119168;MGC119169 ASB-11;OTTHUMP00000022958;OTTHUMP00000215046;OTTHUMP00000215047;ankyrin repeat and SOCS box protein 11;ankyrin repeat and SOCS box-containing 11;ankyrin repeat and SOCS box-containing protein 11, isoform a;ankyrin repeat domain-containing SOCS box protein ASB11 APPROVED protein-coding ENSG00000165192 17186 06450 300626 REVIEWED 1353086 ASB10 ankyrin repeat and SOCS box containing 10 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008] 7 7 7 q36.1 145430126 145442260 - 150503718 150515411 - 150872785 150884919 - 1580863;6480464 22156576;16344560;16325183;15489334;14702039;12690205;12076535;12477932;23455924;21988832;22798626 136371 D5MNW9;F8WB38;J3KQJ5;Q8WXI3 AACC02000108;ABBA01035161;ABBA01035162;AC010973;AF417920;AK055536;AK125565;AK315114;AMYH01018144;BC126351;CH471173;DA898875;NG_017016;NM_001142459;NM_001142460;NM_080871 AAI26352;AAL59159;BAC86204;EAL24504;EAW54020;EAW54021;EAW54022;NP_001135931;NP_001135932;NP_543147;Q8WXI3 Hs.647081 GLC1F OTTHUMP00000211301;OTTHUMP00000211302;OTTHUMP00000211303;ankyrin repeat and SOCS box protein 10;ankyrin repeat and SOCS box-containing 10 APPROVED protein-coding ENSG00000146926 17185 603383;615054 REVIEWED 1343044 ASB14 ankyrin repeat and SOCS box containing 14 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008] 3 3 3 p21.1 57267953 57292330 - 57277419 57288020 - 57302379 57326710 - 1580863;6480464 16325183;12477932;12076535;10737800 142686 A6NK59 ABBA01024422;AC093928;AF403032;AL832472;AMYH01013220;BC114953;BE004392;CH471055;NM_001142733;NM_130387 A6NK59;AAI14954;AAL57351;EAW65337;EAW65338;NP_001136205;NP_569058 Hs.665154;Hs.745243 1650567;1675937;1735162 D3S2814E;RH99000;SHGC-77071 DKFZp313L0121 OTTHUMP00000213143;ankyrin repeat and SOCS box protein 14;ankyrin repeat and SOCS box-containing 14;ankyrin repeat domain-containing SOCS box protein Asb-14 APPROVED protein-coding ENSG00000239388 19766 10668 REVIEWED 1602398 ASB18 ankyrin repeat and SOCS box containing 18 2 2 2 q37.2 230816647 230886004 - 236768254 236837727 - 237103515 237172988 - 6480464 16325183;12076535;20339536 401036 C9JFL4;H7C3E8;Q6ZVZ8 ABBA01042571;ABBA01042572;AC019068;AC079135;AK123854;AMYH01011594;AMYH01011595;AMYH01011596;BX647589;NM_212556 AAI72346;BAC85710;NP_997721;Q6ZVZ8 Hs.639909 1659351;1784166;5015619;5037552 D11S3114;D2S1972;D8S2279;SHGC-155069 ASB-18;DKFZp313I1130 OTTHUMP00000203076;ankyrin repeat and SOCS box protein 18;ankyrin repeat and SOCS box-containing 18 APPROVED protein-coding ENSG00000182177 19770 16514 PROVISIONAL 1321264 ASB13 ankyrin repeat and SOCS box containing 13 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010] 10 10 10 p15.1 5611177 5638957 - 5720837 5748547 - 5680820 5708558 - 1580863;6480464 21145461;16169070;16325183;16189514;15489334;15342556;15164054;14702039;12477932;12076535;20677014;21900206 79754 Q8WXK3 ABBA01034772;ABBA01034773;ABBA01034774;ABBA01034775;AF403031;AI377400;AK023196;AK091935;AK292071;AL365356;AMYH01002002;BC012056;BG436652;BP249999;CH471072;CR457302;NM_024701;NR_024581;NR_037164 AAH12056;AAL57350;BAB14456;BAF84760;CAG33583;EAW86435;EAW86436;EAW86437;EAW86438;EAW86439;NP_078977;Q8WXK3 Hs.445899 1721953;1787546;2157283 G59862;RH46010;SHGC-155672 FLJ13134;MGC19879 OTTHUMP00000019006;ankyrin repeat and SOCS box protein 13;ankyrin repeat and SOCS box-containing 13;ankyrin repeat domain-containing SOCS box protein Asb-13 APPROVED protein-coding ENSG00000196372 19765 10667 615055 REVIEWED 1346506 ASB15 ankyrin repeat and SOCS box containing 15 7 7 7 q31.31 118052868 118081688 + 123036348 123065168 + 123249112 123277932 + 1580863;6480464 17672918;16325183;16012773;14702039;12477932;12076535 142685 C9J956;Q8WXK1 AACC02000001;ABBA01057731;AC006333;AF403033;AF428257;AK125360;AMYH01017903;AMYH01017904;BC100874;BC100875;BC100876;BC100877;CH236947;CH471070;CR749595;NM_080928 AAI00875;AAI00876;AAI00877;AAI00878;AAI66689;AAL57352;AAP97297;AAQ96857;BAC86146;CAH18393;EAW83594;EAW83595;EAW83596;NP_563616;Q8WXK1 Hs.83916 1678675 RH98583 DKFZp779M1258;FLJ43370 ASB-15;OTTHUMP00000211495;OTTHUMP00000211496;OTTHUMP00000211497;OTTHUMP00000211498;ankyrin repeat and SOCS box protein 15;ankyrin repeat and SOCS box-containing 15 APPROVED protein-coding ENSG00000146809 19767 10669 VALIDATED 1349928 ASB12 ankyrin repeat and SOCS box containing 12 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jan 2011] X X X q11.2 63790909 63792336 - 63360801 63362228 - 63444072 63450511 - 1580863;6480464 15772651;15489334;14702039;12477932;12076535;16344560;20211142;7566098;16325183 142689 Q8WXK4 AA349954;ABBA01066881;ABBA01066882;AF403030;AK096896;AK300684;AL356317;AMYH01022493;BC069436;BC069555;BC093883;BC104946;CH471132;DA560184;NG_012823;NM_130388 AAH69436;AAH69555;AAH93883;AAI04947;AAL57349;BAC04888;BAG62367;EAX05414;NP_569059;Q8WXK4 Hs.56281 1699460;1771385;5492429 RH103321;RH41896;UniSTS:480997 FLJ39577 OTTHUMP00000023429;ankyrin repeat and SOCS box protein 12;ankyrin repeat and SOCS box-containing 12;ankyrin repeat domain-containing SOCS box protein Asb-12 APPROVED protein-coding ENSG00000198881 19763 06451 300891 REVIEWED 1313384 ASB16 ankyrin repeat and SOCS box containing 16 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008] 17 17 17 q21.31 38956789 38965185 + 39603600 39611977 + 42248074 42256451 + 1580863;6480464 16325183;15489334;14702039;12477932;12076535;17474147;20379614 92591 K7ELE0;K7EM41;Q96NS5 ABBA01028384;ABBA01028385;AC004596;AF403034;AK054727;AK314595;AMYH01008410;AY557346;BC075088;BC118584;BC118585;CH471178;NM_080863 AAH75088;AAI18585;AAI18586;AAL57353;AAS67920;BAB70800;BAG37167;EAW51627;EAW51628;NP_543139;Q96NS5 Hs.534517 5022651;5492521 D11S2921;UniSTS:481453 FLJ30165;MGC141876;MGC141877 ankyrin repeat and SOCS box protein 16;ankyrin repeat and SOCS box-containing 16;ankyrin repeat and SOCS box-containing protein 16 APPROVED protein-coding ENSG00000161664 19768 10670 615056 REVIEWED 1603501 ASB16-AS1 ASB16 antisense RNA 1 17 17 17 q21.31 38962081 38972816 - 39608871 39619608 - 42253341 42264085 - 6480464 14702039;12477932;15862967;16712791;15146197;16344560 339201 Q495Z4 ABBA01028383;ABBA01028384;AC004596;AK055685;AL833953;AMYH01008410;AMYH01008411;AMYH01008412;BC009448;BC100964;BC100965;BC100966;BC100967;CB151608;CH471178;CN367999;DA567080;NR_049729;NR_049730 AAH09448;AAI00965;AAI00966;AAI00967;AAI00968;BAG51556;EAW51625;EAW51626;Q495Z4 Hs.656564 5118576;5492847 D11S3430;UniSTS:483028 C17orf65;DKFZp762C2414;MGC119234 hypothetical protein LOC339201;uncharacterized protein C17orf65 APPROVED miscrna ENSG00000267080 25442 13231 VALIDATED 1343895 ASB17 ankyrin repeat and SOCS box containing 17 1 1 1 p31.1 74624762 74638320 - 76157148 76170704 - 76384558 76398116 - 1580863;6480464 16325183;15489334;15204681;14702039;12477932;12076535;17207965 127247 Q4G1B1;Q8WXJ9 ABBA01074414;AC092813;AF403035;AF429968;AK098606;AL445464;AMYH01000716;BC022517;BC036573;CH471059;HC006782;HC044789;NM_080868;NR_026546 AAH22517;AAH36573;AAL57354;AAN85310;ADQ32483;BAC05350;CBH19197;CBH30724;EAX06391;NP_543144;Q8WXJ9 Hs.125423 2113684 AB071128 Asb-17 OTTHUMP00000011348;ankyrin repeat and SOCS box protein 17;ankyrin repeat and SOCS box-containing 17 APPROVED protein-coding ENSG00000154007 19769 10671 VALIDATED 1315012 ASB2 ankyrin repeat and SOCS box containing 2 This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 14 14 q31-q32 93470266 93493520 - 94400499 94443076 - 1580863;6480464 18029348;16325183;15590664;15489334;15231748;15014966;14702039;12477932;12076535;11682484;11566180;11111040;9419338;19159283;19300455;21750192;18799729;19376791;21119685;22916308;21737450;21969365;22174154;22382022 51676 G3V2Z2;G3V3P8;G3V484;G3V4B2;Q96Q27 AB056723;AB488462;ABBA01030427;AF159164;AJ251238;AK002049;AK057078;AK093271;AK303686;AK315628;AL079302;AL132642;AL137735;AMYH01005968;BC032354;CH471061;NM_001202429;NM_016150 AAD45345;AAH32354;ABM82256;ABM85439;BAB64532;BAG37996;BAG51006;BAG51858;BAG64678;BAI77868;CAB70899;CAC17765;EAW81540;EAW81541;EAW81542;EAW81543;NP_001189358;NP_057234;Q96Q27 Hs.510327 1650498 RH65774 ASB-2;MGC40044 OTTHUMP00000245755;OTTHUMP00000245756;OTTHUMP00000245757;ankyrin repeat and SOCS box protein 2;ankyrin repeat and SOCS box-2 containing protein;ankyrin repeat and SOCS box-containing protein 2a;ankyrin repeat-containing protein ASB-2 APPROVED protein-coding ENSG00000100628 16012 05768 605759 REVIEWED 1348810 ASB4 ankyrin repeat and SOCS box containing 4 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008] 7 7 7 q21-q22 89814002 89865786 + 94953220 95005007 + 95115213 95169543 + 1580863;6480464 15929745;12853948;12690205;12477932;12076535;11111040;11076863;17276034;17636018;14702039 51666 Q9Y574 AACC02000013;ABBA01045776;ABBA01045777;AC002451;AC003079;AF156779;AK096449;AMYH01017699;BC025024;BC113479;BC113481;CH236949;CH471091;NM_016116;NM_145872 AAB83943;AAD41896;AAH25024;AAI11595;AAI13480;AAI13482;ADR83137;EAL24129;EAL24130;EAW76760;EAW76761;EAW76762;NP_057200;NP_665879;Q9Y574 Hs.602765;Hs.737518 1335993;1339980;1691392;2107859;5095092;7185349;7186554 ASB4_8047;D7S2431;D7S2482;G42093;MARC_51748-51749:1152645132:4 ASB-4;MGC142039;MGC142041 OTTHUMP00000204731;OTTHUMP00000204732;ankyrin repeat and SOCS box protein 4;ankyrin repeat and SOCS box-containing 4 APPROVED protein-coding ENSG00000005981 16009 05770 605761 REVIEWED 4140134 ASB9P1 ankyrin repeat and SOCS box containing 9 pseudogene 1 15 15 15 q26.1 69750740 69752364 + 91139881 91153668 + 93338714 93340338 + 728619 ABBA01053097;AC106028;AMYH01006934;BG059734;NR_033769 Hs.684129 APPROVED pseudo 20972 PROVISIONAL 1318243 ASB3 ankyrin repeat and SOCS box containing 3 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011] 2 2 2 p16.2 53737972 53854933 - 53750622 53867583 - 53897117 54014146 - 6480464 15899873;15489334;14702039;12477932;12076535;11509662;11111040;8125298;17353931;21145461;16344560;18187417;19322201;21988832;22939624;23251661 51130 Q9NVZ2 AB209795;ABBA01075236;ABBA01075237;AC007883;AC008064;AF156778;AK000985;AK001283;AK056069;AK222595;AK222715;AK303133;AMYH01010355;BC006488;BC009569;CH471053;DA038561;DB558848;NM_001201965;NM_016115;NM_145863 AAD41895;AAH06488;AAH09569;AAX93180;AAY24350;ABM84179;ABM87581;BAA91455;BAA91599;BAD93032;BAD96315;BAD96435;BAG51615;BAG64238;EAX00167;EAX00168;EAX00169;EAX00170;EAX00171;NP_001188894;NP_057199;NP_665862;Q9Y575 Hs.40763 1673255;1715515;1847441;2168157;2173021;2217032 A006Z48;ASB3_3822;D2S2570;G27383;RH120980;SHGC-12264 ASB-3;FLJ10123;FLJ10421;MGC12531;MGC132002;MGC996 OTTHUMP00000159607;OTTHUMP00000198696;OTTHUMP00000200612;OTTHUMP00000200662;ankyrin repeat and SOCS box protein 3;ankyrin repeat and SOCS box-containing 3 APPROVED protein-coding ENSG00000115239 16013 05769 605760 REVIEWED 1352084 ASB5 ankyrin repeat and SOCS box containing 5 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. [provided by RefSeq, Jul 2008] 4 4 4 q34.2 174462813 174518217 - 177371822 177427269 - 177134824 177190373 - 1580863;6480464 15489334;14702039;12477932;12076535;20379614;17207965 140458 D6R9Q2;Q5HYF3;Q8N7B5;Q8WWX0 ABBA01070411;ABBA01070412;AC019163;AC093605;AK096441;AK098693;AMYH01014734;AY057053;BC065710;BX647857;CH471056;NM_080874 AAH65710;AAL18248;ADQ32071;BAC04791;BAC05382;CAI46074;EAX04720;NP_543150;Q8WWX0 Hs.591712 ASB-5 OTTHUMP00000218996;OTTHUMP00000218997;SOCS box protein ASB-5;ankyrin repeat and SOCS box protein 5;ankyrin repeat and SOCS box-containing 5 APPROVED protein-coding ENSG00000164122 17180 10672 615050 REVIEWED 1313017 ASB7 ankyrin repeat and SOCS box containing 7 The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 15 15 15 q26.3 77556003 77605160 + 98960358 99007174 + 101142755 101191906 + 6480464 18029348;15203218;14702039;12477932;12076535;8125298;21145461;16325183;17207965;16159877;21628590;21988832;23006423;22797925 140460 H0YMJ1;Q9H672 AA830153;ABBA01020536;AC090695;AF451994;AK026204;AK057921;AK094123;AK222958;AK222974;AK289860;AMYH01006971;BC025252;BC063581;BQ933001;CD632230;CH471101;NM_024708;NM_198243 AAH63581;AAP97683;ADQ32570;BAB15392;BAD96678;BAD96694;BAF82549;EAX02274;EAX02275;EAX02276;EAX02277;NP_078984;NP_937886;Q9H672 Hs.31845;Hs.709044 1650456;1682912;1758427;2138680;2149886;2217034 ASB7_3711;D15S1314;RH93847;SHGC-148298;SHGC-52663;STS-N20924 FLJ22551;FLJ25192 ASB-7;OTTHUMP00000194832;OTTHUMP00000194833;ankyrin repeat and SOCS box protein 7;ankyrin repeat and SOCS box-containing 7 APPROVED protein-coding ENSG00000183475 17182 10674 615052 REVIEWED 1318216 ASB6 ankyrin repeat and SOCS box containing 6 The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011] 9 9 9 q34.13 103047698 103055260 - 131436704 131444265 - 132396883 132404448 - 6480464 15489334;15231829;14702039;12477932;12076535;8125298;16325183;21145461;17207965;16344560;16751776;21832049;22863883;21139048;19159283;19322201;22053931;22797925 140459 B4DRC4;Q9NWX5 ABBA01043939;AK000555;AK023004;AK093539;AK225618;AK292807;AK299193;AL390135;AL590369;AMYH01021762;BC001719;BC065913;BX648923;CH471090;CR627462;DA953275;NM_001202403;NM_017873;NM_177999 AAH01719;AAH65913;ACE86653;ACE87335;ADQ32604;ADZ15715;BAA91250;BAB14355;BAF85496;BAG61236;CAH10563;EAW87896;EAW87897;EAW87898;EAW87899;EAW87900;NP_001189332;NP_060343;NP_821066;Q9NWX5 Hs.125037 1689053;1852246;2110265;5014029;5015619;5020740;5020946;5022578;5022651;5024039;5037552 ASB6_8143;D11S2921;D11S3114;D13S1639;D16S325;D1S1423;D8S2279;L17809;L17971;RH93952;SGC32655 FLJ20548;MGC1024 ASB-6;OTTHUMP00000022342;OTTHUMP00000022343;ankyrin repeat and SOCS box protein 6;ankyrin repeat and SOCS box-containing 6 APPROVED protein-coding 17181 10673 615051 REVIEWED 1319481 ASB8 ankyrin repeat and SOCS box containing 8 12 12 12 q13.11 47339076 47348938 - 46827839 46837644 - 48541572 48551377 - 1580863;6480464 18029348;15489334;14702039;12559969;12477932;12076535;16341674;20211142;17207965;19159283 140461 F5GYF0;F5GZZ3;F5H023;F5H243;F5H5S9;F5H6A7;F5H772;F5H7B4;F8VS92;Q9H765 ABBA01031475;ABBA01031476;AC074029;AF464877;AK024908;AK125596;AK289957;AK297013;AMYH01004429;BC001321;BM837218;BQ009637;CH471111;CR457336;NM_024095 AAH01321;AAQ04830;ADQ31852;BAB15033;BAC86214;BAF82646;BAG59546;CAG33617;EAW57976;NP_077000;Q9H765 Hs.432699 1337159;1779330;2109065;2171412;5015619;5015861;5022200;5022450;7185938 ASB8_8144;D10S16;D10S275;D11S3114;DXS8011;L18426;SHGC-153332;WI-15661 FLJ21255;MGC5540;PP14212 ASB-8;OTTHUMP00000237000;OTTHUMP00000237001;OTTHUMP00000237007;OTTHUMP00000237009;OTTHUMP00000237010;ankyrin repeat and SOCS box protein 8;ankyrin repeat and SOCS box-containing 8 APPROVED protein-coding ENSG00000177981 17183 10675 615053 VALIDATED 1315779 ASCL3 achaete-scute complex homolog 3 (Drosophila) Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008] 11 11 11 p15.3 9078881 9084342 - 8915695 8921156 - 8959119 8964580 - 1580863;6480464 15475265;11784080;11528127;18029348;20211142;21832049 56676 Q9NQ33 AB046450;ABBA01061203;AC026894;AJ400877;AMYH01003377;CH471064;NM_020646 AAI41566;AAI46583;BAB83913;CAB92288;EAW68610;NP_065697;Q9NQ33 Hs.501852 2218260 ASCL3_4381 HASH3;SGN1;bHLHa42 ASH-3;achaete-scute homolog 3;bHLH transcription factor Sgn-1 (Salivary Glands 1);bHLH transcriptional regulator Sgn-1;class A basic helix-loop-helix protein 42 APPROVED protein-coding ENSG00000176009 740 18523 609154 PROVISIONAL 1344669 ASB9 ankyrin repeat and SOCS box containing 9 This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X p22.2 19377104 19404177 - 15172030 15203654 - 15262109 15288589 - 1580863;6480464 22418839;19275750;18680464;18029348;16189514;15489334;14702039;12477932;12076535;16325183;16344560;17148442;20302626;20211142;20878058;19159283;19060904 140462 Q7Z4A2;Q96DX5;R4GN94 ABBA01071278;ABBA01071279;ABBA01071280;ABBA01071281;ABBA01071282;ABBA01071283;AC095351;AK000643;AK292270;AL080091;AMYH01022105;AY337578;BC001244;BC013172;CH471074;DA943920;NG_016218;NM_001031739;NM_001168530;NM_001168531;NM_024087 AAH01244;AAH13172;AAQ17469;BAA91302;BAF84959;CAB45706;EAW98870;EAW98871;EAW98872;EAW98873;EAW98874;EAW98875;EAW98876;NP_001026909;NP_001162002;NP_001162003;NP_076992;Q96DX5 Hs.19404 1698814;1761867 RH102971;SHGC-145813 DKFZp564L0862;FLJ20636;MGC4954 ASB-9;OTTHUMP00000022955;OTTHUMP00000022956;OTTHUMP00000022957;ankyrin repeat and SOCS box protein 9;ankyrin repeat and SOCS box-containing 9;ankyrin repeat and suppressor of cytokine signaling box protein 9 APPROVED protein-coding ENSG00000102048 17184 06452 300890 REVIEWED 735625 ASCL2 achaete-scute complex homolog 2 (Drosophila) This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008] 11 11 p15.5 2246304 2248758 - 2289728 2292182 - 1580863;6480464 8751384;17165436;16568095;14561729;12917334;12477932;12099555;11440538;10757985;9610003;9175731;12670868;12482968;20479215;22384170;20856196;23181270 430 Q99929 ABBA01032096;ABBA01032097;AC129929;AF442769;AMYH01003319;BC028140;BC057801;BC136561;BC136567;NM_005170;S82817;U77629 AAB39362;AAB86993;AAH57801;AAI36562;AAI36568;AAL35362;NP_005161;Q99929 Hs.152475 1792994;1806878;1816836;1816918;1829630;1835798;1844924;2092396;2092398;2092400;2092402;2092404;2092406;2092408;2092410;2092412;2092414;2092416;2092418;2092420;2216880;2216882 ECD04404;ECD09464;ECD09508;ECD15947;ECD19060;ECD23678;PMC180905P1;REN117481;REN117482;REN117483;REN117484;REN117485;REN117486;REN117487;REN117488;REN117489;REN117490;REN117491;REN117492;REN117493;stSG548787;stSG548788 ASH2;HASH2;MASH2;bHLHa45 ASH-2;OTTHUMP00000011229;achaete-scute complex homolog-like 2 (drosophila);achaete-scute complex-like 2;achaete-scute homolog 2;class A basic helix-loop-helix protein 45;mammalian achaete/scute homologue 2 APPROVED protein-coding ENSG00000183734 739 03533 601886 VALIDATED 1603722 ASCL5 achaete-scute complex homolog 5 (Drosophila) 1 1 1 q32.1 174207616 174223353 - 199350256 199364960 - 201083081 201084500 - 6480464 647219 M0R2M9;Q7RTU5 ABBA01027535;AI274185;AI791516;AL139159;AMYH01001640;NM_001270601 NP_001257530;Q7RTU5 Hs.143949;Hs.721460 bHLHa47 ASH-5;achaete-scute complex homolog 5 (Drosophila);achaete-scute homolog 5;class A basic helix-loop-helix protein 47;hASH5 protein-coding 33169 VALIDATED 1351055 ASD1 atrial septal defect 1 7240710 9610535 431 741 1350086 ASCC1 activating signal cointegrator 1 complex subunit 1 This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 10 10 10 pter-q25.3 67139520 67259405 - 73526284 73645700 - 73855790 73976892 - 1580863;5128512;6480464 16394250 19074642;15489334;14702039;12477932;12077347;10810093;10567404;17207965;16344560;16385451;19680556;21791690;21139048;21890473;21906983;19322201;21963094;23000965 51008 E9PJM2;E9PKM6;E9PL92;E9PM82;E9PQ44;E9PQZ6;E9PR40;F5H874;H0YCB3;H0YE76;H0YE79;H0YER2;Q8N9N2 AA805081;ABBA01020360;ABBA01020361;ABBA01020362;ABBA01020363;ABBA01020364;ABBA01020365;ABBA01020366;AC022392;AF132952;AK023436;AK094170;AK096409;AK124364;AK298302;AL359339;AL607035;AMYH01002820;AMYH01002821;AMYH01002822;AW006945;AY013290;BC012291;CD706699;CH471083;DA297980;DA582532;DA942671;DA951859;DC361917;NG_031890;NM_001198798;NM_001198799;NM_001198800;NR_045564 AAD27727;AAG45476;AAH12291;ADQ32766;BAC04299;BAG51193;BAG53282;BAH12754;EAW54444;EAW54445;EAW54446;EAW54447;NP_001185727;NP_001185728;NP_001185729;Q8N9N2 Hs.500007 1666750;1700932;1721073;1736020;1739587;2115005;2148615;2161901;2167187;2218258;5022578;5024039 ASCC1_4380;D10S1300E;D10S1349E;D10S1351E;D16S325;D1S1423;D9S1745E;G59519;RH104093;RH137;SHGC-5957;WI-17675 ASC1p50;CGI-18;RP11-150D20.4;p50 ASC-1 complex subunit P50;OTTHUMP00000019781;OTTHUMP00000019782;OTTHUMP00000019783;OTTHUMP00000019784;OTTHUMP00000229899;OTTHUMP00000229901;activating signal cointegrator 1 complex subunit 1;trip4 complex subunit p50 APPROVED protein-coding 24268 614215;614266 REVIEWED 736393 ASCL1 achaete-scute complex homolog 1 (Drosophila) This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008] 12 12 q23.2 101875594 101878421 + 103351452 103354294 + 1300289;1580863;2314146;2314147;6480464;7240710 8221886;16730914;11564418 10903890;8390674;19176379;19097999;18587322;18587321;18585058;18491256;18339843;18311112;17923682;17507989;16899352;16344560;16103883;16029117;16021468;15701827;15489334;15272537;15240857;14759067;14668716;14532329;12477932;12050665;11948117;11940670;11825874;11309412;11171979;10656681;9197246;9186001;9126746;8662987;8595908;11564735;21495212;20206680;11736660;12000752;12858003;15492808;16160079;18802035;19008346;19744316;20097173;20124469;20515335;8900141;8948587;20659153;20538960;20677557;23739972;21300955;20842449;21573214;21856745;22422124;22172490;21684625;21737174;20301600;23300791 429 P50553 ABBA01053222;AC026108;AK290539;AMYH01004704;AW071836;BC001638;BC002341;BC003134;BC004425;BC031299;CF454566;CH471054;DA005289;L08424;NG_008950;NM_004316 AAA58376;AAH02341;AAH03134;AAH04425;AAH31299;ABM85497;ABW03754;BAF83228;EAW97703;NP_004307;P50553 Hs.703025 1682213;1744039;1762319;1795402;1847801;2147997;2153903 ASCL1_704;G10653;GDB:384904;RH92884;SHGC-146165;STS-L08424;WI-9226 ASH1;HASH1;MASH1;bHLHa46 ASH-1;OTTHUMP00000242539;achaete scute protein;achaete-scute complex homolog-like 1 (drosophila);achaete-scute complex-like 1;achaete-scute homolog 1;class A basic helix-loop-helix protein 46 APPROVED protein-coding ENSG00000139352 738 00011 100790;209880 REVIEWED 1344771 ASCC3 activating signal cointegrator 1 complex subunit 3 6 6 6 q16 101600815 101973409 - 101063329 101435945 - 100956608 101329224 - 1580863;6480464 11256614;16381901;15489336;15146197;14702039;12477932;12077347;11230166;11076863;10218103;21145461;19913121;20628086;15231748;19615732;20379614;20453000;18029348;17000644;23022380;22055184;19596686;21139048;21890473;21906983;22566634;22586326;22505724 10973 E5RFZ0;J3KNJ4;Q8N3C0 ABBA01014466;ABBA01014467;ABBA01014468;ABBA01014469;ABBA01014470;AI803859;AJ223948;AK023189;AK299117;AK307903;AK315197;AL121965;AL133338;AL356122;AL513207;AL591585;AL834463;AMYH01016544;AY013288;BC014358;BC026066;BC039857;BC050681;BC125211;BC125212;BC130038;CH471051;CN255848;NM_006828;NM_022091;Z86062 AAG45474;AAH26066;AAH50681;AAI25212;AAI25213;AAI50216;BAG37637;BAG61172;CAA11679;CAD39122;CAL38260;EAW48449;EAW48450;NP_006819;NP_071374;Q8N3C0 Hs.486031 1646578;1671003;1672638;1718161;1718311;1727457;1727525;1752163;1774817;2122507;2146941;5021341;5491579;5492005 AFM176xg9;D6S1153E;D6S1409;G62986;G63020;MARC_10283-10284:998926151:3;MARC_21686-21687:1044297767:1;RH122848;RH122927;RH65182;RH67970;SGC38363;SHGC-106043;ksks1 ASC1p200;DJ467N11.1;HELIC1;MGC26074;RNAH;dJ121G13.4;p200 ASC-1 complex subunit P200;B630009I04Rik;OTTHUMP00000016904;OTTHUMP00000016905;RNA helicase family;activating signal cointegrator 1 complex subunit 3;helicase, ATP binding 1;trip4 complex subunit p200 protein-coding ENSG00000112249 18697 09980;16805 614217 VALIDATED 1347917 ASCC2 activating signal cointegrator 1 complex subunit 2 22 22 22 q12.1 13984318 14033974 - 28514600 28564254 - 30184597 30234293 - 6480464 18029348;16169070;15489334;15231748;14702039;12477932;12077347;10591208;9847074;8125298;16009131;20211142;15342556;21139048;21906983;22318606 84164 B1AH59;B1AH60;F2Z2W4;F8WAQ6;H7C395;H7C3Y4;Q9H1I8 AA765659;ABBA01055281;ABBA01055282;ABBA01055283;ABBA01055284;AC004882;AK022886;AK025241;AK222723;AK223033;AK303257;AL096741;AMYH01012702;AY013289;BC025368;BC032760;BP201867;BQ017078;BU508026;CH471095;NM_001242906;NM_032204;Z82171 AAG45475;AAH25368;BAB14293;BAB15089;BAD96443;BAD96753;BAH13926;CAH56409;EAW59842;EAW59843;EAW59844;EAW59845;EAW59846;EAW59847;EAW59848;NP_001229835;NP_115580;Q9H1I8 Hs.731754 5017627;5021878 ASCC2;ha1770 ASC1p100;p100 ASC 1 complex subunit P100;ASC-1 complex subunit P100;OTTHUMP00000070973;OTTHUMP00000199727;activating signal cointegrator 1 complex subunit 2;trip4 complex subunit p100 protein-coding ENSG00000100325 24103 16515 614216 VALIDATED 1316784 ASCL4 achaete-scute complex homolog 4 (Drosophila) Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008] 12 12 12 q23.3 107833712 107835971 + 106692292 106694545 + 108168162 108170421 + 6480464 22549224;15475265;14516699;12617822;12477932;19166906 121549 Q6XD76 ABBA01053147;AC007622;AI290227;AMYH01004727;AY238895;BC128211;BC128212;BK000275;NM_203436 AAI28212;AAI28213;AAP69222;DAA01055;NP_982260;Q6XD76 Hs.149910 2219010;5493333 ASCL4_4382;UniSTS:485742 HASH4;bHLHa44 ASH-4;OTTHUMP00000211168;achaete-scute complex-like 4;achaete-scute complex-like 4 (drosophila);achaete-scute homolog 4;achaete-scute-like protein 4;class A basic helix-loop-helix protein 44;class II bHLH protein ASCL4 APPROVED protein-coding ENSG00000187855 24311 12374 609155 VALIDATED 1314918 ASH1L ash1 (absent, small, or homeotic)-like (Drosophila) This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008] 1 1 1 q22 128378194 128605465 - 153571676 153798948 - 155305052 155532324 - 1580863;6480464;6907045 22541069;10860993;18029348;17923682;17203973;16710414;16545939;16344560;15231748;15146197;10718198;17403666;21239497;19471022;21139048;21693764;22140534;22696682;22632162 55870 F8VWK7;H0YI82;Q9NR48 AB037841;AB209068;ABBA01016698;ABBA01016699;ABBA01016700;ABBA01016701;ABBA01016702;ABBA01016703;ABBA01016704;ABBA01016705;ABBA01016706;ABBA01016707;ABBA01016708;AF257305;AI912552;AK304873;AK307595;AL139410;AL353807;AMYH01001428;AMYH01001429;BQ883186;CH471121;CN365042;DA236222;NM_018489 AAF68983;AAI72595;BAA92658;BAD92305;BAG65610;EAW53068;NP_060959;Q9NR48 Hs.491060 1339295;1643984;1668327;1681020;1692258;1692352;1748885;1749649;1781416;1781418;1851266;2113676;2135570;2140355;2182121;5096755 AB063083;AL009474;AL033792;AL034034;ASH1L_2279;D1S2777;RH16337;RH45194;RH69490;RH93684;SHGC-110554;SHGC-111331;SHGC-111438;SHGC-111439;SHGC-35091;WI-15725 ASH1;ASH1L1;FLJ10504;KIAA1420;KMT2H ASH1-like protein;OTTHUMP00000015897;OTTHUMP00000015898;absent small and homeotic disks protein 1 homolog;histone-lysine N-methyltransferase ASH1L;lysine N-methyltransferase 2H;probable histone-lysine N-methyltransferase ASH1L APPROVED protein-coding ENSG00000116539 19088 06416 607999 REVIEWED 1323657 ASF1A ASF1 anti-silencing function 1 homolog A (S. cerevisiae) This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. [provided by RefSeq, Jul 2008] 6 6 q22.31 119263628 119272035 + 119215241 119230336 + 6480464 10759893;11897662;19029251;18971269;18378699;18096807;17328667;17293877;17292837;17054786;16980972;16344560;15840725;15664198;15621527;15213445;14718166;12842904;12477932;12093919;11470414;11230166;11042152;10810093;16189514;19862764;20308539;17207965;20800603;11172707;11256614;16169070;19305408;20016786;20227376;15073177;17242207;20393127;17940067;21414300;20504901;22863883;21347226;22407294;19410544;21807893;22247756;22401310;21113133;21724829;12660173;22951827 25842 Q9Y294 AA481056;AB028628;ABBA01026024;AF151856;AF161495;AF279306;AK025738;AL050261;AL132874;AMYH01016624;BC010878;CH471051;CR457347;DA902777;NM_014034 AAD34093;AAF29110;AAH10878;AAK82972;ADQ32460;BAA96542;BAB15228;CAB43363;CAG33628;EAW48193;NP_054753;Q9Y294 Hs.292316 1700536 RH103889 CGI-98;CIA;DKFZp547E2110;HSPC146 CCG1-interacting factor A;OTTHUMP00000218808;anti-silencing function 1A;anti-silencing function protein 1 homolog A;hAsf1;hAsf1a;hCIA;histone chaperone ASF1A APPROVED protein-coding ENSG00000111875 20995 16459 609189 REVIEWED 1343075 ASH2LP1 ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene 1 22 22 22 q11.22 6582634 6584044 + 21104714 21106124 + 22774714 22776124 + 9074928 266703 ABBA01055084;AMYH01012639;D87009;D87010;NG_000002 pseudo 19332 VALIDATED 6769643 ASH1L-AS1 ASH1L antisense RNA 1 1 q22 155531772 155533735 + 12477932 645676 ABBA01016697;ABBA01016698;AK126559;AL353807;AMYH01001429;AMYH01001430;AMYH01001431;BC009847;BC017347;BC065229;BC104640;BI916505;BX359981;NR_027023 BAC86594 Hs.568693 APPROVED miscrna ENSG00000235919 44146 VALIDATED 1343618 ASGR2 asialoglycoprotein receptor 2 This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the less abundant minor subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 17 17 p 6945365 6958852 - 7004641 7018130 - 1580863;6480464 3863106;11543633;16335952;15946216;15489334;21062743;12477932;12171918;12167617;12119473;12089159;11943787;8397210;7843709;2834401;1924301;1597447;1371982;20237496;19520807;18029348;10859341;12359251;12477859;18855599;19576873;19663694;20364278;20703846;21063834;21207081;7844558;9349295;11408579;21103663;21917589;21656538;22096539 433 I3L1H2;P07307;Q7Z4G9 ABBA01054848;ABBA01054849;ABBA01054850;AC120057;AF529374;AK303787;AK310123;AMYH01008068;BC017251;BM561839;BX483468;CH471108;DC315727;M11025;NG_029064;NM_001181;NM_001201352;NM_080912;NM_080913;NM_080914;U97197;X55283;X55284 AAB58308;AAB59519;AAH17251;AAQ09608;ABM83578;ABM86817;BAG64744;CAA38997;EAW90259;EAW90260;EAW90261;EAW90262;EAW90263;EAW90264;NP_001172;NP_001188281;NP_550434;NP_550435;NP_550436;P07307 Hs.654440 1681762;1771562;2122601 RH80271;STS-T67921;WI-11341 ASGP-R;ASGP-R2;ASGPR2;CLEC4H2;FLJ60040;HBXBP;HL-2;Hs.1259;L-H2 ASGP-R 2;ASGPR 2;C-type lectin domain family 4 member H2;C-type lectin domain family 4, member H2;HBxAg-binding protein;HL-2;OTTHUMP00000128352;OTTHUMP00000128353;asialoglycoprotein receptor 2;asialoglycoprotein receptor H2;hepatic lectin H2 APPROVED protein-coding ENSG00000161944 743 00152 108361 REVIEWED 737103 ASGR1 asialoglycoprotein receptor 1 This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the more abundant major subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 17 17 p13.2 7017474 7023386 - 7076750 7082883 - 1580863;6480464 8439566;11543633;10734069;15489334;12477932;12477859;12370180;12359251;12171918;12167617;12119473;11943787;10891274;10859341;3753585;2982798;2834401;1935897;1774077;16008586;19520807;20364278;16341674;20886072;15946216;16475991;18855599;1924301;19576873;19663694;19725223;20703846;21063834;21207081;7843709;7844558;9349295;21832049;22613667;22219600;18624398;21656538;22001757 432 I3L129;I3L1F8;I3L2S9;J3QSZ2;K7EPS5;P07306;Q6FGQ5 AB070933;ABBA01054851;ABBA01054852;AC120057;AK124286;AK308375;AK308677;AMYH01008070;BC032130;BM818592;BQ653541;BT019873;CH471108;CR542052;FJ410292;M10058;NM_001197216;NM_001671 AAA51785;AAH32130;AAV38676;ABM82956;ABM86147;ACQ90237;BAB83508;CAG46849;EAW90256;EAW90257;EAW90258;NP_001184145;NP_001662;P07306 Hs.12056;Hs.731669 1676043;2109067;2183824 ASGR1_8213;D17S2010;RH11640 ASGPR;ASGPR1;CLEC4H1;HL-1;Hs.12056 ASGP-R 1;ASGPR 1;C-type lectin domain family 4 member H1;C-type lectin domain family 4, member H1;HL-1;OTTHUMP00000128354;asialoglycoprotein receptor 1;hepatic asialoglycoprotein receptor 1;hepatic lectin H1 APPROVED protein-coding ENSG00000141505 742 00151 108360 REVIEWED 1312634 ASF1B ASF1 anti-silencing function 1 homolog B (S. cerevisiae) This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. [provided by RefSeq, Jul 2008] 19 19 p13.12 14091321 14108440 - 14230321 14247440 - 6480464 16751776;18378699;18096807;17353931;17328667;17054786;15664198;15146197;15020040;14702039;12842904;12477932;11897662;11470414;8125298;19913121;20628086;20133788;20227376;20016786;16980972;20953179;21179005;20651253;23178455;14718166;17940067;20504901;22939629;21987572;21139048;21890473;21906983;21113133;22407294;22505724 55723 K7EIL9;K7ELW9;K7EM93;K7ES22;Q9NVP2 AB104486;ABBA01029688;ABBA01029689;AC022098;AF279307;AK001288;AK001466;AK223080;AK302134;AMYH01009521;BC007726;BC010014;BC036521;CH471106;CN426445;CR457235;DQ587892;NM_018154 AAH07726;AAH10014;AAH36521;AAK82973;ACT64480;ACT64481;BAA91602;BAA91708;BAC87709;BAD96800;BAG63508;CAG33516;EAW84401;EAW84402;NP_060624;Q9NVP2 Hs.26516 1658265 WI-14108 CIA-II;FLJ10604 CCG1-interacting factor A-II;OTTHUMP00000197277;anti-silencing function protein 1 homolog B;hAsf1;hAsf1b;hCIA-II;histone chaperone ASF1B APPROVED protein-coding ENSG00000105011 20996 16460 609190 REVIEWED 736018 ASIC5 acid-sensing (proton-gated) ion channel family member 5 This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008] 4 4 4 q32.1 154082485 154119021 - 156970331 157006875 - 156750881 156787425 - 1580863;6480464 10767424 51802 Q9NY37 ABBA01070177;AC093830;AC125334;AJ252011;AMYH01014636;CH471056;NM_017419 AAI40357;AAI46498;CAB85607;EAX04887;NP_059115;Q9NY37 Hs.381349 1772236;2126980;2138515 D4S1370;D4S829;G34226 ACCN5;HINAC;INAC OTTHUMP00000220876;acid-sensing ion channel 5;amiloride-sensitive cation channel 5;amiloride-sensitive cation channel 5, intestinal;amiloride-sensitive sodium channel;human intestine Na(+) channel APPROVED protein-coding ENSG00000256394 17537 16470 REVIEWED 1353665 ASIC3 acid-sensing (proton-gated) ion channel 3 This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] 7 7 q35 150376885 150380774 + 150745379 150749843 + 1580863;6480464 9744806;9571199;18854755;17012229;15574747;15471860;15317815;12690205;12578970;12477932;12060708;11872753;11842212;11587714;10842183;9886053;22702502;22829666;20416288;20693874;19885742;21092862;22809504;21586569;22157923;22854960 9311 H7C4W0;H7C5N6;Q9UHC3 A82593;A82597;A82786;AACC02000108;AB010575;AB209421;ABBA01035167;AC010973;AF057711;AF095897;AF195024;AF195025;AI580095;AK128129;AK313926;AMYH01018142;BC030282;CH471173;NM_004769;NM_020321;NM_020322;NR_046401 AAC62935;AAC64188;AAF19817;AAF19818;AAI56797;BAA25897;BAD92658;BAG36647;CAB69243;CAB69244;CAB69252;EAL24495;EAL24496;EAL24497;EAW54052;EAW54053;EAW54054;EAW54055;NP_004760;NP_064717;NP_064718;Q9UHC3 Hs.647113 5113208 RH92393 ACCN3;DRASIC;SLNAC1;TNaC1 OTTHUMP00000213253;OTTHUMP00000213254;OTTHUMP00000213255;OTTHUMP00000213256;OTTHUMP00000213257;acid-sensing ion channel 3;amiloride-sensitive cation channel 3;amiloride-sensitive cation channel 3, testis;hASIC3;hTNaC1;modulatory subunit of ASIC2a;neuronal amiloride-sensitive cation channel 3;proton-gated cation channel subunit;testis sodium channel 1 APPROVED protein-coding ENSG00000213199 101 10626 611741 REVIEWED 1313775 ASH2L ash2 (absent, small, or homeotic)-like (Drosophila) 8 8 p11.2 38082168 38116385 + 37963011 37997598 + 1580863;6480464 12670868;17500065;17612494;17846119;17925232;21285357;10393421;11466562;14992727;15199122;19131338;18245475;16892064;16189514;15761153;15489334;15231748;12482968;12477932;16169070;16510874;17998332;16253997;16603732;17355966;17761849;18082152;18680430;19187761;19433449;19556245;19896696;20064463;20085832;20093773;20150277;20208542;21124902;15960974;16159877;16510875;16713563;17050672;18026121;18066051;19047629;20211142;22939629;22990118;21220120;21445285;19660582;20516061;20937768;21642971;19136632;21660059;20305087;21139048;21502505;21531708;21890473;17825402;21382349;21988832;23453805;21884981;22231628;22665483;21653943;16344560;22267201;18838538;23307926 9070 E5RFH5;E5RHM1;F5H8F7;H0YAQ0;H0YBF6;Q9UBL3 AB020982;AB022785;ABBA01023551;AC084024;AF056717;AF056718;AK291750;AK291938;AK293699;AK298483;AK311336;AMYH01018653;AP006545;AW962440;BC015936;CA417078;CH471080;DA156139;DC326351;DC353644;DC396707;NM_001105214;NM_001261832;NM_004674;NR_049736 AAC13563;AAC13564;AAH15936;BAA35127;BAA74520;BAF84439;BAF84627;BAG57134;BAG60693;EAW63336;EAW63337;EAW63338;EAW63339;EAW63340;NP_001098684;NP_001248761;NP_004665;Q9UBL3 Hs.521530 1649254;1701332;1774274;2131659;2134286;2217038;5095046 ASH2L;ASH2L_3207;D6S1405;NIB1979;RH104296;RH35988;SHGC-58272 ASH2;ASH2L1;ASH2L2;Bre2 ASH2-like protein;OTTHUMP00000225574;OTTHUMP00000225578;OTTHUMP00000225579;set1/Ash2 histone methyltransferase complex subunit ASH2 protein-coding ENSG00000129691 744 05309 604782 VALIDATED 1352939 ASLP1 argininosuccinate lyase pseudogene 1 22 22 22 q11.23 7830243 7834634 - 22321253 22325638 - 23991155 23995546 - 436 ABBA01055117;AMYH01012646;AP000346;NG_002637 2148536;2157866 RH46913;WI-22687 ASLL APPROVED pseudo 747 INFERRED 737359 ASIC2 acid-sensing (proton-gated) ion channel 2 This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012] 17 17 q12 28364218 29507938 - 31340105 32483825 - 1298644;1300338;1580863;1300241;6480464 8921408;734884;625485 8626462;11802773;19091960;17553932;17548344;17534430;17376794;16704974;15504740;15489334;15471860;12477932;11739374;10842183;9360943;9037075;8631835;20201926;20379614;20306292;20677014;21378988;22157923;21961650;21811305;21810271;22493691;23251661 40 Q16515 ABBA01000736;ABBA01000737;ABBA01011210;AC003687;AC004147;AC008133;AC011824;AC015751;AC024610;AC024614;AC025898;AC027233;AC078907;AC123769;AK127748;AK313043;AL834182;AMYH01008347;AMYH01008348;AMYH01008349;AMYH01008350;BC075042;BC075043;CH471147;NG_029763;NM_001094;NM_183377;U50352;U53212;U57352 AAB49182;AAC50432;AAC50498;AAH75042;AAH75043;ABZ92042;BAG35875;BAG54565;CAD38879;EAW80216;NP_001085;NP_899233;Q16515 Hs.368417 1337065;1342106;1649703;1677927;1680894;1680918;1682221;1689061;1707052;1710822;1711936;1717693;1718963;1726253;1726269;1726429;1752483;1761797;1762195;1763721;1779686;1780142;1783538;1783552;1783572;1783594;1787810;1847635;1850245;1856366;2108573;2114106;2116200;2116984;2126577;2129455;2143611;2179531;2181217;2183327;2187825;2187827;2187829;2187831;2187833;2187839;2187841;2187843;2187845;5093708 AB056819;D17S1316;D17S1540;D17S1656;D17S1694;D17S1850;D17S2139;D17S2194;FB6F10;G09780;G09898;G28628;G32877;G42370;G49579;G62513;G62594;G72117;G72118;G72119;G72120;G72121;G72122;G72123;G72124;G72125;RH122277;RH123189;RH28431;RH48684;RH66290;RH67569;RH76641;RH92493;RH93845;SHGC-106373;SHGC-145757;SHGC-146075;SHGC-147393;SHGC-153663;SHGC-153682;SHGC-154441;SHGC-154446;SHGC-155068;SHGC-156229;SHGC-173267;SHGC-81279;SHGC-84158;STS-AA019851;TLK2_8170 ACCN;ACCN1;ASIC2a;BNC1;BNaC1;MDEG;hBNaC1 OTTHUMP00000163794;acid-sensing ion channel 2;amiloride-sensitive brain sodium channel;amiloride-sensitive cation channel 1;amiloride-sensitive cation channel 1, neuronal;amiloride-sensitive cation channel neuronal 1;brain sodium channel 1;degenerin;mammalian degenerin homolog;neuronal amiloride-sensitive cation channel 1 APPROVED protein-coding ENSG00000108684 99 03471 601784 REVIEWED 1350953 ASMD anterior segment mesenchymal dysgenesis 7240710 437 749 107250;610256 69199 ASIP agouti signaling protein In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008] 20 20 q11.2-q12 32311832 32320809 + 32848171 32857148 + 1625724;1580863;2313999;2314006;1357925;6480464;6484113 7987393;14633851;10426381;15189116 7757071;7937887;19384953;19382693;18637131;18563784;18488028;18488027;17952075;17525122;16704456;16091846;15998953;15726415;15701517;15489334;15016309;12519127;12477932;12055320;11833005;22447455;11780052;22628150;11447115;9761782;9058374;19710684;20831872;19913121;20585627;20628086;21221757;23548203;21983787;22976474 434 P42127 ABBA01019206;AL035458;AMYH01011862;BC104238;BC104239;CH471077;L37019;NG_011439;NM_001672;U12775 AAA89208;AAB61247;AAI04239;AAI04240;EAW76282;NP_001663;P42127 Hs.659995 1658163;2145834;2161839 BCD1491;SHGC-36988;Z94291 AGSW;AGTI;AGTIL;ASP;MGC126092;MGC126093;SHEP9 OTTHUMP00000030681;agouti;agouti (mouse)-signaling protein;agouti signaling protein, nonagouti homolog;agouti switch protein;agouti-signaling protein;nonagouti homolog 1643038;1643045;1643048;1643054;1643056;1643057;1643059;1643063;1643064;1643071;1643077;1643080;1643085;1643087;1643092;1643095;1643096;1643376;1643383;1643385;1643396;2289429;2289431;2316052 BW169_H;BW170_H;BW171_H;BW172_H;BW173_H;BW174_H;BW175_H;BW176_H;BW177_H;BW178_H;BW179_H;BW180_H;BW181_H;BW182_H;BW183_H;BW184_H;BW185_H;BW186_H;BW187_H;BW305_H;BW306_H;BW311_H;BW312_H;GLUCO208_H APPROVED protein-coding ENSG00000101440 745 02562 600201;611742 REVIEWED 1604616 ASIC4 acid-sensing (proton-gated) ion channel family member 4 This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012] 2 2 2 q35 214148884 214173457 + 220087296 220111738 + 220378892 220403494 + 6480464 15815621;10852210;18662336;17207965;15489334;12477932;11571555;9847074 55515 Q96FT7 ABBA01023840;AC009955;AC053503;AC139723;AJ271643;AJ408881;AK308804;AK309373;AMYH01011509;BC010439;BC031812;BC073912;CH471063;EL736952;NM_182847 AAH10439;AAH31812;AAY15054;ABM83030;CAB93980;CAC51338;EAW70760;EAW70761;EAW70762;EAW70763;NP_878267;Q96FT7 Hs.87469 1708950;1799166;1799334;1800130;1802098;1803098;1803860;1808420;1808928;1810900;1812700;1816888;1819886;1821900;1824854;1826130;1826388;1826842;1827776;1828036;1828358;1828846;1829926;1830974;1834522;1837280;1841592;1842306;1842694;1842836;1843076;1964564;1964566;1964568;1964570;1964572;1964574;1964576;1964578;1964580;1964582;1964584;1964586;1964588;1964590;1964592;1964594;1964596;1964598;1964600;1964602;1964604;1964606;1964608;1964610;1964612;1964614;1964616;1964618;1964620;1964622;1964624;1964626;1964628;1964630;1964632;1964634;1964636;1964638;1964640;1964642;1964644;1964646;1964648;1964650;1964652;1964654;1964656;1964658;1964660;1964662;1964664;1964666;1964668;1964670;1964672;1964674;1964676;1964678;1964680;1964682;1964684;1964686;1964688;1964690;1964692;1964694;1964696;1964698;1964700;1964702;1964704;1964706;1964708;1964710;1964712;1964714;1964716;1964718;1964720;1964722;1964724;1964726;1964728;1964730;1964732;1964734;1964736;1964738;1964740;1964742;1964744;1964746;1964748;1964750;1964752;1964754;1964756;1964758;1964760;1964762;1964764;1964766;1964768;1964770;1964772;1964774;1964776;1964778;1964780;1964782;1964784;1964786;1964788;1964790;1964792;1964794;1964796;2108687;2214004;2214006;2214008;2214010;2214012;2214014;2214016;2214018;2214020;2214022;2214024;2214026;2214028;2214030;2214032;2214034;2214036;2214038;2214040;2214042 ACCN4_8063;ECD00429;ECD00516;ECD00921;ECD01931;ECD02440;ECD02842;ECD05191;ECD05447;ECD06448;ECD07361;ECD09490;ECD11013;ECD12036;ECD13526;ECD14175;ECD14308;ECD14536;ECD15010;ECD15141;ECD15304;ECD15550;ECD16096;ECD16623;ECD18409;ECD19807;ECD21993;ECD22356;ECD22554;ECD22625;ECD22746;REN53156;REN53157;REN53158;REN53159;REN53160;REN53161;REN53162;REN53163;REN53164;REN53165;REN53166;REN53167;REN53168;REN53169;REN53170;REN53171;REN53172;REN53173;REN53174;REN53175;REN53176;REN53177;REN53178;REN53179;REN53180;REN53181;REN53182;REN53183;REN53184;REN53185;REN53186;REN53187;REN53188;REN53189;REN53190;REN53191;REN53192;REN53193;REN53194;REN53195;REN53196;REN53197;REN53198;REN53199;REN53200;REN53201;REN53202;REN53203;REN53204;REN53205;REN53206;REN53207;REN53208;REN53209;REN53210;REN53211;REN53212;REN53213;REN53214;REN53215;REN53216;REN53217;REN53218;REN53219;REN53220;REN53221;REN53222;REN53223;REN53224;REN53225;REN53226;REN53227;REN53228;REN53229;REN53230;REN53231;REN53232;REN53233;REN53234;REN53235;REN53236;REN53237;REN53238;REN53239;REN53240;REN53241;REN53242;REN53243;REN53244;REN53245;REN53246;REN53247;REN53248;REN53249;REN53250;REN53251;REN53252;REN53253;REN53254;REN53255;REN53256;REN53257;REN53258;REN53259;REN53260;REN53261;REN53262;REN53263;REN53264;REN53265;REN53266;REN53267;REN53268;REN53269;REN53270;REN53271;REN53272;SHGC-79532;stSG633053;stSG633054;stSG633055;stSG633056;stSG633057;stSG633058;stSG633059;stSG633062;stSG633063;stSG633064;stSG633065;stSG633066;stSG633067;stSG633068;stSG633069;stSG633070;stSG633071;stSG633072;stSG633073;stSG633074 ACCN4;BNAC4;MGC17248;MGC24860 OTTHUMP00000064871;OTTHUMP00000064872;acid-sensing ion channel 4;amiloride-sensitive cation channel 4;amiloride-sensitive cation channel 4, pituitary;amiloride-sensitive cation channel family member 4, pituitary;brain sodium channel 4 APPROVED protein-coding ENSG00000072182 21263 16231 606715 REVIEWED 731360 ASIC1 acid-sensing (proton-gated) ion channel 1 This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] 12 12 q12 48737754 48763661 + 50451420 50477405 + 1298544;1300339;1580863;1300242;6480464 9037075;734886;704418 11802773;9062189;19185346;18662336;18514062;18349698;17984098;17548344;17443677;17392378;17324378;15952105;15738111;15576453;15574747;15489334;15471860;15247234;14988500;12578970;12477932;12393854;12244121;11988176;11748227;11739374;11512022;11448963;10798398;10362604;9360943;8685718;22157923;20371317;19561078;19654327;20048170;20215117;20216553;20299463;20306292;20601429;21036899;21176140;21346156;8889548;21664108;23048040;23224900 41 A8K1U5;F8VSK4;H0YHD6;H7C1W9;P78348 ABBA01031553;ABBA01031554;AC025154;AK290010;AK293960;AK311047;AMYH01004450;AW451342;BC013891;BC028722;BC133707;BM981170;CH471111;DR003232;EU078959;HM991481;NM_001095;NM_001256830;NM_020039;NR_046389;U78180;U78181 AAB48980;AAB48981;AAH13891;AAI33708;ABU48925;ADP44689;BAF82699;BAG57332;EAW58116;EAW58117;EAW58118;EAW58119;NP_001086;NP_001243759;NP_064423;P78348 Hs.274361 1666176;2106945;2175612 ACCN2_7741;RH70705;WI-22480 ACCN2;ASIC;ASIC1A;BNaC2;hBNaC2 ACCN2 variant 3;Cation channel, amiloride-sensitive, neuronal, 2;OTTHUMP00000242165;OTTHUMP00000242166;OTTHUMP00000242773;OTTHUMP00000242774;acid-sensing ion channel 1;acid-sensing ion channel 1a protein;amiloride-sensitive cation channel 2, neuronal;brain sodium channel 2 APPROVED protein-coding ENSG00000110881 100 04182 602866 REVIEWED 731559 ASL argininosuccinate lyase This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 7 7 q11.21 65178211 65195765 + 65540776 65558330 + 1599263;1302509;1599265;734610;1599267;1580863;1300048;2314010;2300098;70249;4142785;4110824;6480464;6907045;7240710 17198704;12408190;10652239;2263616;10353334;16121806;4062872;11779202;20805789;20567615 282632;17326097;16189514;15489334;12512996;12477932;12384776;11747433;11747432;9256435;6784763;3463959;3391281;3368457;2644168;2045097;1705937;19703900;20739017;20937351;22863883;21988832;21906983;21667091;21290785;22531684 435 F8W943;P04424 AACC02000112;ABBA01049004;AC068533;AF376770;AI469765;AK300519;AK310912;AK316334;AMYH01017483;AY203938;BC008195;BC033146;BQ949510;BU634268;BX328836;CH236961;CH471140;J03058;M14218;M21007;M57638;NG_009288;NM_000048;NM_001024943;NM_001024944;NM_001024946;Y00753 AAA35566;AAA51786;AAA51787;AAA51788;AAH08195;AAH33146;AAL57276;AAP34461;BAG62231;BAH14705;CAA68722;EAX07944;EAX07945;EAX07946;NP_000039;NP_001020114;NP_001020115;NP_001020117;P04424 Hs.632015 1786256;2147529;2148536;2157866;5016478;5124479 ASL;GDB:434012;RH46913;RH79831;SHGC-144290;WI-22687 ASAL OTTHUMP00000159903;OTTHUMP00000210324;OTTHUMP00000210325;OTTHUMP00000210326;OTTHUMP00000210327;argininosuccinase;argininosuccinate lyase;arginosuccinase APPROVED protein-coding ENSG00000126522 746 01948 207900;608310 REVIEWED 1346746 ASNSP1 asparagine synthetase pseudogene 1 8 8 8 q11.1 43489381 43510469 - 47610000 47645724 - 47490828 47529361 - 389652 ABBA01018436;AC093368;AC104576;AMYH01018700;NG_007178 2066270;2170641 D8S1585;REN104321 ASNSL1 APPROVED pseudo 754 INFERRED 1352956 ASNSP2 asparagine synthetase pseudogene 2 21 p11.2 9742188 9742343 + 10830953 442 AMYH01012120;CR381670;NG_029775 ASNSL2 APPROVED pseudo 755 INFERRED 4889736 ASNSP3 asparagine synthetase pseudogene 3 13 13 q32 81559083 81560403 - 100714551 100715871 - 100423061 ABBA01027094;AL355338;AMYH01005334;NG_021205 pseudo 39399 INFERRED 4889697 ASNSP4 asparagine synthetase pseudogene 4 8 8 43593546 43594601 + 47609252 47610307 + 100419423 ABBA01018437;AC104576;AMYH01018700;NG_026098 pseudo 39400 INFERRED 6481559 ASNSP5 asparagine synthetase pseudogene 5 1 142799587 142799739 + 100873794 AMYH01001005;BX572084;NG_032287 pseudo 39401 INFERRED 1345758 ASMTL-AS1 ASMTL antisense RNA 1 This gene serves as the antisense to the acetylserotonin O-methyltransferase-like gene. Multiple non-coding transcript variants have been found for this gene. [provided by RefSeq, Oct 2011] X X;Y p22.33; Yp11.32 1480380 1492584 + 1519424 1534314 + 14702039;12477932 80161 ABBA01055726;AF193043;AK023392;AL683870;AMYH01021995;AMYH01021996;BC093994;CH471074;NG_030331;NR_026710;NR_026711 AAG22471;BAB14557;EAW98681 Hs.521856 1676550;2119248 RH66350;STS-F04211 ASMTL-AS;ASMTLAS;CXYorf2;FLJ13330;NCRNA00105 APPROVED miscrna 25811 06522 VALIDATED 1353638 ASMT acetylserotonin O-methyltransferase This gene belongs to the methyltransferase superfamily, and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. The encoded enzyme catalyzes the final reaction in the synthesis of melatonin, and is abundant in the pineal gland. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2010] X;Y X;Y p22.3 or Yp11.3 1674348 1721974 + 1664348 1711974 + 1580863;6480464;6907045 8397829;17957233;17505466;15772651;15489334;12734775;12477932;11339514;8098975;7989373;1878930;21251267;20377855;20418777;20433639;20442744;22694957;21437622;21778461;21615493;23349736 438 I7HFW6;P46597 ABBA01055709;ABBA01055710;ABBA01055711;ABBA01055712;ABBA01055713;AK314922;AL683807;AMYH01022001;AMYH01022002;AMYH01022003;BC001620;CH471074;M83779;NG_016337;NM_001171038;NM_001171039;NM_004043;U11090;U11091;U11098 AAA17020;AAA58582;AAA58583;AAA75289;AAA75290;AAA75291;AAH01620;BAG37430;EAW98685;EAW98686;NP_001164509;NP_001164510;NP_004034;P46597 Hs.522572 1683403;1748463;1848069;1852802;2177147;5017879 CXYorf3;DXYS155E;RH69211;RH71197;SHGC-5417;SHGC-64829 ASMTY;HIOMT;HIOMTY OTTHUMP00000022834;OTTHUMP00000022835;OTTHUMP00000022836;acetylserotonin N-methyltransferase;acetylserotonin O-methyltransferase;acetylserotonin methyltransferase (Y chromosome);hydroxyindole O-methyltransferase APPROVED protein-coding ENSG00000196433 750 02058 300015;402500 REVIEWED 1603641 ASNSD1 asparagine synthetase domain containing 1 2 2 2 p24.3-q21.3 184121046 184130465 + 190234391 190243800 + 190526125 190535557 + 6480464 16534843;16344560;12477932;21906983;22797925 54529 C9IYZ1;C9J6C1;Q9NWL6 AB075481;ABBA01062379;AC012488;AK000759;AMYH01011344;AY116969;BC001243;CH471058;DA771653;NM_019048 AAH01243;AAM77212;AAX88843;BAA91364;BAE45745;EAX10898;EAX10899;EAX10900;NP_061921;Q9NWL6 Hs.101364 1718133;1734876;1734896;1775792;1854261;1858179;2109577;2171663 A002V47;D2S1634E;D2S1669E;NS3TP1_9795;RH122834;RH17929;RH18336;RH48880 FLJ20752;NBLA00058;NS3TP1 HCV NS3-transactivated protein 1;OTTHUMP00000163500;OTTHUMP00000205600;asparagine synthetase domain-containing protein 1 protein-coding ENSG00000138381 24910 17645 VALIDATED 1317371 ASNA1 arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) This gene represents the human homolog of the bacterial arsA gene, encoding the arsenite-stimulated ATPase component of the arsenite transporter responsible for resistance to arsenicals. This protein is also a central component of a transmembrane domain (TMD) recognition complex (TRC) that is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER). It recognizes and selectively binds the TMD of TA proteins in the cytosol, and delivers them to the ER for insertion. [provided by RefSeq, Oct 2011] 19 19 q13.3 12709306 12720137 + 12848306 12859137 + 1580863;6480464 20676083;8884272;9736449;17382883;17289575;15489334;12477932;10696239;9712828;8125298;21296983;18667436;19615732;19724867;20375064;20516149;22863883;23041287;21444755;21078624;21878631;20435896;21139048;21900206;21906983;22505607;21963094;23246001;23460677 439 K7ERW9;O43681 ABBA01029774;ABBA01029775;ABBA01029776;ABBA01029777;AC018761;AF047469;AK223363;AK291855;AK293588;AMYH01009495;AY304483;BC002651;BG426136;CH471106;NM_004317;U60276 AAC03551;AAC50731;AAH02651;AAP45050;ADZ15365;BAD97083;BAF84544;BAG57056;EAW84303;NP_004308;O43681 Hs.465985 1773667;1788482;1788484;2107861;2128167 ASNA1_8216;G67558;G67559;RH70684;STS-H08525 ARSA-I;ARSA1;ASNA-I;GET3;MGC3821;TRC40;hASNA-I ATPase ASNA1;arsenical pump-driving ATPase;arsenite-stimulated ATPase;golgi to ER traffic 3 homolog;hARSA-I;hASNA-I;transmembrane domain recognition complex 40 kDa ATPase subunit;transmembrane domain recognition complex, 40kDa APPROVED protein-coding ENSG00000198356 752 03555 601913 VALIDATED 1343754 ASNS asparagine synthetase (glutamine-hydrolyzing) The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] 7 7 q21.3 97319376 97339732 - 97481429 97501854 - 1580863;2316006;6480464;6907045 10081 2564390;2569668;2886907;16023613;10085239;17409444;19414379;19054556;18940792;18852115;18840095;17380207;17276738;17088436;16598302;16344560;15674423;15489334;15385533;12949534;12853948;12690205;12477932;12351626;12097650;11960987;11867623;9847074;8093451;7904551;6137879;3470743;2714790;2573597;2565875;16169070;21145461;21319273;19035175;20562859;16196087;20561401;22863883;22978410;22939629;22318606;22586326;20639865;21139048;21890473;21906983;19738201;19805454;21505976;21963094;22623428;23000965;23275563;23403946 440 C9J057;C9J605;C9JLA3;C9JLN6;C9JM09;C9JT45;F8WEJ5;Q15666 AA948141;ABBA01045743;ABBA01045744;AC005326;AC079781;AK000379;AK302189;AK302242;AK316224;AMYH01017709;BC008723;BC014621;BG718826;BT007113;BX104871;CH236949;CH471091;DA160359;DA661624;DA961373;DB483248;DC297828;L35946;M15798;M27054;M27396;NM_001178075;NM_001178076;NM_001178077;NM_001673;NM_133436;NM_183356 AAA36781;AAA51789;AAA52756;AAA63266;AAH08723;AAH14621;AAP35777;AAQ96856;ABM83944;ABM87262;BAG63553;BAG63594;BAH14595;EAL24115;EAW76723;EAW76730;EAW76731;EAW76732;EAW76733;NP_001171546;NP_001171547;NP_001171548;NP_001664;NP_597680;NP_899199;P08243 Hs.489207 1687708;2109069;2126743;5115132 ASNS;ASNS_8217;RH79681;WI-20023 TS11 OTTHUMP00000024510;OTTHUMP00000204938;OTTHUMP00000204939;OTTHUMP00000204940;OTTHUMP00000204941;OTTHUMP00000204942;TS11 cell cycle control protein;asparagine synthetase;asparagine synthetase [glutamine-hydrolyzing];glutamine-dependent asparagine synthetase APPROVED protein-coding ENSG00000070669 753 00153 108370 REVIEWED 1315744 ASMTL acetylserotonin O-methyltransferase-like The protein encoded by this gene has an N-terminus that is similar to the multicopy associated filamentation (maf) protein of Bacillus subtilis and to orfE of Escherichia coli, while the C-terminus is similar to N-acetylserotonin O-methyltransferase. This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] X;Y X;Y p22.3; Yp11.3 1482032 1531844 - 1472032 1522655 - 1580863;6480464 16189514;15489334;14702039;12477932;8889548;8125298;9736779;17081983;16344560;21832049;22863883;18029348;21890473;21906983;19850743 8623 B3KM43;E7ER97;O95671 ABBA01055724;ABBA01055725;ABBA01055726;AK001090;AK090498;AK225770;AK297805;AK299231;AK301844;AL683870;AMYH01021996;AMYH01021997;BC002508;BC010089;BM021926;BM129217;BU688748;CH471074;DA005122;DA301876;DA904467;NG_016772;NM_001173473;NM_001173474;NM_004192;Y15521 AAH02508;AAH10089;ADZ15744;BAC03468;BAG50855;BAG60143;BAG61263;BAG63287;CAA75675;CAA75676;EAW98682;NP_001166944;NP_001166945;NP_004183;O95671 Hs.533514 1676550;2119248 RH66350;STS-F04211 ASMTLX;ASMTLY;ASTML N-acetylserotonin O-methyltransferase-like protein;OTTHUMP00000022824;OTTHUMP00000022825;acetylserotonin N-methyltransferase-like APPROVED protein-coding ENSG00000169093 751 02156 300162;400011 REVIEWED 1344860 ASPG asparaginase homolog (S. cerevisiae) 14 14 14 q32.33 84606252 84633128 + 103621801 103648678 + 104552023 104579046 + 6480464 12477932;21063096;22861376 374569 G3V1Y8;H0YHD3;H0YHG5;Q86U10 ABBA01048391;AL136001;AMYH01006056;AW024833;AX781433;AX781435;BC035836;BC136637;BM544197;BX247999;BX280385;BX407951;CH471061;NM_001080464 AAH35836;AAI36638;CAD62331;CAE11776;CAE11778;EAW81859;NP_001073933;Q86U10 Hs.146239 C14orf76;GPA/WT 60 kDa lysophospholipase;OTTHUMP00000242688;OTTHUMP00000242691;wild-type L-asparaginase protein-coding ENSG00000166183 20123 VALIDATED 1605752 ASPDH aspartate dehydrogenase domain containing 19 19 19 q13.33 48066159 48069272 - 55706673 55709759 - 51014857 51017947 - 6480464 12477932;8889548;17207965 554235 A6ND91;M0QYD4;M0QZ80 ABBA01068319;AC008743;AMYH01009940;BC066359;BM695973;BM924033;BU729215;CH471135;NM_001024656;NM_001114598 A6ND91;AAH66359;ADQ32053;EAW71878;EAW71879;EAW71880;EAW71881;EAW71882;EAW71883;NP_001019827;NP_001108070 Hs.436338 aspartate dehydrogenase domain-containing protein;putative L-aspartate dehydrogenase protein-coding ENSG00000204653 33856 18692 VALIDATED 1350952 ASPA aspartoacylase This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 p13.3 3326046 3349450 + 3377404 3402700 + 1599291;1599298;1601247;1580863;6480464;6907045;7240710 8252036;15857674;16707098 18293939;18264947;17391648;17194761;17027983;16935940;16669630;16437572;16189514;15489334;22219087;22019069;14699612;12706335;12638939;12477932;12205125;10909858;10837925;10564886;9407392;8659549;8088831;8023850;7668285;7599639;3116332;27051;18029348;20201926;20301412;22468686;22750302;23049088 443 I3L0T3;I3L4M0;P45381;Q6FH48 ABBA01054737;ABBA01054738;AC025125;AK312901;AMYH01008030;BC010941;BC029128;CH471108;CR541908;NG_008399;NM_000049;NM_001128085;S67156;S74727 AAB29190;AAD14981;AAH29128;ABM83005;ABM86198;BAG35747;CAG46706;EAW90506;EAW90507;NP_000040;NP_001121557;P45381 Hs.171142 1652794;1663106;1718779;1743907;2127401 D17S2054;GDB:375371;RH123093;RH17906;STS-H83906 ACY2;ASP ACY-2;Canavan disease;OTTHUMP00000115814;aminoacylase 2;aminoacylase-2;aspartoacylase;aspartoacylase (Canavan disease);aspartoacylase (aminoacylase 2, canavan disease) APPROVED protein-coding 756 02033 271900;608034 REVIEWED 1605839 ASPHD1 aspartate beta-hydroxylase domain containing 1 16 16 16 p11.2 72879828 72885036 - 29819648 29824878 + 29912147 29917377 + 6480464 15489334;12477932;9110174;8619474 253982 I3L2A5;I3L2Y2;Q5U4P2 ABBA01013111;ABBA01013112;ABBA01013113;ABBA01013114;ABBA01013115;ABBA01013116;AC120114;AF070642;AMYH01007495;BC009033;BC029136;BC034275;BC040933;BC085011;BC126319;BC126321;BC144152;BU193236;CH471238;NM_181718 AAH09033;AAH29136;AAH34275;AAH40933;AAH85011;AAI26320;AAI26322;AAI44153;ADR83156;EAW79971;EAW79972;NP_859069;Q5U4P2 Hs.655761 1676912;1679027;1682726;1730407;1772619;2151310;2181778 D16S3185;D16S425E;RH11802;RH64895;RH78940;SHGC-60606;UniSTS:67512 OTTHUMP00000163001;aspartate beta-hydroxylase domain-containing protein 1 protein-coding ENSG00000174939 27380 14139 VALIDATED 1323751 ASPH aspartate beta-hydroxylase This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009] 8 8 q12.1 62578374 62789560 - 62413115 62627199 - 1580863;2325824;6480464;6902945 16673309;21898484 11007777;7821814;10974562;19200576;19087304;18288418;17156427;17020779;16949909;16564107;16341145;16154531;15302935;15302852;12713872;12477932;12130746;12118090;11069905;10956665;10767180;9287354;8823296;11991713;16344560;19663697;8889548;16341674;20562859;16712791;21145461;14702039;17207965;19197126;17500595;21832049;18781797;21139048;21890473;21906983;22123818;21862239;22586105;15041652;17569730;17400717;18387192;19403607;19567751 444 B4DQ07;B7ZM96;E5RG29;E5RG56;E5RHJ2;E5RHK2;E5RJL3;G3XAN5;Q6NXR7 ABBA01041825;ABBA01041826;ABBA01041827;AC067881;AC090094;AF184241;AF224468;AF224469;AF289489;AF306765;AF339775;AK096383;AK291836;AK295528;AK298577;AK304314;AMYH01018760;AMYH01018761;BC015518;BC025236;BC066929;BC142967;BC144362;BC144363;BI793083;BM785890;BU623111;BU741737;BX102882;CA420254;CB115846;CB122028;CH471068;CR996516;DA136318;DN993915;EU718494;FJ461473;N83868;NG_013210;NM_001164750;NM_001164751;NM_001164752;NM_001164753;NM_001164754;NM_001164755;NM_001164756;NM_004318;NM_020164;NM_032466;NM_032467;NM_032468;S83325;U03109 AAA82108;AAB50779;AAF82246;AAF82247;AAG16983;AAG40811;AAG42257;AAH15518;AAH25236;AAH66929;AAI42968;AAI44363;AAI44364;AAI66658;ACD93450;ACK37363;ADQ32246;BAF84525;BAG58441;BAG60769;BAG65166;EAW86840;EAW86841;EAW86842;EAW86843;EAW86844;EAW86845;EAW86846;EAW86847;EAW86848;EAW86849;NP_001158222;NP_001158223;NP_001158224;NP_001158225;NP_001158226;NP_001158227;NP_001158228;NP_004309;NP_064549;NP_115855;NP_115856;NP_115857;Q12797 Hs.332422 1664224;1680371;1687303;1735744;1735768;1740025;1773822;1786540;1786594;1849926;1851045;1854793;2122198;2122200;2126038;2145480;2167965;2185470;2186937 A006X24;D8S1359E;D8S1374E;D8S1514;D8S1596;D8S1685;NIB322;RH12812;RH48484;RH66163;RH66780;RH91152;RH91181;SHGC-108120;SHGC-142338;SHGC-24147;SHGC-32770;WI-11767;WI-15471 AAH;BAH;CASQ2BP1;HAAH;JCTN;junctin A beta H-J-J;ASP beta-hydroxylase;OTTHUMP00000226573;OTTHUMP00000226574;OTTHUMP00000226610;OTTHUMP00000226611;OTTHUMP00000226612;OTTHUMP00000226613;OTTHUMP00000226615;OTTHUMP00000226619;OTTHUMP00000227490;OTTHUMP00000230645;OTTHUMP00000230646;OTTHUMP00000230647;aspartyl/asparaginyl beta-hydroxylase;aspartyl/asparaginyl-beta-hydroxylase;cardiac junctin;humbug;junctate;peptide-aspartate beta-dioxygenase APPROVED protein-coding ENSG00000198363 757 08996 600582 REVIEWED 1345823 ASPN asporin This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010] 9 9 q22 94258308 94284609 - 95218487 95244844 - 1580863;6480464;7240710 17517696;19327154;18452398;18434216;18336287;18304494;18178444;17827158;17804408;17603749;22367347;17195216;17024313;16707531;16632759;16542493;16255042;15640800;14702039;12975309;12477932;11587855;11152695;11152692;15342556;19589127;19997821;20144272;20939878;21413025;21528154;21329514 54829 B4E2Z7;C9JGC9;Q05CQ6;Q5TBF2;Q9BXN1 ABBA01018585;AF316824;AI741321;AK000136;AK027359;AK172737;AK304501;AK308107;AL137848;AMYH01021508;AY029191;AY358329;BC022059;BC063114;BP292032;CD110559;CH471089;NG_023430;NM_001193335;NM_017680 AAH22059;AAH63114;AAK31800;AAK35161;AAQ88695;BAA90967;BAB55060;BAG65309;EAW62822;EAW62823;NP_001180264;NP_060150;Q9BXN1 Hs.435655 1670882;1723923;1752083;1849331;2109071;2140046;2180310;2187282 ASPN_9828;D9S2071;D9S2074;RH119473;RH36006;SHGC-106025;SHGC-35056;STS-H75800 FLJ20129;OS3;PLAP-1;PLAP1;SLRR1C OTTHUMP00000021657;OTTHUMP00000021658;PLAP-1;asporin;asporin proteoglycan;periodontal ligament associated protein 1;periodontal ligament-associated protein 1;small leucine-rich protein 1C APPROVED protein-coding ENSG00000106819 14872 16288 603932;607850;608135 REVIEWED 1601744 ASPHD2 aspartate beta-hydroxylase domain containing 2 22 22 22 q12.1 10629181 10644874 + 25155302 25169571 + 26825280 26840978 + 6480464 15489334;15461802;14702039;12477932;10591208;20379614 57168 Q6ICH7 ABBA01055200;AK097157;AK315112;AL161993;AMYH01012684;BC036753;CH471095;CR456391;NM_020437;Z99714 AAH36753;BAG37570;BAG53427;CAB82325;CAG30277;CAI17879;CAK54397;CAK54696;EAW59715;EAW59716;NP_065170;Q6ICH7 Hs.567547 2148372 A007D44 FLJ39838 OTTHUMP00000198651;aspartate beta-hydroxylase domain-containing protein 2 protein-coding ENSG00000128203 30437 14255 VALIDATED 1350105 ASS1P1 argininosuccinate synthetase 1 pseudogene 1 6 6 6 p22.3 26250525 26252101 - 25131455 25132691 - 25023237 25024819 - 6321498;6093508;1440058 442167 ABBA01066541;AL160400;AMYH01016157;K01845;NG_001077 ASSP1 APPROVED pseudo 759 INFERRED 1345984 ASS1P11 argininosuccinate synthetase 1 pseudogene 11 7 7 7 p15.3 21245089 21246644 - 21226306 21227572 - 21259597 21261152 - 6093508;456;23251661 340274 AACC02000007;ABBA01056681;AC078791;AMYH01017105;CH236948;NG_008639 ASSP11 APPROVED pseudo 761 INFERRED 1348690 ASS1P10 argininosuccinate synthetase 1 pseudogene 10 5 5 5 q32 140689275 140690849 + 144588397 144590141 + 144608274 144609848 + 6093508;2435915 455 ABBA01026349;AC132803;AMYH01015678;NG_003021 ASSP10 APPROVED pseudo 760 INFERRED 1604987 ASPRV1 aspartic peptidase, retroviral-like 1 2 2 2 p13.3 70038387 70040559 - 70040730 70042901 - 70187221 70189397 - 6480464 22318384;21145461;16098038;16565508;15815621;15489334;14702039;12477932;21542132;21800051;23251661 151516 Q53RT3 ABBA01075517;AC079811;AK055994;AK057813;AMYH01010423;BC031997;BC094000;BC094002;CH471053;CS057934;NM_152792 AAH31997;AAH94000;AAH94002;AAY24017;BAB71067;BAB71587;CAI77615;EAW99836;NP_690005;Q53RT3 Hs.516253 1691036;5493315 RH99200;UniSTS:485684 MUNO;SASP;SASPase;Taps OTTHUMP00000205193;TPA-inducible aspartic proteinase-like protein;retroviral-like aspartic protease 1;skin aspartic protease;skin-specific retroviral-like aspartic protease protein-coding ENSG00000244617 26321 08683 611765 VALIDATED 1353562 ASS1P13 argininosuccinate synthetase 1 pseudogene 13 11 11 11 q22.3 104212835 104214390 + 106552222 106553681 + 107046938 107048493 + 6093508 341230 ABBA01039887;AMYH01004012;AP003057;NG_011669 ASSP13 APPROVED pseudo 763 INFERRED 1344256 ASS1P12 argininosuccinate synthetase 1 pseudogene 12 9 9 9 p21.1 32877206 32878772 + 32935894 32937320 + 32945892 32947458 + 6093508 392302 ABBA01065075;AL353717;AMYH01019321;NG_005207 ASSP12 APPROVED pseudo 762 INFERRED 1351034 ASS1P14 argininosuccinate synthetase 1 pseudogene 14 12 12 12 p11.21 12959053 12960616 + 33029940 33031370 + 33138672 33140235 + 6093508;6321498 459 ABBA01031698;AC087311;AMYH01004376;NG_001078 ASSP14 APPROVED pseudo 764 INFERRED 1354180 ASS1P2 argininosuccinate synthetase 1 pseudogene 2 2 2 2 p22.1 38878378 38879919 - 38890871 38892570 - 39037357 39038898 - 9847074;6093508 447 ABBA01075019;AC018693;AC092833;AMYH01010269;NG_000845 ASSP2 APPROVED pseudo 765 INFERRED 1345150 ASS1P4 argininosuccinate synthetase 1 pseudogene 4 X X X p22.33 7566322 7567886 + 3295023 3296742 + 3285086 3286650 + 6321498;6093508 449 ABBA01038685;AC004616;AMYH01022018;K01847;K01848;K01849;NG_000846 ASSP4 APPROVED pseudo 767 INFERRED 1349533 ASS1P6 argininosuccinate synthetase 1 pseudogene 6 Y Y Y q11.21 1014910 1016498 - 12552914 12554642 - 14042991 14044579 - 12815422;9847074;6093508;2822495 451 ABBA01065714;AC012502;NG_000848 ASSP6 APPROVED pseudo 769 INFERRED 1346261 ASS1P5 argininosuccinate synthetase 1 pseudogene 5 X X X q23 115334171 115335721 + 114805299 114806996 + 114899109 114900659 + 6093508 450 ABBA01053713;AC005000;AMYH01022855;NG_000847 ASSP5 APPROVED pseudo 768 INFERRED 1353180 ASS1P3 argininosuccinate synthetase 1 pseudogene 3 9 9 9 q21.2 51370364 51371943 + 79982999 79984248 + 80793078 80794657 + 6321498;6093508 158452 ABBA01033943;AL353705;AMYH01021434;K01846;NG_012998 ASSP3 APPROVED pseudo 766 INFERRED 1343525 ASRGL1 asparaginase like 1 11 11 11 q12.3 59434150 59490290 + 61861350 61917463 + 62104774 62160887 + 6480464 19414332;17213182;16344560;15342556;14702039;12477932;11984834;8125298;18029348;19839645;21900206;21139048;22891768;23144326 80150 B4DLU4;E9PJK6;Q7L266 ABBA01003222;AF411076;AK090908;AK091894;AK225802;AK297158;AK309845;AK313069;AMYH01003687;AMYH01003688;AP003064;AP003306;BC006267;BC021295;BC064963;BC093070;BP308677;CH471076;DA159051;DT220454;NM_001083926;NM_025080 AAH06267;AAH21295;AAH64963;AAH93070;AAM28434;ACE86596;ACE87277;BAG35897;BAG52245;BAG52437;BAG59656;EAW74012;EAW74013;EAW74014;EAW74015;EAW74016;EAW74017;NP_001077395;NP_079356;Q7L266 Hs.535326 2173765 STS-T23913 ALP;ALP1;CRASH;FLJ22316 L-asparaginase;L-asparagine amidohydrolase;OTTHUMP00000236068;OTTHUMP00000236070;asparaginase-like 1 protein;asparaginase-like protein 1;beta-aspartyl-peptidase;isoaspartyl dipeptidase;isoaspartyl peptidase/L-asparaginase protein-coding ENSG00000162174 16448 07006 609212 VALIDATED 1316111 ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011] 1 1 q31 195319997 195382287 - 197053257 197115824 - 1599300;1580863;6480464;7240710 16141009 19054571;19028728;18728014;18676753;18636190;18541031;18452193;18331833;18204051;17849285;17604569;17566767;17534152;17251122;17220170;17090670;17081983;16687438;16565220;16151010;16123590;15972725;15489334;15355437;15045028;14704186;14702039;14574646;12571366;12477932;12355089;11283617;11078481;21145461;19808985;19332161;19353628;19770472;20080800;20508983;20308539;21044324;20694558;21633703;22990118;23000965;20360068;21297427;21923303;21987572;21139048;21693764;21890473;21906983;21963094;20301772;23381943;22529908;22505724 259266 B3KWI2;Q5VYL4;Q8N4D1 ABBA01027596;AF509326;AK001379;AK001380;AK001411;AK095892;AK125107;AK226178;AL353809;AL627208;AMYH01001618;AY099890;AY099891;AY099892;AY099893;AY101201;AY367065;AY971955;AY971956;AY971957;BC015396;BC034607;BC040439;BF970006;BX648804;CH471067;NG_015867;NM_001206846;NM_018136 AAH15396;AAH34607;AAM44119;AAM44120;AAM44121;AAM44122;AAM48745;AAN40011;AAR12641;AAY46813;AAY46814;AAY46815;BAA91676;BAG50897;BAG54144;EAW91270;EAW91271;EAW91272;EAW91273;EAW91274;NP_001193775;NP_060606;Q8IZT6 Hs.121028 ASP;Calmbp1;DKFZp686N06184;FLJ10517;FLJ10549;FLJ43117;MCPH5 OTTHUMP00000034411;OTTHUMP00000034412;abnormal spindle-like microcephaly-associated protein;asp (abnormal spindle)-like, microcephaly associated (drosophila) APPROVED protein-coding ENSG00000066279 19048 08384 605481;608716 REVIEWED 1345680 ASS1P8 argininosuccinate synthetase 1 pseudogene 8 4 4 4 q31.22 146767823 146768717 - 149666762 149667837 - 149447412 149448306 - 9847074;6093508;2435915 453 ABBA01070065;AC093881;AMYH01014608;NG_003009 ASSP8 APPROVED pseudo 771 INFERRED 1602905 ASS1P7 argininosuccinate synthetase 1 pseudogene 7 3 3 3 q26.32 175419547 175421112 - 178497644 178500808 - 177014711 177016276 - 6321498;6093508 339845 ABBA01058579;AC117465;AMYH01013675;NG_001079 ASSP7 APPROVED pseudo 770 INFERRED 1348330 ASS1P9 argininosuccinate synthetase 1 pseudogene 9 5 5 5 q11.2 50108512 50110080 + 53190578 53192319 + 53154894 53156462 + 6093508;2435915;454 454 ABBA01015723;AC025175;AMYH01015086;NG_003022 1694706 G43543 ASSP9 APPROVED pseudo 772 INFERRED 1344232 ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1 The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011] 17 17 17 q25.3 76539749 76571790 + 77528715 77568571 + 79935426 79975282 + 6480464;7240710 18775313;18176180;17081983;15489334;14702039;14562105;12477932;11438465;11358836;11244503;10506710;20416077;21279521;22863883;21832049;16196087;22207755;19953087;21139048;21835426;21900206;21906983;21963094;22379092;22337587;22350894;23349634;23383273 79058 C9JAL9;J3KRF7;J3KRG1;J3KRY8;J3QL04;J3QR12;J3QR50;J3QRW3;Q9BZE9 ABBA01019659;ABBA01019660;AC137723;AC145207;AF324219;AK057403;AK057851;AK090682;AK126967;AK127159;AK127311;AK226086;AK290624;AMYH01008726;BC006152;BC018722;CH471099;NG_030375;NM_001251888;NM_024083;NR_045351 AAH06152;AAH18722;AAK08959;ABM83448;ABM86660;BAB71472;BAB71595;BAF83313;EAW89731;NP_001238817;NP_076988;Q9BZE9 Hs.298351 1678351;2153545 D17S704;RH79793 ASPCR1;ASPL;ASPS;FLJ45380;RCC17;TUG;UBXD9;UBXN9 UBX domain protein 9;UBX domain-containing protein 9;alveolar soft part sarcoma chromosomal region candidate gene 1 protein;alveolar soft part sarcoma locus;renal cell carcinoma gene on chromosome 17;renal cell carcinoma, papillary, 17;renal papillary cell carcinoma protein 17;tether containing UBX domain for GLUT4 APPROVED protein-coding ENSG00000169696 13825 06947 606236;606243 REVIEWED 1349169 ASTL astacin-like metallo-endopeptidase (M12 family) 2 2 2 q11.1 91230396 91244982 - 96153316 96167902 - 96789589 96804175 - 1580863;6480464 15087446;12477932;19913121;20628086;22318606 431705 Q3B826;Q6HA08 ABBA01036596;AC012307;AJ537600;AMYH01010721;BC107126;BC107127;CH471207;NM_001002036 AAI07127;AAI07128;CAD61265;EAW71389;NP_001002036;Q6HA08 Hs.447993 MGC129843 OTTHUMP00000207420;astacin-like metalloendopeptidase;oocyte astacin;ovastacin protein-coding ENSG00000188886 31704 16396 608860 VALIDATED 736136 ASS1 argininosuccinate synthase 1 The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012] 9 9 q34.1 132309915 132366482 + 133320094 133376661 + 1599301;1599263;1599267;1599305;1599310;1599265;1300048;2300098;4140479;4110824;70249;4140452;631755;4139898;4140449;4142785;6480464;6907045;7240710 7557970;17198704;10353334;15698416;11384198;10652239;4062872;12359751;20567615;11779202;19914391;12470967;11556547;20544730;20805789 1312326;12620389;2358466;6194510;19533750;19358837;19006241;19000307;18840401;18263583;17354225;17096330;16703398;16380201;16189514;16169070;16124451;15489334;15192091;14702039;14570901;12815590;12477932;11941481;11708871;11606680;11464474;9150948;8895530;8792870;7977368;6321498;6095035;3513483;3027451;2788888;1943692;1372742;891260;852520;19409979;19934275;20159990;19913121;20628086;20739017;20301631;21106532;23099195;21832049;22863883;22939629;17314511;23022198;21963094;21988832;20706999;18781797;20360068;21481813;21987572;21139048;21906983;22430140;21044950;19471022;23339388 445 P00966;Q5T6L4;Q5T6L5;Q5T6L6;Q5T6L7 ABBA01012048;AF363662;AK027126;AK293114;AK304625;AK315093;AL354898;AMYH01021769;AW672752;AY034076;BC009243;BC013224;BC021676;BE207182;BE794559;BF305325;BI603075;BX403885;CH471090;DB496935;L00081;L00084;M34903;NG_011542;NM_000050;NM_054012;X01630;Z36810 AAA51782;AAA51783;AAH09243;AAH21676;AAK67487;AAM60751;ACE86914;ACE87601;BAF85803;BAG37558;BAG65407;CAA25771;EAW87932;EAW87933;EAW87934;EAW87935;EAW87936;NP_000041;NP_446464;P00966 Hs.160786 1342290;1672046;1694706;1745645;1759747;1783216;2107863;2148869;2160520;5014493;5124104 ASS_8219;D12S1933;D9S1861;D9S1956;D9S2057;G43543;GDB:629967;L00083;RH91535;SHGC-151267;SHGC-152551 ASS;CTLN1 OTTHUMP00000022362;OTTHUMP00000022363;OTTHUMP00000022364;argininosuccinate synthase;argininosuccinate synthetase 1;arginosuccinate synthetase;citrulline--aspartate ligase;citrulline-aspartate ligase APPROVED protein-coding ENSG00000130707 758 04590 215700;603470 REVIEWED 1602904 ASTN1 astrotactin 1 Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009] 1 1 1 q25.2 149940230 150244095 - 175096826 175400647 - 176830203 177134024 - 6480464 19086053;18519826;18384059;16710414;16344560;12477932;9179496;9070947;8889548;3276720;20379614;21139048;22488871 460 B1AJS1;O14525;Q96BL7 AB006627;ABBA01027857;ABBA01027858;ABBA01027859;ABBA01027860;AK295126;AK307820;AK309094;AL021398;AL022145;AL031290;AL136983;AMYH01001519;AU132309;BC015438;BC032870;BC049377;BC064147;BC142697;BC146795;BM722747;BU620695;CH471067;NM_004319;NM_207108 AAH15438;AAI42698;AAI46796;BAA22958;BAG58151;EAW91005;EAW91006;EAW91007;EAW91008;NP_004310;NP_996991;O14525 Hs.495897 1656974;1659075;1668628;1692928;1692968;1704018;1705052;1710542;1714623;1715603;1723679;1725329;1735960;1756455;1771727;1850427;2109073;2115557;2143783;2163786;2163788;2184850;2187129 A001Y13;AL009305;AL034178;AL034201;ASTN_4385;D1S1946E;D1S3037;G16290;G19776;RH118982;RH119977;RH120945;RH123083;RH35833;RH64619;SHGC-143461;SHGC-30553;SHGC-32996;SHGC-75943;SHGC-75953;SHGC-77798;SHGC-78044;SHGC-86317 ASTN;KIAA1747 OTTHUMP00000032985;OTTHUMP00000032986;OTTHUMP00000032987;OTTHUMP00000032988;astrotactin-1 APPROVED protein-coding ENSG00000152092 773 09019 600904 VALIDATED 1314130 ASTN2 astrotactin 2 This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010] 9 9 9 q33.1 89835176 90825037 - 118227328 119217138 - 119187504 120177317 - 6480464 22683712;9734811;19086053;18940311;14702039;12477932;16344560;18839057;19910543;20195266;20379614;20889312;22658931;22504421;22566634;23251661;23284291 23245 B3KN99;B7ZKP4;B7ZKP5;H0Y3A8;H7C3I6;Q5VZX6 AB014534;ABBA01016275;ABBA01016276;ABBA01016277;ABBA01016278;ABBA01042640;ABBA01042641;ABBA01042642;ABBA01042643;ABBA01042644;ABBA01042645;ABBA01042646;AF116574;AI341147;AK024064;AK127350;AK315025;AL133282;AL133284;AL137024;AL157829;AL354981;AL355608;AL358792;AL392085;AL669963;AMYH01021678;AMYH01021679;AMYH01021680;AMYH01021681;BC010680;BC018759;BC029272;BC093835;BC101667;BC143289;BC143292;BC143293;BC146756;BM552790;BX648673;BX649176;CH471090;DA015423;NG_021409;NM_001184734;NM_001184735;NM_014010;NM_198186;NM_198187;NM_198188 AAF14357;AAH18759;AAH29272;AAH93835;AAI01668;AAI43290;AAI43293;AAI43294;AAI46757;BAA31609;BAG37513;BAG51261;BAG54491;EAW87444;NP_001171663;NP_001171664;NP_054729;NP_937829;NP_937830;NP_937831;O75129 Hs.601562 1335416;1337449;1339025;1650037;1657378;1670082;1671468;1696226;1717321;1724919;1724967;1727687;1749465;1749647;1750135;1756609;1759517;1761217;1763457;1763761;1773310;1777948;1787156;1787196;1848255;1850297;1851201;1851258;1951428;2108595;2110267;2111057;2132993;2150532;5014051;5015661;5019571;5037552;5118686;5125522;7190777;7190781 ASTN2_9326;AU047468;D11S3553;D3S3184;D8S2278;D8S2279;D9S1078;D9S154;D9S1802;D9S2151;D9S219E;D9S754;G10349;G19227;G31091;G63257;REN46569;RH118771;RH119226;RH122151;RH18010;RH18537;SHGC-111190;SHGC-111330;SHGC-112252;SHGC-13641;SHGC-14316;SHGC-143647;SHGC-145228;SHGC-147166;SHGC-147438;SHGC-150831;SHGC-156050;SHGC-31358;SHGC-35384;SHGC-83580;SHGC-86299;SHGC-8898;TRIM32_8005;WI-14828 KIAA0634;bA67K19.1 OTTHUMP00000022742;OTTHUMP00000022743;OTTHUMP00000022745;OTTHUMP00000162109;OTTHUMP00000162110;astrotactin-2;bA264C15.1 APPROVED protein-coding ENSG00000148219 17021 12498 612856 REVIEWED 1606299 ASTE1 asteroid homolog 1 (Drosophila) 3 3 3 q22.1 129157968 129170892 - 132215411 132228336 - 130732721 130745646 - 6480464 14702039;12477932;19503063 28990 B4DFL9;D6R9W5;D6RG30;D6RGH3;D6RJF1;H0Y982;Q2TB18 ABBA01059198;AC055733;AF113539;AK027258;AK027806;AK294156;AK301388;AMYH01013493;BC030274;BC069265;BC103709;BC110616;CH471052;NM_014065 AAF14876;AAH30274;AAI03710;AAI10617;BAB55383;BAG57480;BAG62927;EAW79214;EAW79215;EAW79216;NP_054784;Q2TB18 Hs.100878 2106501;2136188;2156750 HT001__6609;RH11935;RH78727 HT001;MGC129980 OTTHUMP00000216083;OTTHUMP00000216085;protein asteroid homolog 1 protein-coding ENSG00000034533 25021 11038 VALIDATED 1344717 ASXL3 additional sex combs like 3 (Drosophila) 18 18 18 q11 27966488 28135348 + 29412539 29581397 + 31158541 31327399 + 6480464 16412590;16344560;15138607;14702039;11214970;10737800;20379614 80816 K7EIX5;K7EJ76;K7EKI3;K7ELD7;K7ELG8;K7ELW2;K7EQ33;K7EQY1;K7ERH8;Q9C0F0 AA447511;AB051500;ABBA01022465;ABBA01022466;ABBA01022467;AC010798;AC023192;AC090989;AK056450;AK091683;AK131454;AL133050;AMYH01008933;BE145544;DB061724;NM_030632 BAB21804;BAB71186;BAD18599;CAB61377;NP_085135;Q9C0F0 Hs.464876 1342303;1723509;2117570;7187383 D18S456;D18S830;RH118571 KIAA1713 additional sex combs-like protein 3;putative Polycomb group protein ASXL3 protein-coding 29357 615115 PROVISIONAL 1342865 ASUN asunder spermatogenesis regulator 12 12 12 p11.23 32204262 32237410 - 26949379 26982521 - 27058112 27091254 - 6480464 17081983;16344560;16189514;15489334;14702039;12601173;12477932;12414650;8889548;8125298;15737938;22863883;22939629;20133760;19357193;21907836;21139048;21693764;21890473;20195357;21963094;23097494 55726 B4DNK1;F5H457;F5H5W1;F8VRX9;H0YH12;H0YI01;H0YIA9;Q9NVM9 ABBA01068042;AC024093;AF274950;AK001222;AK001492;AK001499;AK225336;AK297948;AL137401;AMYH01004350;AY211927;BC003081;BC008368;BM684866;CH471094;DB239903;NM_018164 AAH03081;AAH08368;AAK07527;AAO65180;BAA91565;BAA91721;BAA91725;BAG60263;CAB70726;EAW96538;EAW96539;NP_060634;Q9NVM9 Hs.505077 1659784;1720043;1720065;1725991;1726689 G62316;G62581;RH123773;RH123818;RH15768 C12orf11;FLJ10630;FLJ10637;GCT1;Mat89Bb;NET48;SPATA30 OTTHUMP00000240384;asunder, spermatogenesis regulator homolog (Drosphila);cell cycle regulator Mat89Bb homolog;germ cell tumor 1;protein asunder homolog;sarcoma antigen NY-SAR-95;spermatogenesis associated 30 APPROVED protein-coding ENSG00000064102 20174 07689 615079 VALIDATED 1312315 ASXL2 additional sex combs like 2 (Drosophila) ASXL2 is a human homolog of the Drosophila asx gene. Drosophila asx is an enhancer of trithorax (see MIM 159555) and polycomb (see MIM 610231) (ETP) gene that encodes a chromatin protein with dual functions in transcriptional activation and silencing (Katoh and Katoh, 2003 [PubMed 12888926]).[supplied by OMIM, Sep 2009] 2 2 2 p24.1 25802588 25941650 - 25815757 25954816 - 25962253 26101312 - 6480464 17353931;17672918;14702039;12888926;12477932;11214970;15231748;19615732;19815555;21047783;21832049;20360068;20805357;21906983;22505724 55252 E7EWD6;Q76L83 AB051472;AB084279;ABBA01045153;ABBA01045154;ABBA01045155;ABBA01045156;ABBA01045157;ABBA01045158;ABBA01045159;ABBA01045160;AC010150;AC064847;AK000649;AK001760;AMYH01010184;BC042999;BX647527;BX648218;CH471053;CR933613;NM_018263 AAH42999;AAY14841;ADZ15626;BAA91889;BAB21776;BAD00086;CAI45930;EAX00716;EAX00717;NP_060733;Q76L83 Hs.119815 1683178;1724783;1728547;1739569;1771038;2129372;2174316;2183628;2189539;2219014;5017607 A004H29;ASXL2_4387;D22S1565;D2S2091;G63712;PTGES3;RH122598;RH17952;RH92772;SGC33449;UniSTS:234880 ASXH2;DKFZp686C1968;FLJ10898;KIAA1685 OTTHUMP00000201375;additional sex combs-like protein 2;polycomb group protein ASXH2;putative Polycomb group protein ASXL2 APPROVED protein-coding ENSG00000143970 23805 10676 612991 VALIDATED 1318420 ATAD1 ATPase family, AAA domain containing 1 10 10 10 q23.31 83259379 83324398 - 89502855 89567897 - 89512875 89577917 - 737633;1580863;6480464 12477932 17203973;16303743;15489334;15164054;14702039;16385451;19615732;20379614;20877624;19322201;21139048;21890473;21906983 84896 B4E2J1;Q8NBU5 ABBA01021961;ABBA01021962;AC022016;AF361493;AK027506;AK075223;AK304297;AL133327;AL834370;AMYH01002932;BC010868;BC063530;BC073998;CH471066;CQ783876;HH961762;NM_032810 AAH10868;AAH63530;AAH73998;AAL57218;BAB55161;BAC11482;BAG65153;CAD39033;CAF86903;CBX51354;EAW50177;EAW50178;EAW50179;EAW50180;NP_116199;Q8NBU5 Hs.435948 1659731;1717089;2128874;2140191;2181051;2217040 A008T45;ATAD1_3693;G24570;RH121462;SHGC-36683;STS-W32476 AFDC1;FLJ14600;FNP001;THORASE ATPase family AAA domain-containing protein 1;OTTHUMP00000020030;OTTHUMP00000020031 protein-coding ENSG00000138138 25903 12499 614452 PROVISIONAL 1344611 ASXL1 additional sex combs like 1 (Drosophila) This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 20 20 q11 30409814 30490783 + 30946147 31027122 + 1580863;6480464;7240710 20410925;18239623;22058207;17474147;18624398;19609284;19388938;15489334;14702039;12657473;12477932;12168954;11780052;10231032;9477319;1349871;20678218;20596031;20408841;16606617;18506748;18957548;19586940;19615732;19865112;19880879;20182461;20334914;8889548;20693432;19815555;20880116;22915647;18258596;21307773;22905207;21832049;21346257;21455215;21706002;22271902;21576631;19377461;21988832;23000965;20805357;21923651;21987572;21904853;21139048;21890473;21906983;21963094;22031865;20360068;20436459;21712540;22542624;21642991;22419483;22436456;22535592;23294243;22897849;23365461;22929312;23009937;23018865;22505724;22489043;23099237 171023 A6NIZ6;G3V3V0;H0YJC9;Q498B9;Q5JWS8;Q6P1M8;Q9Y2I4 AB023195;AB084280;ABBA01019268;ABBA01019269;ABBA01019270;ABBA01019271;ABBA01019272;ABBA01019273;ABBA01019274;ABBA01019275;ABBA01019276;ABBA01019277;AJ438952;AK025756;AK122923;AL034550;AL117518;AL117647;AL121583;AMYH01011840;AMYH01011841;AMYH01011842;BC033284;BC064984;BC100280;BC137278;BC137280;BQ064719;BU686340;BX109122;CH471077;CR977683;NG_027868;NM_001164603;NM_015338 AAH33284;AAH64984;AAI00281;AAI37279;AAI37281;BAA76822;BAD00087;BAG53800;CAB55975;CAB56029;CAD27708;EAW76377;EAW76378;EAW76379;EAW76380;NP_001158075;NP_056153;Q8IXJ9 Hs.374043 1338523;1669210;1669523;1676660;1770049;1849384;2115904;2138730;2152509;2219012 A004G33;ASXL1_4386;D20S1023;D20S200;RH12044;RH64149;RH66092;RH92532;SHGC-37583;Z94311 BOPS;KIAA0978;MDS;MGC117280;MGC71111 OTTHUMP00000030592;OTTHUMP00000030593;OTTHUMP00000245206;additional sex combs-like protein 1;polycomb group protein ASXL1;putative Polycomb group protein ASXL1 APPROVED protein-coding ENSG00000171456 18318 16516 605039;612990;614286 REVIEWED 1312522 ATAD2 ATPase family, AAA domain containing 2 A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008] 8 8 8 q24.13 120520748 120596364 - 124401922 124477868 - 124332090 124408705 - 737633;6480464 12477932 19318566;17998543;17081983;15489334;15342556;15334068;15302935;14702039;16712791;18029348;20855524;19843847;20864510;22771493;20374707;23000965;22914773;22178446;19471022;21139048;21693764;21890473;21906983;22586326;21252943 29028 E5RHW7;E5RIP2;Q6PL18 ABBA01037873;ABBA01037874;AC021305;AF118088;AK097133;AL833653;AMYH01019004;AY598335;BC007123;BC010686;BC019909;BC112942;BC113656;BC143716;BP314109;CA441499;CB159561;CH471060;CR749832;NM_014109 AAF22032;AAH10686;AAH19909;AAI13657;AAT06746;ADZ15725;BAC04959;CAH18688;CAH56229;EAW92033;EAW92034;EAW92035;EAW92036;NP_054828;Q6PL18 Hs.370834 1650610;1676156;1676258;1740137;2148695;2170362 D8S1689;RH66014;RH77936;RH80934;RH80997;WI-20906 ANCCA;DKFZp667N1320;MGC131938;MGC142216;MGC29843;MGC5254;PRO2000 AAA nuclear coregulator cancer-associated protein;ATPase family AAA domain-containing protein 2;OTTHUMP00000228392;OTTHUMP00000228393 APPROVED protein-coding ENSG00000156802 30123 10678 611941 REVIEWED 1604011 ATAD2B ATPase family, AAA domain containing 2B The protein encoded by this gene belongs to the AAA ATPase family, CDC48 subfamily. This subfamily members in eukaryotes are involved in the budding and transfer of membrane from the transitional endoplasmic reticulum to the Golgi apparatus. The exact function of this protein is not known. [provided by RefSeq, May 2011] 2 2 2 p24.1-p23.3 23812998 23990337 - 23825038 24003438 - 23971534 24149936 - 6480464 14702039;12477932;10574462;9110174;8619474;8889548;21158754;22586326;23251661;23000965 54454 C9J1G9;C9JG15;H7BYF1;H7C475;Q9ULI0 AA767863;AB033066;ABBA01045093;ABBA01045094;ABBA01045095;ABBA01045096;AC009242;AC066692;AC079924;AF038204;AK094821;AK125718;AK131301;AMYH01010163;AMYH01010164;BC037408;BC071781;BC171846;BM974506;NG_029017;NM_001242338;NM_017552 AAH37408;BAA86554;BAC04429;BAD18469;BAG54237;NP_001229267;NP_060022;Q9ULI0 Hs.467862 1650303;1669806;1755215;1788620;5123951 RH126627;RH16288;SHGC-142120;SHGC-34850;WI-14281 KIAA1240;MGC88424 ATPase family AAA domain-containing protein 2B;OTTHUMP00000200738 APPROVED protein-coding ENSG00000119778 29230 615347 REVIEWED 1348719 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 7 7 7 q31.2 111811458 111875763 - 116790512 116854779 - 117003276 117067577 - 632725;1580863;6480464 12040005 15489334;15364959;14702039;12690205;12477932;11279520;21378990;21880841 136991 C9JP59;F8WDQ2;Q8WWH4 AACC02000001;ABBA01057800;AC002465;AF461259;AK093445;AMYH01017886;BC028695;BC034963;BC068488;BC098399;BC126186;BC126188;BC144207;BC144212;CH236947;CH471070;DB457846;HC006784;HC044669;NM_130768;NR_023315 AAH34963;AAI26187;AAI26189;AAI44213;AAL68815;ADR83190;BAC04167;CBH19198;CBH30664;EAL24354;EAW83526;EAW83527;EAW83528;NP_570124;Q8WWH4 Hs.352412 1337222;1340999;1719979;1799392;1805992;1806574;1806794;1807200;1807806;1808308;1809820;1810178;1810668;1813154;1815604;1815606;1816444;1817366;1817456;1817904;1818352;1818480;1818562;1821118;1821120;1821310;1821630;1822434;1825030;1827378;1828216;1828590;1829114;1829430;1831074;1831672;1832750;1834252;1834388;1834606;1836324;1839242;1839244;1840772;1841134;1844206;1844432;1846222;1846306;1846464;1985340;1985342;1985344;1985346;1985348;1985350;1985352;1985354;1985356;1985358;1985360;1985362;1985364;1985366;1985368;1985370;1985372;1985374;1985376;1985378;1985380;1985382;1985384;1985386;1985388;1985390;1985392;1985394;1985396;1985398;1985400;1985402;1985404;1985406;1985408;1985410;1985412;1985414;1985416;1985418;1985420;1985422;1985424;1985426;1985428;1985430;1985432;1985434;1985436;1985438;1985440;1985442;1985444;1985446;1985448;1985450;1985452;1985454;1985456;1985458;1985460;1985462;1985464;1985466;1985468;1985470;1985472;1985474;1985476;1985478;1985480;1985482;1985484;1985486;1985488;1985490;1985492;1985494;1985496;1985498;1985500;1985502;1985504;1985506;1985508;1985510;1985512;1985514;1985516;1985518;1985520;1985522;1985524;1985526;1985528;1985530;1985532;1985534;1985536;1985538;1985540;1985542;1985544;1985546;1985548;1985550;1985552;1985554;1985556;1985558;1985560;1985562;1985564;1985566;1985568;1985570;1985572;1985574;1985576;1985578;1985580;1985582;1985584;1985586;1985588;1985590;1985592;1985594;1985596;1985598;1985600;1985602;1985604;1985606;1985608;1985610;1985612;1985614;1985616;1985618;1985620;1985622;1985624;1985626;1985628;1985630;1985632;1985634;1985636;1985638;1985640;1985642;1985644;1985646;1985648;1985650;1985652;1985654;1985656;1985658;1985660;1985662;1985664;1985666;1985668;1985670;1985672;1985674;1985676;1985678;1985680;1985682;1985684;1985686;1985688;1985690;1985692;1985694;1985696;1985698;1985700;1985702;1985704;1985706;1985708;1985710;1985712;1985714;1985716;1985718;1985720;1985722;1985724;1985726;1985728;1985730;1985732;1985734;1985736;1985738;1985740;1985742;1985744;1985746;1985748;1985750;1985752;1985754;1985756;1985758;1985760;1985762;1985764;1985766;1985768;1985770;1985772;1985774;1985776;1985778;1985780;1985782;1985784;1985786;1985788;1985790;1985792;1985794;1985796;1985798;1985800;1985802;1985804;1985806;1985808;1985810;1985812;1985814;1985816;1985818;2094438;2094440;2094442;2094444;2094446;2094448;2094450;2094452;2094454;2094456;2094458;2094460;2094462;2094464;2094466;2094468;2094470;2094472;2094474;2094476;2094478;2094480;2094482;2094484;2094486;2094488;2094490;2094492;2094494;2094496;2094498;2094500;2094502;2094504;2094506;2094508;2094510;2094512;2094514;2094516;2094518;2094520 D6S409;D7S633;ECD00547;ECD03949;ECD04244;ECD04359;ECD04566;ECD04878;ECD05135;ECD05902;ECD06081;ECD06328;ECD07596;ECD08839;ECD08840;ECD09264;ECD09733;ECD09778;ECD10006;ECD10233;ECD10301;ECD10343;ECD11636;ECD11637;ECD11735;ECD11901;ECD12305;ECD13614;ECD14804;ECD15233;ECD15422;ECD15684;ECD15846;ECD16673;ECD16973;ECD17516;ECD18274;ECD18342;ECD18451;ECD19324;ECD20801;ECD20802;ECD21577;ECD21761;ECD23316;ECD23430;ECD24331;ECD24373;ECD24452;REN63571;REN63572;REN63573;REN63574;REN63575;REN63576;REN63577;REN63578;REN63579;REN63580;REN63581;REN63582;REN63583;REN63584;REN63585;REN63586;REN63587;REN63588;REN63589;REN63590;REN63591;REN63592;REN63593;REN63594;REN63595;REN63596;REN63597;REN63598;REN63599;REN63600;REN63601;REN63602;REN63603;REN63604;REN63605;REN63606;REN63607;REN63608;REN63609;REN63610;REN63611;REN63612;REN63613;REN63614;REN63615;REN63616;REN63617;REN63618;REN63619;REN63620;REN63621;REN63622;REN63623;REN63624;REN63625;REN63626;REN63627;REN63628;REN63629;REN63630;REN63631;REN63632;REN63633;REN63634;REN63635;REN63636;REN63637;REN63638;REN63639;REN63640;REN63641;REN63642;REN63643;REN63644;REN63645;REN63646;REN63647;REN63648;REN63649;REN63650;REN63651;REN63652;REN63653;REN63654;REN63655;REN63656;REN63657;REN63658;REN63659;REN63660;REN63661;REN63662;REN63663;REN63664;REN63665;REN63666;REN63667;REN63668;REN63669;REN63670;REN63671;REN63672;REN63673;REN63674;REN63675;REN63676;REN63677;REN63678;REN63679;REN63680;REN63681;REN63682;REN63683;REN63684;REN63685;REN63686;REN63687;REN63688;REN63689;REN63690;REN63691;REN63692;REN63693;REN63694;REN63695;REN63696;REN63697;REN63698;REN63699;REN63700;REN63701;REN63702;REN63703;REN63704;REN63705;REN63706;REN63707;REN63708;REN63709;REN63710;REN63711;REN63712;REN63713;REN63714;REN63715;REN63716;REN63717;REN63718;REN63719;REN63720;REN63721;REN63722;REN63723;REN63724;REN63725;REN63726;REN63727;REN63728;REN63729;REN63730;REN63731;REN63732;REN63733;REN63734;REN63735;REN63736;REN63737;REN63738;REN63739;REN63740;REN63741;REN63742;REN63743;REN63744;REN63745;REN63746;REN63747;REN63748;REN63749;REN63750;REN63751;REN63752;REN63753;REN63754;REN63755;REN63756;REN63757;REN63758;REN63759;REN63760;REN63761;REN63762;REN63763;REN63764;REN63765;REN63766;REN63767;REN63768;REN63769;REN63770;REN63771;REN63772;REN63773;REN63774;REN63775;REN63776;REN63777;REN63778;REN63779;REN63780;REN63781;REN63782;REN63783;REN63784;REN63785;REN63786;REN63787;REN63788;REN63789;REN63790;REN63791;REN63792;REN63793;REN63794;REN63795;REN63796;REN63797;REN63798;REN63799;REN63800;REN63801;REN63802;REN63803;REN63804;REN63805;REN63806;REN63807;REN63808;REN63809;REN63810;RH123968;stSG598599;stSG598600;stSG598601;stSG598602;stSG598603;stSG598604;stSG598605;stSG598606;stSG598607;stSG598608;stSG598609;stSG598610;stSG598611;stSG598612;stSG598613;stSG598614;stSG598615;stSG598616;stSG598617;stSG598618;stSG598619;stSG598620;stSG598621;stSG598622;stSG598623;stSG598624;stSG598625;stSG598628;stSG598629;stSG598631;stSG598632;stSG598633;stSG598634;stSG598635;stSG598636;stSG598637;stSG598638;stSG598639;stSG598640;stSG598641;stSG598642;stSG598643 ALP1;ANKL1;C7orf7;CT1.19;GASZ;MGC26634;Orf3 4933400N19Rik;OTTHUMP00000069161;ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1;ankyrin-like 1;ankyrin-like protein 1;germ cell-specific ankyrin, SAM and basic leucine zipper domain-containing protein protein-coding ENSG00000154438 1350 10677 605797 VALIDATED 1351713 ATD asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) 7240710 7702088 465 780 1347003 ATAD3B ATPase family, AAA domain containing 3B ATAD3A (MIM 612316) and ATAD3B are mitochondrial membrane proteins that contribute to the stabilization of large mitochondrial DNA (mtDNA)-protein complexes called nucleoids (He et al., 2007 [PubMed 17210950]).[supplied by OMIM, Sep 2008] 1 1 1 p36.33 1147640 1172191 - 1397027 1421445 + 1407164 1431582 + 737633;6480464 12477932 18639545;17210950;16909202;16710414;15489334;14702039;10574462;17353931;21145461;17148452;19615732;20877624;19913121;19156129;19167051;20186120;20473970;19596686;20360068;21906983;22192748;18729074;19380743;22190034;22664726;22797925 83858 A6NFL3;Q5T9A4 AB033099;ABBA01016047;AF343078;AK024028;AK127857;AK290586;AL157945;AL645728;AL834179;AMYH01000134;AMYH01000135;AMYH01000136;BC002542;BC009938;BC018701;BQ954571;CH471183;NM_031921 AAH02542;AAH18701;AAK38647;BAA86587;BAB14787;BAF83275;CAD38876;EAW56192;EAW56193;EAW56194;NP_114127;Q5T9A4 Hs.729021 2107865;2112394;5015619;5020948;5037552;5109281 ATAD3B_8108;D11S3114;D1S1425;D1S3674;D8S2279;G35510 AAA-TOB3;KIAA1273;TOB3 AAA-ATPase TOB3;ATPase family AAA domain-containing protein 3B;OTTHUMP00000000600 APPROVED protein-coding ENSG00000160072 24007 10679 612317 PROVISIONAL 1314304 ATAD3A ATPase family, AAA domain containing 3A ATAD3A and ATAD3B (MIM 612317) are mitochondrial membrane proteins that contribute to the stabilization of large mitochondrial DNA (mtDNA)-protein complexes called nucleoids (He et al., 2007 [PubMed 17210950]).[supplied by OMIM, Sep 2008] 1 1 p36.33 1437418 1459927 + 1447523 1470067 + 737633;6480464 12477932 21584487;17353931;21145461;22542587;18639545;18063578;17210950;16710414;15489334;14702039;20332122;20349121;16344560;17148452;19041431;20154147;20351179;20877624;22318359;16055720;21182205;19156129;21743956;20360068;21987572;21139048;21890473;21906983;22192748;21907836;20473970;21628590;19531213;22586326;23182705;22190034;22664726 55210 H0Y2W2;Q5SV16;Q9NVI7 ABBA01016051;ABBA01016052;AK001571;AK025865;AK056099;AK091144;AK092833;AK310572;AL645728;AMYH01000136;AMYH01000137;AMYH01000138;AMYH01000139;AMYH01000140;BC007803;BC011814;BC014101;BC033109;BC063607;CH471183;DA206969;GU189416;NM_001170535;NM_001170536;NM_018188 AAH07803;AAH11814;AAH14101;AAH33109;AAH63607;ACZ80514;BAA91764;BAC03595;BAG51625;EAW56186;EAW56187;EAW56188;EAW56189;EAW56190;EAW56191;NP_001164006;NP_001164007;NP_060658;Q9NVI7 Hs.23413 2107865;2112394;2150645 ATAD3B_8108;D1S3674;SHGC-74117 FLJ10709;FLJ35514 ATPase family AAA domain-containing protein 3A;OTTHUMP00000000594;OTTHUMP00000000595;OTTHUMP00000000596 APPROVED protein-coding ENSG00000197785 25567 12500 612316 VALIDATED 1604719 ATAD3C ATPase family, AAA domain containing 3C 1 1 1 p36.33 1173817 1194284 - 1387910 1395401 + 1385069 1405538 + 14702039;12477932;22192748 219293 J3QSF3;Q5T2N8 ABBA01016045;ABBA01016046;ABBA01016047;AK074653;AK091918;AK094502;AL157945;AL391244;AMYH01000133;AMYH01000134;BC101211;BC101212;NM_001039211 AAI01212;AAI01213;BAC04369;NP_001034300;Q5T2N8 Hs.724767 5015861;5015881;5015961;5021872;5022651;7185938 D10S16;D11S2921;D15S1477;GDB:335751;sY3084 FLJ34599;FLJ37183 ATPase family AAA domain-containing protein 3C;ATPase family, AAA domain containing 3A;OTTHUMP00000000561 protein-coding ENSG00000215915 32151 13426 VALIDATED 3539572 ATF1P1 activating transcription factor 1 pseudogene 1 6 6 6 q16.1 94017738 94018529 - 93653706 93654903 - 93596985 93597776 - 100128159 ABBA01040577;AL356956;AMYH01016515;NG_016455 1786008 SHGC-154984 pseudo 37691 INFERRED 1347627 ATAT1 alpha tubulin acetyltransferase 1 6 6 6 p21.33 32192731 32212715 + 30702632 30722577 + 30594613 30614598 + 6480464 16344560;14702039;12477932;20829795;19851445;8125298;21832049;23071314;23071318 79969 Q86X42;Q8TAV6 AB075512;ABBA01038051;AK023220;AK225107;AK297661;AK298743;AL535697;AL662800;AL732442;AL833858;AL845353;AMYH01016205;BC006105;BC025755;BC047303;BX119957;BX418089;BX418559;BX442806;BX908728;CH471081;CR753328;CR759778;CX786272;DB090032;NM_001031722;NM_001254952;NM_024909 AAH06105;AAH25755;AAH47303;BAB14472;BAE45758;BAH12643;BAH12864;CAD38717;EAX03306;EAX03307;EAX03308;EAX03309;NP_001026892;NP_001241881;NP_079185;Q5SQI0 Hs.654798 1666547;1677824;1685379;1697858;1729179;1776546;1786124;2189615 C4_2_25;D6S1149E;RH102456;RH68972;RH8148;RH98618;SHGC-172547;UniSTS:146572 C6orf134;DKFZp547J097;FLJ13158;MEC17;Nbla00487;TAT OTTHUMP00000029316;OTTHUMP00000029318;OTTHUMP00000029319;OTTHUMP00000163694;OTTHUMP00000163695;OTTHUMP00000163696;acetyltransferase MEC-17;acetyltransferase mec-17 homolog;alpha-TAT;alpha-tubulin N-acetyltransferase;hypothetical protein LOC79969 APPROVED protein-coding ENSG00000137343 21186 12850 VALIDATED 1605345 ATAD5 ATPase family, AAA domain containing 5 17 17 17 q11.2 26081154 26143209 + 26183146 26246421 + 29159020 29222295 + 6480464 19291764;18391951;17632510;15983387;14702039;12477932;11468690;10843809;20546612;19755857;20379614;20147293;21640107;21896657;21901109;19471022;21555454;21693764;21906983;22318606;20881960;23277426 79915 Q96QE3 ABBA01014979;ABBA01014980;ABBA01014981;ABBA01014982;ABBA01014983;ABBA01014984;ABBA01014985;AC127024;AC130324;AJ314648;AK022797;AL832103;AMYH01008317;AMYH01008318;AY557611;BC015051;NM_024857 AAH15051;AAI48344;AAT52049;BAB14248;CAC44537;CAH10412;NP_079133;Q96QE3 Hs.528902 1753469;1768628;2155173 RH44898;SHGC-107412;SHGC-33441 C17orf41;ELG1;FLJ12735;FRAG1 ATPase family AAA domain-containing protein 5;OTTHUMP00000163682;chromosome fragility associated gene 1;chromosome fragility-associated gene 1 protein;enhanced level of genomic instability 1 homolog protein-coding ENSG00000176208 25752 07792 609534 PROVISIONAL 1353507 ATF4P1 activating transcription factor 4 pseudogene 1 X X q28 153968835 153970275 + 153850591 153852031 - 11709543;11410370;8088803 469 ABBA01029065;AC244107;AF277315;AMYH01023318;NG_001080;U03712 1813312;1827662;2102696;2102698;2102700;2102740;2102742 ECD07676;ECD14951;stSG604158;stSG604159;stSG604160;stSG604188;stSG604189 ATF4P;TAXREB67P;TXREBP activating transcription factor 4 pseudogene (tax-responsive enhancer element b67 pseudogene);uncharacterized protein LOC643894 pseudo 789 INFERRED 2291806 ATF4P2 activating transcription factor 4 pseudogene 2 X X X q28 153968835 153970275 + 153462002 153463637 + 153808909 153810349 + 11709543;11410370;8088803 340600 AC244090;AF277315;AMYH01023318;NG_002951 1813312;1827662;2102696;2102698;2102700;2102740;2102742 ECD07676;ECD14951;stSG604158;stSG604159;stSG604160;stSG604188;stSG604189 pseudo 34025 INFERRED 1352172 ATF4P3 activating transcription factor 4 pseudogene 3 17 17 17 q25.1 70815673 70817094 - 71733331 71734770 - 74221746 74223167 - 10610718 643159 ABBA01028754;AC015801;AMYH01008639;NG_009319 1776635 RH71390 ATF4C APPROVED pseudo 788 INFERRED 1344419 ATF4P4 activating transcription factor 4 pseudogene 4 11 11 11 q23.2 110813721 110815056 + 113165967 113167719 + 113660840 113662175 + 10610718 100127952 ABBA01039782;AMYH01004039;AP003170;NG_021835 ATF4B APPROVED pseudo 787 INFERRED 1319593 ATCAY ataxia, cerebellar, Cayman type This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 3818196 3865544 + 3831639 3879080 + 3880618 3928080 + 1599351;1599348;5133436;6480464;7240710 17092653;14556008;16246457 16275660;19165527;16344560;15489334;14702039;12477932;11347906;8845847;19861499;17207965;16899818;21832049;23226316;21782286 85300 B4DS11;M0R197;M0R225;Q86WG3 AB058775;ABBA01002852;ABBA01002853;ABBA01002854;ABBA01002855;ABBA01002856;ABBA01002857;AC011488;AK027889;AK092309;AK125457;AK299522;AMYH01009319;AY220297;BC008736;BC014884;BC026217;BF516378;BX505461;CH471139;DA151785;DA778097;NG_012638;NM_033064 AAH26217;AAO63019;ADQ32311;BAB47501;BAC03859;BAG54199;BAG61473;EAW69280;NP_149053;Q86WG3 Hs.418055 5015861;5016478;5020946;5022383;5022450;5022578;5022651;5037552;5109281;7185938 D10S16;D10S275;D11S2921;D1S1423;D1S1425;D8S2279;ECD04345;GDB:434012;L17971 BNIP-H;CLAC;KIAA1872 BNIP-2-homolgy;BNIP-2-homology;Cayman ataxia;ataxia cayman type protein;caytaxin APPROVED protein-coding ENSG00000167654 779 10491 601238;608179 REVIEWED 1319626 ATE1 arginyltransferase 1 This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-terminal aspartate or glutamate targets proteins for ubiquitin-dependent degradation. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 10 10 10 q26.13 117234468 117419505 - 123492615 123677536 - 123502625 123687546 - 1580863;6480464 9858543;16943202;16002466;15489334;14702039;12477932;16385451;19615732;20379614;21263130;22863883;21139048;21906983 11101 B3KWA3;B4DK25;B4E107;F5GXE4;H0Y5C2;O95260;Q5SQQ1 ABBA01062855;ABBA01062856;ABBA01062857;ABBA01062858;ABBA01062859;ABBA01062860;ABBA01062861;ABBA01062862;AC025947;AF079098;AF079099;AK124669;AK292657;AK295642;AK296356;AK299101;AK303604;AK308926;AK313057;AL731542;AL731566;AMYH01003130;AMYH01003131;BC022026;CH471066;NM_001001976;NM_007041 AAD12366;AAD12367;AAH22026;ABM83018;ABM86211;BAF85346;BAG35887;BAG54065;BAG58513;BAG59037;BAG61160;BAG64619;EAW49334;EAW49335;EAW49336;NP_001001976;NP_008972;O95260 Hs.632080 1703194;1713247;1720927;1777679;2108703;2184536;2184538 ATE1_9219;G59293;RH120614;RH44797;SGC32262;SHGC-36497;STS-AA011535 MGC26724 OTTHUMP00000020637;OTTHUMP00000020638;R-transferase 1;arginine-tRNA--protein transferase 1;arginyl-tRNA--protein transferase 1;arginyl-tRNA-protein transferase APPROVED protein-coding ENSG00000107669 782 06979 607103 REVIEWED 732287 ATF2 activating transcription factor 2 This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. It forms a homodimer or a heterodimer with c-Jun and stimulates CRE-dependent transcription. This protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] 2 2 q32 175647252 175741143 - 175936978 176032934 - 704409;1580863;6480464;5135029;6484113;6907045 11125071;21641970 10909971;2529117;8798441;9030721;10878576;19453261;19331149;19278424;19184334;19176525;19082758;18700251;18677098;18671972;18547788;18397884;18348191;18077426;17869487;17681939;17626013;17337306;17258390;17244683;17082618;17081983;17054722;16896160;16869889;16418168;16344560;16049073;15916964;15878807;15691875;15304344;15302935;14988408;14734562;14678960;14630918;12833146;12805554;12788955;16456540;12592382;12477932;12270648;12200150;12110590;11932306;11836564;11713276;11259586;11231009;10821277;10567391;10357819;10327051;10085140;9920921;9873047;9748258;9685505;9671405;9628874;9524124;9488727;9445037;9207191;9139739;9058782;8628277;8440710;7737130;7737129;7535770;2521922;2320002;1838349;1833307;1828107;1827203;1641004;602896;16179804;18307971;8027667;11279118;9405416;9207092;12244047;9786917;15692053;9155018;11566021;7769693;9235954;12663670;19913121;20628086;10393177;11302752;15105425;16511568;16533805;17254968;18029348;19135240;19487697;19712049;19822663;19923798;19944700;20116378;20379614;20507983;10066798;20051382;20211142;20619956;20581861;20675274;15276183;16303757;21098032;18396163;21203491;9659924;21384452;20498639;21278380;20398657;17296604;20213747;21832049;22685333;8654373;19861239;10207054;12958075;21858082;21565167;21890473;21990224;22304920;21444723;21901137;22275354;22351776;7774816;9110174;10708586;12804775;12874243;9162092;20068037;22843696;9399639 1386 A4D7V5;B3KY57;B8ZZU6;C9JCI8;E9PBF9;E9PEK8;F2Z2K2;F5H629;H7C2N6;Q3B7B7;Q96JT8 ABBA01062202;ABBA01062203;ABBA01062204;AC007435;AC074291;AC096649;AC131958;AF283776;AI200584;AK128731;AL050192;AMYH01011284;AMYH01011285;AMYH01011286;AY029364;BC026175;BC107698;BC130335;BC130337;BX648469;CH471058;DA995464;DQ003036;DQ003037;DQ003038;DQ003039;DQ003040;DQ003041;DQ003042;DQ003043;DQ003044;DQ003045;DQ003046;DQ003047;DQ003048;DQ003049;M31630;NM_001256090;NM_001256091;NM_001256092;NM_001256093;NM_001256094;NM_001880;NR_045768;NR_045769;NR_045770;NR_045771;NR_045772;NR_045773;NR_045774;X15875 AAA35951;AAH26175;AAI07699;AAI30336;AAI30338;AAK55760;AAX88876;AAY15004;AAY17202;AAY17203;AAY17204;AAY17205;AAY17206;AAY17207;AAY17208;AAY17209;AAY17210;AAY17211;AAY17212;AAY17213;AAY17214;AAY17215;ADR83024;BAG54719;CAA33886;EAX11109;EAX11110;EAX11111;EAX11112;EAX11113;NP_001243019;NP_001243020;NP_001243021;NP_001243022;NP_001243023;NP_001871;P15336 Hs.592510 1668093;1680090;1682489;2106955;2126323;2160189;5126545 ATF2_7769;RH80244;RH80902;SGC38090;SHGC-31988;SHGC-33561;WI-18856 CRE-BP1;CREB2;HB16;MGC111558;TREB7 CREB-2;OTTHUMP00000163262;OTTHUMP00000205344;OTTHUMP00000205345;OTTHUMP00000205347;OTTHUMP00000205348;OTTHUMP00000205350;OTTHUMP00000205352;OTTHUMP00000205353;OTTHUMP00000205354;activating transcription factor 2 splice variant ATF2-var2;cAMP response element-binding protein CRE-BP1;cAMP responsive element binding protein 2, formerly;cAMP-dependent transcription factor ATF-2;cAMP-responsive element-binding protein 2;cyclic AMP-dependent transcription factor ATF-2;cyclic AMP-responsive element-binding protein 2;ratf2 APPROVED protein-coding ENSG00000115966 784 00443 123811 REVIEWED 1316513 ATF1 activating transcription factor 1 This gene encodes an activating transcription factor, which belongs to the ATF subfamily and bZIP (basic-region leucine zipper) family. It influences cellular physiologic processes by regulating the expression of downstream target genes, which are related to growth, survival, and other cellular activities. This protein is phosphorylated at serine 63 in its kinase-inducible domain by serine/threonine kinases, cAMP-dependent protein kinase A, calmodulin-dependent protein kinase I/II, mitogen- and stress-activated protein kinase and cyclin-dependent kinase 3 (cdk-3). Its phosphorylation enhances its transactivation and transcriptional activities, and enhances cell transformation. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in angiomatoid fibrous histiocytoma and clear cell sarcoma. This gene has a pseudogene on chromosome 6. [provided by RefSeq, Aug 2010] 12 12 q13 49444086 49501174 + 51157789 51214943 + 1580863;2316104;6480464 19924104 2196176;8401579;8798441;18950845;18794154;17565989;16716376;16344560;16327442;16227528;15884099;15489334;15041276;14767471;12805554;12760902;12748173;12734209;12631284;12527906;12477932;12444143;12391222;12195699;11992546;11909979;11877423;11018520;11014230;10945975;10585419;10567391;9824209;9685505;9671480;9016641;8889548;8663317;8621702;8570175;8384217;7730336;2516827;1655749;15806162;19561568;19950226;20453000;20413592;15276183;20536573;19714462;19913121;20628086;20945072;20972440;20398657;22939629;21484932;22505724;22631637;21890473;21963094;22052915;22510762;21658281 466 AAB25878;B4DRF9;F8VRN2;F8VS03;F8VYE5;F8VYN3;P18846 ABBA01031587;ABBA01031588;AC013244;AK299240;AK313406;AMYH01004458;BC029619;BG502726;BG545632;BG611151;BG611861;BI712653;BU682151;BX102171;CH471111;DA468394;NG_027673;NM_005171;X55544 AAB25878;AAH29619;ABZ91993;ABZ92155;BAG36201;BAG61271;CAA39150;EAW58151;NP_005162;P18846 Hs.648565 1698538;1768662;1848419;2138157;2218262;5093150 A009H30;ATF1_4332;G32549;RH102820;RH44890;RH71282 EWS-ATF1;FUS/ATF-1;TREB36 OTTHUMP00000241242;OTTHUMP00000241244;cAMP-dependent transcription factor ATF-1;cyclic AMP-dependent transcription factor ATF-1 APPROVED protein-coding ENSG00000123268 783 00440 123803 REVIEWED 735760 ATF3 activating transcription factor 3 This gene encodes a member of the mammalian activation transcription factor/cAMP responsive element-binding (CREB) protein family of transcription factors. This gene is induced by a variety of signals, including many of those encountered by cancer cells, and is involved in the complex process of cellular stress response. Multiple transcript variants encoding different isoforms have been found for this gene. It is possible that alternative splicing of this gene may be physiologically important in the regulation of target genes. [provided by RefSeq, Apr 2011] 1 1 q32.3 210805320 210860740 + 212738676 212794119 + 1580863;2302137;6480464;5143919 16322555;18061509 22347845;17042743;20360311;21454613;22665497;21414204;18255255;7515060;18029348;19219066;19136462;19060337;18922905;18802113;18755691;18692824;18426833;18235102;18192274;18001166;17952119;17599613;17437852;17295236;17178897;17102133;17014422;16989641;16912181;16613840;16484797;16344560;16306208;16286461;16263788;16109718;16079301;15670751;15489334;15385533;15280448;14759258;14702039;14667575;12881527;12833146;12805554;12718878;12477932;12392999;12386811;12372430;12161427;12034827;11792711;11726207;11375399;8649793;8622660;8576171;8152431;7692236;2516827;11810028;19164757;1827203;16169070;15933712;21467165;20413626;20581861;16291753;19582787;20167600;20180416;20215396;20351107;20423458;20304822;20485437;20696134;21324310;22485215;14673171;20002170;20211142;20930144;19913121;20628086;22991139;21191795;21451046;21294679;21061913;21129190;22978410;23088992;23002211;21315420;21495874;21514952;21554132;21593605;21629765;21645504;21668942;21801305;21821004;21844328;21900211;20110283;21300803;21986529;20398657;19932681;19050264;22764884;22851689;22989952;19647793;20592017;21421043;22179317;21139048;21693764;21906983;22046379;21927023;22475484;22753726;22939624;23455924;2366175;22768301 467 P18847;Q5VTZ4 AB066566;AB078026;AB078027;AB078028;AB209032;ABBA01048167;ABBA01048168;AC092803;AI492228;AI949953;AK123699;AK125255;AK294296;AK312998;AL560585;AL590648;AL606913;AMYH01001707;AMYH01001708;AU135799;AY313926;AY313927;AY426987;BC006322;BI524020;BI819383;BT006996;CD638624;CD641946;CD742713;CH471100;CR450334;DA589280;DA691940;DB197400;L19871;NG_029871;NM_001030287;NM_001040619;NM_001206484;NM_001206486;NM_001206488;NM_001674;U37542 AAA20506;AAH06322;AAP35642;AAP93895;AAP93896;AAQ93358;ABM83649;ABM86898;BAB84092;BAC00495;BAC00496;BAC05510;BAD92269;BAG35834;BAG57579;CAG29330;EAW93383;EAW93384;EAW93385;EAW93386;EAW93387;EAW93388;NP_001025458;NP_001035709;NP_001193413;NP_001193415;NP_001193417;NP_001665;P18847 Hs.460 1341238;1674063;1676656;1791606;2126211;2129636;2145348;5023244 AL009578;D1S1667;D1S3565;PMC117192P1;RH17630;RH69028;SHGC-12563;SHGC-76330 FLJ41705 ATF3deltaZip2;ATF3deltaZip2c;ATF3deltaZip3;OTTHUMP00000034887;OTTHUMP00000034888;OTTHUMP00000034890;OTTHUMP00000038593;OTTHUMP00000038594;cAMP-dependent transcription factor ATF-3;cyclic AMP-dependent transcription factor ATF-3 APPROVED protein-coding ENSG00000162772 785 04395 603148 REVIEWED 733712 ATF4 activating transcription factor 4 This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromosome at q28 in a region containing a large inverted duplication. [provided by RefSeq, Sep 2011] 22 22 q13.1 38246515 38248637 + 39916569 39918691 + 1580863;734979;6480464;6907045 10096021 21966512;22435535;15461802;15385533;14747470;14695168;14630918;14561767;12860379;12812986;12805554;12743605;12477932;11274184;11087824;11025215;11018027;10591208;10419887;9488481;9295363;8939898;2516827;1847461;1827203;1534408;1371974;18276110;19164757;15475356;16169070;14623284;11960987;9190894;12689582;15788408;15314157;19453261;19417138;19251251;19193809;19114033;19073601;19017641;18940792;18697751;18635891;18451308;18408768;18195013;18189280;18171674;18163433;17996332;17938202;17822787;17707795;17684156;17369260;17347301;17346882;16687408;16682973;16219772;16189514;15677469;15489334;15775988;20936779;16343488;19061639;19509279;19855386;19946894;20022965;20185790;20473272;20551969;20592469;20514020;20724472;20732869;20211142;20564243;21044953;17042743;17726049;21087962;16751776;21832049;23153536;11238952;21203563;21244365;19922526;21706477;22915762;22955275;18255255;20398657;21113145;21683813;22082360;21801305;22017875;22050711;22485215;19447967;21963094;21988832;22848420;23392669;23001845;21693764;21906983;21951999;22007000;22016052;21866569;22246806;22052162;22233381;22363646;22338651;18052253;19053519;22422769;23128233;23078367;23205607;23241898;23090478;23242184;23471465;22813743;23339444;2366175;22691366 468 P18848;Q96AQ3 ABBA01055574;AK057751;AK296028;AL022312;AMYH01012779;BC008090;BC011994;BC016855;BC022088;BC024775;BC044895;BC073754;BC073990;CH471095;CR450353;CR456384;D90209;M86842;NM_001675;NM_182810 AAA52071;AAH08090;AAH11994;AAH16855;AAH22088;AAH24775;AAH44895;AAH73754;AAH73990;ABM82684;ABM85868;BAA14234;BAG58796;CAG29349;CAG30270;CAK54373;CAK54672;EAW60341;EAW60342;NP_001666;NP_877962;P18848 Hs.496487 1776635;1792878;2158482;2218264;5113387 ATF4_4333;PMC166200P2;RH48164;RH71390;RH79684 CREB-2;CREB2;TAXREB67;TXREB DNA-binding protein TAXREB67;OTTHUMP00000199130;OTTHUMP00000199131;activating transcription factor atf-4;cAMP response element-binding protein 2;cAMP-dependent transcription factor ATF-4;cAMP-responsive element-binding protein 2;cyclic AMP-dependent transcription factor ATF-4;cyclic AMP-responsive element-binding protein 2;tax-responsive enhancer element B67;tax-responsive enhancer element-binding protein 67 APPROVED protein-coding ENSG00000128272 786 06817 604064 REVIEWED 1346168 ATF6B activating transcription factor 6 beta The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 6 6 p21.3 32191016 32203995 - 32083045 32096017 - 1580863;6480464;6907045 8586413;8870652;14973138;14702039;14656967;14574404;12782636;12477932;11256944;11163209;11158310;10644760;8923003;7686164;12445808;19913121;20628086;19693772;19851445;21139048;21693764;18029348 1388 H0Y7D7;Q6AZW6;Q9H3V9 ABBA01038104;AK000928;AL049547;AL662828;AL662884;AMYH01016232;BC008394;BC077075;BT007042;CH471081;CR753803;CR925796;NM_001136153;NM_004381;U31903;U52693;U52694;U52696;U52701;U89337;X98053;X98054 AAA97438;AAB47487;AAG14898;AAG14900;AAH08394;AAH77075;AAP35691;CAA66663;CAA66664;CAB89295;EAX03581;EAX03582;EAX03583;EAX03584;EAX03585;NP_001129625;NP_004372;Q99941 Hs.42853 1687938;1788596;2114344;2137972;2140482;2189367;2218436;5014051;5015619;5016478;5037552 CREBL1_4188;D11S3114;D8S2278;D8S2279;GDB:434012;MARC2535-2536;MARC_2920-2921:991933729:7;RH46843;RH92380;STS-N24775;STS-X98054 CREB-RP;CREBL1;FLJ10066;G13 ATF6-beta;Creb-related protein;OTTHUMP00000029432;OTTHUMP00000029433;cAMP response element-binding protein-related protein;cAMP responsive element binding protein-like 1;cAMP-dependent transcription factor ATF-6 beta;cAMP-responsive element-binding protein-like 1;cyclic AMP-dependent transcription factor ATF-6 beta;protein G13 APPROVED protein-coding ENSG00000213676 2349 02992 600984 REVIEWED 1312669 ATF7 activating transcription factor 7 12 12 q13 52196026 52306403 - 53901640 54020199 - 1580863;6480464 1694576;18029348;18950637;17081983;16344560;15735663;15342556;14643450;12805554;12477932;11278933;10698518;8939888;8889548;8649858;8288576;18671972;7769693;15867431;20189936;17264123;10376527;22939629;16147992;21858082;21693764;19471022;21998595;22242598 11016 F8VWG7;K7EKZ7;K7ESA4;P17544 AA679547;ABBA01008343;ABBA01008344;ABBA01008345;ABBA01008346;ABBA01008347;ABBA01008348;ABBA01008349;AC023509;AC073594;AK298853;AK302907;AK310355;AK313507;AMYH01004482;BC032433;BC042363;BC136302;BC140006;BP279417;BP312300;BQ184780;CH471054;DB047160;DB490927;NM_001130060;NM_001206682;NM_001206683;NM_006856;NR_073163;X52943;X57197 AAH42363;AAI36303;AAI40007;BAG36287;BAG60976;BAG64077;CAA37118;CAA40483;EAW96723;EAW96724;NP_001123532;NP_001193611;NP_001193612;NP_006847;P17544 Hs.12286;Hs.633602 1649597;1663627;1698130;1733546;1733552;1768539;1770269;1852420;2107793;2110161;2127255 D12S884;D12S887;MARC_34356-34357:1062684397:1;RH102598;RH18103;RH44962;SHGC-57261;STS-R37637;STS-R96214;WI-8969;st305c11-8a10 ATFA;MGC57182 OTTHUMP00000242069;OTTHUMP00000242319;cAMP-dependent transcription factor ATF-7;cyclic AMP-dependent transcription factor ATF-7;transcription factor ATF-A protein-coding ENSG00000170653 792 06968 606371 VALIDATED 6481023 ATG10-IT1 ATG10 intronic transcript 1 (non-protein coding) 100874311 AC114969 miscrna 41455 6481370 ATG10-AS1 ATG10 antisense RNA 1 100874022 AC114969 APPROVED miscrna 40914 4888931 ATG12P2 autophagy related 12 pseudogene 2 2 2 217532130 217535532 - 223766382 223769777 - 9847074 100293948 ABBA01023806;AC013476;AMYH01011523;NG_016651 2144811 A008B44 APPROVED pseudo 38605 INFERRED 2293247 ATG12P1 autophagy related 12 pseudogene 1 17 17 17 q25.1 67646673 67647431 - 71063684 71064442 - 71063684 71064442 - 20723759 100151642 ABBA01028877;AC025198;AMYH01008613;NG_007656 1686130 RH91208 ATG12P APPROVED pseudo 21466 INFERRED 1350993 ATF5 activating transcription factor 5 19 19 q13.3 55124272 55129003 + 50431959 50437193 + 1580863;6480464 10373550;19285020;19251251;18832568;18701499;18458088;18332083;18195013;18055463;17346882;16344560;16300731;16170340;16164412;15890932;15489334;15358120;15221005;14702039;12812986;12477932;11278933;11087824;1371974;22442021;18276110;19531563;20379614;21212266;20423929;15342556;8889548;18029348;21521685;23018213;2366175;21791614;21972289;22528486;21988832;23275563 22809 M0QZD2;M0R040;M0R0D5;Q9Y2D1 AB021663;AB073613;ABBA01032907;AC011452;AF101388;AF305687;AK024402;AK091985;AK290592;AMYH01009919;AMYH01009920;BC005174;BF528888;BM462249;BP378116;BU187153;BU730542;CH471177;DA251296;DA684664;NG_021170;NG_023448;NM_001193646;NM_012068 AAD28370;AAG22558;AAH05174;BAA78477;BAD38650;BAF83281;BAG51295;EAW52581;EAW52582;EAW52583;NP_001180575;NP_036200;Q9Y2D1 Hs.9754 1681217;2129143 D19S669E;RH79668 ATFX;FLJ34666;HMFN0395 cAMP-dependent transcription factor ATF-5;cyclic AMP-dependent transcription factor ATF-5;transcription factor ATFx 1643251 BW139_H protein-coding ENSG00000169136 790 05906 606398 VALIDATED 1313517 ATF6 activating transcription factor 6 This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011] 1 1 q22-q23 160002708 160195476 + 161736034 161933860 + 1580863;6480464;6907045 9271374;10866666;10564271;9837962;19420237;19304306;19122331;18840095;18650380;18635891;18022401;17686766;17522056;17442311;17440018;17327457;17101776;17092596;16710414;16505252;15598891;15489334;15299016;15063770;14765107;14699159;12949534;12805554;12782636;12713871;12477932;12097557;12076252;12014989;11909875;11821395;11805088;11483355;11287625;11256944;11163209;11158310;2516827;21521793;19913121;20628086;16469704;19667116;19693772;19722195;19723703;19772629;19822759;20800603;20219975;20936779;21211013;15342556;21131360;21150130;21329801;21329806;21345978;21355074;21454619;21809331;8889548;15899857;21106748;22146569;21832049;22917505;23011799;21385877;22956602;20732420;16196087;20160352;21841196;21693764;21906983;22013072;22102412;22577136;22354938;21963094;21988832;22872700;19816510;23382691;23037953;2366175 22926 A8K383;P18850 AB015856;AB208929;ABBA01047311;ABBA01047312;ABBA01047313;AF005887;AF088035;AK025316;AK290498;AL359541;AL391825;AL450995;AMYH01001463;BC014969;BC071997;BM683233;BP380917;BX538263;CH471067;NG_029773;NM_007348 AAB64434;AAH14969;AAH71997;AAI66676;BAA34722;BAD92166;BAF83187;EAW90694;NP_031374;P18850 Hs.492740;Hs.617868 1653170;1675249;1693110;1770481;1771808;1992856;2116438;2122251;2151408;2176322;5014051;5015619;5021872;5022200;5037552;5109281 AL034282;D11S3114;D1S1425;D8S2278;D8S2279;G16275;L18426;REN67335;RH68768;RH69585;RH69812;RH78635;SHGC-32839;STS-H29771;WI-13539;sY3084 ATF6A;DKFZp686P2194;FLJ21663 ATF6-alpha;OTTHUMP00000025585;activating transcription factor 6 alpha;cAMP-dependent transcription factor ATF-6 alpha;cyclic AMP-dependent transcription factor ATF-6 alpha APPROVED protein-coding ENSG00000118217 791 16118 605537 REVIEWED 1314412 ATF7IP activating transcription factor 7 interacting protein ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010] 12 12 12 p13.1 19663702 19796793 + 14409878 14542964 + 14518611 14651697 + 6480464 12665582;19106100;18842587;17081983;16757475;16314315;15691849;15489334;15231748;14702039;14536086;12812986;12659632;12477932;10976766;10777215;18029348;20543847;19394292;20936779;22939629;20549333;21987572;19471022;21139048;21693764;21890473;21906983;21963094;21988832;23000965;23359319 55729 A8MV73;B3KNI7;B3KQF8;F5GX74;F5GYR7;F5GZ10;F5GZ98;F5H1K9;F5H221;F5H2H9;F5H2W9;F5H3C4;F5H502;F5H592;F5H6X8;F5H8I0;F8WE35;G3V1U0;H0YFA3;Q6VMQ6 ABBA01067875;ABBA01067876;ABBA01067877;AC007782;AC008114;AC124892;AF425650;AJ242978;AK001001;AK001550;AK021569;AK025060;AK027575;AK074868;AK299320;AK304184;AMYH01004301;AY337596;BC037312;BC053625;BC063855;BX648096;CH471094;NM_018179 AAH37312;AAH63855;AAO91864;AAQ92978;BAA91751;BAG51349;BAG52020;BAG61328;BAG65064;CAB45135;EAW96314;EAW96315;EAW96316;EAW96317;EAW96318;EAW96319;EAW96320;NP_060649;Q6VMQ6 Hs.591151 1644517;1645822;1646356;1655348;1680978;1700440;1725997;1725999;1726051;2217042;5016478 1552;ATF7IP_3606;G41306;G62274;G62275;G62288;GDB:434012;RH103841;RH93222;WI-17556;WI-17987 AM;FLJ10139;FLJ10688;MCAF;MCAF1;p621 ATF-IP;ATF-interacting protein;ATF7-interacting protein;ATFa-associated modulator;MBD1-containing chromatin associated factor;MBD1-containing chromatin-associated factor 1;OTTHUMP00000239135;OTTHUMP00000239136;OTTHUMP00000239143;OTTHUMP00000239647;activating transcription factor 7-interacting protein 1;hAM APPROVED protein-coding ENSG00000171681 20092 09811 613644 VALIDATED 1314578 ATF7IP2 activating transcription factor 7 interacting protein 2 16 16 16 p13.13 10690093 10744829 + 10430226 10484996 + 10479912 10577495 + 6480464 15691849;15489334;14702039;12477932;8125298;20195266;18029348 80063 B4DKH3;F5GY73;H3BNE6;H3BPC9;H3BR07;H3BUP1;I3L4M8;Q5U623 ABBA01006791;ABBA01006792;ABBA01006793;AC131649;AK022730;AK093414;AK223492;AK296565;AK299040;AL832987;AMYH01007150;AY560615;BC033891;BC069695;BC069713;BC069730;BC137079;BC144468;BI459223;CH471112;NM_001256160;NM_024997;NR_045815;NR_045816 AAH33891;AAH69695;AAH69713;AAH69730;AAI37080;AAT66299;BAB14209;BAC04157;BAD97212;BAG59185;BAG61114;CAH56323;EAW85183;EAW85184;NP_001243089;NP_079273;Q5U623 Hs.513343;Hs.742019 1338142;1696380;2154482;2157827;2184105;2184474;5109362 D16S3215;D16S446;D17S1239;RH68741;SGC34713;SHGC-60831;SHGC-77832 FLJ12668;MCAF2 ATF7-interacting protein 2;MBD1-containing chromatin associated factor 2;MBD1-containing chromatin-associated factor 2;OTTHUMP00000160167;OTTHUMP00000160168;activating transcription factor 7-interacting protein 2 protein-coding ENSG00000166669 20397 16517 613645 VALIDATED 1351458 ATG10 autophagy related 10 Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM, Mar 2008] 5 5 5 q14.1 77171858 77456206 + 81303630 81586528 + 81267844 81551213 + 1580863;1643329;4889529;6480464 15325588;20034776 15489336;15489334;14702039;12890687;12482611;12477932;11230166;11076863;8125298;2890687;17353931;17256008;16963840;11256614;16381901;15498874;20562859;15657430;20379614;23285162 83734 D6RBD1;D6RC89;D6RDX3;Q9H0Y0 ABBA01062064;ABBA01062065;ABBA01062066;ABBA01062067;ABBA01062068;ABBA01062069;ABBA01062070;AC010598;AC106824;AC114969;AF318326;AI436652;AK024016;AK225969;AK315752;AL136912;AMYH01015449;AMYH01015450;AMYH01015451;BC004551;BC027718;BC029268;CH471084;NM_001131028;NM_031482 AAH29268;AAL55833;ABM83358;ABM86570;BAB14778;BAG38106;CAB66846;CAL38733;EAW95881;EAW95882;EAW95883;EAW95884;EAW95885;EAW95886;NP_001124500;NP_113670;Q9H0Y0 Hs.713698 1338292;1695588;1731291;2116239;5017433;5020635 D5S2029;D5S253;D5S806;D7S3207;SHGC-68947;STS-T76997 APG10;APG10L;DKFZp586I0418;FLJ13954;pp12616 APG10 autophagy 10-like;APG10-like;ATG10 autophagy related 10 homolog;OTTHUMP00000147582;OTTHUMP00000222340;apg10 autophagy 10-like (s. cerevisiae);autophagy-related protein 10;ubiquitin-like-conjugating enzyme ATG10 APPROVED protein-coding 20315 16497 610800 VALIDATED 1606757 ATG16L2 autophagy related 16-like 2 (S. cerevisiae) 11 11 11 q13.4 69829970 69845200 + 72203099 72218328 + 72525451 72540680 + 1643329;4889529;6480464 15325588;20034776 14702039;12477932;11214971;21900206;23266558 89849 F5GWM4;F5GWZ9;F5H7B6;H0YF72;H0YFC3;H0YFG0;H0YFZ7;H0YG45;H0YG67;H0YGE3;H0YGJ8;Q8NAA4;Q9H7Q5 ABBA01017531;AK024423;AK090597;AK091151;AK093017;AK303270;AL832974;AMYH01003797;AP002381;BC036713;BC069189;BC108672;BC137489;BC137490;BC142718;BC146660;BQ929430;CH471076;NM_033388 AAH36713;AAI08673;AAI37490;AAI37491;AAI42719;AAI46661;BAB15713;BAC03485;BAC04021;BAG64352;CAH56355;EAW74874;EAW74875;EAW74876;EAW74877;EAW74878;EAW74879;NP_203746;Q8NAA4 Hs.653186 2136130;2182016;5091717 G30987;RH45037;SGC32787 ATG16B;FLJ00012;WDR80 APG16-like 2;ATG16 autophagy related 16-like 2;OTTHUMP00000237478;OTTHUMP00000237485;OTTHUMP00000237486;OTTHUMP00000237487;WD repeat-containing protein 80;autophagy-related protein 16-2 APPROVED protein-coding ENSG00000168010 25464 10959 VALIDATED 1604391 ATG2A autophagy related 2A 11 11 11 q13.1 61988071 62010793 - 64418595 64441239 - 64662004 64684722 - 6480464 12477932;9253601;9455477;19615732;20379614;20562859;22219374;21887408 23130 H7C3T2;Q2TAZ0 AB007864;ABBA01024139;AI638563;AK126181;AK300925;AK307684;AMYH01003715;AP001187;BC008593;BC027481;BC033850;BC053596;BC110650;BC113090;BC113091;CH471076;NM_015104 AAH08593;AAH27481;AAH53596;AAI10651;AAI13091;AAI13092;BAA23700;BAC86477;BAG62557;EAW74323;NP_055919;Q2TAZ0 Hs.370671 1770123;1799092;1799894;1801010;1801558;1802104;1802216;1802278;1802892;1803546;1803690;1806616;1806672;1812146;1816734;1817786;1818720;1818780;1828942;1829670;1833570;1837286;1840192;1841540;1843784;1972016;1972018;1972020;1972022;1972024;1972026;1972028;1972030;1972032;1972034;1972036;1972038;1972040;1972042;1972044;1972046;1972048;1972050;1972052;1972054;1972056;1972058;1972060;1972062;1972064;1972066;1972068;1972070;1972072;1972074;1972076;1972078;1972080;1972082;1972084;1972086;1972088;1972090;1972092;1972094;1972096;1972098;1972100;1972102;1972104;1972106;1972108;1972110;1972112;1972114;1972116;1972118;1972120;1972122;1972124;1972126;1972128;1972130;1972132;1972134;1972136;1972138;1972140;1972142;1972144;1972146;1972148;1972150;1972152;1972154;1972156;1972158;1972160;1972162;1972164;1972166;1972168;1972170;1972172;1972174;1972176;1972178;1972180;1972182;1972184;1972186;1972188;1972190;1972192;1972194;1972196;1972198;1972200;1972202;1972204;1972206;1972208;1972210;1972212;1972214;2136970;5014577;5015619;5015810;5015961;5037552;7187403 D11S3114;D11S4940;D15S1477;D8S2279;ECD00392;ECD00801;ECD01371;ECD01657;ECD01934;ECD01991;ECD02023;ECD02335;ECD02674;ECD02751;ECD04265;ECD04293;ECD07078;ECD09411;ECD09947;ECD10424;ECD10454;ECD15598;ECD15967;ECD17928;ECD19810;ECD21280;ECD21967;ECD23103;G33103;GDB:182516;REN56893;REN56894;REN56895;REN56896;REN56897;REN56898;REN56899;REN56900;REN56901;REN56902;REN56903;REN56904;REN56905;REN56906;REN56907;REN56908;REN56909;REN56910;REN56911;REN56912;REN56913;REN56914;REN56915;REN56916;REN56917;REN56918;REN56919;REN56920;REN56921;REN56922;REN56923;REN56924;REN56925;REN56926;REN56927;REN56928;REN56929;REN56930;REN56931;REN56932;REN56933;REN56934;REN56935;REN56936;REN56937;REN56938;REN56939;REN56940;REN56941;REN56942;REN56943;REN56944;REN56945;REN56946;REN56947;REN56948;REN56949;REN56950;REN56951;REN56952;REN56953;REN56954;REN56955;REN56956;REN56957;REN56958;REN56959;REN56960;REN56961;REN56962;REN56963;REN56964;REN56965;REN56966;REN56967;REN56968;REN56969;REN56970;REN56971;REN56972;REN56973;REN56974;REN56975;REN56976;REN56977;REN56978;REN56979;REN56980;REN56981;REN56982;REN56983;REN56984;REN56985;REN56986;REN56987;REN56988;REN56989;REN56990;REN56991;REN56992;RH65343 KIAA0404;MGC117153 ATG2 autophagy related 2 homolog A;OTTHUMP00000069743;OTTHUMP00000069745;autophagy-related protein 2 homolog A APPROVED protein-coding ENSG00000110046 29028 17186 VALIDATED 1602498 ATG13 autophagy related 13 11 11 11 p11.2 46786959 46844582 + 46595703 46652644 + 46638826 46697569 + 4889529;6480464;6484113 20034776 12107413;19287211;19258318;19225151;19211835;18936157;16344560;15489334;14702039;12477932;9734811;9110174;8619474;8125298;17207965;17204848;19597335;19690328;20562859;20694011;21832049;16196087;21475306;21900206;21460630;21976705;23043107 9776 A8K0S6;E9PML6;E9PPR2;H0YCL5;H0YDR0;H0YEM7;H0YF43;J3KRU6;J3KST9;J3QLH7;J3QR16;J3QR83;J3QRL1;J9JIF6;O75143 AB014552;ABBA01060733;ABBA01060734;ABBA01060735;ABBA01060736;AC115088;AC127035;AF052175;AK000705;AK023867;AK223603;AK289641;AK293109;AK294110;AK296526;AK315925;AMYH01003536;BC001331;BC002378;BC006191;CD675643;CH471064;DA195671;NM_001142673;NM_001205119;NM_001205120;NM_001205121;NM_001205122;NM_014741 AAH01331;AAH02378;AAH06191;ACT64495;ACT64496;ADQ32740;BAA31627;BAB14707;BAD97323;BAF82330;BAF85798;BAG57445;BAG59157;BAH14296;EAW67985;EAW67986;EAW67987;EAW67988;EAW67989;EAW67990;EAW67991;NP_001136145;NP_001192048;NP_001192049;NP_001192050;NP_001192051;NP_055556;O75143 Hs.127403 1737711;2123023;2161887;2163649 D11S2311E;D11S3306;RH15977;T16117 FLJ20698;KIAA0652;PARATARG8 ATG13 autophagy related 13 homolog;OTTHUMP00000233321;OTTHUMP00000233322;OTTHUMP00000233323;OTTHUMP00000233324;OTTHUMP00000233325;OTTHUMP00000233326;autophagy-related protein 13 APPROVED protein-coding 29091 13809 615088 VALIDATED 2289735 ATG3P1 autophagy related 3 pseudogene 1 20 20 q12 34668259 34669404 - 37957498 37958643 - 100135756 ABBA01052540;AL121588;AMYH01011907;AY392024;NG_007378 AGP3;ATG3P;dJ54G6.1 APPROVED pseudo 31123 INFERRED 1312148 ATG14 autophagy related 14 14 14 14 q22.3 35882502 35927962 - 54902863 54948329 - 55833109 55878576 - 4889529;6480464 20034776 19050071;18843052;17081983;15489334;14702039;12477932;10048485;19270696;16751776;20562859;20713597;23197835;22992773;22314358;21906983;19322201;22797916;22797925 22863 Q6ZNE5 AA988343;ABBA01018207;AK131251;AK292810;AL049978;AL158801;AL356801;AMYH01005746;AMYH01005747;BC028015;BC109089;BC109090;BR000826;CH471061;HI573906;NM_014924 AAI09090;AAI09091;BAD18430;BAF85499;CBX47442;EAW80672;EAW80673;EAW80674;FAA00433;NP_055739;Q6ZNE5 Hs.414809 1647662;1698948;1774840;2149888;2166421;2166603;2166882;5014057;5022578;5024761;5093948;5096107 A009Z21;D1S1423;D1S3699;G33017;G35363;G35867;RH103043;RH36905;RH64855;RH68681;SHGC-33813;SHGC-52499 ATG14L;BARKOR;KIAA0831;MGC126291;MGC126292 ATG14 autophagy related 14 homolog;Barkor;Beclin 1-Interacting protein;autophagy-related protein 14-like protein;beclin 1-associated autophagy-related key regulator APPROVED protein-coding ENSG00000126775 19962 13820 613515 VALIDATED 1321647 ATG16L1 autophagy related 16-like 1 (S. cerevisiae) The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010] 2 2 q37.1 233824956 233869059 + 234160217 234204320 + 1643329;4889529;6480464;7240710 15325588;20034776 17353931;15620219;19491842;19422935;19337756;19334001;19276991;19262523;19235913;19174780;19139628;18985712;18852889;18849966;18824555;18715515;18698678;18671817;18587394;18521924;18521914;18499543;18495612;18448665;18438406;18366306;18338763;18200510;18166373;18162085;18088053;18047540;17921695;17894849;17625155;17554300;17534574;17484864;17455206;17435756;17200669;16344560;15489334;14743216;14702039;12975309;12665549;12477932;11181995;21987459;22342342;22370477;21513755;20639872;19120485;19269148;19575361;19590455;19659808;19683022;19783656;19898471;20014019;20024904;20066736;20082483;20222171;20380008;20395867;20485703;19760754;20637199;20722066;20839241;20846217;20875485;20886065;20962850;21072187;20562859;20697744;21102463;20570966;21206965;20417604;21832049;22275320;22863883;21734790;21674723;21406388;22412388;21890473;22346247;21618365;21879234;19322201;22302078;23376921;22885761;23300079;23202584;23262492;23434281;22936669;23128233 55054 C9J1B2;C9J8C6;C9JAY7;C9JK97;E7EVC7;F8WAF9;Q17RG0;Q53SV2;Q96JV5 AA809053;ABBA01001947;AC013726;AK000897;AK001690;AK024453;AK026330;AK027854;AK074434;AK123876;AK308400;AL834526;AMYH01011577;AY358182;AY398617;BC000061;BC006253;BC013411;BC071846;BC117337;BC143900;BG702756;CH471063;DB084962;DB474638;EF079889;EF079890;EF560734;NG_023038;NM_001190266;NM_001190267;NM_017974;NM_030803;NM_198890 AAH71846;AAI17338;AAI43901;AAQ88549;AAR32130;AAY14860;ABN48554;ABN48555;ABQ59044;BAA91413;BAB15448;BAB15743;BAB55412;BAB85082;BAC85713;CAD39182;EAW71033;EAW71034;EAW71035;EAW71036;EAW71037;EAW71038;EAW71039;EAW71040;NP_001177195;NP_001177196;NP_060444;NP_110430;NP_942593;Q676U5 Hs.529322 2109049;2111340;2114299;2165384;7184972 APG16L_9868;D2S1507E;WI-11277;WI-12735 APG16L;ATG16A;ATG16L;FLJ00045;FLJ10035;FLJ10828;FLJ22677;IBD10;WDR30 APG16L beta;ATG16 autophagy related 16-like 1;OTTHUMP00000164391;OTTHUMP00000164393;OTTHUMP00000165876;OTTHUMP00000165877;WD repeat domain 30;apg16 autophagy 16-like (s. cerevisiae);autophagy-related protein 16-1 APPROVED protein-coding ENSG00000085978 21498 16498 610767;611081 REVIEWED 1314851 ATG12 autophagy related 12 Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008] 5 5 q21-q22 115193714 115205398 - 115163893 115177548 - 1580863;1643329;2301217;4889529;6480464;6907045 15325588;18059433;20034776 9852036;11096062;11825910;19197948;19124466;17457038;16189514;15489334;14702039;12665549;12482611;12477932;12207896;11890701;9490301;8889548;17353931;22170153;20723759;22342342;15146197;15342556;16344560;19901552;20562859;20417604;21832049;22152474;22318606;21139048;21906983;23202584 9140 C1IDX9;D6RB14;H0Y9W4;H0YA29;H7BYD7;O94817 AB002440;AB002449;AB017507;ABBA01069029;AC026449;AK098251;AK313320;AL161968;AMYH01015563;BC011033;BC012266;BM697565;BP335591;BX327373;CB995198;CH471086;CN400030;CR978239;DA005347;DB048378;DB530852;EU554057;NM_001277783;NM_004707;NR_033362;NR_033363;NR_073603 AAH11033;AAH12266;ACD74941;BAA36493;BAG36125;EAW48954;EAW48955;EAW48956;NP_001264712;NP_004698;O94817 Hs.264482 1657408;1675271;1686130;1690103;2119656;2174000;5015861;5016596;7185938 D10S16;GDB:631802;RH68562;RH79593;RH91208;STS-N35906;WI-14939;WI-15770 APG12;APG12L;FBR93;HAPG12 APG12 autophagy 12-like;APG12-like;ATG12 autophagy related 12 homolog;Apg12 (autophagy, yeast) homolog;OTTHUMP00000159129;apg12 autophagy 12-like (s. cerevisiae);autophagy-related protein 12;ubiquitin-like protein ATG12 APPROVED protein-coding ENSG00000145782 588 08496 609608 VALIDATED 1312572 ATG2B autophagy related 2B 14 14 14 q32.2 76803312 76885404 - 95817348 95899431 - 96747595 96829678 - 6480464 19197948;15489334;15028280;14702039;12508121;12477932;22219374;20562859;22350415 55102 Q96BY7 ABBA01048595;AK001104;AK055200;AK123451;AK128275;AK302641;AL133095;AL355102;AL359240;AMYH01005977;BC015016;BC015851;BU101822;BU166120;BU167202;CH471061;NM_018036 AAH15016;BAA91504;BAB70872;BAC87363;BAG63882;EAW81633;NP_060506;Q96BY7 Hs.168241 1644343;1669230;1696256;1705618;1715661;1847157;1848777;2164197 A006S30;G09667;RH119276;RH47969;RH70020;SHGC-83311;SHGC-83632;WI-14378 C14orf103;FLJ10242 ATG2 autophagy related 2 homolog B;OTTHUMP00000195210;autophagy-related protein 2 homolog B APPROVED protein-coding ENSG00000066739 20187 12626 VALIDATED 1353416 ATG3 autophagy related 3 This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 3 3 3 q13.2 110660041 110689158 - 113734049 113763175 - 112251359 112280485 - 737633;1580863;1643237;1643329;4889529;6480464;6907045 12477932;17110912;15325588;20034776 11825910;14702039;16704426;15592455;15489334;15144186;17353931;19342671;22644571;19838173;20697744;20723759;20562859;15355958;16303767;22863883;19932681;20061800;21139048;21906983;22053931;22505724;23119048 64422 C9JNW8;F8WDI0;Q9NT62 AA448974;AB079384;ABBA01061663;AC092692;AF202092;AK025778;AK307432;AK308919;AL137515;AMYH01013392;AW408464;BC002830;BC024221;BC043267;CH471052;DC311625;NM_001278712;NM_022488 AAG35611;AAH02830;AAH24221;ABM84350;ABM87773;BAB15237;BAB90843;CAB70781;EAW79668;EAW79669;EAW79670;EAW79671;NP_001265641;NP_071933;Q9NT62 Hs.477126 1660425;1715573;2119998;2165768;2165770 A006E19;G20743;GDB:372310;RH120928;WI-22015 APG3;APG3-LIKE;APG3L;DKFZp564M1178;FLJ22125;MGC15201;PC3-96 2610016C12Rik;APG3 autophagy 3-like;ATG3 autophagy related 3 homolog;OTTHUMP00000214547;OTTHUMP00000214548;apg3 autophagy 3-like (s. cerevisiae);autophagy Apg3p/Aut1p-like;autophagy-related protein 3;hApg3;ubiquitin-like-conjugating enzyme ATG3 APPROVED protein-coding 20962 10654 609606 REVIEWED 1348604 ATG4D autophagy related 4D, cysteine peptidase Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 19 19 19 p13.2 10549363 10558810 + 10515647 10525094 + 10654647 10664094 + 1580863;1643329;6480464;6907045 15325588 12446702;15489334;14702039;12477932;8125298;17207965;19549685;8889548;21906983;22441018 84971 K7EJA5;K7EKP6;K7EMB9;K7EN30;K7EP43;K7EPJ0;K7EQ67;K7EQN3;K7ERK1;K7ESM7;Q86TL0;Q969K0 ABBA01029914;ABBA01029915;AC011461;AJ312332;AK056210;AK223383;AK294676;AK314712;AK316454;AMYH01009476;AMYH01009477;BC007639;BC016845;BC068992;BM671285;CH471106;HY063028;NM_001281504;NM_032885;NR_104024;NR_104025 AAH07639;AAH16845;AAH68992;ADQ32084;ADZ15779;BAB71121;BAD97103;BAG57839;BAH14825;CAC85951;EAW84116;EAW84117;EAW84118;EAW84119;NP_001268433;NP_116274;Q86TL0 Hs.512799 1676344 RH94334 APG4-D;APG4D;AUTL4 APG4 autophagy 4 homolog D;ATG4 autophagy related 4 homolog D;AUT-like 4 cysteine endopeptidase;AUT-like 4, cysteine endopeptidase;apg4 autophagy 4 homolog d (s. cerevisiae);autophagin-4;autophagy-related cysteine endopeptidase 4;autophagy-related protein 4 homolog D;cysteine protease ATG4D;cysteine protease involved in autophagy APPROVED protein-coding ENSG00000130734 20789 07005 611340 REVIEWED 1604759 ATG4A autophagy related 4A, cysteine peptidase Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2008] X X X q22.1-q22.3 107806406 107869363 + 107221590 107284552 + 107334899 107397901 + 1643329;6480464;6907045 15325588 21177865;12473658;15169837;12446702;17347651;15772651;15489334;14702039;12477932;17207965;20819778;21122541;21297227 115201 F5H3G3;F8W7J2;G5E979;H7BYM2;Q96KQ0 AA648264;AB066214;ABBA01035973;ABBA01035974;ABBA01035975;ABBA01035976;ABBA01035977;ABBA01035978;ABBA01035979;ABBA01035980;AJ320508;AJ320509;AJ504651;AK054927;AK123287;AK293533;AK314429;AL031177;AMYH01022835;BC041862;BC061696;BM541631;CH471120;NM_052936;NM_178270 AAH41862;AAH61696;ADQ32188;BAB83889;BAG37044;BAG57015;CAC69076;CAC69077;CAD43218;EAX02689;EAX02690;EAX02691;EAX02692;EAX02693;EAX02694;EAX02695;EAX02696;NP_443168;NP_840054;Q8WYN0 Hs.8763 1643970;1651343;1690780;1702098;1703868;1745811;1757433;1857382;1857384;2124310;2174117;2174119 A006H40;AL022448;DXS7743;DXS7882;DXS8284;G20822;GDB:642223;RH26790;RH36508;SHGC-144818;SHGC-79051;WI-18722 APG4A;AUTL2 APG4 autophagy 4 homolog A;ATG4 autophagy related 4 homolog A;AUT-like 2 cysteine endopeptidase;AUT-like 2, cysteine endopeptidase;OTTHUMP00000023821;OTTHUMP00000023822;OTTHUMP00000023825;autophagin 2;autophagin-2;autophagy-related cysteine endopeptidase 2;autophagy-related protein 4 homolog A;cysteine protease ATG4A;hAPG4A APPROVED protein-coding ENSG00000101844 16489 06455 300663 REVIEWED 1317140 ATG4C autophagy related 4C, cysteine peptidase Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 p31.3 61538646 61618912 + 63022391 63102638 + 63249777 63330941 + 1643329;6480464;6907045 15325588 12446702;18029348;18193044;17442669;15489334;22248718;14702039;12477932;16344560;8889548;20562859;20966902;21139048 84938 A6NGQ4;C9JC51;H7BZW5;Q96DT6 ABBA01074582;ABBA01074583;ABBA01074584;ABBA01074585;AC099794;AC103923;AC119425;AJ312234;AJ320169;AK027773;AMYH01000670;BC008395;BC018678;BC033024;BI518482;BM146035;BM720875;BQ777265;CH471059;DB183325;NM_032852;NM_178221 AAH18678;AAH33024;ABM83408;ABM86619;BAB55356;CAC43939;CAC85556;EAX06579;EAX06580;NP_116241;NP_835739;Q96DT6 Hs.7353 1338928;1653001 D1S2835;SHGC-31906 APG4-C;APG4C;AUTL1;AUTL3;FLJ14867 APG4 autophagy 4 homolog C;ATG4 autophagy related 4 homolog C;AUT-like 1, cysteine endopeptidase;AUT-like 3 cysteine endopeptidase;OTTHUMP00000010714;OTTHUMP00000010715;apg4 autophagy 4 homolog c (s. cerevisiae);autophagin-3;autophagy-related cysteine endopeptidase 3;autophagy-related protein 4 homolog C;cysteine protease ATG4C APPROVED protein-coding ENSG00000125703 16040 07473 611339 REVIEWED 1352923 ATHS atherosclerosis susceptibility (lipoprotein associated) 7240710 1731344 470 793 1320126 ATG4B autophagy related 4B, cysteine peptidase Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 2 2 q37.3 242225700 242261945 + 242577027 242613272 + 1643329;6480464;6907045 15325588 17353931;10231032;15169837;15187094;12446702;19322194;17081983;16704426;16381901;16325851;16183633;16169070;15489336;15489334;15355958;14702039;12477932;11230166;11076863;21177865;19615732;20562859;22939629;21900206;21139048;21906983;22674379;20010802;18387192 23192 B3KVU2;C9J1C1;C9J3C0;C9JIK8;C9JQ72;C9JVD5;F2Z2K8;F5H7P2;F8WD71;H0Y2Y0;H7C2A6;Q9Y2F2 AB023160;AB066215;ABBA01006062;AC133528;AJ504652;AK027332;AK027462;AK027763;AK123425;AK125277;AK296818;AK298109;AK302963;AK316167;AL050288;AL080168;AL133638;AMYH01011634;BC000719;BX648007;CH471063;NM_013325;NM_178326 AAH00719;AAY14919;ABM82795;BAA76787;BAB55042;BAB55127;BAB55353;BAB83890;BAC86110;BAG53904;BAG59391;BAG60394;BAG64112;BAH14538;CAB45756;CAD43219;CAH56198;CAL38626;EAW71278;EAW71279;EAW71280;EAW71281;NP_037457;NP_847896;Q9Y4P1 Hs.283610 1677670;1779182;1856673;2135704;2184858;5126716 A008U23;D2S2042;RH35842;RH47370;SHGC-34535;WI-17974 APG4B;AUTL1;MGC1353 APG4 autophagy 4 homolog B;ATG4 autophagy related 4 homolog B;AUT-like 1 cysteine endopeptidase;OTTHUMP00000200147;OTTHUMP00000200148;OTTHUMP00000200150;apg4 autophagy 4 homolog b (s. cerevisiae);autophagin-1;autophagy-related cysteine endopeptidase 1;autophagy-related protein 4 homolog B;cysteine protease ATG4B;hAPG4B APPROVED protein-coding ENSG00000168397 20790 16499 611338 REVIEWED 1353398 ATG5 autophagy related 5 6 6 q21 106739045 106880388 - 106632352 106773695 - 1580863;4889529;2301217;6480464;6907045 20034776;18059433 22170153;22342342;9852036;11096062;15292400;19375507;19197948;19194464;19148225;19124466;19066443;18353420;17353931;16341674;15778222;15489334;15342556;14702039;14574404;12703993;12665549;12482611;12477932;12417306;12207896;11825910;11725643;11349150;11266458;10702672;9563500;7796880;20697744;20529838;19783847;19838193;19881538;19901552;20038797;20379614;20580051;17207965;20962850;21068098;20562859;20190558;20417604;22863883;21664058;22993366;21655094;21622776;18296641;21722286;21995634;22040493;19322201;22536318;22052905;21795849;21139048;21906983;23317196;23273568;23075929;23202584;20639872;18448665;21976705;23384565 9474 A9UGY9;Q7Z3H3;Q9H1Y0 ABBA01026199;ABBA01026200;ABBA01026201;ABBA01026202;AF293841;AK001899;AK299577;AK315800;AL022067;AL133509;AL138917;AMYH01016564;BC002699;BC093011;BM831472;BP297166;BX537904;CH471051;CR749386;EU283338;EU283339;JQ924061;NM_004849;Y11588 AAG44955;AAH02699;AAH93011;ABX79918;ADQ32477;AGC52703;BAG50990;BAH13072;CAA72327;CAD97890;CAH18236;EAW48414;EAW48415;EAW48416;EAW48417;EAW48418;NP_004840;Q9H1Y0 Hs.486063 1674504;1685261;2159055;2185577;2190575 EST6B12;RH78069;RH93335;STS-N94345;WI-20363 APG5;APG5-LIKE;APG5L;ASP;hAPG5 APG5 (autophagy 5, S. cerevisiae)-like;APG5 autophagy 5-like;ATG5 autophagy related 5 homolog;ATG5 autophagy related 5-like;OTTHUMP00000017823;OTTHUMP00000017824;OTTHUMP00000017825;apg5 autophagy 5-like (s. cerevisiae);apoptosis specific protein;apoptosis-specific protein;autophagy protein 5 APPROVED protein-coding ENSG00000057663 589 16051 604261 VALIDATED 1312481 ATG7 autophagy related 7 This gene was identified based on homology to Pichia pastoris GSA7 and Saccharomyces cerevisiae APG7. In the yeast, the protein appears to be required for fusion of peroxisomal and vacuolar membranes. The protein shows homology to the ATP-binding and catalytic sites of the E1 ubiquitin activating enzymes. [provided by RefSeq, Jan 2009] 3 3 p25.3 11315160 11571557 + 11314010 11599139 + 1580863;1643329;1643198;4889529;6480464;6907045 15325588;17665967;20034776 11096062;11825910;10233149;12890687;19148225;19124466;18688877;16344560;16303743;15489334;15342556;12477932;11890701;12482611;16704426;20697744;20083906;16303767;18029348;19881538;20379614;20562859;20543840;21274862;22863883;21832049;21655094;18296641;21903422;22499945;22927446;21139048;22674379;22170151;20195357;21963094;23386620;19635843;23295909 10533 C9J415;C9JE55;C9JFF4;C9JGL2;C9JKA3;C9JNU2;F8WDY9;H7BZ92;H7C059;H7C2J8;H7C2R3;H7C369;O95352 ABBA01025217;ABBA01025218;ABBA01025219;ABBA01025220;ABBA01025221;ABBA01025222;ABBA01025223;ABBA01025224;ABBA01025225;AC020750;AC022001;AC026185;AC083855;AF094516;AK075221;AK298833;AK303694;AK314504;AL122075;AMYH01012976;AMYH01012977;AMYH01012978;BC000091;BP373819;CH471055;CQ783323;DA177126;NM_001136031;NM_001144912;NM_006395 AAC69630;AAH00091;BAG37104;BAG52088;BAG60963;BAG64682;CAB59250;CAF86536;EAW64093;EAW64094;EAW64095;EAW64096;EAW64097;NP_001129503;NP_001138384;NP_006386;O95352 Hs.38032 1341208;1643618;1644359;1647119;1681432;1686640;1739041;1852170;2121541;2129515;2143351;2149615;2150805;2160093;2164110;2166629;2168432;7186145 D3S1263;D3S3123;D3S3137;D3S3242;D3S3319;D3S3429;D3S3454;D3S3828;D3S4030;RH15949;RH25345;RH98571;SHGC-35171;SHGC-57938;SHGC-76706;SHGC-76717;STS-H83694 APG7-LIKE;APG7L;DKFZp434N0735;GSA7 APG7 autophagy 7-like;ATG12-activating enzyme E1 ATG7;ATG7 autophagy related 7 homolog;OTTHUMP00000160157;OTTHUMP00000207591;OTTHUMP00000207592;apg7 autophagy 7-like (s. cerevisiae);autophagy-related protein 7;hAGP7;ubiquitin activating enzyme E1-like protein;ubiquitin-activating enzyme E1-like protein;ubiquitin-like modifier-activating enzyme ATG7 APPROVED protein-coding ENSG00000197548 16935 12293 608760 VALIDATED 1312973 ATL2 atlastin GTPase 2 2 2 2 p22.3 38362844 38445253 - 38376628 38457919 - 38522027 38604432 - 737633;1580863;6480464 12477932 18270207;16344560;15517445;14702039;10508919;8125298;19665976;20360068;22065636;21139048;21890473;21906983 64225 B5MCN0;B7Z7X8;C9JC25;C9JQQ5;F8WBH0;F8WD17;F8WEN4;H7C3A2;Q8NHH9 ABBA01074991;ABBA01074992;ABBA01074993;ABBA01074994;ABBA01074995;ABBA01074996;ABBA01074997;AC016995;AF449187;AK026946;AK124434;AK225190;AK294049;AK294711;AK302621;AK303985;AK308894;AK316179;AMYH01010264;AMYH01010265;BC039050;BC053508;CH471053;DA643528;NM_001135673;NM_022374;NR_024191 AAH53508;AAM97341;AAM97342;AAX88950;BAB15598;BAH11658;BAH11856;BAH13764;BAH14091;BAH14550;EAX00375;EAX00376;EAX00377;NP_001129145;NP_071769;Q8NHH9 Hs.727652 1694696;1698872 G43537;RH103002 ARL3IP2;ARL6IP2;FLJ23293;atlastin2 ADP-ribosylation factor-like 6 interacting protein 2;ADP-ribosylation factor-like protein 6-interacting protein 2;ADP-ribosylation-like factor 6 interacting protein 2;ARL-6-interacting protein 2;OTTHUMP00000128257;OTTHUMP00000128258;OTTHUMP00000201418;OTTHUMP00000201419;OTTHUMP00000201420;aip-2;atlastin-2 protein-coding ENSG00000119787 24047 10662 609368 VALIDATED 1604792 ATHL1 ATH1, acid trehalase-like 1 (yeast) 11 11 11 p15.5 263762 270317 - 280694 285412 + 289138 295688 + 6480464 16341674;15342556;15146197;12477932;19834535;22990118 80162 B8ZZ60;E7EMA9;H0YCL6;H3BM00;Q32M88 ABBA01011168;ABBA01011169;AC136475;AI217945;AI919161;AK026288;AK074155;AK090428;AK296137;AL832932;AMYH01003277;BC048336;BC066641;BC109257;BC109258;BM842384;BP262327;CH471278;CN298034;NM_025092 AAI09258;AAI09259;BAB15431;BAB84981;BAC03409;BAG58879;CAH56316;EAW61223;EAW61224;EAW61225;EAW61226;EAW61227;EAW61228;EAW61229;EAW61230;EAW61231;EAW61232;NP_079368;Q32M88 Hs.353181 2179196 SGC34144 FLJ22635;MGC129858;MGC129859 OTTHUMP00000203396;OTTHUMP00000203397;OTTHUMP00000203398;acid trehalase-like protein 1 protein-coding ENSG00000142102 26210 07999 VALIDATED 1352218 ATG9B autophagy related 9B This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] 7 7 7 q36.1 145266630 145278919 - 150340233 150352519 - 150709297 150721586 - 1643198;4889529;6480464 17665967;20034776 15755735;19423521;19197948;15234981;14702039;19657746;22374993;22606351;22879892;12477932;19423540;19948975;20083107;20406964;20416077;20438785;19913121;20628086;17403686 285973 Q674R7 AACC02000108;ABBA01035167;AC010973;AI221785;AI243432;AI827483;AK096734;AMYH01018142;AY316116;AY515311;BC128587;BK004019;NG_030317;NM_173681;NR_073169 AAI28588;AAQ86941;AAS87212;BAC04853;DAA05200;NP_775952;Q674R7 Hs.707300;Hs.716846 1682487;1848219;2156048;2177268 D7S2866;GDB:4585743;RH45385;RH99113 APG9L2;NOS3AS;SONE APG9-like 2;ATG9 autophagy related 9 homolog B;autophagy 9-like 2 protein;autophagy-related protein 9B;endothelial nitric oxide synthase antisense;nitric oxide synthase 3 antisense;nitric oxide synthase 3-overlapping antisense gene protein;protein sONE APPROVED protein-coding ENSG00000181652 21899 08253 612205 REVIEWED 1353328 ATG9A autophagy related 9A 2 2 2 q35 213853809 213864068 - 219792346 219802605 - 220084102 220094361 - 1580863;1643198;4889529;6480464 17665967;20034776 15755735;17081983;16381901;15489336;15489334;15342556;14702039;12477932;11230166;11076863;21068542;16940348;20819778;16169070;20379614;19893488;21900206;21903422;21987572;21139048;21890473;21906983;22456507 79065 C9IYZ9;C9JD65;C9JDK4;C9JFV2;C9JKV7;C9JS65;C9JX27;C9JXG2;F2Z3I6;H7C152;H7C1G6;Q9H6L1 ABBA01023846;ABBA01023847;AC068946;AK021732;AK025822;AK027448;AK056595;AK289755;AK302521;AK315553;AL833865;AMYH01011505;BC001098;BC001206;BC021202;BC065534;BK004018;BP284912;BX537984;BX538192;BX538198;CH471063;NM_001077198;NM_024085 AAH01098;AAH21202;AAH65534;BAB13882;BAB15246;BAB55119;BAF82444;BAG51759;BAG63795;CAD38723;CAD97944;CAD98061;CAD98064;CAL38676;DAA05199;EAW70706;EAW70707;NP_001070666;NP_076990;Q7Z3C6 Hs.323363 1651365;1674240;1753657;1850441;2183384;2191041;5017593 A002Q44;ATG9A;D2S1807;MARC_13747-13748:1003852080:1;RH68357;SHGC-107518;WI-19704 APG9L1;MGD3208;mATG9 APG9 autophagy 9-like 1;APG9-like 1;ATG9 autophagy related 9 homolog A;OTTHUMP00000206046;OTTHUMP00000206048;OTTHUMP00000206049;OTTHUMP00000206062;apg9 autophagy 9-like 1 (s. cerevisiae);autophagy 9-like 1 protein;autophagy-related protein 9A APPROVED protein-coding ENSG00000198925 22408 07979 612204 VALIDATED 1601766 ATL3 atlastin GTPase 3 11 11 11 q13.1 60720452 60763095 - 63153013 63195659 - 63396437 63439083 - 6480464 18270207;14702039;12477932;10737800;19665976;21832049;21987572;21139048;21890473;21906983;22505724 25923 C9JUU1;F5GWF8;F5H6I7;Q6DD88 ABBA01003256;ABBA01003257;AK023383;AK090822;AK094227;AK097588;AK301910;AL117600;AMYH01003694;AP000753;BC077727;BE710391;BI829120;BX642720;BX648468;CH471076;CR936784;NM_015459 AAH77727;BAB14552;BAC05111;BAG63336;CAB56010;EAW74161;EAW74162;EAW74163;NP_056274;Q6DD88 Hs.356719 2133625;2171887;2179937;5022200;5022578;5037552 A006Q18;D1S1423;D8S2279;G27556;L18426;RH12215 DKFZp564J0863 OTTHUMP00000237071;OTTHUMP00000237072;atlastin 3;atlastin-3 protein-coding 24526 13170 609369 VALIDATED 1352093 ATL1 atlastin GTPase 1 The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 q22.1 50096500 50169141 + 50999800 51099786 + 1580863;6480464;7240710 22508509;18664244;18644145;18446315;17531128;17502470;17427918;17420921;17380240;17321752;16815977;16401858;16344560;16339213;15742100;15596607;15517445;15489334;15477516;15184642;14695538;14607301;14506257;12939451;12508121;12499504;12477932;12112092;11685207;9110174;8619474;8252041;8125298;7825576;12387898;19735987;21321493;21368113;19768483;21194679;20718791;20932283;16533974;19423133;19459885;19573020;19652243;19665976;19724895;19730024;19851296;20198315;20200447;20862796;21220294;21930898;22340599;23079343;21906983;21890473;21963094;23334294;20125193 51062 F8WD04;G3V321;G3V334;G3V4Y8;G3V5T4;H0YJ65;H0YJA7;Q53F53;Q8WXF7 ABBA01018139;ABBA01018140;ABBA01018141;ABBA01018142;AF131801;AF444143;AK223436;AK290185;AK312518;AL118556;AL606834;AL833591;AMYH01005723;AW674605;AY032844;BC010708;BG704589;BI601372;CH471078;CQ860306;CR457153;DA088230;DA397302;NG_009028;NM_001127713;NM_015915;NM_181598;R61338 AAD20047;AAH10708;AAK51160;AAL37898;BAD97156;BAF82874;CAG33434;CAH10392;CAH25961;EAW65705;EAW65706;EAW65707;EAW65708;EAW65709;NP_001121185;NP_056999;NP_853629;Q8WXF7 Hs.584905 1656847;1673492;1681298;1703856;1775032;2138956;2167117;5019907;5117012 G17830;G35761;G35806;G54794;HSC2BE052;RH98833;SHGC-79145;WI-16395;btcn28117 AD-FSP;FSP1;GBP3;HSN1D;SPG3;SPG3A;atlastin1 GBP-3;GTP-binding protein 3;OTTHUMP00000178981;OTTHUMP00000244698;atlastin-1;brain-specific GTP-binding protein;guanine nucleotide-binding protein 3;guanylate-binding protein 3;hGBP3;spastic paraplegia 3 protein A APPROVED protein-coding ENSG00000198513 11231 05918 182600;606439;613708 REVIEWED 731594 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009] 2 2 q35 215885081 215922724 + 216176679 216214496 + 1599355;1580863;70804;1300048;5135488;5144054;6480464;6907045;7240710;7242561 15114530;9332377;20005278;17408934;22332074 8567683;17353931;19193698;19161160;19016697;18845790;17617058;17530705;17439323;17410198;17181924;17009228;16009940;16947783;16447238;16344560;15677700;15489334;15457444;14966129;12477932;11948179;11096114;9598063;9378707;8867801;1286667;21319273;14756553;1574589;19858780;19902562;19936946;20029029;19913121;20628086;20634891;20877624;22863883;22939629;22053931;22505724;22586326;18781797;20639865;21139048;21890473;21906983;21987572;22180458 471 C9JLK0;E9PBU3;F2Z3E8;F5GWY2;F8WEF0;H7BZU3;H7C084;H7C1S2;P31939 AA494525;AB062403;ABBA01062788;ABBA01062789;AC073284;AK290067;AK298142;AK313066;AMYH01011488;BC008879;CH471063;D82348;D89976;DA043224;DA074758;NG_013002;NM_004044;U37436 AAA97405;AAH08879;AAY24062;ABM84188;ABM87590;BAA11559;BAA21762;BAB93490;BAF82756;BAG35895;BAG60418;EAW70523;EAW70524;EAW70525;EAW70526;EAW70527;EAW70528;EAW70529;NP_004035;P31939 Hs.90280 1646417;1650423;2123342 RH11837;SGC31824;WI-10220 AICAR;AICARFT;FLJ93545;IMPCHASE;PURH 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp;5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase;AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme;AICARFT/IMPCHASE;OTTHUMP00000163981;OTTHUMP00000206773;bifunctional purine biosynthesis protein PURH;phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase APPROVED protein-coding ENSG00000138363 794 03434 601731;608688 REVIEWED 1352790 ATN1 atrophin 1 Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-23 copies to 49-75 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Feb 2010] 12 12 p13.31 6903887 6921745 + 7033626 7051484 + 1358440;1580863;6480464;7240710 9184318 10332026;11984006;7647802;10814707;19235102;19039037;18651325;18182848;17965145;17503969;17081983;16967484;16858508;16534126;16407196;16091834;15302935;15223312;15148151;14756671;12812981;12477932;12464607;11843701;11807410;11781699;11121205;10737800;22083836;9845282;9647693;9361003;9074930;8965642;8852663;8786114;8723724;8325628;8136840;8136826;7951323;7842016;7485154;16169070;14645126;9535906;9949204;22315970;16713569;17577209;20196398;20977674;20696395;16481466;20339376;20589872;20301664;10973986;22342974;10085113;20811636;21827919;20467438;21988832;21890473;21749564 1822 P54259;Q86V38 ABBA01017668;ABBA01017669;AMYH01004210;AMYH01004211;AMYH01004212;AW411230;BC051795;BE142829;BQ448220;BQ880124;BQ897715;BQ957462;CH471116;D31840;D38529;D63808;NG_008047;NM_001007026;NM_001940;U23851;U47924 AAB50276;AAB51321;AAH51795;ABZ92035;BAA06626;BAA07534;BAA23631;EAW88706;EAW88707;EAW88708;NP_001007027;NP_001931;P54259 Hs.143766 1668496;1693756;1732307;1743205;1773574;1775539;1795774;1846582;2137943;2168225 AF021112;D12S1899;D12S755E;ENO2_37;G10506;G28537;GDB:303913;RH11235;SHGC-58828;STS-D31840 B37;D12S755E;DRPLA;HRS;NOD OTTHUMP00000239930;OTTHUMP00000239931;OTTHUMP00000239932;atrophin-1;dentatorubral-pallidoluysian atrophy (atrophin-1);dentatorubral-pallidoluysian atrophy protein APPROVED protein-coding ENSG00000111676 3033 06311 125370;607462 REVIEWED 1349240 ATOH1 atonal homolog 1 (Drosophila) This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with E47. [provided by RefSeq, Jul 2008] 4 4 q22 94969101 94970165 + 94750078 94751142 + 1580863;6480464 22786753;8872459;22370966;19243219;18275842;17826772;17549667;17397818;17241872;17000673;16831200;16647036;16382053;15489334;14757642;12477932;12209986;11889557;11748221;9449674;19741118;19924642;20621629;21125297;22147253;22573682;22573692;22985730;23030416 474 Q6ISE7;Q92858 ABBA01063610;AC087413;AMYH01014402;BC069145;BC069578;BC069594;BC069604;BC113623;BC113625;CH471057;NM_005172;U61148 AAB41305;AAH69145;AAH69578;AAH69594;AAH69604;AAI13624;AAI13626;ABZ91994;ADR82945;EAX06046;NP_005163;Q92858 Hs.532680 1652028;1743337;1795404;2166547;5492929;5494051 ATOH1_309;GDB:314993;RH70687;SHGC-67257;UniSTS:480821;UniSTS:483276 ATH1;HATH1;MATH-1;bHLHa14 OTTHUMP00000161597;class A basic helix-loop-helix protein 14;helix-loop-helix protein hATH-1;protein atonal homolog 1 APPROVED protein-coding ENSG00000172238 797 03270 601461 REVIEWED 1603699 ATMIN ATM interactor 16 16 16 q23.2 65367853 65379348 + 79626959 79638452 + 81069458 81080951 + 6480464 8889548;19001856;18728389;18433721;17525732;15933716;15489334;12477932;9455477;20975950;19844255;21971545;22167198 23300 J3QRX7;O43313 AB007891;ABBA01016985;ABBA01016986;AC092718;AK025058;AK290943;AK301781;AK302556;AMYH01007848;BC002701;BI259534;BM693775;BX343387;BX375235;CF593326;CH471114;CR749457;NM_015251 AAH02701;BAA24861;BAF83632;BAH13552;BAH13741;CAH18291;EAW95549;EAW95550;EAW95551;EAW95552;NP_056066;O43313 Hs.16349;Hs.589959 1643608;1673006;1679435;1740197;2139892;5092332;5106381 D16S2944;D9S1775;G42176;RH65177;RH66612;RH70761;SGC32359 ASCIZ;DKFZp779K1455;FLJ50270;FLJ61620;FLJ76795;KIAA0431;ZNF822 ATM INteracting protein;ATM interactor;ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein;ATM/ATR-substrate CHEK2-interacting zinc finger protein;ATM/ATR-substrate CHK2-interacting zinc finger protein;zinc finger protein 822 protein-coding ENSG00000166454 29034 17188 614693 VALIDATED 1350083 ATOH8 atonal homolog 8 (Drosophila) 2 2 2 p11.2 85808992 85846589 + 85834531 85868700 + 85980909 86018506 + 737633;6480464 12477932 16344560;14702039;12419857;8889548;19913121;20628086;21857980;22354994 84913 Q96SQ7 ABBA01075767;ABBA01075768;ABBA01075769;ABBA01075770;AC012454;AC105053;AF529205;AK027614;AK074681;AK096049;AL831857;AMYH01010497;AMYH01010498;BC021207;BC094832;BM671127;BQ018438;CH471053;CQ783576;DA629171;NM_032827 AAH21207;AAH94832;AAO85773;BAB55233;BAC11135;CAF86744;CAH56263;EAW99481;EAW99482;NP_116216;Q96SQ7 Hs.135569 1340977;1700572;1759567;2140978 D2S2232;G31073;RH103908;SHGC-150973 FLJ14708;FLJ38730;HATH6;bHLHa21 OTTHUMP00000160681;atonal homolog 6;basic helix loop helix transcription factor 6;basic helix-loop-helix transcription factor 6;class A basic helix-loop-helix protein 21;helix-loop-helix protein hATH-6;protein atonal homolog 8 protein-coding 24126 09813 VALIDATED 1606040 ATM ataxia telangiectasia mutated The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010] 11 11 q22-q23 107598769 107745036 + 108093559 108239826 + 1643349;1643350;1643351;2293870;2293869;2293868;2317367;2317363;2317234;2316155;2316156;1599367;1599366;6480464;6484113;6907045;7240710 17064299;11200774;10748873;14983937;16997395;17164260;16520463;19147782;18381943;19450511;16601750;11751435;11852039 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661334;19690177;19691550;19692168;19723050;19779458;19781682;19789190;19798429;19805520;19816404;19851285;19881958;19903823;19950226;19962312;19965871;19996108;20003485;20004998;20010693;20023412;20026654;20048340;20065354;20080624;20094034;20103595;20123963;20160076;20170971;20171797;20177397;20177704;20232390;20305132;20354815;20396981;20453000;20496165;20513533;20544271;20550933;9925639;23251624;17244605;20668194;20869334;21157431;20124459;20427287;20932475;20932476;20966255;20864035;21095582;20471956;20338046;20933509;21108427;21186350;18480432;20647759;20676049;21187516;16678111;18710941;20801936;21156285;19714462;19913121;20516478;20552631;20605201;20610542;20628086;20644561;20665102;20729006;20799949;20810650;20816691;20709753;17875758;20599567;16872911;19557330;20448412;20663147;20731661;20826828;21050672;21058196;20301790;21034966;22529920;22537351;22585167;22854598;21048951;21204616;10531300;21102523;21149446;21245467;21127042;20368801;21224259;21361779;22893124;23055520;22675167;22730303;23438602;21263216;19586936;20077038;21219611;21298066;21487018;21502314;21127011;21504893;21383020;21747934;21445571;21665257;21706325;21824286;18006705;20019063;20534441;21573174;10744722;21070773;22909323;22951905;20798688;21606198;21518729;23230272;23440242;22179422;22707287;21460853;21460856;21637298;20372057;21322649;21792198;21643982;22065599;12549820;18514189;18577246;19050264;19164952;19177012;19275579;19275588;20005840;20012529;21519849;21874023;21934670;22213803;22505724;22976441;20581453;21596788;21937706;19850743;20360068;21532626;21669554;21778326;21791604;21908846;21980462;22093823;22374981;22406215;22438227;22493284;22586326;22485171;19783983;21849032;21935375;21937043;21965147;22006793;22096476;22094875;22229509;21858080;23185347;23239948;23486281;22952040;23642045;22453082;22453232;22250480;21139048;21878502;21890473;21924579;21955805;22159035;21910157;22030623;22123827;22369572;22842784;16452482;19023333;22184063;22677372;22751958;22808196;20064447;23163762;23703321;16122426;22126766;23091097;23333640;15174051;16122425;18583959;23405218;22420423;23154078;23272087;23555296;23708966;23465063;21850541;23142947;23468639;22759405;23343766;23847781;23246256;23578831;22923499;22323184;22576881;22941977;23176708;23525106 472 E9PIN0;E9PIQ5;E9PRG7;H0YCK8;H0YCZ1;H0YDU7;H0YEC6;M0QXY8;Q13315 AB209133;ABBA01039868;AF035328;AK299843;AMYH01004021;AP001925;AP005718;AY220758;BC007023;BC022307;BC061584;BC137169;BC152385;BC152389;BT006764;CH471065;CR749436;HM437232;NG_009830;NM_000051;U26455;U33841;U55757;U67092;U67093;U82828;X91196;Y08455 AAA86520;AAB38309;AAB38310;AAB65827;AAC50289;AAC51298;AAH61584;AAI37170;AAI52386;AAI52390;AAM09295;AAO26044;AAP35410;ADN43064;BAD92370;BAG61705;CAA62603;CAA69711;CAH18274;EAW67108;EAW67109;EAW67110;EAW67111;EAW67112;EAW67113;EAW67114;EAW67115;NP_000042;Q13315 Hs.367437 1652464;1697484;1710408;1712204;1724047;1734066;1737751;1789282;1789284;1789729;1789731;1789733;1789735;1789737;1789739;1789741;1789743;1789745;1789747;1789749;1789751;1789753;1789755;1789757;1789759;1789761;1789763;1789765;1789767;1789769;1789771;1789773;1789775;1789777;1789779;1789781;1789783;1789785;1789787;1789789;1789791;1789793;1789795;1789797;1789799;1789801;1789803;1792164;1797304;2185380;2185536;2185814;2190229;2190231;2190233;2190235;2190237;2190239;2190241;2190243;2190245;2190247;2190249;2190251;2190253;2190255;2190257;2190259;2190261;2190263;2190265;2190267;2190269;2190271;2190273;2190275;2190277;2190279;2190281;2190283;2190285;5015619;5015861;5015869;5015879;5015961;5016596;5020881;5020946;5022200;5022322;5022578;5022651;5024413;5037552;7185938 ATM_2409;ATM_EXON49;ATM_EXON63;ATM_exon1a;ATM_exon1b1;ATM_exon25;ATM_exon26;ATM_exon28;ATM_exon3;ATM_exon30;ATM_exon32;ATM_exon33;ATM_exon36;ATM_exon37;ATM_exon38;ATM_exon41;ATM_exon44;ATM_exon50;ATM_exon52;ATM_exon53;ATM_exon61;ATM_exon65F;ATM_exon65a;ATM_exon65b;ATM_exon65c;ATM_exon65e;ATM_exon65g;ATM_exons23and24;ATM_x9;D10S16;D11S2179;D11S2560;D11S2921;D11S3114;D11S3347;D15S1477;D1S1423;D8S2279;G54153;G67874;G67879;GDB:313261;GDB:314949;GDB:631802;L17709;L17877;L17971;L18426;PMC137935P1;PMC311160P1;RH102244;RH119034;RH17960;RH36405;SHGC-35479;SHGC-82486;STS-AA016254;csnpatm-pcr1-1;csnpatm-pcr10-1;csnpatm-pcr11-1;csnpatm-pcr15-1;csnpatm-pcr17-1;csnpatm-pcr18-1;csnpatm-pcr19-1;csnpatm-pcr20-1;csnpatm-pcr21-1;csnpatm-pcr22-1;csnpatm-pcr23-1;csnpatm-pcr24-1;csnpatm-pcr25-1;csnpatm-pcr27-1;csnpatm-pcr28-1;csnpatm-pcr29-1;csnpatm-pcr3-1;csnpatm-pcr30-1;csnpatm-pcr31-1;csnpatm-pcr33-1;csnpatm-pcr35-1;csnpatm-pcr38-1;csnpatm-pcr39-1;csnpatm-pcr4-1;csnpatm-pcr40-1;csnpatm-pcr42-1;csnpatm-pcr43-1;csnpatm-pcr45-1;csnpatm-pcr46-1;csnpatm-pcr47-1;csnpatm-pcr48-1;csnpatm-pcr50-1;csnpatm-pcr55-1;csnpatm-pcr56-1;csnpatm-pcr6-1;csnpatm-pcr64-1;csnpatm-pcr7-1;csnpatm-pcr8-1 AT1;ATA;ATC;ATD;ATDC;ATE;DKFZp781A0353;MGC74674;TEL1;TELO1 A-T mutated;AT mutated;OTTHUMP00000232981;TEL1, telomere maintenance 1, homolog;ataxia telangiectasia mutated (includes complementation groups A, C and D);human phosphatidylinositol 3-kinase homolog;serine-protein kinase ATM APPROVED protein-coding ENSG00000149311 795 06347 114480;208900;607585 REVIEWED 6481163 ATP11A-AS1 ATP11A antisense RNA 1 100874205 AL356752 APPROVED miscrna 40645 1312698 ATOH7 atonal homolog 7 (Drosophila) This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011] 10 10 10 q21.3 63264910 63266384 - 69660387 69661861 - 69990352 69991870 - 1580863;6480464 21697133;14516699;12617822;12477932;11889557;22068589;20395239;20548946;21307088;22645276;21441919;21427129;23568457;16368877;22019371;22222511 220202 F1T0H4;Q8N100 AB593108;AB593109;ABBA01019557;AC016395;AF418922;AMYH01002800;BC032621;BK000277;BY797167;CH471083;H05728;NG_031934;NM_145178 AAH32621;AAL11911;ABM82115;ABM85298;BAJ84048;BAJ84049;DAA01057;EAW54269;NP_660161;Q8N100 Hs.175396;Hs.737072 Math5;bHLHa13 OTTHUMP00000019697;class A basic helix-loop-helix protein 13;hATH5;helix-loop-helix protein hATH-5;protein atonal homolog 7 APPROVED protein-coding ENSG00000179774 13907 09812 609875 REVIEWED 1345428 ATP10B ATPase, class V, type 10B 5 5 5 q34 156022604 156311791 - 159922705 160211797 - 159990127 160279219 - 1580863;6480464 11015572;9872452;15372022;14702039;12477932 23120 O94823;Q2YDW8 AB018258;ABBA01044214;ABBA01044215;ABBA01044216;ABBA01044217;AC008388;AC008456;AC011363;AC091928;AK024894;AK025130;AK025290;AK025294;AK090832;AK295081;AMYH01015761;AMYH01015762;AMYH01015763;BC018773;BC108322;NM_025153 AAI08323;AAI67815;BAA34435;BAB15074;BAC03528;BAG58123;NP_079429;O94823 Hs.109358 1338700;1646098;1675684;1700266;1739333;1780828;1781020;1785490;1848792;2163199 D5S1818E;D5S2693;D5S529;G16945;RH103750;RH91270;SHGC-153296;WI-22551;bac52337S;bac5784T ATPVB;FLJ21477;KIAA0715 OTTHUMP00000224263;probable phospholipid-transporting ATPase VB protein-coding ENSG00000118322 13543 08637 VALIDATED 1314601 ATP10A ATPase, class V, type 10A The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008] 15 15 q11.2 23474952 23659442 - 25923859 26108349 - 1580863;6480464 15489334;11353404;19086053;18726118;18186074;12477932;12105293;11326269;11015572;10482951;9628581;22610502;20609483;19851296;20198315;20379614;15071553;15919184;21209057;21901158 57194 G3V261;H0YJI4;O60312;Q4G0S9 AB011138;AB051358;ABBA01048696;ABBA01048697;ABBA01048698;ABBA01048699;ABBA01048700;AC016266;AC023449;AC109512;AMYH01006485;AMYH01006486;AY029487;AY029504;BC038712;BC052251;CH471151;NG_009282;NM_024490 AAH38712;AAH52251;AAK33100;ACE86498;ACE87179;BAA25492;BAB47392;EAW57647;EAW57648;EAW57649;EAW57650;NP_077816;O60312 Hs.659258 1342107;1704818;1709266;1762161;1769934;2149716 D15S986;SHGC-146053;SHGC-6183;SHGC-79879;SHGC-85824;STS-N35112 ATP10C;ATPVA;ATPVC;KIAA0566 ATPase type IV, phospholipid transporting (P-type);ATPase, Class V, type 10C;OTTHUMP00000246731;aminophospholipid translocase VA;phospholipid-transporting ATPase VA;probable phospholipid-transporting ATPase VA APPROVED protein-coding 13542 05790 605855 REVIEWED 737338 ATOX1 antioxidant 1 copper chaperone This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008] 5 5 q32 151102576 151118403 - 151122383 151138210 - 1580863;6480464 22574136;12029094;10497213;9430722;15670166;19146392;18685091;18558714;18416466;18245776;17881304;17616150;17545667;16571664;16172131;15761197;15489334;15476398;15146197;14709553;14702039;12763797;12686548;12679332;12594858;12477932;12420134;10982193;10966647;10557326;9083055;22677543;15133031;19453293;21258123;21482801;23000965;23169585;21139048;21890473;21906983;12968035;16573520;17919502;22648419 475 E5RGN3;E5RIM7;O00244 ABBA01026261;ABBA01026262;AC011374;AC091982;AK091843;AK293063;AMYH01015713;AY165037;AY986502;BC112248;BC112250;BI599233;BT009786;BU172675;CH471062;CN280769;CR456901;NM_004045 AAI12249;AAI12251;AAN84554;AAP88788;AAX81411;ADR82784;BAF85752;CAG33182;EAW61663;EAW61664;NP_004036;O00244 Hs.125213 1660691;1697224;1780978;1792390;1792392;1792394;2140111;2179422 PMC150598P1;PMC150598P2;PMC150598P3;RH102104;RH16152;RH46133;WI-18405;bac5571S ATX1;HAH1;MGC138453;MGC138455 ATX1 antioxidant protein 1 homolog;OTTHUMP00000224114;OTTHUMP00000224178;atx1 (antioxidant protein 1) homolog 1 (yeast);copper transport protein ATOX1;metal transport protein ATX1 APPROVED protein-coding ENSG00000177556 798 03779 602270 REVIEWED 1316047 ATP10D ATPase, class V, type 10D 4 4 4 p12 47936627 48044747 + 47182167 47290260 + 47487410 47595503 + 1580863;6480464 12532265;14702039;12477932;10819331;19798445;20379614;20877624;15071553;15919184;22359512;21890473 57205 H0Y8M7;Q6PEW3;Q9P241 AB040920;ABBA01014336;ABBA01014337;AC092597;AC107398;AJ441078;AK027598;AK074930;AMYH01014159;BC057839;BC131535;CH471069;NM_020453 AAH57839;AAI31536;BAA96011;BAB55221;BAC11299;CAD29577;EAW93036;EAW93037;NP_065186;Q9P241 Hs.437241 1645091;1687654;1720513;1759965;1760439;1760815;2218266 ATP10D_4041;D4S2808;G59210;RH93851;SHGC-111174;SHGC-142693;SHGC-144419 ATPVD;KIAA1487 OTTHUMP00000125285;probable phospholipid-transporting ATPase VD;type IV aminophospholipid transporting ATPase protein-coding ENSG00000145246 13549 16518 VALIDATED 1351598 ATP11C ATPase, class VI, type 11C X X X q27.1 139175990 139281918 - 138636171 138742113 - 138808505 138914447 - 1580863;6480464 15772651;15533723;14702039;12477932;11015572;10737800;8034313;15071553;15919184;16344560;21906983 286410 H7C0E8;H7C113;Q6ZUP7 AA829385;ABBA01066060;ABBA01066061;ABBA01066062;ABBA01066063;ABBA01066064;ABBA01066065;ABBA01066066;ABBA01066067;ABBA01066068;ABBA01066069;ABBA01066070;ABBA01066071;AJ580093;AJ580094;AK091552;AK093835;AK125474;AK125476;AK125986;AK131262;AL161777;AL356785;AMYH01023059;BC132728;BC132730;BX648320;BX648981;CH471150;D16467;DB348089;NG_016550;NM_001010986;NM_173694 AAI72372;BAC03692;BAC86172;BAC86377;BAD18440;CAE30472;CAE30473;EAW88424;EAW88425;NP_001010986;NP_775965;Q8NB49 Hs.88252 1700962;1702680;1702794;1708652;1781132;2218268 ATP11C_4391;RH104108;SHGC-85130;UniSTS:99496;sWXD1509;stdJ41P24T7 ATPIG;ATPIQ OTTHUMP00000024161;OTTHUMP00000215065;OTTHUMP00000215081;phospholipid-transporting ATPase IG;probable phospholipid-transporting ATPase IG protein-coding ENSG00000101974 13554 09814 300516 VALIDATED 1348822 ATP11B ATPase, class VI, type 11B P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005] 3 3 3 q27 180945823 181073871 + 183993985 184122117 + 182511291 182639423 + 1580863;6480464 11790799;11015572;16641997;15489334;14702039;12477932;10737800;10231032;15071553;15919184;21139048;21914794;23000965;23585472 23200 B4DKX1;B4E3T1;H0Y854;H0Y8C7;H7C4E6;H7C4W6;H7C575;Q9Y2G3 AB023173;ABBA01058490;ABBA01058491;AC069431;AC092953;AF156548;AK093727;AK296750;AK304855;AL133061;AMYH01013701;AMYH01013702;BC010630;BC033880;BC042180;BF372979;BI861412;BU431705;BX489704;BX537779;CH471052;DR000074;NM_014616 AAF09446;AAH10630;AAH33880;AAH42180;AAI48559;BAA76800;BAG52754;BAG59333;BAG65593;CAB61385;CAD97838;EAW78344;EAW78345;EAW78346;EAW78347;NP_055431;Q9Y2G3 Hs.478429 1646988;1647529;1697536;1697626;1852319;2131740;2151861 D3S4308;RH102274;RH102325;SHGC-14974;SHGC-36677;SHGC-53491;SHGC-77585 ATPIF;ATPIR;DKFZp434J238;DKFZp434N1615;KIAA0956;MGC46576 ATPase IR;OTTHUMP00000212751;OTTHUMP00000212753;probable phospholipid-transporting ATPase IF APPROVED protein-coding ENSG00000058063 13553 10432 605869 VALIDATED 1318606 ATP11A ATPase, class VI, type 11A The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q34 94169962 94366346 + 112392644 112589483 + 113344643 113541482 + 1580863;6480464 15533723;15057823;14702039;12477932;11015572;10470851;20043114;20379614;20858683;21139048;21890473;21906983 23250 A2A3G9;E9PEJ6;H0Y547;H0Y624;H0Y8F0;P98196;Q659C3;Q6PJ25 AB028944;ABBA01019851;ABBA01019852;ABBA01019853;AI703438;AK024264;AK025511;AK091253;AK128241;AL139384;AL161996;AL162711;AL356740;AL356752;AMYH01005388;AMYH01005389;AMYH01005390;AMYH01005391;BC008824;BC024154;BC035215;BC044649;BE675783;CH471085;NM_015205;NM_032189 AAH24154;AAI67794;BAA82973;BAB15157;CAH56364;EAX09171;NP_056020;NP_115565;P98196 Hs.29189 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tSG621758;stSG621759;stSG621760;stSG621761;stSG621762;stSG621764;stSG621765;stSG621766;stSG621769;stSG621770;stSG621771;stSG621772;stSG621773;stSG621774;stSG621775;stSG621776;stSG621777;stSG621778;stSG621779;stSG621780;stSG621781;stSG621785;stSG621786;stSG621787;stSG621788;stSG621789;stSG621792;stSG621793;stSG621794;stSG621795;stSG621796;stSG621797;stSG621798;stSG621799;stSG621800;stSG621801 ATPIH;ATPIS OTTHUMP00000018729;OTTHUMP00000062144;phospholipid-translocating ATPase;potential phospholipid-transporting ATPase IH;probable phospholipid-transporting ATPase IH APPROVED protein-coding ENSG00000068650 13552 12059 605868 REVIEWED 6481170 ATP13A4-AS1 ATP13A4 antisense RNA 1 100874215 AC048351 APPROVED miscrna 41095 6481175 ATP13A5-AS1 ATP13A5 antisense RNA 1 100874218 AC105057 APPROVED miscrna 41281 1343803 ATP13A5 ATPase type 13A5 3 3 3 q29 191408105 191511656 - 194475525 194579208 - 192992831 193096514 - 6480464 15925480;12975309 344905 C9JPQ4;Q4VNC0 ABBA01058289;ABBA01058290;ABBA01058291;AC105057;AK122613;AMYH01013771;AY358667;AY823163;BC033334;CH471052;NM_198505 AAI56653;AAQ89030;AAX24103;BAC85490;EAW78076;EAW78077;NP_940907;Q4VNC0 Hs.658032 1336972;1684212;1746979;1766725;1794772;2128638 D3S2480;D3S3590;G64904;PMC55343P6;RH93717;SHGC-149999 FLJ16025 OTTHUMP00000209190;P5-ATPase;probable cation-transporting ATPase 13A5 protein-coding ENSG00000187527 31789 18597 PROVISIONAL 1346317 ATP13A4 ATPase type 13A4 3 3 3 q29 191535006 191687743 - 194602560 194755390 - 193119866 193272696 - 1580863;6480464 15925480;14702039;12975309;12477932 84239 B3KU47;B7WPN9;F8W9W3;H0Y4Z2;H7C1P5;Q4VNC1 ABBA01058288;ABBA01058289;AC048351;AC092942;AC105057;AK095277;AK096510;AL512736;AMYH01013771;AY358110;AY823162;BC101496;BC143604;CH471052;NM_032279 AAI01497;AAQ88477;AAX24102;BAC04520;BAG53309;CAC21667;EAW78073;EAW78074;EAW78075;NP_115655;Q4VNC1 Hs.674423 DKFZp761I1011;MGC126545 OTTHUMP00000082701;OTTHUMP00000159149;P5-ATPase;cation-transporting P5-ATPase;probable cation-transporting ATPase 13A4 protein-coding ENSG00000127249 25422 12502 609556 VALIDATED 1353842 ATP13A3 ATPase type 13A3 ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008] 3 3 3 q29 192538810 192604327 - 195604692 195670257 - 194123403 194188968 - 1580863;5509063;6480464 21793738 17081983;16641997;16344560;16303743;15342556;14702039;12477932;11867234;8175911;8125298;19913121;20628086;21139048;21906983;22505724 79572 C9J7Z7;C9JAP7;H7C1U7;Q9H7F0 ABBA01001627;ABBA01001628;AC108676;AC125362;AJ306929;AK024639;AK075094;AK225064;AMYH01013780;BC037805;BC106085;BP313821;BX641098;DA852339;DR005713;DR423199;DV080200;NM_024524;Z24724 AAI66610;BAB14942;BAC11398;CAC84902;NP_078800;Q9H7F0 Hs.529609 1660951;1667394;1675736;1695348;1850916;2153394;2172863;2173361 G29192;RH78493;RH93590;SHGC-37559;SHGC-64151;SHGC-64859;SHGC-77686;STS-H48097 AFURS1;DKFZp686K16189;FLJ90613 ATPase family homolog up-regulated in senescence cells 1;OTTHUMP00000209099;probable cation-transporting ATPase 13A3 APPROVED protein-coding ENSG00000133657 24113 10636 610232 VALIDATED 1342911 ATP13A2 ATPase type 13A2 This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008] 1 1 p36 17185040 17210854 - 17312453 17338423 - 1580863;6480464;7240710 19224617;19097176;19085912;19015489;18785233;18413573;17485642;16964263;16710414;15489334;15381061;12477932;11584046;23205587;20853184;20816920;20669327;21060012;20310007;19705361;19806583;20036179;20137506;20189936;20227461;20483373;22743658;20976737;20842691;23284715;21362476;22285144;21094623;21665991;21900206;21724849;21542062;21714071;22457822;22490479;21139048;21890473;21906983;22442086;22647602;20301402;22186024;22296644;22104014;22388936;21696388;23499937;23121889;22847264;23000965;23196729;22117566;22645275;22768177 23400 H0Y8I1;H0Y8V5;H0Y8Z6;H0Y953;H0Y9K0;H0Y9K4;H0YAI7;Q9NQ11 ABBA01000262;AJ009947;AK025928;AK075310;AK290210;AL049569;AL354615;AL833966;AMYH01000294;AMYH01000295;AY461712;AY987009;BC030267;BC034575;CH471134;NG_009054;NM_001141973;NM_001141974;NM_022089 AAH30267;AAH34575;AAR23423;AAX88804;BAC11539;BAF82899;CAA08912;CAB89728;CAD38813;EAW94824;EAW94825;EAW94826;EAW94827;NP_001135445;NP_001135446;NP_071372;Q9NQ11 Hs.128866 1335476;1338577;1339307;1341324;1745757;2121681;2152546 D1S1592;D1S199;D1S2644;D1S2826;D1S3017;GDB:636056;UniSTS:28191 CLN12;FLJ26510;HSA9947;KRPPD;PARK9;RP1-37C10.4 OTTHUMP00000002399;OTTHUMP00000002400;OTTHUMP00000221711;probable cation-transporting ATPase 13A2;putative ATPase APPROVED protein-coding ENSG00000159363 30213 13677 606693;610513 REVIEWED 734042 ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 13 13 q12.12 24152695 24183918 + 25254549 25285923 + 704409;1580863;704405;1300048;6480464;6907045 11125071 8838794;16344560;15135233;15086469;12477932;12230809;12110518;11880279;9872395;8889548;8045293;3036582;3035563;2842249;1847115;19487957;19694409;20379614;15071553;17342744;22505724;22179016;21139048;21906983;22118674;21890473;21963094;21988832;22053931;23000965;23251661 479 B4E0R9;P54707 ABBA01007894;AK292968;AK303498;AL157364;AMYH01004976;BC031609;CA450333;CH471075;DB216724;DB232979;L42558;L42559;L42560;L42561;L42562;L42563;L42565;L42566;L42567;L42568;L42569;M16797;M27574;NM_001185085;NM_001676;U02076;X69823;X69824 AAA35576;AAA51802;AAB37755;AAC37589;AAH31609;ADZ15516;BAF85657;BAG64531;CAA49477;CAA49478;EAX08343;EAX08344;EAX08345;EAX08346;NP_001172014;NP_001667;P54707 Hs.147111 1339746;1737431;2135099 D13S742;D13S999;SHGC-12920 ATP1AL1 ATPase, Na+/K+ transporting, alpha polypeptide-like 1;ATPase, Na+K+ transporting, alpha-1 polypeptide-like;OTTHUMP00000018132;non-gastric H(+)/K(+) ATPase alpha subunit;non-gastric H(+)/K(+) ATPase subunit alpha;potassium-transporting ATPase alpha chain 2;proton pump;sodium/potassium ATPase, alpha polypeptide-like 1643387 BW328_H APPROVED protein-coding ENSG00000075673 13816 01667 182360 REVIEWED 1603000 ATP1A1OS ATP1A1 opposite strand 1 1 1 p13.1 115164113 115189870 - 116947336 116961205 - 116935487 116961244 - 6480464 12477932 84852 Q5TC04 ABBA01068487;AK309389;AK309872;AL136376;AMYH01000969;BC007373;BC018892;BC028281;BC069003;BC098428;BX389823;DC351073;NR_024124;NR_024125;NR_024126;NR_027645;NR_027646 Q5TC04 Hs.664752 1850718;2121808;2179949;2217046 A001Z44;AL009430;ATP1A1_2746;RH17421 C1orf203;MGC16179 APPROVED miscrna ENSG00000203865 28262 PREDICTED 1352922 ATP1B1P1 ATPase, Na+/K+ transporting, beta 1 polypeptide pseudogene 1 4 4 4 p13 42476543 42478723 + 41725983 41728033 + 42031102 42033282 + 2842249;2559024 485 ABBA01014279;ABBA01014280;AC113151;AMYH01014133;M25159;NG_001081 1744333;1852233 GDB:451712;SHGC4-259 ATP1BL1 APPROVED pseudo 809 INFERRED 1346886 ATP13A1 ATPase type 13A1 19 19 19 p13.11 19660082 19678574 - 19617009 19633925 - 19756007 19774503 - 6480464 17081983;16344560;16335952;15489334;14702039;12477932;11347906;19913121;20628086;21139048;21890473;21906983;21963094;22505724 57130 H7C3H2;Q9HD20 AB058728;ABBA01051338;AC011458;AF288687;AK026044;AK056420;AK074159;AK074798;AK074920;AK095287;AK123780;AK125861;AK130125;AK172778;AL834180;AMYH01009610;BC009302;BC069211;CH471106;DA103408;NM_020410 AAG01173;AAH09302;AAH69211;AAI56251;BAB15334;BAB47454;BAB84985;BAC11294;BAC85690;BAC86325;BAD18759;BAG51704;BAG53019;CAD38877;EAW84847;EAW84848;EAW84849;EAW84850;EAW84851;EAW84852;EAW84853;EAW84854;NP_065143;Q9HD20 Hs.501794 1686788 RH98505 ATP13A;CGI-152;DKFZp761L1623;FLJ31858;FLJ41786;FLJ43873;FLJ90317;KIAA1825 OTTHUMP00000202891;OTTHUMP00000202892;cation transporting ATPase;probable cation-transporting ATPase 13A1 protein-coding ENSG00000105726 24215 12501 VALIDATED 735332 ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 1 1 p21 116717359 116748919 + 116915795 116947396 + 1579863;1580863;1579862;6480464;6907045 14993422;8082931 11027149;15671290;1975705;19109419;19058785;18801933;18769045;18768923;18348163;18094063;17881356;17446437;17446412;17176442;17081065;16893516;16723354;16710414;16708288;16498080;16430714;16243970;16230337;15515123;15489334;15383549;15069082;14759258;14685860;14597563;14555664;14522987;12788896;12671055;12477932;12461183;12093728;12031509;11926353;11887161;11832419;11564973;11509477;11404365;11139403;10516168;10473631;9481617;9159180;8918259;8833915;8391840;7775468;7711835;7536695;3036582;3035563;3030810;2891135;2887455;2842249;20473970;22586326;2158121;1970326;19019082;16169070;2430951;16730713;16799092;17220478;19638348;19751721;19863947;19865785;20065300;20332111;15071553;19913121;20450619;20628086;20427472;21043236;20964587;21498719;21449573;21163940;21141520;11901144;23048038;23106098;23349050;16196087;16027165;22053931;22505724;22797925;19243476;21081666;22678362;23416519;20305087;18781797;21139048;21890473;21906983;21987572;21145461;21319273;22269832;22565168;19805454;21565611;21963094;22304920;22797923;23000965 476 Q5TC01;Q5TC02;Q5TC05;Q9UJ20 ABBA01068487;AK293689;AK295095;AK296362;AK296384;AK308418;AK314777;AL136376;AL531892;AMYH01000969;AY642124;AY946013;BC001330;BC003077;BC050359;BF795089;CH471122;DC335233;J03007;L76938;M16793;M16794;M27572;M27579;M30310;NM_000701;NM_001160233;NM_001160234;U16798 AAA35573;AAA35574;AAA51801;AAA51803;AAA92713;AAC50131;AAD56251;AAD56252;AAH01330;AAH03077;AAH50359;AAX55908;ABM82808;ABW03450;BAG37313;BAH11571;BAH11971;BAH12332;BAH12337;EAW56644;EAW56645;EAW56646;EAW56647;EAW56648;NP_000692;NP_001153705;NP_001153706;P05023 Hs.371889 1665482;1735892;1740783;1850718;2140790;2179949;2217046;5037552 A001Z44;AL009633;ATP1A1_2746;D1S1924E;D1S3311;D8S2279;RH17421;SHGC-75376 MGC3285;MGC51750 Na(+)/K(+) ATPase alpha-1 subunit;Na+, K+ ATPase alpha subunit;Na+/K+ ATPase 1;Na, K-ATPase, alpha-A catalytic polypeptide;Na,K-ATPase alpha-1 subunit;Na,K-ATPase catalytic subunit alpha-A protein;OTTHUMP00000013935;sodium pump 1;sodium pump subunit alpha-1;sodium-potassium ATPase catalytic subunit alpha-1;sodium-potassium-ATPase, alpha 1 polypeptide;sodium/potassium-transporting ATPase subunit alpha-1 APPROVED protein-coding ENSG00000163399 799 01662 182310 REVIEWED 6481283 ATP1B3-AS1 ATP1B3 antisense RNA 1 100874077 AC112504 APPROVED miscrna 40088 1348014 ATP1B3P1 ATPase, Na+/K+ transporting, beta 3 pseudogene 2 2 2 p16.1 60805127 60806664 - 60814700 60816713 - 60961525 60963062 - 9457675 484 ABBA01075337;AC012498;AF005898;AMYH01010379;NG_000849 AAB61675 1681616;1688931;1776229;2161471;5092612 G32213;RH12662;RH66571;RH66869;SHGC-16162 pseudo 807 INFERRED 733097 ATP1A4 ATPase, Na+/K+ transporting, alpha 4 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 q23.2 158387976 158423391 + 160121352 160156767 + 1580863;6480464;6907045 7809153;12112599;16894555;16710414;16344560;16175638;15489334;14702039;12763850;12477932;12119109;10764792;10227850;3036582;3035563;2887455;2158121;1981991;15071553;22505724;21906983;21145461 480 E9PRA5;Q13733 ABBA01016614;ABBA01016615;ABBA01016616;ABBA01016617;AF310646;AF352828;AF390027;AF421887;AF430843;AF459737;AF506797;AK098076;AK308286;AL121987;AL833335;AMYH01001451;AY039031;BC028297;BC036052;BC068570;BC094801;BX647234;CH471121;DB094047;M16796;NM_001001734;NM_144699 AAA51800;AAH28297;AAH94801;AAK72396;AAL35818;AAL66357;AAM20793;AAQ07964;BAC05228;EAW52737;EAW52738;NP_001001734;NP_653300;Q13733 Hs.662219 1687730;2110269 ATP1A4_8220;RH94243 ATP1A1;ATP1AL2;MGC25056 ATPase, Na+/K+ transporting, alpha polypeptide-like 2;Na(+)/K(+) ATPase alpha-4 subunit;Na+/K+ ATPase 4;Na+/K+ ATPase, alpha-D polypeptide;Na,K-ATPase subunit alpha-C;OTTHUMP00000029890;OTTHUMP00000231443;sodium pump 4;sodium pump subunit alpha-4;sodium-potassium ATPase catalytic subunit alpha-4;sodium/potassium-transporting ATPase alpha-4 chain;sodium/potassium-transporting ATPase subunit alpha-4 APPROVED protein-coding ENSG00000132681 14073 09541 607321 REVIEWED 735774 ATP1B1 ATPase, Na+/K+ transporting, beta 1 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010] 1 1 q24 167342571 167368584 + 169075947 169101960 + 1580863;6480464;6907045;7240710 2559024;19305409;19064610;18727914;17947299;16710414;16696853;16478973;16430714;16339171;16230337;15606899;15489334;15086469;14597563;12754519;12477932;12093728;7536695;7499094;3008098;2887455;2842249;2555225;2538450;11534180;11193188;2158121;1301170;16169070;19322201;19664334;20926452;12558975;16799092;18522992;19322565;19536175;19542013;19563793;19694409;20065300;20453000;21963094;23009595;15851553;15071553;19913121;20628086;16341674;21085665;21104370;19619434;21141520;23048038;21449573;21642423;22990118;20458337;21771789;21881522;21900206;23022198;22433860;21139048;19664597;23166209 481 A3KLL5;A6NGH2;B7Z9S8;P05026 AA507932;AA514770;ABBA01027954;ABBA01027955;AK290181;AK296059;AK316043;AL031726;AMYH01001488;AY545986;AY946016;BC000006;BE223067;BG702024;BM762099;BQ934151;BT009787;CD106723;CD722755;CH471067;CR407616;HI573972;M25160;NG_023230;NM_001677;U16799;X17161 AAA36352;AAC50132;AAH00006;AAP88789;AAT11781;AAX55911;BAF82870;BAG58822;BAH14414;CAA35040;CAG28544;CBX47475;EAW90832;EAW90833;NP_001668;P05026 Hs.291196 1652972;1664048;1742191;1744333;1769899;1847832;5017566;5491441 ATP1B1;GDB:193196;GDB:451712;MARC_12181-12182:1004710927:1;SHGC-75866;SHGC-75869;SHGC-75881;WI-14725 ATP1B;MGC1798 Beta 1-subunit of Na(+),K(+)-ATPase;Na, K-ATPase beta-1 polypeptide;OTTHUMP00000032537;OTTHUMP00000032538;adenosinetriphosphatase;atpase na+/k+ transporting beta 1 polypeptide;sodium pump subunit beta-1;sodium-potassium ATPase subunit beta 1 (non-catalytic);sodium/potassium-dependent ATPase beta-1 subunit;sodium/potassium-transporting ATPase beta-1 chain;sodium/potassium-transporting ATPase subunit beta-1 1643514;2289625 BW260_H;BW481_H APPROVED protein-coding ENSG00000143153 804 01663 145500;182330 REVIEWED 736008 ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008] 1 1 q23.2 158352172 158380005 + 160085520 160113381 + 1580863;1358436;1601253;1601250;1601251;1601252;1601254;6480464;6903342;6903354;6907045;7240710 12953268;11768735;16286513;16243970;14576983;11257061;18424620;15644428 12539047;10642400;19199261;19058785;19007941;18957371;18811707;18728015;18644608;18513263;18498390;18483709;18451712;18294248;18184292;18056581;18052210;18028456;18028407;17952365;17877748;17727731;17473835;17446412;17119788;16538223;16508935;16508934;16437583;16430714;16344560;16344534;16110494;16088919;16037212;16026932;15911117;15569317;21533730;15159495;15133718;14871878;14702039;14690302;14685860;14667076;12805306;12529322;12496141;12477932;11404365;10372716;9872452;9579893;9403481;9159180;8391840;8125298;3036582;3035563;2842249;2537767;2477373;2158121;15174025;15489334;15459825;15383549;15308625;15286158;15210532;19372756;19638348;19751721;19874388;20065300;20100892;20837964;20720542;15071553;19913121;20628086;20952631;21398422;22505724;22433860;20936682;21139048;21890473;21963094;21987572;22053931;22936730;23000965;21906983;22117059;20473970;22013243;20301562;21145461;22565168;22797923;22661290;23241943 477 B1AKY9;H0Y7C1;P50993 AB018321;ABBA01016617;AK091617;AK124581;AK126573;AK295048;AK295729;AK299460;AK308773;AK314296;AL121987;AL831991;AL831997;AMYH01001451;AY946014;BC013680;BC047533;BC052271;CH471121;DA221602;EB386326;J05096;M16795;M27578;NG_008014;NM_000702;Y07494 AAA35575;AAA51797;AAA51799;AAH52271;AAX55909;BAA34498;BAG36951;BAG52393;BAG54055;BAG54347;BAG58098;BAG58570;BAG61427;CAA68793;EAW52739;EAW52740;EAW52741;EAW52742;NP_000693;P50993 Hs.34114 1734480;1736294;1742449;1776972;1797306;1850249;2125014;2177301;5017576;5092630 A005C13;ATP1A2;ATP1A2_1794;D1S1763E;D1S2042E;G32224;GDB:197004;RH69645;SHGC-31641;WI-21610 FHM2;MGC59864;MHP2 Na(+)/K(+) ATPase alpha-2 subunit;Na+/K+ ATPase, alpha-A(+) catalytic polypeptide;Na+/K+ ATPase, alpha-B polypeptide;OTTHUMP00000025754;OTTHUMP00000029880;OTTHUMP00000038365;sodium pump subunit alpha-2;sodium-potassium ATPase;sodium-potassium ATPase catalytic subunit alpha-2;sodium/potassium-transporting ATPase alpha-2 chain;sodium/potassium-transporting ATPase subunit alpha-2 1643514;2289625 BW260_H;BW481_H APPROVED protein-coding ENSG00000018625 800 01665 104290;182340;602481 REVIEWED 732644 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 19 19 q13.31 47162574 47190222 - 42470734 42498428 - 1580863;1358437;6480464;6907045;7240710 9646882 15260953;19058785;18957371;18184478;17595045;17516473;17446412;17282997;17244347;16713569;15489334;15462673;14702039;12634653;12477932;10443882;8125298;3036582;3035563;3030810;2907504;2887455;2842249;2838329;2834163;2158121;20576601;19351654;19751721;20065300;15071553;16712791;21072501;20301294;21196491;21498719;21181095;22924536;22505724;21139048;21906983;21890473;21963094;21987572;22053931;23000965;23409136;23455922;23464991;22423096;22850527;22842232 478 M0QXF2;M0R116;P13637;Q53ES0 ABBA01040826;ABBA01040827;ABBA01040828;AC010616;AK054736;AK094628;AK122693;AK223569;AK293784;AK295078;AK295833;AK296557;AK307921;AK316069;AL832884;AMYH01009824;AY946015;BC009282;BC009394;BC013763;BC015566;BX478337;CB156520;CH471126;DB482528;M27577;M28286;M28293;M37457;NG_008015;NM_001256213;NM_001256214;NM_152296;X12910 AAA51798;AAA52285;AAA52286;AAA58380;AAH09282;AAH09394;AAH15566;AAX55910;ADZ15542;BAD97289;BAG51420;BAG52899;BAG53671;BAH11595;BAH11966;BAH12194;BAH12387;BAH14440;CAA31390;EAW57089;NP_001243142;NP_001243143;NP_689509;P13637 Hs.515427 1336425;1338187;1339937;1670845;1742439;2110889;2124404;2217048 ATP1A3_2763;D19S198;D19S265E;D19S587;D19S900;GDB:196994;RH78939;hsatpn22 AHC2;DYT12;MGC13276;RDP Na(+)/K(+) ATPase alpha(III) subunit;Na(+)/K(+) ATPase alpha-3 subunit;Na+/K+ ATPase 3;OTTHUMP00000174455;OTTHUMP00000174456;sodium pump 3;sodium pump subunit alpha-3;sodium-potassium ATPase catalytic subunit alpha-3;sodium-potassium-ATPase, alpha 3 polypeptide;sodium/potassium-transporting ATPase alpha-3 chain;sodium/potassium-transporting ATPase subunit alpha-3 APPROVED protein-coding ENSG00000105409 801 01666 128235;182350;614820 REVIEWED 736555 ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. [provided by RefSeq, Jul 2008] 17 17 p13.1 7494979 7501814 + 7554254 7561089 + 1580863;6480464;6907045 11027149;2538450;18676680;17683073;17411440;16865689;16430714;15489334;15294280;12539047;12477932;11193188;10662545;9524271;9159180;8918259;8889548;8305453;7711835;2158121;1699290;1688561;12958655;12558975;19170196;19625176;19692168;20065300;19764716;19371356;15071553;20937802;20656459;21196491;22675492 482 I3L1V9;I3L3J8;P14415 ABBA01054878;AC007421;AF007876;AK290143;AL120033;AL532023;AMYH01008085;AY946017;BC035801;BC126175;BG708115;BM664502;BM703745;BM925700;BQ718053;CD671350;CH471108;D87330;M81181;NM_001678;U45945 AAA51805;AAC39686;AAC50873;AAI26176;AAX55912;ADR82909;BAF82832;EAW90147;EAW90148;NP_001669;P14415 Hs.643540 1850743;2135612;2152420 G15933;RH11458;SGC31498 AMOG Na, K-ATPase beta-2 polypeptide;adhesion molecule on glia;sodium pump subunit beta-2;sodium-potassium ATPase subunit beta 2 (non-catalytic);sodium/potassium-dependent ATPase beta-2 subunit;sodium/potassium-dependent ATPase subunit beta-2;sodium/potassium-transporting ATPase beta-2 chain;sodium/potassium-transporting ATPase subunit beta-2 APPROVED protein-coding ENSG00000129244 805 01664 182331 REVIEWED 733031 ATP1B3 ATPase, Na+/K+ transporting, beta 3 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. [provided by RefSeq, Jul 2008] 3 3 3 q23 140019481 140069148 + 143078160 143128072 + 141595470 141645382 + 1580863;6480464;6907045 17353931;8798450;17446412;17176442;17081065;15489334;14702039;12754519;12477932;12456588;9457675;6289898;2158121;12558975;20065300;15071553;22990118;23022198;18781797;21139048;21890473;21906983;21987572 483 B7Z1N7;C9J6S2;C9JA36;C9JXZ1;F8WBY4;H7C4L9;H7C547;P54709 ABBA01059039;AC112504;AF005896;AK094673;AK131061;AK293697;AMYH01013545;AMYH01013546;AY946018;BC001469;BC011835;BI462090;CH471052;NM_001679;U51478 AAB61713;AAC50665;AAH11835;AAX55913;BAH11573;EAW78982;EAW78983;EAW78984;EAW78985;EAW78986;EAW78987;EAW78988;EAW78989;NP_001670;P54709 Hs.477789 1671816;1681616;1688931;1714123;1739303;1776229;1797308;2111079;2161471;5015961;5016478;5017227;5017266;5020881;5021872;5037552;5092612;5093834 A009X29;ATP1B3_1858;D15S1477;D3S1501E;D3S3294E;D8S2279;G32213;G32951;G38154;GDB:434012;L17709;L18506;RH119669;RH12662;RH66571;RH66869;SHGC-16162;sY3084 ATPB-3;CD298;FLJ29027 Na, K-ATPase beta-3 polypeptide;OTTHUMP00000214031;sodium pump subunit beta-3;sodium-potassium ATPase subunit beta 3 (non-catalytic);sodium/potassium-dependent ATPase beta-3 subunit;sodium/potassium-dependent ATPase subunit beta-3;sodium/potassium-transporting ATPase beta-3 chain;sodium/potassium-transporting ATPase subunit beta-3 APPROVED protein-coding ENSG00000069849 806 03521 601867 REVIEWED 6481035 ATP2B2-IT1 ATP2B2 intronic transcript 1 (non-protein coding) 100874324 AC018839 miscrna 41309 6481038 ATP2B2-IT2 ATP2B2 intronic transcript 2 (non-protein coding) 100874325 AC018502 miscrna 41310 736275 ATP1B4 ATPase, Na+/K+ transporting, beta 4 polypeptide This gene has been found in all vertebrate genomes sequenced to date. However, this gene has undergone a change in function in placental mammals compared to other species. Specifically, in fish, avian, and amphibian species, this gene encodes plasma membrane-bound beta-subunits of Na,K-ATPase. In placental mammals, the encoded protein interacts with the nuclear transcriptional coregulator SKIP and may be involved in the regulation of TGF-beta signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] X X X q24 119961554 119982718 + 119379995 119400254 + 119495940 119517104 + 631939;1580863;6480464;6907045 10456317 17592128;16430714;16344560;15489334;12477932 23439 B7ZKW0;Q9UN42 AA436959;ABBA01049595;ABBA01049596;ABBA01049597;ABBA01049598;AC006962;AF158383;AF158384;AK309999;AMYH01022918;BC117227;BC143404;BC143406;BC143407;CH471107;DA895576;NG_016773;NM_001142447;NM_012069 AAD49692;AAD49693;AAI17228;AAI43405;AAI43407;AAI43408;ADR83150;EAX11885;EAX11886;NP_001135919;NP_036201;Q9UN42 Hs.292599 1702010;1770317;1773399;5014003;5015861;5022450;5022576;5109281;7185938 AL008940;AL021884;D10S16;D10S275;D17S1136;D1S1361;D1S1425;DXS1320 Na,K-ATPase beta m-subunit;OTTHUMP00000023939;OTTHUMP00000023940;X,K-ATPase beta-m subunit;protein ATP1B4;x/potassium-transporting ATPase subunit beta-m APPROVED protein-coding ENSG00000101892 808 06453 REVIEWED 732893 ATP2A3 ATPase, Ca++ transporting, ubiquitous This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 17 17 p13.3 3773918 3814485 - 3827163 3867758 - 68726;6480464;6907045;7204695 11208768;19789383 8809064;17353931;17474147;19135027;19100511;18947868;18295663;18068335;16973504;16725111;16410239;16250893;15972967;15489334;15028735;12665801;12540840;12524443;12503734;12477932;12207029;11986315;11956212;9843705;9593748;8288608;22354994;21319273;19225163;19650915;15071553;19962989;22948776;22190034;22505724;21906983 489 A8K9K1;E9PFL6;Q6JHX1 AA643105;ABBA01054751;ABBA01054752;ABBA01054753;AC005940;AF068220;AF068221;AF458228;AF458229;AK292716;AMYH01008033;AY460339;BC035729;CH471108;NG_029041;NM_005173;NM_174953;NM_174954;NM_174955;NM_174956;NM_174957;NM_174958;S68239;Y15724;Y15737;Y15738;Z69880;Z69881 AAB29700;AAC24525;AAC24526;AAH35729;AAL78967;AAL78968;AAR15415;ABM84243;ABW03610;BAF85405;CAA75739;CAA75747;CAA75748;CAA93736;CAA93737;EAW90460;EAW90461;EAW90462;EAW90463;EAW90464;EAW90465;EAW90466;EAW90467;EAW90468;EAW90469;EAW90470;NP_005164;NP_777613;NP_777614;NP_777615;NP_777616;NP_777617;NP_777618;Q93084 Hs.513870 1694502;1736939;1848452;5019587;5092434;5092436 D17S1575;G42991;G54311;G54314;G54315;RH12619 SERCA3 ATPase, Ca(2+)-transporting, ubiquitous;SR Ca(2+)-ATPase 3;adenosine triphosphatase, calcium;calcium pump 3;calcium-translocating P-type ATPase;sarco/endoplasmic reticulum Ca2+ -ATPase;sarco/endoplasmic reticulum Ca2+ ATPase;sarcoplasmic/endoplasmic reticulum calcium ATPase 3 APPROVED protein-coding ENSG00000074370 813 03568 601929 REVIEWED 736839 ATP2B2 ATPase, Ca++ transporting, plasma membrane 2 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 p25.3 10342744 10466546 - 10365707 10547268 - 1580863;6480464;7204695;7240710 19789383 22349217;1313367;11259493;15829536;15765049;19379709;19299509;19043545;17488275;17234811;16216224;15926914;15101689;12784250;12763866;12624087;12477932;12107410;11786550;11274188;11152753;9697703;9668038;8634322;8428366;8245032;8187550;8162598;7989379;1827443;1427863;19850283;20379614;7929331;20211863;20663896;15071553;19913121;20628086;20971118;21672522;21757185;21906983;22047666;20301607;15123239;21890473;21963094;21987572;23000965;22053931 491 H0Y7S3;Q01814;Q4J699;Q4LE63 AA197323;AB210008;ABBA01020379;ABBA01025233;ABBA01025234;AC018839;AC022384;AC090841;AK308898;AL134596;AMYH01012969;BC019853;BC128575;BX489007;CA391502;CH471055;CK023951;DQ201777;DQ201778;FB292361;L00620;L20977;M97260;NG_012046;NM_001001331;NM_001683;R53305;S95738;S95743;S95758;U15688;X63575 AAA08376;AAA08377;AAA08378;AAA36456;AAA50877;AAA51893;AAA60985;ABG24241;ABG24242;BAE06090;CAA45131;CAP58599;EAW64079;EAW64080;EAW64081;EAW64082;EAW64083;EAW64084;NP_001001331;NP_001674;Q01814 Hs.268942 1666180;1694828;1726641;1727985;1730089;1730483;1735282;1848089;2114459;2139174;2140731;2144337;2153141;2157536;2218728 ATP2B2_4222;D3S1038;D3S2930E;D3S3381;D3S3903;D3S3990;D3S601;G10673;G43664;G62555;G63412;IB1403;NIB487;SHGC-76702;SHGC-76732 PMCA2;PMCA2a;PMCA2i OTTHUMP00000158863;OTTHUMP00000178534;OTTHUMP00000178535;OTTHUMP00000178537;OTTHUMP00000222615;plasma membrane Ca(2+)-ATPase;plasma membrane Ca2+ pump 2;plasma membrane calcium ATPase;plasma membrane calcium pump;plasma membrane calcium-transporting ATPase 2 APPROVED protein-coding ENSG00000157087 815 00160 108733;601386 REVIEWED 1353349 ATP3 ATPase, Mg++ transporting 494 818 731640 ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 16 16 p12.1 28797310 28823331 + 28889809 28915830 + 734618;6480464;6907045;7204695;7240710 8841193;19789383 9405806;8729696;9295312;12479237;19079260;19061639;18953100;18947188;17728322;17010426;16933204;16754798;16642550;16410239;16192278;15972723;15767202;15718407;14702039;14638697;12975374;12692302;12525698;12477932;11526231;11438520;10914677;10551848;9642673;9575189;9367679;8889548;8825625;2936465;2842876;1746562;12032137;21145461;11402072;1329967;19644701;8040329;15071553;21576492;22939629;22505724;17110338;21890473;21963094;22609207;21726808;21906983 487 B3KY17;H3BTF1;H3BTW4;H3BUT9;H3BUU3;H3BVB2;O14983;Q7Z675 ABBA01045684;ABBA01045685;AC109460;AC133550;AK092691;AK128456;AK291314;AMYH01007478;BC037354;BC104452;BC104453;BU737186;BX537389;BX537784;BX647365;BX647366;BX647367;BX647368;BX648544;BX649072;CH471267;HB975088;HD032498;NG_023327;NM_004320;NM_173201;U96773;U96781 AAB53112;AAB53113;AAH37354;AAI48654;BAF84003;BAG52597;BAG54679;CAD97631;CAD97841;CBG22289;CBV35450;EAW52006;NP_004311;NP_775293;O14983 Hs.657344 1681849;1690043;2110729 RH48558;SH2B_9440;SHGC-61052 ATP2A;SERCA1 OTTHUMP00000162561;OTTHUMP00000162562;SR Ca(2+)-ATPase 1;calcium pump 1;calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform;endoplasmic reticulum class 1/2 Ca(2+) ATPase;sarcoplasmic/endoplasmic reticulum calcium ATPase 1 APPROVED protein-coding ENSG00000196296 811 00157 108730;601003 REVIEWED 732984 ATP2B1 ATPase, Ca++ transporting, plasma membrane 1 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 12 12 q21.3 88505957 88573975 - 89981826 90049844 - 1580863;2317726;6480464;7204695 20137670;19789383 8396145;19430479;19396169;19144698;19070897;19017653;18929409;18657858;17081983;16933204;16669348;16488415;16412504;16328033;15911623;15101689;12851406;12784250;12477932;11786550;11152753;10748016;10493800;9110174;9020386;8889548;8634322;8619474;8386431;8245032;7989379;7694502;2844759;2548572;2528729;1827443;1674727;1332771;22751097;21572416;12763866;19840794;19892708;19960030;20414254;20479155;20921432;20700443;15071553;19913121;20628086;20852445;21045733;21126504;20811636;21400627;22190034;22229515;22246182;18781797;21139048;21890473;21906983;21987572;21909110;15123239;21963094;22053931;22113938;23000965;23079715 490 E7ERY9;F8W1V5;H0YHH6;P20020 AB208896;ABBA01053417;AC025034;AC068641;AF070606;AK024895;AK027053;AK308723;AMYH01004649;AY740526;BC015346;BM974301;CH471054;DQ201776;J04027;L14561;M25824;M95541;M95542;NG_029485;NM_001001323;NM_001682;S49852;U15686;U15687 AAA35999;AAA36000;AAA58381;AAA58382;AAA58383;AAA60983;AAA60984;AAA74511;AAB24324;AAD09924;AAD09925;AAH15346;AAV41065;ABG24240;BAD92133;EAW97429;EAW97430;EAW97431;EAW97432;EAW97433;EAW97434;NP_001001323;NP_001673;P20020 Hs.506276 1654807;1736312;1746519;1771020;1771327;2156005;2161885;2190515;2191429;2219018 ATP2B1_4221;D12S1250E;D12S2009;EST13H11;G64515;MARC_21823-21824:1025099477:1;RH45012;RH66423;WI-18859;WI-7734 PMCA1;PMCA1kb OTTHUMP00000242513;OTTHUMP00000242514;OTTHUMP00000242515;plasma membrane calcium ATPase;plasma membrane calcium pump;plasma membrane calcium-ATPase;plasma membrane calcium-transporting ATPase 1 APPROVED protein-coding ENSG00000070961 814 00158 108731 REVIEWED 732511 ATP2C2 ATPase, Ca++ transporting, type 2C, member 2 16 16 16 q24.1 68704219 68799880 + 82959634 83055294 + 84402133 84497793 + 6480464;7204695 19789383 18676988;16332677;15831496;15677451;14702039;9734811;20887894;15071553;18839057;19646677;20379614;21906983;23144326 9914 E7ES94;H3BS90;O75185;Q5HYC3 AB014603;ABBA01016911;ABBA01016912;ABBA01016913;AC010551;AC022165;AK025424;AK091051;AK092737;AK300526;AK316128;AMYH01007868;AMYH01007869;AY791884;BX648333;CH471114;CR749829;NM_014861 AAI56685;AAV54193;BAA31678;BAG52269;BAG62238;BAH14499;CAH18686;CAI46049;EAW95483;EAW95484;EAW95485;NP_055676;O75185 Hs.6168 1643914;1682607;1703206;1776930;2162088;2182413 D16S2951;RH36547;RH65309;SGC31818;SHGC-60885;STS-N48584 DKFZp686H22230;KIAA0703;SPCA2 ATPase 2C2;calcium-transporting ATPase type 2C member 2;secretory pathway Ca(2+)-ATPase 2;secretory pathway calcium ATPase 2 protein-coding ENSG00000064270 29103 13812 613082 VALIDATED 731628 ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] X X q28 152454774 152501581 + 152801580 152848387 + 1580863;6480464;7204695;7240710 19789383 12784250;8765088;18029348;17336174;15101689;14702039;10854409;8889548;8634322;8245032;8187550;7989379;1531651;12477932;11152753;19733838;15071553;20811636;22912398;21906983;21987572;21890473;21963094;23000965;23416519 492 Q16720;Q6ZP23 ABBA01045383;ABBA01045384;ABBA01045385;ABBA01045386;AF274858;AK090838;AK094500;AK130194;AK307765;AK308705;AMYH01023294;AMYH01023295;BC047580;BC130009;BG739902;BM680649;BM695792;BM805938;BM986989;BQ878721;BU183973;BU790224;BU790521;CH471172;DQ201779;NG_015896;NM_001001344;NM_021949;U15689;U15690;U57971;U60414;U82695 AAA60986;AAA60987;AAB09762;AAB38530;AAI30010;ABG24243;BAC85302;EAW72858;EAW72859;EAW72860;NP_001001344;NP_068768;Q16720 Hs.533956;Hs.658008 1649035;1683287;1777455;2166189 A006S03;DXS7001E;RH80841;WI-15046 PMCA3;PMCA3a;SCAX1 OTTHUMP00000025916;OTTHUMP00000025917;OTTHUMP00000025918;OTTHUMP00000214897;plasma membrane calcium ATPase;plasma membrane calcium pump;plasma membrane calcium-transporting ATPase 3 APPROVED protein-coding ENSG00000067842 816 02057 300014;302500 REVIEWED 734000 ATP4A ATPase, H+/K+ exchanging, alpha polypeptide The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008] 19 19 q13.1 40732935 40746400 - 36041095 36054560 - 1580863;6480464;6907045 2160952;18772363;15962365;15057824;14743830;10336993;9017763;8279517;8125298;3036582;2176086;1330887;19705497;15071553;21906983;21890473;21963094;23317218 495 M0R249;P20648;Q658V6 ABBA01018746;AC002389;AD000090;AK058032;AK223259;AK308474;AL832971;AMYH01009728;J05451;M27575;M63962;NM_000704 AAA35577;AAA35988;AAA51010;AAB50172;AAB64182;AAI67780;BAD96979;CAH56338;NP_000695;P20648 Hs.36992 1857766;2190491;2218732 ATP4A;ATP4A__4392;D19S1084 ATP6A ATPase, H+/K+ transporting, alpha polypeptide;H(+)-K(+)-ATPase alpha subunit;OTTHUMP00000045780;gastric H(+)/K(+) ATPase subunit alpha;gastric H+/K+ ATPase alpha subunit;gastric H,K-ATPase alpha subunit;gastric H,K-ATPase catalytic subunit;gastric hydrogen-potassium ATPase;potassium-transporting ATPase alpha chain 1;proton pump APPROVED protein-coding ENSG00000105675 819 00668 137216 REVIEWED 1352266 ATP5A1P2 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 2 2 2 q24.1 149739572 149739978 + 156126143 156126549 + 9284928 504 ABBA01004822;AC092662;AMYH01011186;NG_008671 ATP5AP2 APPROVED pseudo 828 INFERRED 731733 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008] 12 12 q24.11 109203815 109273278 + 110719032 110788898 + 734619;6480464;6903963;6904139;6771209;6904140;6904142;6892953;6907045;7204695;7240710 10080178;21691940;21300842;21441944;21217071;18046670;21216827;19789383 12804600;2844796;19095005;19327826;19252085;18979109;18971376;18953100;18482030;18464913;18295663;18279980;18164028;18071073;18068335;17635506;17597815;17588601;17526652;17515962;17506935;17439322;17395056;17257557;17234728;17116488;17081983;17009399;16987514;16973504;16965263;16958257;16899508;16766529;16754798;16675202;16669348;16552539;16410239;16402920;16368801;15927817;15718407;15582584;15489334;15316170;15302935;15215242;15186327;14749390;14702039;14638697;12975374;12925205;12805933;12670936;12659872;12542527;12479238;12477932;12072062;18658259;18591429;11945024;11854448;11725862;11526231;11402072;11244492;11121153;10809745;10441325;10441324;10441323;9788433;9295312;22360692;19322201;20473970;22779921;19019082;12032137;17353931;8406504;7929371;15489859;20857128;15972723;20586837;17314412;21145461;19502158;19541629;19644701;19649297;19650915;19671701;20139366;20223560;20528919;20423818;15071553;19913121;20204653;20628086;20687374;19962989;20716843;20964649;21156808;21195084;16196087;23229631;21152695;21515674;23337962;23455922;23464991;23798571;21616533;22814319;22939629;22990118;21527373;21252943;21878908;21900893;22053931;22174317;22190034;22505724;22586326;22679139;22096575;17110338;19805454;21963094;22304920;23000965;23066896;23438482;18781797;21081666;21139048;21343306;21519848;21890473;21906983;21987572;22004489;22247554;22240811;22277942;22045735;23055483;22329366;22909361;23024360 488 F8VQW7;F8VSH0;F8W1Z7;H7C5W9;J3QSY6;P16615 ABBA01005097;ABBA01005098;AC006088;AK000300;AK095382;AK293877;AL117505;AMYH01004739;AY186578;BC035588;BC065753;BG773489;BI553880;BX648282;CH471054;M23114;M23115;M23116;M23278;NG_007097;NM_001681;NM_170665 AAA52757;AAA52758;AAA53193;AAA53194;AAH35588;AAO47398;BAG57266;EAW97902;EAW97903;EAW97904;EAW97905;EAW97906;EAW97907;NP_001672;NP_733765;P16615 Hs.506759 1650439;1669120;1675985;1736188;1736242;1855181;1855183;2191515;2218270;5093682;5491770 ATP2A2;ATP2A2__4219;D12S1133E;D12S1188E;D12S1965;D12S2026;G15902;G32862;MARC_24304-24305:1030108971:1;RH67554;WI-18984 ATP2B;DAR;DD;DKFZp686P0211;FLJ20293;FLJ38063;MGC45367;SERCA2 ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2;OTTHUMP00000240820;OTTHUMP00000240822;OTTHUMP00000246198;SR Ca(2+)-ATPase 2;calcium pump 2;calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform;cardiac Ca2+ ATPase;endoplasmic reticulum class 1/2 Ca(2+) ATPase;sarcoplasmic/endoplasmic reticulum calcium ATPase 2 APPROVED protein-coding ENSG00000174437 812 00161 101900;108740;124200 REVIEWED 1350409 ATP5A1P1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 1 9 9 p12 41006334 41020100 + 41016328 41030100 + 9284928;9284928 642545 ABBA01001536;ABBA01001537;BX248112;NG_016587 ATP5AP1 APPROVED pseudo 827 INFERRED 3340246 ATP5A1P10 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 10 9 9 q13 65780742 65799955 + 66058841 66060270 + 100132619 AMYH01021019;CR788261;CR788267;NG_028188 pseudo 37668 INFERRED 1343558 ATP5A1P3 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 3 16 16 16 q22.2 56352912 56354761 - 70596437 70598093 - 72038802 72040651 - 9284928 645443 ABBA01016796;AC009127;AMYH01007795;NG_008672;NG_016271 1649084;1736560 D16S2555E;STS-AA020987 ATP5AP3 APPROVED pseudo 829 INFERRED 1346824 ATP5A1P4 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 4 14 q23.2 63070831 63072440 - 100129782;493822 ABBA01018313;AL389895;AMYH01005784;NG_022842 ATP5AP4 APPROVED pseudo 23563 INFERRED 1348952 ATP2B4 ATPase, Ca++ transporting, plasma membrane 4 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 q32.1 201862551 201979832 + 203595915 203713209 + 1580863;6480464;1599351;7204695 17092653;19789383 2137451;10748016;19287093;19034380;18657858;17957572;17883705;17393022;17242280;16978418;16973504;16412504;16381901;16216224;16080782;15955804;15489336;15292209;15145946;15133509;15101689;12944246;12784250;12540962;12511555;12477932;11751908;11591728;11274188;11230166;11152753;11076863;9880546;9182531;9105688;8700162;8670083;8634322;8245032;7989379;7945253;2966397;2963820;1674727;1531651;1313367;12763866;9430700;22767601;10737800;21167220;19073225;19536175;19755660;19996092;20379614;22895189;15071553;21073872;20211863;21139678;22525089;22747683;21139048;21890473;21906983;22480210;18591664;15123239;23000965;23263863;23444010;22505724;23266958 493 H0YDG5;H7BY13;H7BZS8;P23634 ABBA01027472;ABBA01027473;AC114402;AK026443;AK292458;AK307104;AL513343;AL601702;AL706212;AMYH01001656;AMYH01001657;AW888226;BC062445;BC140774;BC150293;BF740130;BF985985;BX537444;BX537745;BX647701;CH471067;CR749393;CR936708;DN997129;DQ201780;DQ201781;M25874;M83363;NG_029589;NM_001001396;NM_001684;U42026;U42061;U42062;U42378 AAA36455;AAA50819;AAB17577;AAB17578;AAB17579;AAB17580;AAI40775;AAI50294;ABG24244;ABG24245;BAF85147;CAD97686;CAH18241;CAL38204;CAL38232;EAW91483;EAW91484;EAW91485;EAW91486;EAW91487;NP_001001396;NP_001675;P23634 Hs.343522;Hs.733333 1335881;1651901;1692748;1858385;2128491;2128769;2132616;2132618;2140460;2140745;2149681;2155418;2160440;5115016;7185266 A001V38;AL034138;D1S2376;D1S387;D1S510;G19696;RH63844;RH64618;RH64645;SHGC-12393;SHGC-56960;SHGC-76187;SHGC-76189;SHGC-76196 ATP2B2;DKFZp686G08106;DKFZp686M088;MXRA1;PMCA4;PMCA4b;PMCA4x OTTHUMP00000034088;OTTHUMP00000034089;matrix-remodeling-associated protein 1;matrix-remodelling associated 1;plasma membrane calcium ATPase;plasma membrane calcium pump;plasma membrane calcium-transporting ATPase 4;sarcolemmal calcium pump APPROVED protein-coding ENSG00000058668 817 00159 108732 REVIEWED 3277921 ATP5A1P7 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 7 9 9 p11.2 46792673 46839325 + 46998210 46999499 + 442415 ABBA01183881;BX664724;NG_028724 pseudo 37665 INFERRED 1354259 ATP5A1P5 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 5 9 9 p12 43294530 43341311 + 43399996 43401450 + 8168843 442416 ABBA01008832;AMYH01020252;BX649597;NG_016580 ATP5AL1 APPROVED pseudo 825 INFERRED 3516327 ATP5A1P9 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 9 9 p13.1 39654254 39655518 - 100289279 AL590812;BX088645;NG_027892 pseudo 37667 INFERRED 1346333 ATP5A2 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle 1830491 499 824 2816813 ATP5A1P6 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 6 9 9 p11.2 44432274 44500253 + 44558961 44560251 + 643860 AL162415;BX088651;NG_021106 pseudo 37664 INFERRED 1342586 ATP5BL2 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide-like 2 508 832 3498034 ATP5A1P8 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 8 9 9 p12 41789252 41835883 - 41799224 41800556 - 392322 BX296545;NG_027840 pseudo 37666 INFERRED 1346159 ATP5BP1 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide pseudogene 1 2 2 q11.2 93026500 93028283 + 98822584 98824367 + 7798271;2687158;7798271;9847074 507 ABBA01073969;AC018691;AMYH01010797;NG_021261 ATP5BL1;ATPMBL1;ATPSBL1 APPROVED pseudo 831 INFERRED 1345569 ATP5C1P1 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 pseudogene 1 14 14 14 q22.2 34507371 34508463 - 53527568 53528463 - 54457649 54458741 - 631859 8168843 23259602 645560 ABBA01018189;AL138479;AMYH01005742;NG_004656 ATP5C2;ATP5CL2 APPROVED pseudo 834 INFERRED 737185 ATP4B ATPase, H+/K+ exchanging, beta polypeptide The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008] 13 13 q34 113351120 113360502 - 114303119 114312513 - 1580863;1300048;6480464;6907045 1656976;18787507;16341674;15489334;15155714;14743830;14685860;12651853;12477932;10722662;10336993;9315713;9017763;7900835;2160952;1335958;11865975;16344560;19694409;15071553;15057823;21963094;21988832;23317218 496 P51164 AB008783;ABBA01019874;AK310129;AL442125;AMYH01005404;BC029059;BC042846;BI764514;BM782259;BM923761;BX100065;BX537316;CH471085;DA964061;M75110;NM_000705 AAA35987;AAH29059;ABM81743;ABM84899;BAA23425;EAX09220;EAX09221;NP_000696;P51164 Hs.434202 2134093;7186188 STS-M75110 ATP6B ATPase, H+/K+ transporting, beta polypeptide;OTTHUMP00000178856;gastric H(+)/K(+) ATPase subunit beta;gastric H+/K+ ATPase beta subunit;gastric hydrogen-potassium ATPase, beta;potassium-transporting ATPase beta chain;potassium-transporting ATPase subunit beta;proton pump beta chain APPROVED protein-coding ENSG00000186009 820 00669 137217 REVIEWED 1344555 ATP5EP1 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 1 4 4 4 q25 103752668 103753086 + 106672994 106673412 + 106453545 106453963 + 1302227 10727396 23744 ABBA01063735;AC004066;AF277095;AMYH01014443;NG_002691 pseudo 839 INFERRED 2291819 ATP5EP2 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 13 13 13 q12 9594402 9594769 + 27417343 27417710 + 28519343 28519710 + 6480464 432369 Q5VTU8 ABBA01035737;AL591024;AMYH01004992;EC567419;EC579276;NR_002162 Q5VTU8 Hs.574118 pseudo ENSG00000180389 34026 VALIDATED 733912 ATP2C1 ATPase, Ca++ transporting, type 2C, member 1 The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 3 3 q22.1 132096124 132218246 + 130569369 130735556 + 1580863;704409;6480464;7204695;7240710 11125071;19789383 20403116;12810057;10615129;12761501;14632183;14632182;11741891;12804581;19144698;19126050;18709316;18372165;18266684;18259764;18247307;18211433;18205868;17911984;17503064;16644186;22124882;16621454;16540292;16484827;16332677;16303743;16297192;16192278;15955096;15811949;15623514;16344560;22639968;15545997;15489334;15336968;15191544;14747290;14702039;12707275;12477932;11966689;11874499;11841554;11124703;10767338;10718198;7981684;20363212;20837466;19426624;19775426;20226632;20237496;15071553;20055875;20236194;21187401;20604898;21571222;22543864;21139048;21890473;21906983;21883398;19322201;21963094;22607350;23000965;22505724 27032 B4E295;B4E2Q0;D6R9U9;D6REJ1;D6RGE9;D6RHV9;E7ERC6;H0Y8X9;H0Y9S7;H0Y9V7;H0YAH2;Q86V73 AB037768;AB209265;ABBA01059198;ABBA01059199;ABBA01059200;AC055733;AC097105;AF181120;AF181121;AF189723;AF225981;AJ010953;AK001684;AK074692;AK296470;AK299945;AK304175;AK304374;AK314342;AL833453;AMYH01013492;AMYH01013493;AY268374;AY268375;BC028139;BF669202;BF675663;BQ220831;BU188061;CH471052;DA405579;DC343471;DC345627;DC422788;HB975274;HD032684;NG_007379;NM_001001485;NM_001001486;NM_001001487;NM_001199179;NM_001199180;NM_001199181;NM_001199182;NM_001199183;NM_001199184;NM_001199185;NM_014382 AAF26295;AAF26296;AAF27813;AAF35375;AAH28139;AAP30008;AAP30009;ABW03701;BAA91835;BAA92585;BAC11142;BAD92502;BAG36984;BAG61775;BAG65057;BAG65212;BAH12365;CAA09425;CBG22382;CBV35543;EAW79217;EAW79218;EAW79219;EAW79220;NP_001001485;NP_001001486;NP_001001487;NP_001186108;NP_001186109;NP_001186110;NP_001186111;NP_001186112;NP_001186113;NP_001186114;NP_055197;P98194 Hs.584884 1653432;1670035;1748725;2106501;2113722;2126376;2136188;2136962;2156750;2173839;2218730 A002S47;AB060927;ATP2C1_3811;HT001__6609;RH11905;RH11935;RH12102;RH78727;SHGC-110366;SHGC-77338;SHGC-77341 ATP2C1A;BCPM;HHD;KIAA1347;PMR1;SPCA1;hSPCA1 ATP-dependent Ca(2+) pump PMR1;ATPase 2C1;ATPase, Ca(2+)-sequestering;HUSSY-28;OTTHUMP00000216066;OTTHUMP00000216067;OTTHUMP00000216068;OTTHUMP00000216069;OTTHUMP00000216070;OTTHUMP00000216071;OTTHUMP00000216072;OTTHUMP00000216073;OTTHUMP00000216074;OTTHUMP00000216075;OTTHUMP00000216076;OTTHUMP00000216253;atpase, ca++-sequestering;calcium-transporting ATPase type 2C member 1;secretory pathway Ca2+/Mn2+ ATPase 1 APPROVED protein-coding ENSG00000017260 13211 05089 169600;604384 REVIEWED 5129377 ATP5F1P1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 1 13 13 33221775 33222795 + 52172576 52173596 + 100422523 ABBA01051050;AL139183;NG_024928 pseudo 39742 INFERRED 5129401 ATP5F1P2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 2 7 7 7 q21.3 89066180 89066987 + 94205902 94206709 + 94367966 94368773 + 645973 AACC02000013;ABBA01045781;AC104700;AMYH01017697;CH236949;NG_009430 pseudo 39743 INFERRED 5129405 ATP5F1P3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 3 7 7 7 q36.1 147010922 147011685 + 152076981 152077756 + 152446057 152446820 + 644333 ABBA01035114;AC092180;AMYH01018154;NG_022578 pseudo 39744 INFERRED 5129378 ATP5F1P4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 4 2 2 147630009 147630766 + 154015452 154016209 + 100422514 ABBA01004800;AC011901;AMYH01011182;NG_023742 pseudo 39745 INFERRED 5129394 ATP5F1P5 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 5 11 11 11 q24.1 119990429 119991187 + 122336090 122337006 + 122831035 122831793 + 100128516 ABBA01031278;AMYH01004095;AP003040;NG_021837 pseudo 39746 INFERRED 5129403 ATP5F1P6 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 6 6 6 6 q24.1 140675572 140676335 - 139977268 139978001 - 139935578 139936341 - 645440 ABBA01025787;AL390205;AMYH01016709;NG_022330 pseudo 39747 INFERRED 5129412 ATP5F1P7 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 7 16 16 16 q23.1 60037302 60038058 - 74300455 74301214 - 75742957 75743713 - 124496 ABBA01017056;AC025287;AMYH01007821;NG_022506 pseudo 39748 INFERRED 734400 ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012] 18 18 q21 41918108 41938197 - 43664110 43684199 - 1300048;1580863;6480464;6907045 12110673;17643490;10077593;11410595;4517936;1830491;19405953;19110265;16714292;16378738;16344560;15952740;15862967;15489334;15324660;14749816;14702039;12614671;12477932;11741979;11381144;9834036;9461222;9284928;8428659;8168843;8086450;8065448;7498159;1602151;17620599;19531213;21145461;21319273;21979464;17148452;19016746;19064571;19261598;19343720;19717637;20381070;20819778;20877624;12601813;18850735;21481781;23055519;20462248;23181366;15047060;16196087;19135240;20186120;20618440;21817160;22098431;21832049;22939629;15161933;17623298;18457437;18781797;19596686;21081666;21139048;21825151;21890473;21906983;21987572;21110914;22188235;16009940;20473970;21575865;21628590;23395605;19738201;20085233;21080425;21565611;21963094;21988832;22113938;23000965;23246001;23596069;23398456;23599390;22268729;22505724;22944692 498 B4DY56;K7EJP1;K7EK77;K7EKV9;K7EM08;K7ENJ4;K7ENP3;K7EQH4;K7EQU6;K7ERX7;K7ESA0;P25705 ABBA01022325;AC012569;AK092735;AK098765;AK129739;AK129804;AK129900;AK289457;AK294804;AK302272;AK310051;AMYH01008971;AMYH01008972;AU120644;AU143001;AW205533;AW207528;BC003119;BC007299;BC008028;BC011384;BC016046;BC019310;BC028335;BC035703;BC039135;BC042694;BC064562;BC067385;BT007209;CD244623;CH471088;CK002707;D14710;D28126;NM_001001935;NM_001001937;NM_001257334;NM_001257335;NM_004046;X59066;X65460 AAH03119;AAH07299;AAH08028;AAH11384;AAH16046;AAH19310;AAH39135;AAH64562;AAH67385;AAP35873;AAP36942;ABM85136;ABM92174;BAA03531;BAA05672;BAF82146;BAG52604;BAG57924;BAG63618;CAA41789;CAA46452;EAX01471;NP_001001935;NP_001001937;NP_001244263;NP_001244264;NP_004037;P25705 Hs.298280 1649084;1736560;1776819;1793330;5020274;5022322;5024761;5037552 D11S2560;D16S2555E;D8S2279;L18441;PMC20944P1;RH11585;RH36905;STS-AA020987 ATP5A;ATP5AL2;ATPM;MC5DN4;MOM2;OMR;ORM;hATP1 ATP synthase alpha chain, mitochondrial;ATP synthase subunit alpha, mitochondrial;ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle;ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2;ATP sythase (F1-ATPase) alpha subunit;OTTHUMP00000163475;mitochondrial ATP synthetase, oligomycin-resistant;mitochondrial h+-atp synthase alpha subunit APPROVED protein-coding ENSG00000152234 823 01258 164360;615228 REVIEWED 1346801 ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011] 20 20 20 q13.32 54344154 54347843 - 57037128 57040817 - 57603733 57607422 - 1302227;1580863;6480464;6907045 10727396 12110673;4517936;19016746;15489334;14749816;12477932;11780052;11173840;10931946;9834036;9461222;2137333;20026007;16712791;20877624;16344560;21988832;21890473;16236267 514 P56381 ABBA01005967;AF052955;AF077045;AK026556;AK315493;AL109840;AMYH01012024;BC001690;BC003671;BC070167;BC105811;BT007293;CB106920;CH471077;DA202623;NG_031871;NM_006886 AAD27778;AAF72736;AAH01690;AAH03671;AAI05812;AAP35957;BAG37877;EAW75444;EAW75445;EAW75446;NP_008817;P56381 Hs.177530 1644487;1657577;1714297;2181462;5023463 RH119929;RH36304;RH78170;STS-N30323;STS-R77463 ATPE;MC5DN3;MGC104243 ATP synthase subunit epsilon, mitochondrial;ATPase subunit epsilon;F(0)F(1)-ATPase;H(+)-transporting two-sector ATPase;OTTHUMP00000031404;OTTHUMP00000174442;mitochondrial ATP synthase epsilon chain;mitochondrial ATPase APPROVED protein-coding 838 05856 606153;614053 REVIEWED 1347596 ATP5G1P1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 1 14 14 14 q32.33 86055966 86056512 - 105074029 105074775 - 106003083 106003629 - 319136 ABBA01008884;AL928742;AMYH01006084;NG_002514 ATP5GP3 APPROVED pseudo 19815 INFERRED 1353040 ATP5D ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 1175982 1179057 + 1192749 1195824 + 1241749 1244824 + 1580863;6480464;6907045 12539966;12110673;1531933;4517936;12887009;15489334;15057824;14749837;14749816;14702039;12477932;11533724;9834036;9657145;1286669;21319273;22939629;22623531;21139048;22190034 513 P30049 ABBA01002634;AC004221;AK094357;AMYH01009235;BC002389;BC004426;BC018079;BC018817;BC050458;BC058927;CH471139;CR542218;NM_001001975;NM_001687;S87916;S87918;X63422;X63423 AAA08055;AAC04304;AAH02389;AAH04426;AAH18079;ABB76284;CAA45016;CAA45017;CAG47014;EAW69531;EAW69532;EAW69533;EAW69534;NP_001001975;NP_001678;P30049 Hs.418668 1681596;5015619;5021872 D11S3114;RH80863;sY3084 ATP synthase subunit delta, mitochondrial;F-ATPase delta subunit;mitochondrial ATP synthase complex delta-subunit precusor;mitochondrial ATP synthase, delta subunit APPROVED protein-coding ENSG00000099624 837 04397 603150 REVIEWED 1351129 ATP5G1P2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 2 14 14 14 q12 11654826 11655393 - 30858978 30859702 - 31789327 31789894 - 319137 ABBA01061419;AL139353;AMYH01005642;NG_002515 ATP5GP4 APPROVED pseudo 19817 INFERRED 732616 ATP5C1 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008] 10 10 p15.1 7870099 7889770 + 7830093 7849764 + 631859;1300048;1580863;6480464;6907045 8168843 12110673;8227057;4517936;12887009;17686786;16169070;15489334;15164054;14749837;14749816;12477932;11744705;11533724;9834036;9657145;9461222;8065448;17207965;20877624;16385451;19064571;19834535;21145461;21832049;22939629;16196087;17314511;19167051;20186120;19531499;21139048;21890473;21906983;19738201;21963094;21988832;23395605 509 B4DL14;P36542;Q8TAS0 ABBA01034735;AK292896;AK294061;AK296803;AL158044;AL353754;AMYH01002013;BC000470;BC000931;BC010380;BC013394;BC013865;BC016812;BC020824;BC026049;BQ893894;CH471072;CR457403;D16561;D16562;D16563;NM_001001973;NM_005174 AAH00470;AAH00931;AAH13394;AAH16812;AAH20824;AAH26049;ADQ32623;BAA03994;BAA03995;BAA03996;BAA03997;BAF85585;BAG57407;BAG59376;CAG33684;EAW86372;EAW86373;NP_001001973;NP_005165;P36542 Hs.271135 5017182;5120942 RH1622;RH65246 ATP5C;ATP5CL1 ATP synthase gamma chain, mitochondrial;ATP synthase subunit gamma, mitochondrial;F-ATPase gamma subunit;OTTHUMP00000019068;OTTHUMP00000019069;mitochondrial ATP synthase, gamma subunit 1 APPROVED protein-coding ENSG00000165629 833 00156 108729 REVIEWED 4892171 ATP5G1P6 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 6 18 q21.3 61164175 61164731 + 100505704 ABBA01056222;AC036176;AMYH01009056;NG_028974 pseudo 39509 INFERRED 4892173 ATP5G1P4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 4 3 3 q26.31 170945494 170946038 - 172546423 172547005 - 100287755 ABBA01058644;AC108667;AMYH01013654;NG_028935 pseudo 39507 INFERRED 4892172 ATP5G1P8 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 8 10 q22.3 78596104 78596715 + 100288222 ABBA01020241;AC011439;AC013738;AMYH01002846;NG_028756 2161656;2172002;2183182 A003B45;NIB1917;RH11276 pseudo 39511 INFERRED 4892148 ATP5G1P5 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 5 13 13 13 q33.3 88160014 88160536 + 106113786 106114301 + 107315740 107316298 + 390424 ABBA01027046;AL442127;AMYH01005358;CH471085;NG_023226 EAX09090 pseudo 39508 INFERRED 4892192 ATP5G1P3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 3 3 3 3 q22.3 137034539 137035241 - 140090784 140091489 - 138608097 138608799 - 646619 ABBA01059073;AC092947;AMYH01013535;NG_022220 1335298;1337904;1731677 D3S1535;D3S1665;D8S1019 pseudo 39506 INFERRED 5133592 ATP5G2P3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 3 2 q33.1 198127781 198128402 + 100507097 ABBA01062468;AC074092;AMYH01011388;NG_029212 pseudo 42187 INFERRED 4892174 ATP5G1P7 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 7 10 10 10 q22.1 64469136 64473750 - 70862731 70867348 - 71192620 71193169 - 100130962 ABBA01019607;AC016821;AMYH01002807;NG_028965 pseudo 39510 INFERRED 1344847 ATP5B ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008] 12 12 q13.13 55318226 55326119 - 57031959 57039852 - 1580863;6480464;6907045 12110673;17643490;10077593;11410595;17510399;2870059;18063578;2900241;2687158;18284036;16996794;16927672;16890199;16751257;16236267;16230521;15952740;15635413;15489334;15324660;15242332;14749816;12511957;12477932;12206899;11790298;9834036;16009940;20473970;21628590;9461222;8065448;7798271;4517936;2896550;1602151;16169070;14499622;20012595;20663914;18029348;19567816;19878569;20028336;20067530;8006588;20705594;12601813;21193741;16196087;20171186;19343720;19596686;21081666;21900206;21987572;22022619;22079093;21481781;20462248;23077236;23106098;23181366;23182705;21182205;22863883;22939629;20186120;20618440;17620599;21139048;21890473;21906983;21110914;19847302;23395605;21145461;21319273;22753871;19738201;19805454;21080425;21382349;21963094;22304920;22433606;22623428;22751105;23000965;23246001;23463654;22190034;22268729;22505724 506 F8VPV9;F8VQY0;F8W079;F8W0P7;H0YH81;H0YI37;P06576 ABBA01008432;AC090681;AK291085;AMYH01004506;BC016512;BI561028;CH471054;DQ403107;HC091114;M19483;M27132;NM_001686;X05606 AAA51808;AAA51809;AAH16512;ABD77240;ABM82511;ABM85705;BAF83774;CAA29095;CBI68016;EAW96952;NP_001677;P06576 Hs.406510 1661902;1736226;2122595;5021151;5094896 ATP5B;D12S1168E;M27132;RH18073;RH78335 ATPMB;ATPSB;MGC5231 ATP synthase subunit beta, mitochondrial;OTTHUMP00000243448;OTTHUMP00000243449;OTTHUMP00000243452;mitochondrial ATP synthase beta subunit;mitochondrial ATP synthetase, beta subunit APPROVED protein-coding ENSG00000110955 830 00044 102910 REVIEWED 1344994 ATP5G2P2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 2 14 14 14 q21.3 29700544 29701166 + 48910340 48911102 + 49840630 49841252 + 22610502 319119 ABBA01018106;AL512361;AMYH01005711;NG_002500 ATP5GP2 APPROVED pseudo 19672 INFERRED 1354351 ATP5G2P1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 1 1 1 1 q32.2 182671846 182672479 - 207507520 207508347 - 209440995 209441628 - 8328972 520 ABBA01048220;AC092810;AMYH01001696;NG_005472;X69909 ATP5GP1 APPROVED pseudo 844 INFERRED 5133627 ATP5G2P4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 4 X X X p11.4 46100079 46100707 - 41842702 41843528 - 41957856 41958484 - 654480 ABBA01046588;ABBA01046589;AMYH01022236;NG_005473;Z92545 1694112;1702078;2121309;2136375;2157201;5108958 AL035126;DXS1379;DXS1700;DXS7055;DXS7512;L77298 pseudo 42188 INFERRED 2303321 ATP5HP1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 1 15 15 15 q15.2 20330865 20331459 - 41347235 41348009 - 43560029 43560623 - 390581 ABBA01038351;AC009852;AMYH01006588;NG_004675;NG_016124 1678863 RH17542 HsT18164 APPROVED pseudo 31021 INFERRED 736319 ATP5F1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008] 1 1 p13.2 111793266 111806063 + 111991743 112004540 + 1300048;1580863;6480464;6907045 7821789;22779921;12110673;17353931;1831354;2868890;16710414;15489334;14749816;12477932;11827452;9834036;9461222;8125298;7706317;2883974;20038517;21319273;19016746;19064571;19650768;19834535;4517936;20877624;22939629;16196087;20186120;18781797;21139048;21906983;22190034 515 P24539;Q08ET0;Q5QNZ2 ABBA01068397;AI754631;AK223018;AK291077;AK308266;AK313541;AL390195;AMYH01000946;AW385236;AW778751;AY871272;BC005366;BC005960;BC016350;BF237506;CH471122;D28383;NM_001688;X60221 AAH05366;AAH05960;AAH16350;AAX11428;BAA05749;BAD96738;BAF83766;BAG36318;CAA42782;EAW56495;EAW56496;NP_001679;P24539 Hs.514870 1337813;1677606;1692086;2186101;5016709;5022651;5037552 AL033683;D11S2921;D18S1034;D1S2789;D8S2279;RH65130;RH70850 MGC24431;PIG47 ATP synthase B chain, mitochondrial;ATP synthase subunit b, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1;ATPase subunit b;H+-ATP synthase subunit b;OTTHUMP00000013469;OTTHUMP00000013470;atp synthase, h+ transporting, mitochondrial f0 complex, subunit b, isoform 1;cell proliferation-inducing protein 47 APPROVED protein-coding 840 04467 603270 REVIEWED 1348420 ATP5G1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 43424432 43427516 + 44325147 44328232 + 46970148 46973233 + 1580863;6480464;6907045 8328972;11230166;11076863;9834036;9461222;8889548;8485160;7698763;2883974;12477932;16381901;15906478;15489336;15489334;14749816;14702039;20877624;11256614;19889836;4517936;21378990;21139048 516 D6R9H7;E7EPU7;E7EQ97;P05496;Q6FIH7 ABBA01041181;AC091133;AK095669;AK311848;AL080089;AMYH01008457;BC004963;BF573360;BG611396;BT007230;BU596803;CF129854;CH471109;CR533449;D13118;M16453;NM_001002027;NM_005175;X69907 AAA51806;AAH04963;AAP35894;BAA02420;BAG34790;CAA49532;CAB45704;CAG38480;CAL38315;EAW94705;EAW94706;NP_001002027;NP_005166;P05496 Hs.80986 1660693;2137703 D17S2035;WI-18744 ATP5A;ATP5G ATP synthase lipid-binding protein, mitochondrial;ATP synthase proteolipid P1;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9);ATPase protein 9;ATPase subunit 9;ATPase subunit C;OTTHUMP00000218389;OTTHUMP00000218391;OTTHUMP00000218448;OTTHUMP00000218449;OTTHUMP00000218450;mitochondrial ATP synthase, subunit 9, isoform 1;mitochondrial ATP synthase, subunit C, isoform 1 APPROVED protein-coding ENSG00000159199 841 04428 603192 REVIEWED 7240984 ATP5J2LP ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2-like pseudogene 101241877 AP000694;NG_033132 pseudo ENSG00000224421 849 INFERRED 5013862 ATP5J2-PTCD1 ATP5J2-PTCD1 readthrough This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 7 q 99014362 99063824 - 12853948;20967262;9847074 100526740 B4DJ38;G3V325 AACC02000084;ABBA01013261;ABBA01013262;ABBA01013263;AC004922;AC073063;AC090113;AK295912;AMYH01017721;CH236956;NM_001198879 BAG58700;NP_001185808 Hs.632313 1693582;5015619;5015961;5022588;5022651;5037552 D11S2921;D11S3114;D15S1477;D5S1597E;D8S2279;SHGC-58489 FLJ56092 ATP5J2-PTCD1 fusion protein;ATP5J2-PTCD1 read-through transcript;OTTHUMP00000218971 APPROVED protein-coding ENSG00000248919 38844 VALIDATED 736098 ATP5G2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene has multiple pseudogenes. [provided by RefSeq, Jun 2010] 12 12 12 q13.13 53709025 53720613 - 52345211 52356779 - 54058944 54070512 - 1300048;1580863;6480464;6907045 7821789;8328972;16303743;15489334;14749816;12477932;11329013;9834036;9461222;8485160;7706317;7698763;2883974;19064571;20189936;20877624;22645275 517 F8VXQ8;F8W041;Q06055 ABBA01008355;AC073594;AK075351;AK130971;AK311357;AMYH01004483;AV737582;BC013839;BC020826;BF337574;BG217012;BQ682406;BX348847;CH471054;D13119;D28402;H83751;M16439;NM_001002031;NM_005176;X69908 AAA51804;AAH20826;ABM82293;ABM85473;BAA02421;BAA05768;BAG52118;CAA49533;EAW96725;EAW96726;NP_001002031;NP_005167;Q06055 Hs.524464 1747705;2127399;2147163;5015619;5015861;5015879;5020946;5021228;5022322;5037552;5118576;7185938 A006X11;D10S16;D11S2560;D11S3114;D11S3430;D12S2096;D8S2279;G64259;GDB:312794;GDB:314949;L17971 ATP5A ATP synthase c subunit;ATP synthase lipid-binding protein, mitochondrial;ATP synthase proteolipid P2;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9);ATPase protein 9;ATPase subunit C;OTTHUMP00000164641;OTTHUMP00000164642;OTTHUMP00000242922;mitochondrial ATP synthase, subunit C (subunit 9), isoform 2 APPROVED protein-coding ENSG00000135390 842 04429 603193 REVIEWED 734314 ATP5G3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010] 2 2 2 q31.1 169654533 169660034 - 175749232 175754736 - 176040986 176046490 - 1300048;1580863;6480464;6907045 14667819;7698763;15815621;15489334;14749816;12477932;9834036;9461222;8328972;2883974;20877624;22505724 518 P48201;Q6LEU9 ABBA01062204;AC096649;AK125917;AK311999;AMYH01011286;AW025164;BC106881;BF210704;BI756002;BI765737;BQ054164;CA424417;CH471058;CR407601;NM_001002258;NM_001190329;NM_001689;U09813 AAA78807;AAI06882;AAX88970;ACE87781;ACT64448;BAG34937;CAG28411;EAX11105;EAX11106;EAX11107;EAX11108;NP_001002258;NP_001177258;NP_001680;P48201 Hs.429 1658328;1689761;1734992;1856922;2120992;5022651 D11S2921;D2S1729E;RH16634;RH46434;RH98914;SHGC-56806 MGC125738;P3 ATP synthase lipid-binding protein, mitochondrial;ATP synthase proteolipid P3;ATP synthase subunit 9;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9);ATP synthase, mitochondrial, C subunit-3;ATPase protein 9;ATPase subunit C;OTTHUMP00000163263;OTTHUMP00000205361;OTTHUMP00000205362;atp synthase, h+ transporting, mitochondrial f0 complex, subunit c (subunit 9) isoform 3 APPROVED protein-coding 843 04112 602736 REVIEWED 1343122 ATP5J2P3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 3 9 q21.2 79655332 79655586 + 445573 ABBA01033919;AL353637;AMYH01021428;NG_032710 bA159H20.5 APPROVED pseudo 21286 INFERRED 1642107 ATP5J2P4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 4 17 17 17 q 56957472 56957880 + 59918014 59918603 + 62487635 62488043 + 654485 ABBA01035297;AC009994;AC138744;AC234063;AMYH01008560;NG_005476;NG_013029 APPROVED pseudo 32451 INFERRED 1642108 ATP5J2P5 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 5 12 12 12 p13.3 7995235 7995652 - 6249354 6249939 - 6379191 6379608 - 654484 ABBA01017634;AC006057;AMYH01004202;NG_005477 APPROVED pseudo 33611 INFERRED 1346132 ATP5J2P2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 2 6 6 6 q21 109974585 109975005 + 109335265 109335892 + 109228680 109229099 + 387107 ABBA01026140;AL445189;AMYH01016581;NG_004672 1670584;1768762 GDB:4584994;WI-18640 bA249L21.4 APPROVED pseudo 21540 INFERRED 1642106 ATP5J2P6 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 6 15 15 15 q22 43596828 43597253 - 64494092 64494714 - 66707138 66707563 - 654486 ABBA01038822;AC011276;AMYH01006722;NG_005475;NG_008305 APPROVED pseudo 33612 VALIDATED 1354458 ATP5J2LP ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2-like pseudogene DISCONTINUED: This record has been withdrawn by the NCBI staff because it was annotated on the wrong strand. This pseudogene locus is now represented by GeneID:101241877. 21 21 21 q22.13 22959439 22959874 + 36682922 36683357 + 37761052 37761487 + 10830953 54100 AP000694;AP001725 APPROVED pseudo WITHDRAWN 2902896 ATP5JP1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 pseudogene 1 Y Y Y p11.2 2446539 2446873 - 6829074 6829608 + 6769175 6769509 + 12815422;9847074 359997 ABBA01034865;AC011297;NG_002918 2125637 DYS265 pseudo 23933 INFERRED 735304 ATP5J ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex, required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. A pseudogene exists on chromosome Yp11.[provided by RefSeq, Jun 2010] 21 21 q21.1 26018662 26029836 - 27096791 27107965 - 1300048;1580863;6480464;6484113;6907045 12110673;1830479;1825642;18243211;17456993;16532470;16230521;15785006;15709156;15489334;14749816;14633154;12745923;12628343;12477932;12471886;11230166;10830953;9834036;9732751;9461222;7698763;1286669;19106112;4517936;19064571;18029348;19759913;20877624;20811295;22939629;20953793;21900206;21890473;22038518;22190034 522 A8MUH2;P18859;Q6IB54;Q6NZ59 ABBA01057211;AI085837;AK311899;AL110183;AMYH01012174;AP000226;AY544129;BC001178;BC066310;BG938438;BI093033;BQ268216;BT007244;BU174560;CH471079;CR456950;M37104;M73031;NM_001003696;NM_001003697;NM_001003701;NM_001003703;NM_001685 AAA51807;AAA58630;AAH01178;AAH66310;AAP35908;AAT11160;BAG34840;CAB53667;CAG33231;EAX09970;EAX09971;EAX09972;EAX09973;EAX09974;EAX09975;NP_001003696;NP_001003697;NP_001003701;NP_001003703;NP_001676;P18859 Hs.246310 1678055 RH38901 ATP5;ATP5A;ATPM;CF6;F6 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6;ATP synthase-coupling factor 6, mitochondrial;ATPase subunit F6;OTTHUMP00000096106;OTTHUMP00000096107;OTTHUMP00000096108;OTTHUMP00000096110;OTTHUMP00000096111;OTTHUMP00000096112;coupling factor 6;mitochondrial ATP synthase, coupling factor 6;mitochondrial ATP synthase, subunit F6;mitochondrial ATPase coupling factor 6;proliferation-inducing protein 36 APPROVED protein-coding ENSG00000154723 847 04399 603152 REVIEWED 1350783 ATP5I ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] 4 4 4 p16.3 606912 634112 - 656225 658122 - 666225 668127 - 1580863;6480464;6907045 12110673;18060860;16682002;15489334;14749816;12745923;12628343;12477932;12471886;11939412;10409428;9834036;9461222;8702853;18029348;20877624;16344560;4517936;22939629;19167051;21139048 521 P56385;Q9Y6W4 AB028624;ABBA01019337;AC107464;AK000656;AMYH01013838;BC003679;BC017215;BC105610;BF215596;BG940181;BG943252;BT006922;CH471131;D50371;DA119852;NM_007100;NR_033743 AAH03679;AAI05611;AAP35568;AAP36676;BAA23322;BAA78778;EAW82660;NP_009031;P56385 Hs.85539 1341961;1646206;1849572;5017192;5128289 D4S2936;D4S913;G34358;RH48833;SHGC-152391 ATP5K;MGC12532 ATP synthase e chain, mitochondrial;ATP synthase subunit e, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E;ATPase subunit e;F1F0-ATP synthase, murine e subunit;OTTHUMP00000109533 APPROVED protein-coding ENSG00000169020 846 03308 601519 REVIEWED 1344028 ATP5LP3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 3 4 4 p15.2 24268409 24269118 - 24659285 24660044 - 53409 ABBA01032684;AC114777;AF261723;AMYH01014065;NG_005043 1697932 RH102495 ATP5KP3;ATPE5KP3 APPROVED pseudo 13216 INFERRED 1350659 ATP5LP1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 1 11 11 11 q13.1 60927942 60928394 - 63358640 63359092 - 63602064 63602516 - 53411 ABBA01003271;AF261721;AMYH01003697;AP006289;NG_004834;NG_029771 ATP5KP1;ATPE5KP1 APPROVED pseudo 13214 INFERRED 1353372 ATP5LP2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 2 6 6 6 q22.31 123925257 123925667 - 123222447 123222857 - 123180748 123181158 - 53410 ABBA01025980;AF261722;AL732431;AMYH01016637;NG_005040 ATP5KP2 APPROVED pseudo 13215 INFERRED 1351705 ATP5H ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010] 17 17 17 q25 69628209 69636011 - 70546550 70554669 - 73034955 73043074 - 1580863;6480464;6907045 12110673;19110265;15489334;14749816;14702039;12745923;12628343;12477932;12471886;11042152;9834036;9461222;7509337;16169070;19016746;4517936;20877624;21832049;22939629;20186120;21139048;21890473;21906983;22190034 10476 A0PJH2;F5H608;O75947 AA608885;ABBA01028819;AC087651;AF061735;AF070650;AF086159;AF087135;AK095671;AK312230;AMYH01008629;BC029392;BC032245;BC038092;CH471099;NM_001003785;NM_006356 AAC36338;AAD20956;AAG43146;AAH29392;AAH32245;AAH38092;BAG35163;EAW89228;EAW89229;NP_001003785;NP_006347;O75947 Hs.514465 1678863;5015619;5020946;5022604;5037552 D11S3114;D12S1156E;D8S2279;L17971;RH17542 ATP5JD;ATPQ ATP synthase D chain, mitochondrial;ATP synthase subunit d, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d;ATP synthase, H+ transporting, mitochondrial F1F0, subunit d;ATPase subunit d;My032 protein APPROVED protein-coding ENSG00000167863 845 16519 REVIEWED 3254930 ATP5LP5 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 5 3 3 q25.2 150936911 150963022 - 152518223 152544334 - 22610502 100287091 ABBA01058888;ABBA01058889;AC013251;AMYH01013587;NG_022986 pseudo 38167 INFERRED 3051036 ATP5LP4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 4 4 4 4 q31.23 146945332 146945638 - 149844128 149844434 - 149624678 149624984 - 22493691 100130396 ABBA01070067;AC108935;AMYH01014608;NG_022979 pseudo 38165 INFERRED 3051009 ATP5LP6 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 6 17 17 70792526 70792796 - 74198607 74198877 - 100462865 ABBA01028754;AC015801;AMYH01008639;NG_022453 pseudo 38168 INFERRED 3051010 ATP5LP8 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 8 11 11 28312312 28312614 - 28166450 28166752 - 100462862 ABBA01060959;AC023206;AMYH01003457;NG_021779 pseudo 38170 INFERRED 3028767 ATP5LP7 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 7 17 17 q21.2 37455320 37455629 + 40799856 40800165 + 100287964 AC067852;NG_023016 pseudo 38169 INFERRED 1345847 ATP5J2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010] 7 7 7 q22.1 93789985 93798009 - 98893720 98901744 - 99055784 99063824 - 1298632;1580863;6480464;6907045 9653160 12110673;11959398;16169070;15489334;14749816;14702039;12745923;12690205;12628343;12477932;12471886;11042152;9834036;9461222;8125298;20877624;18505769;18596870;15146197;16344560;19064571;4517936;16712791;22939629;17314511;17342744;18781797;21139048 9551 C9JU26;E5RKA0;F5H4H2;P56134 AACC02000084;ABBA01013261;ABBA01013262;AC073063;AF047436;AF088918;AK094388;AK123419;AK223348;AMYH01017721;AY046911;BC003678;BE139254;BU587946;CB110074;CB155273;CD173604;CD176299;CH236956;CH471091;CN274665;CR456891;CR542155;CS072281;DA064847;DB114195;EL952520;NM_001003713;NM_001003714;NM_001039178;NM_004889 AAC34895;AAC39887;AAH03678;AAL06647;BAD97068;CAG33172;CAG46952;CAI93419;EAL23877;EAW76661;NP_001003713;NP_001003714;NP_001034267;NP_004880;P56134 Hs.521056;Hs.656515 1670584;1768762;5124605 GDB:4584994;RH91344;WI-18640 ATP5JL ATP synthase f chain, mitochondrial;ATP synthase subunit f, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2;F1F0-type ATPase subunit f;F1Fo-ATP synthase complex Fo membrane domain f subunit;F1Fo-ATPase synthase f subunit;OTTHUMP00000206242;OTTHUMP00000206270;OTTHUMP00000206317;OTTHUMP00000214468;OTTHUMP00000214469;OTTHUMP00000225439 APPROVED protein-coding ENSG00000241468 848 16520 REVIEWED 1344612 ATP5L2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2 22 22 22 q13.2 26946291 26947085 - 41365753 41366551 - 43035809 43036607 - 1580863;6480464 15489334;12477932;10361692 267020 Q7Z4Y8 ABBA01017932;AF092923;AMYH01012821;BC093719;BC093721;NG_012194;NM_001165877 AAP97217;NP_001159349;Q7Z4Y8 Hs.664737 2220506 UniSTS:483707 ATP5K2;dJ222E13.5 ATP synthase subunit g 2, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 pseudogene;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2-like;ATP synthase, H+ transporting, mitochondrial F1F0, subunit g;ATPase subunit g 2;OTTHUMP00000220201;atp synthase, h+ transporting, mitochondrial f0 complex, subunit g, isoform 2 APPROVED protein-coding ENSG00000249222 13213 VALIDATED 1343474 ATP5S ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 14 14 14 q21.3 30646177 30660090 + 49848797 49862418 + 50779047 50792960 + 1580863;6480464 6143319;16806233;14749816;12745923;12628343;12477932;12471886;11744738;9834036;9461222;9110174;8619474;16344560;20877624 27109 G3V446;Q8WXQ4;Q99766 ABBA01018131;ABBA01018132;AF052186;AF390029;AK290008;AL359397;AMYH01005723;AY052377;BC011549;BC087851;BG699167;BI755956;BU189283;CD517203;CH471078;DA033027;NM_001003803;NM_001003805;NM_015684;NR_033761;U79253 AAB50202;AAH11549;AAL13058;AAL58839;BAF82697;EAW65718;EAW65719;EAW65720;EAW65721;EAW65722;EAW65723;NP_001003803;NP_001003805;NP_056499;Q99766 Hs.438489 1676696;1677959;1736394;2110271;2159299;5093390 ATP5S_9524;D14S654E;G32690;RH40006;RH71262;RH99086 ATPW;FB;HSU79253 ATP synthase coupling factor B, mitochondrial;ATP synthase coupling factor B-like 1;ATP synthase subunit s, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B);ATP synthase-coupling factor B;OTTHUMP00000244611;OTTHUMP00000244612;OTTHUMP00000244614;mitochondrial ATP synthase regulatory component factor B APPROVED protein-coding ENSG00000125375 18799 12503 REVIEWED 1605674 ATP5SL ATP5S-like 19 19 19 q13.2 38737074 38745696 - 46629064 46637650 - 41937223 41945843 - 6480464 14702039;12477932;16344560;20877624;21682944;20881960;23065704 55101 B4DFT4;K7EIV4;K7ESN5;M0QX81;M0QZC4;M0QZP7;M0R078;Q9NW81 ABBA01040809;AC011526;AK001103;AK055565;AK123631;AK293132;AK294249;AK297698;AK298197;AK301940;AK316313;AMYH01009820;BC013323;BQ072604;CH471126;DA075924;DA703197;NM_001167867;NM_001167868;NM_001167869;NM_001167870;NM_001167871;NM_018035;NR_030765 AAH13323;ADZ15772;BAA91503;BAG56681;BAG57545;BAG60056;BAG60467;BAG63360;BAH14684;EAW57042;EAW57043;EAW57044;EAW57045;NP_001161339;NP_001161340;NP_001161341;NP_001161342;NP_001161343;NP_060505;Q9NW81 Hs.351099 1854126;2136320;2142506;2142508;2156652;5022651 A005U20;D11S2921;G20507;IB1022;RH35849;SHGC-24398 FLJ10241;FLJ31003;FLJ60315 ATP synthase subunit s-like protein protein-coding ENSG00000105341 25496 07655 VALIDATED 1352647 ATP5L ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] 11 11 11 q23.3 115429967 115438425 + 117777314 117785772 + 118272104 118280562 + 1580863;6480464;6907045 12110673;17353931;16381901;15489336;15489334;14749816;12745923;12628343;12477932;12471886;11230166;11076863;11042152;9834036;9461222;21319273;11256614;17137291;4517936;20819778;20877624;22939629;16196087;20186120;21139048;21890473;21906983;20876399 10632 E9PN17;O75964 AA258888;ABBA01039711;AF070655;AF087846;AF092124;AI337729;AK289568;AL050277;AMYH01004068;AP001267;BC015128;BC070165;BU953217;CH471065;CR533494;CR542211;NM_006476;NR_033759 AAC61597;AAD20961;AAH15128;AAH70165;AAP97159;BAF82257;CAB43378;CAG38525;CAG47007;CAL37942;CAL38390;EAW67376;NP_006467;O75964 Hs.486360 1652607;1671185;2141064 A006R09;D20S1118;RH66640 ATP5JG ATP synthase g chain, mitochondrial;ATP synthase subunit g, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G;ATP synthase, H+ transporting, mitochondrial F1F0, subunit g;ATPase subunit G;F1F0-type ATP synthase subunit g;F1Fo-ATP synthase complex Fo membrane domain g subunit;OTTHUMP00000232646 APPROVED protein-coding ENSG00000167283 14247 09815 REVIEWED 1603596 ATP6AP1L ATPase, H+ transporting, lysosomal accessory protein 1-like 5 5 5 q14.2 77506144 77519126 + 81636922 81649903 + 81601166 81614147 + 6480464 14702039;12477932 92270 Q52LC2 ABBA01062071;AC010598;AK022625;AK094973;AMYH01015451;BC093982;BC112191;CH471084;NM_001017971 AAH93982;AAI12192;EAW95889;EAW95890;NP_001017971;Q52LC2 Hs.729805 1849644;5037552 D8S2279;G09812 MGC138396 V-type proton ATPase subunit S1-like protein;vacuolar proton pump subunit S1-like protein protein-coding ENSG00000205464 28091 18710 PROVISIONAL 1348097 ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008] 21 21 q22.11 34197627 34210028 - 35275757 35288158 - 1580863;6480464;6907045 10830953;8125298;12110673;15850986;7490082;17851741;15489334;14702039;12665801;12477932;21319273;19064571;19274082;19615732;4517936;17567994;20800603;20877624;17571346;22939629;22190034;16196087;20972266;21139048;21890473;21906983;19738201;22304920;22623428;23000965;23222517;23246001;23046812 539 H7C068;H7C086;H7C239;H7C2P9;P48047 ABBA01057362;AF088071;AK093795;AK124187;AK222608;AK222962;AK311796;AMYH01012213;AP000313;AV734214;AW518473;BC021233;BC022865;BT019836;CD174837;CH471079;CR456822;NM_001697;X83218 AAH21233;AAH22865;AAV38639;ADZ16081;BAD96328;BAD96682;BAG34739;CAA58219;CAG33103;EAX09802;EAX09803;EAX09804;NP_001688;P48047 Hs.409140 1646399;1677438;1801022;1801862;1813084;1814678;1820598;1820712;1821046;1824404;1824634;1826422;1832294;1834780;1835432;1844312;1845576;1858612;2032308;2032310;2032312;2032314;2032316;2032318;2032320;2032322;2032324;2032326;2032328;2032330;2032332;2032334;2032336;2032338;2032340;2032342;2032344;2032346;2032348;2032350;2032352;2032354;2032356;2032358;2032360;2032362;2032364;2032366;2032368;2032370;2032372;2032374;2032376;2032378;2032380;2032382;2032384;2032386;2032388;2032390;2032392;2032394;2032396;2032398;2032400;2032402;2032404;2032406;2032408;2032410;2032412;2032414;2032416;2032418;2032420;2032422;2032424;2032426;2032428;2032430;2032432;2032434;2032436;2032438;2101860;2101862;2101864;2101866;2101868;2101870;2101872;2101874;2101876;2101878;2101880;2101882;2168124;5096338 D21S1977;D21S1980;ECD01377;ECD01812;ECD07561;ECD08369;ECD11374;ECD11431;ECD11600;ECD13300;ECD13415;ECD14325;ECD17286;ECD18538;ECD18871;ECD23370;ECD24006;ECD24507;REN87161;REN87162;REN87163;REN87164;REN87165;REN87166;REN87167;REN87168;REN87169;REN87170;REN87171;REN87172;REN87173;REN87174;REN87175;REN87176;REN87177;REN87178;REN87179;REN87180;REN87181;REN87182;REN87183;REN87184;REN87185;REN87186;REN87187;REN87188;REN87189;REN87190;REN87191;REN87192;REN87193;REN87194;REN87195;REN87196;REN87197;REN87198;REN87199;REN87200;REN87201;REN87202;REN87203;REN87204;REN87205;REN87206;REN87207;REN87208;REN87209;REN87210;REN87211;REN87212;REN87213;REN87214;REN87215;REN87216;REN87217;REN87218;REN87219;REN87220;REN87221;REN87222;REN87223;REN87224;REN87225;REN87226;RH93444;STS-N98935;stSG607539;stSG607540;stSG607541;stSG607542;stSG607543;stSG607544;stSG607545;stSG607546;stSG607547;stSG607548;stSG607549;stSG607550 ATPO;OSCP ATP synthase subunit O, mitochondrial;OTTHUMP00000067745;human ATP synthase OSCP subunit;oligomycin sensitivity conferral protein;oligomycin sensitivity conferring protein APPROVED protein-coding ENSG00000241837 850 02899 600828 REVIEWED 733467 ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1 This gene encodes a component of a multisubunit enzyme (1 mDa MW) that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene is approximately 45 kD and may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. [provided by RefSeq, Jul 2008] X X q28 153310172 153318056 + 153656978 153664862 + 1300048;1580863;6480464;6907045 8248200;8733135;16381901;16344560;16303743;15489336;15489334;14702039;12477932;11983866;11923311;11076863;10440860;10340843;10336633;10224039;10221984;9442887;9210392;8281148;8034313;16169070;19246570;19913121;20628086;22939629;22268729;22505724;16196087;21139048;21906983;21987572;23284715;21963094;21988832;22810585 537 A6NLC6;A6QRJ1;F2Z3L8;H7C0T7;H7C2Y8;Q15904;Q9H0C7 ABBA01045278;ABBA01045279;ABBA01045280;ABBA01045281;ABBA01045282;ABBA01045283;AC244090;AK026519;AK075284;AK090462;AK091083;AK130616;AK289452;AK301603;AL136851;AMYH01023315;BC000724;BC109247;BX461330;BX936347;BX936385;CH471172;D16469;DA921677;NM_001183;X87195 AAH00724;ABM83065;ABM86259;BAA03938;BAC03443;BAC11520;BAF82141;BAG52282;BAG63090;CAB66785;CAL37445;CAL38190;CAL38747;EAW72712;EAW72713;EAW72714;EAW72715;NP_001174;Q15904 Hs.633817;Hs.6551 1657750;1665745;1667649;1702278;1703114;1748063;1748065;1787972;1787974;1787976;1787978;1799974;1800456;1800500;1800740;1801122;1802538;1803456;1803870;1806942;1807752;1807754;1808018;1810544;1811570;1812090;1812162;1812364;1812436;1812628;1813168;1813966;1816458;1817284;1817662;1817984;1825204;1831038;1833682;1839912;1844382;1844522;1844912;1845378;2037022;2037024;2037026;2037028;2037030;2037032;2037034;2037036;2037038;2037040;2037042;2037044;2037046;2037048;2037050;2037052;2037054;2037056;2037058;2037060;2037062;2037064;2037066;2037068;2037070;2037072;2037074;2037076;2037078;2037080;2037082;2037084;2037086;2037088;2037090;2037092;2037094;2037096;2037098;2037100;2037102;2037104;2037106;2037118;2037120;2037122;2037126;2037128;2037130;2037132;2037134;2037136;2037140;2037142;2037144;2037146;2037148;2037150;2037152;2037154;2037156;2037160;2037162;2037164;2037166;2037168;2037170;2037180;2037182;2037184;2037186;2037190;2037192;2037194;2037196;2037198;2037200;2037202;2037204;2037206;2037208;2037212;2037214;2037218;2037222;2037234;2037236;2037238;2037240;2037242;2037244;2037246;2037248;2037250;2037252;2037254;2037256;2037258;2037260;2037262;2037264;2037276;2037278;2037280;2037282;2037284;2037286;2037288;2037290;2037292;2037294;2037296;2037298;2037300;2037302;2037304;2037306;2037308;2037310;2037312;2037314;2037318;2037320;2037322;2037324;2037326;2037328;2037330;2037332;2102536;2102538;2102540;2102542;2102548;2102550;2102552;2102554;2102556;2102562;2102564;2102566;2107147;2148947;2176605;2178179;2190599;2219020;5021048 ATP6AP1__4395;DXS7072;DXS7587;DXS9771;ECD00841;ECD01088;ECD01110;ECD01231;ECD01433;ECD02155;ECD02625;ECD02847;ECD04436;ECD04849;ECD04850;ECD04987;ECD06265;ECD06788;ECD07050;ECD07086;ECD07189;ECD07225;ECD07324;ECD07603;ECD08010;ECD09271;ECD09692;ECD09883;ECD10047;ECD13703;ECD16655;ECD17986;ECD21139;ECD23405;ECD23475;ECD23672;ECD23906;G65808;G65809;G67208;G67209;G67210;G67211;GDI1;GDI1__6799;REN89522;REN89523;REN89524;REN89525;REN89526;REN89527;REN89528;REN89529;REN89530;REN89531;REN89532;REN89533;REN89534;REN89535;REN89536;REN89537;REN89538;REN89539;REN89540;REN89541;REN89542;REN89543;REN89544;REN89545;REN89546;REN89547;REN89548;REN89549;REN89550;REN89551;REN89552;REN89553;REN89554;REN89555;REN89556;REN89557;REN89558;REN89559;REN89560;REN89561;REN89562;REN89563;REN89564;REN89570;REN89571;REN89572;REN89574;REN89575;REN89576;REN89577;REN89578;REN89579;REN89581;REN89582;REN89583;REN89584;REN89585;REN89586;REN89587;REN89588;REN89589;REN89591;REN89592;REN89593;REN89594;REN89595;REN89596;REN89601;REN89602;REN89603;REN89604;REN89606;REN89607;REN89608;REN89609;REN89610;REN89611;REN89612;REN89613;REN89614;REN89615;REN89617;REN89618;REN89620;REN89622;REN89628;REN89629;REN89630;REN89631;REN89632;REN89633;REN89634;REN89635;REN89636;REN89637;REN89638;REN89639;REN89640;REN89641;REN89642;REN89643;REN89649;REN89650;REN89651;REN89652;REN89653;REN89654;REN89655;REN89656;REN89657;REN89658;REN89659;REN89660;REN89661;REN89662;REN89663;REN89664;REN89665;REN89666;REN89667;REN89668;REN89670;REN89671;REN89672;REN89673;REN89674;REN89675;REN89676;REN89677;RH68908;RH77733;SGC34656;STS-M78866;WI-9327;sWXD2362;stSG604043;stSG604044;stSG604045;stSG604046;stSG604053;stSG604055;stSG604056;stSG604057;stSG604058;stSG604062;stSG604067;stSG604068 16A;ATP6IP1;ATP6S1;Ac45;CF2;MGC129781;VATPS1;XAP-3;XAP3 ATPase, H+ transporting, lysosomal interacting protein 1;H-ATPase subunit;OTTHUMP00000032115;OTTHUMP00000196463;V-ATPase Ac45 subunit;V-ATPase S1 accessory protein;V-ATPase subunit S1;V-type proton ATPase subunit S1;protein XAP-3;vacuolar proton pump subunit S1 APPROVED protein-coding ENSG00000071553 868 02184 300197 REVIEWED 1346001 ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008] X X p11.4 40325160 40350833 + 40440216 40465889 + 1580863;5132617;6480464;7240710 18376005 21420935;12045255;15746149;16374430;19513539;19131936;18698213;17494887;17082479;16807542;16401765;16303743;15489334;12477932;11782983;11590366;10931946;9556572;20385187;23277024;19580809;19615732;19641301;19733264;20093472;21103663;22930161;21316680;21228785;21270819;20702505;21346687;22025376;21997900;21139048;21890473;21906983;23045457;23111329;21963094;22810585;23000965;22721990 10159 B7Z1I9;B7Z413;B7Z9I3;H0Y750;H7C240;H7C3E1;Q9UG89 ABBA01046796;ABBA01046797;AC092473;AF109363;AF248966;AF291814;AF354120;AK075382;AK293510;AK296614;AK297007;AK297760;AK314633;AK315948;AL049929;AMYH01022224;AY038990;AY429341;BC010395;BC084541;CH471141;NG_008874;NM_005765;Y17975 AAG44564;AAH10395;AAH84541;AAK83467;AAL11062;AAM47531;AAQ13511;AAR06910;BAC11582;BAH11525;BAH12399;BAH12473;BAH12660;BAH14319;CAA76984;CAB43210;EAW59424;NP_005756;O75787 Hs.495960 1334674;1336817;1336934;1338420;1674470;2140079;2178297;7187613 DXS1069;DXS8085;DXS8090;DXS8102;RH169;SHGC-31934;WI-21507 APT6M8-9;ATP6IP2;ATP6M8-9;ELDF10;HT028;M8-9;MGC99577;MRXE;MSTP009;XMRE ATPase H(+)-transporting lysosomal-interacting protein 2;ATPase, H+ transporting, lysosomal (vacuolar proton pump) membrane sector associated protein M8-9;ATPase, H+ transporting, lysosomal interacting protein 2;ER-localized type I transmembrane adaptor;N14F;OTTHUMP00000025770;OTTHUMP00000025771;OTTHUMP00000025773;OTTHUMP00000025774;V-ATPase M8.9 subunit;embryonic liver differentiation factor 10;renin receptor;renin/prorenin receptor;vacuolar ATP synthase membrane sector-associated protein M8-9;vacuolar proton ATP synthase membrane sector associated protein M8-9 APPROVED protein-coding ENSG00000182220 18305 06454 300423;300556 REVIEWED 1347369 ATP6V0CP1 ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c pseudogene 1 17 17 17 p13.2 4775149 4775581 - 4706203 4706856 - 4759757 4760694 - 100132978 ABBA01054777;AC109333;AC233723;AMYH01008043;NG_009542;NG_028005 ATCD1 APPROVED pseudo 31323 VALIDATED 5131597 ATP6V0CP3 ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c pseudogene 3 6 6 6 p21.1 44247224 44248184 + 42802950 42803933 + 42695314 42695932 + 442211 ABBA01050724;AL049843;AMYH01016306;BQ447003;NR_037141 Hs.563394 1850979 RH66735 pseudo 40001 VALIDATED 1312856 ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008] 7 7 q34 138041579 138133481 - 138391039 138482941 - 1599383;1580863;6480464;6907045;7240710 10973252 17360703;18632794;12414817;12649290;15800125;14638902;19366680;16344560;14702039;14580332;12788495;12690205;12477932;11836511;10600682;10577919;10440860;10340843;10224039;10221984;9442887;9210392;14597263;22460948;21326311;20221774;14675051;19639346;20379614;17662945;2874839;21963094;22093743 50617 Q96N91;Q9HBG4 AACC02000025;ABBA01001173;ABBA01001174;ABBA01001175;ABBA01001176;ABBA01001177;ABBA01001178;ABBA01001179;AC018663;AC020983;AF245517;AF249874;AK055789;AK292945;AMYH01017970;AMYH01017971;AMYH01017972;AMYH01017973;BC109304;BC109305;CH236950;CH471070;DA857655;DB230144;HI574138;HI574140;HI574142;NG_008145;NM_020632;NM_130840;NM_130841 AAG11415;AAI09305;AAI09306;BAB71014;BAF85634;CBX47558;CBX47559;CBX47560;EAL24043;EAW83892;EAW83893;EAW83894;EAW83895;EAW83896;EAW83897;NP_065683;NP_570855;NP_570856;Q9HBG4 Hs.98967 1679756;1789474;1789540;2144771;2183540 D7S1636;D7S3183;D7S3193;GDB:1317754;RH92345 A4;ATP6N1B;ATP6N2;MGC130016;MGC130017;RDRTA2;RTA1C;RTADR;STV1;VPH1;VPP2 ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B;ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD);H(+)-transporting two-sector ATPase, noncatalytic accessory protein 1B;OTTHUMP00000211501;OTTHUMP00000211502;V-ATPase 116 kDa;V-type proton ATPase 116 kDa subunit a;V-type proton ATPase 116 kDa subunit a isoform 4;vacuolar proton pump 116 kDa accessory subunit;vacuolar proton pump, subunit 2;vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform APPROVED protein-coding ENSG00000105929 866 05576 602722;605239 REVIEWED 1605737 ATP6V0A1 ATPase, H+ transporting, lysosomal V0 subunit a1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q21 37864388 37928123 + 40610862 40674597 + 6480464;6907045 12649290;18505059;17081065;15489334;14597263;14580332;12788495;12643545;12477932;11836511;10440860;10340843;10224039;10221984;9442887;9210392;8125298;7774924;1704894;17662945;2874839;17360703;20038947;18029348;22708544;21674799;22939629;21139048;21890473;21906983;21558123 535 B7Z2A9;B7Z641;F5H1T6;F5H569;K7ELZ6;K7EM24;K7EN36;K7ENA1;K7EPG4;K7EQW2;K7ERA0;K7ERA6;Q53ET5;Q53X12;Q5CZH6;Q93050 ABBA01006422;ABBA01006423;AC067852;AC107993;AK223554;AK294512;AK294789;AK295682;AK299784;AK316305;AL096733;AL137683;AMYH01008394;BC032398;BX648978;CH471152;CR627443;L78933;NM_001130020;NM_001130021;NM_005177;U18920;Z71460 AAA69700;AAH32398;AAL77442;BAD97274;BAH11795;BAH11885;BAH12153;BAH13127;BAH14676;CAA96077;CAB70874;CAH10528;CAI56709;EAW60830;EAW60831;NP_001123492;NP_001123493;NP_005168;Q93050 Hs.463074 1688273;1769330;1795406;2136195 2194;ATP6V0A1_708;D17S1365E;RH92453 ATP6N1;ATP6N1A;DKFZp781J1951;Stv1;VPP1;Vph1;a1 ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD);ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD);H(+)-transporting two-sector ATPase, 116 kDa accessory protein A1;V-ATPase 116 kDa;V-type proton ATPase 116 kDa subunit a;V-type proton ATPase 116 kDa subunit a isoform 1;clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit;vacuolar adenosine triphosphatase subunit Ac116;vacuolar proton pump subunit 1;vacuolar proton pump, subunit 1;vacuolar proton translocating ATPase 116 kDa subunit A;vacuolar-type H(+)-ATPase 115 kDa subunit APPROVED protein-coding ENSG00000033627 865 01886 192130 REVIEWED 6480947 ATP6V0E1P1 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 1 5 132284185 132284407 + 100874502 ABBA01068792;AC010240;AMYH01015617;NG_032378 pseudo 41935 INFERRED 6480944 ATP6V0E1P2 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 2 3 41900845 41901084 - 100874503 ABBA01024779;AC104305;AMYH01013110;NG_032379 pseudo 41936 INFERRED 1317997 ATP6V0B ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is part of the transmembrane V0 domain and is the human counterpart of yeast VMA16. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p32.3 42724136 42727506 + 44213189 44216559 + 44440602 44443972 + 1580863;6480464;6907045 9653649;17576770;15489334;15249206;14597263;14580332;12890556;12788495;12477932;11836511;10440860;10340843;10224039;10221984;9442887;9210392;17662945;2874839 533 E9PKB6;E9PMR1;E9PNL3;E9PNU0;H0YCC5;Q99437 AB045777;ABBA01050936;AI439545;AL357079;AMYH01000563;BC000423;BC005876;BC042664;BC053601;BG475609;BG831921;BI770034;BT007151;CH471059;CR456972;D89052;L05089;NM_001039457;NM_004047 AAC15853;AAH00423;AAH05876;AAP35815;BAA13753;BAC02927;CAG33253;EAX07066;EAX07067;EAX07068;EAX07069;NP_001034546;NP_004038;Q99437 Hs.596514 1680619;1695000;1730267;2124550;7184711;7187617 D1S280E;G44713;HSCZOA042;RH67811 ATP6F;HATPL;VMA16 H(+)-transporting two-sector ATPase, subunit F;OTTHUMP00000010012;OTTHUMP00000231252;OTTHUMP00000231253;OTTHUMP00000231254;OTTHUMP00000231257;V-ATPase 21 kDa proteolipid subunit;V-ATPase subunit c'';V-type proton ATPase 21 kDa proteolipid subunit;vacuolar ATP synthase 21 kDa proteolipid subunit;vacuolar proton pump 21 kDa proteolipid subunit;vacuolar proton pump, 21 kDa subunit APPROVED protein-coding ENSG00000117410 861 04759 603717 REVIEWED 6480943 ATP6V0E1P4 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 4 1 48015868 48016422 + 100874504 ABBA01050816;AL356458;AMYH01000595;NG_032380 pseudo 41938 INFERRED 1320849 ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] 12 12 q24.31 122762818 122810394 + 124196865 124246302 + 1580863;6480464;6907045;7240710 16415858;2247090;19321599;18157129;17295899;17081983;16344560;16113235;15373763;15358640;15301855;14702039;14597263;14580332;12788495;12477932;11836511;19171192;19401719;20669186;20153292;17662945;2874839;21178005;18029348;21963094;23000965;21139048;21890473;21906983;22479202;19322201;20301755;22773132;22939629;16027165;22053931 23545 F5GX48;F5H5F3;F5H847;Q9Y487 ABBA01060393;ABBA01060394;AC117503;AF112972;AK056800;AK289391;AK298778;AMYH01004841;BC000826;BC022300;BC068531;BG106215;BG167832;BG759946;BI562012;BQ050095;BX328381;CB960860;CD654920;CH471054;DA737084;NG_012743;NM_012463;R51339 AAD04632;AAH22300;AAH68531;ADR82758;BAF82080;BAG60919;EAW98434;EAW98436;NP_036595;Q9Y487 Hs.25786 1665887;1691168;2106779;5022578 D1S1423;GC24S19;RH92322;WI-13960 A2;ARCL;ARCL2A;ATP6A2;ATP6N1D;J6B7;RTF;STV1;TJ6;TJ6M;TJ6S;VPH1;WSS A2V-ATPase;OTTHUMP00000239279;V-type proton ATPase 116 kDa subunit a isoform 2;lysosomal H(+)-transporting ATPase V0 subunit a2;regeneration and tolerance factor;v-ATPase 116 kDa;v-type proton ATPase 116 kDa subunit a;vacuolar proton translocating ATPase 116 kDa subunit a APPROVED protein-coding ENSG00000185344 18481 16521 219200;278250;611716 REVIEWED 5132555 ATP6V0E1P3 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 3 2 2 2 p22.3 33665810 33666054 + 33680613 33680857 + 33827050 33827852 + 100133262 ABBA01074909;AC017050;AMYH01010241;NG_029004 pseudo 41937 INFERRED 731892 ATP6V0C ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010] 16 16 p13.3 2503954 2510220 + 2563727 2570224 + 1300048;1580863;6480464;6907045 1709739;11543633;19058789;15489334;15466867;14597263;14580332;12788495;12477932;12438748;11836511;10440860;10340843;10224039;10221984;9442887;9210392;8741845;8250920;7636472;1532310;16169070;17662945;2874839;16415858;19299075;19875448;18298843;16751776;21087195;22829766;21433058;21988832;22991218 527 H3BMY0;H3BNI4;P27449 AB046575;ABBA01030251;AC093525;AMYH01007058;AW161158;BC004537;BC007389;BC007759;BC009290;BI548787;BT007155;CH471112;CR541930;CR541951;M62762;NM_001198569;NM_001694 AAA60039;AAH04537;AAH07389;AAH07759;AAH09290;AAP35819;ADZ15776;ADZ15795;BAC06442;CAG46728;CAG46749;EAW85501;NP_001185498;NP_001685;P27449 Hs.389107 1729612;1729614;1740165;1748611;1768279;1772891;1850979;2172544;2182296;5126656 A009J05;D16S283;D16S284;D16S3014;RH66407;RH66735;RH69157;SHGC-110273;SHGC-32888;SHGC-60646 ATP6C;ATP6L;ATPL;VATL;VPPC;Vma3 H(+)-transporting two-sector ATPase, 16 kDa subunit;OTTHUMP00000159089;V-ATPase 16 kDa proteolipid subunit;V-ATPase subunit c;V-type proton ATPase 16 kDa proteolipid subunit;vacuolar ATP synthase 16 kDa proteolipid subunit;vacuolar H+ ATPase proton channel subunit;vacuolar proton pump 16 kDa proteolipid subunit;vacuolar proton pump, 16 kDa subunit APPROVED protein-coding ENSG00000185883 855 00162 108745 REVIEWED 1315777 ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 8 8 8 83305507 83360717 + 87180255 87235570 + 87111139 87166454 + 1300048;1580863;6480464;6907045 18752060;14702039;14597263;14580332;12788495;12477932;12384298;11836511;17662945;2874839;15800125;19818731;22379998 245972 E5RHJ7;E5RIR3;Q8N8Y2 ABBA01037356;AC023194;AC084128;AK096027;AMYH01018855;AY079172;BC065207;CH471060;NM_152565 AAH65207;AAL87000;BAC04679;EAW91631;EAW91632;NP_689778;Q8N8Y2 Hs.436360 2110273;5017643 ATP6V0D2;ATP6V0D2__4396 ATP6D2;FLJ38708;VMA6 OTTHUMP00000224495;V-ATPase subunit d 2;V-type proton ATPase subunit d 2;atpase, h+ transporting, lysosomal 38kda, v0 subunit d isoform 2;vacuolar proton pump subunit d 2 protein-coding ENSG00000147614 18266 16522 VALIDATED 1350958 ATP6V0E1 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008] 5 5 5 q35.1 168443924 168495366 + 172343369 172394506 + 172410763 172461900 + 1580863;6480464;6907045 14597263;9556572;17350184;17576770;15906478;15489334;14970230;14580332;12788495;12477932;12163484;11836511;10440860;10340843;10224039;10221984;9442887;9210392;17662945;2874839 8992 E5RHL5;J3KN48;O15342 ABBA01044032;ABBA01044033;ABBA01044034;AC008429;AI198465;AK312068;AMYH01015820;BC119714;BC119715;BF691381;CH471062;CR456856;CR542131;NM_003945;Y15286 AAI19715;AAI19716;BAG35004;CAA75571;CAG33137;CAG46928;EAW61417;EAW61418;NP_003936;O15342 Hs.484188 1338235;1725815;2153864;2179618;2181528 D1S2666;G61995;L28302;RH47638;STS-H56007 ATP6H;ATP6V0E;M9.2;Vma21;Vma21p H(+)-transporting two-sector ATPase, subunit H;OTTHUMP00000161073;OTTHUMP00000223525;V-ATPase 9.2 kDa membrane accessory protein;V-ATPase H subunit;V-ATPase M9.2 subunit;V-ATPase subunit e 1;V-type proton ATPase subunit e 1;vacuolar ATP synthase subunit H;vacuolar proton pump H subunit;vacuolar proton pump subunit e 1;vacuolar proton-ATPase subunit M9.2 APPROVED protein-coding 863 04894 603931 REVIEWED 1604142 ATP6V0E2-AS1 ATP6V0E2 antisense RNA 1 7 7 7 q36.1 144233999 144240162 - 149200898 149201884 - 149564783 149570951 - 16344560;12690205;12477932 401431 AACC02000041;ABBA01033639;AC004877;AC093458;AMYH01018126;AW452405;BC023225;BC028735;CH471146;DA083383;NR_027040 EAL24438;EAW80024 Hs.556998 1658457;1661539;1676194;1716189;1850653;2135315;2154250;2162741 D7S2075E;D7S2637;GDB:1318310;RH121117;RH48950;RH65674;RH92234;WIAF-1599 APPROVED miscrna ENSG00000204934 44180 17391 VALIDATED 1606137 ATP6V0E2 ATPase, H+ transporting V0 subunit e2 Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 [PubMed 17350184]).[supplied by OMIM, Mar 2008] 7 7 7 q36.1 144239268 144246884 + 149200990 149208720 + 149570057 149577787 + 6480464;6907045 17350184;16303743;14702039;12477932;9847074;17662945;2874839 155066 E9PAS2;F8WDM2;Q8N7I8 AA912295;AACC02000041;ABBA01033639;ABBA01033640;AC093458;AF452639;AK057700;AK094602;AK098362;AK172725;AK290086;AMYH01018126;AY037164;BC015899;BX640846;CH471146;DB544557;DQ989009;DQ995344;NM_001100592;NM_145230 AAK67647;AAP97693;AAQ96859;ABK76305;ABK88279;BAC05292;BAF82775;CAE45916;EAW80020;EAW80021;EAW80022;EAW80023;NP_001094062;NP_660265;Q8NHE4 Hs.698060 1661539;1770532;1790539;1850117 A002C21;GDB:1318310;HSC185_(GAP_113_G);WI-15316 ATP6V0E2L;C7orf32 ATPase, H+ transporting V0 subunit E isoform 2-like;ATPase, H+ transporting V0 subunit E2-like;H+-ATPase e2 subunit;OTTHUMP00000212608;OTTHUMP00000212609;OTTHUMP00000212610;OTTHUMP00000212611;V-ATPase subunit e 2;V-type proton ATPase subunit e 2;lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2;vacuolar proton pump subunit e 2;vacuolar proton-ATPase subunit APPROVED protein-coding ENSG00000171130 21723 12920 611019 VALIDATED 1314615 ATP6V0D1 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008] 16 16 q22.1 66029418 66072590 - 67471917 67515089 - 1300048;6480464;6907045 11118322;18752060;19285986;19165527;16713569;15489334;14702039;14597263;14580332;12788495;12477932;11836511;10440860;10340843;10224039;10221984;9442887;9210392;8889548;8250920;2903164;19913121;20628086;17662945;2874839;22990118;21674799;22939629;16196087;22318606;21139048;21890473;21906983;22505724 9114 F5GYQ1;F8WEN9;H3BPS0;H3BQB4;H3BQJ1;H3BSG7;H3BTB4;H3BTB5;H3BUQ0;J3QL14;P61421;R4GN72 ABBA01025437;ABBA01025438;AC009061;AK125522;AK128641;AK300570;AK301630;AK313035;AMYH01007747;BC008861;BI552108;BM677562;CH471092;L05087;NG_011482;NM_004691;X71490 AAC15852;AAH08861;ABM84196;ABM87600;BAG35868;BAH13305;BAH13524;CAA50591;EAW83135;EAW83136;NP_004682;P61421 Hs.106876 1655578;1678361;1794062;1794466;1794468;5015619;5022578;5037552;5109281 D11S3114;D1S1423;D1S1425;D8S2279;PMC310777P2;PMC314306P7;PMC314306P8;RH11782;RH65050 ATP6D;ATP6DV;FLJ43534;P39;VATX;VMA6;VPATPD 32 kDa accessory protein;ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D;H(+)-transporting two-sector ATPase, subunit D;OTTHUMP00000174810;V-ATPase 40 KDa accessory protein;V-ATPase AC39 subunit;V-ATPase subunit d 1;V-ATPase, subunit D;V-type proton ATPase subunit d 1;atpase, h+ transporting, lysosomal 38kda, v0 subunit d isoform 1;vacuolar proton pump subunit d 1 APPROVED protein-coding ENSG00000159720 13724 06121 607028 REVIEWED 1321627 ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008] 2 2 p13.1 71016506 71046069 + 71162998 71192561 + 1580863;1599372;6480464;6907045 9916796 12414817;16433694;19008710;18180394;17216496;16344560;14702039;14597263;14580332;12788495;12579397;12500243;12477932;11836511;10915794;10748165;10440860;10340843;10224039;10221984;9442887;9210392;8889548;8849440;8597961;8125298;7945239;2527371;12651853;17662945;2874839;19478356;16928804;19639346;20233014;19913121;20622307;20628086;14585495;21674799;22939629;20805693 525 C9J5E3;C9JL73;C9JNS9;C9JTN0;C9JZ02;P15313 ABBA01075545;AC007040;AK127853;AK223151;AK291121;AK301542;AK313194;AMYH01010425;AU126647;BC035978;BC063411;CA944873;CH471053;DA845716;M25809;NG_008016;NM_001692 AAA36498;AAH63411;BAD96871;BAF83810;BAG36011;BAG63039;EAW99790;EAW99791;NP_001683;P15313 Hs.64173 1779084;2148892;2189427 MARC_5799-5800:991939724:4;SHGC-14337;STS-AA019900 ATP6B1;MGC32642;RTA1B;VATB;VMA2;VPP3 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (Renal tubular acidosis with deafness);H(+)-transporting two-sector ATPase, 58kD subunit;H+-ATPase beta 1 subunit;OTTHUMP00000160125;OTTHUMP00000204311;V-ATPase B1 subunit;V-ATPase subunit B 1;V-type proton ATPase subunit B, kidney isoform;atpase, h+ transporting, lysosomal 56/58kda, v1 subunit b, isoform 1 (renal tubular acidosis with deafness);endomembrane proton pump 58 kDa subunit;vacuolar proton pump 3;vacuolar proton pump subunit B 1;vacuolar proton pump, subunit 3 APPROVED protein-coding ENSG00000116039 853 01887 192132 REVIEWED 1351681 ATP6V1E1P1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 1 1 1 1 p34.2 41650890 41651570 + 43141451 43142170 + 43368903 43369583 + 343515 ABBA01050970;AC099795;AMYH01000555;NG_016586 1666812;1744395 GDB:452644;WI-15321 ATP6EP1;ATP6V1EP1 APPROVED pseudo 859 INFERRED 1323585 ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008] 3 3 q13.31 114948598 115013593 + 113465866 113530905 + 1580863;6480464;6907045 8463241;19405953;19110265;17576770;15952740;15489334;14597263;14580332;12788495;12477932;11991713;11836511;11741979;10931946;10440860;10340843;10224039;10221984;9442887;9210392;7575517;20717956;17662945;2874839;21674799;22939629;22863883;18781797;21139048;21693764;21890473;21900206;21906983;21987572;19322201;19471022;21145461;22561749;22053931;22505724 523 B7Z1R5;C9JA17;C9JVW8;F8WDJ3;P38606 ABBA01061648;ABBA01061649;ABBA01061650;AC079944;AC108693;AF113129;AF339827;AK293804;AK295150;AK314779;AL514316;AMYH01013398;BC012169;BC013138;BT006672;CA435314;CH471052;DC350361;L09235;NM_001690 AAA83249;AAF14870;AAH13138;AAP35318;BAG37315;BAH11601;BAH11992;EAW79625;EAW79626;EAW79627;EAW79628;NP_001681;P38606 Hs.477155 1671201;1672133;1705310;1735280;2124331;5022450;5037552;5092796 A006E45;D10S275;D3S2929E;D8S2279;G32335;SHGC-77211;SHGC-78613;STS-H75776 ATP6A1;ATP6V1A1;HO68;VA68;VPP2;Vma1 ATPase, H+ transporting, lysosomal, subunit A1;H(+)-transporting two-sector ATPase, subunit A;H+-transporting ATPase chain A, vacuolar (VA68 type);OTTHUMP00000214746;V-ATPase 69 kDa subunit 1;V-ATPase A subunit 1;V-ATPase subunit A;V-type proton ATPase catalytic subunit A;vacuolar ATP synthase catalytic subunit A, ubiquitous isoform;vacuolar ATPase isoform VA68;vacuolar proton pump alpha subunit 1;vacuolar proton pump subunit alpha APPROVED protein-coding ENSG00000114573 851 06120 607027 REVIEWED 1343908 ATP6V1E1P2 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 2 18 24532165 24532468 - 100462844;532 ABBA01022568;AC023575;AMYH01008906;NG_026284;NG_029856 1744373 GDB:452617 ATP6EP2;ATP6V1EP2 APPROVED pseudo 860 INFERRED 1348896 ATP6V1E1P3 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 3 12 12 12 q14.2 64397785 64398741 - 63018219 63018898 - 64731729 64732685 - 729435 ABBA01026608;AC135279;AMYH01004547;NG_009357 ATP6EL1;ATP6V1EL1 APPROVED pseudo 858 INFERRED 1354342 ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008] 2 2 2 10777001 10840382 + 10779226 10842687 + 10861775 10925236 + 1580863;6480464;6907045 16344560;16042619;15203218;14597263;14580332;12788495;12477932;12384298;11836511;20379614;17662945;2874839;23247143 245973 Q8NEY4 ABBA01015627;ABBA01015628;ABBA01015629;ABBA01015630;ABBA01015631;AC092687;AK127836;AK292952;AMYH01010106;AY039759;BC012142;BX358022;CD636943;CH471053;DB230703;NM_001039362;NM_144583 AAH12142;AAK83464;AAY24069;ABM83181;ABW03480;BAF85641;EAX00951;EAX00952;NP_001034451;NP_653184;Q8NEY4 Hs.580464 2156296;2160682;2163822;2166235;2178708;5113908 G30227;RH11818;RH70399;RH94195;SGC31703;WI-18107 ATP6C2;VMA5 OTTHUMP00000115522;OTTHUMP00000200400;V-ATPase C2 subunit;V-ATPase subunit C 2;V-type proton ATPase subunit C 2;atpase, h+ transporting, lysosomal 42kda, v1 subunit c isoform 2;vacuolar proton pump subunit C 2 APPROVED protein-coding ENSG00000143882 18264 16523 REVIEWED 732120 ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008] 8 8 p21.3 20098984 20123487 + 20054704 20079207 + 1300048;1580863;6480464;6907045 11836511;10440860;10340843;10224039;10221984;9442887;9210392;7945239;7706273;1373501;2145275;17081065;15489334;14702039;14597263;14580332;12788495;12670943;12643545;12477932;20889312;18029348;20038947;20379614;20381070;17662945;2874839;22863883;21674799;22939629;21139048;21890473;21906983 526 E5RGH6;H0YAT8;H0YC04;H0YC45;P21281 AB208806;ABBA01021549;AC025853;AK127443;AK294163;AK298819;AK312372;AMYH01018559;BC003100;BC007309;BC030640;CH471080;HI574180;L35249;M60346;NM_001693;X62949;Z37165 AAA35610;AAA58661;AAH03100;AAH07309;AAH30640;ABM82763;ABM85949;BAD92043;BAG35290;BAG57486;BAG60951;CAA44721;CAA85522;CBX47579;EAW63758;EAW63759;NP_001684;P21281 Hs.295917 1661966;1723391;1771141;2107867;5114923 ATP6V1B2_8221;D8S1949;RH118507;RH69321;WI-19010 ATP6B1B2;ATP6B2;HO57;VATB;VPP3;Vma2 H+ transporting two-sector ATPase;OTTHUMP00000161707;V-ATPase B2 subunit;V-ATPase subunit B 2;V-type proton ATPase subunit B, brain isoform;atpase, h+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kda, isoform 2;endomembrane proton pump 58 kDa subunit;vacuolar H+-ATPase 56,000 subunit;vacuolar proton pump subunit B 2 APPROVED protein-coding ENSG00000147416 854 06088 606939 REVIEWED 1348011 ATP6V1G1P1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 1 14 14 14 q32.33 86181251 86182739 - 106250833 106252309 - 106250833 106252309 - 319116 ABBA01074082;AL122127;AMYH01006100;NG_001019 ATP6V1GP1 APPROVED pseudo 19816 VALIDATED 1322350 ATP6V1C1 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008] 8 8 8 q22.3 100220060 100272082 + 104102424 104154461 + 104033248 104085285 + 1300048;1580863;6480464;6907045 16415858;8250920;16344560;15489334;14702039;14597263;14580332;12890556;12788495;12477932;11836511;11752456;10440860;10340843;10224039;10221984;9442887;9210392;2147024;17662945;2874839;20379614;17207965;20819778;21674799;22939629;22863883;21526910;21139048;21890473;21906983 528 E7EV59;P21283 AA242944;ABBA01037628;ABBA01037629;AF363578;AK000064;AK090702;AK298617;AK308632;AL707882;AMYH01018944;AP003550;AU137773;AV649881;AW505309;BC010960;BI821321;BX648079;CH471060;J05682;NM_001695;X69151 AAA36803;AAH10960;AAL50383;ACE86916;ACE87603;ADQ31698;BAH12829;CAA48903;EAW91859;EAW91860;NP_001686;P21283 Hs.86905 1778623;2123959;2180290;2181338;2219022 ATP6V1C1__4398;D8S1610;RH78580;SHGC-2582;STS-N33243 ATP6C;ATP6D;FLJ20057;VATC;Vma5 H(+)-transporting two-sector ATPase, subunit C;H+ -ATPase C subunit;H+-transporting ATPase chain C, vacuolar;OTTHUMP00000227403;OTTHUMP00000227404;OTTHUMP00000227405;OTTHUMP00000227406;V-ATPase C subunit;V-ATPase subunit C 1;V-type proton ATPase subunit C 1;subunit C of vacuolar proton-ATPase V1 domain;vacuolar ATP synthase subunit C;vacuolar proton pump C subunit;vacuolar proton pump subunit C 1;vacuolar proton pump, 42-kD subunit;vacuolar proton-ATPase, subunit C, VI domain APPROVED protein-coding ENSG00000155097 856 04371 603097 REVIEWED 1605148 ATP6V1G1P2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 2 8 8 8 q11.21 44088910 44089946 + 48224788 48227012 - 48105626 48105972 - 100128541 ABBA01018447;AC120036;AMYH01018700;NG_022387 1735824 D8S1428E ATP6V1GP2 APPROVED pseudo 29359 INFERRED 3051015 ATP6V1G1P3 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 3 9 9 110188024 110188301 + 139674390 139674667 + 100462838 ABBA01022721;AL355987;AMYH01021874;NG_021680 pseudo 37670 INFERRED 3051013 ATP6V1G1P4 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 4 10 10 35212574 35212905 + 35447234 35447565 + 100462843 ABBA01033345;AL157783;AMYH01002235;NG_022168;NG_029065 pseudo 37671 INFERRED 3051014 ATP6V1G1P5 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 5 5 5 146780369 146780722 + 150698986 150699339 + 100462840 ABBA01026263;AC008385;AMYH01015711;NG_021901 pseudo 37672 INFERRED 6480950 ATP6V1G1P7 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 7 13 104096370 104097918 - 100874514 ABBA01027066;AL354763;AMYH01005344;NG_032360 pseudo 39852 INFERRED 3077590 ATP6V1G1P6 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 6 5 5 q14.1 73410887 73411255 + 77518079 77518447 + 100462732 ABBA01061993;AC112197;AMYH01015431;NG_021444 1705370 SHGC-83541 pseudo 37673 INFERRED 1348353 ATP6V1D ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008] 14 14 14 q23-q24.2 47863642 47885645 - 66874342 66896344 - 67804581 67826720 - 1580863;6480464;6907045 18752060;15489334;14702039;14597263;14580332;12788495;12477932;11913976;11836511;11435709;10931946;10440860;10340843;10224039;10221984;9210392;9442887;17207965;19913121;20628086;16344560;8889548;17662945;2874839;21674799;22939629;21139048 51382 G3V2S6;G3V2V6;G3V341;G3V3T8;G3V559;G3V5S7;H0YJ55;H0YJH8;H0YJS0;Q9Y5K8 ABBA01023713;AF077614;AF100741;AF104629;AF145316;AK001155;AK315784;AL139785;AMYH01005812;AMYH01005813;BC001411;BC025373;BC031002;BF669634;BG236185;BU726615;CH471061;DB039102;NM_015994 AAD33953;AAD40384;AAG30726;AAG43047;AAH01411;AAH25373;AAH31002;ADQ32056;BAA91523;BAG38130;EAW80931;EAW80932;NP_057078;Q9Y5K8 Hs.272630 1722233;1744205;2152022;2163968;2175730;2178836 A002U41;G36025;G60022;GDB:437525;RH11239;RH48795 ATP6M;VATD;VMA8 ATPase, H+ transporting lysosomal, member M;ATPase, H+ transporting, lysosomal (vacuolar proton pump);H(+)-transporting two-sector ATPase, subunit M;OTTHUMP00000245545;OTTHUMP00000245549;OTTHUMP00000245550;OTTHUMP00000245551;OTTHUMP00000245552;V-ATPase 28 kDa accessory protein;V-ATPase D subunit;V-ATPase subunit D;V-type proton ATPase subunit D;vacuolar ATP synthase subunit D;vacuolar H-ATPase subunit D;vacuolar proton pump D subunit;vacuolar proton pump delta polypeptide;vacuolar proton pump subunit D;vacuolar proton-ATPase subunit D APPROVED protein-coding 13527 16524 609398 REVIEWED 1347206 ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008] 22 22 q11.1 16454902 16491588 - 18074902 18111588 - 1580863;6480464;6907045 14667819;8250920;16196101;16169070;16155006;15489334;14597263;14580332;12788495;12477932;12163484;12036578;11836511;11560919;11399750;11381032;10915794;10748165;10440860;10340843;10224039;10221984;9442887;9405660;9210392;8004105;1533641;17662945;2874839;22395867;21674799;21832049;22863883;22939629;21139048;21900206;21906983;22505724 529 C9J8H1;P36543;Q53Y06 ABBA01001440;ABBA01001441;ABBA01001442;ABBA01001443;ABBA01001444;AC004019;AC006285;AC007666;AI565049;AK294623;AK312394;AK315941;AMYH01012435;AW406069;BC004443;BE735148;BI546032;BI597419;BQ888820;BT007128;CH471193;CK005516;CR456385;NG_009214;NM_001039366;NM_001039367;NM_001696;X71491;X76228 AAH04443;AAP35792;ACE86484;ACE87165;BAG35311;BAG57804;BAH14312;CAA50592;CAA53814;CAG30271;CAK54374;CAK54673;EAW57762;EAW57763;EAW57764;EAW57765;NP_001034455;NP_001034456;NP_001687;P36543 Hs.517338 1666812;1675696;1694628;1744373;1744395;1756533;1779037;2218272;5024384 ATP6V1E1_4399;G43351;GDB:452617;GDB:452644;RH1695;RH79089;SHGC-143563;SHGC-36174;WI-15321 ATP6E;ATP6E2;ATP6V1E;P31;Vma4 H(+)-transporting two-sector ATPase, 31kDa subunit;H+-transporting ATP synthase chain E, vacuolar;OTTHUMP00000065606;OTTHUMP00000196213;OTTHUMP00000214152;OTTHUMP00000214153;V-ATPase 31 kDa subunit;V-ATPase subunit E 1;V-ATPase, subunit E;V-type proton ATPase subunit E 1;vacuolar proton pump subunit E 1 APPROVED protein-coding ENSG00000131100 857 00163 108746 REVIEWED 1323263 ATP6V1E2 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 2 2 2 p21 46577658 46585772 - 46592490 46600600 - 46738986 46747096 - 1580863;6480464;6907045 15815621;15489334;14702039;14597263;14580332;12788495;12477932;12036578;11836511;10748165;17207965;17662945;2874839;21906983 90423 Q96A05 AB074759;ABBA01075137;AC018682;AK058055;AMYH01010315;BC008981;BC034808;BG717423;CH471053;NM_080653 AAH08981;AAH34808;AAY14833;ADQ31586;BAB71643;BAC00847;EAX00253;NP_542384;Q96A05 Hs.659656 ATP6E1;ATP6EL2;ATP6V1EL2;MGC9341;VMA4 OTTHUMP00000159034;V-ATPase subunit E 2;V-type proton ATPase subunit E 2;atpase, h+ transporting, lysosomal 31kda, v1 subunit e isoform 2;vacuolar proton pump subunit E 2;vacuolar-type proton-translocating ATPase subunit E1 protein-coding ENSG00000250565 18125 16525 VALIDATED 1320793 ATP6V1G1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq, Jul 2008] 9 9 9 q32 87997647 88008806 + 116389815 116400973 + 117349994 117361152 + 1298632;1580863;6480464;6907045 9653160 9210392;16189514;16169070;15489334;14597263;14580332;12788495;12477932;12384298;11836511;11042152;10440860;10340843;10224039;10221984;9442887;16751776;17207965;17662945;2874839;17360703;22863883;21674799;21832049;22939629;21139048 9550 O75348 ABBA01042665;AF038954;AI092246;AL160275;AMYH01021674;BC003564;BC008452;BF692207;BI596632;CH471090;CR456971;CR542237;NM_004888 AAC39868;AAH08452;ADQ32411;CAG33252;CAG47033;EAW87424;EAW87425;NP_004879;O75348 Hs.388654 1681544 RH98627 ATP6G;ATP6G1;ATP6GL;ATP6J;DKFZp547P234;Vma10 ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J;OTTHUMP00000022758;V-ATPase 13 kDa subunit 1;V-ATPase subunit G 1;V-type proton ATPase subunit G 1;atpase, h+ transporting, lysosomal 13kda, v1 subunit g isoform 1;vacuolar ATP synthase subunit M16;vacuolar H(+)-ATPase subunit G 1;vacuolar proton pump subunit G 1;vacuolar proton pump subunit M16 APPROVED protein-coding 864 06294 607296 REVIEWED 1351850 ATP6V1F ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein. [provided by RefSeq, Jul 2008] 7 7 q32 128290134 128293138 + 128502857 128505903 + 631896;1580863;6480464;6907045 8621738 8581736;18752060;15489334;14597263;14580332;12788495;12690205;12477932;11836511;10440860;10340843;10224039;10221984;9442887;9210392;8012384;16169070;8889548;17662945;2874839;19723111;22863883;22939629;21139048;21890473;21906983;22053931;22505724 9296 A4D1K0;Q16864 AACC02000035;ABBA01057652;AC025594;AK312214;AMYH01017924;BC104230;BC104231;BC107854;BG724326;BU683155;BU956696;CH236950;CH471070;CR456896;D49400;DB499437;NM_001198909;NM_004231;Z55117;Z61564 AAI04231;AAI04232;AAI07855;BAA08392;BAG35147;CAG33177;EAL24110;EAW83692;EAW83693;NP_001185838;NP_004222;Q16864 Hs.78089 1667669;1736316;2176542;2217050;5017560;5024147 ATP6V1F;ATP6V1F_3928;D12S1251E;D12S1957;G23109;WI-14997 ATP6S14;MGC117321;MGC126037;MGC126038;VATF;Vma7 ATPase, vacuolar, 14 kD;H(+)-transporting two-sector ATPase, 14kD subunit;OTTHUMP00000212841;OTTHUMP00000212842;V-ATPase 14 kDa subunit;V-ATPase F subunit;V-ATPase subunit F;V-type proton ATPase subunit F;adenosinetriphosphatase 14k chain;vacuolar ATP synthase subunit F;vacuolar proton pump F subunit;vacuolar proton pump subunit F APPROVED protein-coding ENSG00000128524 16832 06198 607160 REVIEWED 5133074 ATP6V1G2-DDX39B ATP6V1G2-DDX39B readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) and DDX39B (DEAD box polypeptide 39B) genes located in the major histocompatibility complex class III region of chromosome 6. The read-through transcript and is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 6 p 31497996 31514625 - 12477932;16101831;20967262;21912425;22197932 100532737 C9JRT2;F2Z307 ABBA01038080;ABBA01038081;AL662801;AL662847;AMYH01016217;BC004350;BX001040;BX248516;BX927320;CR753820;CR753864;CR753892;CR942185;CT009531;NR_037853 Hs.254042 1689300;1728965;5017795 CH241-100F12_SP6;D17H6S81E-1;RH1521 APPROVED miscrna ENSG00000254870 41999 VALIDATED 3051021 ATP7BP1 ATPase, Cu++ transporting, beta polypeptide pseudogene 1 18 18 16805945 16806424 - 19998780 19999259 - 100462825 ABBA01022660;AC099849;AMYH01008881;NG_022482 pseudo 31014 INFERRED 1347481 ATP6V1G2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011] 6 6 p21.3 31620218 31622606 - 31512228 31514625 - 1302931;1580863;6480464;6907045 10202016 14574404;12788495;12665801;12477932;12384298;11836511;10440860;10340843;10224039;10221984;9442887;9210392;14667819;17081065;14597263;14580332;17662945;2874839;19851445;20379614;19913121;20628086;20854863;15342556;16101831;16971954;21139048 534 H0Y474;O95670;Q6NVJ2 AA401769;AB063177;AB088115;AB097672;AB102692;AB103621;AB202112;ABBA01038081;AL662801;AL662847;AMYH01016217;BA000025;BC047791;BC068023;BC119726;BC119727;BP195978;BX001040;BX248516;BX927320;C20601;CH471081;CR753820;CR753864;CR753892;CR942185;NG_012344;NM_001204078;NM_130463;NM_138282;Y14768 AAH68023;AAI19727;AAI19728;BAB63399;BAC00863;BAC54952;BAD74057;BAD74058;BAE78636;BAF31286;CAA75073;EAX03414;EAX03416;NP_001191007;NP_569730;NP_612139;O95670 Hs.249227 1682267;2218274 ATP6V1G2_4400;RH93173 ATP6G;ATP6G2;NG38;VMA10 ATPase, H+ transporting, lysosomal (vacuolar proton pump);ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G;H(+)-transporting two-sector ATPase, subunit G2;OTTHUMP00000029286;OTTHUMP00000165896;OTTHUMP00000215151;V-ATPase 13 kDa subunit 2;V-ATPase G subunit 2;V-ATPase subunit G 2;V-type proton ATPase subunit G 2;atpase, h+ transporting, lysosomal 13kda, v1 subunit g isoform 2;vacuolar ATP synthase subunit G 2;vacuolar proton pump G subunit 2;vacuolar proton pump subunit G 2 APPROVED protein-coding ENSG00000213760 862 06030 606853 REVIEWED 5128956 ATP8A2P1 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 1 10 10 37307813 37324335 + 37537046 37553565 + 100422505 ABBA01033304;AL157387;AMYH01002259;NG_025483 pseudo 39662 INFERRED 5131587 ATP8A2P2 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 2 13 33051311 33052987 + 100533851 ABBA01010141;AL137247;AL353665;AMYH01005021;NG_028886 pseudo 39663 INFERRED 6480957 ATP8A2P3 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 3 13 26688547 26728313 - 22159054 100874518 ABBA01007912;AL138966;AMYH01004982;NG_032522 pseudo 42641 INFERRED 10216 ATP7A ATPase, Cu++ transporting, alpha polypeptide This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans-Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked cutis laxa, and occipital horn syndrome. [provided by RefSeq, Oct 2011] X X q21.1 77052876 77192208 + 77166194 77305892 + 734621;1580863;6480464;7240710 10739752 21494555;10079817;10079814;9693104;9668166;9437429;9246006;9147644;8981948;8947031;8923001;8490659;8490647;8490646;7977350;7842019;7607665;7490081;9817923;15670166;10497213;16397091;11092760;9467005;8943055;10567439;12812980;19194885;19127267;18752978;18688737;18565219;18515074;18272047;18030470;17989919;17987894;17717039;17562324;17545667;17531189;17496194;17178205;17158254;17109627;17108763;16884690;16873374;16826513;16344560;16317117;16211579;16172131;16083905;16051599;15981243;15772651;15342556;15135234;14977365;14644159;14635105;14572476;12679332;12676902;12565888;12539963;12539960;12485192;12221109;11936860;11431706;11350187;11241493;11214319;11040994;10970802;10557326;10484781;10401004;10319589;15071553;20671235;19046832;19453293;19645496;19917612;20045993;20170900;14985388;19679821;20714486;20566629;21117320;22710939;22939629;21242307;21115196;14702039;21646353;22053931;21667063;22130675;22074552;21139048;22304828;20301586;22210628 538 B4DRW0;Q04656;Q762B6 AB117973;AB208828;ABBA01029575;ABBA01029576;ABBA01029577;ABBA01029578;ABBA01029579;ABBA01029580;ABBA01029581;ABBA01029582;ABBA01029583;ABBA01029584;ABBA01029585;ABBA01029586;ABBA01029587;ABBA01029588;ABBA01029589;AK096667;AK299449;AL356235;AL645821;AL772330;AMYH01022630;AY011418;BP364137;BU753163;BX503903;CD299174;CH471104;DB164588;HC679684;L06133;L06476;NG_013224;NM_000052;U27360;U27381;X82336;Z94753;Z94801 AAA16974;AAA35580;AAA96010;AAG47452;AAI56438;BAC82353;BAD92065;BAG61422;CAB08160;CAB08162;CAB94714;CBL93959;EAW98605;EAW98606;NP_000043;Q04656 Hs.496414;Hs.733232 1335235;1336636;1702604;1703164;1744143;1854132;1854134;2110275;2129677;2144288;2151213;2155472;2156606;2184550;5015619;5020946;5022200;5024413;5109281;5117080;5117082;5117086;5117088;7186248 AL023617;ATP7A__4401;D11S3114;D1S1425;DXS1494;DXS6743;DXS986;DXS990;G10612;G18202;GDB:392043;GDB:435280;GDB:435283;GDB:435290;GDB:435294;GDB:437238;L17877;L17971;L18426;L47618;L77252;SHGC-31483;SHGC-8964 DSMAX;FLJ17790;MK;MNK;SMAX3 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome);Cu++-transporting P-type ATPase;Menkes disease-associated protein;OTTHUMP00000023593;atpase, cu++ transporting, alpha polypeptide;copper pump 1;copper-transporting ATPase 1 APPROVED protein-coding ENSG00000165240 869 02054 300011;300489;304150;309400 REVIEWED 1312186 ATP6V1G3 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'' and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q31.3 171614921 171632643 - 196758975 196776698 - 198492352 198510075 - 1580863;6480464;6907045 17360703;19366680;16710414;15489334;14597263;14580332;12788495;12477932;12384298;11836511;10440860;10340843;10224039;10221984;9442887;9210392;1415677;17662945;2874839 127124 Q96LB4 ABBA01027578;AC212752;AL157402;AMYH01001627;AY039760;BC101129;BC101130;BC101131;BF509031;BX114684;CH471067;NM_133262;NM_133326 AAI01130;AAI01131;AAI01132;AAK83465;EAW91298;EAW91299;NP_573569;NP_579872;Q96LB4 Hs.127743 ATP6G3;MGC119810;MGC119813;Vma10 ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G3;OTTHUMP00000033686;OTTHUMP00000216846;OTTHUMP00000216847;V-ATPase 13 kDa subunit 3;V-ATPase G subunit 3;V-ATPase G3 subunit;V-ATPase subunit G 3;V-type proton ATPase subunit G 3;vacuolar ATP synthase subunit G 3;vacuolar proton pump G subunit 3;vacuolar proton pump subunit G 3;vacuolar proton pump, subunit G3 APPROVED protein-coding ENSG00000151418 18265 16526 REVIEWED 1320053 ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 p13 42858235 43107011 - 42105147 42353879 - 42410390 42659122 - 631958;1580863;6480464 9548971 10198212;18519826;17229723;15342556;12477932;11015572;9110174;8619474;22610502;20379614;15071553;15919184;21890473 10396 H0Y8I6;H0YAA1;H0YAF4;H0YAJ4;Q4G1C1;Q9Y2Q0 AB013452;AB209687;ABBA01014289;ABBA01014290;ABBA01014291;AC084010;AC096734;AC110788;AC139717;AF035315;AF067820;AK027252;AMYH01014134;AMYH01014135;AMYH01014136;BC020943;BC109317;BC109318;BP232466;BX648675;CH471069;NM_001105529;NM_006095 AAD34706;AAH20943;AAI09318;AAI09319;AAY40924;AAY40980;BAA77248;BAD92924;EAW93003;EAW93004;NP_001098999;NP_006086;Q9Y2Q0 Hs.435052 1666218;1762875;1764889;1771993;2108705;2114584;2157074;2170377;2185466 ATP8A1_9102;D4S1207;D4S3277;G09524;SHGC-146639;SHGC-148448;SHGC-36481;SHGC-59604;WI-19830 ATPASEII;ATPIA;ATPP2;MGC130042;MGC130043;MGC26327 ATPase II;ATPase class I type 8A member 1;OTTHUMP00000125252;OTTHUMP00000219630;aminophospholipid translocase;chromaffin granule ATPase II;probable phospholipid-transporting ATPase IA APPROVED protein-coding ENSG00000124406 13531 16527 609542 REVIEWED 1344629 ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2 13 13 13 q12 7010413 7663625 + 24844209 25493420 + 25946209 26595420 + 1580863;6480464 20889312;10551800;15057823;14702039;11015572;12477932;19778899;20379614;21454556;23568457;17621610;22797925 51761 B1ALJ8;B7Z880;F8W9B3;Q6ZSP3;Q6ZU25;Q9NTI2 ABBA01007904;ABBA01007905;ABBA01007906;ABBA01007907;ABBA01007908;ABBA01007909;ABBA01007910;ABBA01007911;AF236871;AK094653;AK126031;AK127263;AK302980;AK310254;AL136438;AL137256;AL138815;AL138958;AL157366;AL356316;AL390129;AL669971;AMYH01004978;AMYH01004979;AMYH01004980;AMYH01004981;BC144228;BC144229;BX537836;CH471075;NM_016529 AAF40215;AAI56472;AAI72535;BAC04396;BAC86402;BAC86905;BAH13866;CAB70658;CAB99084;CAD97848;EAX08372;EAX08373;EAX08374;EAX08375;EAX08376;NP_057613;Q9NTI2 Hs.444957 1338479;1339261;1339480;1646323;1655824;1656059;1703582;1710810;1716589;1718865;1730259;1731875;1737495;1737531;1739263;1748443;1750399;1757815;1759193;1759763;1779630;2124081;2143410;2164692;5094266;5127969;7187903 D13S1035;D13S1055;D13S1126;D13S1191;D13S1285;D13S1294;D13S182E;D13S221;D13S308;D13S809;G54675;G64210;RH121640;RH123137;SHGC-112580;SHGC-146587;SHGC-150884;SHGC-151273;SHGC-152561;SHGC-153606;SHGC-82790;SHGC-84149;STS-Z41450;WI-12595;WI-14830;WI-14969 ATP;ATPIB;CAMRQ4;DKFZp434B1913;IB;ML-1 ATPase class I type 8A member 2;ATPase, aminophospholipid transporter-like, class I, type 8A, member 2;OTTHUMP00000018151;probable phospholipid-transporting ATPase IB APPROVED protein-coding 13533 05795 605870;615268 VALIDATED 1352358 ATP8B5 ATPase, Class I, type 8B, member 5 11015572 57195 13537 731392 ATP7B ATPase, Cu++ transporting, beta polypeptide This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008] 13 13 q14.3 51404806 51483631 - 52506805 52585630 - 734622;2292670;2298865;1643593;2298864;2292672;6480464;7240710 8037756;11802810;12216079;16488995;15790435;17303181 16567646;12029094;12763797;16472602;16554302;16884690;15269005;16939419;8298641;15681833;19478447;19419418;19371217;19296535;19181666;19141620;19062534;19033537;18974300;18855987;18841562;18809983;18698682;18692069;18688737;18652531;18637198;18636185;18593893;18565219;18558714;18521802;18483695;18373411;18371106;18203200;18180385;17949296;17944925;17919502;17897870;17876883;17823867;17718866;17717039;17680703;17660582;17634212;17587212;17562324;17531189;17410460;17325640;17317524;17272994;17229731;17171802;17160357;17109627;16700326;16676348;16632204;16571664;16416207;16377579;16310588;16283883;16230279;16215951;9600907;9554743;9482578;9311736;9307043;9222767;8980283;8938442;8931691;8889549;8782057;8533760;8298640;8298639;8250934;7833924;7762553;7626145;16088907;15967699;15963506;15952988;15845031;15557537;15519648;15511628;15337266;15205462;15158437;15154620;15135234;15102688;15057823;15024742;14986826;14966923;14709553;14616767;14514926;12968035;12885331;12820478;12812649;12579336;12579329;12557139;12551905;12544487;12539962;12539960;12477932;12445675;12325021;12196182;12186999;11857545;11823463;11806854;11775546;11775208;11690702;11470780;11405812;11243728;11180609;11053407;11043508;10942420;10940336;10790207;10721669;10557326;10544227;10502777;10502776;10497213;10447265;10334941;10051024;9887381;9829905;9772425;9724794;9671269;16211609;21398519;22258517;23650006;22692182;15071553;20931554;12572677;19046832;19416479;19520855;19634275;19645496;19783880;20032459;20045993;20082719;20124325;20201926;20362556;20465995;20491539;17196137;21189263;23518715;20708958;20333758;20739809;20485189;20965182;20799727;20566629;20430895;21117320;20301685;21219664;21242307;21406592;21115196;22484412;22763723;21034864;16344560;8889548;22046264;21454443;21645214;22898812;22145502;22356903;21139048;21796144;21890473;22950421;22075048;22720273;22240481;19322201;22459168;22574136;21832955;22130675;22677543;16573520;23221602;23235335;22720308;23159873;22774841 540 B7ZLR4;E7EQQ2;E7ET55;F5H562;F5H748;F6XIH0;P35670 AA047378;AB209461;ABBA01051051;ABBA01051052;ABBA01051053;AF034838;AF220215;AF254559;AF254560;AK302074;AK302490;AL138821;AL139082;AL162377;AMYH01005116;BC117200;BC143973;BC143974;BC143975;BC143976;BU682287;BX479483;BX648261;CH471075;DA125470;DQ015922;L25442;L25591;NG_008806;NM_000053;NM_001005918;NM_001243182;S77446;S77447;S77450;U03464;U11700 AAA16173;AAA79211;AAA79212;AAA92667;AAB34086;AAB34087;AAB52902;AAD01998;AAD14987;AAF67661;AAG27536;AAG27537;AAI17201;AAI43974;AAI43976;AAI43977;AAY41166;BAD92698;BAG63463;BAG63775;EAX08892;EAX08893;EAX08894;EAX08895;EAX08896;NP_000044;NP_001005918;NP_001230111;P35670 Hs.492280 1648904;1675814;1703832;1720049;1744567;1744569;1744571;1744573;1744575;1744577;1744579;1744581;1744587;1744589;1744591;1744601;1744603;1744605;1744607;1744609;1744611;1744613;1744615;1762651;1763361;2130628;2156518;2218276 ATP7B_4402;D19S1101;GDB:532997;GDB:533003;GDB:533006;GDB:533013;GDB:533021;GDB:533046;GDB:533050;GDB:533057;GDB:542970;GDB:542978;GDB:542982;GDB:547725;GDB:547728;GDB:547732;GDB:547739;GDB:547748;GDB:547753;GDB:547758;GDB:547771;RH123821;RH45092;RH98917;SHGC-146451;SHGC-147086;SHGC-79066;SHGC-8883 PWD;WC1;WD;WND ATPase, Cu(2+)- transporting, beta polypeptide;OTTHUMP00000018794;Wilson disease-associated protein;copper pump 2;copper-transporting ATPase 2 APPROVED protein-coding ENSG00000123191 870 06050 277900;606882 REVIEWED 1320995 ATP6V1H ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 8 8 q11.2 54790668 54918403 - 54628103 54755871 - 1580863;6480464;6907045 9442887;9620685;11179428;12032142;16103193;2014052;18368028;15489334;14702039;14597263;14580332;12788495;12539959;12477932;12163484;12058068;11836511;10931946;10810093;11463741;16169070;19815536;2874839;22863883;21674799;22939629;21871445;22360420;20639865;21987572;21139048;21890473;21906983;11329013;16344560;21963094;21988832;23000965;23092984;20488787;22053931 51606 B3KUZ7;E5RG49;E5RHH0;E5RJG1;E5RK31;G3V126;H0YB41;Q9UI12 ABBA01041720;ABBA01041721;ABBA01041722;ABBA01041723;ABBA01041724;ABBA01041725;AC022887;AC103778;AC113194;AF112204;AF113222;AF125105;AF132945;AF298777;AI741756;AK022345;AK094839;AK098305;AK303229;AK308204;AL598970;AL833183;AMYH01018721;AMYH01018722;AMYH01018723;BC007421;BC007454;BC014862;BC025275;BG197001;CH471068;DA147153;DB464555;NM_015941;NM_213619;NM_213620 AAD27720;AAF17192;AAG22809;AAG39293;AAH25275;AAL75942;BAG51072;BAG53609;BAG64316;EAW86727;EAW86728;EAW86729;EAW86730;EAW86731;EAW86732;EAW86733;NP_057025;NP_998784;NP_998785;Q9UI12 Hs.491737 1739771;1857809;1858544;2125844;2137802;2155061;2157946 2004;A003B09;D20S765E;IB299;RH12012;RH46206;SHGC-56460 CGI-11;MSTP042;NBP1;SFD;SFDalpha;SFDbeta;VMA13 OTTHUMP00000226227;OTTHUMP00000226228;OTTHUMP00000226253;OTTHUMP00000226254;V-ATPase 50/57 kDa subunits;V-ATPase H subunit;V-ATPase subunit H;V-type proton ATPase subunit H;nef-binding protein 1;protein VMA13 homolog;vacuolar ATP synthase subunit H;vacuolar ATPase subunit H;vacuolar proton pump H subunit;vacuolar proton pump subunit H;vacuolar proton pump subunit SFD APPROVED protein-coding ENSG00000047249 18303 10591 608861 REVIEWED 1318284 ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008] 18 18 q21.31 53464656 53550037 - 55313658 55470327 - 1580863;1599397;6480464;7240710 9500542 12880872;16628629;11682026;19478059;19228886;19027009;18951430;18668687;17948906;15946126;15888793;15489334;15239083;14988830;12477932;11093741;11015572;10679031;9918928;9548971;7894490;7655458;5762004;16341674;19381753;19479804;19731236;19809379;19890347;19918981;20038848;20232290;20512993;20447715;20852622;20216097;20414253;20683201;15071553;15919184;23060447;20301474;22001757;23213138;23251605 5205 K7EQC4;K7ERI0;K7ESK2;O43520 AA234929;ABBA01056133;ABBA01056134;ABBA01056135;ABBA01056136;ABBA01056137;ABBA01056138;ABBA01056139;ABBA01056140;AC022724;AC027097;AF032442;AF038007;AI625486;AI914078;AK128536;AMYH01009024;AMYH01009025;BC003534;BG403134;BM796053;CB052296;CH471096;CV572801;DR005588;NG_007148;NM_005603 AAC04328;AAC63461;AAH03534;AAI72221;EAW63054;EAW63055;NP_005594;O43520 Hs.216623 1338440;1668482;1789016;5015404;5016851;5020946;5024413 D18S381;G36359;G65640;L17705;L17877;L17971;RH80031 ATPIC;BRIC;FIC1;ICP1;PFIC;PFIC1 ATPase, class I, type 8B, member 1;E1-E2 ATPase;OTTHUMP00000163615;familial intrahepatic cholestasis type 1;phospholipid-transporting ATPase IC;probable phospholipid-transporting ATPase IC APPROVED protein-coding ENSG00000081923 3706 03867 147480;211600;243300;602397 REVIEWED 1316924 ATP8B3 ATPase, aminophospholipid transporter, class I, type 8B, member 3 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 19 19 19 p13.3 1716184 1746354 - 1733074 1763270 - 1782074 1812275 - 1580863;6480464 12880872;14702039;12477932;11015572;19416921;21890473;21906983;16344560;21963094;23251661 148229 F5GZM8;F5H3R9;H0YFS1;H0YH38;K7EJ52;O60423 ABBA01002684;ABBA01002685;ABBA01002686;ABBA01002687;AC004755;AC012615;AK057452;AK058189;AK125225;AK125969;AMYH01009264;AMYH01009265;AMYH01009266;AW444739;AY302538;BC033179;BC035162;BU542181;BX427831;CD365734;CH471139;DA111464;DB453086;NM_001178002;NM_138813;NR_047593 AAC17601;AAH35162;AAQ19028;BAB71492;BAB71708;BAC86088;EAW69454;EAW69455;EAW69456;EAW69457;EAW69458;EAW69459;EAW69460;EAW69461;EAW69462;EAW69463;NP_001171473;NP_620168;O60423 Hs.306212 1697272;5015879;5016478 GDB:314949;GDB:434012;RH102133 ATPIK ATPase, class I, type 8B, member 3;OTTHUMP00000232124;OTTHUMP00000232125;aminophospholipid translocase ATP8B3;potential phospholipid-transporting ATPase IK;probable phospholipid-transporting ATPase IK APPROVED protein-coding ENSG00000130270 13535 05793 605866 REVIEWED 1604224 ATP8B5P ATPase, class I, type 8B, member 5, pseudogene 9 9 9 p13.3 35338740 35415016 + 35396752 35473026 + 35406752 35483026 + 12477932;19657017;20210993 158381 ABBA01064993;AK310278;AL133476;AL160274;AL592145;AMYH01019344;AMYH01019345;BC031276;BC035229;BC047452;BC130448;BC130450;CH471071;NR_003581;NR_003582 EAW58379;EAW58380;EAW58381;EAW58382 Hs.575661 1660863;1690336;1752065;1770403;1770405 A005R04;D9S2099;G20429;RH92867;SHGC-106014 FetA APPROVED pseudo ENSG00000179766 27245 18739 PROVISIONAL 6770716 ATPBD4-AS1 ATPBD4 antisense RNA 1 (head to head) 15 35838396 36151202 + 100507466 ABBA01038500;ABBA01038501;ABBA01038502;AC015994;AC068867;AC087487;AMYH01006542;AMYH01006543;BC025664;NR_038251 Hs.536420 1654234;1718243 G17868;RH122891 APPROVED miscrna ENSG00000248079 44147 VALIDATED 1318635 ATP8B2 ATPase, aminophospholipid transporter, class I, type 8B, member 2 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 127369751 127395492 + 152564660 152590404 + 154298036 154323780 + 1580863;6480464 12880872;15489334;14702039;12477932;11015572;10574461;19913121;20628086;15071553;15919184;21890473 57198 P98198;Q6P3T1 AB032963;ABBA01049481;AI857468;AK054886;AK304806;AL137537;AL162591;AMYH01001415;AY302537;BC007837;BC030288;BC041573;BC063858;BC069264;CH471121;NM_001005855;NM_020452 AAH07837;AAH30288;AAH63858;AAH69264;AAI40442;AAQ19027;BAA86451;BAB70822;BAG65556;CAB70799;EAW53204;EAW53205;EAW53206;EAW53207;EAW53208;NP_001005855;NP_065185;P98198 Hs.435700 1337159;2187481;5024035;5037552 D13S116;D8S2279;DXS8011;RH69640 ATPID;DKFZp434M0219;KIAA1137 ATPase, class I, type 8B, member 2;OTTHUMP00000034193;OTTHUMP00000034317;phospholipid-transporting ATPase ID;probable phospholipid-transporting ATPase ID APPROVED protein-coding ENSG00000143515 13534 05794 605867 REVIEWED 1315485 ATP8B4 ATPase, class I, type 8B, member 4 This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 15 15 15 q21.2 27043704 27304104 - 47937727 48198711 - 50150435 50411419 - 1580863;6480464 16572171;14702039;12880872;12477932;11853319;11015572;10737800;17998437;20379614;23087808 79895 H0YK53;H0YL60;H0YLC1;H0YLJ1;H0YM66;H0YMB5;H0YMP8;Q6PG43;Q8TF62 AB075819;ABBA01039119;ABBA01039120;ABBA01039121;AC009753;AC016045;AC025040;AK025125;AK123747;AK128602;AMYH01006633;AMYH01006634;BC057236;BC144297;BC144298;BE241899;BF898163;BF898268;BI258773;BX647496;CH471082;JA738691;NM_024837;NR_073596;NR_073597;NR_073598 AAH57236;AAI66692;BAB15072;BAB85525;BAG53950;CCF76998;EAW77380;EAW77381;EAW77382;EAW77383;NP_079113;Q8TF62 Hs.511311 1714829;1716823;2136102;2169890 D15S1509;RH120409;RH121707;RH70043 ATPIM;FLJ25418 potential phospholipid-transporting ATPase IM;probable phospholipid-transporting ATPase IM protein-coding ENSG00000104043 13536 10681 609123 REVIEWED 1313436 ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011] 1 1 1 p33-p32.3 45385744 45421450 - 46870996 46906686 - 47100711 47134099 - 6480464 12965202;12477932;12206899;11410595;20379614;20877624;16344560;15789402;20579638;21696813;21139048 64756 A8MRA7;E9PPX6;H0YCA6;H0YD21;H0YDD6;H0YEW4;I3L1W9;I3L448;Q5TC12 ABBA01050836;AF111705;AI188403;AJ710373;AK026004;AK296360;AK301874;AK302090;AK310338;AK311271;AL136373;AL593856;AMYH01000588;BC008498;BC018781;BC071731;BX438342;CH471059;DA244814;DB448244;DB483450;NM_001042546;NM_001243728;NM_001256418;NM_022745 AAH08498;AAH18781;AAH71731;AAM12421;ACE86499;ACE87180;BAB15316;BAH12330;BAH13572;BAH13622;EAX06896;EAX06897;NP_001036011;NP_001230657;NP_001243347;NP_073582;Q5TC12 Hs.100874 1644220;1644222;1849448;2170811 A005B23;D1S3533;G20246;G34811 ATP11;ATP11p;FLJ22351;FLJ55378;FLJ60653;MGC88060 ATP synthase mitochondrial F1 complex assembly factor 1;ATP11 homolog;OTTHUMP00000009681;OTTHUMP00000231564;OTTHUMP00000231566;OTTHUMP00000231567;OTTHUMP00000231568;homolog of yeast ATP11 APPROVED protein-coding ENSG00000123472 18803 12332 608917 REVIEWED 735480 ATP9A ATPase, class II, type 9A 20 20 20 q13.2 46917463 47089610 - 49646721 49818315 - 50213314 50384908 - 1580863;6480464 18519826;14702039;12477932;11780052;11015572;9734811;21145461;20379614;21182205;21890473 10079 Q96B35;Q9NQK7 AB014511;ABBA01052804;ABBA01052805;ABBA01052806;ABBA01052807;AF086357;AK025559;AK026513;AK172802;AK299064;AL035684;AL138807;AL353799;AMYH01011983;BC016044;BC036759;BC043392;BC063701;BC110591;BC110592;CH471077;NM_006045 AAH16044;AAI10592;AAI10593;AAI67819;BAA31586;BAD18775;BAG61130;EAW75597;EAW75598;EAW75599;EAW75600;NP_006036;O75110 Hs.743248 1335601;1652485;1672111;1691680;1710078;1771383;2120211;2145714;2145716;2155488;2156506;2169984;2169986;2170971;2177860;2218278 A001W29;A005Y41;A008B25;A009A38;AL032541;ATP9A_4405;D20S185;D20S457;D20S579E;D20S620;G19718;G20606;RH12445;RH45440;RH48521;SHGC-83700 ATPIIA;KIAA0611 ATPase type IV, phospholipid-transporting (P-type),(putative);OTTHUMP00000043369;OTTHUMP00000043371;phospholipid-transporting ATPase IIA;probable phospholipid-transporting ATPase IIA protein-coding ENSG00000054793 13540 18541 609126 VALIDATED 1353015 ATP9B ATPase, class II, type 9B 18 18 18 q23 73601459 73911517 + 74930385 75239271 + 76829397 77138283 + 631958;1580863;6480464 9548971 22525042;16177791;14702039;12477932;11124703;11015572;22118674 374868 B3KSI8;B4DJ94;F5H8J1;K7EII3;K7EJG1;K7EJP9;K7EJS3;K7EL57;K7EPH4;K7EQ39;K7EQQ5;K7ERE0;K7ES39;O43861;Q69YZ7;Q7Z3J4;Q7Z6L4 AB373110;ABBA01013884;ABBA01013885;ABBA01013886;AC023090;AC099689;AC104423;AC125437;AJ006268;AK093704;AK097757;AK127634;AK128142;AK128847;AK130499;AK130839;AK295981;AK308291;AL096735;AMYH01009127;AMYH01009128;AW411030;BC022535;BC036473;BC037546;BC053561;BC125219;BC125220;BX537860;BX648948;CH471117;NM_198531;U78978 AAC05243;AAH53561;AAI25220;AAI25221;BAC85365;BAC85443;BAC87065;BAC87644;BAG52750;BAG58756;BAM15576;CAA06934;CAD97865;CAH10731;EAW66609;EAW66610;EAW66611;EAW66612;EAW66613;EAW66614;EAW66615;EAW66616;NP_940933;O43861 Hs.465475 1341670;1657187;1701458;1707430;1717935;1721013;1725309;1750419;1762549;1768237;1778344;1850088;1850191;1858366;2140038;2182593;5015607;5020423;5021872;5022651;5022710;5037552;5115198;5118342 A004F30;A004V34;ATP9B;D11S1053;D11S2442;D11S2921;D11S3014;D11S3206;D18S1022;D18S1141;D18S909E;D8S2279;G59488;RH104361;RH118972;RH122794;RH45957;SHGC-112592;SHGC-146363;SHGC-84507;WI-10807;WI-11906;WI-3064;sY3084 ATPASEP;ATPIIB;DKFZp686H2093;FLJ46612;HUSSY-20;MGC150650;MGC150651;MGC61572;NEO1L;hMMR1 ATPase type IV, phospholipid transporting (P-type);OTTHUMP00000163815;macrophage MHC receptor 1;probable phospholipid-transporting ATPase IIB protein-coding ENSG00000166377 13541 16528 614446 VALIDATED 1314047 ATR ataxia telangiectasia and Rad3 related The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008] 3 3 q23 143650767 143780358 - 142168077 142297668 - 1580863;1599404;2317234;6480464;6484113;6907045;7240710 12640452;18381943 22341969;16713580;14657349;8610130;9590286;15538388;15707391;19470935;19372558;19351817;19285939;19244116;19242509;19197236;19146767;19124506;19119425;19116388;19109555;19097996;19074885;19064572;19064565;19004803;18985806;18950845;18936170;18757420;18664457;18625709;18550533;18536714;18519640;18495871;18480045;18451257;18451105;18434539;18357388;18245444;18202016;18162465;18032786;18025301;18003706;17976513;17934520;17879369;17716975;17686975;17638878;17616665;17616578;17526493;17478428;17409144;17384681;17376433;17292679;17210576;17157788;17140287;17124492;17035231;17030982;17015476;17010193;16968694;16951182;16909103;16880517;16827800;16757521;16741947;16738325;16705183;16675950;16540648;16530042;16474843;16461339;16436511;16431910;16293623;16260606;16195237;16086026;16009130;15987455;15854902;15758953;15743907;15734998;15680327;15650165;15635413;15616588;15539948;15533933;15527801;15496423;15466211;15456891;15451423;15374968;15314022;15302935;15282542;15279777;15235112;15210935;15050919;14988723;14871897;14755251;14742437;14729973;14724280;12959929;12915485;12814551;12791985;12791699;12773400;12766152;12738771;12679521;12629512;12526805;12519769;12493754;12446774;12147700;12024051;12011431;11927575;11883897;11865061;11799063;11790298;11721054;11715017;11709713;11688760;11673449;11551930;11470508;11459832;11418864;11393670;11390642;11252893;11163154;11114888;10973490;10951572;10889046;10859164;10749680;10747897;10673501;10608806;10597277;10545197;9925639;9857181;9766667;9765199;9636169;9427750;8978690;8843195;16956949;16354571;16306615;15650754;15485898;15159397;11278964;11016625;15933716;15775976;15195100;21308861;20427287;20566845;20084458;20818375;15149599;16943440;17148452;18642075;18931676;19154794;19444312;19477925;19527713;19536649;19570909;19584262;19586908;19633697;19690177;19805520;19828454;19903823;20029092;20048340;20060399;20103595;20147462;20233725;20453000;20469721;20496165;20513533;9733515;20861269;19714462;20515729;20616048;20634891;20810650;16872911;18995830;20731661;16488880;20801936;21034966;21144835;14729972;17260016;17272271;20427275;15640246;18283122;18344416;21242293;20368801;21294646;21383502;21659603;21270107;21285353;23176708;21224401;21502314;21705319;21284603;17118963;17384638;20798688;20847938;21680529;16051665;21859891;23592782;22807682;22740051;22939629;21566061;21976111;22948311;17620599;22318606;21139048;21890473;21906983;21995812;20930849;21857991;21908846;21998596;23144622;23454212;22174788;10435622;22556425;22123827;22159421;22084169;18160036;16122426;23284306;23438602;19330022;22184063;22621920;22842784;16122425;18583959;20424596;21963094;22435685;23000965;23345434;23272087;23255133;22535492;23135710;18514189;19275579;19275588;19798433;20005840;20008788;20012529;20347598;21874023;21994772;22053931;22505724;23029527;19889979;22735644;22179839;22713662;23178497 545 D6RFJ6;D6RIG7;H0Y8R8;H0Y8Y6;H0Y9K2;H0Y9Q8;Q13535 A61385;AB208847;ABBA01059023;ABBA01059024;AC109992;AC134509;AF325699;AK307402;AMYH01013547;BE859077;CH471052;DC346860;NG_008951;NM_001184;U49844;U76308;Y09077 AAC50405;AAC50929;AAI72404;AAK26749;BAD92084;CAA03590;CAA70298;EAW78969;EAW78970;NP_001175;Q13535 Hs.271791 1334531;1335767;1341516;1656842;1784772;1789150;2115980;2145597;2150987;7187906 A008V33;D3S1316;D3S3694;D3S3710;G65709;GDB:4585095;SHGC-154915;SHGC-33010;STS-U76308 FCTCS;FRP1;MEC1;SCKL;SCKL1 FRAP-related protein 1;FRAP-related protein-1;MEC1, mitosis entry checkpoint 1, homolog;OTTHUMP00000214450;Rad3 related protein;ataxia telangiectasia and Rad3-related protein;protein kinase ATR;serine/threonine-protein kinase ATR APPROVED protein-coding ENSG00000175054 882 08369 210600;601215;602089;614564 REVIEWED 1313025 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 18862395 18883635 - 17862059 17883205 - 17921334 17942480 - 1580863;6480464;7240710 11410595;14757859;11256614;16381901;15489336;15489334;12477932;11997338;11076863;9110174;8619474;19933271;20167577;20877624;21832049;22318606 91647 C9J2Q2;J3KTB2;K7ELC1;Q8N5M1 AA760883;ABBA01009741;ABBA01009742;AC087163;AF052185;AF070584;AI857387;AK290257;AK294487;AMYH01008163;AY203943;BC004114;BC032126;CH471196;NG_012824;NM_145691 AAH04114;AAH32126;AAP34466;BAF82946;BAG57709;CAL38119;EAW55676;EAW55677;EAW55678;EAW55679;EAW55680;NP_663729;Q8N5M1 Hs.528889 1775977;2114675;2170247 D17S2021;RH11962;SHGC-24341 ATP12;ATP12p;LP3663;MC5DN1;MGC29736 ATP synthase mitochondrial F1 complex assembly factor 2;ATP12 homolog;OTTHUMP00000065658;OTTHUMP00000065659;OTTHUMP00000065660 APPROVED protein-coding ENSG00000171953 18802 10599 604273;608918 REVIEWED 1607060 ATRNL1 attractin-like 1 10 10 10 q26 110582194 111437829 + 116843114 117698486 + 116853124 117708496 + 5144214;6480464 20654690 12477932;14531729;9628581;16385451;18821597;20379614;21130836 26033 B4DH41;B5MD97;E9PL90;F5H129;H0YDQ9;Q5VV63;R4GMZ1 AB011106;ABBA01062965;ABBA01062966;ABBA01062967;ABBA01062968;ABBA01062969;AC022542;AC091667;AK127277;AK294917;AK299592;AL355530;AL356100;AL357059;AL392087;AL512304;AMYH01003091;AMYH01003092;AMYH01003093;AMYH01003094;AMYH01003095;AW190029;AY442317;BC029592;BC035157;BC046219;BC047716;BC139916;BC139923;BX500409;CH471066;NM_001276282;NM_207303;NR_074088 AAH35157;AAH47716;AAI39917;AAI39924;AAI68382;AAR14297;BAA25460;BAC86914;BAG58002;BAG61524;EAW49459;EAW49460;EAW49461;NP_001263211;NP_997186;Q5VV63 Hs.501127 1338508;1665313;1670413;1680549;1703482;1706664;1782224;2121729;2132946;2134143;2135289;2135888;2171179;2178662;5019677 164ZG11;A008Q18;A009D06;D10S1254;D10S468;G17535;G32438;RH44336;RH46537;RH77766;RH80415;SHGC-82598;SHGC-82820;SHGC-84428;STS-Z40891 ALP;FLJ45344;KIAA0534;bA338L11.1;bA454H24.1 OTTHUMP00000020555;attractin-like protein 1 protein-coding ENSG00000107518 29063 12504 612869 VALIDATED 1323150 ATRAID all-trans retinoic acid-induced differentiation factor This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. The use of alternative splice sites and promotors result in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2009] 2 2 2 p23.3 27281225 27286373 + 27288403 27293557 + 27434899 27440046 + 6480464 17524364;17387583;15815621;15489334;15340161;12975309;12477932;11042152;10948432;8889548;16169070;23284715;21832049;21723284;23036366 51374 C9JA62;Q6UW56 AA604432;AB009017;ABBA01045199;AC013403;AF077037;AF144055;AF275744;AK291894;AMYH01010195;AW966996;AY358968;BC002846;BC011006;BC021237;BC035850;BI194121;BQ420456;BQ718371;BQ962996;CA450289;CD513162;CF126865;CH471053;NM_001170795;NM_016085;NM_080592 AAD27770;AAD31317;AAH02846;AAH11006;AAH21237;AAH35850;AAK69412;AAQ89327;AAX93173;BAF80618;BAF84583;EAX00615;EAX00616;EAX00617;EAX00618;EAX00619;NP_001164266;NP_057169;NP_542159;Q6UW56 Hs.9527 1712186;2181945 G54144;RH70745 APR--3;APR-3;APR3;C2orf28;HSPC013;PRO240;p18 OTTHUMP00000158506;OTTHUMP00000201023;OTTHUMP00000201024;all-trans retinoic acid-induced differentiation factor;apoptosis related protein 3;apoptosis related protein APR-3;apoptosis-related protein 3 APPROVED protein-coding ENSG00000138085 24090 16652 REVIEWED 1312589 ATPIF1 ATPase inhibitory factor 1 This gene encodes a mitochondrial ATPase inhibitor. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 p35.3 28435198 28437198 + 28562602 28564616 + 1580863;6480464 15528193;12110673;10664857;17851741;16806233;16713569;15809073;15635413;15489334;14702039;12477932;11742976;16169070;20379614;20538613;18029348;20877624;20374090;15342556;16344560;23135403;19559621;22342343;18624398;21900206 93974 Q9UII2 AB029042;ABBA01035017;AF114836;AK000934;AK316600;AL050386;AL353622;AL583540;AMYH01000427;AY005470;BC004955;BC009677;BC017562;BG036978;BG337531;BG714388;BP271519;BT009849;CH471059;CR457097;DB030607;NM_016311;NM_178190;NM_178191 AAF97495;AAH04955;AAH09677;AAP88851;AAP97235;ACE86960;ACE87650;BAA88422;BAG38187;CAG33378;CAI46227;EAX07704;EAX07705;EAX07706;NP_057395;NP_835497;NP_835498;Q9UII2 Hs.590908 1779562;2117475 D1S3569;SHGC-153535 ATPI;ATPIP;IP;MGC1167;MGC8898 ATP synthase inhibitor protein;ATPase inhibitor protein;ATPase inhibitor, mitochondrial;IF(1);IF1;OTTHUMP00000003642;OTTHUMP00000234891;OTTHUMP00000234894;inhibitor of F(1)F(o)-ATPase APPROVED protein-coding ENSG00000130770 871 16529 614981 REVIEWED 1625848 ATRIP ATR interacting protein This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012] 3 3 p21.31 48463222 48482058 + 48488114 48507054 + 6480464 20834067;14657349;15707391;12791985;18950845;17638878;17616665;17339343;17327276;17203973;17171639;16959771;16713580;16530042;16407120;16186122;16176973;16027118;15758953;15743907;15527801;15489334;15451423;15210935;14724280;14702039;12477932;11721054;11278605;11181995;15798197;19097996;16189514;20048340;18283122;18344416;18480432;18995830;20861269;19913121;20628086;18162465;21285353;17384638;20847938;17686975;23144622;23454212;21859891;20930849;22210626;19471022;14729973;15371427;18519640;20616048;21615334;21775519;21777809;22258451;18583959;23345434 84126 C9IZM8;F8WE08;F8WEI5;Q8WUG7 ABBA01024647;ABBA01024648;ABBA01024649;ABBA01024650;AC104448;AF451323;AK022405;AK291568;AK291829;AK300548;AK315075;AL832917;AMYH01013149;BC014153;BC020563;BC030597;CB960784;CH471055;DC402185;NM_001271022;NM_001271023;NM_032166;NM_130384 AAH14153;AAH20563;AAH30597;AAL38042;ABM83164;ABM86364;BAB14029;BAF84257;BAF84518;BAG37544;BAG62254;CAH10621;EAW64875;EAW64876;EAW64877;EAW64878;EAW64879;EAW64880;EAW64881;EAW64882;NP_001257951;NP_001257952;NP_115542;NP_569055;Q8WXE1 Hs.694840 1848310;2135800 STS-Z41083;WI-21042 DKFZp762J2115;FLJ12343;MGC20625;MGC21482;MGC26740 ATM and Rad3-related-interacting protein;ATR-interacting protein;OTTHUMP00000164811;OTTHUMP00000164812;OTTHUMP00000210129 APPROVED protein-coding ENSG00000164053 33499 606605 REVIEWED 69117 ATRN attractin Multiple transcript variants encoding different isoforms exist for this gene. One of the isoforms is a membrane-bound protein with sequence similarity to the mouse mahogany protein, a receptor involved in controlling obesity. The other two isoforms are secreted proteins involved in the initial immune cell clustering during inflammatory responses that may regulate the chemotactic activity of chemokines. [provided by RefSeq, May 2011] 20 20 p13 3399676 3579765 + 3451665 3631769 + 734623;1580863;1299186;5144214;6480464 10086355;12379762;20654690 10086356;9736737;19384953;19320733;16835316;16344560;16335952;15489334;14760718;12675230;12665801;12477932;11780052;10811918;9628581;8596018;1476071;17261078;20198559;19535787;20379614;18624398;21139048;21890473;22268729 8455 B4DZ36;Q9NTQ3 AA771958;AB011120;ABBA01053824;ABBA01053825;ABBA01053826;AF106861;AF218889;AF218910;AF218915;AK000356;AK293010;AK302730;AL109805;AL132773;AL353193;AMYH01011676;BC009724;BC101705;BE326239;CH471133;DA368237;DB240822;EC440053;NG_029406;NM_001207047;NM_139321;NM_139322 AAD03057;AAF72881;AAF72882;AAH09724;AAI01706;BAA25474;BAF85699;BAG63948;EAX10530;EAX10531;EAX10532;NP_001193976;NP_647537;NP_647538;O75882 Hs.276252 1336081;1651420;1670726;1734192;1793008;2122794;2177750;2177752;2178840;2183768;2184786 A005O05;D20S1122;D20S473;D20S516E;D20S813;D20S828;G18070;G20370;PMC18552P1;RH11545;Z94714 DPPT-L;KIAA0548;MGC126754;MGCA OTTHUMP00000030102;OTTHUMP00000030103;attractin;attractin-2;mahogany homolog;mahogany protein APPROVED protein-coding ENSG00000088812 885 04388 603130 REVIEWED 1605736 ATRX alpha thalassemia/mental retardation syndrome X-linked The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. The mutations of this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] X X q21.1 76647012 76928375 - 76760356 77041719 - 6480464;7240710 21310198;8242062;7697714;12953102;17353931;10742099;10570185;7874112;19088125;19064565;19017809;18922870;18409179;18227278;17957225;17609377;17579672;17296936;17081983;16537041;16480427;16376512;16344560;16266892;15882967;15772651;15635413;15591283;15508018;15466868;15350606;15302935;14990586;14690447;14645126;14592816;12858175;12777533;12477932;12205100;12116232;11823444;11050622;10995512;10851248;10751095;10737800;10699177;10660327;10398237;10204841;9499421;9326931;9321665;9244431;9043863;8968741;8889548;8630485;8162050;8001970;3658675;3177467;1684092;1605216;1415255;16169070;10417298;22240898;21029860;15964851;19129197;19671661;19764021;20110566;20147399;20159591;8503439;19394292;21056573;21209221;16712791;19919584;20301622;21421568;20651253;21719641;15252119;21252315;23104868;23135716;21501635;21505078;17118963;20504901;21267006;21666677;21666679;22886134;19444003;22416102;15840729;21851155;20309963;21139048;21693764;21885354;21890473;21906983;23185534;22583365;22102817;19471022;21986699;22021382;22391447;22129561;21252943;22089611;22356911;22829774;15231748;23391111;23329831;22976303;22575867;22869205;22787211 546 H0Y3T0;Q5H9A3;Q7Z2J1 AA484729;AA732359;AB101681;AB101682;AB101683;AB101684;AB101685;AB101686;AB101687;AB101688;AB101689;AB101690;AB101691;AB101692;AB101693;AB101694;AB101695;AB101696;AB101697;AB101698;AB101699;AB101700;AB102641;AB208928;AB209545;ABBA01029609;ABBA01029610;ABBA01029611;ABBA01029612;ABBA01029613;ABBA01029614;ABBA01029615;ABBA01029616;ABBA01029617;ABBA01029618;ABBA01029619;ABBA01029620;ABBA01029621;ABBA01029622;ABBA01029623;ABBA01029624;ABBA01029625;ABBA01029626;ABBA01029627;ABBA01029628;ABBA01029629;ABBA01029630;ABBA01029631;ABBA01029632;ABBA01029633;ABBA01029634;ABBA01029635;ABBA01029636;ABBA01029637;ABBA01029638;ABBA01029639;ABBA01029640;ABBA01029641;ABBA01029642;ABBA01029643;ABBA01029644;ABBA01029645;ABBA01029646;ABBA01029647;ABBA01029648;ABBA01029649;AC233293;AC233305;AI733378;AK293241;AK295107;AK296959;AK297183;AK307791;AK308419;AL109753;AL121874;AL138743;AMYH01022628;AMYH01022629;AMYH01022630;BC002521;BE927791;BM714186;BQ189245;BT007188;BX647222;CB114986;CH471104;DA759777;DR422800;L33812;L34363;NG_008838;NM_000489;NM_138270;U09820;U72935;U72936;U72937;U72938;U75653;U97103;X83753;Z84487 AAA20872;AAB40698;AAB40699;AAB40700;AAB49969;AAB49970;AAB49971;AAC50069;AAC51655;AAC51657;AAH02521;AAI56297;AAP35852;BAC80270;BAC80271;BAC80272;BAC80273;BAC80274;BAC80275;BAC80276;BAC80277;BAC80278;BAC80279;BAC80280;BAC80281;BAC80282;BAC80283;BAC80284;BAC80285;BAC80286;BAC80287;BAC80288;BAC80289;BAC81110;BAD92165;BAD92782;BAG58140;BAG59503;BAG59673;BAH11474;CAA58711;CAB90351;CAI40710;CAI42674;CAI42675;CAI42677;CAI43115;CAI43116;CAI43117;EAW98611;EAW98612;EAW98613;EAW98614;EAW98615;NP_000480;NP_612114;P46100 Hs.533526;Hs.653797 1663208;1666138;1700090;1702244;1702820;1703118;1745193;1745199;1745207;1745213;1745215;1745219;1745223;1745231;1745233;1745239;1745241;1745243;1745245;1745247;1745249;1745253;1745255;1745257;1745259;1745263;1750095;1778907;1795408;2187294;2189463;5016534;5117684;5121815;7184775;7184776 ATRX_1237;DXS56;DXS6980E;DXS9779;GDB:596193;GDB:596198;GDB:596204;GDB:596209;GDB:596212;GDB:596216;GDB:596219;GDB:596225;GDB:596231;GDB:596234;GDB:596239;GDB:596244;GDB:596250;GDB:596255;GDB:596258;GDB:596262;GDB:596276;GDB:596281;GDB:596286;GDB:596290;GDB:596303;GDB:596309;MARC_6759-6760:992007400:1;RH103658;RH47714;SHGC-112339;SHGC-6680;STS-U72937;UniSTS:99785;WI-21664 ATR2;JMS;MGC2094;MRXHF1;RAD54;RAD54L;SFM1;SHS;XH2;XNP;ZNF-HX ATP-dependent helicase ATRX;DNA dependent ATPase and helicase;Juberg-Marsidi syndrome;OTTHUMP00000024265;OTTHUMP00000024266;RAD54 homolog;X-linked helicase II;X-linked nuclear protein;Zinc finger helicase;alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae);helicase 2, X-linked;transcriptional regulator ATRX APPROVED protein-coding ENSG00000085224 886 02069 300032;300448;301040;309580 REVIEWED 1344585 ATXN1 ataxin 1 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010] 6 6 p23 16407322 16869700 - 16299343 16761721 - 1580863;6480464;7240710 16713569;11136710;12757932;15016912;9097953;15615787;7647801;17557114;19259763;19235102;19049837;18519031;18439907;18337722;18231590;18216249;18182848;18160752;17925862;17442486;17190598;16967484;16831871;16614004;16497448;16389595;16380905;16311891;16121196;15878393;15750336;15342556;15300851;15292212;15167689;15148151;14985428;14756671;14583607;14574404;12757707;12741986;12477932;12411613;12360291;12093161;12062018;11973625;11807410;11804332;11781699;11121205;11001934;10713882;9353121;9353120;8872471;8634720;8619528;8358429;7951322;1582256;12659632;22330095;22666429;21315774;17110330;18029348;18166084;19208651;19451621;19500214;19597981;20018885;20069235;20097758;20132795;20220018;20308783;20379614;20477910;22916034;20936779;20301363;17646162;21302343;23197749;21475249;21835928;23275563;23536093;22491195;17127076;22780124;15824120;22511762;23294540;23377640;23719381 6310 P54253;Q96FF1 AA774255;ABBA01022186;ABBA01022187;ABBA01022188;ABBA01022189;ABBA01022190;ABBA01022191;ABBA01022192;AC002112;AC002326;AK311274;AL009031;AL031120;AL034375;AL137003;AMYH01016112;AMYH01016113;AMYH01016114;AMYH01016115;BC010948;BC011026;BC014548;BC029401;BC039236;BC047894;BC063120;BC092446;BC113082;BC117125;BF666802;BF670717;BP365416;BX505133;CH471087;N52856;NG_011571;NM_000332;NM_001128164;S82497;X79204 AAD14401;AAH11026;AAH14548;AAI17126;ADR83271;CAA55793;EAW55370;EAW55371;EAW55372;EAW55373;EAW55374;NP_000323;NP_001121636;P54253 Hs.434961 1336273;1337609;1650871;1658670;1658770;1659587;1668120;1682762;1707200;1725299;1726011;1730193;1739085;1742931;1742933;1745907;1762927;1791390;1796718;1851823;2122064;2122500;2128195;2132451;2149528;2153443;2186910;7186202;7186482 1216;D6S1354;D6S1461;D6S2131;D6S274;D6S288;D6S324E;G15977;G62333;GDB:216047;GDB:216054;GDB:681830;PMC109045P1;RH118967;RH35931;RH46829;RH71007;SCA1_796;SGC30752;SHGC-146680;SHGC-33945;SHGC-79186;STS-AA010260;STS-X79204;WI-16958;WI-19222;WI-9349 ATX1;D6S504E;SCA1 OTTHUMP00000016065;ataxin-1;spinocerebellar ataxia type 1 protein APPROVED protein-coding ENSG00000124788 10548 03333 164400;601556 REVIEWED 1626546 ATXN1L ataxin 1-like 16 16 16 q22.2 56193822 56233096 + 70441087 70448737 + 71879894 71891236 + 6480464 17322884;16344560;16121196;12477932;11181995;10737800;21475249;21697133;16713569 342371 P0C7T5 AB621810;ABBA01016789;AC009127;AC010653;AI720164;AK025113;AK025339;AL833385;AMYH01007792;BC042985;BX537575;BX537596;CH471166;DB097328;NM_001137675 BAK64146;EAW59221;NP_001131147;P0C7T5 Hs.743239 1670974;1673239;1676990;1748411 D16S2943;D8Ertd587e;NIB1158;RH15633 BOAT;BOAT1;DKFZp667N0214;DKFZp686D05115;DKFZp686O1195;FLJ21460;FLJ21686 ataxin-1-like;brother of ATXN1;brother of ataxin 1;brother of ataxin-1 protein-coding ENSG00000224470 33279 614301 VALIDATED 1350255 ATXN7 ataxin 7 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] 3 3 p21.1-p12 63825273 63961367 + 63850233 63989138 + 1580863;6480464;7240710 11371513;18206972;10441328;9288099;19259763;19235102;19172503;18325672;18216249;18182848;17720198;17254003;17026624;16962040;16713569;16389595;16325416;15936949;15932940;15316811;15302935;15148151;15115762;14702039;12944423;12533095;12070661;11804332;11734547;11709544;11697524;11580893;10713882;10598805;9425224;7829101;7647798;21078624;15342556;16494529;19789634;19843541;19909779;19955365;20069235;18029348;21746879;22827889;20634802;20739808;20301433;17375202;20600911;22367614;22917585;20732423;21827908;22072678;23226359;22100762;23236151 6314 H0YAT6;O15265;Q9UPD8 AA398030;ABBA01024312;ABBA01024313;ABBA01024314;AC012557;AC104162;AF020276;AF032102;AF032103;AF032104;AF032105;AF332956;AJ000517;AK125125;AK304062;AK310745;AL134602;AMYH01013248;BI494079;BP220889;CH471055;NG_008227;NM_000333;NM_001128149;NM_001177387 AAB87863;AAC19162;AAC19163;AAC19164;AAC39765;AAI66666;AAL79807;BAG64969;CAA04154;EAW65422;EAW65423;NP_000324;NP_001121621;NP_001170858;O15265 Hs.476595 1654372;1672783;1760029;1768371;2106957;2144331;2163158;2163250;2185836 A007I19;ATXN7_7871;D3S2349;G16540;SGC30565;SGC35083;SHGC-77026;SHGC-77032;SHGC-82827 ADCAII;FLJ17787;OPCA3;SCA7 OTTHUMP00000213403;OTTHUMP00000213405;OTTHUMP00000227997;ataxin-7;spinocerebellar ataxia type 7 protein APPROVED protein-coding ENSG00000163635 10560 06365 164500;607640 REVIEWED 1350736 ATXN7L2 ataxin 7-like 2 1 1 1 p13.3 108295911 108304776 + 109828084 109836879 + 110026561 110035426 + 737633;6480464 12477932 16710414;20383146;16713569;19615732;20125088;20379614 127002 I6L9B5;Q5T6C4;Q5T6C5 ABBA01068378;AK090460;AL355145;AMYH01000933;BC036849;BC037582;NM_153340 AAH36849;BAC03441;NP_699171;Q5T6C5 Hs.118248 1650054 SHGC-75273 FLJ00381;MGC46534 OTTHUMP00000012702;ataxin 7-like 1;ataxin-7-like protein 2 protein-coding ENSG00000162650 28713 12506 VALIDATED 1347160 ATXN2 ataxin 2 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq, Jan 2010] 12 12 q24.1 110374401 110521863 - 111890018 112037480 - 1580863;6480464;7240710 10814712;15663938;17392519;16835262;12812977;17097639;19430479;19401771;19259763;19235102;19049837;18602463;18311140;18265007;18182848;18160752;17923635;17850638;17715286;17712857;17440947;17353931;17149720;16713569;16389595;16205789;16115810;16078202;15826995;15533937;15300851;15265035;15148151;15124760;14756671;14702039;14534423;12940846;12671950;12545161;12524342;12477932;12107410;11872620;11804332;11689490;11471052;11311558;10973246;10713882;9989626;9480749;9225980;8896557;8896556;8896555;8358438;9575182;16169070;16687213;21292779;21646631;22561518;22764223;20647273;20740007;22666429;21479228;18029348;18166084;19430483;19862010;20016785;20069235;20181956;20190752;20383146;20542020;19676102;21045733;21060863;20301452;21383967;20926453;21482525;22868089;23048034;23197749;21670397;21562247;21610160;17000644;22939629;22990118;21880993;21334959;21537950;22916186;18781797;21139048;21741123;21906983;22037902;21889984;21909110;22491195;22493691;19531213;19542561;16009940;21145461;22425256;23172909;20467438;22914732;23222517;23263486;23417110;22035589;23209657 6311 F8VQP2;F8VQS0;F8VRK6;F8VVM4;F8VVY6;F8VW23;F8VZC1;F8VZQ7;F8W0B5;F8WB05;F8WB06;H0YH87;Q24JQ7;Q99700 AA731027;ABBA01019890;ABBA01019891;ABBA01019892;ABBA01019893;ABBA01019894;ABBA01019895;ABBA01019896;ABBA01019897;ABBA01019898;AC002395;AC137055;AI083696;AK128613;AK307803;AL042619;AMYH01004752;BC111757;BC114546;BF448025;CA389718;CH471054;NG_011572;NM_002973;U70323;U80749;Y08262 AAB19200;AAI11758;AAI14547;BAC87528;CAA69589;EAW97957;EAW97958;EAW97959;EAW97960;NP_002964;Q99700 Hs.76253 1336988;1695288;1739389;1745921;1750945;1753005;2116061;2119986;2124432;2141199;2172754;2189349;2191333 D12S1390E;D12S1672;D12S1959;G64274;MARC_17487-17488:1030377680:1;MARC_2373-2374:991932707:1;RH70110;SGC44303;SHGC-104734;SHGC-63004;SHGC-68495;STS-N24020;STS-Y08262 ASL13;ATX2;FLJ46772;SCA2;TNRC13 OTTHUMP00000164680;OTTHUMP00000164681;OTTHUMP00000241635;OTTHUMP00000241637;OTTHUMP00000241638;ataxin-2;spinocerebellar ataxia type 2 protein;trinucleotide repeat containing 13;trinucleotide repeat-containing gene 13 protein APPROVED protein-coding ENSG00000204842 10555 03307 183090;601517 REVIEWED 1606478 ATXN3L ataxin 3-like This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease. [provided by RefSeq, Sep 2011] X X X p22.2 17454431 17456183 - 13246687 13248447 - 13336766 13338518 - 6907045 16344560;15772651;12477932;11450850;21118805;22626734 92552 B4DYC7;Q9H3M9 AB050195;ABBA01071086;AC004674;AK302365;AMYH01022095;BC137186;BC137187;CH471074;DB059638;DB460385;DB525796;DB540973;NG_021356;NM_001135995 AAI37187;AAI37188;BAB18799;BAG63689;EAW98819;NP_001129467;Q9H3M9 Hs.382641 1702558;1751085 DXS1437;SHGC-104952 FLJ59638;MGC168806;MGC168807;MJDL OTTHUMP00000022931;machado-Joseph disease protein 1-like;putative ataxin-3-like protein APPROVED protein-coding ENSG00000123594 24173 REVIEWED 1351525 ATXN10 ataxin 10 This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of a pentanucleotide repeat in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009] 22 22 q13.31 44446351 44619493 + 46067678 46241187 + 724628;1599410;1599412;1580863;6480464;7240710 9973298;11017075;16714295 17353931;16385455;15201271;19259763;19234597;19171184;19147916;18386626;17846122;16498633;15489334;15461802;15148151;15127363;14702039;12477932;12235814;11891842;11256614;11230166;10591208;9818872;8421960;21145461;19936807;20548952;16344560;19835171;20379614;20301354;22863883;21565611;21827910;18781797;20639865;21987572;21139048;21857149;21890473;21906983;21963094;23000965;23026538;23181366;23383273;22053931;22190034;22797925 25814 B1AHE3;B1AHE4;H0Y7N2;Q9UBB4 ABBA01007140;AF086923;AF119662;AK025734;AK095309;AK294348;AL050282;AL137374;AMYH01012851;AMYH01012852;BC007508;BI597255;CH471138;CR456568;CR457381;DB035174;DB548216;NG_016212;NM_001167621;NM_013236;R43701;Z84478;Z93784;Z95331 AAF17219;AAH07508;AAP97153;ABM84166;ABM87569;BAG57616;CAB43383;CAB70715;CAG30454;CAG33662;EAW73392;EAW73393;NP_001161093;NP_037368;Q9UBB4 Hs.475125 1335217;1336946;1646750;1650698;1651367;1651483;1652458;1653734;1655249;1691332;1696960;1711358;1789576;1789578;1789580;1854463;2109075;2140649;2159126;2167125;2181947;5021941;5092970 A009D15;AL008655;AL021662;AL021671;AL022539;AL022558;ATXN10_9416;D22S1161;D22S1202;D22S928;D22S995E;G32443;G64327;G64328;G64329;RH101952;RH45963;RH66155;RH66330;RH80881;SCA10_SNP1;SHGC-82364;WI-11674 E46L;FLJ37990;HUMEEP;SCA10 OTTHUMP00000197383;ataxin-10;brain protein E46 homolog;spinocerebellar ataxia type 10 protein APPROVED protein-coding ENSG00000130638 10549 04624 603516;611150 REVIEWED 1604832 ATXN2L ataxin 2-like This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 p11 27786107 27802989 + 28741915 28756059 + 28834369 28848558 + 6480464 9110174;17392519;17081983;16964243;16713569;15782174;15489334;15302935;15144186;14769358;12477932;11784712;8896555;8619474;21145461;19615732;19915574;20473688;20935630;20811636;17000644;19156129;16009940;21628590;18781797;21139048;21890473;21906983;22586326;15576338;15175327;18729074 11273 H3BMX1;H3BPQ7;H3BQ14;H3BQX7;H3BRB0;H3BSK9;H3BSQ5;H3BUE3;H3BUF6;Q8IU61 ABBA01045688;AC116346;AC133550;AC145285;AF034373;AF070605;AJ317970;AJ317971;AJ317972;AJ317973;AJ317974;AK289981;AL137587;AMYH01007477;AMYH01007478;AY188334;AY188335;AY188336;AY188337;AY188338;BC010239;BC068012;BC082760;BC136584;BC144269;CH471267;NM_007245;NM_017492;NM_145714;NM_148414;NM_148415;NM_148416;U70671 AAB19201;AAC69607;AAH10239;AAH68012;AAH82760;AAI36585;AAO12056;AAO12057;AAO12058;AAO12059;AAO12060;BAF82670;CAC38068;CAC38069;CAC38070;CAC38071;CAC38072;EAW51986;EAW51987;EAW51988;EAW51989;EAW51990;EAW51991;EAW51992;EAW51993;EAW51994;EAW51995;EAW51996;NP_009176;NP_059867;NP_663760;NP_680780;NP_680781;NP_680782;Q8WWM7 Hs.460499 1684481;1696190;1765967;2107869;2130205;2159668;5123977;5124090 ATXN2L_9253;D16S3297;RH66987;RH75914;RH80138;SHGC-149359;SHGC-79036;STS-N24050 A2D;A2LG;A2LP;A2RP OTTHUMP00000122536;OTTHUMP00000122537;OTTHUMP00000122538;ataxin 2 related protein;ataxin-2 domain protein;ataxin-2-like protein;ataxin-2-related protein APPROVED protein-coding ENSG00000168488 31326 06394 607931 REVIEWED 1603419 ATXN8 ataxin 8 Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al., 2006}).[supplied by OMIM, Mar 2010] q21 7240710 19259763;19229559;19203395;18418692;16804541;19714377;20301445;22297462;22053702;21827909;22577844 724066 Q156A1 DQ641254;GQ176777 ABG34539;ADD00781;Q156A1 Hs.532632;Hs.645205 2113574;5016598 G64288;SCA8_SNP1 ATXN3 ataxin-8;protein 1C2 APPROVED protein-coding 32925 608768;613289 1349210 ATXN7L1 ataxin 7-like 1 q22.1 15115762;14702039;12477932;10574462;12421765 57485 C9IZF2;C9K0V9;F8WDE7;H0Y8A2;Q8N7W9;Q9BTQ8;Q9ULK2 AB033044;AK097574;BC003517;BC055009 AAH03517;BAA86532;BAC05107;Q8N7W9;Q9ULK2 Hs.489603 1659549;1666912;1694658;1714759;1721719;1727265;1849103;2123885;2127299;2137720;2147167;2184517;2186107;2191069;5107778 A008Q40;D7S1605;D7S1670;D7S1783;D7S1993;D7S2302;G43507;G59724;G63038;GDB:4585457;GDB:4585481;L17801;MARC_13945-13946:1007583817:1;RH120045;WI-12698 KIAA1218 protein-coding 22210 1348320 AUNA1 auditory neuropathy, autosomal dominant 1 7240710 15520414 378942 23205 609129 1346559 ATXN8OS ATXN8 opposite strand (non-protein coding) This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. [provided by RefSeq, Oct 2008] 13 13 q21 69579346 69611562 + 70681345 70713885 + 7240710 19235102;18841561;18684474;16804541;16054804;15732096;15152344;15148151;14966165;14960773;14756671;12545428;12505613;12431257;12140678;11919683;11807410;11708995;11697524;10888605;10192387;17132942;18708037;19229559;19680445;19680539;20301445 6315 ABBA01050312;AF126749;AL160391;AMYH01005196;NG_016173;NR_002717 Hs.676453 2113574;2128014 D4S2793;SCA8_SNP1 KLHL1AS;NCRNA00003;SCA8 APPROVED miscrna 10561 603680;608768 REVIEWED 1606333 ATXN3 ataxin 3 Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009] 14 14 q21 91598883 91642707 - 92524896 92572965 - 6480464;6907045;7240710 22037589;16525503;16713569;9124802;10915768;7655453;9580663;19492089;19429074;19259763;19235102;19185026;19065528;19049837;18927607;18599482;18449188;18391951;18391950;18385100;18358414;18353661;18182848;18160752;17956866;17948873;17935801;17696782;17693639;17683516;17632007;17626202;17488727;17440947;17434145;17302910;17079677;17000876;16967484;16822850;16791428;16724006;16687213;16624810;16389595;16344560;16126176;16118278;16087686;16040601;15952105;15808507;15767577;15630566;15544810;15537899;15489334;15345714;15316156;15265035;15236410;15223312;15210524;15140190;15128861;15026782;14756671;14746390;14679302;14661975;14659761;14602712;14559776;12944474;12944423;12940846;12914917;12873751;12857950;12832059;12766160;12486728;12477932;12297501;12166658;12127147;12084819;11804332;11450850;11121205;9535906;9274833;8640226;8358439;8125298;7874163;7825578;18199748;22761419;17885668;20625959;23562578;20376803;17082820;18990604;19382171;19503814;19542537;19575245;19615732;19660550;19661182;19672991;19714377;19783548;19843543;20017304;20069235;20140862;20219685;20334689;19935829;20533274;20546612;20637808;20865150;20943656;14749733;20301375;20810784;21060878;20510362;20940148;21118805;23349684;21504740;21855799;21533208;22777171;23100324;21832049;21334959;16196087;21386698;21092747;19240029;21827905;21536589;21869492;21900206;22081612;19175675;21625540;12938929;20622874;21139048;21890473;21906983;18781797;20639865;21987572;22113611;22118674;19013454;22419666;22491195;22129356;11572863;16194547;16939621;18839019;19666135;20414249;22234302;19153604;21963094;22422287;23000965;22843411;23314748;23382880;23383273;22706685;16712842;21780213;22053931;22505724;22626734;22970133;23042605 4287 C9JQV6;D3VVP3;D6R9I5;E9PJN5;F5H211;G3V2G1;G3V2G2;G3V328;G3V390;G3V3A6;G3V3R7;G3V3S5;G3V3T0;G3V3T6;G3V4B1;G3V4F4;G3V4F5;G3V4U9;G3V526;G3V5H3;Q96TC3 AB038653;AB050194;AB209309;ABBA01030459;ABBA01030460;ABBA01030461;ABBA01030462;ABBA01030463;AK225884;AK307720;AK314919;AL049872;AL121773;AMYH01005956;AMYH01005957;BC022245;BC033711;BC095402;BU190081;BU663113;CH471061;DA827537;EU009923;GQ176435;GQ176436;GQ176437;GQ176438;GQ176443;GQ176445;GQ176446;GQ176452;GQ176453;GQ176454;GQ176455;GQ176456;GQ176457;GQ176459;GQ176461;GQ176462;GQ176463;GQ176464;GQ176465;GQ176466;GQ176467;GQ176469;GQ176474;GQ176475;GQ176476;GQ176477;GQ176479;GQ176480;GQ176482;GQ176483;GQ176484;GQ176485;GQ176486;GQ176487;GQ176488;GQ176489;GQ176490;GQ176492;GQ176493;GQ176494;GQ176496;GQ176497;GQ176499;GQ176510;GQ176511;GQ176525;GQ176529;GQ176531;GQ176532;GQ176533;GQ176534;GQ176536;GQ176538;GQ176542;GQ176543;GQ176545;GQ176546;GQ176547;GQ176548;GQ176550;GQ176551;GQ176552;GQ176554;GQ176556;GQ176559;GQ176560;GQ176563;GQ176565;GQ176566;GQ176567;GQ176570;GQ176574;GQ176576;GQ176577;GQ176578;GQ176579;GQ176580;GQ176582;GQ176587;GQ176589;GQ176592;GQ176609;GQ176616;GQ176618;GQ176621;GQ176622;GQ176624;GQ176626;GQ176627;GQ176628;GQ176630;GQ176631;GQ176632;GQ176633;GQ176636;GQ176639;GQ176644;GQ176656;GQ176658;GQ176660;GQ176662;GQ176664;GQ176665;GQ176667;GQ176674;GQ176675;GQ176677;GQ176678;GQ176679;GQ176680;GQ176681;GQ176682;GQ176683;GQ176684;GQ176685;GQ176687;GQ176688;GQ176689;GQ176690;GQ176691;GQ176692;GQ176693;GQ176694;GQ176695;GQ176696;GQ176697;GQ176700;GQ176701;GQ176702;GQ176703;GQ176712;GQ176714;GQ176715;GQ176716;GQ176718;GQ176719;GQ176720;GQ176721;GQ176722;GQ176723;GQ176724;GQ176725;GQ176726;GQ176727;GQ176728;GQ176737;GQ176740;GQ176741;GQ176743;GQ176744;GQ176746;GQ176748;GQ176749;GQ176750;GQ176753;GQ176754;GQ176755;GQ176756;GQ176757;GQ176758;GQ176759;GQ176760;GQ176761;GQ176763;GQ176766;GQ176767;GQ176769;GQ176770;GQ176771;GQ176772;GQ176773;GQ176774;GQ176776;GQ176778;GQ176779;GQ176780;GQ176781;GQ176782;GQ176784;GQ176785;GQ176786;GQ176787;GQ176789;GQ176790;GQ176793;GQ176805;GQ176807;GQ176809;GQ176810;GQ176811;GQ176812;GQ176813;GQ176814;GQ176815;GQ176817;GQ176818;GQ176819;GQ176820;GQ176821;GQ176823;GQ176828;GQ176832;GQ176833;GQ176835;GQ176836;GQ176837;HI179016;HI179018;NG_008198;NM_001127696;NM_001127697;NM_001164774;NM_001164776;NM_001164777;NM_001164778;NM_001164779;NM_001164780;NM_001164781;NM_001164782;NM_004993;NM_030660;NR_028453;NR_028454;NR_028455;NR_028456;NR_028457;NR_028458;NR_028459;NR_028460;NR_028461;NR_028462;NR_028463;NR_028464;NR_028465;NR_028466;NR_028467;NR_028468;NR_028469;NR_028470;NR_031765;S75313;U64820;U64821;U64822 AAB33571;AAB63352;AAB63353;AAB63354;AAH33711;AAH95402;ABM82208;ABS29269;ABW03377;ADD00637;ADD00638;ADD00639;ADD00642;ADD00643;ADD00644;ADD00645;ADD00646;ADD00647;ADD00648;ADD00649;ADD00650;ADD00651;ADD00652;ADD00653;ADD00654;ADD00655;ADD00656;ADD00659;ADD00662;ADD00663;ADD00668;ADD00669;ADD00670;ADD00671;ADD00672;ADD00675;ADD00676;ADD00677;ADD00678;ADD00679;ADD00680;ADD00681;ADD00682;ADD00684;ADD00685;ADD00686;ADD00688;ADD00690;ADD00691;ADD00692;ADD00693;ADD00694;ADD00699;ADD00703;ADD00704;ADD00706;ADD00707;ADD00709;ADD00710;ADD00711;ADD00712;ADD00714;ADD00715;ADD00718;ADD00721;ADD00722;ADD00724;ADD00728;ADD00729;ADD00730;ADD00731;ADD00732;ADD00733;ADD00734;ADD00736;ADD00737;ADD00738;ADD00739;ADD00740;ADD00741;ADD00744;ADD00745;ADD00746;ADD00750;ADD00751;ADD00752;ADD00753;ADD00754;ADD00755;ADD00756;ADD00757;ADD00759;ADD00760;ADD00762;ADD00764;ADD00765;ADD00766;ADD00767;ADD00768;ADD00769;ADD00770;ADD00771;ADD00772;ADD00774;ADD00775;ADD00776;ADD00777;ADD00778;ADD00779;ADD00780;ADD00782;ADD00783;ADD00784;ADD00785;ADD00786;ADD00787;ADD00788;ADD00789;ADD00792;ADD00797;ADD00800;ADD00801;ADD00802;ADD00803;ADD00804;ADD00805;ADD00809;ADD00810;ADD00811;BAB18798;BAB55645;BAB55646;BAD92546;CBX53817;CBX53818;EAW81471;EAW81472;EAW81473;EAW81474;EAW81475;NP_001121168;NP_001121169;NP_001158246;NP_001158248;NP_001158249;NP_001158250;NP_001158251;NP_001158252;NP_001158253;NP_001158254;NP_004984;NP_109376;P54252 Hs.532632 1698424;1739631;1788646;2107871;2110103;2121038;2133108;2142492;2142539;2163762;5016596;5016598;5020635;5020740;5020948;5021369;5037552;5095802;5109281 ATXN3_8472;D14S1196;D14S891E;D14S968;D1S1425;D7S3207;D8S2279;G35435;G35510;G35728;G64288;GDB:631802;L17796;L17809;MJD_SNP1;RH102757;RH18151;RH66122;RH69604 AT3;ATX3;JOS;MJD;MJD1;SCA3 Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3);Machado-Joseph disease protein 1;OTTHUMP00000221583;OTTHUMP00000221584;OTTHUMP00000221585;OTTHUMP00000221586;OTTHUMP00000221587;OTTHUMP00000231995;OTTHUMP00000231997;OTTHUMP00000245314;OTTHUMP00000245315;OTTHUMP00000245317;OTTHUMP00000245320;OTTHUMP00000245325;OTTHUMP00000245332;ataxin 3 variant h;ataxin 3 variant m;ataxin 3 variant ref;ataxin-3;josephin;olivopontocerebellar ataxia 3;spinocerebellar ataxia type 3 protein APPROVED protein-coding ENSG00000066427 7106 06131 109150;607047 REVIEWED 2816966 ATXN7L3B ataxin 7-like 3B 12 12 12 q21 74598676 74602356 + 73217818 73221499 + 74931551 74935232 + 6480464 12477932;14702039;16344560;19615732 552889 Q96GX2 ABBA01026479;AC025257;AK056642;AK095526;AL713650;AMYH01004586;BC009111;BX647460;CH471054;CX868912;DA298752;NM_001136262 AAH09111;EAW97284;NP_001129734;Q96GX2 Hs.213541 1653672;1665781;1772599;2172500 1798;D12S1191E;D12S1415;IB3090 FLJ32080;MGC17296 OTTHUMP00000225428;ataxin 7-like 3B;putative ataxin-7-like protein 3B protein-coding ENSG00000253719 37931 VALIDATED 1345348 ATXN7L4 ataxin 7-like 4 7 q22.2 105188055 105304264 - 6480464 15489334;15115762;14702039;12690205;12477932 222255 A4D0Q2;Q8N2T0;Q9BTQ8;Q9ULK2 AC005099;AC007030;AK095475;BC030616;CH236947;CH471070;NM_152749 AAH30616;EAL24404;EAL24405;EAW83370;EAW83371;EAW83372;EAW83373;EAW83374;NP_689962;Q8N2T0;Q9BTQ8 Hs.489603 MGC33190 protein-coding 28481 12508 1342958 ATXN7L3 ataxin 7-like 3 17 17 17 q21.31 38977906 38984265 - 39624699 39631055 - 42269173 42275529 - 6480464 15115762;18206972;15489334;14702039;12477932;16713569;19615732;19843541;20634802;16751776;21746879;23382074 56970 K7EJK2;K7EKG9;K7EMZ3;K7ENU1;K7ENZ2;Q14CW9 ABBA01028383;AC004596;AK056002;AK074344;AK126117;AK296689;AL390158;AMYH01008412;AMYH01008413;BC024695;BC037418;BC064932;BC100295;BC113595;BC126113;CH471178;DQ588490;NM_001098833;NM_020218 AAH37418;AAI13596;AAI26114;ADR82942;BAB71070;BAG59283;CAB99093;EAW51622;NP_001092303;NP_064603;Q14CW9 Hs.512651 1791254;2140699;2140701;2172594;2191573;2191769 A005Q19;G20416;MARC_26625-26626:1034086788:1;MARC_7251-7252:996687693:1;MARC_8253-8254:996688461:1;RH16013 DKFZp761G2113 SAGA-associated factor 11 homolog;ataxin-7-like protein 3 protein-coding ENSG00000087152 25416 VALIDATED 1601974 AUNIP aurora kinase A and ninein interacting protein 1 1 1 p36.11 24556593 24581939 - 26033084 26058435 - 26160497 26185848 - 6480464 14702039;12477932;20596670;8125298;19322201 79000 Q9H7T9 ABBA01034887;AK024326;AK223419;AL020996;AL033528;AMYH01000394;BC000209;CH471059;GQ844687;NM_024037 AAH00209;ACV90488;ADZ15753;BAB14886;BAD97139;EAX07863;NP_076942;Q9H7T9 Hs.725400 1692164;1716451;1849307;2107369 AL033716;MGC2603__7694;RH121405;SHGC-74421 AIBP;C1orf135;FLJ14264;MGC2603 OTTHUMP00000008503;aurora A-binding protein;aurora kinase A and ninein-interacting protein;uncharacterized protein C1orf135 APPROVED protein-coding ENSG00000127423 28363 08323 PROVISIONAL 1352749 AURKAPS2 aurora kinase A pseudogene 2 10 10 10 q25.3 109734927 109736124 + 115995749 115996946 + 116005759 116006956 + 386665 ABBA01062982;AC005383;AMYH01003086;NG_003111 STK6LP pseudo 18612 INFERRED 1351049 AURKBPS1 aurora kinase B pseudogene 1 8 8 q23.1 109212456 109223136 - 109143190 109144422 - 359937;644233 ABBA01037703;AMYH01018956;AP001331;NG_022401 AurBps1 pseudo 18613 INFERRED 1314501 AUH AU RNA binding protein/enoyl-CoA hydratase The methylglutaconyl-CoA hydratase, mitochondrial protein binds to the AU-rich element (ARE), a common element found in the 3' UTR of rapidly decaying mRNA such as c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. AUH is also homologous to enol-CoA hydratase, an enzyme involved in fatty acid degradation, and has been shown to have intrinsic hydratase enzymatic activity. AUH is thus a bifunctional chimera between RNA binding and metabolic enzyme activity. A possible subcellular localization in the mitochondria has been demonstrated for the mouse homolog of this protein which shares 92% identity with the human protein. It has been suggested that AUH may have a novel role as a mitochondrial located AU-binding protein. Human AUH is expressed as a single mRNA species of 1.8 kb, and translated as a 40-kDa precursor protein which is subsequently processed to a 32-kDa mature form. [provided by RefSeq, May 2010] 9 9 q22.31 93015926 93163996 - 93976097 94124206 - 1599425;1580863;6480464;6907045;7240710 12434311 7892223;18978678;18831052;16640564;16381901;16344560;15489336;15489334;15033206;12655555;12477932;11738050;11076863;10072761;9108262;21150874;20877624;21840233;21963094 549 B4DYI6;Q13825 ABBA01012850;ABBA01012851;ABBA01012852;ABBA01012853;AK302453;AL158071;AL353645;AL513353;AMYH01021504;AV751432;BC020722;BG706374;CH471089;DA724873;NG_008017;NM_001698;X79888 AAH20722;ABM82962;ABM86153;BAG63748;CAA56260;CAL38298;EAW62794;EAW62795;NP_001689;Q13825 Hs.175905 1650091;1658425;1706330;1707238;1714679;1718775;1769730;5022450;5022578 D10S275;D1S1423;D9S2075;D9S787;RH120004;RH123078;SHGC-31547;SHGC-79213;SHGC-80730 3-methylglutaconyl-CoA hydratase;AU RNA binding protein/enoyl-Coenzyme A hydratase;AU RNA-binding protein/enoyl-Coenzyme A hydratase;AU-binding protein/Enoyl-CoA hydratase;AU-specific RNA-binding enoyl-CoA hydratase;OTTHUMP00000021631;OTTHUMP00000021632;methylglutaconyl-CoA hydratase, mitochondrial APPROVED protein-coding ENSG00000148090 890 08987 250950;600529 REVIEWED 1350656 AUTS1 autism susceptibility 1 9546821 8311 892 1602731 AUP1 ancient ubiquitous protein 1 This gene encodes a protein that contains a domain with homology to the ancient conserved region of the archain 1 gene and a domain that may be involved in binding ubiquitin-conjugating enzymes. The protein encoded by this gene has been shown to bind to the conserved membrane-proximal sequence of the cytoplasmic tail of integrin alpha(IIb) subunits. These subunits play a crucial role in the integrin alpha(IIb)beta(3) inside-out signalling in platelets and megakaryocytes that leads to platelet aggregation and thrombus formation. This gene overlaps the gene for mitochondrial serine protease 25. [provided by RefSeq, Jul 2008] 2 2 2 p13 74584883 74588082 - 74607283 74610482 - 74753775 74756974 - 6480464 17353931;18029348;15489334;14702039;12534238;12534237;12477932;12042322;11042152;8812468;20562859;21127063;22990118;16196087;18711132;20435896;18781797;21139048;21857022;21890473;21906983;21987572;23464991;15231748;21963094;23000965;23223569;23246001;17725712;23197321;22053931;22505724;22797925 550 Q9Y679 ABBA01075602;AC005041;AF100746;AF100753;AF100754;AF165515;AI206563;AK023983;AK055566;AK293121;AK301398;AK304886;AK308231;AK310159;AMYH01010454;BC001658;BC033646;CH471053;CR749661;CR999537;NG_012163;NG_033037;NM_181575 AAD43010;AAD43017;AAD43018;AAF86645;AAH01658;AAH33646;ACE86627;ACE87308;BAB14753;BAF85810;BAG62933;BAG65623;CAH18454;EAW99622;EAW99623;EAW99624;EAW99625;NP_853553;Q9Y679 Hs.411480 1734746;1734814;2171782;2189429 D2S1537E;D2S1577E;MARC_5801-5802:991939731:1;WI-19737 OTTHUMP00000160424;OTTHUMP00000202724;ancient ubiquitous protein 1 APPROVED protein-coding ENSG00000115307 891 03892 602434 REVIEWED 1350150 AURKAPS1 aurora kinase A pseudogene 1 1 1 1 q41 193658730 193660266 - 218506144 218507680 - 220439521 220441057 - 12477932;9605851 6791 ABBA01048081;AL445435;AMYH01001742;BC050630;NG_015837;NR_001587 Hs.654849;Hs.744357 2177179 SHGC-53807 AurAps1;STK6P serine/threonine kinase 6 pseudogene APPROVED pseudo 18611 VALIDATED 1343852 AURKC aurora kinase C This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 19 19 q13.43 62434189 62438728 + 57742377 57746916 + 1580863;6480464 15057824;10066797;19147683;18309533;17637569;17435757;16258285;15938719;15917996;15670791;15499654;15316025;14671302;12884918;12477932;9809744;9799611;22087225;14602875;19649632;19713763;20508983;20629650;21531210;21710690;22046298;22990118;19774610;19953087;20663916;21733974;21906983;21493633;21353399;22318606;21890473;21963094;21987572;21988832;22939624;23292864;22888167;23581231;22505724 6795 B4DXA6;M0QX60;M0QYK8;Q5Y191;Q9UQB9 AB017332;ABBA01020814;ABBA01020815;AC005261;AF054621;AF059681;AMYH01010027;AY421575;AY661554;AY714054;BC075064;BX092186;CH471135;NG_012134;NM_001015878;NM_001015879;NM_003160 AAC25955;AAC77369;AAH75064;AAT64422;AAU04399;BAA76292;EAW72485;EAW72486;NP_001015878;NP_001015879;NP_003151;Q9UQB9 Hs.98338 1688257;1797188;5017661 AURKC;RH93146;STK13 AIE2;AIK3;ARK3;AurC;SPGF5;STK13;aurora-C ARK-3;aurora 3;aurora kinase C;aurora-related kinase 3;aurora/IPL1-related kinase 3;aurora/IPL1/EG2 protein 2;serine/threonine kinase 13 (aurora/IPL1-like);serine/threonine-protein kinase 13;serine/threonine-protein kinase aurora-C APPROVED protein-coding ENSG00000105146 11391 04605 603495 REVIEWED 1353168 AURKA aurora kinase A The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 q13 54377852 54400758 - 54944445 54967351 - 1580863;1643348;1643346;2293872;2293871;2293873;2293874;2293877;2293884;2293878;2293883;6480464;7240710 14693746;17349527;18314619;18485461;17599395;17465238;16707419;15466974;16311121;15754349 19799648;20713353;12244051;15987997;9153231;15504738;19487276;9605851;9514916;9174055;18592005;15064709;17353931;18667445;18663358;18663142;18641684;18628459;18615013;18566290;18562694;18469155;18466087;18431743;18391981;18372918;18361916;18361427;18353975;18321990;18311783;18284933;18043979;18027856;18019715;17974987;17957726;17935280;17926144;17925329;17914111;17909067;17908995;17898866;17851643;17850717;17786310;17705509;17686574;17673924;17634535;17634533;17634283;17627006;18669163;19440020;19435814;19412426;19357306;19306133;19232520;19197335;19157502;19124506;19111882;19074838;19060929;19059698;19028417;19001879;18931650;18854777;18823025;18815537;18812553;18803637;18802780;18790738;18776222;18773538;18708766;18707550;18676680;17604723;17591802;17563743;17505013;17488622;17457043;17452972;17438137;17433255;17390048;17333265;17229885;17219423;17143471;17125279;17120309;17113223;17102620;17060449;17060341;17018785;17003782;16951231;16912073;16894566;16890155;16860930;16849685;16772293;16767676;16574658;16572587;16412566;16411056;16381901;16377583;16337122;16332542;16158051;16082213;16080195;16049965;16011022;15966895;15944763;15880741;15867347;15860351;15839305;15802297;15793587;15749021;15688402;15598762;15592510;15536123;15534106;15489336;15489334;15469940;15289843;15271856;15271853;15190214;15173575;15147269;15128871;15087379;15078988;15041727;14990569;14744757;14692019;14667408;14603251;14580337;13678582;13678575;12927815;12883693;12881723;12833450;12716366;12693093;12684414;12631597;12559175;12490715;12477932;12467573;12354758;12237287;12198151;12177045;11976319;11903063;11847097;11790771;11784863;11780052;11551964;11413462;11256614;11076863;11039908;10377410;9771714;21584819;22222631;22302096;22396649;21472690;21198377;21247708;22011530;22246202;22318606;22492986;14602875;17441355;17441356;18390187;18434591;18662907;19170196;19204928;19351716;19494039;19550118;19551141;19564927;20629650;21052088;17940067;21147853;19616898;19625176;19648887;19649632;19652203;19671766;19672706;19690970;19692168;19696028;19738056;19801554;19812038;19821797;19822419;19874801;19891769;19901077;19954064;20002563;20003375;20043089;20160025;20182874;20182906;20368716;20373286;20379614;20453000;20464476;20460379;14600264;20854072;20865660;21059223;20382844;20168084;20444701;20459534;16712791;20593995;20603326;22207630;22621899;14702041;21097701;20682043;20819778;20922573;21050672;21045147;20708655;21099343;21187329;20371132;21410931;20732714;20929925;21598251;21774789;21820309;21479365;21705324;21072059;11050385;21300005;23204235;21832049;22939629;20598352;21470402;21600873;21731694;21617231;21821029;21840910;22240781;21761347;19774610;21441901;21589936;21670214;23255113;23273898;23695679;23829974;21116854;21874044;21829699;21890637;22340593;21554500;21590355;20360068;21163064;21718475;21761334;20960027;22016509;22116466;22305495;22451695;23151618;23547029;21139048;21906983;22094468;21412660;21822051;22262852;21347367;21978935;21986944;22214762;22306998;20585902;21623171;20189840;22320980;22483753;22894933;22463590;22213102;22513362;19117984;22110403;22350409;23219753;23319376;23092930;21890473;21963094;21987572;22014574;22323290;22588468;23037716;23047430;23610398;23649807;22899799;22940834;23026799;23317189;23455922;22505724;22522455;22753416;17939994;23114921;23539442;22864622;23201157;22809428 6790 A3KFJ0;A3KFJ1;A3KFJ2;O14965;Q5QPD1;Q5QPD2;Q5QPD4 ABBA01052891;AF008551;AF011467;AF011468;AF195947;AK301769;AK312776;AL121914;AL711075;AMYH01012005;BC001280;BC002499;BC006423;BC027464;BF029182;BM458030;BQ435059;BU171303;BU542363;CB113289;CB138172;CH471077;D84212;NG_012133;NM_003600;NM_198433;NM_198434;NM_198435;NM_198436;NM_198437 AAC12708;AAC23448;AAC63902;AAF29508;AAH01280;AAH02499;AAH06423;AAH27464;ABM82196;ABM85384;BAA23592;BAG35640;BAG63228;CAL37826;EAW75550;EAW75551;EAW75552;EAW75553;EAW75554;EAW75555;EAW75556;EAW75557;EAW75558;EAW75559;EAW75560;EAW75561;EAW75562;NP_003591;NP_940835;NP_940836;NP_940837;NP_940838;NP_940839;O14965 Hs.250822 1677478;1776446;2177179;5022578 D1S1423;RH12027;RH80570;SHGC-53807 AIK;ARK1;AURA;AURORA2;BTAK;MGC34538;PPP1R47;STK15;STK6;STK7 ARK-1;Aurora-A kinase;IPL1-related kinase;OTTHUMP00000031340;OTTHUMP00000031341;OTTHUMP00000031342;OTTHUMP00000031343;OTTHUMP00000031344;OTTHUMP00000031345;OTTHUMP00000166071;OTTHUMP00000166072;aurora 2;aurora kinase A;aurora-related kinase 1;aurora/IPL1-like kinase;aurora/IPL1-related kinase 1;breast tumor-amplified kinase;breast-tumor-amplified kinase;hARK1;protein phosphatase 1, regulatory subunit 47;serine/threonine kinase 6;serine/threonine protein kinase 15;serine/threonine-protein kinase 15;serine/threonine-protein kinase 6;serine/threonine-protein kinase aurora-A APPROVED protein-coding ENSG00000087586 11393 04066;04352 114500;603072 REVIEWED 1606265 AURKAIP1 aurora kinase A interacting protein 1 1 1 1 p36.33 1271320 1273028 + 1298973 1300443 - 1309110 1310818 - 6480464 18391981;12244051;19221504;18521620;17957726;17452972;16710414;16341674;15489334;15342556;15271856;14702039;13678582;12477932;8681137;21145461;21319273;17207965;18029348;20877624;21932983;21890473;22356826;22318606 54998 Q6PI41;Q9NWT8 ABBA01016037;AC026283;AJ573456;AK000615;AL139287;AMYH01000132;AW576100;BC022808;BC035595;BC046345;BC062333;BE903314;BF664406;BG764236;BM781908;BP198074;CH471183;DN994953;F31434;NM_001127229;NM_001127230;NM_017900 AAH22808;AAH46345;AAH62333;ADQ32127;BAA91289;EAW56218;EAW56219;NP_001120701;NP_001120702;NP_060370;Q9NWT8 Hs.632515 2131427 RH41935 AIP;AKIP;FLJ20608 AURKA-interacting protein;OTTHUMP00000001518;OTTHUMP00000003014;OTTHUMP00000003015;OTTHUMP00000003016;aurora kinase A-interacting protein;aurora-A kinase interacting protein protein-coding ENSG00000175756 24114 16457 609183 VALIDATED 1320604 AUTS2 autism susceptibility candidate 2 7 7 q11.22 68702255 69895790 + 69063905 70257885 + 1580863;6480464 18029348;19240061;19086053;12853948;12690205;12601173;12477932;12168954;12160723;9455477;8889548;22325352;22610502;21471458;19546859;19567891;20379614;20398908;19913121;20628086;20635338;22578776;22995765;23437340;23455922;23332918;22693459;23349641;22925353;23251661;23382691 26053 H7BZZ9;H7C090;H7C0G5;H7C1G5;H7C2P0;L7QF75;Q86WD8;Q8WXX7 AACC02000045;AB007902;ABBA01064033;ABBA01064034;ABBA01064035;ABBA01064036;ABBA01064037;ABBA01064038;ABBA01064039;ABBA01064040;ABBA01064041;ABBA01064042;ABBA01064043;ABBA01064044;ABBA01064045;ABBA01064046;AC004773;AC004881;AC004927;AC006012;AC006317;AC006318;AC006319;AC006361;AC073148;AC073873;AC093487;AC093679;AC093685;AF326917;AK025298;AK296981;AMYH01017512;AMYH01017513;AMYH01017514;AMYH01017515;AMYH01017516;AMYH01017517;AMYH01017518;AMYH01017519;AY211931;BC011643;BC064693;BU608023;CH236952;CH471140;HI574242;JQ670866;NM_001127231;NM_001127232;NM_015570 AAH11643;AAH64693;AAL37411;AAO65184;AAS00369;AAS00371;AAS02044;AAS07446;AAS07468;AAS07486;AFY24235;BAA23714;BAG59522;CBX47610;EAL23968;EAX07895;EAX07896;NP_001120703;NP_001120704;NP_056385;Q8WXX7 Hs.21631;Hs.712991 1336515;1336662;1342116;1646950;1649319;1651181;1654349;1661229;1672416;1674886;1684670;1696132;1707486;1711002;1714441;1714827;1716811;1718965;1724677;1739103;1753237;1759697;1770455;1772016;1775583;1786298;1849396;1851743;1853711;1854500;1854615;1856665;2110277;2115722;2117817;2118330;2120141;2127509;2129076;2130061;2136507;2137254;2138151;2139485;2141411;2161745;2167275;2168901;2170296;2171776;2173531;2174412;2177981;2181344;2186774;2186965;7184449;7186545;7186830 1164;1590;AUTS2__4408;D7S1387;D7S1677;D7S1832;D7S1997;D7S2099E;D7S2261;D7S2385E;D7S2435;D7S2500;D7S2798;D7S2803;D7S645;D7S726;D7S769;GDB:1317394;GDB:1317414;GDB:1317678;GDB:1317778;GDB:1317898;GDB:1317946;GDB:1318665;GDB:3754301;GDB:3754413;GDB:4584965;GDB:4585286;GDB:4585349;GDB:4585587;GDB:4585727;RH120213;RH120408;RH121342;RH121701;RH123190;RH35891;RH36141;RH36552;RH48631;RH66649;RH68955;RH91774;SHGC-110082;SHGC-151009;SHGC-153479;SHGC-34763;SHGC-56083;SHGC-56084;SHGC-79069;SHGC-84538;SHGC-84879;STS-AA019937;STS-H09325;WI-11330;WI-21487 FBRSL2;KIAA0442;MGC13140 OTTHUMP00000160177;OTTHUMP00000210180;OTTHUMP00000210286;autism susceptibility gene 2 protein;autism susceptibility protein 2 long isoform;autism-related protein 1 protein-coding ENSG00000158321 14262 06276 607270 VALIDATED 731309 AURKB aurora kinase B This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] 17 17 p13.1 8048774 8054608 - 8108049 8113944 - 1580863;2293878;2293877;6480464 16311121;16707419 12689593;16291752;19342897;19287963;19225156;19203582;19188929;19157502;19150808;19134008;19074885;19074838;19059698;18974773;18767990;18728397;18716057;18710370;18708766;18640974;18628459;18602486;18563336;18477699;18463638;18301241;18201571;17726378;17686574;17617734;17558394;17488622;17457057;17356064;17235564;17215513;17164288;17094487;17084365;17001311;16980585;16916643;16912073;16764853;16762323;16572587;16565220;16222316;16222244;16179389;16179162;16171786;16046481;15993841;15923616;15922328;15917996;15699543;15597762;15562011;15509656;15499654;15489334;15280424;15263015;15249581;15130946;15072448;15064709;15033491;14767480;14722118;14674694;14610074;14602875;12925766;12686604;22311150;22222631;12477932;12466558;12419797;12082625;11976319;11856369;11784863;11756469;11516652;11471245;11413462;9931403;9858806;9809983;9514916;19176389;17322402;15260989;17543862;20593489;22087225;22801782;22267324;19778810;19357306;20548097;20622363;20643881;20605920;20629650;20889715;20430883;19951914;20354862;20705812;20562864;20451386;20629633;20651058;20799978;20171103;20864540;20865660;10949293;14744859;15761153;16169070;17274640;17681274;17956729;18195732;18591255;19189202;19218110;19465021;19468067;19494039;19596781;19626681;19649632;19696028;19704020;19786723;19823168;19838728;19887622;19995937;20007324;20112500;20157117;20177074;20182906;20231380;20368716;20467329;20471944;20508983;18773538;18946085;20619651;20937697;20959462;21222513;20732714;21397507;21397845;11050385;20372054;20371132;21057000;21832049;22688343;22751009;23100464;21658950;21723127;21820309;21299608;16103226;21470402;21587233;21143115;20360068;21148584;22990868;19774610;21486945;21554500;21646403;22318606;15316025;22724069;23455922;22159225;16239925;17099693;20856855;21633354;22024163;21775627;21116854;21844210;21874044;21852114;20960027;22371557;22024481;22099307;20639865;20663916;21987572;21786106;22940834;23226345;23712260;23829974;21822051;22011448;22972986;21139048;21890473;21906983;21840910;20231385;22422861;22449725;22611192;22463590;22843098;22865920;21963094;21988832;22939624;23000965;23092930;18243099;23569217;23562843;22767597;18542055;22350409;22722494;22870391;23114921;20929775;21875947;22505724;16571674;23095493;23370391;22809428 9212 J3KRF8;J3KRJ2;J3KT86;J3KTD6;J3QLN8;J3QR41;J9JID1;O95083 AB011446;AB011450;AB519677;AB519678;AB519679;ABBA01054902;ABBA01054903;AC135178;AF004022;AF008552;AF015254;AK297976;AK314889;AMYH01008088;AY677083;BC000442;BC009751;BC013300;BC080581;BT019534;CH471108;NM_001256834;NM_004217 AAB65786;AAC12709;AAC98891;AAH00442;AAH09751;AAH13300;AAH80581;AAV38341;BAA32136;BAA82709;BAG37403;BAG60286;BAI23190;BAI23191;BAI23192;EAW90073;EAW90074;EAW90075;EAW90076;EAW90077;EAW90078;EAW90079;NP_001243763;NP_004208;Q96GD4 Hs.442658 1643852;2144829 RH17506;SGC34636 AIK2;AIM-1;AIM1;ARK2;AurB;IPL1;PPP1R48;STK12;STK5;aurkb-sv1;aurkb-sv2 ARK-2;OTTHUMP00000135331;STK-1;aurora 1;aurora kinase B;aurora kinase B-Sv1;aurora kinase B-Sv2;aurora- and Ipl1-like midbody-associated protein 1;aurora-1;aurora-B;aurora-related kinase 2;aurora/IPL1-related kinase 2;protein phosphatase 1, regulatory subunit 48;serine/threonine kinase 12;serine/threonine-protein kinase 12;serine/threonine-protein kinase 5;serine/threonine-protein kinase aurora-B APPROVED protein-coding ENSG00000178999 11390 05397 604970 VALIDATED 731808 AVIL advillin The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008] 12 12 12 q14.1 57849081 57867775 - 56477710 56496119 - 58191159 58209852 - 1580863;6480464 9664034;18022635;15096633;14702039;12477932;12034507;11287316;22318606 10677 F8VNY0;F8VVU1;O75366 ABBA01026693;AC025165;AF041449;AK022448;AK314362;AMYH01004525;BC111730;BX647344;CH471054;NM_006576 AAC25051;AAI11731;BAG36994;EAW97079;EAW97080;NP_006567;O75366 Hs.584854 1687041;1736248;1777935;2147698;2147700;2148829;2150656;2166322;2184523;5015861;5109281;7185938 A005K05;A006V17;D10S16;D12S1197E;D1S1425;G20278;RH45892;RH65542;RH77844;RH80377;WI-13965 ADVIL;DKFZp779O1812;DOC6;FLJ12386;MGC133244;p92 OTTHUMP00000243877;advillin;pervin APPROVED protein-coding ENSG00000135407 14188 09816 613397 REVIEWED 619562 AVPR1B arginine vasopressin receptor 1B The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. [provided by RefSeq, Jul 2008] 1 1 q32 204390567 204398262 + 206224283 206231482 + 1579891;1580863;1300290;61542;2312649;6480464 14624682;12399951;7624319;19047484 10858434;7805841;7929452;18384079;17909131;17318384;16710414;15528211;15094789;12736162;12436935;11884209;10607899;10477084;9581826;9357056;8636444;8586456;22341483;16754659;18240029;19598235;19668115;19874574;20351714;20368512;20472303;18577758 553 P47901 ABBA01001843;ABBA01001844;AC244035;AF030512;AF101726;AF152238;AMYH01001676;BX571818;CH471067;D31833;DQ194816;DY317849;EU432111;L37112;NM_000707 AAA65687;AAB84293;AAD17892;AAF33681;AAI56079;AAI57127;ABA03171;ABY87910;BAA06621;EAW91596;EAW91597;NP_000698;P47901 Hs.1372 AVPR3 AVPR V1b;AVPR V3;OTTHUMP00000034344;V1bR;antidiuretic hormone receptor 1B;arginine vasopressin receptor 3;pituitary vasopressin receptor 3;vasopressin V1b receptor;vasopressin V3 receptor APPROVED protein-coding 896 02600 600264 REVIEWED 1349822 AVSD1 atrioventricular septal defect 1 7240710 9002679 7446 1339067;1339494;2158942 D1S1587;D1S3471;D1S406 12721 1320536 AVEN apoptosis, caspase activation inhibitor 15 15 15 q13.1 10960950 11134340 - 31945720 32118595 - 34158428 34331303 - 1580863;6480464 10949025;19096130;18996102;18571408;18303113;16388850;15761153;15489334;15345747;12477932;20030919;19913121;20602615;20628086;20379614;20800603;20935510;21718987;21906983;22751129;22505724;22388353;23000965 57099 H0YKR0;Q9NQS1 ABBA01038546;ABBA01038547;ABBA01038548;ABBA01038549;AC009268;AC010809;AC069045;AF283508;AK025888;AMYH01006509;BC010488;BC063533;BU855198;CH471125;NM_020371 AAF91470;AAH10488;AAH63533;EAW92281;NP_065104;Q9NQS1 Hs.555966 1670539;1684343;1685447;1698216;1713111;1719093;1761559;1777191;2133234;2140555;2157250 D15S1263;D15S1355;RH102644;RH120343;RH123264;RH48204;RH66717;RH94176;RH98244;SHGC-145553;WI-15231 PDCD12 OTTHUMP00000159733;cell death regulator Aven;programmed cell death 12 protein-coding ENSG00000169857 13509 05588 605265 VALIDATED 1604629 AVL9 AVL9 homolog (S. cerevisiase) 7 7 7 p14.3 32519090 32608957 + 32501701 32590304 + 32535176 32623779 + 6480464 17229886;14702039;12690205;12477932;9039502;21890473;22595670 23080 B8ZZW5;H7C0I1;Q8N6Z3;Q8NBF6 AACC02000087;ABBA01056837;ABBA01056838;ABBA01056839;ABBA01056840;ABBA01056841;ABBA01056842;ABBA01056843;AC018633;AC018641;AK090619;AL833560;AMYH01017156;AMYH01017157;BC027724;CH471073;D87682;NM_015060 AAH27724;BAA13435;BAC03489;CAH10387;EAL24439;EAW93992;EAW93993;EAW93994;EAW93995;EAW93996;EAW93997;NP_055875;Q8NBF6 Hs.128056 1655423;1679427;1735716;1854518;2114685;2132748;2145360;5015961;5024761 D15S1477;D7S1655;D7S1675;D7S2170E;GDB:1318160;RH36905;RH67910;RH92272;WI-15557 DKFZp686G0344;KIAA0241 OTTHUMP00000202740;OTTHUMP00000202741;OTTHUMP00000202742;late secretory pathway protein AVL9 homolog protein-coding 28994 13788 612927 PROVISIONAL 1353971 AVPI1 arginine vasopressin-induced 1 10 10 10 q24.2 93174490 93184285 - 99427171 99436960 - 99437181 99447015 - 6480464 15498874;15489334;15164054;12477932;12356727;9110174;8619474;8125298;16385451;20098747;21832049 60370 Q5T686 ABBA01021791;ABBA01021792;AF131791;AF218019;AF241786;AK024533;AK222493;AK223099;AL355315;AMYH01002978;BC000877;CH471066;NM_021732 AAG17261;AAG44474;AAH00877;ABM82691;ABM85875;BAD96213;BAD96819;EAW49904;EAW49905;NP_068378;Q5T686 Hs.23918 2140089 WI-11858 PP5395;RP11-548K23.7;VIP32;VIT32 AVP-induced protein 1;OTTHUMP00000020225;arginine vasopressin-induced protein 1;vasopressin-induced transcript protein-coding ENSG00000119986 30898 16530 VALIDATED 68968 AVP arginine vasopressin This gene encodes a precursor protein consisting of arginine vasopressin and two associated proteins, neurophysin 2 and a glycopeptide, copeptin. Arginine vasopressin is a posterior pituitary hormone which is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). [provided by RefSeq, Mar 2010] 20 20 p13 3011202 3013370 - 3063202 3065370 - 1579880;734624;1579871;1601243;1580863;1601303;1601304;1601305;1358326;2301917;2301918;2301919;2301924;2304139;2301922;1579891;2303174;2312656;6480464;6907045;7240710 12590641;8945633;12438923;16582573;16497839;15897635;12623976;12942143;18578860;18494865;18420743;18987488;17393298;17940875;14624682;18925713;18431594 21519298;1740104;8794883;19114902;19086053;18807739;18673414;18384079;18316776;18272843;18256370;18172431;18092379;17927668;16333859;15624761;15538939;15489334;15356057;15203290;15070970;14996841;14673472;14660745;14607844;14510916;13591312;12931042;12566732;12519420;12477932;12403649;12364435;12359138;12107248;12012274;11980620;11857925;11836335;11780052;11748489;11713645;11443218;11384615;11161827;11150885;11017955;10677561;10487710;10443701;10369876;9814475;9580132;9467595;9360520;8989232;8626836;8554046;8550751;8514868;8370682;8106369;8103767;8045958;7929452;7921229;7714110;7271787;6574452;6153132;4065330;3768139;3390991;2991279;2874053;2521920;1978246;1968469;1840604;22516290;14579113;16971491;20620528;21834801;18240029;18538351;18995178;19129716;19260089;19337789;19366852;19500216;19564455;19638944;19672816;19821843;19825939;19847155;19897608;20010879;20368512;20439785;20468064;20508186;19945299;20144509;20413521;12036966;21437268;21123762;19942636;21490073;21088058;18402937;22307687;21498630;21915168;21752550;21554881;21106053;21501333;21216019;22921847;19322201;21766239;21960250;21677651;22286033;22245314;22524462;22954353;22644838;22832391;22820037;16274233;17075130;23584859;23589638;23326397;23515451 551 P01185;Q9UMM9 ABBA01053808;AF031475;AF031476;AI478178;AL160414;AMYH01011672;BC018062;BC126196;BC126224;BG715518;CH471133;M11166;M25647;M63733;M63734;NG_008663;NM_000490;X03172;X62890;X62891 AAA61291;AAA69844;AAA98772;AAB86628;AAB86629;AAI26197;AAI26225;CAA26935;CAA44681;CAA44682;EAX10554;NP_000481;P01185 Hs.89648 1684238 RH98810 ADH;ARVP;AVP-NPII;AVRP;VP OTTHUMP00000030089;antidiuretic hormone;arginine vasopressin;arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal);neurohypophyseal;prepro-AVP-NP II;prepro-arginine-vasopressin-neurophysin II;vasopressin-neurophysin 2-copeptin;vasopressin-neurophysin II-copeptin APPROVED protein-coding ENSG00000101200 894 01891 125700;192340 REVIEWED 1346796 AWAT1 acyl-CoA wax alcohol acyltransferase 1 The protein encoded by this gene belongs to the diacylglycerol acyltransferase family. It esterifies long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that this enzyme plays a central role in lipid metabolism in skin. Consistent with this observation, this protein is predominantly expressed in the sebaceous gland of the skin. [provided by RefSeq, Sep 2009] X X X q13.1 69807845 69813851 + 69371271 69376865 + 69454505 69460511 + 6480464 15772651;15671038;14970677;12477932 158833 Q58HT5 ABBA01067544;ABBA01067545;AL357752;AMYH01022525;AY947638;BC039181;BN000155;CH471132;NG_013225;NM_001013579;W68831 AAI46429;AAI53035;AAX48018;CAD89266;EAX05353;NP_001013597;Q58HT5 Hs.407641 1701814;2219076 DGAT2L3__4699;DXS1399 DGA2;DGAT2L3 OTTHUMP00000023471;acyl-CoA wax alcohol acyltransferase 1;diacyl-glycerol acyltransferase 2;diacylglycerol O-acyltransferase 2-like 3;diacylglycerol O-acyltransferase 2-like protein 3;diacylglycerol acyltransferase 2;long-chain-alcohol O-fatty-acyltransferase 1 APPROVED protein-coding ENSG00000204195 23252 10296 REVIEWED 68986 AVPR1A arginine vasopressin receptor 1A The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq, Jul 2008] 12 12 q14-q15 61826483 61832857 - 63536539 63546590 - 734625;1579891;1580863;1358326;2300375;2300333;2300334;2300323;2300348;2300322;2300376;2300319;2300330;2300372;2300337;2300338;6480464 10466725;14624682;12942143;16671476;14647048;12641544;15613739;17347933;15657301;16423716;17653244;15475662;17244947;18508119;18467593 10858434;8106369;8838314;19461995;19195791;19086053;19056558;18765804;18655900;18490926;18384079;17939166;17728669;17696996;17440932;16721832;16565083;16520824;16333859;16205790;15994199;15489334;15098001;14757828;14622255;12869559;12477932;12436935;12082568;10756113;10478574;10477084;9581826;9357056;8344200;8074728;8012384;20413116;16754659;18240029;19350216;19598235;19874574;20142561;20368512;20452058;20468064;20546835;19913121;20628086;18402937;22764113;20889332;21307861;21514569;21747049;21980412;22288734;22384070;22457427;22008661 552 F8VW98;P37288 AA533159;ABBA01026625;AC135584;AF030625;AF101725;AF208541;AMYH01004539;AY322550;BC074803;BC074804;CH471054;DQ177277;L25615;NM_000706;S73899;U19906;Z59305 AAA62271;AAB19232;AAC51861;AAC60638;AAD17891;AAF18470;AAH74803;AAH74804;AAP84363;ABA02557;EAW97115;NP_000697;P37288 Hs.2131 1721543;1774655;2161982;5110819 D12S1901;G59776;RH48734;STS-L25615 AVPR V1a;AVPR1;V1aR AVPR V1a;OTTHUMP00000242555;SCCL vasopressin subtype 1a receptor;V1-vascular vasopressin receptor AVPR1A;V1a vasopressin receptor;V1aR;antidiuretic hormone receptor 1A;vascular/hepatic-type arginine vasopressin receptor;vasopressin V1a receptor APPROVED protein-coding 895 02894 600821 REVIEWED 1345749 AXPC1 ataxia, posterior column 1, with retinitis pigmentosa 7240710 9409377;9921862 559 906 609033 1343191 AZF1 azoospermia factor 1 7240710 560 908 415000 1606441 AWAT2 acyl-CoA wax alcohol acyltransferase 2 This gene encodes an enzyme belonging to the diacylglycerol acyltransferase family. This enzyme produces wax esters by the esterification of long chain (or wax) alcohols with acyl-CoA-derived fatty acids. It functions in lipid metabolism in the skin, mostly in undifferentiated peripheral sebocytes. This enzyme may also have acyl-CoA:retinol acyltransferase activities, where it catalyzes the synthesis of diacylglycerols and retinyl esters. [provided by RefSeq, May 2010] X X X q13.1 69613775 69623166 - 69177117 69186513 - 69260392 69269788 - 6480464;6907045 16106050;15671038;15489334;15220349;14970677;12477932;20374941 158835 H0YAL0;Q6E213 ABBA01067524;AL158141;AMYH01022522;AY605053;BC063698;BN000156;CH471132;NG_021246;NM_001002254 AAH63698;AAI46453;AAI53071;AAT68764;CAD89267;EAX05358;NP_001002254;Q6E213 Hs.661507 1701092;2109235 DGAT2L4__4700;RH104173 ARAT;DC4;DGAT2L4;MFAT;WS OTTHUMP00000217280;acyl-CoA retinol O-fatty-acyltransferase;acyl-CoA wax alcohol acyltransferase 2;diacylglycerol O-acyltransferase 2-like protein 4;diacylglycerol O-acyltransferase candidate 4;long-chain-alcohol O-fatty-acyltransferase 2;multifunctional O-acyltransferase;retinol O-fatty-acyltransferase APPROVED protein-coding ENSG00000147160 23251 16799 REVIEWED 1342951 AZF2 azoospermia factor 2 561 909 730975 AVPR2 arginine vasopressin receptor 2 This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq, Jul 2008] X X q28 152823564 152825834 + 153167985 153172620 + 1579891;1580863;734626;1298694;628560;2314013;2314015;2314019;2314016;2314017;2314018;2312654;2312656;6480464;6907045;7240710 14624682;11091117;12072411;11882591;19816050;18489790;17020465;17941907;17550212;17371330;18971210;18431594 10858434;18578504;8882880;10880054;9224808;1303257;10749568;19449677;19440390;19179480;19094077;19086053;18753429;18726898;18358546;18323675;18288441;18199683;17626156;17389737;17229917;17216256;17101063;16845277;16825342;16580609;16563128;16333859;16267275;16240160;16162341;16115624;15872203;15489334;15452133;15319442;15319430;14757828;12960162;12900404;12482593;12477932;12473660;12436935;12409230;11923476;11916004;11868598;11857925;11754100;11476731;11232028;11026555;10770218;10694923;10561596;10477084;9711877;9581826;9402087;8999963;8735975;8621513;8514744;8479490;8267567;8078903;8045948;8037205;7999078;7987330;7984150;7833930;7560098;2714800;1534150;1534149;1415251;1356229;1324225;1303271;15782186;20403097;20389105;18240029;19170711;19542240;19638944;19703807;19812297;19996159;20159941;20237496;19913121;20628086;12036966;20301356;19217806;20683494;22879391;23604254;18048502;22965914;21575724;21574774;22145481;21917732;19372219;20974815;22144672;22052024;22386940;23236378;22644838;23364801 554 C9JV81;F8WET1;P30518 ABBA01045342;ABBA01045343;ABBA01045344;ABBA01045345;ABBA01045346;ABBA01045347;AF030626;AF032388;AF101727;AF101728;AMYH01023303;AY242131;BC015746;BC033090;BC041642;BC080603;BC101484;BC112181;BG830436;CH471172;FJ411207;L22206;NG_008687;NG_009645;NM_000054;NM_001146151;NR_027419;U04357;U52112;Z11687 AAA03651;AAB86428;AAB87678;AAC09005;AAD16444;AAD16445;AAI01485;AAI12182;AAO92298;ACR39021;CAA77746;EAW72783;EAW72784;EAW72785;NP_000045;NP_001139623;P30518 Hs.567240 1702050;1742845;1743951;1744865;1745481;1745483;1745485;1745487;1745489;1745491;1745493;1745495;1745497;1745499;1745503;1745505;1745507;1745509;1745511;1745513;1745515;1745517;1794474;1801248;1801368;1802534;1802906;1803124;1803260;1803970;1804822;1805584;1805934;1806400;1809558;1812288;1812574;1816456;1817150;1817982;1818872;1819318;1820984;1821048;1821050;1821188;1821592;1821856;1824322;1825200;1825668;1827218;1832980;1835646;1838254;1839594;1843974;1844688;1845140;2033854;2033856;2033858;2033860;2033862;2033864;2033866;2033868;2033870;2033872;2033874;2033876;2033878;2033880;2033882;2033884;2033886;2033888;2033892;2033894;2033896;2033898;2033900;2033902;2033904;2033906;2033908;2033910;2033912;2033914;2033916;2033918;2033920;2033922;2033924;2033926;2033928;2033930;2033942;2033944;2033946;2033948;2033950;2033952;2033954;2033956;2033960;2033962;2033964;2033966;2033968;2033972;2033974;2033976;2033978;2033980;2033982;2033984;2033986;2033988;2033990;2033992;2033994;2033996;2033998;2034000;2034002;2034004;2034006;2034008;2034010;2034012;2034014;2034016;2034018;2034022;2034024;2034026;2034028;2034030;2034032;2034038;2034040;2034042;2034044;2034046;2034048;2034050;2034052;2034054;2034056;2034058;2034060;2034062;2034064;2034066;2034068;2034070;2034072;2034074;2034076;2034080;2034084;2034086;2034088;2034090;2034092;2034096;2034098;2034100;2034102;2034104;2034106;2034108;2034110;2034112;2034118;2034120;2034122;2034124;2034130;2034132;2034134;2034136;2034138;2034148;2034152;2034154;2034156;2034158;2034160;2034162;2034164;2034166;2034168;2034170;2034172;2034174;2034176;2034178;2034180;2034182;2034184;2034186;2034188;2034190;2034192;2034194;2034196;2034198;2034200;2034202;2034204;2034206;2102096;2102098;2116353;2137998 DXS8147;ECD01496;ECD01556;ECD02153;ECD02342;ECD02453;ECD02523;ECD02899;ECD03345;ECD03740;ECD03920;ECD04156;ECD05771;ECD07151;ECD07297;ECD09270;ECD09625;ECD10046;ECD10500;ECD10726;ECD11568;ECD11601;ECD11602;ECD11671;ECD11882;ECD12014;ECD13259;ECD13701;ECD13942;ECD14724;ECD17631;ECD18979;ECD20301;ECD20980;ECD23199;ECD23558;ECD23787;GDB:195164;GDB:210765;GDB:377315;GDB:574063;GDB:618098;GDB:618230;GDB:618289;GDB:618293;GDB:618341;GDB:618400;GDB:618484;GDB:618487;GDB:618831;GDB:618836;GDB:618842;GDB:618846;GDB:618849;GDB:618851;GDB:618866;GDB:619117;GDB:619157;GDB:619161;PMC314363P1;REN87936;REN87937;REN87938;REN87939;REN87940;REN87941;REN87942;REN87943;REN87944;REN87945;REN87946;REN87947;REN87948;REN87949;REN87950;REN87951;REN87952;REN87953;REN87955;REN87956;REN87957;REN87958;REN87959;REN87960;REN87961;REN87962;REN87963;REN87964;REN87965;REN87966;REN87967;REN87968;REN87969;REN87970;REN87971;REN87972;REN87973;REN87974;REN87980;REN87981;REN87982;REN87983;REN87984;REN87985;REN87986;REN87987;REN87989;REN87990;REN87991;REN87992;REN87993;REN87995;REN87996;REN87997;REN87998;REN87999;REN88000;REN88001;REN88002;REN88003;REN88004;REN88005;REN88006;REN88007;REN88008;REN88009;REN88010;REN88011;REN88012;REN88013;REN88014;REN88015;REN88016;REN88017;REN88018;REN88020;REN88021;REN88022;REN88023;REN88024;REN88025;REN88028;REN88029;REN88030;REN88031;REN88032;REN88033;REN88034;REN88035;REN88036;REN88037;REN88038;REN88039;REN88040;REN88041;REN88042;REN88043;REN88044;REN88045;REN88046;REN88047;REN88049;REN88051;REN88052;REN88053;REN88054;REN88055;REN88057;REN88058;REN88059;REN88060;REN88061;REN88062;REN88063;REN88064;REN88065;REN88068;REN88069;REN88070;REN88071;REN88074;REN88075;REN88076;REN88077;REN88078;REN88083;REN88085;REN88086;REN88087;REN88088;REN88089;REN88090;REN88091;REN88092;REN88093;REN88094;REN88095;REN88096;REN88097;REN88098;REN88099;REN88100;REN88101;REN88102;REN88103;REN88104;REN88105;REN88106;REN88107;REN88108;REN88109;REN88110;REN88111;REN88112;RH70970;stSG603678;stSG603679 ADHR;DI1;DIR;DIR3;MGC126533;MGC138386;NDI;V2R AVPR V2;OTTHUMP00000026011;OTTHUMP00000026013;OTTHUMP00000198719;antidiuretic hormone receptor;renal-type arginine vasopressin receptor;vasopressin V2 receptor APPROVED protein-coding ENSG00000126895 897 02368 300538;300539;304800 REVIEWED 1605000 AXDND1 axonemal dynein light chain domain containing 1 1 1 1 q25.2 152443132 152631501 + 177601738 177790493 + 179334855 179523870 + 6480464 19010793;14702039;12477932;19536175;20379614;19913121;20628086 126859 A6H900;B1AM31;D6R9B7;D6RB87;D6RCN1;D6RDY4;D6REE1;F5GWM2;Q5T1B0 ABBA01027812;ABBA01027813;ABBA01027814;AK057502;AK058167;AK093460;AK302972;AL160286;AL451075;AL833914;AMYH01001531;AMYH01001532;BC146823;BX647935;CH471067;NG_033075;NM_144696;NR_073544 AAI46824;BAB71513;BAB71698;BAH13864;CAD38770;CAH10571;EAW91045;EAW91046;EAW91047;EAW91048;NP_653297;Q5T1B0 Hs.658505 1682958;1688554;1751427;1763875;1774132;1792462;1792464;2113654;2149907;2190751;2219196 AB072743;AL009566;D6S1233E;NPHS2__6070;PMC151634P5;PMC151634P6;RH92018;SHGC-105252;SHGC-147545;SHGC-75886;UniSTS:265599 C1orf125;DKFZp686H1423;FLJ25438;FLJ32940;RP11-215I23.2 OTTHUMP00000033197;OTTHUMP00000033198;OTTHUMP00000217214;axonemal dynein light chain domain-containing protein 1;hypothetical protein LOC126859 APPROVED protein-coding ENSG00000162779 26564 08740 VALIDATED 1345717 AZGP1P1 alpha-2-glycoprotein 1, zinc-binding pseudogene 1 7 7 7 q22.1 94312859 94319989 + 99416332 99423256 + 99578385 99581860 + 12477932;10737800;8307568;8241150;22118674 646282 AACC02000084;ABBA01013242;AC004522;AK307369;AMYH01017726;CH236956;NR_036679;X70169;X70170;X70171;X70172 Hs.721816 pseudo ENSG00000214313 911 VALIDATED 736564 AXIN1 axin 1 This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2010] 16 16 p13.3 277441 342465 - 337440 402676 - 1300371;1580863;2293188;6480464;6484113;6907045;7240710 10700176;18432252 18593713;10644691;9230313;9482734;16188939;12072559;11955436;12000790;12820959;15327769;16753179;19331826;19141611;19131971;18708403;18632848;18330950;18171349;17768662;17720811;17418091;17143297;17018282;16868183;16773576;16772034;16601693;16293619;16169070;16163548;15981102;15698401;15616553;15579909;15526030;15520370;15489334;15355978;15262978;15064706;15063782;14970870;14630927;14566817;14534723;12897152;12883680;12805222;12771989;12717450;12556519;12555076;9601641;12554650;12477932;12223491;12209999;12192039;12138115;12101426;12036951;11997515;11884395;11809808;11719457;11557983;11487578;11438668;11336703;11297546;11157797;10829020;10811618;10698523;10581160;10488109;10330403;10228155;9920888;9734785;9335612;9054936;10428961;12511557;17353931;21478859;22524844;21242974;17318175;17510365;17588722;18514389;19249679;19303846;19390532;19453261;19513548;19582507;19633924;19731416;19778269;20098615;20122174;20128690;20379614;17569865;12421363;16199882;17210684;20844743;16890161;20846493;19913121;20628086;21087614;21648318;19038973;19759537;21057547;21769465;21383061;23455922;23671587;23826318;23879168;21799911;21502811;22234612;22613765;20858899;21808024;21902576;22270359;22682247;12417018;20531388;21795712;22509369;22614067;23192643;18762581;23110995;19202075;21988832;22504420;23277359;12584189;22933777 8312 H0Y830;O15169 AB208876;ABBA01030376;ABBA01030377;ABBA01030378;AC004652;AC005202;AE006463;AF009674;AMYH01006989;AMYH01006990;BC017447;BC035872;BC044648;BX648449;CH471112;DB460285;NG_012267;NM_003502;NM_181050;Z69667;Z99754 AAC51624;AAH17447;AAH44648;AAK61224;BAD92113;CAI95589;CAI95590;CAQ09649;EAW85835;EAW85836;NP_003493;NP_851393;O15169 Hs.592082 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AXIN;MGC52315;PPP1R49 OTTHUMP00000067405;OTTHUMP00000067406;axin-1;axis inhibition protein 1;axis inhibitor 1;fused, mouse, homolog of;gsk-3beta interacting protein raxin;hAxin;protein phosphatase 1, regulatory subunit 49 APPROVED protein-coding ENSG00000103126 903 04819 114550;603816;607864 REVIEWED 1349667 AXIN2 axin 2 The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008] 17 17 q23-q24 60955143 60988227 - 63524681 63557740 - 1580863;2293188;1643593;6480464;6907045;7240710 18432252;16488995 10049590;12072559;19270026;19119171;19065536;18755497;18708403;18683894;18676680;18384130;18372914;18330950;17373666;17143297;17072303;17002498;15489334;15042511;12477932;12183362;11940574;11474173;11017067;10966653;10647780;8889548;10021369;15304487;15611123;16941501;16820935;16601693;16432638;16344560;16247484;15766563;22322943;21541676;20300119;19336002;20844743;21069480;20613673;20635389;11438668;17927870;18790474;19170196;19584075;19623616;19625176;19692168;19816326;19888426;20056645;20219685;20403997;20453000;20508983;9566905;19759537;21294210;21383061;23393221;23455922;21706018;21799911;21626677;21733995;21666490;21890473;22370446;20128690;22745173;23169889;22887353 8313 E7ES00;F5GX43;J3QQJ3;J3QRK4;Q9Y2T1 AB052751;ABBA01029043;ABBA01029044;ABBA01029045;AC115994;AF078165;AF205888;AK025718;AK315303;AMYH01008571;BC006295;BC101533;BC143244;BE670767;CB306601;CH471099;CR933657;CX756263;CX759580;DA785881;DA839648;NG_012142;NM_004655 AAD20976;AAF22799;AAH06295;AAI01534;AAI43245;BAB19762;CAI45956;EAW89003;EAW89004;EAW89005;EAW89006;NP_004646;Q9Y2T1 Hs.156527 1783540;2217052 AXIN2_3354;SHGC-153718 AXIL;DKFZp781B0869;MGC10366;MGC126582;ODCRCS axin-2;axin-like protein;axis inhibition protein 2;conductin APPROVED protein-coding ENSG00000168646 904 04935 114500;604025;608615 REVIEWED 1350566 AZGP1P2 alpha-2-glycoprotein 1, zinc-binding pseudogene 2 7 7 7 q22.1 95939923 95942252 - 100717337 100719770 - 100930760 100933089 - 12853948;12477932;8307568;8241150 401393 ABBA01011338;AC006329;AMYH01017751;NG_008494 pseudo 912 INFERRED 1323764 AXL AXL receptor tyrosine kinase The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 19 19 q13.1 46416948 46459511 + 41725108 41767671 + 1579938;1580863;1579881;1579882;2325834;2325833;6480464 15619028;16285961;11290560;10528229;19252414 12470648;18760998;19657094;22489801;1656220;19541935;19055724;18840707;18673450;18620092;18522535;18345028;18172262;17255529;17005688;16831897;16641895;16585512;16556867;16362042;16354588;16344560;15964779;15958209;15733062;15605394;15507525;15130893;14750094;14729616;14565870;12768229;12490074;12477932;12364394;12029073;9492013;9178760;9130617;8621659;8610109;8381225;8247543;7822279;7521695;2247464;1834974;1729376;8939948;23071254;21135257;22516347;20603615;19567592;19633687;19815557;19888345;20080645;20145042;20088931;20637106;21047970;20417630;19913121;20628086;20664904;20442363;20546121;20818175;21068757;21343401;21057535;21076472;21132014;20922806;21842265;21501828;21529875;21317930;21384080;21496277;23523856;21796150;21555911;22318606;22833165;23321254;21987572;22187964;21814748;21139048;21906983;22141136;22156524;21822309;19322201;22751098;22836088;23117882;8889549;21963094;22939624;23000965;23077658;23298489;23361052;22410775;22844123;23629654;23372686;7854420 558 M0R0W6;P30530 AA021223;ABBA01040801;ABBA01040802;ABBA01040803;AC011510;AI300772;AI309979;AK309139;AK310881;AL556721;AMYH01009819;BC032229;CA437238;CH471126;DA478638;HI464132;HI464134;HY045208;M76125;NM_001278599;NM_001699;NM_021913;S65125;X57019;X66029;X66030 AAA61243;AAB20305;AAH32229;ABM85043;CAA40338;CAA46829;CBX54237;CBX54238;EAW57022;EAW57023;NP_001265528;NP_001690;NP_068713;P30530 Hs.590970 1742015;1742017;1857077;2138338;2158132;2158134;2158284;2165877;5014019;5119931;5119933;5119935;5119937;5119959;5493856 Axl;D5S2354;GDB:188778;GDB:188779;GDB:188780;GDB:188781;GDB:188782;GDB:188783;GDB:191076;RH11461;RH36144;SHGC-12719;STS-T15634;STS-T27746;STS-W84423 JTK11;UFO AXL oncogene;AXL transforming sequence/gene;oncogene AXL;tyrosine-protein kinase receptor UFO APPROVED protein-coding ENSG00000167601 905 00171 109135 REVIEWED 1352190 B2MR beta-2-microglobulin regulator 7061176 568 915 109710 735517 AZGP1 alpha-2-glycoprotein 1, zinc-binding 7 7 q22.1 99402286 99411623 - 99564350 99573735 - 6480464 21790656;22425975;10206894;6896906;10462714;9813179;14718574;19188554;18978557;18930737;18663996;18567794;17724461;16740002;16598739;16475792;16335952;15620688;15477100;15340161;15084671;14983038;14760718;13689030;12853948;12690205;12477932;11425849;10737800;10594376;9328826;9239523;9114041;8889548;8307568;8241150;3422450;2049092;1918940;1915885;15862967;21319273;20581862;19351730;19615732;19622624;19846741;19934249;20070991;19549246;16712791;20595026;20683033;16341674;21245862;23272038;21457004;22625427;21443201;21432866;22442679;20360068;21139048;22118674;23393224;22498882;21988832;22935975;21791968;22739111 563 C9JEV0;H7BZJ8;P25311 AA583051;AACC02000084;ABBA01013242;AC004522;AI678968;AMYH01017726;AW015837;BC005306;BC005908;BC014470;BC033830;BM796305;CB148270;CB305376;CH236956;CH471091;D14034;D90427;M76707;NM_001185;X59766;X69953 AAA61311;AAH05306;AAH05908;AAH33830;BAA03123;BAA14417;CAA42438;CAA49574;EAL23862;EAW76621;EAW76622;EAW76623;NP_001176;P25311 Hs.546239 1694988;2143016;2157797 AZGP1;D7S2320;G44707 ZA2G;ZAG Alpha-2-glycoprotein, zinc;OTTHUMP00000024684;OTTHUMP00000210306;Zn-alpha2-glycoprotein;alpha-2-glycoprotein 1, zinc;zinc-alpha-2-glycoprotein;zn-alpha-2-GP;zn-alpha-2-glycoprotein protein-coding ENSG00000160862 910 01910 194460 VALIDATED 1345072 AZU1 azurocidin 1 Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. The protein encoded by this gene is an azurophil granule antibiotic protein, with monocyte chemotactic and antibacterial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, Jul 2008] 19 19 p13.3 778831 783017 + 827831 832017 + 1580863;6480464 11994286;10534120;12465046;10510329;11861296;12678126;1919011;12826073;19151333;18346022;15879141;15489334;15304323;15057824;15020208;14515154;12477932;12438368;12351811;12135665;12054586;11980855;11891183;11170199;10572086;9761855;9095193;8621683;8506327;2501794;2406527;2404977;2332502;2312733;2226832;2049091;2026172;1897955;1755383;1518849;18787642;19590686;20056178;20107486;17207965;20399025;20083497;22207392;18624398;22145905;22278372 566 P20160;Q86SR2 ABBA01002601;AC004799;AMYH01009204;BC044940;BC069495;BC093931;BC093933;CH471139;M96326;NM_001700;X58794 AAB59353;AAH44940;AAH69495;AAH93931;AAH93933;ADQ32951;CAA41601;EAW69592;NP_001691;P20160 Hs.72885 1662123;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;STS-M96326 AZAMP;AZU;CAP37;HBP;HUMAZUR;NAZC azurocidin;cationic antimicrobial protein 37;cationic antimicrobial protein CAP37;heparin-binding protein;neutrophil azurocidin APPROVED protein-coding ENSG00000172232 913 01221 162815 REVIEWED 1346806 AZI1 5-azacytidine induced 1 17 17 17 q25.3 75792729 75827295 - 76777988 76811346 - 79163393 79196751 - 1580863;6480464 14654843;17081983;16964243;15489334;12477932;10470851;9070930;8889548;8529672;12359729;17452972;18029348;11076968;12221128;12852856;16462731;7790358;20811636;23137637;18062773;21139048;21890473;21906983;20185758;20360068;21956701;21963094;22797915;23000965;23382691;22505724 22994 I3L2J8;I3L2X7;I3L316;I3L4M5;Q9UPN4 AB029041;ABBA01032129;ABBA01032130;ABBA01032131;ABBA01032132;AC027601;AI955901;AMYH01008707;BC010413;BC011615;BC012130;BC040023;BC136578;BC136580;BC144263;BE732160;BE734213;BG773915;BU742835;BX394713;CH471099;NM_001009811;NM_014984 AAH11615;AAI36579;AAI36581;BAA83070;EAW89631;EAW89632;NP_001009811;NP_055799;Q9UPN4 Hs.514578 1651109;1757985 RH16520;SHGC-147035 AZ1;Cep131;ZA1 5-azacytidine-induced protein 1;OTTHUMP00000163603;centrosomal protein 131 kDa;centrosomal protein of 131 kDa;pre-acrosome localization protein 1 protein-coding ENSG00000141577 29511 16532 613479 VALIDATED 735892 B2M beta-2-microglobulin This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Sep 2009] 15 15 q21-q22.2 42790977 42797649 + 45003685 45010357 + 1601306;1599429;1601309;2311238;2311237;2311236;2311235;2311211;2311212;6480464;6482693;6482692;6482690;6482706;6482701;6482712;6482704;6482705;6482731;6482713;6483039;6482703;6482709;6482710;6484113;6482707;6482685;6907045;7240710 15957539;16549777;15517379;11572996;12567748;15127324;15446308;17634209;16221094;20015205;16575857;15837577;7605592;22335434;18777138;21314441;9067691;17214095;18469311;16282467;21546482;19527385;18795399;1402029;19536607 12118248;18029348;15569716;11513152;15304001;19284997;19265139;19232323;19140844;19136889;19059216;19017634;19010783;18841160;18835879;18835253;18801425;18765525;18753422;18713542;18708068;18704411;18695889;18568448;18506145;18424782;18393655;18342332;18257814;18245532;18215070;18211100;18164932;18046451;18036353;18024396;18022010;17929129;17852800;17766066;17693474;17681531;17646174;17641012;17597407;17543888;17499801;17498802;17373663;17348447;17244347;17108084;16919295;16901902;16891806;16846219;16841247;16740750;12480693;12477932;12471623;12464008;12454016;12192077;12119416;12085191;12023961;12006623;11967567;11967566;11943769;11914379;11894933;11877296;11849381;11847272;11801591;11738047;11676539;11502003;11257307;11169396;10948205;10933786;10791995;10731476;10515878;10221650;10199391;10064069;9751712;9714695;9605335;9545232;9228302;9110174;8769474;8624812;8619474;8432869;8076819;7862664;7554280;6171820;4586824;3312414;3309677;3060434;3048575;2674742;16704420;16601119;16518752;16511243;16509252;16491092;16475820;16403526;16375919;16331970;16322574;16126222;16122756;16108498;16098535;16053447;16046408;16024039;15766269;15667222;15623356;15616564;15610257;15498554;15494406;15489334;15249659;15194307;15185972;14699107;14698299;14681859;12968074;12958308;12911560;12897781;12860118;12860117;12850147;12833155;12818210;12738401;12531797;12516095;12488093;12480959;2450918;2413854;2289831;2038058;1737380;1448153;1390678;93026;16169070;14764708;17057332;20558175;19829086;17618570;20831744;12415263;18088490;18674763;19148137;19393661;19410618;19483161;19518133;19596084;19728333;19754160;19824733;19874554;20028983;20071336;20088607;20089652;20186038;20237496;20335170;20351246;20372847;20444690;20662519;19913121;20587875;20628086;21086121;22577117;22683352;22833104;21068391;21131979;21232804;21332340;20828817;21216953;21220305;21376205;22793795;21107472;21699748;8805302;21127468;21624083;18781797;21525950;18624398;20805697;21718071;22524657;21139048;21870705;22137796;22373550;22353804;22211248;21953582;22065046;22566695;17055437;22693999;22475215;22595828;20618438;22859396;22895515;23417110;22307441;23242610;23329840;21963094;23144825;23229474;22797889;18543331;21085635;21919032;15723809;22710694 567 F5H6I0;H0YLF3;J3KNU0;P61769;Q16446 AB021288;ABBA01039195;AC025270;AC122108;AF072097;AI686916;AK026463;AK303560;AK315776;AMYH01006612;AY007153;AY187687;BC032589;BC064910;BU658737;CH471082;CR457066;DQ217933;DQ839493;DQ839494;DQ884406;HH794631;M17987;NG_012920;NM_004048;S54761;S82297;S82300;V00567;X07621 AAA51811;AAB25312;AAD14387;AAD14388;AAD48083;AAG02006;AAH32589;AAH64910;AAO20842;ABB01003;ABI63354;ABI63355;ABI63373;ABM84637;ABM92168;BAA35182;BAG38125;BAG64583;CAA23830;CAG33347;CBX87172;EAW77276;EAW77277;EAW77278;NP_004039;P61769 Hs.534255 1725827;1744457;1770875;1791814;1792480;1794512;2162030;2179254;5122349 D15S799;G62079;GDB:454836;PMC126239P1;PMC151806P1;PMC316580P7;RH76;SGC31499;STS-S82300 OTTHUMP00000161912;beta chain of MHC class I molecules;beta-2 microglobulin;beta-2-microglobin;beta-2-microglobulin APPROVED protein-coding 914 00189 109700;241600 REVIEWED 1605352 AZI2 5-azacytidine induced 2 AZI2, or NAP1, contributes to the activation of NFKB (see MIM 164011)-dependent gene expression by activating IKK-related kinases, such as NAK (TBK1; MIM 604834) (Fujita et al., 2003 [PubMed 14560022]).[supplied by OMIM, Mar 2008] 3 3 3 p24.1 28300308 28327081 - 28339090 28365579 - 28363845 28390618 - 6480464;6907045 22539786;17982077;17142768;16344560;15611223;15489334;14743216;14702039;14560022;12477932;10580148;8889548;12359729;18029348;21903422;21139048;21906983 64343 C9JGA2;C9JVK8;H7C1Z1;Q9H6S1 ABBA01024980;AC098616;AF044917;AF044918;AK025592;AK290637;AMYH01013047;AY151386;BC001139;BC001853;BG777644;BM546093;BM982133;BX327318;BX386357;BX648471;CB995808;CF528511;CH471055;CS185540;DA485515;NM_001134432;NM_001134433;NM_001271650;NM_022461 AAF22368;AAF22369;AAO05967;BAB15182;BAF83326;CAJ42721;EAW64392;EAW64393;EAW64394;EAW64395;EAW64396;EAW64397;EAW64398;NP_001127904;NP_001127905;NP_001258579;NP_071906;Q9H6S1 Hs.706676 1681076;1852943;2119800;2133748 RH91098;SGC32735;SHGC-36571;STS-H03343 AZ2;NAP1;TILP 5-azacytidine induced gene 2;5-azacytidine-induced protein 2;NAK-associated protein 1;NF-kappa-B-activating kinase-associated protein 1;OTTHUMP00000161132;OTTHUMP00000208432;OTTHUMP00000208433;OTTHUMP00000208434;OTTHUMP00000226938 APPROVED protein-coding ENSG00000163512 24002 10577 609916 VALIDATED 1345395 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013] 1 1 1 q42.3 208853777 208911041 - 233679867 233734404 - 235610533 235667781 - 6480464 16710414;15489334;14724282;14702039;12477932;21890473;23453667;22268729 148789 Q8NCR0 AB209046;ABBA01033137;AK091497;AK130297;AK311626;AL135928;AL672237;AMYH01001846;AMYH01001847;AW513183;BC016974;BC029564;BQ221255;CH471098;FO393422;NG_033219;NM_001277155;NM_152490 AAH16974;AAH29564;BAD92283;CAI21727;CAI21728;EAW70026;EAW70027;EAW70028;NP_001264084;NP_689703;Q8NCR0 Hs.498143 1688026;2163340;5015619;5015861;5015961;5020948;5037552;5109281;7185938 D10S16;D11S3114;D15S1477;D1S1425;D8S2279;G35510;RH70688;RH92081 B3GalNAc-T2;MDDGA11;MGC39558 OTTHUMP00000038285;UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2;UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2;UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2;beta 1,3-N-acetylgalactosaminyltransferase-II (MGC39558);beta-1,3-GalNAc-T2;beta-1,3-N-acetylgalactosaminyltransferase II;beta-1,3-galactosaminyltransferase 2 protein-coding 28596 16533 610194 REVIEWED 731863 AZIN1 antizyme inhibitor 1 Ornithine decarboxylase (ODC) catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in polyamine biosynthesis. Ornithine decarboxylase antizymes play a role in the regulation of polyamine synthesis by binding to and inhibiting ornithine decarboxylase. The protein encoded by this gene is highly similar to ODC. It binds to ODC antizyme and stabilizes ODC, thus inhibiting antizyme-mediated ODC degradation. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 8 q22.3 100025705 100063568 - 103907712 103945573 - 103838536 103876397 - 633333;1580863;6480464;7244195 9349715;21849468 17353931;15489334;14702039;12878157;12477932;10623564;9110174;8619474;14499622;20215859;21586232;21837750;21931692;21139048;21906983;19322201;21963094;21988832;23291631;22053931 51582 E5RIB7;E5RJ16;O14977 ABBA01037623;ABBA01037624;ABBA01037625;AF070634;AK095493;AK290516;AMYH01018943;AP003354;AP003356;AP003696;AU280209;BC013420;BC019279;BC042404;BT006858;CH471060;CR456745;D88674;NM_015878;NM_148174 AAC25391;AAH13420;AAH19279;AAP35504;ABM81650;ABM83131;ABM83132;ABM86326;BAA23593;BAF83205;BAG53068;CAG33026;EAW91851;EAW91852;EAW91853;NP_056962;NP_680479;O14977 Hs.459106 1647360;1771550;1848515;2146735;2162206;2162208;2172835 A001V45;G19701;HSC12A042;RH18526;WI-19200;WI-9274;WIAF-1666 MGC3832;MGC691;OAZI;OAZIN;ODC1L AZI;OTTHUMP00000227423;OTTHUMP00000227424;antizyme inhibitor 1;ornithine decarboxylase 1-like;ornithine decarboxylase antizyme inhibitor APPROVED protein-coding ENSG00000155096 16432 07443 607909 REVIEWED 1312449 B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. Multiple transcript variants that are alternatively spliced in the 5' UTR have been described; they all encode the same protein. [provided by RefSeq, Jul 2008] 3 3 q25 162284365 162305854 - 160801671 160823160 - 6480464;6907045 9582303;16344560;15489334;15142124;14702039;12975309;12477932;12023287;10993897;10580128;9405390;8125298;6425294;2829950;2649653;2542563;2541446;2187500;18839200;19264528;17207965;18565761 8706 B3KTQ4;C9J0F8;C9J6I7;C9J8U7;C9JD16;C9JRV6;C9JXR0;E7EVF0;E7EVS2;O75752;Q49AT3;Q7L9G8;Q8TDY1 AB050855;AB050856;AB060691;ABBA01058790;AC021649;AF132731;AF154848;AF494103;AF494104;AF494105;AF494106;AI093705;AI214215;AK022491;AK095917;AK223439;AMYH01013616;AW151434;AY359049;AY505344;AY505345;AY505346;AY505347;BC028571;BC047618;CH471052;CR457170;DA188324;DB172381;DQ158095;NG_007854;NM_001038628;NM_003781;NM_033167;NM_033168;NM_033169;Y15062 AAF66442;AAF72106;AAH28571;AAH47618;AAM96009;AAM96010;AAM96011;AAM96012;AAQ89408;AAS79228;AAS79229;AAS79230;AAS79231;AAZ67917;ADQ32503;BAB14055;BAB17690;BAB17691;BAB91079;BAD97159;BAG53166;CAA75346;CAG33451;EAW78621;EAW78622;EAW78623;EAW78624;EAW78625;NP_001033717;NP_003772;NP_149357;NP_149358;NP_149359;O75752 Hs.418062 1651717;1681598;1697586;1735320;1853960;2147024 D3S2352;D3S2950E;D3S3949;RH102303;RH94057;SHGC-77497 B3GALT3;GLCT3;GLOB;Gb4Cer;P;P1;beta3Gal-T3;galT3 OTTHUMP00000213972;OTTHUMP00000213973;OTTHUMP00000213974;OTTHUMP00000213975;OTTHUMP00000213976;OTTHUMP00000213978;OTTHUMP00000213979;OTTHUMP00000213980;OTTHUMP00000213981;OTTHUMP00000213983;OTTHUMP00000213984;P antigen synthase;P blood group globoside;UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group);UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1;UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group);UDP-N-acetylgalactosamine:globotriaosylceramide beta-1,3-N-acetylgalactosaminyltransferase;b3Gal-T3;beta-1,3-GalNAc-T1;beta-1,3-GalTase 3;beta-1,3-galactosyltransferase 3;beta-3-Gx-T3;beta3GalT3;brainiac1;galactosylgalactosylglucosylceramide beta-D-acetyl-galactosaminyltransferase;globoside synthase;globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase;udp-gal:betaglcnac beta 1,3-galactosyltransferase, polypeptide 3 APPROVED protein-coding ENSG00000169255 918 09119 603094 REVIEWED 1323596 B3GALT1 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008] 2 2 2 q24.3 162284031 162336209 + 168383428 168435612 + 168675182 168727366 + 1580863;6480464;6907045 15815621;15489334;12477932;10580128;10356986;9582303;9417100;2829950;2649653;2542563;2541446;2187500;12925779;23251661;18565761 8708 Q9Y5Z6 AB041407;ABBA01004948;AC016723;AF117222;AMYH01011238;BC101545;BC104813;CH471058;E07739;NM_020981 AAD23451;AAI01546;AAI04814;AAY15002;BAA94492;EAX11306;EAX11307;NP_066191;Q9Y5Z6 Hs.735833 1338140;2218280;5492973;5494055 B3GALT1_4410;D2S2345;UniSTS:480848;UniSTS:483473 MGC126594;beta3Gal-T1 UDP-galactose:beta-N-acetyl-glucosamine-beta-1,3-galactosyltransferase 1;beta-1,3-GalTase 1;beta-1,3-galactosyltransferase 1;beta-3-galt1;beta3GalT1 APPROVED protein-coding ENSG00000172318 916 04369 603093 REVIEWED 1347261 B3GALT2 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008] 1 1 1 q31 166257459 166265341 - 191414799 191422347 - 193147860 193155743 - 1580863;6480464;6907045 9417100;16710414;16344560;15489334;12477932;11318611;10580128;9582303;2829950;2649653;2542563;2541446;2187500;17207965;18565761 8707 O43825 ABBA01027636;AF288390;AK314116;AL390863;AMYH01001593;BC022507;CH471067;CS265714;DA116294;NG_012691;NM_003783;Y15060 AAG60610;AAH22507;ADQ32440;BAG36808;CAA75344;CAJ78385;EAW91251;NP_003774;O43825 Hs.518834 1746457;1847722;2219024 B3GALT2_4411;G64641;SHGC-76070 BETA3GALT2;GLCT2;beta3Gal-T2 OTTHUMP00000033797;UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase 2;beta-1,3-GalTase 2;beta-1,3-galactosyltransferase 2;beta-3-galt2 APPROVED protein-coding ENSG00000162630 917 04313 603018 REVIEWED 1319963 B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013] 1 1 1 p36.33 1413233 1416025 - 1157492 1160284 + 1167629 1170421 + 1580863;6480464;6907045 11551958;16710414;12477932;9892646;19913121;20628086;21139048 126792 Q499Z2;Q96L58 ABBA01016023;ABBA01016024;AL162741;AMYH01000117;BC015549;BC041621;BC051719;BE249959;BF002665;BG290330;CH471183;NG_030007;NG_033265;NM_080605 AAH51719;AAI60034;EAW56269;NP_542172;Q96L58 Hs.284284 1851909;2185123;5493157 SHGC-74127;SHGC-74129;UniSTS:484488 EDSP2;SEMDJL1;beta3GalT6 GAG GalTII;OTTHUMP00000001756;UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6;beta-1,3-GalTase 6;beta-1,3-galactosyltransferase 6;beta3Gal-T6;galactosyltransferase II;galactosylxylosylprotein 3-beta-galactosyltransferase protein-coding ENSG00000176022 17978 12509 271640;615291;615349 REVIEWED 2306330 B3GAT3P1 beta-1,3-glucuronyltransferase 3 pseudogene 1 3 3 3 q25.33 158592181 158593614 + 161652779 161654407 + 160170156 160171597 + 11535117 402146 AB049116;ABBA01058796;AC024221;AMYH01013615;NG_005351 5017684 B3GAT3 B3GAT3P;PSIGLCAT-I APPROVED pseudo 35243 INFERRED 1343637 B3GALT4 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34799275 34800960 + 33352895 33354580 + 33244917 33246602 + 1580863;6480464;6907045 9582303;19225246;18193043;16303743;15489334;14574404;12477932;10663566;10580128;8889548;2829950;2649653;2542563;2541446;2187500;16169070;19851445;20594196;21519903;21900206;18565761 8705 B3KQP5;O96024;Q5STJ7 AB022537;AB026730;ABBA01038139;AF063595;AK075312;AK315647;AL031228;AL662820;AL662827;AL844527;AMYH01016243;BC032574;BU740293;CH471081;CR457093;CR759786;CR759817;FJ525877;NM_003782;Y15061 AAG43154;AAH32574;ABW03296;ABW03644;ACN81315;BAA88988;BAG38014;BAG52107;CAA20230;CAA75345;CAG33374;EAX03700;NP_003773;O96024 Hs.534375 1668110;1685556;1694606;2184242 G43302;RH12439;RH12532;RH77 BETA3GALT4;GALT2;GALT4 OTTHUMP00000029128;UDP-galactose:beta-N-acetyl-galactosamine-beta-1,3-galactosyltransferase;b3Gal-T4;beta-1,3-GalTase 4;beta-1,3-galactosyltransferase 4;beta-3-galactosyltransferase 4;gal-T2;ganglioside galactosyltransferase APPROVED protein-coding ENSG00000235863 919 04370 603095 REVIEWED 733365 B3GAT1 beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 11 11 q25 133753608 133787022 - 134248398 134281812 - 6480464;6907045 10783264;19343046;18802400;18383036;18201430;17567734;17035093;16807373;16257185;15879103;15626024;14993226;12883721;12874601;12687271;12477932;12433688;11986319;11788581;10946001;10526176;9110174;8619474;22310831;21056957;20696944;20733159;20229169;19564339;20950796;20525712;19794085;21491089;21908519;22127595;21988832;23287865;22496218;22900004 27087 F5H0S0;Q9P2W7 AB029396;ABBA01031117;AF131769;AK299637;AL834455;AMYH01004147;AP003971;BC010466;CR457098;NM_018644;NM_054025 AAH10466;ABM84250;ABM86204;ABM87639;BAA96077;BAH13084;CAD39115;CAG33379;NP_061114;NP_473366;Q9P2W7 Hs.381050 1672507;2121695;2185957 STS-Z40857;WI-13607;WI-15127 CD57;GLCATP;GLCUATP;HNK1;LEU7;NK-1;NK1 LEU7 antigen;OTTHUMP00000235432;UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase;galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1;glcUAT-P;glucuronosyltransferase P APPROVED protein-coding ENSG00000109956 921 06969 151290 REVIEWED 1315510 B3GALT5 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants have been observed for this gene, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2013] 21 21 q22.3 39951124 39956685 + 41029254 41034815 + 1580863;2317558;6480464;6907045 14555842 22001559;10212226;16780588;19225246;17107959;16112824;15489334;15263012;14534330;12477932;10830953;10580128;10406968;2829950;2649653;2542563;2541446;2187500;19136585;19567891;20494980;11058588;11337467;12855703;14686931;16484342;17212986;22101162 10317 Q9Y2C3 AB020337;AB041413;AB041416;ABBA01009331;AF064860;AF145784;AJ006078;AK292951;AL163280;AMYH01012253;AU100432;AW136254;AY372061;BC104862;BC104864;CH471079;DQ645732;DQ645733;DQ645734;DQ645735;DQ645736;DQ645737;DQ645738;NM_001278650;NM_006057;NM_033170;NM_033171;NM_033172 AAF07880;AAI04863;AAI04865;AAR08910;BAA77664;BAA94498;BAA94501;BAF85640;CAB90446;CAB91547;EAX09628;EAX09629;EAX09630;EAX09631;EAX09632;NP_001265579;NP_006048;NP_149360;NP_149361;NP_149362;Q9Y2C3 Hs.733638 2219026;5492851 B3GALT5__4412;UniSTS:483043 B3GalT-V;B3GalTx;B3T5;GLCT5;beta-1,3-GalTase 5;beta-3-Gx-T5;beta3Gal-T5 GlcNAc-beta-1,3-galactosyltransferase 5;OTTHUMP00000109186;UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 5;UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5;b3Gal-T5;beta-1,3-GalTase 5;beta-1,3-galactosyltransferase 5;beta-3-Gx-T5;beta-3-galactosyltransferase 5;beta3GalT5;homolog of C. elegans Bt toxin resistance gene bre-5 APPROVED protein-coding ENSG00000183778 920 06818 604066 REVIEWED 1604745 B3GALTL beta 1,3-galactosyltransferase-like The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009] 13 13 q12.3 30672112 30804413 + 31774112 31906413 + 6480464;6907045;7240710 18798333;18199743;17032646;16909395;16899492;16344560;15489334;15057823;14702039;12943678;12477932;19796186;20379614;21067481;20301637;21671750;19322201;23455636;22759511 145173 Q6Y288 AA769548;AB101481;ABBA01010122;ABBA01010123;ABBA01010124;AK094979;AK291273;AL137142;AL138965;AMYH01005013;AMYH01005014;AMYH01005015;AMYH01005016;AMYH01005017;AV728071;AY190526;BC031597;BC032021;BC047395;BC068595;BX647932;CH471075;DA290408;DN999521;NG_011732;NM_194318 AAH68595;AAO37647;BAD13528;BAF83962;EAX08483;NP_919299;Q6Y288 Hs.13205 1675770;1679321;1679886;1681777;1738397;1758261;1858275;2113336;2113374;2113432;2113456;2121319;2135545;5092694 A005Q24;D13S1729;D13S1750;D13S1780;D13S1793;D13S664E;G30975;G32270;RH25845;RH48618;RH92132;RH92545;RH92639;SHGC-147825 B3GLCT;B3GTL;B3Glc-T;Gal-T;beta3Glc-T OTTHUMP00000018218;UDP-GAL:beta-GlcNAc beta-1,3-galactosyltransferase-like;beta 3-glycosyltransferase-like;beta-1,3-glucosyltransferase;beta-3-glycosyltransferase-like APPROVED protein-coding ENSG00000187676 20207 12513 261540;610308 REVIEWED 1348026 B3GAT2 beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008] 6 6 6 q13 71959433 72055143 - 71627790 71723509 - 71571069 71666788 - 1580863;6480464;6907045 16897771;16344560;15470230;15039073;14702039;14574404;12522689;12477932;11853319;20950796;19913121;20628086;21326311;23251661 135152 Q29RV3;Q9NPZ5 AB075843;ABBA01040271;ABBA01040272;AK055248;AK290018;AL121961;AL450320;AMYH01016417;AY070019;AY070110;BC101163;BC101165;BC113995;CH471051;DA782678;NM_080742 AAI13996;AAL57718;AAL58977;BAB70889;BAB85549;BAF82707;EAW48804;NP_542780;Q9NPZ5 Hs.713609 1661027;1673583;1689113;1739949;1853331;1855891;2119078;2136715;2138387;2140889 A003B38;D20S768;D6S1180E.1;D6S1220E;D6S1413;RH15822;RH18293;RH75302;SHGC-30828;WI-13200 GLCATS;KIAA1963;MGC138535 OTTHUMP00000016710;UDP-glucuronosyltransferase S;UDP-glucuronyltransferase S;galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2;glcAT-D;glucuronosyltransferase S;uridine diphosphate glucuronic acid:acceptor glucuronosyltransferase APPROVED protein-coding 922 06325 607497 REVIEWED 1323698 B3GAT3 beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. [provided by RefSeq, Jul 2008] 11 11 q12.3 62139344 62146024 - 62382768 62389647 - 1580863;6480464;6907045 10842173;18400750;17567734;15601778;15522873;15489334;12794088;12477932;11535117;10946001;10526176;9927678;9506957;17207965;21763480;20301725;21882400;21988832 26229 B7ZAB3;E9PNA1;E9PQ60;G3V150;O94766 AB009598;ABBA01003230;AJ005865;AK075166;AK297970;AK310200;AK316228;AMYH01003690;AP001458;BC007906;BC011173;BC019832;BC071961;CH471076;NG_031863;NM_012200 AAH07906;AAH19832;AAH71961;ADQ32307;BAA34537;BAG60280;BAH14599;CAA06742;EAW74042;EAW74043;EAW74044;NP_036332;O94766 Hs.502759 2109077;2128657;2157835;5014051;5017684 B3GAT3;B3GAT3_9473;D8S2278;ROM1;WI-9219 GLCATI OTTHUMP00000236456;OTTHUMP00000236457;OTTHUMP00000236459;Sqv-8-like protein;UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase;galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3;glcUAT-I;glucuronosyltransferase I APPROVED protein-coding ENSG00000149541 923 07564 245600;606374 REVIEWED 1320043 B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008] 12 12 12 q24 122277574 122281430 + 121254181 121258037 + 122688228 122692084 + 6480464;6907045 14702039;12975309;12477932;11042166;10580128;21145461;16169070;23263486 79369 Q9C0J1 AB049586;ABBA01060479;AC048338;AF321825;AJ130848;AJ278962;AK095746;AL834452;AMYH01004825;AY358940;BC030247;BC031399;CH471054;NM_030765 AAH31399;AAL37219;AAQ89299;ABM82210;ABM85395;BAB21532;BAC04622;CAC45045;CAC82375;CAD39112;EAW98308;EAW98309;NP_110392;Q9C0J1 Hs.363315 1666483;1686096;2167553;2186117 D12S1399;D12S1578;NIB962;RH48119 B3GN-T4;beta3Gn-T4 BGnT-4;OTTHUMP00000239741;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4;beta-1,3-Gn-T4;beta-1,3-N-acetylglucosaminyltransferase 4;beta-1,3-N-acetylglucosaminyltransferase bGn-T4 APPROVED protein-coding ENSG00000176383 15683 12058 605864 REVIEWED 1321569 B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 2 2 2 q37.1 226036697 226042236 + 231968579 231971928 + 232260335 232265875 + 1580863;6480464;6907045 17690104;15815621;14706853;12061784 93010 Q8NFL0 ABBA01002057;ABBA01002058;AC017104;AF502430;AK000770;AK126207;AMYH01011556;AMYH01011557;CH471063;NM_145236 AAI40378;AAI48681;AAM61770;AAY24246;BAG54296;EAW70958;EAW70959;NP_660279;Q8NFL0 Hs.299329 2218284;5126374 B3GNT7_4416;G10658 beta3GnT7 BGnT-7;OTTHUMP00000204559;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7;beta 1,3-N-acetylglucosaminyltransferase 7;beta-1,3-Gn-T7;beta-1,3-N-acetylglucosaminyltransferase 7;beta3Gn-T7 protein-coding ENSG00000156966 18811 12512 615313 VALIDATED 1313364 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 19 19 19 q13.2 38731099 38734479 - 46623104 46626475 - 41931264 41934635 - 1580863;6480464 15620693;18826941;15486459;20963502;22901175;21468598 374907 Q7Z7M8 AB175895;ABBA01040808;AC011462;AJ419172;AMYH01009820;AY277592;NM_198540 AAI56489;AAI72521;AAP34405;BAD86525;CAD11601;NP_940942;Q7Z7M8 Hs.441681 B3GALT7;BGALT15;beta3Gn-T8 BGnT-8;UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 7;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8;beta galactosyltransferase BGALT15;beta-1,3-Gn-T8;beta-1,3-N-acetylglucosaminyltransferase 8;beta1,3-N-acetylglucosaminyltransferase 8 protein-coding ENSG00000177191 24139 12510 615357 VALIDATED 1319932 B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008] 11 11 11 q13.2 63432751 63435069 - 65869419 65871737 - 66112843 66115161 - 1580863;6480464;6907045 19587235;19261593;16344560;16303743;15489334;12477932;9405606;8125298;23080069;23284715;21926972;21139048 11041 B4DGI0;O43505 ABBA01024083;AF029893;AK075354;AK098389;AK098779;AK225182;AK293715;AK294604;AMYH01003733;AP001107;BC021965;CH471076;DA169103;DQ066422;NG_033202;NM_006876 AAC39538;AAH21965;AAY46155;ABM83632;ABM86883;BAG52119;BAG57146;BAG57791;EAW74517;EAW74518;NP_006867;O43505 Hs.8526 1671534;1767608 STS-W44699;WI-20154 B3GN-T1;B3GNT6;BETA3GNTI;MDDGA13;iGAT;iGNT N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase;OTTHUMP00000235058;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6;beta-1,3-N-acetylglucosaminyltransferase bGnT-6;i-beta-1,3-N-acetylglucosaminyltransferase;poly-N-acetyllactosamine extension enzyme APPROVED protein-coding ENSG00000174684 15685 09270 605517;615287 REVIEWED 1313012 B3GNT3 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 17807662 17826113 + 17766919 17785385 + 17905919 17924385 + 1580863;6480464;6907045 10072769;17827388;16344560;16303743;15489334;12975309;12477932;11439191;11042166;10737800;10580128;8125298;20424473;17207965;21048031;23300138 10331 M0QX58;M0R199;Q9Y2A9 AB015630;AB049585;ABBA01051232;AC008761;AF293973;AJ130847;AJ278961;AK075434;AK075466;AK225421;AK225478;AK314323;AMYH01009576;AW848963;AY358955;BC066876;BC067423;CH471106;DA385410;DB104034;NG_028981;NM_014256 AAH66876;AAH67423;AAK00849;AAQ89314;ADQ32033;BAA76497;BAB21531;BAG36971;BAG52147;CAC45044;CAC82374;EAW84631;NP_055071;Q9Y2A9 Hs.657825;Hs.69009 1338424;1731505;1758999;1778228;2114608;2131958;5019711;5093158;5128169 A009H37;A009I31;D19S386;D19S915;G32554;G32565;SHGC-151107;SHGC-152107;WI-17661 B3GAL-T8;B3GN-T3;B3GNT-3;HP10328;TMEM3;beta3Gn-T3 BGnT-3;UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 8;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3;UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 8;beta-1,3-GalTase 8;beta-1,3-Gn-T3;beta-1,3-N-acetylglucosaminyltransferase 3;beta-1,3-N-acetylglucosaminyltransferase bGnT-3;beta-1,3-galactosyltransferase 8;beta-3-Gx-T8;beta3Gal-T8;beta3GalT8;core 1 extending beta-1,3-N-acetylglucosaminyltransferase;core1-beta3GlcNAcT;putative type II membrane protein;transmembrane protein 3 APPROVED protein-coding ENSG00000179913 13528 10431 605863 REVIEWED 1320774 B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. [provided by RefSeq, Jul 2008] 2 2 p15 62276766 62305370 + 62423262 62451866 + 1580863;6480464;6907045 18826941;16335952;15560372;15489334;14759258;14702039;14686931;14555842;12855703;12477932;12464682;11042166;10580128;9892646;17207965;20062062;21890473;21906983;22446963 10678 Q9NY97 AB049584;ABBA01075382;AC018462;AC093401;AF092051;AF288208;AF288209;AJ006077;AK002009;AMYH01010390;BC030579;BC047933;CH471053;NM_006577 AAD09764;AAF97253;AAF97254;AAH30579;AAH47933;AAX93271;ADQ31689;BAA92031;BAB21530;CAB91546;EAW99977;EAW99978;EAW99979;EAW99980;NP_006568;Q9NY97 Hs.173203 1654531;1685738;1767721;2180250;2218282;5092728 A005U48;B3GNT1_4414;G32292;RH45152;RH48653;WI-17834 B3GN-T1;B3GN-T2;B3GNT;B3GNT-2;B3GNT1;BETA3GNT;BGNT2;BGnT-2 OTTHUMP00000159816;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2;beta-1,3-Gn-T1;beta-1,3-Gn-T2;beta-1,3-N-acetylglucosaminyltransferase bGnT-1;beta-1,3-N-acetylglucosaminyltransferase bGnT-2;beta3Gn-T1;beta3Gn-T2 APPROVED protein-coding ENSG00000170340 15629 09279 605581 REVIEWED 1601928 B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) 11 11 11 q13.4 74052931 74060511 + 76423083 76430668 + 76745435 76753020 + 6480464;6907045 11821425;16344560;15755813;12477932;19395705;15203218 192134 A8K9Q8;C9JDU9;E9PJ79;Q6ZMB0 AB073740;ABBA01017441;ABBA01017442;AK127544;AK172863;AK292773;AK313682;AMYH01003823;AP000752;BC025357;BC103908;BC103909;BC103910;CD636501;CH471076;DA437068;DA439499;FP884229;NM_138706 AAH25357;AAI03909;AAI03910;AAI03911;BAB88882;BAC87028;BAD18819;BAF85462;BAG36432;EAW75013;NP_619651;Q6ZMB0 Hs.352622 5015961;5020885 D15S1477;L17791 B3Gn-T6;BGnT-6;IMAGE:4907098;MGC119334;MGC119336;MGC119337;beta-1,3-Gn-T6;beta3Gn-T6 BGnT-6;OTTHUMP00000229266;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6;beta-1,3-Gn-T6;beta-1,3-N-acetylglucosaminyltransferase 6;beta-1,3-N-acetylglucosaminyltransferase protein;beta3Gn-T6;core 3 synthase protein-coding ENSG00000198488 24141 16534 615315 VALIDATED 735674 B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq, Jul 2008] 3 3 3 q28 181406353 181426501 + 184453726 184473873 + 182971032 182991179 + 70806;1580863;6480464;6907045 11283017 11384981;18483624;15342556;14702039;12477932;8889548;20734064;22411838;21988832 84002 C9IYY0;C9J368;C9J5K2;Q9BYG0 AB045278;AB209517;ABBA01058481;ABBA01058482;AC069417;AF368169;AJ304505;AK074235;AK074424;AK091474;AMYH01013707;BC028058;BF001695;BP270576;BU684277;CH471052;NM_032047 AAH28058;AAK53403;ABM81996;ABM85178;BAB40940;BAD92754;BAG52370;CAC83093;EAW78333;EAW78334;EAW78335;EAW78336;NP_114436;Q9BYG0 Hs.718506 1654658;1686630 RH98948;WI-13813 B3GN-T5;beta3Gn-T5 BGnT-5;OTTHUMP00000212932;OTTHUMP00000212935;OTTHUMP00000212936;OTTHUMP00000212937;UDP-GlcNAc:beta-Gal beta-1,3-N-acetylglucosaminyltransferase 5;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5;beta 1,3 N-acetyglucosaminyltransferase Lc3 synthase;beta-1,3-Gn-T5;beta-1,3-N-acetylglucosaminyltransferase 5;beta-1,3-N-acetylglucosaminyltransferase bGnT-5;lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase;lactotriaosylceramide synthase;lc(3)Cer synthase;lc3 synthase APPROVED protein-coding ENSG00000176597 15684 12511 615333 REVIEWED 1603523 B4GALNT3 beta-1,4-N-acetyl-galactosaminyl transferase 3 B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008] 12 12 12 p13.33 2176639 2277425 + 439804 541319 + 569543 671058 + 6480464 18048353;17579116;16728562;15146197;14702039;12966086;22722937;22722940;20360844;20379614 283358 E9PHD9;Q6L9W6;Q8N9V0 AB089940;ABBA01048847;ABBA01048848;ABBA01048849;ABBA01048850;ABBA01048851;ABBA01048852;AC005844;AC006205;AK093503;AK097681;AK131277;AMYH01004166;AMYH01004167;AMYH01004168;CH471116;CN400443;NM_173593 AAI56654;BAC04187;BAC05141;BAD02449;BAD18454;EAW88962;EAW88963;EAW88964;EAW88965;NP_775864;Q6L9W6 Hs.504416 1338499;1689085;1704820;1733624;1759145;1858038;2183630;5015063 D12S352;D12S994;G41229;RH47453;RH93158;SHGC-151131;SHGC-152167;SHGC-79880 FLJ16224;FLJ40362 B4GalNAcT3;Beta4GalNAc-T3;N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase;N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2;NGalNAc-T2;OTTHUMP00000159611;beta-1,4-N-acetylgalactosaminyltransferase 3;beta-1,4-N-acetylgalactosaminyltransferase III;beta4GalNAcT3 APPROVED protein-coding 24137 12514 612220 VALIDATED 1603192 B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 16 16 16 q22.1 51690248 51693145 - 65739506 65742403 - 67182005 67184902 - 6480464 12975309;12477932;19913121;20628086;17110338;19060904 84752 Q6UX72;Q7Z4F9 ABBA01025431;AC074143;AF171091;AMYH01007745;AY358485;BC012191;BC022849;BU617330;CF994177;CH471092;NM_033309 AAQ13602;AAQ88849;EAW83079;NP_171608;Q6UX72 Hs.744158 1672105;2162615 D16S2584E;RH44529 MGC4655 BGnT-9;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9;beta-1,3-Gn-T9;beta-1,3-N-acetylglucosaminyltransferase 9;beta-1,3-galactosyltransferase-related protein;beta3Gn-T9 protein-coding ENSG00000237172 28714 14651 VALIDATED 731293 B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] 12 12 q13.3 56305818 56313252 - 58019551 58026985 - 1580863;704404;6480464;6907045 8702839;1601877;19318031;17119850;12477932;11018043;10978536;10477274;8824296;8690719;8120069;19457569;21135695;16344560;21906983 2583 B4DE26;B4DSP5;F8VR44;F8VSE0;F8VU35;F8VW33;F8W1A7;H0YHT1;H0YI57;Q00973;Q59FK0;Q8N636 AB209460;ABBA01026694;ABBA01026695;AC025165;AK127448;AK289690;AK293432;AK299845;AK302503;AMYH01004522;BC029828;CH471054;DA483728;HQ860786;HQ860787;HQ860788;HQ860789;L76079;M83651;NM_001276468;NM_001276469;NM_001478 AAA35516;AAH29828;ADZ15711;AEJ36341;AEJ36342;AEJ36343;AEJ36344;BAD92697;BAF82379;BAG56937;BAG61707;BAH13729;EAW97042;EAW97043;NP_001263397;NP_001263398;NP_001469;Q00973 Hs.159481 2122078;2146340;2151807;2181131 D12S1969;D12S2059;RH1607;WI-15888 GALGT;GALNACT;GalNAc-T;SPG26 (N-acetylneuraminyl)-galactosylglucosylceramide;GD2 synthase, GM2 synthase;GM2/GD2 synthase;GalNAc-T;OTTHUMP00000243172;OTTHUMP00000243173;UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1;UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T);beta-1,4 N-acetylgalactosaminyltransferase 1;beta1,4GalNAc-T;beta1-4GalNAc-T APPROVED protein-coding ENSG00000135454 4117 03525 601873;609195 REVIEWED 1603899 B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 17 17 17 q25.3 77497246 77604381 - 78494956 78602975 - 80901667 81009686 - 6480464 15560372;14702039;12477932;9110174;8619474;16169070;21963094;21890473 146712 I3L1A1;I3L232;I3L4B6;Q67FW5 ABBA01019711;ABBA01019712;ABBA01019713;AC130371;AK054757;AK126018;AMYH01008745;AMYH01008746;AY304503;AY634364;BC019623;BC035891;BC041588;BC065543;BC110528;BC110529;CH471099;NM_001009905;U79265 AAH19623;AAI10529;AAI10530;AAQ74775;AAT47555;EAW89825;EAW89827;EAW89830;NP_001009905;Q67FW5 Hs.607824 1649726;1674254;1678599;1710706;1734430;1762063;2152394;2174188 D17S1402E;RH11658;RH15906;RH92242;SHGC-145974;SHGC-32338;SHGC-57794;SHGC-83674 B3GNT8;MGC126253;MGC126256 BGnT-8;BGnT-like protein 1;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1;beta-1,3-Gn-T8;beta-1,3-N-acetylglucosaminyltransferase 8;beta1,3-N-acetylglucosaminyltransferase-like protein 1;beta3Gn-T-like protein 1;beta3Gn-T8;beta3GnTL1 protein-coding ENSG00000175711 21727 14071;18527 615337 VALIDATED 6481160 B4GALT4-AS1 B4GALT4 antisense RNA 1 100874201 AC083800;AC092981 APPROVED miscrna 40090 1354479 B4GALNT2 beta-1,4-N-acetyl-galactosaminyl transferase 2 B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008] 17 17 q21.32 44565328 44602121 + 47209822 47247351 + 1580863;6480464;7240710 12678917;14688233;16024623;18485915;17965433;15489334;12477932;11886838;8782649;2425965;20379614 124872 Q8NHY0 ABBA01041190;AC069454;AF510036;AJ517770;AJ517771;AK302876;AMYH01008460;BC113675;BC113677;CH471109;NM_001159387;NM_001159388;NM_153446;S83275 AAI13676;AAI13678;AAM34756;AAN86706;ADR83075;ADR83221;BAG64056;CAD57148;CAD57149;EAW94690;EAW94691;NP_001152859;NP_001152860;NP_703147;Q8NHY0 Hs.374679 1700146;1826366 ECD14296;RH103686 B4GALT;GALGT2;MGC142235;MGC142237 OTTHUMP00000220015;OTTHUMP00000220016;OTTHUMP00000220017;UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase;beta 1,4 N-acetylgalactosaminyltransferase/betal,4 GalNAcT/Sda-GalNAcT;beta-1,4 N-acetylgalactosaminyltransferase 2;beta-4-N-acetylgalactosaminyltransferase;sd(a) beta-1,4-GalNAc transferase;sda beta-1,4-GalNAc transferase APPROVED protein-coding ENSG00000167080 24136 13558 111730 VALIDATED 1602277 B4GALNT4 beta-1,4-N-acetyl-galactosaminyl transferase 4 11 11 11 p15.5 431440 441661 + 359804 371792 + 369795 382117 + 6480464 18048353;15146197;15044014;14702039;12477932;22722937;22722940 338707 H0YCU7;H0YDW6;Q76KP1 AB089939;ABBA01015176;ABBA01015177;ABBA01015178;AC138230;AK057774;AMYH01003279;AMYH01003280;AMYH01003281;BC035906;BC131528;BF058197;CH471158;CN348077;NM_178537 AAI31529;BAB71566;BAD06471;EAX02321;NP_848632;Q76KP1 Hs.148074 FLJ25045 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1;NGalNAc-T1;OTTHUMP00000147617;beta-1,4-N-acetylgalactosaminyltransferase IV;beta1,4-N-acetylgalactosaminyltransferases IV;beta4GalNAc-T4;beta4GalNAcT4;betaGT4 protein-coding ENSG00000182272 26315 08046 VALIDATED 1313336 B4GALT2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 1 1 p34-p33 44217453 44229427 + 44444874 44456843 + 1580863;6480464;6907045 9405390;18211920;17470362;16710414;15939404;15504978;15489334;14702039;12477932;11588157;10580128;9597550;2829950;2649653;2542563;2541446;2187500;19524017;12107413;18565761 8704 Q5T4Y5 AB024434;ABBA01050934;ABBA01050935;AF038660;AI702508;AK074533;AK095873;AK293418;AL137647;AL139220;AL357079;AL535811;AMYH01000564;BC002431;BC096821;BQ222671;CD675528;CH471059;DC386748;NM_001005417;NM_003780;NM_030587;Y12510 AAC39733;AAH96821;BAA75819;BAG51967;BAG53152;BAG56925;CAA73112;CAB70857;EAX07062;EAX07063;EAX07064;EAX07065;NP_001005417;NP_003771;NP_085076;O60909 Hs.632403;Hs.736507 1662251;1730267;1761635;2124550;2218288;7184711;7187617 B4GALT2_4418;D1S280E;HSCZOA042;SHGC-145624;SHGC-74711 B4Gal-T2;B4Gal-T3;beta4Gal-T2 OTTHUMP00000010008;OTTHUMP00000010009;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 2;UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 2;UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 2;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 2;beta-1,4-GalTase 2;beta-1,4-galactosyltransferase 2;beta-4-GalT2;beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 2 APPROVED protein-coding ENSG00000117411 925 04928 604013 REVIEWED 1349315 B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008] 9 9 p13 33100642 33157236 - 33110639 33167356 - 1599432;1580863;6480464;6907045;7240710 11901181 33805;2120039;7540104;10900002;6121819;3917437;18029348;19204726;19106107;18929424;17021253;16786197;16675551;16157350;15668241;15611127;15164053;12477932;11947697;11506180;11295846;10580128;9597550;8540625;7744867;7579794;3144273;3098628;3094506;3091013;2124683;1903938;1714903;1384956;2829950;2649653;2542563;2541446;2187500;19261593;20202494;20378551;20379614;20619088;20655926;20851383;20490888;22740701;22982306;22939629;20467438;21963094;22927297;20360068;21139048;22847114;19322201;21750942;20301507;20886274;23263486;23382691;23583406;18215327;18314154;18330979 2683 B4DMM8;Q14523;Q86XA6 A23697;ABBA01065064;ABBA01065065;ABBA01065066;ABBA01065067;ABBA01065068;ABBA01065069;AK296928;AK297541;AK312797;AK316294;AL161445;AMYH01019321;AY864848;BC034244;BC035442;BC045773;BU624063;BX648438;CH471071;D29805;GM603708;M13701;M22921;M70432;NG_008919;NM_001497;U10472;U10473;U10474;X13223;X14085;X55415 AAA35935;AAA35936;AAA35937;AAA68218;AAA68219;AAA68220;AAB00776;AAH45773;BAA06188;BAG35657;BAG59480;BAG59940;BAH14665;CAA01685;CAA31611;CAA32247;CAA39073;CAA39074;CAT03462;EAW58520;EAW58521;NP_001488;P15291 Hs.272011 1335482;1342135;1662093;1663499;1717681;1721659;1759683;1774437;1792430;1792774;2121045;2132862;2218286;5022004 A006S33;B4GALT1_4417;D4Ulb4;D9S1705;D9S1788;D9S1845;G59840;PMC150909P1;PMC16394P1;RH122271;RH16521;RH17851;SHGC-150820;SHGC-31076 B4GAL-T1;CDG2D;DKFZp686N19253;GGTB2;GT1;GTB;MGC50983;beta4Gal-T1 OTTHUMP00000021196;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1;beta-1,4-GalTase 1;beta-1,4-galactosyltransferase 1;glycoprotein-4-beta-galactosyltransferase 2;lactose synthase APPROVED protein-coding ENSG00000086062 924 00659 137060;607091 REVIEWED 1354334 B4GALT3 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010] 1 1 1 q21-q23 134208254 134214467 - 159407725 159413938 - 161141100 161147758 - 1580863;6480464;6907045 9405390;18029348;17613536;16710414;15489334;14702039;12477932;11588157;10580128;9597550;2829950;2649653;2542563;2541446;2187500;16169070;18565761 8703 A8K5Z0;O60512 AB024435;ABBA01016596;AF038661;AK023311;AK056851;AK092493;AK291455;AL590714;AMYH01001457;BC000276;BC006099;BC009985;CH471121;DC339671;NG_011480;NM_001199873;NM_001199874;NM_003779;Y12509 AAC39734;AAH00276;AAH06099;AAH09985;ABM83420;ABM86632;BAA75820;BAB14520;BAF84144;BAG51816;BAG52558;CAA73111;EAW52628;EAW52629;EAW52630;EAW52631;EAW52632;EAW52633;EAW52634;NP_001186802;NP_001186803;NP_003770;O60512 Hs.321231;Hs.741821 1672738;1725645;1848835;2128992;2146481;2150332 A001T06;G62099;RH11845;RH64523;RH64578;RH71218 beta4Gal-T3 OTTHUMP00000032247;OTTHUMP00000032248;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 3;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 3;b4Gal-T3;beta-1,4-GalTase 3;beta-1,4-galactosyltransferase 3;beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 3 APPROVED protein-coding 926 04929 604014 REVIEWED 1602004 B9D1 B9 protein domain 1 This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Three alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Aug 2011] 17 17 17 p11.2 16659306 16678871 - 19187076 19206639 - 19240867 19281495 - 6480464 15231747;19208769;12477932;18337471;21493627;22990118;21890473;21963094;23000965 27077 A8MTX4;A8MYG7;B4DN64;H7C3B7;I3L126;I3L2R1;I3L435;J3KSN2;J3QKN6;J3QKV6;Q9UPM9 AB030506;ABBA01054609;ABBA01054610;ABBA01054611;AC124066;AI300844;AK293815;AK297782;AK309320;AMYH01008233;BC002944;BI833202;CH471212;NG_031885;NM_001243473;NM_001243475;NM_015681 AAH02944;BAA82655;BAG57221;BAG60126;EAW50878;EAW50879;EAW50880;EAW50881;EAW50882;NP_001230402;NP_001230404;NP_056496;Q9UPM9 Hs.462445 2138669 STS-W44801 B9;EPPB9;MKS9;MKSR1 B9 domain-containing protein 1;MKS1-related protein 1;OTTHUMP00000065900;OTTHUMP00000065901;OTTHUMP00000065902;OTTHUMP00000065903;OTTHUMP00000065904;OTTHUMP00000065905;endothelial precursor protein B9 APPROVED protein-coding ENSG00000108641 24123 16866 614144;614209 REVIEWED 1317330 B4GALT4 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q13.3 117339081 117368232 - 120413279 120442442 - 118930589 118959752 - 6480464;6907045 9792633;15489334;14702039;12975309;12477932;11588157;11337467;10580128;9597550;2829950;2649653;2542563;2541446;2187500;18763123;18565761 8702 B2RAZ5;B3KM35;C9J3R8;C9J4S5;C9J5S0;C9J644;C9JA31;C9JE00;C9JY35;C9JY38;E7ETS9;O60513 AB024436;ABBA01061587;AC083800;AF020920;AF022367;AF038662;AK001006;AK123182;AK301688;AK314425;AL833580;AMYH01013417;AU099090;AY359008;BC004523;BC062618;BX647468;CH471052;CR749555;FJ525878;NM_003778;NM_212543 AAC39735;AAC72493;AAG50147;AAH04523;AAH62618;AAQ89367;ACN81316;BAA75821;BAG37042;BAG50847;BAG63160;CAH18352;EAW79575;EAW79576;NP_003769;NP_997708;O60513 Hs.13225 1712336;2107875;2163750;2165826 B4GALT4_8849;G54077;RH79045;SHGC-77230 B4Gal-T4;beta4Gal-T4 OTTHUMP00000215049;OTTHUMP00000215050;OTTHUMP00000215054;OTTHUMP00000215078;OTTHUMP00000215079;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 4;UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 4;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 4;beta-1,4-GalTase 4;beta-1,4-galactosyltransferase 4;beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 4 APPROVED protein-coding ENSG00000121578 927 04930 604015 REVIEWED 737376 B4GALT6 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jul 2008] 18 18 18 q11 26009322 26071820 - 27457131 27518626 - 29202209 29264686 - 1580863;1300048;6480464;6907045 9597550;15489334;12665801;12477932;12180132;10580128;10320813;2829950;2649653;2542563;2541446;2187500;19451621 9331 G3XA83;J3QQY9;Q6NT09;Q9UBX8 AB024742;AB209194;ABBA01022509;ABBA01022510;AC017100;AF038664;AF069054;AF097159;AK314860;AMYH01008924;BC069620;BC069642;BC074835;BC074884;CH471088;NM_004775 AAC21570;AAC39737;AAD41695;AAH69620;AAH69642;AAH74835;AAH74884;BAA76273;BAD92431;BAG37376;EAX01267;EAX01268;EAX01269;NP_004766;Q9UBX8 Hs.591063 1646529;1675656;1685377 RH12056;RH79765;WI-13684 B4Gal-T6;beta4Gal-T6 OTTHUMP00000162821;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6;UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 6;beta-1,4-GalTase 6;beta-1,4-galactosyltransferase 6;beta4GalT-VI APPROVED protein-coding ENSG00000118276 929 06808 604017 REVIEWED 1320747 B4GALT5 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008] 20 20 q13.1-q13.2 47682889 47763745 - 48249482 48330421 - 1580863;6480464;6907045 9597550;17690104;17656364;16461357;15489334;15263012;14702039;12477932;12385586;11827452;11780052;10580128;9535717;9435216;20417617;21906983;19322201;22687727;23362303 9334 O43286;Q8WZ36 AB004550;AB067772;ABBA01052750;AF038663;AF289556;AK054803;AK056333;AL035683;AL162615;AMYH01011968;BC074821;BC074873;BC104987;BC112265;BG939833;CH471077;DR000345;NM_004776 AAC39736;AAH74821;AAH74873;AAI04988;AAI12266;AAL55740;ADR82962;BAA25006;BAC07182;EAW75653;EAW75654;NP_004767;O43286 Hs.370487 1655665;1685113;1693378;1771024;1856293;2122545;2160079 AL022254;AL034501;RH34;RH47120;RH66750;Z94405;Z94493 B4Gal-T5;BETA4-GALT-IV;MGC138470;beta4Gal-T5;beta4GalT-V;gt-V OTTHUMP00000031806;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5;UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5;beta-1,4-GalT II;beta-1,4-GalT IV;beta-1,4-GalTase 5;beta-1,4-galactosyltransferase 5;beta-1.4-galactosyltransferase V;beta4-GalT IV APPROVED protein-coding ENSG00000158470 928 06807 604016 VALIDATED 4144528 BAATP1 bile acid CoA: amino acid N-acyltransferase pseudogene 1 9 9 9 q31.1 74609971 74615238 - 103136195 103141450 - 104096374 104101629 - 17116739;18538142;20210993 347275 ABBA01042875;AL359893;AMYH01021578;NG_023464 1339902;1759121 D9S1690;SHGC-152828 ACNATP;FLJ20300 pseudo 34504 INFERRED 2881130 BACE1-AS BACE1 antisense RNA 11 q23.3 117162062 117162859 + 10737800;18587408;21785702;20507594 100379571 ABBA01039729;AMYH01004062;AP000892;BF886632;CB960709;NR_037803 Hs.736305 BACE1-AS1;BACE1AS;FJ573250;NCRNA00177 APPROVED miscrna 37125 614263 VALIDATED 1354325 B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009] 5 5 q35.2-q35.3 176959778 176969937 + 177027119 177037348 + 1599433;1580863;6480464;6907045;7240710 10473568 15522873;10506123;16583246;10438455;18158310;15489334;14702039;12975309;12477932;10894925;10580128;3631078;20809901;20843813;20691685 11285 D6RA33;D6RDJ8;D6RJI5;H0Y9D6;Q9UBV7 AB028600;ABBA01033449;AC139795;AF142675;AJ005382;AK022566;AK023506;AK095882;AK123092;AMYH01015877;AY358578;BC007317;BC062983;BC072403;CH471195;CS488894;NG_015977;NM_007255 AAF22225;AAH07317;AAH62983;AAH72403;AAQ88941;ABM83936;ABM87255;BAA83414;BAG51093;BAG51201;BAG53157;CAB56424;CAM55968;EAW84964;EAW84965;NP_009186;Q9UBV7 Hs.455109 2107877;2148552;5016405 B4GALT7_9257;RH78007;SHGC-56917 B4GAL-T7;EDSP1;XGALT-1;XGALT1;XGPT1;beta4Gal-T7 OTTHUMP00000161440;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7;beta-1,4-GalTase 7;beta-1,4-galactosyltransferase 7;beta-1,4-galactosyltransferase VII;beta4Gal-T7;beta4GalT-VII;galactosyltransferase I;proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I APPROVED protein-coding ENSG00000027847 930 05060 130070;604327 REVIEWED 1352744 BACE2-IT1 BACE2 intronic transcript 1 (non-protein coding) q22.2 282569 AL773572 C21orf75;NCRNA00228;PRED43 APPROVED miscrna 16024 1603296 B9D2 B9 protein domain 2 This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009] 19 19 19 q13.2 38660483 38669951 - 46552166 46561877 - 41860322 41870078 - 6480464 19208769;18936436;17127412;16344560;16341674;12477932;8889548;18287022;19692168;17207965;21054877 80776 M0QY88;Q9BPU9 ABBA01040805;AC011462;AMYH01009819;BC004157;BC004444;BM833644;BU609059;CH471126;DA196504;NG_013091;NM_030578 AAH04157;AAH04444;ADQ32833;EAW57034;NP_085055;Q9BPU9 Hs.567596 ICIS-1;MGC4093;MKS10;MKSR2 B9 domain-containing protein 2;MKS1-related protein 2;involved in cIlia stability-1 APPROVED protein-coding ENSG00000123810 28636 14613 611951;614175 REVIEWED 6481039 BACH1-IT2 BACH1 intronic transcript 2 (non-protein coding) 100874322 AP000240 miscrna 40007 1349420 BACH1-IT3 BACH1 intronic transcript 3 (non-protein coding) q22.11 54147 AA843704;BX100223 Hs.124532 C21orf8;NCRNA00097 APPROVED miscrna 16455 736795 BAALC brain and acute leukemia, cytoplasmic This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008] 8 8 q22.3 104222097 104311709 + 104152921 104242533 + 632264;6480464 11707601 22488406;22529287;18752846;18671757;18378853;17646667;16189514;15749074;15604894;15489334;14702039;12477932;19555438;18029348;19943049;20065290;20306678;20535151;20495894;20841507;21967978;21835957;22197554;22493267;23275563;23287429 79870 Q8WXS3 ABBA01037630;ABBA01037631;AC025370;AF363578;AF371319;AF371323;AK022077;AK093819;AMYH01018944;AP003550;BC011517;BC014365;BC035038;BI548687;CH471060;NM_001024372;NM_024812 AAH11517;AAH35038;AAL50377;AAL50378;AAL50379;AAL50380;AAL50381;AAL50382;AAL50515;AAL50519;ABM84244;ABM87632;BAB13960;EAW91862;EAW91863;EAW91864;EAW91865;NP_001019543;NP_079088;Q8WXS3 Hs.533446 1688243;1699054;1715595;1727095;1740189;1764079;2140984;2165994;2171061 D8S1390E;D8S1692;D8S1977;G62950;RH103102;RH120941;RH98648;SHGC-147735;STS-AA018831 FLJ12015 OTTHUMP00000227493;OTTHUMP00000227494;OTTHUMP00000227495;brain and acute leukemia cytoplasmic protein APPROVED protein-coding ENSG00000164929 14333 09422 606602 REVIEWED 735913 BAAT bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 q22.3 103162890 103187108 - 104122699 104147287 - 734629;1580863;69770;6480464;6907045;7240710 12704386;7575455 8034703;2037576;18793185;17495420;17256745;15489334;15164053;12810727;12763038;12477932;12239217;10884298;8954802;10574970;18029348;16712791;20677014;20178365;22783059 570 Q14032 ABBA01042874;AK315347;AL353621;AL359893;AMYH01021579;BC009567;BC039200;BC107424;BG565737;CB154234;CH471105;CR541918;H62757;L34081;NG_009774;NM_001127610;NM_001701 AAC37550;AAH09567;AAI07425;ABM82836;ABM86021;CAG46716;EAW58943;EAW58944;EAW58945;EAW58946;NP_001121082;NP_001692;Q14032 Hs.284712 1672412;1769318;2142406;5106212 D9S1952;RH16182;RH45350;STS-L34081 BACAT;BAT;FLJ20300;MGC104432 OTTHUMP00000021802;bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase);bile acid-CoA:amino acid N-acyltransferase;bile acid-coenzyme a: amino acid n-acyltransferase;long-chain fatty-acyl-CoA hydrolase APPROVED protein-coding ENSG00000136881 932 08376 602938;607748 REVIEWED 1602893 BABAM1 BRISC and BRCA1 A complex member 1 19 19 19 p13.11 17279989 17291905 + 17239232 17251162 + 17378232 17390162 + 6480464 19261748;19261749;19261746;19214193;17353931;16381901;16189514;15489336;12477932;11230166;11076863;11042152;8125298;20852631;19572197;19615732;20852633;21282113;22863883;22990118;22939629;21431873;16196087;23544013;20656689;21987572;22331459;21139048;21890473;21906983;21044950;22792303;21963094;22357538;23000965;23535730;19380743;22505724 29086 J3KQS6;M0QX07;M0QY17;M0QYV1;M0QZ44;M0R0I0;M0R193;M0R2A4;M0R2I2;M0R2K3;M0R3F4;M0R3H9;Q9NWV8 ABBA01051189;ABBA01051190;ABBA01051191;AC010463;AC104522;AF161491;AJ572521;AK000578;AK025970;AK225047;AK301193;AK308590;AL136692;AMYH01009570;BC000788;BC006244;BC091491;CH471106;CR533526;NM_001033549;NM_014173 AAF29106;AAH00788;AAH06244;AAH91491;BAA91268;BAG62773;CAB66627;CAG38557;CAL38513;CAL38600;EAW84584;EAW84585;NP_001028721;NP_054892;Q9NWV8 Hs.190722 1665927;1773023;1847602;2175025 A002Q23;RH11746;SGC31836;WI-11438 C19orf62;FLJ20571;HSPC142;MERIT40;NBA1 BRCA1-A complex subunit MERIT40;BRISC and BRCA1-A complex member 1;hspc142 protein;mediator of RAP80 interactions and targeting subunit of 40 kDa;mediator of Rap80 interactions and targeting 40 kDa;new component of the BRCA1 A complex;new component of the BRCA1-A complex;new component of the BRCAA1 A complex APPROVED protein-coding ENSG00000105393 25008 13702 612766 VALIDATED 1606566 BACE1 beta-site APP-cleaving enzyme 1 Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein (APP) by two proteases, one of which is the protein encoded by this gene. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease that is found mainly in the Golgi. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] 11 11 q23.2-q23.3 116661624 116692182 - 117156402 117186972 - 6480464;6907045 10531052;10591214;15080893;12354787;10887202;19429494;19344981;19302194;19251705;19196715;19153172;19106624;19074428;19057901;19056495;19011241;18977241;18805488;18798280;18790604;18695061;18660751;18650447;18632981;18587408;18581272;18434550;18393796;18378702;18374657;18307033;18263584;18182766;18182389;18177262;18163181;18039469;17961921;17897958;17854420;17699523;17596706;17576410;17511654;17425515;17409228;17331621;17307738;17293612;17236572;17174011;17113083;16979658;16965550;16908986;16897184;16816111;16757811;16716081;16679558;16611980;16605258;16449801;16354928;16342950;16303743;16279945;16249081;17601350;16246054;16243299;16181410;16033761;16027115;15931081;15886016;15880353;15857888;15824102;15784960;15671026;15628850;15615712;15606899;15592644;15584902;15491607;15489334;15485862;15466887;15452128;15451669;15286784;15247262;15234966;15213451;15211591;15197182;15096037;15059977;15059975;15034149;14991462;14978286;14748707;14748006;14701757;14699153;14681914;14567678;14507929;12928915;12901838;12857759;12824768;12801932;12707937;12665519;12649271;12618121;12586838;12586836;12535780;12514700;12477932;12471021;12445809;12438920;12270690;12223024;12206667;12135764;12112088;12093293;12054559;12054507;11953458;11922623;11860271;11847218;11744168;11741910;11714100;11684351;11516562;11466313;11278841;11266439;11234778;11152683;11032903;11021803;22299711;22306812;22351782;10956649;10801872;10749877;10677483;10656250;10591213;10574461;22491325;20685197;19372755;20354142;20484053;20930286;21245145;20164582;20236612;15749709;16769154;18255190;19405102;19462468;19508864;19682432;19815556;19827607;19889475;19968762;20041192;20066010;20080541;20089133;20127045;20212127;20455082;20468060;23324234;20930275;20849576;20946940;20806954;22728099;20726888;20853423;21695060;21209097;20607864;21500352;23024787;23048024;23109336;21576249;21642424;21712774;20854419;21942621;21585286;21825135;22846573;21726644;22988240;23142975;21707077;21779381;21795680;22045484;22975420;23180460;22122287;22122349;22150401;22275252;22178568;22796214;23504710;21354237;22267734;22223639;21321391;21440067;21565331;22194329;15117318;22052506;22450048;22303960;22879628;22553349;23344193;22709416;22726800;22721728;23202730;22952813;23021373;23036978 23621 B7Z3K2;B7Z3Z4;E9PJG7;H0YDX0;H0YF38;Q5W9H2;Q9UJT5 AB032975;AB050436;AB050437;AB050438;AB089958;AB177847;ABBA01039728;ABBA01039729;AF161367;AF190725;AF200193;AF200343;AF201468;AF204943;AF324837;AF338816;AF338817;AF527782;AK075049;AK296015;AK296535;AL833810;AMYH01004062;AP000892;AY162468;BC036084;BC065492;BM996673;BQ005204;CH471065;CS027018;DC343475;DQ007053;EF444940;NG_029372;NM_001207048;NM_001207049;NM_012104;NM_138971;NM_138972;NM_138973 AAF04142;AAF13715;AAF17079;AAF18982;AAF26367;AAF28927;AAH36084;AAH65492;AAK38374;AAK38375;AAM54050;AAM92013;AAO23912;AAY16982;ABM82435;ABM85626;ACA05927;BAA86463;BAB40931;BAB40932;BAB40933;BAC81826;BAD66825;BAG52056;BAH12238;BAH12380;CAD38674;CAI61888;EAW67308;EAW67309;EAW67310;EAW67311;EAW67312;EAW67313;EAW67314;EAW67315;EAW67316;EAW67317;NP_001193977;NP_001193978;NP_036236;NP_620427;NP_620428;NP_620429;P56817 Hs.504003 1651212;1669421;1671854;1674127;1736166;1736174;1769026;1795412;2115802;2117593;2117595;2118460;2122852;2135576;2164459;2164461;5093878 A005A12;A005U47;A009Y15;BACE_290;D11S2254E;D11S2277E;D11S2294E;D11S2298E;G20259;G20524;G32977;IB1111;RH12629;RH46256;WI-14206;WI-15498;WI-18163 ASP2;BACE;FLJ90568;HSPC104;KIAA1149 APP beta-secretase;OTTHUMP00000218630;OTTHUMP00000218631;OTTHUMP00000218632;OTTHUMP00000218633;OTTHUMP00000218635;OTTHUMP00000218636;OTTHUMP00000235006;OTTHUMP00000235007;asp 2;aspartyl protease 2;beta-secretase 1;beta-secretase 1 precursor variant 1;beta-site APP cleaving enzyme 1;beta-site amyloid beta A4 precursor protein-cleaving enzyme;beta-site amyloid precursor protein cleaving enzyme 1;memapsin-2;membrane-associated aspartic protease 2;transmembrane aspartic proteinase Asp2 APPROVED protein-coding ENSG00000186318 933 07255 604252 REVIEWED 1350115 BACE2 beta-site APP-cleaving enzyme 2 This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer's disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 21 21 q22.3 41461598 41570394 + 42539728 42648524 + 1580863;6480464;6907045 12665519;10591213;12801932;10749877;10677483;19240061;19124009;18163181;17307738;17113083;16965550;16816112;16757812;16757811;16305800;16023140;15857888;15489334;15178331;14684825;12975309;12895444;12707937;12611455;12618121;12477932;12423367;12093293;11741910;11423558;11316808;11083922;10965118;10936190;10931940;10838186;10830953;10683441;10605825;8764598;12135764;19840121;20943756;19913121;20628086;19968762;20494980;12054559;14702039;15473697;17511655;21907142;18781797;23324234;21963094;22986058 25825 Q9Y5Z0 ABBA01044663;ABBA01044664;ABBA01044665;ABBA01044666;AF050171;AF117892;AF178532;AF188276;AF188277;AF200192;AF200342;AF204944;AF212252;AK023647;AK075539;AK292056;AL163284;AL163285;AL773572;AL773575;AL773578;AMYH01012262;AMYH01012263;AY358927;AY429520;AY429521;AY769996;BC014453;BC020582;BQ006998;CH471079;NM_012105;NM_138991;NM_138992 AAD45240;AAD45963;AAF13714;AAF17078;AAF26368;AAF29494;AAF35835;AAF35836;AAG41783;AAH14453;AAQ89286;AAX14808;ABM86342;ABW03781;BAC11682;BAF84745;CAB90458;CAB90554;EAX09611;EAX09612;EAX09613;NP_036237;NP_620476;NP_620477;Q9Y5Z0 Hs.43047;Hs.529408 1648860;1648862;1667036;1674840;1678345;1684762;1685816;1690171;1730704;1730869;1730902;1731168;1752761;1775672;1790639;1794002;1795410;1854823;1854825;2122524;2123100;2127787;2132888;2137294;2182568;2182965;2217758;2220504;5022223;5125160 A005R16;BACE2_712;D21S355;D21S398;D21S418E;D21S53;G20436;G35323;PLAC4_3729;PMC310729P6;RH45177;RH69858;RH76632;RH79591;RH98903;SHGC-106623;SHGC-51917;SHGC-52036;SHGC-52055;SHGC-6869;SHGC-87646;SHGC-87652;SHGC-87653;SHGC-87655;STS-AA035768;STS-T66917;STS_CEB270;UniSTS:483705;WI-11358;WI-17388 AEPLC;ALP56;ASP1;ASP21;BAE2;CDA13;CEAP1;DRAP 56 kDa aspartic-like protease;Down syndrome region aspartic protease;OTTHUMP00000109198;OTTHUMP00000109199;OTTHUMP00000109200;asp 1;aspartic-like protease 56 kDa;aspartyl protease 1;beta secretase 2;beta-secretase 2;beta-site APP cleaving enzyme 2;beta-site amyloid beta A4 precursor protein-cleaving enzyme 2;beta-site amyloid precursor protein cleaving enzyme 2;down region aspartic protease;memapsin-1;membrane-associated aspartic protease 1;theta-secretase;transmembrane aspartic proteinase Asp1 APPROVED protein-coding ENSG00000182240 934 05744 605668 REVIEWED 1319503 BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 6 6 q15 90692969 91063182 - 90636247 91006627 - 1580863;6480464 19073967;18978792;18929412;18840781;22561518;21145461;18769450;18256039;17991429;17383980;17262715;17044046;17018862;16832351;16344560;15060166;14982850;14574404;12829606;11923289;11746976;10949928;10809773;10669750;8887638;21412927;20647273;12477932;15146197;17046816;19430480;20190752;20203524;20379614;21102463;22194330;19850743;17620599;22589738;21829393;21833088;21841780;22899287;2366175;22858985;23128233;23251661;23273568;23382691;20125193 60468 Q7Z6Q0;Q9BYV9 AA885077;AB208889;ABBA01040546;ABBA01040547;ABBA01040548;AF357835;AJ271878;AK309526;AL117342;AL121787;AL121941;AL158136;AL159164;AL353692;AL512739;AMYH01016506;AMYH01016507;BC070239;CH471051;CN261405;DB077323;DB240991;HI573894;NM_001170794;NM_021813 AAI66613;AAK48898;BAD92126;CAC28130;CBX47436;EAW48530;EAW48531;EAW48532;EAW48533;EAW48534;NP_001164265;NP_068585;Q9BYV9 Hs.269764 1298111;1645990;1646943;1667667;1673765;1699082;1700886;1715697;1719763;1719777;1731403;1739079;1757687;1849489;2126107;2129817;2132948;2178674;2181219;2218290;5093886;7185100 A008R03;A009Y20;BACH2_4426;D6S1351;D6S1506;D6S366;D6S462;G17026;G17078;G32982;RH103117;RH104070;RH119295;RH123573;RH123580;RH16500;RH37451;RH65350;SGC34793;SHGC-146246;SHGC-34604 BTBD25 BTB and CNC homolog 2;OTTHUMP00000016867;OTTHUMP00000016868;transcription regulator protein BACH2 protein-coding ENSG00000112182 14078 12012 605394 VALIDATED 1315457 BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1 This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009] 21 21 q22.11 29593091 29656088 + 30671220 30734217 + 1580863;6480464;7240710 9479503;9544839;16780588;18029348;19064572;18550526;17881434;17065227;16964243;16771696;16724942;16530877;15734732;15613547;15489334;15465821;15464985;15175654;15068251;15068237;14660636;14504288;12511571;12477932;11069897;10830953;10669750;8889548;8887638;17682061;17525340;19591297;19618874;19822148;19874887;20127796;20159562;16341674;19011633;20345481;20978114;17664283;22698995;22875853;15809329;21555518;16391231;20360068;21812759;19369211;22589738;22289179;21139048;22032289;22158540;22307849 571 C9IYH8;C9IYR0;C9JMP6;F8VZL7;H7C4B6;M0QZP0;O14867;Q6ICU0 AA402241;AB002803;ABBA01057257;AF026199;AF026200;AF124731;AF317902;AF317903;AI336948;AK291021;AK313791;AL163249;AMYH01012188;AP000240;AP001705;BC063307;BM837454;BU933041;CF890820;CH471079;CR450303;DB524401;NG_029658;NM_001186;NM_206866;NR_027655 AAB84100;AAB84101;AAD14689;AAH63307;AAK08197;ABZ91995;BAA24932;BAA95505;BAF83710;BAG36528;CAB90435;CAG29299;EAX09913;EAX09914;NP_001177;NP_996749;O14867 Hs.154276 1733188;2167574;2187420 D21S1421;SHGC-30877;SHGC-87534 BACH-1 BTB and CNC homolog 1;HA2303;OTTHUMP00000096563;OTTHUMP00000096564;basic region leucine zipper transcriptional regulator BACH1;transcription regulator protein BACH1 APPROVED protein-coding ENSG00000156273 935 04127 114480;602751;609054 REVIEWED 735541 BAD BCL2-associated agonist of cell death The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Jul 2008] 11 11 q13.1 63793878 63808740 - 64037300 64052176 - 1580863;1300048;1579966;2292690;2292693;2292697;2314029;2292699;2292694;2292681;2292675;2292674;2292676;2292677;2292680;2292685;2292700;2292673;2292679;6480464;6484113;6907045 15632274;16103353;15968425;15625305;19641503;15345971;15941375;18078455;16944316;17004114;11781193;15851405;18198484;17870134;15339931;17607361;18347331 15489334;15226424;15033904;14967141;14767529;14702039;12965220;12954615;12931191;12897128;12842996;12754297;12477932;12239175;12115603;12087097;12084714;11994280;11878929;11839683;11717309;11583631;11544290;11494146;11483855;11410287;11278245;11206074;10949026;10880354;10837489;10837486;10811615;10611223;10579309;10558990;10521512;10407019;10381646;9878060;9651683;9463381;9369453;9305851;8929532;8929531;7834748;11739707;16445909;15078178;11689886;15705582;15694340;12137781;11077446;10620799;9824152;9389483;11500364;11742726;15574335;15721256;9130713;9973195;10949025;15231831;9388232;9381178;10195903;12657644;15183529;19587239;19171933;18852119;18832722;18798227;18775810;18651222;18651163;18636124;18593990;18568448;18508827;18508762;18449891;18420586;18402774;18391004;18276761;18246127;18165867;18006502;17927446;17900801;17696989;17696955;17670745;17557568;17544220;17541305;17499381;17446862;17438366;17420275;17404594;17393317;17287851;17110373;17011751;16978419;16949642;16932738;16908594;16847055;16843435;16785131;16767165;16728406;16710454;16603546;16484005;16403219;16297499;16189514;16148027;15901741;15849194;15767261;15751984;15731037;21317286;21419810;22837380;19882362;20339252;18309324;19508210;19895838;18029348;20647330;20855536;20877624;20596645;20691103;20936779;12376548;12787561;15131699;15784622;16413544;16697956;17270021;17274640;17474147;19168699;19593445;19641507;19667065;19679565;19730683;19773546;20043968;20700721;20810912;19913121;20628086;21187157;21302807;21081150;18676776;19624871;18402937;18628207;23135712;23383273;21444773;15280438;15978696;15990872;21076048;21849418;21900206;22172950;11908866;17289999;21674599;22464442;22096607;22214866;22423221;11697890;22011203;22057915;17979178;21918885;21988832;15998799;17457084;18973553;20012528;22805310;18387192 572 A8MXU7;F5GYS3;F5H1R6;F5H3B1;Q92934 AB451254;AB451378;ABBA01003295;ABBA01003296;AF021792;AF031523;AK023420;AK291863;AK303051;AK309150;AMYH01003704;AP001453;AW014069;BC001901;BC095431;BE255791;BG435829;BG748336;BT006678;CH471076;CR541935;CR541959;NM_004322;NM_032989;U66879 AAB36516;AAB72092;AAB88124;AAH01901;AAH95431;AAP35324;ABM86710;ABW03814;BAF84552;BAG64171;BAG70068;BAG70192;CAG46733;CAG46757;EAW74233;EAW74234;EAW74235;EAW74236;NP_004313;NP_116784;Q92934 Hs.370254 1663658;1675935;1682287;1686174;1793554;2112100;2180477;2217054;5037552 BAD_2670;D11S4747;D8S2279;PMC230316P4;RH27709;RH78541;RH80230;RH80521;SHGC-64070 BBC2;BCL2L8 BCL-X/BCL-2 binding protein;BCL2-antagonist of cell death;BCL2-antagonist of cell death protein;BCL2-binding component 6;BCL2-binding protein;OTTHUMP00000165928;OTTHUMP00000165929;bcl-2 associated death agonist;bcl-2-binding component 6;bcl-2-like protein 8;bcl-XL/Bcl-2-associated death promoter;bcl2 antagonist of cell death;bcl2-L-8 APPROVED protein-coding ENSG00000002330 936 04409 603167 REVIEWED 1343744 BAG2 BCL2-associated athanogene 2 BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The predicted BAG2 protein contains 211 amino acids. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008] 6 6 6 p12.1-p11.2 58700203 58713112 + 57145293 57157694 + 57037104 57050013 + 1580863;6480464;6907045 17353931;9873016;9873015;16381901;16344560;16207813;16169850;15489336;15489334;15271996;14702039;14574404;11256614;11230166;11076863;21145461;22912744;12477932;16159877;17569659;22863883;20547759;16196087;19156129;18457437;21081666;21987572;21139048;21906983;17203973;22451720;22505724 9532 A2A296;B4DXE2;O95816 ABBA01050484;AF095192;AK001015;AK023735;AK301934;AL031321;AL050287;AL136311;AMYH01016370;BC125039;CA442969;CH471081;CR533496;DA874388;NM_004282 AAD16121;AAI25040;BAG50848;BAG51221;BAG63354;CAB43388;CAG38527;CAL37573;CAL37883;EAX04475;NP_004273;O95816 Hs.55220 1688779;1694200;1775286;2107879 AL035194;BAG2_7951;RH46599;SHGC-34200 BAG-2;KIAA0576;MGC149462;dJ417I1.2 BAG family molecular chaperone regulator 2;BAG-family molecular chaperone regulator-2;OTTHUMP00000016668;bcl-2-associated athanogene 2;dJ417I1.2 (BAG-family molecular chaperone regulator 2) APPROVED protein-coding ENSG00000112208 938 04859 603882 REVIEWED 1350570 BAG4 BCL2-associated athanogene 4 The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011] 8 8 p11.23 38153263 38187694 + 38034106 38070819 + 1580863;2292150;2325852;6480464;6484113 12655295;10799310 9915703;9873016;17366557;17178857;15489334;14559896;12875962;12706861;12477932;12058034;12017295;11527400;10508612;11909948;21145461;19913121;20628086;18029348;20855536;17605853;8889548;19322201;21139048;23190898;23341456 9530 H0YBT1;O95429 ABBA01023544;ABBA01023545;ABBA01023546;ABBA01023547;ABBA01023548;AC084024;AF095194;AF111116;AI640615;AK304072;AK314020;AL049466;AMYH01018653;BC000800;BC038505;BM683128;CH471080;NM_001204878;NM_004874 AAD05226;AAD16123;AAH38505;BAG36731;BAG64979;EAW63330;EAW63331;NP_001191807;NP_004865;O95429 Hs.194726 1645448;1684032;1735832;1795414;1856380;1856671;2160331 BAG4_88;D8S1432E;RH25151;RH78257;SGC34731;SHGC-30117;SHGC-56788 BAG-4;DKFZp586O2022;SODD BAG family molecular chaperone regulator 4;BAG-family molecular chaperone regulator-4;OTTHUMP00000225745;OTTHUMP00000225746;bcl-2-associated athanogene 4;silencer of death domains APPROVED protein-coding ENSG00000156735 940 04861 603884 REVIEWED 1317192 BAG3 BCL2-associated athanogene 3 BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008] 10 10 q25.2-q26.2 121400872 121427321 + 121410882 121437331 + 1580863;2325847;2325848;2325843;6480464;7240710 11513873 22734908;22302993;10597216;9873016;19352495;19212330;19111544;19088197;19085932;18821563;18469860;18286539;18094623;18006506;17996194;17974966;17507989;17187345;17164298;17081983;16964243;16859681;16391524;16189514;16094384;15592455;15489334;15302935;12750378;12706811;12700638;12477932;11591653;10980614;8125298;11527400;21459883;21252941;21316839;19913121;20628086;20535599;20936779;20605452;20800573;21451574;21472004;19777443;16385451;19282432;19615732;19845507;19850283;20018251;20232307;20368414;20607728;20800603;20819778;20855536;21233200;21353195;20060297;21423662;20811636;22863883;22939629;23824909;22984599;23434281;20723284;21767525;18457437;21903422;22020323;18029348;19144635;21302292;21561597;21139048;21890473;22072743;17623298;21683594;21971866;22310281;21850027;19229298;21044950;21696420;21898660;20301486;21963094;23000965;23341456;20884878;23667531;23395971;21361913;22944597 9531 C9JFK9;O95817 ABBA01062888;ABBA01062889;AC012468;AF071218;AF095193;AF127139;AK222800;AK291333;AK313026;AL137582;AMYH01003116;AMYH01003117;BC006418;BC014656;BC107786;CH471066;NG_016125;NM_004281 AAD16122;AAF26839;AAF69592;AAH06418;AAH14656;AAI07787;ABM84342;ABM87771;BAD96520;BAF84022;CAB70824;EAW49382;EAW49383;NP_004272;O95817 Hs.523309 1665119;2107881;2148028 BAG3_7950;Bda24g05;D10S2397 BAG-3;BIS;CAIR-1;MFM6;MGC104307 BAG family molecular chaperone regulator 3;BAG-family molecular chaperone regulator-3;BCL2-binding athanogene 3;OTTHUMP00000020599;bcl-2-associated athanogene 3;bcl-2-binding protein Bis;docking protein CAIR-1 APPROVED protein-coding ENSG00000151929 939 04860 603883;612954;613881 REVIEWED 1313091 BAG1 BCL2-associated athanogene The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. Multiple protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) initiation codon, and three alternative downstream AUG initiation codons. A related pseudogene has been defined on chromosome X. [provided by RefSeq, Feb 2010] 9 9 p12 33242469 33254761 - 33252469 33264759 - 1580863;2292908;2296021;2293888;2293886;2293889;2293885;6480464;6907045 18430249;12215270;11181661;15297164;10047462;17503439 17662274;17657847;17549665;17278878;16482527;16457154;16381901;16292491;16042572;15986447;15843891;15831476;15707960;15489336;15489334;15309313;15199607;15169918;15075668;14978028;14702039;14680805;14532969;14517289;12874020;12845674;12724406;12477932;12402153;12049201;11994280;11741305;11676916;11340068;11278763;11256614;11231577;11101523;11076863;10967105;10816573;10671488;10477749;10467399;9873016;9679980;9642262;9603979;9582267;9396724;9305631;8812483;8692945;8524784;8125298;7834747;9565586;15603737;11222862;8947043;18029348;19595997;19317853;19293798;19151744;19066611;18822299;18805052;18684711;18523358;18413740;18204076;17954934;17950682;17700523;17693608;22863883;20409521;12853476;19243896;19546472;19778524;19881545;20096920;20156966;20237496;8889548;9747877;15538384;20819778;20855536;20858459;20675402;19913121;20628086;21036726;16398049;22939629;23059827;12297498;21195059;21522149;20404511;11257006;21809033;11520069;21986497;16207813;21157029;21890473;22016818;19800331;23322525;23533635;22179630;12421809;18388150;19229298;22439756;22939115;19060904;21988832;22454210;23000965;23178238;23049684 573 C9J9Y9;C9JYK5;F1LLU6;J3QTA2;Q9Y2V4 ABBA01065064;AF022224;AF116273;AK093238;AK096038;AK222749;AK316577;AL161445;AL356472;AMYH01019322;BC001936;BC014774;BG723775;CH471071;CN478628;NG_029018;NM_001172415;NM_004323;U46917;Z35491 AAC34258;AAD11467;AAD25045;AAH01936;AAH14774;BAD96469;CAA84624;CAL37446;EAW58514;EAW58515;EAW58516;EAW58517;NP_001165886;NP_004314;Q99933 Hs.377484 1735932;1777155;2123336;2137726;2154720;2183285;5015881;5124315 A002S09;D9S1064E;GDB:335751;RH18169;RH47281;RH69938;STS-S83171;STS-Z35491 BAG-1;HAP;RAP46 BAG family molecular chaperone regulator 1;BAG-1;Bcl-2 associating athanogene-1 protein;Bcl-2-binding protein;OTTHUMP00000021198;OTTHUMP00000021199;bcl-2-associated athanogene 1;glucocortoid receptor-associated protein RAP46;receptor-associated protein, 46-KD APPROVED protein-coding ENSG00000107262 937 03292 601497 REVIEWED 1348044 BAGE5 B melanoma antigen family, member 5 cen 12676563;12461691;7895173 85316 Q86Y27 AF339516;NM_182484 AAI56847;AAO32636;NP_872290;Q86Y27 Hs.545789 CT2.5 B melanoma antigen 5;cancer/testis antigen 2.5;cancer/testis antigen family 2, member 5 protein-coding 15732 16537 PROVISIONAL 1342618 BAGE4 B melanoma antigen family, member 4 21 21 p11.1 10042713 10120796 - 10042713 10120796 - 12676563;12461691;7895173 85317 F5GZX1;Q86Y28 ABBA01136834;AF339515;NM_181704 AAI60157;AAO32635;NP_859055;Q86Y28 Hs.545789 1737403;2137693;2149244;2187719;2218734 BAGE__4427;D13S981;D7S3206;G18004;GDB:1318392 CT2.4;MGC119851;MGC119852;MGC119853;MLL3P B melanoma antigen 4;MLL3 pseudogene;cancer/testis antigen 2.4;cancer/testis antigen family 2, member 4 protein-coding 15730 16536 PROVISIONAL 1344125 BAGE B melanoma antigen This gene encodes a tumor antigen recognized by autologous cytolytic lymphocytes (CTL). [provided by RefSeq, Jul 2008] 21 21 21 p11.1 146528012 146530023 - 10079667 10120808 - 11057796 11059817 - 6480464 18541613;15704127;12676563;12477932;12461691;12115308;7895173;20423514 574 Q13072;Q29RY1 ABBA01003660;AF499647;AF527550;AF527551;AF527552;AF527553;AF527554;BC107038;BC107039;BC113810;NM_001187;U19180 AAC50123;AAI07039;AAI07040;AAI13811;AAO32670;AAO32671;AAO32672;AAO32673;AAO32674;AAP30743;NP_001178;Q13072 Hs.545789;Hs.571595;Hs.624543 2218734;5022578;5022651;5109281;5113787 BAGE__4427;D11S2921;D1S1423;D1S1425;RH79776 BAGE1;CT2.1 B melanoma antigen 1;antigen MZ2-BA;cancer/testis antigen 2.1;cancer/testis antigen family 2, member 1 APPROVED protein-coding 942 05523 605167 REVIEWED 1321985 BAG5 BCL2-associated athanogene 5 The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q32.33 84077135 84083397 - 103092642 103098904 - 104022881 104029151 - 1580863;6480464 9873016;15603737;15489334;14702039;12477932;10048485;9321400;8125298;7834747;21145461;19913121;20628086;19615732;16344560;20819778;20855536;22863883;21358815;21131737;21139048;20473970;19001729 9529 G3V274;Q9UL15 AA481394;AB020680;ABBA01048422;AF095195;AK001378;AK023145;AK225730;AK225741;AK291312;AL139300;AMYH01006048;BC044216;BC050551;BF941752;BG719955;BI561258;CA424706;CH471061;DB022769;DB457402;NM_001015048;NM_001015049;NM_004873 AAD16124;AAH44216;AAH50551;BAA74896;BAF84001;EAW81826;EAW81827;EAW81828;NP_001015048;NP_001015049;NP_004864;Q9UL15 Hs.5443 1648326;1855116;1856677;2217056;5015961 BAG5_3934;D14S1221;D15S1477;RH48083;RH69364 BAG-5 BAG family molecular chaperone regulator 5;BAG-family molecular chaperone regulator-5;OTTHUMP00000246786;OTTHUMP00000246787;OTTHUMP00000246788;bcl-2-associated athanogene 5 APPROVED protein-coding ENSG00000166170 941 04862 603885 REVIEWED 1313737 BAI1 brain-specific angiogenesis inhibitor 1 Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. In order to obtain blood supply for their growth, tumor cells are potently angiogenic and attract new vessels as results of increased secretion of inducers and decreased production of endogenous negative regulators. BAI1 contains at least one 'functional' p53-binding site within an intron, and its expression has been shown to be induced by wildtype p53. There are two other brain-specific angiogenesis inhibitor genes, designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is postulated to be a member of the secretin receptor family, an inhibitor of angiogenesis and a growth suppressor of glioblastomas [provided by RefSeq, Jul 2008] 8 8 q24.3 143542379 143623370 + 143545377 143626368 + 1580863;6480464;6907045 14980512;9647739;9790924;10343108;11245925;7531056;15203201;14702039;12543931;12507886;12074842;11937501;11875720;10748157;9772287;9533023;9393972;19615732;21724586;22330140;23595754 575 E5RG74;O14514 AB005297;ABBA01029407;ABBA01029408;ABBA01029409;ABBA01029410;AC139676;AK123982;AMYH01019085;AMYH01019086;AMYH01019087;AMYH01019088;CH471162;NM_001702 AAI56201;BAA23647;EAW82323;NP_001693;O14514 Hs.194654 2151185 GDB:314333 FLJ41988;GDAIF OTTHUMP00000227339;OTTHUMP00000227746;brain-specific angiogenesis inhibitor 1 APPROVED protein-coding ENSG00000181790 943 04062 602682 REVIEWED 1345980 BAHD1 bromo adjacent homology domain containing 1 15 15 15 q15.1 17499558 17526585 + 38520703 38547733 + 40733411 40760441 + 737633;1580863;6480464 12477932 16189514;12421765;10231032;8889548;19913121;20628086;21252314;19666599;21900206 22893 Q8TBE0 AB023162;ABBA01038449;AC013356;AL833923;AMYH01006561;BC022782;BU740533;CH471125;NM_014952 AAH22782;ADZ15491;BAA76789;CAD38779;EAW92416;EAW92417;EAW92418;NP_055767;Q8TBE0 Hs.22109 1667845;1683120;2107883;2111232 BAHD1_9281;D15S486;RH91414;STS-N50033 KIAA0945 BAH domain-containing protein 1;OTTHUMP00000160443;bromo adjacent homology domain-containing 1 protein protein-coding ENSG00000140320 29153 12518 613880 VALIDATED 1351944 BAGE3 B melanoma antigen family, member 3 21 21 p11.2 11020842 11058323 - 11020842 11058323 - 12676563;12477932;12461691;7895173;16009131;17803354 85318 Q86Y29 AF339514;BC101134;NM_182481 AAI01135;AAO32634;NP_872287;Q86Y29 Hs.545789 2149244;2187719;2218734 BAGE__4427;D7S3206;GDB:1318392 CT2.3 B melanoma antigen 3;cancer/testis antigen 2.3;cancer/testis antigen family 2, member 3 protein-coding 15728 10685 PROVISIONAL 733092 BAG6 BCL2-associated athanogene 6 This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 p21.3 31714784 31728456 - 31606805 31620477 - 1580863;6480464 14667819;15231747;17353931;19115949;19018758;18978787;18852879;18835879;18765639;18757527;18056262;18055229;17672918;17403783;17081983;16964243;16954377;16777091;16713569;16189514;16169070;15489334;15302935;15231748;14960581;14656967;14574404;12477932;11587531;11584289;11230127;10390159;2911734;2813433;2156268;1684176;15451437;20676083;19913121;20587610;20626023;20628086;16344560;20800603;17643375;19242354;19357808;19615732;19654303;19836008;19837266;19851445;19955392;20098615;20106900;20385987;20453000;20516149;20713601;16196087;22863883;23129660;23383273;23077592;23455924;23665563;22174835;22285488;23894747;18781797;19815544;21726808;21900206;21903422;21940994;21987572;19542561;12938929;21139048;21890473;21906983;21636303;22558287;21909115;22779921;22641691;22373577;19738201;21963094;21988832;22053931;23000965;23246001;23349634;17203973;23533635;22863785;22190034;22505724;22797925 7917 B0UX83;F6RG75;F6S6P2;F6TC96;F6U1F2;F6U341;F6UR09;F6VEM6;F6WML8;F6X9W3;F6XTU0;H0Y4L1;H0Y583;H0Y710;H0Y759;H0Y7K4;Q5SQ41 ABBA01038083;ABBA01038084;AF129756;AK302695;AK304879;AL662801;AL662847;AL670886;AL805934;AMYH01016217;AU134255;BA000025;BC003133;BF515863;BU628873;BX384328;BX511262;BX647244;CH471081;CR354443;CR753842;CR753892;CR759761;CX758454;DB454794;DB459208;DB492350;M33519;M33520;M33521;NM_001098534;NM_001199697;NM_001199698;NM_004639;NM_080702;NM_080703 AAA35587;AAA35588;AAD18085;AAH03133;BAB63390;BAG63924;BAG65616;CAI46045;EAX03453;EAX03454;EAX03455;EAX03456;EAX03457;EAX03458;EAX03459;EAX03460;NP_001092004;NP_001186626;NP_001186627;NP_004630;NP_542433;NP_542434;P46379 Hs.440900 1786108;2106193;2106195;2142964;2150577;2189745;5491655;5492039 AA900379;D6S2784;K11;MARC_5411-5412:996690356:1;N3_2_3;RH35871;RH71456;SHGC-172531 BAG-6;BAT3;D6S52E;G3 BAG family molecular chaperone regulator 6;HLA-B associated transcript 3;HLA-B associated transcript-3;HLA-B-associated transcript 3;OTTHUMP00000029237;OTTHUMP00000029238;OTTHUMP00000029239;large proline-rich protein BAG6;large proline-rich protein BAT3;protein G3;protein Scythe;scythe APPROVED protein-coding ENSG00000204463 13919 00808 142590 REVIEWED 1349446 BAGE2 B melanoma antigen family, member 2 21 21 21 p 146484599 146528514 - 11020842 11058323 - 11020842 11098925 - 18074101;16963709;15489334;12909339;12676563;12477932;12461691;17803354 85319 Q86Y30 AF218570;AF254983;AK292540;AMYH01012129;BC101132;BC101133;NM_182482 AAI01133;AAI01134;AAI72334;AAL55648;BAF85229;NP_872288;Q86Y30 Hs.545789 1768780;2149244;2187719;2218734 BAGE__4427;D7S3206;GDB:1318126;GDB:1318392 CT2.2 B melanoma antigen 2;cancer/testis antigen 2.2;cancer/testis antigen family 2, member 2 protein-coding 15723 16535 VALIDATED 1606249 BAHCC1 BAH domain and coiled-coil containing 1 17 17 17 q25.3 76011627 76080540 + 76987561 77047953 + 79373540 79433358 + 6480464 14702039;12477932;10819331;12421765 57597 F8WBW8;I3L2T4;Q9P281 AB040880;ABBA01032144;ABBA01032145;ABBA01032146;ABBA01032147;AC110285;AC139149;AC153475;AC213194;AF086116;AK026711;AK056636;AL713748;AMYH01008711;AMYH01008712;AMYH01008713;AMYH01008714;BC033222;BC050673;CH471099;NM_001080519 AAH33222;BAA95971;BAB15535;EAW89652;NP_001073988;Q9P281 Hs.514580 1672230;1677320;2191437 MARC_21859-21860:1027094458:1;RH48026;RH99048 BAHD2;FLJ23058;KIAA1447 BAH and coiled-coil domain-containing protein 1;BAH domain-containing protein 2;bromo adjacent homology domain-containing protein 2 protein-coding ENSG00000171282 29279 INFERRED 1319770 BAI2 brain-specific angiogenesis inhibitor 2 BAI1, a p53-target gene, encodes brain-specific angiogenesis inhibitor, a seven-span transmembrane protein and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008] 1 1 1 p35 30461955 30498884 - 31965305 32002235 - 32192718 32229648 - 1580863;6480464 14697242;12218411;15203201;16710414;16344560;14702039;12543931;12508107;12477932;10964907;9533023;20367554;16169070;16412436;20677014;21787750 576 A2A3C1;A2A3C2;A2A3C3;A2A3C4;A2A3C6;B4DKC3;E9PND1;O60241 AB005298;AB065648;ABBA01023452;ABBA01023453;AC114488;AK123392;AK294361;AK294999;AK296502;AK307805;AL354919;AMYH01000460;BC009035;BC014780;BC136533;BE379230;CH471059;DA314854;NM_001703 AAH09035;AAI36534;BAA25362;BAC05874;BAG57625;BAG58063;BAG59135;EAX07589;EAX07590;EAX07591;EAX07592;EAX07593;EAX07594;NP_001694;O60241 Hs.524138 1656178;1665645;2117936;2217058 BAI2_3938;G06240;IB428;STS-G06240 Brain-specific angiongenesis inhibitor-2;OTTHUMP00000003957;OTTHUMP00000195038;OTTHUMP00000195040;OTTHUMP00000195041;OTTHUMP00000195042;OTTHUMP00000228424;OTTHUMP00000228425;brain-specific angiogenesis inhibitor 2 APPROVED protein-coding ENSG00000121753 944 04063 602683 REVIEWED 1320187 BAI3 brain-specific angiogenesis inhibitor 3 This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008] 6 6 6 q12 69732521 70486170 + 69402353 70156124 + 69345632 70099403 + 1580863;6480464 15203201;19240061;18628273;15489334;12477932;12168954;9628581;9533023;20379614;20339536;19913121;20628086;20677014;20946148;21262840;21829377;22158540;22219177 577 B7Z1K0;J3KMY8;O60242 AB005299;AB011122;ABBA01008896;ABBA01008897;ABBA01008898;ABBA01008899;ABBA01008900;ABBA01008901;ABBA01008902;ABBA01008903;ABBA01008904;ABBA01008905;ABBA01008906;ABBA01008907;AK289696;AK293560;AK295516;AK316174;AL035469;AL078598;AL133378;AL158051;AL160401;AL356117;AL359714;AL391807;AL589875;AMYH01016410;AMYH01016411;AMYH01016412;BC111720;CH471051;CR740925;DB446627;NM_001704 AAI11721;BAA25363;BAA25476;BAF82385;BAH11536;BAH12092;BAH14545;EAW48836;EAW48837;NP_001695;O60242 Hs.13261 1334986;1337517;1338719;1656493;1685177;1685988;1708134;1715561;1735618;1750071;1851901;1852548;2126342;2161945;2217060;5494100 BAI3_3939;D6S1150E;D6S1225E;D6S1406;D6S1619;D6S1903;D6S467;D6S965;RH120922;RH15836;RH18425;RH25141;SHGC-112231;SHGC-3712;SHGC-81469;fd06g06.y1 KIAA0550;MGC133100 OTTHUMP00000016691;brain-specific angiogenesis inhibitor 3;dJ91B17.1 (brain-specific angiogenesis inhibitor 3) APPROVED protein-coding ENSG00000135298 945 04064 602684 REVIEWED 2303670 BAIAP2-AS1 BAIAP2 antisense RNA 1 (head to head) 17 17 17 q25.3 75630453 75636018 - 76618097 76622255 - 79002933 79008519 - 16303743;14702039;12477932 440465 Q8NBT7 ABBA01032123;AC127496;AK027350;AK056555;AK075238;AK096609;AK124762;AMYH01008703;BC110822;CH471099;CQ783882;NR_026857 BAC11491;CAF86906;EAW89624 Hs.448889 2172023;5020274 A006D02;L18441 FLJ14444;FLJ31993;FLJ39290;FLJ42772;MGC131745 APPROVED miscrna ENSG00000226137 44342 13544 VALIDATED 1352173 BAK1P2 BCL2-antagonist/killer 1 pseudogene 2 11 11 11 q24.3 127584325 127586436 - 129920548 129922859 - 130415438 130417549 - 7715731 601 ABBA01023044;AMYH01004130;AP004371;NG_005599;U16813 BAK3;BAK3P;BCL2L7P2 APPROVED pseudo 997 INFERRED 1343125 BAK1P1 BCL2-antagonist/killer 1 pseudogene 1 20 20 q11.21 30740393 30742517 - 31276732 31278856 - 1580863 7715731;11780052;21048031;21139048 600 Q5HCI0 ABBA01019257;AMYH01011850;BX640505;NG_000850;U16812 AAA74467 1684830 RH64934 BAK2;BCL2L7P1;Bak-2;DKFZp686D0345 APPROVED pseudo 996 INFERRED 1342805 BAIAP2L2 BAI1-associated protein 2-like 2 The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012] 22 22 22 q13.1 22282641 22311373 - 36810842 36836622 - 38480896 38506676 - 6480464 18029348;15489334;12975309;12477932;10591208;22318606 80115 B0QYF0;Q6UXY1;Q9H661 ABBA01055502;ABBA01055503;ABBA01055504;ABBA01055505;AK026235;AK026263;AL022322;AL031587;AMYH01012758;AMYH01012759;AMYH01012760;AW007403;AY358164;CH471095;NG_033059;NM_025045 AAQ88531;ADZ16019;BAB15405;EAW60216;EAW60217;NP_079321;Q6UXY1 Hs.474822 1657752;1682001;1690886;1754415;1796518;2148214;5019571 AU047468;PLA2G6_1043;RH66642;RH93923;RH99077;SHGC-132435;SHGC-31786 FLJ22582 BAI1-associated protein 2-like protein 2;OTTHUMP00000199353;brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2;pinkbar;planar intestinal- and kidney-specific BAR domain protein protein-coding ENSG00000128298 26203 07997 REVIEWED 6483484 BANCR BRAF-activated non-protein coding RNA 9 71911597 71921972 - 22673151;22581800 100885775 AA442062;AA442164;AA992895;ABBA01033807;AI394221;AI472919;AL355140;AMYH01021384;BG193679;N98863;NR_047671;W58600 Hs.49768 LINC00586 miscrna 43877 VALIDATED 1318052 BAIAP3 BAI1-associated protein 3 This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 16 16 16 p13.3 1598966 1613557 + 1324664 1339443 + 1383606 1399442 + 6480464 9790924;16381901;15616553;15489336;15489334;12477932;12168954;11230166;11157797;11076863;9872452;9110174;8619474;12498718 8938 A2A2B2;H3BPP9;H3BV46;H3BVI3 AB018277;ABBA01030310;ABBA01030311;AE006467;AF038191;AK294491;AK294576;AK294744;AK295645;AK299309;AK299358;AK315059;AL031709;AL834321;AMYH01007031;AMYH01007032;BC104966;BC112129;BF448577;CH471112;DC318470;NM_001199096;NM_001199097;NM_001199098;NM_001199099;NM_003933 AAI04967;AAI12130;AAK61275;BAA34454;BAG37534;BAG57713;BAG57768;BAG57886;BAG58515;BAG61321;BAG61353;CAH56376;CAL38712;EAW85670;EAW85671;EAW85672;NP_001186025;NP_001186026;NP_001186027;NP_001186028;NP_003924;O94812 Hs.458427 1656992 RH70716 BAP3;KIAA0734;MGC138334 BAI-associated protein 3;BAI1-associated protein 3;OTTHUMP00000045501;OTTHUMP00000158651 APPROVED protein-coding ENSG00000007516 948 04925 604009 REVIEWED 1350560 BANF1P1 barrier to autointegration factor 1 pseudogene 1 14 14 q24.1 49464173 49464870 + 69403264 69403961 + 9740667 317687 ABBA01023683;AL117694;AMYH01005821;NG_002455;NG_029480 BCRG1;BCRP1;D14S1460;D14S1460E pseudo 20252 INFERRED 6482636 BANF1P3 barrier to autointegration factor 1 pseudogene 3 2 231589467 231590194 - 100505506 ABBA01050113;AC084031;AMYH01011552;NG_029257 1645935;1678945 G06903;RH69702 pseudo 43883 INFERRED 1348743 BANF1P2 barrier to autointegration factor 1 pseudogene 2 10 q26.3 135157764 135158505 - 414169 ABBA01006213;AL360181;AMYH01003237;NG_029687 BANF1L1;bA122K13.8 APPROVED pseudo 23426 INFERRED 732926 BAIAP2 BAI1-associated protein 2 The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009] 17 17 q25 76623557 76705827 + 79008947 79091232 + 1580863;6480464;6484113 10343108;19286134;19193906;19054385;18417251;17371834;17115031;17003044;16713569;16702231;16189514;15673667;15635447;15592455;15489334;15324660;15289329;14752106;14702039;14667819;14596909;12884081;12598619;12504591;12477932;12054568;11696321;11157984;11130076;10814512;10460236;10332026;8125298;16169070;17353931;21542353;18029348;18215522;19171758;19460367;19733838;19762983;19933840;20360004;20678498;20936779;20418908;16712791;20621182;20888579;19366662;21832049;21814501;21893288;17361185;19953087;21139048;21555454;21906983;22179776;17979178;21988832;22767515;23000965;20585556 10458 B4DWA1;F8W878;I3L0M4;I3L0Y9;I3L113;I3L125;I3L1C8;I3L2J6;I3L2M4;I3L327;I3L3C5;I3L3C6;I3L3J7;I3L4A3;I3L4C2;I3L526;Q9UQB8 AB015019;AB015020;AB017119;AB017120;AB104726;ABBA01032123;AC115099;AC127496;AK023688;AK056888;AK222670;AK225612;AK297644;AK298629;AK301436;AMYH01008704;AMYH01008705;AMYH01008706;BC002495;BC014020;BC032559;CB153324;CH471099;NG_029486;NM_001144888;NM_006340;NM_017450;NM_017451;U70669 AAB93497;AAH14020;AAH32559;ABM84382;ABM87328;BAA36586;BAA36587;BAA74773;BAA74774;BAC57945;BAC57946;BAC57947;BAC57948;BAD96390;BAG51821;BAG60012;BAG60805;BAG62963;EAW89625;EAW89626;EAW89627;EAW89628;NP_001138360;NP_006331;NP_059344;NP_059345;Q9UQB8 Hs.128316 1656532;1680523;1697596;1758653;1783506 RH102309;RH15981;RH36794;SHGC-147371;SHGC-149058 BAP2;FLAF3;IRSP53 BAI-associated protein 2;IRS-58;IRSp53/58;brain-specific angiogenesis inhibitor 1-associated protein 2;fas ligand-associated factor 3;insulin receptor substrate p53;insulin receptor substrate p53/p58;insulin receptor substrate protein of 53 kDa APPROVED protein-coding ENSG00000175866 947 05686 605475 REVIEWED 6482638 BANF1P5 barrier to autointegration factor 1 pseudogene 5 7 q22.3 107282833 107283504 + 101290503 AC078937;NG_033173 pseudo 43885 INFERRED 6483733 BANF1P4 barrier to autointegration factor 1 pseudogene 4 1 174725608 174726350 - 100653423 ABBA01027877;AL161671;AMYH01001512;NG_029684 pseudo 43884 INFERRED 1352215 BAIAP2L1 BAI1-associated protein 2-like 1 This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009] 7 7 7 q22.1 92614864 92724061 - 97760491 97868316 - 97920962 98030427 - 6480464 22829776;19366662;17430976;17081983;16344560;15489334;15324660;14752106;12853948;12690205;12477932;10931946;9847074;8889548;17568789;18215522;19807924;18029348;20562859;21139048;21555454;21906983;21098279;23383273;20811636;21840312;21887275;22219177;22745667;23175443;21963094;23251661 55971 Q9UHR4 AACC02000085;ABBA01045726;ABBA01045727;ABBA01045728;ABBA01045729;ABBA01045730;ABBA01045731;AC004841;AC093169;AC093799;AF119666;AK027109;AK027142;AK074419;AK124269;AK309936;AMYH01017714;AMYH01017715;AMYH01017716;BC013888;BI560834;BM977002;CH236956;CH471091;DA442866;NG_013090;NM_018842 AAD20937;AAF17223;AAH13888;AAS07549;AAS07550;ACE87078;ACE87758;BAB15671;EAL23890;EAW76706;EAW76707;NP_061330;Q9UHR4 Hs.656063 1648473;1657652;1675120;1679936;1683687;1689771;1703246;2154605 D7S2754;G09735;GDB:1317708;RH12625;RH79669;RH92769;RH98644;SGC31939 FLJ42275;IRTKS BAI1-associated protein 2-like protein 1;OTTHUMP00000205450;brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1;insulin receptor tyrosine kinase substrate APPROVED protein-coding ENSG00000006453 21649 11270 611877 REVIEWED 1346993 BAMBI BMP and activin membrane-bound inhibitor This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008] 10 10 p12.3-p11.2 29006430 29011874 + 28966424 28971868 + 737633;1580863;6480464;6484113 12477932 10942595;8621228;19328798;19326429;18838381;18756595;16189514;15489334;15340161;15240101;15164054;14660579;12107411;8125298;22406377;20513241;20634891;19758997;19998449;20189233;20886049;21496456;21900206;22187378;21890473;21963094 25805 Q13145 ABBA01034373;AI680996;AJ277487;AK223065;AK290639;AL161936;AMYH01002212;BC019252;BQ640107;BT006820;CH471072;NM_012342;U23070;U29189 AAC50435;AAH19252;AAP35466;AAR02414;BAD96785;BAF83328;CAB89152;EAW86030;EAW86031;NP_036474;Q13145 Hs.533336 1854544;2110521;2110523;2148335;2219028;5013966 BAMBI__4431;MARC_37841-37849:1070304063:1;MARC_37843-37842:1071256456:1;MARC_37843-37844:1076342064:3;WI-16558;WIAF-1707 NMA BMP and activin membrane-bound inhibitor homolog;OTTHUMP00000019384;non-metastatic gene A protein;putative transmembrane protein NMA APPROVED protein-coding ENSG00000095739 30251 05117 604444 REVIEWED 1353034 BAK1 BCL2-antagonist/killer 1 The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008] 6 6 p21.3 33648301 33656048 - 33540323 33548070 - 1580863;2313963;2315700;2315701;2313975;2315703;1643479;2315709;2316133;6480464;6907045 18817839;19222350;12771926;17322918;9894249;16962107;11232245;18993028 15901672;10837489;9843949;10381623;9111042;10950869;12721291;19463775;19282307;19255499;19135534;19074885;19056676;19041633;18927073;18715924;18676680;18665919;18636124;18593893;18524770;18472157;18471982;18413764;18362892;18349538;18299329;18251703;18178565;18056640;17991745;17927446;17880809;17879944;17724463;17699158;17698840;17686864;17513609;17235284;17227835;17188240;17074758;17015472;16988840;16978419;16874066;16847458;16794010;16645094;16529740;16439990;16436379;16410245;16376985;16341674;16172118;15846589;15757910;15638362;15638360;15489334;15478112;15467752;15351796;15322047;15248898;15194786;15159409;15124764;15077116;15003505;14702039;14647456;14596824;14574404;12881569;12847083;12808108;12624178;12624108;12477932;12454021;12297281;12176904;12070120;11964315;11940658;11932420;11929871;11908704;11867266;11795669;11728179;11571294;11326099;11175750;10639121;10579309;10381646;10365962;10085290;9878060;9573342;9463381;9020082;8521816;7715731;7715730;7715729;14980220;17353931;15637055;16189514;12137781;15846303;22504646;22700719;16712791;19343496;20428767;20629644;21041309;11206074;15292519;19060904;19168699;19170196;19351886;19381065;19481066;19483681;19514060;19587033;19625176;19692168;19820697;19875445;19898928;19955184;20308427;20453000;20836993;20959805;21036904;19913121;20628086;20561923;20460378;20855536;20877624;20503275;21159883;21196599;21656147;20034877;21158936;21148306;19593445;22939629;21658363;21613222;18387192;22686245;21617256;21233848;21727192;22257632;21726118;22526391;17289999;20930068;21852253;22297299;22354970;22065578;23189150;23283967;23389372;23404709;23140172;21900206;22024133;22253918;22423221;22188816;20978950;22056880;22072546;22515821;22719244;21712378;22440942;19148187;22493436;23229512;23604079;21988832;23192964;8887627;23251661;23263863;23480852;22139419;22378505;22479585;23303126 578 C0H5Y7;Q16611 ABBA01038158;AF520590;AK091807;AK292093;AK293547;AK303422;AMYH01016247;AY260471;BC004431;BC032789;BC110337;BM855203;CB142221;CH471081;CR457419;CR627020;D88397;NM_001188;U16811;U23765;X84213;Z93017 AAA74466;AAA93066;AAH04431;AAI10338;AAM74949;AAO74828;ABM83453;ABM86665;BAA13606;BAF84782;BAG52419;BAG57025;BAG64474;CAA58997;CAG33700;CAI46254;EAX03740;EAX03741;EAX03742;NP_001179;Q16611 Hs.485139 1684830;5111522 D11S4366;RH64934 BAK;BAK-LIKE;BCL2L7;CDN1;MGC117255;MGC3887 BCL2-like 7 protein;OTTHUMP00000016211;apoptosis regulator BAK;bcl-2 homologous antagonist/killer;bcl-2-like protein 7;bcl2-L-7;pro-apoptotic protein BAK APPROVED protein-coding ENSG00000030110 949 02744 600516 REVIEWED 1342836 BANF1 barrier to autointegration factor 1 The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009] 11 11 q13.1 65526126 65528193 + 65769550 65771617 + 632371;1580863;6480464 9465049 21549337;14645565;14523012;12663813;12493765;12477932;12163470;11792822;11792821;11005805;10924106;10908652;10651245;10393804;9783751;9740667;9521877;7937898;16738646;16680152;16403635;16075307;15875659;12091904;16291214;12228227;15479846;18628300;18005698;17519288;16371512;16337940;16204256;16203725;16155580;15681850;15635413;15546916;15489334;15130582;15109603;17620012;20581439;21447625;12215455;19759913;16622419;21674799;22939629;22935701;21139048;21890473;21906983;22127260;23000965;21628590;21750191;21880762;21932319;21966431;17304248;19750561 8815 E9PJJ8;O75531 ABBA01024094;AF044773;AF068235;AF070447;AK311961;AMYH01003727;AP006287;BC005942;BC008705;BC107702;BG748852;BU940708;CH471076;CR542140;NG_031874;NM_001143985;NM_003860 AAC08964;AAC23575;AAD15901;AAH05942;AAI07703;BAG34901;CAG46937;EAW74483;EAW74484;EAW74485;EAW74486;NP_001137457;NP_003851;O75531 Hs.433759 1645935;1678945 G06903;RH69702 BAF;BCRP1;D14S1460;MGC111161;NGPS OTTHUMP00000234145;OTTHUMP00000234146;barrier-to-autointegration factor;breakpoint cluster region protein 1 APPROVED protein-coding ENSG00000175334 17397 04817 603811;614008 REVIEWED 1317375 BANF2 barrier to autointegration factor 2 20 20 20 p12.1 17748830 17791025 + 17628593 17664517 + 17674320 17716517 + 6480464 16337940;15489334;12477932;11780052;7829101;20379614;18029348 140836 B1AM15;Q9H503 AA394107;ABBA01054027;ABBA01054028;AL132765;AL160071;AMYH01011738;AW022487;BC054871;BC062735;CH471133;NM_001014977;NM_001159495;NM_178477 AAH54871;AAH62735;EAX10271;EAX10272;NP_001014977;NP_001152967;NP_848572;Q9H503 Hs.115366 1687694 RH93138 BAF-L;BAF2;BAFL;C20orf179;MGC62093;MGC72082 OTTHUMP00000040745;OTTHUMP00000040746;OTTHUMP00000162797;barrier-to-autointegration factor 2;barrier-to-autointegration factor-like protein protein-coding ENSG00000125888 16172 12759 VALIDATED 1316673 BANP BTG3 associated nuclear protein This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 16 16 q24 86542539 86668425 + 87985038 88110924 + 6480464 19303885;18981184;16344560;16189514;16166625;15701641;15623522;15371550;15146197;14702039;12494467;12477932;10950932;10940556;8889549;20719862;17668048;18822384;19448619;19799771;20075864;20153327;20379614;20097305;20562859;22074660;20709157;21044950;22013068;21988832;23291589;20153010;22674979 54971 B3KM38;B4DE54;C9J811;C9JF73;C9JGM9;C9JLS0;C9JLT2;C9JTM8;C9JYB6;E9PIP2;E9PJI6;Q8N9N5;Q9NSS6 ABBA01006925;ABBA01006926;ABBA01006927;ABBA01006928;ABBA01006929;AC127455;AC134312;AK001039;AK094158;AK125232;AK293472;AK297945;AK315089;AK315535;AL157429;AMYH01007904;AMYH01007905;BC009424;BC018247;CH471114;CN289917;DA632793;NG_029918;NM_001173539;NM_001173540;NM_001173541;NM_001173542;NM_001173543;NM_017869;NM_079837;T49823 AAH09424;ABM84102;ABM87474;BAC04296;BAG37554;BAG50850;BAG54171;BAG56965;BAG60261;CAB75653;EAW95364;EAW95365;EAW95366;EAW95367;EAW95368;EAW95369;EAW95370;NP_001167010;NP_001167011;NP_001167012;NP_001167013;NP_001167014;NP_060339;NP_524576;Q8N9N5 Hs.461705 1738567;1764575;1766431;1780036;1780064;2131708;5122220 D16S2733;SHGC-148167;SHGC-149765;SHGC-154291;SHGC-154313;SHGC-33012;STS-T49824 BEND1;DKFZp761H172;FLJ10177;FLJ20538;SMAR1;SMARBP1 BEN domain containing 1;BEN domain-containing protein 1;OTTHUMP00000175041;OTTHUMP00000175042;OTTHUMP00000175043;OTTHUMP00000233938;btg3-associated nuclear protein;protein BANP;scaffold/matrix-associated region-1-binding protein APPROVED protein-coding ENSG00000172530 13450 16538 611564 REVIEWED 1342509 BANK1 B-cell scaffold protein with ankyrin repeats 1 The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 q24 102930787 103214992 + 102711764 102995969 + 6480464;7240710 19339986;19180476;19110536;18204447;16344560;15489334;14702039;12477932;11782428;19357697;11329013;19644876;19815934;19877059;20131273;20379614;20472928;20848568;20881011;20962850;21068098;21078628;21208380;21480188;20618440;21989138;22003931;21978998;21900951;22763476;23065315;23128233;23273568;23453885 55024 Q8NDB2 AA768944;AB063170;ABBA01063693;ABBA01063694;ABBA01063695;ABBA01063696;AC093694;AC095062;AC109928;AI864790;AK000713;AK091523;AK093024;AK292133;AK301936;AL834291;AMYH01014428;AMYH01014429;AMYH01014430;AP002075;AW574859;BC032241;BE748761;BG200452;CH471057;DA109829;DA946668;EU051376;NG_015824;NM_001083907;NM_001127507;NM_017935 AAH32241;ABM81992;ABM85173;ABW74340;BAA91337;BAB79255;BAC03685;BAF84822;BAG63356;CAD38965;EAX06127;EAX06128;NP_001077376;NP_001120979;NP_060405;Q8NDB2 Hs.480400 1335077;1652395;1653556;1690742;1718763;1752553;1753793;1773838;2135592;2149478;2157165;2168424;2186415;2218294 BANK1_4432;D4S1235;D4S290;D4S2961;D4S3204;G01532;G01787;GDB:372311;RH123071;RH92147;SHGC-106471;SHGC-108016;SHGC-50588;SHGC-51455 BANK;FLJ20706;FLJ34204 B-cell scaffold protein with ankyrin repeats;OTTHUMP00000219423;OTTHUMP00000219424;OTTHUMP00000219425;OTTHUMP00000219426 APPROVED protein-coding ENSG00000153064 18233 09819 152700;610292 REVIEWED 1323652 BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013] 3 3 p21.31-p21.2 52410064 52419049 - 52435024 52444009 - 1580863;6480464 22367297;23333114;9528852;19367581;19197335;19117993;18950845;18757409;15489334;15302935;14702039;12800201;12477932;12168954;10546591;9039502;8125298;20436459;19188440;19615732;19815555;19950226;18029348;20805357;21051595;23032617;23277170;21484256;21642991;21874000;21874003;15717329;20360068;10667217;16344560;20302916;22042019;22268848;22834783;23147254;22683710;21941004;22118674;21139048;21890473;22897849;22935333;22545102;21926972;22321046;22878500;22958294;22626734;22863556;2532544;23026932 8314 C9J7L9;F8W6N3;F8WEY5;H0Y8E8;H7C4V7;Q92560 AB002534;ABBA01024509;AC092045;AF045581;AJ011861;AK092725;AK094499;AK225494;AK292608;AK295395;AK307274;AMYH01013183;AY130008;BC001596;BX647318;CH471055;D87462;D88812;DA188433;NG_031859;NM_004656 AAC15970;AAH01596;AAN05092;ABM83471;ABM86682;BAA13401;BAB46921;BAB46926;BAF85297;BAG52602;BAG58349;EAW65220;EAW65221;NP_004647;Q92560 Hs.106674 1768736;1788698;2106959;2159579;2175969;5014055 BAP1_7253;D1S3697;D3S3829;D3S3975;RH135811;SHGC-76996 DKFZp686N04275;FLJ35406;FLJ37180;HUCEP-13;KIAA0272;TPDS;UCHL2;hucep-6 BRCA1-associated protein 1;OTTHUMP00000212891;OTTHUMP00000212984;cerebral protein 6;cerebral protein-13;cerebral protein-6;ubiquitin carboxy-terminal hydrolase;ubiquitin carboxyl-terminal hydrolase BAP1 APPROVED protein-coding ENSG00000163930 950 04366 603089;614327 REVIEWED 4889636 BASP1P1 brain abundant, membrane attached signal protein 1 pseudogene 1 13 13 13 q12.12 4533499 4534650 - 22369480 22370661 - 23471169 23472320 - 19376485 646201 ABBA01068628;AI624948;AL157931;AMYH01004966;NR_033774 Hs.729338 pseudo 39418 PROVISIONAL 736238 BARD1 BRCA1 associated RING domain 1 This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. [provided by RefSeq, Jul 2008] 2 2 q34-q35 215301507 215382673 - 215593262 215674428 - 734631;1580863;2293149;2315713;2315714;2315716;2315717;2315727;2315729;2315732;2315715;632230;6480464;7240710 8944023;18443292;17028982;17333333;16768547;16333312;16152612;14550946;16685375;17972171;11156388 12419249;15782130;10026184;10477523;15184379;15265711;15905410;15632137;17525342;19261748;19261749;14976165;19197335;19176389;19164445;19124506;19117993;19064572;19064565;18950845;18842000;18676680;18481171;18480049;18243530;18089818;17678435;17556008;17550235;17497650;17399677;17275994;17185394;16825437;16672066;16344560;16061562;15886201;15855157;15815621;15665273;15489334;15383276;15342711;15218362;15159397;14647430;14638690;14560035;12890688;12781370;12732733;12611903;12485996;12477932;12438698;12431996;12183411;12154023;11943588;11927591;11925436;11807980;11779501;11777930;11773071;11573085;11498787;11257228;10764811;10362352;9798686;9425226;9342365;8889548;8125298;14636569;12951069;12700228;11526114;11504724;11301010;11278247;10635334;9788437;9738006;11799067;18936166;21124317;21087664;17525341;19170196;19412175;19482343;19536092;19584272;19615732;19625176;19692168;19789190;19796682;19887602;19959210;20060929;20077502;20215511;20379614;20453000;16489000;19690564;20842729;19714462;23086937;21103343;17664283;15569676;19766185;21809034;17218787;21393566;21335604;12549820;18493658;19916563;21742769;19369211;21815143;16391231;17283126;20351172;21693656;21890473;21901007;21950761;21965653;22350409;20301425;16403807;19322201;20451671;20681793;21344236;22328350;22652532;22990118;22941191;23222812;22544576;22883453;20379136;23056176 580 A0AVN2;C9IYG1;C9J6M1;E7EUI3;F8WCG2;Q99728 ABBA01062783;AC016708;AF038034;AF038035;AF038036;AF038037;AF038038;AF038039;AF038040;AF038041;AF038042;AK223409;AK301843;AK310759;AK314260;AMYH01011482;AMYH01011483;AX794378;BC126426;BC126428;BU677525;BX098964;CH471063;DB088853;JF790280;JF790281;JF790282;JF790283;JF790284;JF790285;JF790286;JF790287;NG_012047;NM_000465;U76638 AAB38316;AAB99978;AAI26427;AAI26429;AAX93130;AEF57471;AEF57472;AEF57473;AEF57474;AEF57475;AEF57476;AEF57477;AEF57478;BAD97129;BAG36925;BAG63286;CAE48237;EAW70519;NP_000456;Q99728 Hs.591642 1753921;1771331;2151634;2218298 BARD1_4434;RH66789;SHGC-108134;SHGC-56861 BARD-1;BRCA1 associated RING domain 1 isoform alfa;BRCA1 associated RING domain 1 isoform beta;BRCA1 associated RING domain 1 isoform delta;BRCA1 associated RING domain 1 isoform epsilon;BRCA1 associated RING domain 1 isoform eta;BRCA1 associated RING domain 1 isoform gamma;BRCA1 associated RING domain 1 isoform phi;BRCA1-associated RING domain gene 1;OTTHUMP00000163973 APPROVED protein-coding 952 03354 114480;601593 REVIEWED 733588 BARHL1 BarH-like homeobox 1 9 9 9 q34 105999743 106007390 + 134447814 134455461 + 135457993 135465640 + 1580863;6480464 17353931;18029348;14702039;10814725;12477932;20211142;21602885 56751 Q9BZE3 ABBA01032484;AF321618;AF325688;AJ237816;AK054797;AL354735;AMYH01021792;BC136956;BC136969;BC144433;CH471090;NM_020064 AAG50279;AAI36957;AAI36970;AAI44434;AAK52674;BAB70807;CAB92439;EAW88005;NP_064448;Q9BZE3 Hs.283809 OTTHUMP00000022433;barH-like 1 homeobox protein protein-coding ENSG00000125492 953 05554 605211 VALIDATED 1344726 BARHL2 BarH-like homeobox 2 1 1 1 p22.2 89425682 89430897 - 90950167 90955382 - 91177579 91182794 - 1580863;6480464 15489334;12477932;10814725 343472 Q9NY43 ABBA01045575;AC092805;AJ251753;AMYH01000780;AY338397;BC126439;BC126441;CH471097;NM_020063 AAI26440;AAI26442;AAQ01189;CAB92440;EAW73123;NP_064447;Q9NY43 Hs.451956 1692958;2218300;5017929 AL034195;BARHL2_4436;Barhl2 OTTHUMP00000011704;barH-like 2 homeobox protein protein-coding 954 05555 605212 VALIDATED 1350102 BARX2 BARX homeobox 2 This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008] 11 11 11 q25 126414612 126490903 + 128751091 128827384 + 129245881 129322174 + 1580863;6480464 14744868;14702039;12477932;11278942;10854790;10644443;9122247;20634891;22238593;22383897;21890473 8538 G3V222;G3V397;Q9UMQ3 ABBA01023020;AF031924;AF171222;AJ243512;AK022187;AMYH01004124;AP003775;BC069378;BC111432;BC111572;CH471065;NM_003658 AAC04705;AAF09453;AAH69378;AAI11433;AAI11573;CAB50736;EAW67743;NP_003649;Q9UMQ3 Hs.591944 1760115;2218302 BARX2_2111;SHGC-108027 MGC133368;MGC133369 BarH-like homeobox 2;OTTHUMP00000230949;OTTHUMP00000244646;homeobox protein BarH-like 2 APPROVED protein-coding ENSG00000043039 956 16074 604823 REVIEWED 1322041 BARX1 BARX homeobox 1 This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. [provided by RefSeq, Jul 2008] 9 9 9 q12 67155476 67159081 - 95753730 95757429 - 96713909 96717608 - 1580863;6480464 10995576;18978678;17486624;12477932;18708738;20634891;23314748;21900206 56033 Q9HBU1 ABBA01017680;ABBA01017681;AF213356;AL357073;AMYH01021518;AMYH01021519;BC009458;BC064363;CH471089;NM_021570 AAG23738;AAH09458;AAH64363;ADZ15659;EAW62873;NP_067545;Q9HBU1 Hs.164960 1797312 BARX1_2258 BarH-like homeobox 1;OTTHUMP00000021686;OTTHUMP00000197307;homeobox protein BarH-like 1 APPROVED protein-coding ENSG00000131668 955 16017 603260 REVIEWED 1347703 BASP1 brain abundant, membrane attached signal protein 1 This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012] 5 5 5 p15.1 17243172 17302814 + 17270750 17329943 + 17217750 17276943 + 1580863;6480464 9749536;19376485;18949357;18268500;17081983;15489334;14701728;12477932;10965107;9310187;19050011;19956849;18850735;21269271;22939983;17500595;22863883;22939629;19013454;21139048;18781797;21987572;19322201;15146197;16344560;8889548;21963094;22304920;22810585;23092984;23275563;23398456 10409 P80723 ABBA01020692;AC026785;AC091878;AF039656;AK295995;AK314152;AMYH01014934;BC000518;BG704783;BM888431;BM973114;BT019340;BT019341;BU181147;CH471102;CN355202;CS300636;DA489123;DW458407;HY258599;NM_001271606;NM_006317 AAC67374;AAH00518;AAV38147;AAV38148;ABM85492;ABW03753;BAG58770;CAK32300;EAX08012;EAX08013;NP_001258535;NP_006308;P80723 Hs.201641;Hs.646924 1683245;1700120;1751793;1751847;1779149 G35277;RH103673;RH80044;SHGC-105828;SHGC-105831 CAP-23;CAP23;MGC8555;NAP-22;NAP22 22 kDa neuronal tissue-enriched acidic protein;OTTHUMP00000161694;brain acid soluble protein 1;brain acid-soluble protein 1;neuronal axonal membrane protein NAP-22;neuronal tissue-enriched acidic protein APPROVED protein-coding ENSG00000176788 957 08389 605940 REVIEWED 1312643 BATF basic leucine zipper transcription factor, ATF-like The protein encoded by this gene is a nuclear basic leucine zipper protein that belongs to the AP-1/ATF superfamily of transcription factors. The leucine zipper of this protein mediates dimerization with members of the Jun family of proteins. This protein is thought to be a negative regulator of AP-1/ATF transcriptional events. [provided by RefSeq, Jul 2008] 14 14 q24.3 75058537 75083086 + 75988784 76013335 + 1580863;6480464 8570175;8630063;16189514;15489334;12809553;12719594;12594265;12508121;12477932;10777209;9745044;8954125;20453842;15342556;20890291;20211142;21833088 10538 G3V266;Q16520 ABBA01030697;AC007182;AF016898;AMYH01005860;BC032294;BP235761;CH471061;D42106;NM_006399;U15460 AAC50314;AAC78243;AAD51372;AAH32294;BAA07686;EAW81234;NP_006390;Q16520 Hs.509964 1682928;2136526;2139591;2167945 G35460;G35803;RH98930;STS-U15460 B-ATF;BATF1;SFA-2;SFA2 B-cell-activating transcription factor;OTTHUMP00000246169;SF-HT-activated gene 2 protein;activating transcription factor B;basic leucine zipper transcriptional factor ATF-like APPROVED protein-coding ENSG00000156127 958 09820 612476 REVIEWED 1602111 BATF3 basic leucine zipper transcription factor, ATF-like 3 This gene encodes a member of the basic leucine zipper protein family. The encoded protein functions as a transcriptional repressor when heterodimerizing with JUN. The protein may play a role in repression of interleukin-2 and matrix metalloproteinase-1 transcription.[provided by RefSeq, Feb 2009] 1 1 1 q32.3 186085819 186099376 - 210926383 210939950 - 212859759 212873327 - 6480464 10878360;15467742;14702039;12805554;12477932;12087103;11329013;12650714;12101239 55509 Q9NR55 ABBA01048166;AF255346;AK093671;AK094854;AL591647;AMYH01001708;AMYH01001709;BC117489;BC117491;BG184570;CH471100;NM_018664 AAF73966;AAI17490;AAI17492;ADR82815;EAW93381;NP_061134;Q9NR55 Hs.62919 2107639 SNFT__6873 FLJ36352;FLJ37535;JDP1;JUNDM1;SNFT 21 kDa small nuclear factor isolated from T-cells;21-kD small nuclear factor isolated from T cells;B-ATF-3;Jun dimerization protein 1;Jun dimerization protein p21SNFT;OTTHUMP00000034931;basic leucine zipper transcriptional factor ATF-like 3 APPROVED protein-coding ENSG00000123685 28915 18081 612470 REVIEWED 1602989 BATF2 basic leucine zipper transcription factor, ATF-like 2 11 11 11 q13.1 62081362 62090462 - 64511993 64521093 - 64755417 64764517 - 6480464 19074269;16713569;16189514;14702039;12477932;20531301;19060904;20473897;21867603;21892628;21988832;23049725 116071 B4DV37;E9PJ73;Q8N1L9 ABBA01024138;AK092453;AK096702;AK300917;AMYH01003716;AP000436;BC011931;BC012330;CH471076;HM134154;NM_138456 AAH12330;ADJ55304;BAC03894;BAC04846;BAG62549;EAW74330;EAW74331;NP_612465;Q8N1L9 Hs.124840 1737985;1768945;2109509 D11S3587;L18080;MGC20410__7686 MGC20410;SARI B-ATF-2;OTTHUMP00000230540;OTTHUMP00000230788;basic leucine zipper transcriptional factor ATF-like 2;suppressor of AP-1 regulated by IFN protein-coding ENSG00000168062 25163 14470 614983 VALIDATED 1314679 BAZ1A bromodomain adjacent to zinc finger domain, 1A The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010] 14 14 q13.2 34291688 34414604 - 35221937 35344853 - 1580863;6480464 17519354;17081983;16877760;14702039;12477932;10880450;10662543;10655480;11980720;12374985;12198550;15780937;15231748;19450608;20033039;20379614;19394292;21172662;14759371;12434153;21252943;22939629;21738833;19596686;21745822;19322201;19471022;21139048;21549307;21693764;21890473;22242598;22505724;22952844 11177 H0YJ68;H0YJ74;H0YJP5;Q9NRL2 AB032252;AB209255;ABBA01061484;ABBA01061485;ABBA01061486;AF086397;AF161435;AF213467;AF221130;AK027289;AL050089;AL121603;AL355885;AMYH01005661;AMYH01005662;BC020636;BC108711;CB217757;CH471078;HI574156;HI574158;NM_013448;NM_182648 AAF28995;AAF32366;AAF70601;AAH20636;AAI08712;AAI56492;BAA89209;BAD92492;BAG51300;CAB43261;CBX47567;CBX47568;EAW65900;EAW65901;EAW65902;EAW65903;EAW65904;EAW65905;NP_038476;NP_872589;Q9NRL2 Hs.509140 1678347;1700960;1776065;1849784;2164311 G35901;G36258;RH104107;RH44609;RH98236 ACF1;DKFZp586E0518;FLJ14383;WALp1;WCRF180;hACF1 ATP-dependent chromatin remodeling protein;ATP-dependent chromatin-remodeling protein;ATP-utilizing chromatin assembly and remodeling factor 1;CHRAC subunit ACF1;OTTHUMP00000178813;OTTHUMP00000244406;bromodomain adjacent to zinc finger domain protein 1A;hWALp1;williams syndrome transcription factor-related chromatin-remodeling factor 180 APPROVED protein-coding ENSG00000198604 960 605680 VALIDATED 1314248 BAZ1B bromodomain adjacent to zinc finger domain, 1B This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008] 7 7 q11.23 72492676 72574544 - 72854728 72936615 - 1580863;6480464 23085504;16252006;19092802;11124022;17081983;16603771;16565220;16514417;15635413;15302935;15543136;14702039;12853948;12477932;11980720;10662543;9858827;9847074;9828126;18162579;20657596;21490707;20802025;20864672;20580033;20628086;16344560;19060906;19060911;19656773;19776015;19913121;19394292;19454010;21326359;17250953;22939629;22412018;23505323;23752268;21252943;18781797;19596686;22178446;19471022;21139048;21555454;21890473;21906983;21907836;22586326;20195357;22751105;23000965;23263486;22505724 9031 Q9UIG0 AB032253;ABBA01063952;ABBA01063953;ABBA01063954;ABBA01063955;ABBA01063956;ABBA01063957;AC005074;AC005089;AF072810;AF084479;AK123274;AMYH01017533;BC041561;BC050599;BC065029;BC080544;BC136520;BU632531;CH471200;DA739467;NG_027679;NM_032408 AAC97879;AAD04720;AAD08675;AAH65029;AAI36521;AAP22332;BAA89210;EAW69679;EAW69680;EAW69681;NP_115784;Q9UIG0 Hs.743372 1651477;1654361;1663287;1665161;1790431;1790433;1790449;1790451;1854075;2123687;2124774;2125528;2135598;2149723;2157371;2174063;2217062;5113960 BAZ1B_3920;D7S2024;D7S3288;D7S3289;D7S3300;D7S3301;G20570;GDB:1317340;GDB:1317820;GDB:1317822;GDB:1318100;GDB:1318116;GDB:1318124;GDB:1318352;GDB:4585423;GDB:4585619;RH17036;RH65972 WBSCR10;WBSCR9;WSTF OTTHUMP00000160320;OTTHUMP00000197535;Williams-Beuren syndrome chromosome region 10;Williams-Beuren syndrome chromosome region 9;bromodomain adjacent to zinc finger domain protein 1B;hWALp2;transcription factor WSTF;tyrosine-protein kinase BAZ1B;williams syndrome transcription factor;williams-Beuren syndrome chromosomal region 10 protein;williams-Beuren syndrome chromosomal region 9 protein APPROVED protein-coding ENSG00000009954 961 10416 605681 REVIEWED 735389 BBC3 BCL2 binding component 3 This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011] 19 19 q13.3-q13.4 52415924 52426291 - 47724079 47736023 - 1580863;2314029;2313994;6480464;6907045;634629 19641503;19095966;12913114 17934815;15721256;21997190;22394200;11463391;11463392;16608847;19587239;19380879;19064725;19028473;18941118;18835564;18811981;18579560;18573879;18367875;18354037;18324703;18215742;17996028;21863213;22159712;22359675;22086558;22773666;17616685;17393317;17388661;17368424;17360476;17267315;16983338;16462759;16151013;16091745;16007132;15905879;15731089;15731037;15694340;15595728;15574335;15547745;15143349;14634023;14585351;14550297;12963126;12574499;11572983;14993250;17011204;17698840;20413175;20421300;12477932;14702039;16697956;19421143;19439449;19444283;19641508;19660860;19679565;19737931;19815839;19851330;19966853;20075864;20206402;19638343;20478995;21044367;21048031;20430872;20813046;20419447;20418652;21042732;21159778;20978166;17024184;21364664;23001513;21153863;21490394;21633093;21613222;20723285;21887277;21699775;19652530;21151175;21364604;21486225;22174832;21868573;17289999;21730980;15174051;22286758;22130069;22446329;22021910;21120639;22178394;22283740;23220852;23243310;22763818;23340338;22997714;19050264 27113 Q96PG8;Q9BXH1 AA887822;ABBA01041015;ABBA01041016;ABBA01041017;ABBA01041018;AC008532;AF332558;AF354654;AF354655;AF354656;AK124984;AK298837;AMYH01009876;AMYH01009877;BC136481;BG258126;CH471126;NG_031991;NM_001127240;NM_001127241;NM_001127242;NM_014417;U82987 AAB51243;AAI36482;AAK31316;AAK39542;AAK39543;AAK39544;BAG60965;EAW57465;EAW57466;EAW57467;NP_001120712;NP_001120713;NP_001120714;NP_055232;Q96PG8;Q9BXH1 Hs.467020 1769759;2218736 BBC3_3813;RH70710 FLJ42994;JFY-1;JFY1;PUMA JFY-1;bcl-2-binding component 3;p53 up-regulated modulator of apoptosis APPROVED protein-coding ENSG00000105327 17868 16165 605854 REVIEWED 70373 BAX BCL2-associated X protein The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Jul 2008] 19 19 q13.3-q13.4 54149929 54156867 + 49458117 49465055 + 734633;734634;734632;1300048;1579984;1579966;1643353;1643354;1643355;2293026;2293073;1643352;1643356;2292907;2313963;2314021;2311240;2314140;2290557;2296025;2313998;2296023;2313975;2291908;6480464;6484113;6907045;7248687;7248688 9020077;9531611;7569956;12234300;15632274;17626754;17575222;17454944;18221257;17639989;17694953;17288732;18444130;18817839;19820199;18991018;18959742;18083315;17390059;18931364;18452128;17322918;18317887;22614867;22419868 21069436;14980220;9130713;22418443;22015607;22366766;15705586;17052454;14522999;9111042;16608847;15214043;16424160;15073604;11350920;9843949;16462759;10702418;12499352;14769861;15637643;16307838;10739008;10629050;11912183;11136736;19573080;19541585;19463775;19453261;19439472;19429011;19380879;19376889;19360919;19336552;19278624;19266703;19265193;19237173;19228953;19221769;19196429;19177010;19157504;19150424;19141860;19125733;19101510;19074885;19074440;19056676;19054058;19031258;18979557;18974096;18948948;11759062;11759059;11642719;11574543;11571294;11437653;11283018;11278245;11259440;11175336;11175251;11161816;11106734;11060313;10908576;10854321;10837489;10772918;10753914;10620603;10437917;10365962;10200447;9988273;9920818;9748162;9742125;9565621;9463381;9449720;9153240;9027312;8961277;8889548;8760290;8580080;8521816;8358790;7834749;7607685;7566098;15033690;11602639;10942389;15555592;16235026;10381646;15637055;12070120;12137781;9824152;15231068;18941118;18936968;18925695;18840646;18818304;18818203;18814044;18813857;18812638;18793611;18772168;18705844;18705408;18695676;18692524;18676680;18676372;18670882;18665919;18651223;18651163;18644472;18642056;18636124;18594472;18590778;18590739;18568448;18563851;18546202;18534994;18511705;18508723;18494554;18481805;18474606;18472157;18472156;18462830;18454316;18453545;18449500;18445700;18415689;18415681;18395515;18390829;18375382;18362892;18362350;18344566;18331646;18307410;18299329;18299320;18282575;18259191;18259190;18258596;18251703;18240345;18223689;18214681;18211414;18195012;18193434;18178565;18177350;18160666;18158779;18089567;18074738;18059532;18054155;18034190;18023359;18019411;18006836;18006817;18006502;17997990;17996028;17993285;17990907;17981213;17978676;17927572;17927446;17912641;17911107;17905238;17900801;17880809;17855051;17693666;17686764;17676485;17668322;17666167;17635912;17635522;17634542;17562177;17556360;17535899;17534116;17525161;17519046;17513609;17509221;17499214;17496930;17494694;17486058;17438390;17438366;17426704;17404017;17395004;17388661;17346710;17335847;17289842;17235284;17213822;17203211;17203183;17171827;17140287;17118768;17107772;14963330;14767525;14766748;14730312;14719078;14716828;14714449;14704000;14698203;14681224;14661970;14647455;14647416;14634023;14631373;14628086;14612938;14612448;14606101;14596892;14559989;14550297;12970744;12963997;12917444;12907654;12853473;12837286;12816867;12808108;12782632;12767928;12749011;12743423;12737446;12732850;12606781;12592374;12583439;12579342;12575534;12510156;12496485;12490315;12481899;12477932;12477729;12454021;12445631;12439925;12426317;12419244;12408758;12393884;12393866;12389125;12388688;12359369;12270344;12215842;12215338;12214154;12193163;12189556;12176904;12169275;12165421;12161031;12151395;12082629;12070030;12058280;12036888;12032841;12025227;12023951;11997495;11994280;11992551;11949842;11943780;11932420;11929871;11922616;11912124;11911971;11909872;11899739;11894116;11875499;11869962;11867266;11852106;11850816;11842081;11839683;11839668;11787859;11782443;17091766;17084966;17074758;17067385;17015762;17015472;16987815;16949642;16946732;16874066;16855163;16832704;16830365;16810067;16709574;16645094;16642033;16611260;16603637;16575548;16572399;16568093;16552754;16538501;16518869;16485142;16479009;16472763;16443387;16436379;16410245;16380996;16344548;16307023;16246184;16229013;16215676;16186627;16172118;16172114;16151013;16148027;16139338;16132718;16113678;16085058;16010425;15962362;15949439;15901672;15889622;15846375;15843890;15832769;15830715;15806163;15782132;15773546;15770735;15767261;15764647;15757910;15743760;15743033;15735709;15735127;15694358;15688029;15657356;15655830;15642728;15638363;15613549;15574335;15516208;15489334;15484294;15467752;15459197;15383280;15375604;15375594;15351796;15322047;15314639;15304079;15302859;15298965;15292938;15262986;15258908;15158440;15149158;15148411;15096513;15037603;15024076;14971737;10620799;11742726;17897954;12901880;11850803;16009130;15893728;15710329;14752512;9372935;15607964;20431057;21725926;22052011;22109662;22159712;21367852;19636580;17007374;20683843;9219694;9388232;20503275;21159883;19745831;18664350;20565851;19475409;22761420;21199865;20200776;11251969;18029348;19062087;20819778;20855536;20877624;20959405;21048031;20584903;20850011;20803149;20683914;21115898;21123558;12839682;15077116;15131699;17097560;17274640;17643375;17823127;18718060;18835031;19170196;19351510;19363595;19439449;19481066;19494020;19564333;19587033;19625176;19629483;19655415;19657228;19660860;19680558;19692168;19692349;19700502;19723045;19729672;19737817;19773279;19801665;19805544;19809877;19846939;19875445;19880508;19888426;19895710;19898928;19931389;19937732;19938958;19955813;19956635;19968986;20015862;20045442;20075864;20101465;20130137;20180421;20308427;20333643;20346360;20360684;20382739;20453000;20485298;20627094;20728382;21070973;20140092;20490654;21041309;19913121;20628086;20644561;20723427;20561923;20929130;20929131;22736223;23289213;21245196;21414921;21060336;21712378;20966963;21196320;21506333;21156403;21173168;20034877;21122152;21138867;21458670;18928586;18928588;21148306;15102863;20732674;20942963;22675938;23213219;23383273;15388581;20114030;21042904;19035131;21029589;21067292;21223758;20300062;20865015;21695182;21778226;21289292;22748563;23088735;23297497;23324193;21565982;21751259;20423844;21746927;22949938;17803695;21606679;21978892;22037145;21090097;21597469;20416158;20723294;21642427;21642428;21852238;21953454;22072718;15254227;18719392;18973553;19319745;19812265;20340172;20404718;20960177;21483469;21521785;22262057;22524261;22526391;22552851;22629415;22685558;22732402;22745744;19247369;21706237;21810274;21952639;22014978;22141411;21530645;21903925;21729540;21887277;22297694;22484496;22442678;22570867;17289999;18727869;21139048;21890473;21906983;21936009;22065578;22067154;22198199;21674599;21785112;21861179;21949851;22278385;22590594;22645134;22668011;20652449;21717192;21862870;21947543;20822926;21567405;22053931;22906710;23000965;10620504;21819468;21883444;21907236;22189282;22246181;22277657;22309278;22201672;21104343;21752397;21847364;22056880;22292626;22544745;22560721;22719244;22910913;22995373;23151600;23170075;23283967;23329846;23389372;10716992;19118032;19148187;22440942;22707322;23421973;23421021;22860893;23038985;23140172;22729748;22785534;22852863;22892098;23049480;23487455;22710714;23151078;23291169;23824909;23442864;22479585 581 H0YA56;Q9UCZ6 ABBA01032954;ABBA01032955;AC026803;AF007826;AF008195;AF008196;AF020360;AF247393;AF250190;AF339054;AI565203;AJ417988;AJ586909;AJ586910;AK291076;AMYH01009908;AY217036;BC014175;BE396495;BM706954;CH471177;HQ889830;JX524562;L22473;L22474;L22475;NG_012191;NM_004324;NM_138761;NM_138763;NM_138764;NR_027882;T29044;U19599 AAA03619;AAA03620;AAA03621;AAC50142;AAD01415;AAD01416;AAD22706;AAF71267;AAF82094;AAH14175;AAL73333;AAO22992;ADZ05507;AFU81108;BAF83765;CAD10744;CAE52909;CAE52910;EAW52415;EAW52416;EAW52417;EAW52418;EAW52419;EAW52420;EAW52421;NP_004315;NP_620116;NP_620118;NP_620119;Q07812 Hs.624291 1783834;1788050;1788052;1793556;1793758;2133175;2190753;5117971 G67254;G67255;GDB:632822;PMC230316P5;PMC27116P1;RH47233;SHGC-156277;UniSTS:265693 BCL2L4 BCL2-associated X protein omega;BCL2-associated X protein transcript variant delta2;OTTHUMP00000218291;OTTHUMP00000218292;OTTHUMP00000218293;OTTHUMP00000218294;OTTHUMP00000218295;OTTHUMP00000218296;apoptosis regulator BAX;bcl-2-like protein 4;bcl2-L-4 APPROVED protein-coding ENSG00000087088 959 02498 600040 REVIEWED 1320334 BAZ2B bromodomain adjacent to zinc finger domain, 2B 2 2 2 q24.2 153787429 154084921 - 159883736 160181305 - 160175490 160473059 - 1580863;6480464 17081983;15489334;14702039;12477932;10819331;10662543;16189514;21738491;18482256;20802025;19322201 29994 C9JCA6;F6VJC3;H7BXK5;H7C092;H7C1I6;Q9UIF8 AB032255;AB040909;ABBA01004862;ABBA01004863;ABBA01004864;AC008277;AC009506;AK000386;AK027612;AK074895;AK127551;AK307683;AL080173;AL834381;AMYH01011205;AMYH01011206;BC012576;BC068527;BC107570;BX641037;BX647250;CH471058;NM_013450 AAH12576;AAI07571;AAI56488;AAY24281;BAA89212;BAA96000;BAB55231;BAC11274;CAB45759;CAD39044;CAE46023;EAX11403;EAX11404;EAX11405;EAX11406;EAX11407;NP_038478;Q9UIF8 Hs.470369 1648553;1669810;1681306;1683192;1699516;1706146;1709686;1710802;1717739;1734248;1769338;1771611;1848027;2171069;5014051;5015619;5016478;5017773;5021872;5022463;5022578;5022651;5037552;5126961 165XA1;BAZ2B;D11S2921;D11S3114;D1S1423;D2S1307;D2S1500E;D2S1967;D2S2117;D2S2829;D3S1673;D8S2278;D8S2279;GDB:434012;RH103352;RH121777;RH65361;RH92799;RH98458;SHGC-80116;SHGC-84142;SHGC-86329;WI-20141;sY3084 DKFZp434H071;DKFZp762I0516;FLJ45644;WALp4 OTTHUMP00000162897;OTTHUMP00000162898;bromodomain adjacent to zinc finger domain protein 2B;hWALp4 protein-coding ENSG00000123636 963 09295 605683 VALIDATED 1312828 BAZ2A bromodomain adjacent to zinc finger domain, 2A 12 12 12 q13.3 56642037 56681875 - 55275647 55316430 - 56989380 57030163 - 1580863;6480464 11532953;17672918;17081983;15489334;15302935;14702039;12477932;9205841;12198165;10662543;17474147;15292447;19578370;16085498;21252943;19471022;21139048;21890473;21906983;22586326;22139419 11176 F8VU39;F8VWQ3;F8W053;H0YHL2;H0YHQ7;H0YII3;J3KPG5;J3QK86;Q9UIF9 AB002312;ABBA01008429;ABBA01008430;ABBA01008431;ABBA01008432;AC090681;AF000422;AK023830;AK023842;AK127775;AK303327;AMYH01004506;BC008965;BC065914;CD686304;CH471054;CR749379;NM_013449 AAB60864;AAH08965;AAI52740;BAA20773;BAG51228;BAH13943;CAH18232;EAW96949;EAW96950;EAW96951;NP_038477;Q9UIF9 Hs.314263 1661902;1745965;1751887;1778120;2117100;2122595;2144982;2166125;2187670;2217064 A008S22;BAZ2A_3784;M27132;RH124269;RH69868;RH78335;SHGC-105788;STS-N33267;T15358;WI-12396 DKFZp781B109;FLJ13768;FLJ13780;FLJ45876;KIAA0314;TIP5;WALp3 OTTHUMP00000243520;OTTHUMP00000243521;OTTHUMP00000243523;TTF-I interacting peptide 5;TTF-I-interacting protein 5;bromodomain adjacent to zinc finger domain protein 2A;hWALp3;transcription termination factor I-interacting protein 5 protein-coding ENSG00000076108 962 10417 605682 VALIDATED 732171 BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008] 11 11 p14.2 27019085 27105930 + 27062509 27149354 + 1580863;1300048;6480464;6907045 9753662;10526231;19240061;17110165;16344560;15489334;12477932;7156861;6497835;3378057;3110383;1962562;1735445;16169070;20599753;18029348;20379614;20877624 8424 E9PKC9;O75936 ABBA01060975;ABBA01060976;AC015756;AC016450;AF082868;AK290108;AK313422;AMYH01003456;BC011034;CH471064;CR456812;DA268467;DQ471856;DQ471857;DQ471858;DQ471859;DQ471860;DQ471861;DQ471862;DQ471863;DQ471864;DQ471865;DQ471866;DQ471867;DQ471868;DQ471870;NM_003986 AAC64066;AAH11034;ABF17859;ABF17860;ABF17861;ABF17862;ABF17863;ABF17864;ABF17865;ABF17866;ABF17867;ABF17868;ABF17869;ABF17870;ABF17871;ABM83703;ABM87023;ACE87221;BAF82797;BAG36214;CAG33093;EAW68290;EAW68291;NP_003977;O75936 Hs.591996 1683964;1698930;1737057;1739895;1750767;2139404;2144695;5092818 A006G34;D11S2804;D11S4058;G32349;RH103034;RH79794;SHGC-102216;WI-18141 BBH;BBOX;G-BBH;gamma-BBH OTTHUMP00000231947;OTTHUMP00000231949;OTTHUMP00000231950;gamma-butyrobetaine dioxygenase;gamma-butyrobetaine hydroxylase;gamma-butyrobetaine,2-oxoglutarate dioxygenase 1 APPROVED protein-coding ENSG00000129151 964 04498 603312 REVIEWED 2300355 BBIP1 BBSome interacting protein 1 BBIP10 functions in ciliogenesis and stabilization of cytoplasmic microtubules (Loktev et al., 2008 [PubMed 19081074]).[supplied by OMIM, Nov 2010] 10 10 10 q25.2 106390095 106410721 - 112647496 112669114 - 112658488 112679124 - 6480464 15489334;15164054;14702039;12477932;20603001;19081074;19549489 92482 A8MTZ0;E9PIK7 ABBA01063020;AK021501;AK025724;AK307126;AK307314;AL158163;AMYH01003064;BC015550;BC062778;BC073157;BC104248;BC104249;BC105804;BC113000;BC113001;BI552279;DB450918;NM_001195304;NM_001195305;NM_001195306;NM_001195307;NM_001243783 A8MTZ0;NP_001182233;NP_001182234;NP_001182235;NP_001182236;NP_001230712 Hs.232543;Hs.651480 1664595;1670371;1673808;1717557;1739127;1754713;1796486;1851165;2140131;2146685;5015961 D10S1524;D15S1477;PDCD4_1402;RH122083;RH44657;RH45457;RH68025;SHGC-133074;SHGC-35716;SHGC-64020;STS-AA001983 BBIP10;NCRNA00081;bA348N5.3 BBSome-interacting protein 1;BBSome-interacting protein of 10 kDa;OTTHUMP00000231465;OTTHUMP00000231467;OTTHUMP00000231468;UPF0604 protein;non-protein coding RNA 81 APPROVED protein-coding ENSG00000214413 28093 613605 VALIDATED 1603548 BBS12 Bardet-Biedl syndrome 12 The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] 4 4 4 q27 121036879 121049116 + 123873307 123885548 + 123653857 123666098 + 6480464;7240710 19190184;17160889;14702039;12477932;20472660;20193073;20827784;20301537;22958920 166379 C9J8H7;Q6ZW61 ABBA01044741;AC053545;AK092949;AK123553;AMYH01014493;BC055426;BC065708;BX538148;CD359068;CH471056;NG_021203;NM_001178007;NM_152618 AAH55426;BAC04006;BAC85644;CAD98035;EAX05223;EAX05224;NP_001171478;NP_689831;Q6ZW61 Hs.400698 1697562;1777102;2119802 D4S2648;RH102291;SHGC-67243 C4orf24;FLJ35630;FLJ41559 Bardet-Biedl syndrome 12 protein;OTTHUMP00000164085;OTTHUMP00000196371 APPROVED protein-coding ENSG00000181004 26648 08759 209900;610683 REVIEWED 1316858 BBS1 Bardet-Biedl syndrome 1 Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008] 11 11 q13 66034695 66057660 + 66278119 66301084 + 1579968;1579969;1601314;6480464;7240710 12677556;12524598;14993910 18000879;17980398;17574030;19077438;18766993;17065520;15517396;15489334;15314642;14702039;12837689;12567324;12477932;12118255;11096143;10577922;10577921;9039982;18669544;19615732;20801516;20301537;23143442;21520335;21097510;19150989;21906983;21926972;16327777;22410627;22940089 582 B4DYY3;E7EQH1;E9PJ28;E9PMB7;E9PPR3;E9PQD9;E9PQK2;E9PR55;Q32MM9;Q8NFJ9 ABBA01024074;AF503941;AK027243;AK095638;AK294962;AK296311;AK302657;AMYH01003735;AP002748;BC047642;BC109064;BC109065;BX647612;CH471076;NG_009093;NM_024649 AAH47642;AAI09065;AAI09066;AAM92770;BAB15704;BAG58036;BAG59009;BAG63895;CAI46060;EAW74542;NP_078925;Q8NFJ9 Hs.502915 1698738;2116648 RH102931;SHGC-30733 BBS2L2;FLJ23590;MGC126183;MGC126184;MGC51114 BBS2-like protein 2;Bardet-Biedl syndrome 1 protein;OTTHUMP00000235218;OTTHUMP00000235220;OTTHUMP00000235221;OTTHUMP00000236623 APPROVED protein-coding ENSG00000174483;ENSG00000256349 966 01950 209900;209901 REVIEWED 1605944 BBS10 Bardet-Biedl syndrome 10 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010] 12 12 q21.2 75262397 75266353 - 76738266 76742222 - 6480464;7240710 17980398;19190184;17101080;16823392;16582908;16344560;15489334;14702039;12477932;20827784;20472660;20801516;17106446;17160889;20193073;8125298;20301537;20805367;22053931;23000965;23403234;21900206;21906983;23219996 79738 Q8TAM1 ABBA01053548;AC117491;AI673014;AK027213;AK225585;AK304178;AMYH01004599;BC013795;BC026355;CH471054;DA095453;DR155669;GN088052;NG_016357;NM_024685 AAH13795;AAH26355;ADZ15961;BAB15695;BAH14128;CAX86889;EAW97322;EAW97323;NP_078961;Q8TAM1 Hs.96322 1699188;2177157;2182723 G31485;RH103174;SGC44443 C12orf58;FLJ23560 Bardet-Biedl syndrome 10 protein;OTTHUMP00000190861 APPROVED protein-coding ENSG00000179941 26291 08036 209900;610148 REVIEWED 1321789 BBS5 Bardet-Biedl syndrome 5 This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008] 2 2 q31.1 170044252 170071411 + 170336006 170363165 + 1579974;1580863;6480464;7240710 15137946 17574030;11256614;19077438;18203199;16381901;15815621;15489336;15489334;16327777;15342556;14702039;12477932;11230166;11076863;10053027;9888993;8889549;20801516;20301537 129880 E9PBE3;F8WBR7;Q8N3I7 AA043704;ABBA01014888;ABBA01014889;ABBA01014890;AC093899;AK097935;AK312680;AL834305;AMYH01011247;AY604003;AY604004;BC044593;BP311042;CA336791;CD245392;CH471058;CS300753;H09195;NG_011567;NM_152384 AAH44593;AAT08182;AAT08183;AAY24116;CAD38975;CAK32417;CAL38098;EAX11276;EAX11277;EAX11278;EAX11279;NP_689597;Q8N3I7 Hs.233398 1653712;5020274 D2S1854;L18441 Bardet-Biedl syndrome 5 protein;OTTHUMP00000163062;OTTHUMP00000204766;OTTHUMP00000221822 APPROVED protein-coding ENSG00000163093 970 10353 209900;603650 REVIEWED 1319306 BBS4 Bardet-Biedl syndrome 4 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Jan 2009] 15 15 q22.3-q23 70765588 70817869 + 72978520 73030817 + 1579971;1601311;6480464;7240710 15107855;17003356 21145461;17574030;14520415;18299575;19077438;15497446;15489334;14702039;12872256;12477932;12365916;12016587;11381270;9126487;8889548;7711739;18000879;20379614;20508983;20801516;20301537;18029348;21906983;22219648 585 F5H7I8;H3BN76;H3BPP7;H3BQV7;H3BRY9;H3BSE2;H3BSL2;H3BU58;H3BUQ7;H3BUU1;H3BV56;Q96RK4 ABBA01038721;ABBA01038722;ABBA01038723;ABBA01038724;AC009712;AF359281;AK075321;AK298922;AK302224;AK303706;AK310106;AK314507;AMYH01006770;AY457143;BC008923;BC027624;BI562463;BM664845;BX647855;CH471082;DC320069;DC372967;NG_009416;NM_001252678;NM_033028;NR_045565;NR_045566 AAH08923;AAH27624;AAK58868;AAS13441;ABM82445;ABM85635;BAC11547;BAG37107;BAG61027;BAG64690;BAH13654;EAW77912;EAW77913;NP_001239607;NP_149017;Q96RK4 Hs.208681 1672642;1700188 D15S1270;RH103709 Bardet-Biedl syndrome 4 protein;OTTHUMP00000164777 APPROVED protein-coding ENSG00000140463 969 08982 209900;600374 REVIEWED 732435 BBS2 Bardet-Biedl syndrome 2 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with six other BBS proteins.[provided by RefSeq, Jan 2009] 16 16 q21 55075798 55111696 - 56518259 56554008 - 70665;734635;1601311;1579971;1580863;6480464;7240710 11285252;8298649;17003356;15107855 18000879;17574030;18299575;19077438;16344560;16189514;15489334;14702039;12872256;12837689;12677556;12567324;12477932;11567139;11096143;8889548;20801516;19666486;19913121;20628086;20301537;20618352;19150989;22505724;22797925;21963094;23000965;21906983;21890473;16327777 583 H3BNS7;H3BQ79;H3BRL0;J3QKP7;J3QLW0;Q9BXC9 AB208905;ABBA01025246;AC009155;AC026461;AC092140;AF342736;AK027635;AK127290;AK289604;AK309068;AL834176;AMYH01007690;BC014140;BM982214;CH471092;DA437930;DB316257;NG_009312;NM_031885 AAH14140;AAK28552;ABM83606;ABM86849;BAB55252;BAD92142;BAF82293;CAD38873;EAW82863;EAW82864;NP_114091;Q9BXC9 Hs.333738 1644493;1771635;2109079;5022200;5022450;5022578;5037552 A004I06;BBS2_8224;D10S275;D1S1423;D8S2279;L18426;STS-N93740 BBS;MGC20703 Bardet-Biedl syndrome 2 protein;bardet-biedl syndrome 2 (human) APPROVED protein-coding ENSG00000125124 967 05855 209900;606151 REVIEWED 1319511 BBS7 Bardet-Biedl syndrome 7 This gene encodes one of seven proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Feb 2011] 4 4 4 q27 120131451 120177481 - 122965085 123011092 - 122745484 122791652 - 1579975;6480464;7240710 12567324 16327777;18000879;17574030;19402160;19093007;19077438;15815621;15489334;14702039;12477932;11567139;20801516;20301537;16344560;20080638;20472660;20603001;21890473;21906983;20195357 55212 H0Y973;Q8IWZ6 ABBA01044731;ABBA01044732;AC079341;AF521643;AF521644;AI220177;AK001577;AK308076;AK309803;AMYH01014492;BC032691;BF431967;BG720664;BM998707;BQ940332;BX510161;CH471056;DB139794;NG_009111;NM_018190;NM_176824 AAH32691;AAO16025;AAO16026;AAY40970;ABM81814;ABM87809;BAA91767;EAX05244;EAX05245;NP_060660;NP_789794;Q8IWZ6 Hs.591694 1663932;1665396;2130253 SHGC-50595;STS-N20583;WI-3537 BBS2L1;FLJ10715 BBS2-like 1;BBS2-like protein 1;Bardet-Biedl syndrome 7 protein;OTTHUMP00000164091;OTTHUMP00000219992 2289563 BW441_H APPROVED protein-coding ENSG00000138686 18758 07399 209900;607590 REVIEWED 1603660 BBS9 Bardet-Biedl syndrome 9 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 7 7 p14 33135677 33612205 + 33169152 33645680 + 6480464;7240710 17574030;18349106;16380913;15489334;14702039;12690205;12618763;12477932;10221542;18029348;20801516;20161521;20379614;20301537;22479622;23160099 27241 C9JJ08;C9JRR5;E7EX43;E9PDC9;F8WCG5;H7BZ69;Q9Y6A0 AACC02000103;ABBA01056862;ABBA01056863;ABBA01056864;ABBA01056865;ABBA01056866;ABBA01056867;ABBA01056868;ABBA01056869;ABBA01056870;ABBA01056871;ABBA01056872;AC006195;AC007312;AC074338;AC078833;AC087070;AF095769;AF095770;AF095771;AK057660;AK091361;AK297436;AK314627;AL704922;AMYH01017166;BC032715;BC103831;BI254810;BX647385;CH471073;NG_009306;NM_001033604;NM_001033605;NM_014451;NM_198428;U85994;U85995;U85997;U87408 AAB46606;AAB47568;AAB61918;AAB61919;AAD25980;AAD25981;AAH32715;AAI03832;BAG51948;BAG52340;BAG59863;EAL24466;EAL24467;EAW94015;EAW94016;EAW94017;EAW94018;NP_001028776;NP_001028777;NP_055266;NP_940820;Q3SYG4 Hs.372360 1643644;1664815;1710026;1711808;1711810;1711812;1711814;1711816;1715161;1716343;1726423;1726543;1735636;1753113;1753259;1775086;1776119;1786316;1786452;1849003;1849026;1851466;1855944;2110279;2117528;2117533;2118248;2119313;2146539;2147940;2150895;2154300;2156448;2164966;2167973;2172548;2176129;2182952;5092660 A005O06;AFMb073zc9;B1__4409;D7S1654;D7S2045E;D7S2211;D7S2369;D7S2758;D7S3023;G16033;G16034;G16035;G17153;G32246;G49431;G49432;G49433;G49434;G49435;G62591;G62652;GDB:1317160;GDB:1317164;GDB:1317274;GDB:1317524;GDB:1317644;GDB:1317780;GDB:1318148;GDB:3754215;RH119831;RH121349;SHGC-110128;SHGC-154772;SHGC-172299;SHGC-68722;SHGC-82287;U10572;WI-14062;WI-16854 B1;C18;D1;MGC118917;PTHB1 OTTHUMP00000158833;OTTHUMP00000202918;OTTHUMP00000202919;OTTHUMP00000202920;PTH-responsive osteosarcoma B1 protein;bardet-Biedl syndrome 9 protein;parathyroid hormone-responsive B1 gene protein;protein PTHB1 APPROVED protein-coding ENSG00000122507 30000 16262 209900;607968 REVIEWED 1349826 BCAR2 breast cancer anti-estrogen resistance 2 9259413 9565 972 1347055 BCAP29 B-cell receptor-associated protein 29 7 7 7 q22.3 102025694 102069076 + 107007946 107058401 + 107220422 107263762 + 737633;1580863;6480464 12477932 18097552;16344560;15489334;15342556;14702039;12886015;12853948;11591653;10931946;10737800;8889548;20677014;20237496;21068099;21378988;21890473;21906983;19322201;19342655 55973 A6NME1;B7Z2L0;C9IYK6;C9JGJ9;C9JP06;C9JTE9;E9PAJ1;F8WB99;F8WDG1;H0Y7N8;H7C5E2;Q9UHQ4 AA826200;AACC02000004;ABBA01057906;AC004839;AC078937;AF126020;AI684765;AK000878;AK289401;AK294824;AK298594;AMYH01017830;AW978976;AW994087;BC008478;BE006248;BF434482;BG616638;BG776708;BG818947;BM023571;BM931263;BP261060;BQ188814;BQ230678;BT006981;BX101190;BX457671;BX647653;CH236947;CH471070;CK820004;DA569360;DA717500;EB388415;H40966;NM_001008405;NM_018844;NR_027830 AAC83971;AAF17230;AAH08478;AAP35627;BAF82090;BAH11896;BAH12820;EAL24390;EAW83405;EAW83406;EAW83407;EAW83408;EAW83409;EAW83410;EAW83411;NP_001008405;NP_061332;Q9UHQ4 Hs.303787 1647334;1652252;1657563;1659881;1677426;1848268;1851064;2138176;2163634;5037552 A007D21;D7S2087E;D7S2317;D8S2279;GDB:1318014;RH12603;RH91976;SGC30522;SHGC-56363;WI-15161 BAP29;DKFZp686M2086;FLJ53907 B-cell receptor-associated protein 29;BCR-associated protein 29;OTTHUMP00000206633;OTTHUMP00000206634;OTTHUMP00000206639;OTTHUMP00000214583;OTTHUMP00000214584;OTTHUMP00000214585;OTTHUMP00000214586 protein-coding ENSG00000075790 24131 16541 VALIDATED 1320282 BBX bobby sox homolog (Drosophila) 3 3 3 q13.1 105638147 105926340 + 108724480 109007399 + 107241783 107530050 + 1580863;6480464 19322201;19240061;16344560;15728473;15489334;14702039;12477932;9110174;8889548;8619474;11680820;11230166;19247474;21832049;19471022;19953087;21693764 56987 A2RRM7;A8K6U2;C9IYG9;C9IYS9;C9J067;C9J0J4;C9J8D0;C9JA69;C9JC04;C9JD74;C9JE62;C9JIZ2;C9JNU3;C9JSH4;C9JYU6;C9JZA0;C9K0D1;H7C1Q0;H7C1U1;Q8WY36 ABBA01061708;ABBA01061709;ABBA01061710;ABBA01061711;AC068765;AC072044;AC117477;AF052174;AF161457;AF168718;AF276948;AF276949;AF283775;AF454941;AF454942;AI168295;AK025944;AK026082;AK057010;AK130627;AK291757;AK307668;AK314434;AL136769;AL834307;AMYH01013378;AMYH01013379;AMYH01013380;AW131333;AY527413;BC012837;BC110903;BC131718;CH471052;CN479047;DA218136;NM_001142568;NM_001276286;NM_020235 AAF29017;AAF87320;AAH12837;AAI10904;AAI31719;AAL58870;AAL58871;AAL68984;AAL68985;ACE86845;ACE87532;BAB15290;BAB15355;BAC85398;BAF84446;CAB66703;CAD38977;EAW79738;EAW79739;EAW79740;EAW79741;EAW79742;EAW79743;NP_001136040;NP_001263215;NP_064620;Q8WY36 Hs.124366 1339705;1648873;1652995;1659620;1665245;1668564;1673850;1675090;1718787;1727361;1740075;1757103;1776953;1797082;2159051 BBX;D3S2308;D3S2443;D3S3099;D3S3499;D3S4229;G63088;RH123097;SHGC-144489;SHGC-58059;SHGC-77195;STS-N31990;WI-16360;WI-16426;WI-17954 ARTC1;HBP2;HSPC339;MDS001 Ag recognized by Treg cells 1;HMG box transcription factor BBX;HMG box-containing protein 2;OTTHUMP00000197189;OTTHUMP00000197190;OTTHUMP00000197192;OTTHUMP00000197193;OTTHUMP00000197194;x 001 protein protein-coding ENSG00000114439 14422 10688 VALIDATED 68545 BCAM basal cell adhesion molecule (Lutheran blood group) This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 19 19 q13.2 50004178 50016518 + 45312316 45324678 + 1580863;6480464 22404936;16236823;7954395;7777537;9166867;19201739;19065527;18815288;18635166;18514010;18510579;18302987;18067501;17638854;16584446;16335952;15790807;15489334;15278364;15238148;14755370;14641871;12754519;12493773;12477932;12244066;11319237;11133776;9642222;9192786;8781446;2907851;17087659;20655789;18972067;19667067;20370913;20562314;21858073;21139048;15342556;3810828;8889548;20566895;21434869;22941965;23001842;23125034;23160466;23168236;23192594;23406016;23421542 4059 K7ENU8;K7ERB7;P50895 ABBA01040885;ABBA01040886;AC092306;AMYH01009842;AMYH01009843;AY845133;AY927517;BC036745;BC050450;BC128254;BM985314;BP352029;BU838291;BX387680;CH471126;HE572749;NG_007480;NM_001013257;NM_005581;X80026;X83425 AAH50450;AAV88096;CAA56327;CAA58449;CCC42285;EAW57294;EAW57295;EAW57296;EAW57297;NP_001013275;NP_005572;P50895 Hs.625725 1677332;1680663;1682519;1694734 RH121966;RH81078;RH91124;RH91463 AU;CD239;LU;MSK19 Auberger b antigen;B-CAM cell surface glycoprotein;B-cell adhesion molecule;F8/G253 antigen;antigen identified by monoclonal antibody F8;basal cell adhesion molecule;basal cell adhesion molecule (Lu and Au blood groups);glycoprotein 95kDa;lutheran antigen;lutheran blood group glycoprotein APPROVED protein-coding ENSG00000187244 6722 00197 111200;247420;612773 REVIEWED 2299009 BCAR4 breast cancer anti-estrogen resistance 4 (non-protein coding) 16 16 16 p13.13 12088006 12097008 - 11913687 11922689 - 11913687 11922689 - 6480464 16778085;20859285;21506106 400500 ABBA01006834;AC010654;AMYH01007160;AMYH01007161;BX107175;HE601934;NR_024049;NR_024050 CCD83327 Hs.24611 1848316 SHGC-61055 APPROVED miscrna ENSG00000262117 22170 613746 VALIDATED 5129001 BCAS2P1 breast carcinoma amplified sequence 2 pseudogene 1 11 11 q14.1 82520728 82526391 + 82843080 82845400 + 100127960 ABBA01017366;AP000873;NG_021825 pseudo 39594 INFERRED 736888 BCAN brevican This gene encodes a member of the lectican family of chondroitin sulfate proteoglycans that is specifically expressed in the central nervous system. This protein is developmentally regulated and may function in the formation of the brain extracellular matrix. This protein is highly expressed in gliomas and may promote the growth and cell motility of brain tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 1 1 q31 154878364 154895944 + 156611740 156629324 + 6480464 18029348;16133547;16061654;15489334;14741698;14702039;14550776;14522884;12975309;12477932;11873941;11054543;11038354;10986281;9294172;7592978;18611854;19910543;20950796;16344560;21997179;22930747 63827 Q5T3I6;Q5T3I7;Q5T3I8;Q96GW7 AB209570;ABBA01016652;AF228710;AF229053;AK126588;AK289759;AL137504;AL365181;AL590666;AMYH01001437;AW298823;AY007241;AY358372;BC009117;BC010571;BC013234;BC022938;BC023209;BC027971;BC029313;BC029348;BC035457;CH471121;DB297352;NG_030013;NM_021948;NM_198427 AAG01897;AAG23134;AAG23135;AAH09117;AAH22938;AAH27971;AAQ88738;BAD92807;BAF82448;CAB70776;EAW52927;EAW52928;EAW52929;EAW52930;EAW52931;NP_068767;NP_940819;Q96GW7 Hs.516904 1665834;1711012;2156957;2161060;5037744 D1S3694;RH63843;SHGC-84885;WI-15716;WI-15733 BEHAB;CSPG7;MGC13038 OTTHUMP00000032164;OTTHUMP00000032165;brain-enriched hyaluronan-binding protein;brevican core protein;brevican proteoglycan;chondroitin sulfate proteoglycan 7;chondroitin sulfate proteoglycan BEHAB;chondroitin sulfate proteoglycan BEHAB/brevican APPROVED protein-coding ENSG00000132692 23059 02644;09821 600347 REVIEWED 5128965 BCAS2P2 breast carcinoma amplified sequence 2 pseudogene 2 1 1 99119723 99120345 - 100858592 100859214 - 100421045 ABBA01045439;AC104457;AMYH01000825;NG_026962 pseudo 39595 INFERRED 5128999 BCAS2P3 breast carcinoma amplified sequence 2 pseudogene 3 13 13 13 q31.1 60640336 60640998 + 78638357 78639028 + 79740362 79741024 + 100128339 ABBA01021685;AL161892;AMYH01005226;NG_021971 pseudo 39596 INFERRED 1349319 BCAP31 B-cell receptor-associated protein 31 This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012] X X q28 152619146 152643081 - 152965947 152990201 - 1580863;6480464;6907045 8706661;18684816;18555783;18287538;17056546;16858427;16381901;16344560;15772651;15489336;15489334;15294914;15254227;15024066;14702039;12886015;12668660;12594175;12529377;12477932;11992258;11917123;11851433;11561007;11163199;11076863;11042173;10958671;9396746;9334338;8612576;8125298;7806238;18029348;21183955;21103663;23284715;21151997;17500595;16196087;17558393;19519245;21285974;21527846;22056873;22182703;9804161;12605685;15933766;17003517;17401199;19165151;19221507;19342655;15161933;20360068;21947079;20639865;14741744;21139048;21890473;21906983;21963094;14502241;22190034;22505724 10134 C9J0M4;C9JM14;C9JMD7;C9JQ75;C9JSP1;P51572 ABBA01045364;ABBA01045365;ABBA01045366;ABBA01045367;AI123868;AK057613;AK125631;AK222494;AK223059;AMYH01023299;AMYH01023300;AU132745;BC014323;BC065292;BE729820;BG779815;BX474419;CH471172;CX164660;DA134013;DA819112;NG_023231;NM_001139441;NM_001139457;NM_001256447;NM_005745;U36341;U52111;X81109;Z31696 AAA79508;AAH14323;AAH65292;BAD96214;BAD96779;BAG51941;BAG54226;CAA57015;CAA83501;CAL37717;EAW72818;EAW72819;EAW72820;EAW72821;EAW72822;EAW72823;EAW72824;EAW72825;NP_001132913;NP_001132929;NP_001243376;NP_005736;P51572 Hs.522817 1336247;1683058;1702226;1702456;1744517;1744549;1744551;2126093;2147947;2182925;5016666 D5S651;DXS7418;DXS7452;GDB:511618;GDB:523970;GDB:524010;RH70615;RH71460;RH77716;RH79936;UniSTS:99200 6C6-AG;BAP31;CDM;DXS1357E 6C6-AG tumor-associated antigen;B-cell receptor-associated protein 31;BCR-associated protein Bap31;OTTHUMP00000025977;OTTHUMP00000025978;OTTHUMP00000025979;OTTHUMP00000025980;OTTHUMP00000025981;OTTHUMP00000025983;p28 Bap31 APPROVED protein-coding ENSG00000185825 16695 02319 300398 REVIEWED 734116 BCAR1 breast cancer anti-estrogen resistance 1 BCAR1, or CAS, is an Src (MIM 190090) family kinase substrate involved in various cellular events, including migration, survival, transformation, and invasion (Sawada et al., 2006 [PubMed 17129785]).[supplied by OMIM, May 2009] 16 16 q23.1 73820429 73843004 - 75262928 75301951 - 1579979;734988;6480464;6484113 11605729;9697697 9020138;9472046;10026197;16245368;9285683;10092204;9295052;10675905;10639512;11607844;19357231;19331827;19330798;19329671;19086031;19029090;18842495;18725541;18321991;18164686;18095869;18078823;17982677;17616674;17251438;17129785;17081983;17038317;16964243;16644720;16597701;16440329;16212419;16040804;15951569;15923424;15784259;15592455;15448007;15121874;14702039;12972425;12738793;12615911;9748234;10339567;10587647;11782456;14688263;16105984;8070403;8649368;12601080;12529399;12477932;12397603;12135674;11820787;11779709;11593413;11577104;11514617;11493697;11278335;11158326;11146654;11113628;11071869;10822386;10801330;10799562;10787408;10753828;10739664;10712510;10639513;10187783;10093970;9697683;9621077;9581808;9425168;9360983;9188452;8995252;8940134;8887669;8700507;8413311;8810278;8649427;9498705;16600665;18477472;22892392;8683103;22476538;15492270;14657239;11369773;10329689;10085298;9920935;7780740;8999909;10692442;12819203;12446789;12517963;10487518;12714323;9748319;11432831;10502414;11036077;16169070;15778465;9366405;8668148;15728191;9148935;10208419;10320483;11181995;12119061;12618476;15020686;15588985;15866871;16020549;16099422;16344560;16413489;16581250;17474147;19412734;19822523;19844255;19940159;7479864;8889548;8978305;9360968;9759889;21291860;16267043;20688056;19732724;21245381;21047529;23042269;20961652;21765937;22863883;22974441;21952639;21957230;15673687;21630091;22081014;23152477;10747099;11032817;21306301;21855630;22558353;21890473;22144090;22431919;22106368;21937722;22084245;22395610;17979178;23000965;23239970;22241677;23457408;11278916;11839772;12893833;18835194;19380743;22711540 9564 B2RBL9;B3KWE2;F5GXA2;F5H855;H3BN62;H3BP62;H3BQJ7;H3BSB2;H3BSY4;H3BTB0;H3BTL5;H3BU42;H3BVF0 AB040024;ABBA01058126;ABBA01058127;AC009078;AF218451;AJ242987;AK026121;AK027608;AK074958;AK124526;AK124815;AK124844;AK125719;AK127004;AK293808;AK294513;AK295809;AK302617;AK314722;AMYH01007819;AMYH01007820;AY545071;BC014402;BC062556;BU730553;CH471114;DA418642;DC310094;DC317947;NM_001170714;NM_001170715;NM_001170716;NM_001170717;NM_001170718;NM_001170719;NM_001170720;NM_001170721;NM_014567 AAF27527;AAH14402;AAH62556;AAS48631;ACE86415;ACE87091;BAA92711;BAB55230;BAC11315;BAG37266;BAG54047;BAG54099;BAG54104;BAG54238;BAG57215;BAG57726;BAG58627;BAH13763;CAB75875;EAW95651;EAW95652;EAW95653;EAW95654;EAW95655;EAW95656;NP_001164185;NP_001164186;NP_001164187;NP_001164188;NP_001164189;NP_001164190;NP_001164191;NP_001164192;NP_055382;P56945 Hs.479747 1341608;1712074;1720329;1766915;1795416 BCAR1_714;D16S3051;G54085;RH123913;SHGC-152387 CAS;CAS1;CASS1;CRKAS;FLJ12176;FLJ45059;P130Cas Cas scaffolding protein family member 1;Crk-associated substrate p130Cas;OTTHUMP00000174941;OTTHUMP00000174942;breast cancer anti-estrogen resistance protein 1;v-crk-associated tyrosine kinase substrate APPROVED protein-coding ENSG00000050820 971 04248 602941 VALIDATED 1323276 BCAR3 breast cancer anti-estrogen resistance 3 Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 1 1 p22.1 93799936 93919973 - 94027343 94312706 - 1580863;6480464 17353931;9582273;18722344;17616674;17427198;17270363;17081983;16964243;16710414;15671247;15642172;15489334;14702039;12975309;12517963;12477932;10187783;9436634;8880875;19913121;20628086;19454314;19940159;21832049;15146197;16344560;21262352;22711540 8412 B3KNL6;B3KP06;O75815 ABBA01045519;ABBA01045520;ABBA01045521;ABBA01045522;ABBA01045523;AF124250;AK027785;AK055442;AK301570;AK310970;AL049796;AL109613;AL359820;AL512488;AL833121;AMYH01000802;AMYH01000803;AMYH01000804;AMYH01000805;AY358996;BC028477;BC039895;BQ015705;CH471097;CN337133;DA057195;DA745974;NM_001261408;NM_001261409;NM_001261410;NM_003567;U92715 AAC39777;AAD28245;AAH39895;AAQ89355;ACE87803;ACT64456;BAG51378;BAG51518;BAG63064;EAW73065;EAW73066;EAW73067;EAW73068;NP_001248337;NP_001248338;NP_001248339;NP_003558;O75815 Hs.36958 1651149;1657995;1665824;1670638;1757223;1778402;1849766;1849768;1853598;1854370;2115094;2130441;2155675 A001Z29;AL009351;G19821;RH11826;RH18230;RH64611;SHGC-144640;SHGC-33752;SHGC-75137;SHGC-75138;SHGC-75160;SHGC-75163;WI-18126 KIAA0554;NSP2;SH2D3B OTTHUMP00000011959;OTTHUMP00000011960;OTTHUMP00000011961;OTTHUMP00000011962;SH2 domain-containing protein 3B;breast cancer anti-estrogen resistance protein 3;breast cancer antiestrogen resistance 3 protein;dJ1033H22.2 (breast cancer anti-estrogen resistance 3);novel SH2-containing protein 2 APPROVED protein-coding ENSG00000137936 973 05268 604704 REVIEWED 1351231 BCAS1 breast carcinoma amplified sequence 1 This gene resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. Among the genes identified from this region, it was found to be highly expressed in three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, this gene is not in the common region of maximal amplification and its expression was not detected in the breast cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, this gene is a candidate oncogene. [provided by RefSeq, Jul 2008] 20 20 20 q13.2 49264729 49391950 - 51993924 52120490 - 52560079 52687304 - 6480464 17353931;15583422;15489334;14567997;12477932;11780052;11148209;10857754;9671742;8758909;8125298;20889312;20379614 8537 B4DFL4;B4E2C4;G3XAF7;H0Y542;H7C1E7;O75363 ABBA01052869;ABBA01052870;AC004501;AC005220;AF041260;AK225656;AK294135;AK294150;AK295318;AK304213;AK308384;AK311215;AK315220;AK316038;AL354801;AMYH01011995;AMYH01011996;BC024044;BC126346;BC126348;CH471077;CR749643;NM_003657 AAC39896;AAH24044;AAI26347;AAI26349;ADR83077;ADR83308;BAG37652;BAG57463;BAG57475;BAG58295;BAG65086;BAH14409;CAH18437;EAW75574;EAW75575;EAW75576;NP_003648;O75363 Hs.400556 1334718;1645838;1665329;1667221;1854203;2121816;2122549;2137350;2137352;2140881 A004M22;AL022246;D20S1085;D20S720;D6S1155E;RH47737;RH78040;STS-Z41321;Z94303;Z94440 AIBC1;NABC1 OTTHUMP00000031313;OTTHUMP00000165942;OTTHUMP00000165943;amplified and overexpressed in breast cancer;breast carcinoma-amplified sequence 1;novel amplified in breast cancer 1 APPROVED protein-coding ENSG00000064787 974 04273 602968 REVIEWED 1315129 BCAS2 breast carcinoma amplified sequence 2 1 1 1 p13.2 113339412 113353499 - 114911701 114925788 - 115110178 115124265 - 1580863;6480464;6907045 21145461;9731529;17353931;12169396;16710414;15694360;15489334;12477932;12429849;12406557;10403562;8125298;11101529;19903847;16159877;22939629;23084401;23314748;17332742;21628590;20360068;21139048;21906983;20176811;21536736 10286 B2R7W3;O75934 AB020623;AB451245;AB451369;ABBA01068464;AF081788;AK222637;AK313141;AL390241;AMYH01000966;BC005285;BC012623;BC022880;BC039238;BF184377;BT019390;CH471122;CQ831058;CR542037;NM_005872 AAC64059;AAH05285;AAH12623;AAH22880;AAV38197;ABM83455;ABW03501;ACE87016;ACE87704;BAA34863;BAD96357;BAG35960;BAG70059;BAG70183;CAG46834;CAH05197;EAW56602;EAW56603;EAW56604;NP_005863;O75934 Hs.22960 1739815;2170546;2190561 D1S2509E;EST28B4;SHGC-36835 DAM1;SPF27;Snt309 DNA amplified in mammary carcinoma 1 protein;OTTHUMP00000013668;breast carcinoma-amplified sequence 2;pre-mRNA-splicing factor SPF27;spliceosome associated protein, amplified in breast cancer;spliceosome-associated protein SPF 27 protein-coding ENSG00000116752 975 05777 605783 VALIDATED 1319844 BCAS3 breast carcinoma amplified sequence 3 17 17 17 q23 57855963 58571253 + 56109954 56824981 + 58755172 59470199 + 1580863;2317828;6480464 16855396 18391951;18030336;17505058;16617102;16344560;15489334;14702039;12477932;12378525;8125298;22797727;20548946;20546612;20383146;21742584;21906983;22610502;23251661;23263486;23535033 54828 K7EIE2;K7EIR7;K7EJH7;K7EJU7;K7EKB0;K7ELH0;K7EML5;K7EQA6;K7ESE9;Q05D99;Q9BVF0 ABBA01035385;ABBA01035386;ABBA01035387;ABBA01035388;ABBA01035389;ABBA01035390;ABBA01035391;ABBA01035392;ABBA01035393;ABBA01035394;ABBA01035395;ABBA01035396;ABBA01035397;ABBA01035398;ABBA01035399;ABBA01035400;ABBA01035401;AC005746;AC005856;AC005884;AC015876;AC079005;AC110602;AF260268;AF361219;AJ511332;AJ518105;AJ518836;AK000135;AK022526;AK023054;AK025510;AK225757;AK304791;AK314744;AL831895;AMYH01008531;AMYH01008532;BC001250;BC013841;BC017390;BC029983;BC033220;BC036280;BC117275;BC143386;BC143387;BX648103;CA444316;CH471179;DA188234;DA789232;NM_001099432;NM_017679 AAF70324;AAH01250;AAH17390;AAI17276;AAI43387;AAI43388;AAL99632;BAA90966;BAB14078;BAB14380;BAB15156;BAG37284;BAG65541;CAD38568;CAD54076;CAD57723;CAD57724;EAW51410;EAW51411;EAW51412;EAW51413;EAW51414;EAW51415;EAW51416;NP_001092902;NP_060149;Q9H6U6 Hs.655028 1335941;1654952;1662022;1675734;1681046;1698070;1718409;1729851;1778005;1794386;1794388;1794392;1794394;2116860;2147771;2149297;2164941;2165830;2173837;2176565;2190839;5020843;5120227;5120917;7186314 A008N15;AFMa348zg1;D17S1838;D17S603;D17S688;FCA082;GDB:213539;PMC311067P2;PMC311067P3;PMC311067P5;PMC311067P6;RH102567;RH11846;RH122979;RH45637;RH46138;RH77934;RH78352;RH79698;RH99142;SHGC-36265;STS-N93418;STS-T62860;WI-18428 DKFZp686O1527;FLJ20128;GAOB1;MAAB;MGC4973 BCAS4/BCAS3 fusion;breast carcinoma amplified sequence 4/3 fusion protein;breast carcinoma-amplified sequence 3;metastasis associated antigen of breast cancer;protein Maab1 protein-coding ENSG00000141376 14347 06313 607470 VALIDATED 1343415 BCGF1 B-cell growth factor 1, 12kDa 1580863 7698329 588 P20931 981 6766505 BCDIN3D-AS1 BCDIN3D antisense RNA 1 12 q13.13 50222326 50234937 + 14702039;16344560;16712791 100286844 ABBA01031537;ABBA01031538;AC131157;AI193197;AK055142;AMYH01004447;BC014925;CB153643;DA122615;NR_027499;NR_027500;NR_027501 Hs.656019 1683128;2117456 RH79782;SHGC-17415 APPROVED miscrna ENSG00000258057 44113 VALIDATED 1352594 BCAS4 breast carcinoma amplified sequence 4 20 20 20 q13.13 46115734 46197974 + 48844874 48927121 + 49411467 49493714 + 6480464 15489334;15342556;14702039;12477932;12378525;11780052;21906983 55653 H7BXG3;H7C018;H7C4Y8;Q8TDL9 ABBA01052786;ABBA01052787;ABBA01052788;ABBA01052789;ABBA01052790;AF361220;AJ511266;AK000502;AL031680;AL133228;AMYH01011975;AMYH01011976;BC038381;BC047337;BC056883;BP212127;CH471077;NM_001010974;NM_017843;NM_198799 AAH38381;AAH47337;AAL99633;BAA91209;CAD53579;EAW75613;EAW75614;NP_001010974;NP_060313;NP_942094;Q8TDM0 Hs.381178 1772685;2149946;2220552 RH65330;SHGC-64933;UniSTS:484435 CNOL;FLJ20495 BCAS4/BCAS3 fusion;OTTHUMP00000031272;OTTHUMP00000031273;OTTHUMP00000031274;OTTHUMP00000215950;breast carcinoma amplified sequence 4/3 fusion protein;breast carcinoma-amplified sequence 4 protein-coding ENSG00000124243 14367 06314 607471 VALIDATED 1345403 BCAT1 branched chain amino-acid transaminase 1, cytosolic This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010] 12 12 p12.1 24855545 24993499 - 24962958 25102393 - 67954;631308;1580863;6480464;6907045 9165094;10686349 6933702;8692959;19260141;19119849;18419134;18074675;17846126;17007058;14702039;12477932;10471790;9657861;8889548;7566098;15231748;16141215;20062060;20379614;20339536;19913121;20628086;20639392;20734064;20877624;23043456;22863883;23000965;21139048;21987572;22107788;23400010 586 F5H2F2;P54687 AA376058;ABBA01068010;ABBA01068011;ABBA01068012;ABBA01068013;AC023796;AC026310;AC092867;AF277179;AK024923;AK025615;AK056255;AK128527;AK294879;AK299088;AL390172;AMYH01004335;AMYH01004336;AMYH01004337;BC026006;BC033864;BM458559;BU618839;BU730066;BX474651;BX647122;CH471094;CR749308;DC385021;NG_008170;NM_001178091;NM_001178092;NM_001178093;NM_001178094;NM_005504;U21551 AAB08528;BAB71129;BAG54689;BAH11911;BAH12946;CAH18163;EAW96497;EAW96498;EAW96499;NP_001171562;NP_001171563;NP_001171564;NP_001171565;NP_005495;P54687 Hs.438993 1335547;1649672;1653965;1699414;1722893;2107885;2138464;2140437 BCAT1_8225;D12S1435;D12S1617;D12S1956;G60541;RH103298;RH44650;SHGC-57548 BCATC;BCT1;DKFZp686E12175;ECA39;MECA39;PNAS-121;PNAS121;PP18 OTTHUMP00000240002;OTTHUMP00000240003;OTTHUMP00000240004;OTTHUMP00000240005;OTTHUMP00000240006;branched chain aminotransferase 1, cytosolic;branched-chain-amino-acid aminotransferase, cytosolic;placental protein 18 APPROVED protein-coding ENSG00000060982 976 00216 113520 REVIEWED 1601723 BCDIN3D BCDIN3 domain containing 12 12 12 q13.12 49025845 49032931 - 48517823 48523142 - 50229826 50236912 - 6480464 19079260;12477932;21145461;19557197;20215397;17207965;20712903;20724581;20816195;23063121;21890473;19322201 144233 Q7Z5W3 ABBA01031538;AC131157;AK292194;AMYH01004447;BC040957;BC053560;BU622810;CD690663;CH471111;NM_181708 AAH53560;ADQ32577;BAF84883;EAW58101;NP_859059;Q7Z5W3 Hs.142736 1683128;2117456;5014051;5021872;5022200;5037552 D8S2278;D8S2279;L18426;RH79782;SHGC-17415;sY3084 BCDIN3 domain-containing protein;OTTHUMP00000242155;pre-miRNA 5'-monophosphate methyltransferase;probable methyltransferase BCDIN3D protein-coding 27050 14065 VALIDATED 69002 BCAT2 branched chain amino-acid transaminase 2, mitochondrial This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 19 19 q13 53990131 54006113 - 49298319 49314320 - 67954;1300291;1582175;1580863;1300048;6480464;6907045 9165094;14755340;11733007 17050531;16141215;15489334;15182179;14702039;12686109;12477932;12269802;12119021;11264579;11170829;9665099;9657861;9478945;8125298;6933702;3896163;19119849;8702755;16344560;8889548;20877624;23043456;21832049;21963094;21988832;22107788;21890473;21906983 587 B3KSI3;M0QXF9;M0QZ10;M0QZP4;M0R2K7;O15382 ABBA01032966;AC026803;AF268047;AF268048;AK023909;AK093627;AK223522;AK309428;AK310101;AK310243;AK314548;AMYH01009908;BC001900;BC004243;BE139200;BM802402;BU178552;CA310873;CB049110;CH471177;DA129578;DC395685;HC897076;NG_013003;NM_001164773;NM_001190;NR_028450;NR_028451;U62739;U68418 AAB53087;AAB67672;AAH01900;AAH04243;AAK38368;AAK38369;ABM83276;ABM86480;BAD97242;BAG37134;BAG52745;CBN62949;EAW52403;NP_001158245;NP_001181;O15382 Hs.512670 2107887 BCAT2_8226 BCAM;BCATM;BCT2;PP18 branched chain aminotransferase 2, mitochondrial;branched-chain-amino-acid aminotransferase, mitochondrial;placental protein 18 APPROVED protein-coding ENSG00000105552 977 00217 113530 REVIEWED 1351460 BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008] 6 6 q14.1 80873083 81112706 + 80816344 81055987 + 1599466;1599467;1580863;6480464;6907045;7240710 2022752;9460082 2365818;11839747;12902323;18378174;17922217;17524396;17329260;16472748;15489334;15166214;12477932;11509994;8651316;8161368;7918575;2335211;1889817;1860867;21145461;19480318;20379614;10745006;20877624;20301495;22593002;23313820;23400010;15576032 594 P21953;Q5T2J3 ABBA01040421;AK289977;AK304353;AK310838;AK316545;AL049696;AL391595;AMYH01016460;BC034481;BC040139;BM553932;BT020063;CH471051;D90391;DB548202;DC372349;M55575;NG_009775;NM_000056;NM_183050;U50708;U51015;U51016;X52446 AAA51812;AAB09779;AAB09780;AAB16763;AAH34481;AAH40139;AAV38866;BAA14389;BAF82666;BAG65195;BAH14916;CAA36685;EAW48696;EAW48697;EAW48698;NP_000047;NP_898871;P21953 Hs.654441 1664805;1671199;1698358;1754149;1777514;2115069;2118994;2127678;5015404;5020740;5022651;5024413;5037552;5092670;5122325;7190931;7190935 A005P24;D11S2921;D6S1762;D6S1856;D6S1866;D8S2279;G32255;L17705;L17809;L17877;RH102720;RH15773;RH46797;SHGC-132178;SHGC-36275 E1B;FLJ17880;dJ279A18.1 2-oxoisovalerate dehydrogenase beta subunit;2-oxoisovalerate dehydrogenase subunit beta, mitochondrial;BCKDE1B;BCKDH E1-beta;E1b-beta subunit of the branched-chain complex;OTTHUMP00000018048;OTTHUMP00000018049;branched chain alpha-ketoacid dehydrogenase E1-beta subunit;branched-chain alpha-keto acid dehydrogenase E1 component beta chain APPROVED protein-coding ENSG00000083123 987 02011 248600;248611 REVIEWED 732174 BCHE butyrylcholinesterase Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. [provided by RefSeq, Jul 2008] 3 3 q26.1-q26.2 166973386 167037947 - 165490692 165555253 - 1599458;1331525;734636;1601328;1599454;1580863;1601317;1601321;1601322;1601335;2306780;2306781;2306778;2306779;2306782;2306783;2306776;2306777;5687326;5688055;5687325;5687328;5687327;5687690;5688056;5688128;5688132;5688134;5688133;5688130;6480464;5688127;7240710 16187484;15118671;2915989;9694584;16442260;15907830;15219807;12387587;8149699;16442234;12379509;17275003;17026497;11793025;11478742;17917325;17852836;22123563;17657467;22157615;20138875;22012848;20122907;16973370;21921108;12383920;21771623;7634486;21303225;2953866 18555211;18550040;18422653;18334913;18322399;18300943;18290843;18237553;18165570;18076380;18075469;17996334;17923322;17768338;17701416;17700357;17698511;17690023;17660298;17503475;17410321;17350607;17335779;17192624;17116317;16962996;16909200;16824336;16801396;16788378;16731619;16504521;16429499;16344560;16335952;16298355;16289064;16288482;16278840;16213467;16105444;16020944;18778798;18640242;15834019;15802910;15781196;15731585;15696543;15690550;15519745;15489334;15465921;15449725;15386241;15258737;15111428;15060281;14760718;14735258;14686935;14622273;12901493;12881446;12869558;12811800;12724618;12687586;12668920;12477932;12417112;12387584;12130740;12074828;12044901;12009429;12003252;11856351;11856322;11849755;11848688;11749053;11738493;11725818;11436125;11125748;10529218;9673783;9543549;8680411;8063698;3542989;3477799;3115973;3067729;3035536;2339692;2322535;1769658;1769657;8930175;11569538;8622553;14718574;19217865;19156168;19056482;19019080;19010318;19006190;18780301;20538374;20886866;20677742;21029050;20879632;20356562;20399202;17318303;18457821;19383604;19452557;19481150;19578796;19617863;19685167;19956635;20056567;20058037;20143968;20193849;20308990;20379614;19474452;20883446;20445134;19913121;20529763;20628086;20644562;21454498;23092211;21530486;21402063;21493754;19713000;22040426;21473860;21547979;20807286;21576115;22901043;22750491;22294139;21943158;21862451;22331678;23508960;22917637;22922115;22935510;23000450;23022600;23044488;23063927;23123771;23419831;22560633;2318303 590 F8WEX7;F8WF14;H0Y885;H7C4Y0;P06276;Q96HL2 ABBA01058744;ABBA01058745;AC009811;AK292063;AMYH01013633;BC008396;BC018141;BF056152;CH471052;DA426203;M16474;M16541;M32391;NG_009031;NM_000055 AAA52015;AAA98113;AAA99296;AAH08396;AAH18141;ABM81967;ABM85146;BAF84752;EAW78591;EAW78592;EAW78593;EAW78594;NP_000046;P06276 Hs.420483 1740979;1741075;1741077;1743635;1743637;1744891;1744893;1744895;1744897;1745731;1745733;1746115;1751331;1858313;2106443;2113732;2175496;2176253 BCHE;BCHE_4440;D3S3886;G64459;GDB:177095;GDB:177651;GDB:177652;GDB:363550;GDB:363553;GDB:580568;GDB:580574;GDB:580578;GDB:580581;GDB:632859;GDB:632866;SHGC-105146;STS-M16541;WI-18944 CHE1;CHE2;E1 OTTHUMP00000212636;acylcholine acylhydrolase;butyrylcholine esterase;choline esterase II;cholinesterase;cholinesterase (serum) 2;cholinesterase 1;pseudocholinesterase APPROVED protein-coding ENSG00000114200 983 01519 177400 REVIEWED 734102 BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 19 19 q13.1-q13.2 46595544 46622750 + 41903694 41930910 + 1599467;734637;737779;1580863;6480464;6907045;7240710 9460082;1943689;8037208 3224821;7883996;11839747;19480318;19456321;18378174;17922217;17353931;17081983;15489334;15322287;12902323;12812918;12477932;10745006;9582350;8889548;8161368;7918575;3379058;2914958;2805821;2703538;2241958;2060625;1889817;1885764;1867199;1861457;1682165;1420356;1356170;19715473;20136525;15166214;20877624;20301495;22593002;19085071;21844576;21145461;22956686;15576032 593 B4DP47;F5GXU9;F5H5P2;H0YH20;H0YH31;P12694;Q59EI3 AB209828;ABBA01040807;ABBA01040808;AC011462;AK298188;AK313300;AL833143;AMYH01009819;AMYH01009820;BC007878;BC008933;BC023983;BE223026;BG742673;BI910860;BM702667;BQ018849;CH471126;J04474;M22221;NG_013004;NM_000709;NM_001164783;S38309;Z14093 AAA35590;AAB19267;AAB59549;AAH07878;AAH08933;AAH23983;BAD93065;BAG36106;BAG60459;CAA78475;CAH56215;EAW57039;EAW57040;NP_000700;NP_001158255;P12694 Hs.433307 1743925;1743927;1743929;1854126;2107889;2116901;2136320;2142506;2142508;2156652;2172606;5017657;5092382;5120840;5491671 A005U20;A007H11;BCKDHA;BCKDHA_8227;G20507;G54154;GDB:375700;GDB:375706;GDB:375709;GDB:375712;IB1022;MARC_7273-7274:996687712:3;RH35849;SHGC-12313;SHGC-24398 BCKDE1A;FLJ45695;MSU;MSUD1;OVD1A 2-oxoisovalerate dehydrogenase (lipoamide);2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial;BCKDH E1-alpha;OTTHUMP00000238014;OTTHUMP00000238015;OTTHUMP00000238024;OTTHUMP00000238025;branched-chain alpha-keto acid dehydrogenase E1 component alpha chain APPROVED protein-coding ENSG00000248098 986 02009 248600;608348 REVIEWED 1316516 BCCIP BRCA2 and CDKN1A interacting protein This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 10 10 q26.1 127502105 127532080 + 127512104 127542264 + 1580863;6480464 18440304;18950845;18773424;18413737;18299662;17947333;17452982;17353931;17135243;17081983;16341674;16247447;16189514;16169070;15713648;15539944;15489334;15231748;15164054;14726710;14702039;12527204;12477932;11836363;10878006;11754111;11748848;11313963;8889548;1571364;19578363;19653894;19713748;19861517;17620012;23383273;22939629;21900206;21139048;21890473;21906983;17627904;22318606;22863883;22990118 56647 B4E318;Q9P287 AA806484;AB040450;AB040451;ABBA01034170;ABBA01034171;AK055691;AK092054;AK300767;AK304529;AL360176;AL834458;AMYH01003163;AY064247;AY064248;AY064249;AY092061;BC009771;BM741863;BM905542;BM974496;BQ008485;CH471066;NG_029095;NM_016567;NM_078468;NM_078469 AAH09771;AAL55436;AAL55438;AAL55439;AAL55440;BAA92927;BAA92928;BAG51557;BAG62432;BAG65330;CAD39118;EAW49218;EAW49219;EAW49220;NP_057651;NP_510868;NP_510869;Q9P287 Hs.370292;Hs.715543 1656255;1683211;1736142;1789090;2145466;2161201;2172859;2184295;2186394;5491958;7185551 A004G05;D10S1398E;DHX32;G65680;RH44594;RH98320;SGC34496;SHGC-33832;STS-AA036771;WI-11581 TOK-1;TOK1 BCCIPalpha;BCCIPbeta;BRCA2 and CDKN1A-interacting protein;BRCA2 and Cip1/p21 interacting protein;OTTHUMP00000020714;OTTHUMP00000020715;OTTHUMP00000020716;TOK-1alpha;TOK-1beta;cdk inhibitor p21 binding protein;p21- and CDK-associated protein 1;protein TOK-1 APPROVED protein-coding ENSG00000107949 978 16542 611883 REVIEWED 1322422 BCL11B B-cell CLL/lymphoma 11B (zinc finger protein) This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. The specific function of this gene has not yet been determined. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported. [provided by RefSeq, Jul 2008] 14 14 q32.2 98705377 98807575 - 99635624 99737822 - 1580863;6480464 22245141;19399189;18768194;18595722;17369851;17308084;17245431;16950772;16091750;15668700;15325104;15104287;12930829;12692243;12565905;12196208;11719382;10744719;19366371;19581932;16809611;19454010;20824091;15849318;21080944;22450536;21060114;21878675;22068335;22318606;23168072;23383087;23752268;22969067;23040356;23022380;22067449;22077140;22505724;22700985 64919 D3YTK1;L8B567;L8B7P7;Q9C0K0 AB041218;AB043584;AB057668;AB057669;AB057670;ABBA01048566;ABBA01048567;AF086271;AJ404614;AL109767;AL162151;AL359681;AMYH01005988;AMYH01005989;CH471061;FB736423;NG_027894;NM_022898;NM_138576 AAI56140;BAB32731;BAM78282;BAM78283;BAM78284;BAM78285;CAC17726;CAX20397;EAW81662;EAW81663;NP_075049;NP_612808;Q9C0K0 Hs.709690 1659376;1698748;1751467;1763487;1764387;1799512;1799960;1800000;1800126;1800776;1801104;1801556;1801612;1801678;1802338;1802582;1802648;1802762;1802828;1802884;1802886;1803170;1803228;1803230;1803350;1803380;1803382;1803434;1803682;1803858;1804170;1804172;1804372;1804658;1804742;1805150;1805562;1805638;1807402;1808074;1808482;1809526;1809812;1809938;1809986;1810386;1810388;1810390;1810588;1810658;1810734;1810818;1810892;1810894;1811494;1811670;1812142;1812416;1812694;1812696;1813272;1813274;1813276;1813636;1813704;1814026;1814398;1814970;1815588;1816168;1817348;1817350;1818128;1818776;1819044;1819154;1819296;1819428;1819690;1819766;1820182;1820450;1821108;1821242;1821244;1823222;1823224;1823298;1823382;1823558;1823730;1823852;1824536;1824852;1824924;1825096;1825406;1826034;1826472;1826474;1826740;1826834;1827360;1827442;1827628;1827850;1828412;1828574;1830724;1830822;1831846;1833566;1834242;1835014;1835296;1835332;1835512;1837060;1837380;1837890;1837982;1838560;1838662;1838792;1839130;1839886;1840130;1840760;1840762;1841126;1841730;1842166;1843186;1844124;1844126;1845248;1953650;1953652;1953654;1953656;1953658;1953660;1953662;1953664;1953666;1953668;1953670;1953672;1953674;1953676;1953678;1953680;1953682;1953684;1953686;1953688;1953690;1953692;1953694;1953696;1953698;1953700;1953702;1953704;1953706;1953708;1953710;1953712;1953714;1953716;1953718;1953720;1953722;1953724;1953726;1953728;1953730;1953732;1953734;1953736;1953738;1953740;1953742;1953744;1953746;1953748;1953750;1953752;1953754;1953756;1953758;1953760;1953762;1953764;1953766;1953768;1953770;1953772;1953774;1953776;1953778;1953780;1953782;1953784;1953786;1953788;1953790;1953792;1953794;1953796;1953798;1953800;1953802;1953804;1953806;1953808;1953810;1953812;1953814;1953816;1953818;1953820;1953822;1953824;1953826;1953828;1953830;1953832;1953834;1953836;1953838;1953840;1953842;1953844;1953846;1953848;1953850;1953852;1953854;1953856;1953858;1953860;1953862;1953864;1953866;1953868;1953870;1953872;1953874;1953876;1953878;1953880;1953882;1953884;1953886;1953888;1953890;1953892;1953894;1953896;1953898;1953900;1953902;1953904;1953906;1953908;1953910;1953912;1953914;1953916;1953918;1953920;1953922;1953924;1953926;1953928;1953930;1953932;1953934;1953936;1953938;1953940;1953942;1953944;1953946;1953948;1953950;1953952;1953954;1953956;1953958;1953960;1953962;1953964;1953966;1953968;1953970;1953972;1953974;1953976;1953978;1953980;1953982;1953984;1953986;1953988;1953990;1953992;1953994;1953996;1953998;1954000;1954002;1954004;1954006;1954008;1954010;1954012;1954014;1954016;1954018;1954020;1954022;1954024;1954026;1954028;1954030;1954032;1954034;1954036;1954038;1954040;1954042;1954044;1954046;1954048;1954050;1954052;1954054;1954056;1954058;1954060;1954062;1954064;1954066;1954068;1954070;1954072;1954074;1954076;1954078;1954080;1954082;1954084;1954086;1954088;1954090;1954092;1954094;1954096;1954098;1954100;1954102;1954104;1954106;1954108;1954110;1954112;1954114;1954116;1954118;1954120;1954122;1954124;1954126;1954128;1954130;1954132;1954134;1954136;1954138;1954140;1954142;1954144;1954146;1954148;1954150;1954152;1954154;1954156;1954158;1954160;1954162;1954164;1954166;1954168;1954170;1954172;1954174;1954176;1954178;1954180;1954182;1954184;1954186;1954188;1954190;1954192;1954194;1954196;1954198;1954200;1954202;1954204;1954206;1954208;1954210;1954212;1954214;1954216;1954218;1954220;1954222;1954224;1954226;1954228;1954230;1954232;1954234;1954236;1954238;1954240;1954242;1954244;1954246;1954248;1954250;1954252;1954254;1954256;1954258;1954260;1954262;1954264;1954266;1954268;1954270;1954272;1954274;1954276;1954278;1954280;1954282;1954284;1954286;1954288;1954290;1954292;1954294;1954296;1954298;1954300;1954302;1954304;1954306;1954308;1954310;1954312;1954314;1954316;1954318;1954320;1954322;1954324;1954326;1954328;1954330;1954332;1954334;1954336;1954338;1954340;1954342;1954344;1954346;1954348;1954350;1954352;1954354;1954356;1954358;1954360;1954362;1954364;1954366;1954368;1954370;1954372;1954374;1954376;1954378;1954380;1954382;1954384;1954386;1954388;1954390;1954392;1954394;1954396;1954398;1954400;1954402;1954404;1954406;1954408;1954410;1954412;1954414;1954416;1954418;1954420;1954422;1954424;1954426;1954428;1954430;1954432;1954434;1954436;1954438;1954440;1954442;1954444;1954446;1954448;1954450;1954452;1954454;1954456;1954458;1954460;1954462;1954464;1954466;1954468;1954470;1954472;1954474;1954476;1954478;1954480;1954482;1954484;1954486;1954488;1954490;1954492;1954494;1954496;1954498;1954500;1954502;1954504;1954506;1954508;1954510;1954512;1954514;1954516;1954518;1954520;1954522;1954524;1954526;1954528;1954530;1954532;1954534;1954536;1954538;1954540;1954542;1954544;1954546;1954548;1954550;1954552;1954554;1954556;1954558;1954560;1954562;1954564;1954566;1954568;2108707;2144356;2212280;2212282;2212284;2212286;2212288;2212290;2212292;2212294;2212296;2212298;2212300;2212302;2212304;2212306;2212308;2212310;2212312;2212314;2212316;2212318;2212320;2212322;2212324;2212326;2212328;2212330;2212332;2212334;2212336;2212338;2212340;2212342;2212344;2212346;2212348;2212350;2212352;2212354;2212356;2212358;2212360;2212362;2212364;2212366;2212368;2212370;2212372;2212374;2212376;2212378;2212380;2212382;2212384;2212386;2212388;2212390;2212392;2212394;2212396;2212398;2212400;2212402;2212404;2212406;2212408;2212410;2212412;2212414;2212416;2212418;2212420;2212422;2212424;2212426;2212428;2212430;2212432;2212434;5096437 BCL11B_101.2;ECD00608;ECD00834;ECD00854;ECD00919;ECD01250;ECD01421;ECD01656;ECD01684;ECD01718;ECD02053;ECD02178;ECD02211;ECD02268;ECD02302;ECD02331;ECD02332;ECD02476;ECD02507;ECD02508;ECD02572;ECD02587;ECD02588;ECD02614;ECD02747;ECD02841;ECD03005;ECD03006;ECD03110;ECD03261;ECD03303;ECD03518;ECD03729;ECD03769;ECD04672;ECD05015;ECD05223;ECD05755;ECD05898;ECD05961;ECD05985;ECD06185;ECD06186;ECD06187;ECD06287;ECD06323;ECD06362;ECD06407;ECD06444;ECD06445;ECD06747;ECD06839;ECD07076;ECD07215;ECD07358;ECD07359;ECD07656;ECD07657;ECD07658;ECD07841;ECD07875;ECD08040;ECD08228;ECD08516;ECD08831;ECD09124;ECD09724;ECD09725;ECD10120;ECD10452;ECD10588;ECD10644;ECD10715;ECD10781;ECD10912;ECD10953;ECD11165;ECD11300;ECD11631;ECD11698;ECD11699;ECD12700;ECD12701;ECD12738;ECD12781;ECD12870;ECD12957;ECD13018;ECD13366;ECD13525;ECD13561;ECD13649;ECD13810;ECD14126;ECD14350;ECD14351;ECD14484;ECD14532;ECD14795;ECD14837;ECD14934;ECD15048;ECD15332;ECD15414;ECD16498;ECD16547;ECD17061;ECD17926;ECD18269;ECD18658;ECD18803;ECD18821;ECD18912;ECD19694;ECD19857;ECD20115;ECD20162;ECD20454;ECD20505;ECD20575;ECD20744;ECD21126;ECD21249;ECD21571;ECD21572;ECD21757;ECD22064;ECD22286;ECD22801;ECD23275;ECD23276;ECD23841;REN47683;REN47684;REN47685;REN47686;REN47687;REN47688;REN47689;REN47690;REN47691;REN47692;REN47693;REN47694;REN47695;REN47696;REN47697;REN47698;REN47699;REN47700;REN47701;REN47702;REN47703;REN47704;REN47705;REN47706;REN47707;REN47708;REN47709;REN47710;REN47711;REN47712;REN47713;REN47714;REN47715;REN47716;REN47717;REN47718;REN47719;REN47720;REN47721;REN47722;REN47723;REN47724;REN47725;REN47726;REN47727;REN47728;REN47729;REN47730;REN47731;REN47732;REN47733;REN47734;REN47735;REN47736;REN47737;REN47738;REN47739;REN47740;REN47741;REN47742;REN47743;REN47744;REN47745;REN47746;REN47747;REN47748;REN47749;REN47750;REN47751;REN47752;REN47753;REN47754;REN47755;REN47756;REN47757;REN47758;REN47759;REN47760;REN47761;REN47762;REN47763;REN47764;REN47765;REN47766;REN47767;REN47768;REN47769;REN47770;REN47771;REN47772;REN47773;REN47774;REN47775;REN47776;REN47777;REN47778;REN47779;REN47780;REN47781;REN47782;REN47783;REN47784;REN47785;REN47786;REN47787;REN47788;REN47789;REN47790;REN47791;REN47792;REN47793;REN47794;REN47795;REN47796;REN47797;REN47798;REN47799;REN47800;REN47801;REN47802;REN47803;REN47804;REN47805;REN47806;REN47807;REN47808;REN47809;REN47810;REN47811;REN47812;REN47813;REN47814;REN47815;REN47816;REN47817;REN47818;REN47819;REN47820;REN47821;REN47822;REN47823;REN47824;REN47825;REN47826;REN47827;REN47828;REN47829;REN47830;REN47831;REN47832;REN47833;REN47834;REN47835;REN47836;REN47837;REN47838;REN47839;REN47840;REN47841;REN47842;REN47843;REN47844;REN47845;REN47846;REN47847;REN47848;REN47849;REN47850;REN47851;REN47852;REN47853;REN47854;REN47855;REN47856;REN47857;REN47858;REN47859;REN47860;REN47861;REN47862;REN47863;REN47864;REN47865;REN47866;REN47867;REN47868;REN47869;REN47870;REN47871;REN47872;REN47873;REN47874;REN47875;REN47876;REN47877;REN47878;REN47879;REN47880;REN47881;REN47882;REN47883;REN47884;REN47885;REN47886;REN47887;REN47888;REN47889;REN47890;REN47891;REN47892;REN47893;REN47894;REN47895;REN47896;REN47897;REN47898;REN47899;REN47900;REN47901;REN47902;REN47903;REN47904;REN47905;REN47906;REN47907;REN47908;REN47909;REN47910;REN47911;REN47912;REN47913;REN47914;REN47915;REN47916;REN47917;REN47918;REN47919;REN47920;REN47921;REN47922;REN47923;REN47924;REN47925;REN47926;REN47927;REN47928;REN47929;REN47930;REN47931;REN47932;REN47933;REN47934;REN47935;REN47936;REN47937;REN47938;REN47939;REN47940;REN47941;REN47942;REN47943;REN47944;REN47945;REN47946;REN47947;REN47948;REN47949;REN47950;REN47951;REN47952;REN47953;REN47954;REN47955;REN47956;REN47957;REN47958;REN47959;REN47960;REN47961;REN47962;REN47963;REN47964;REN47965;REN47966;REN47967;REN47968;REN47969;REN47970;REN47971;REN47972;REN47973;REN47974;REN47975;REN47976;REN47977;REN47978;REN47979;REN47980;REN47981;REN47982;REN47983;REN47984;REN47985;REN47986;REN47987;REN47988;REN47989;REN47990;REN47991;REN47992;REN47993;REN47994;REN47995;REN47996;REN47997;REN47998;REN47999;REN48000;REN48001;REN48002;REN48003;REN48004;REN48005;REN48006;REN48007;REN48008;REN48009;REN48010;REN48011;REN48012;REN48013;REN48014;REN48015;REN48016;REN48017;REN48018;REN48019;REN48020;REN48021;REN48022;REN48023;REN48024;REN48025;REN48026;REN48027;REN48028;REN48029;REN48030;REN48031;REN48032;REN48033;REN48034;REN48035;REN48036;REN48037;REN48038;REN48039;REN48040;REN48041;REN48042;REN48043;REN48044;REN48045;REN48046;REN48047;REN48048;REN48049;REN48050;REN48051;REN48052;REN48053;REN48054;REN48055;REN48056;REN48057;REN48058;REN48059;REN48060;REN48061;REN48062;REN48063;REN48064;REN48065;REN48066;REN48067;REN48068;REN48069;REN48070;REN48071;REN48072;REN48073;REN48074;REN48075;REN48076;REN48077;REN48078;REN48079;REN48080;REN48081;REN48082;REN48083;REN48084;REN48085;REN48086;REN48087;REN48088;REN48089;REN48090;REN48091;REN48092;REN48093;REN48094;REN48095;REN48096;REN48097;REN48098;REN48099;REN48100;REN48101;REN48102;REN48103;REN48104;REN48105;REN48106;REN48107;REN48108;REN48109;REN48110;REN48111;REN48112;REN48113;REN48114;REN48115;REN48116;REN48117;REN48118;REN48119;REN48120;REN48121;REN48122;REN48123;REN48124;REN48125;REN48126;REN48127;REN48128;REN48129;REN48130;REN48131;REN48132;REN48133;REN48134;REN48135;REN48136;REN48137;REN48138;REN48139;REN48140;REN48141;REN48142;RH102937;RH66257;SHGC-105284;SHGC-147186;SHGC-147980;SHGC-57955;WI-19381;stSG632077;stSG632078;stSG632079;stSG632080;stSG632083;stSG632084;stSG632085;stSG632086;stSG632087;stSG632088;stSG632089;stSG632090;stSG632091;stSG632092;stSG632093;stSG632094;stSG632095;stSG632096;stSG632097;stSG632098;stSG632099;stSG632100;stSG632101;stSG632102;stSG632103;stSG632104;stSG632105;stSG632106;stSG632107;stSG632108;stSG632109;stSG632110;stSG632111;stSG632112;stSG632114;stSG632115;stSG632116;stSG632117;stSG632118;stSG632119;stSG632120;stSG632121;stSG632122;stSG632123;stSG632124;stSG632125;stSG632126;stSG632127;stSG632128;stSG632129;stSG632130;stSG632131;stSG632132;stSG632133;stSG632134;stSG632135;stSG632136;stSG632137;stSG632138;stSG632139;stSG632140;stSG632141;stSG632142;stSG632143;stSG632145;stSG632146;stSG632147;stSG632148;stSG632149;stSG632150;stSG632151;stSG632152;stSG632153;stSG632154;stSG632156;stSG632158;stSG632161;stSG632163 ATL1-alpha;ATL1-beta;ATL1-delta;ATL1-gamma;CTIP-2;CTIP2;RIT1;ZNF856B;hRIT1-alpha ATL1-alpha zinc finger protein;ATL1-beta zinc finger protein;ATL1-delta zinc finger protein;ATL1-gamma zinc finger protein;B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion protein;B-cell lymphoma/leukaemia 11B;B-cell lymphoma/leukemia 11B;BCL-11B;BCL11B/TRDC fusion;COUP-TF-interacting protein 2;OTTHUMP00000067186;OTTHUMP00000067187;hRit1;radiation-induced tumor suppressor gene 1 protein;zinc finger protein hRit1 alpha APPROVED protein-coding ENSG00000127152 13222 05950 606558 REVIEWED 1347575 BCL10 B-cell CLL/lymphoma 10 This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. [provided by RefSeq, Jul 2008] 1 1 p22 85504047 85516171 - 85731459 85742587 - 1580863;6480464;6484113;6907045;7240710 11836626;11472070;16280327;15125833;11053425;15207693;15082780;16395405;16831874;10400625;16647297;15878976;11163238;12761501;14695475;17095757;12154360;11021819;11278692;15122200;17468049;16127295;19336552;19309400;19279678;19112107;18949449;18806265;18625728;18349075;18346354;18287044;18252714;18231929;17893875;17540779;17502353;17371994;17213322;17199743;17179215;17101977;17052756;16785131;16775419;16341151;16229939;16186825;16123224;15637807;15489334;15213237;14674990;14638696;14523480;12477932;12017308;11960389;21406399;11830492;11466612;11387339;11356195;11262391;11259443;11113112;11090634;10753917;10380921;10364242;10319863;10187815;10187771;10187770;9989495;8813110;17353931;18307945;19035248;20466000;1040062;16809782;17047224;19444310;19573080;19690445;19709433;19773279;19897484;20237496;16712791;20439115;20695076;21048031;18223652;19593445;16356855;17189706;22818167;17948050;21513986;19815501;21700900;21896478;23153494;22579587;23661444;23690623;20551178;21674474;20164171;22474286;16920630;19322201;17363905;21988832;22547678;22708078;15184390;22564715;17287217;22812606 8915 O95999 ABBA01045640;AF057700;AF082283;AF097732;AF100338;AF105066;AF127386;AF134395;AJ006288;AK291346;AL590113;AMYH01000754;BC053617;BI831624;BX647306;CA420027;CA443148;CB126730;CH471097;EF189176;NG_012216;NM_003921 AAC99767;AAD15800;AAD16428;AAD24918;AAD32597;AAD39147;AAF06894;AAH53617;ABN09569;BAF84035;CAA06955;EAW73208;NP_003912;O95999 Hs.193516 1677436;1795418 BCL10_716;RH98853 CARMEN;CIPER;CLAP;c-E10;mE10 B-cell lymphoma/leukemia 10;CARD containing molecule enhancing NF-kB;CARD-containing apoptotic signaling protein;CARD-containing molecule enhancing NF-kappa-B;CARD-containing proapoptotic protein;CED-3/ICH-1 prodomain homologous E10-like regulator;OTTHUMP00000011647;OTTHUMP00000036080;bcl-10;cCARMEN;caspase-recruiting domain-containing protein;cellular homolog of vCARMEN;cellular-E10;hCLAP;mammalian CARD-containing adapter molecule E10 APPROVED protein-coding ENSG00000142867 989 04625 114500;137245;156240;603517;613024 REVIEWED 69214 BCKDK branched chain ketoacid dehydrogenase kinase The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 16 16 16 p11.2 29173915 29178365 - 31027223 31031422 + 31119662 31124112 + 1580863;6480464 11839747;17353931;15489334;12477932;12023963;8889548;1889817;1377677;19913121;20628086;2403034;20877624;20811636;17000644;21832049;15604093;21890473 10295 A8MY43;H3BNP3;H3BQP2;H3BS02;H3BTL2;H3BUV3;O14874;Q96G95 ABBA01042078;AC135050;AF026548;AK130145;AK294691;AMYH01007504;BC007363;BC009872;BM679327;BX427330;CH471192;CR542093;NG_033011;NM_001122957;NM_001271926;NM_005881 AAB82714;AAH07363;AAH09872;ABM84613;ABM87863;BAG57850;CAG46890;EAW52160;EAW52161;EAW52162;EAW52163;EAW52164;NP_001116429;NP_001258855;NP_005872;O14874 Hs.513520 1679319;1685063;2109081 BCKDK_9086;RH48904;SHGC-61092 BCKDKD;BDK BCKD-kinase;BCKDHKIN;OTTHUMP00000044996;OTTHUMP00000044997;OTTHUMP00000044998;OTTHUMP00000044999;[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial;branched chain alpha-ketoacid dehydrogenase kinase;branched-chain alpha-ketoacid dehydrogenase kinase protein-coding ENSG00000103507 16902 12523 614901;614923 REVIEWED 1353095 BCL2L10 BCL2-like 10 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. [provided by RefSeq, Jul 2008] 15 15 q21 50189114 50192264 - 52401822 52404972 - 1580863;2313975;6480464 17322918 18835031;9829980;11278245;9878060;19336552;18483366;18178565;17532299;12720100;12477932;11689480;11593390;11557035;10486928;9488720;19913121;20628086;19255499;19551325;19573080;19773279;20919753;20428828;20855536;21166696;21171085;21077739;21760590;21890473;22233804;22577154;23235460;22498477 10017 H0YMD5;Q9HD36 ABBA01039067;AC023906;AF285092;AF326964;AJ458330;AMYH01006650;BC093826;BC093828;BC104442;BC104443;CH471082;NM_020396 AAG00503;AAH93826;AAH93828;AAI04443;AAI04444;AAK48715;CAD30221;EAW77435;NP_065129;Q9HD36 Hs.283672 2177956;2217066 BCL2L10_3137;STS-R53538 BCL-B;Boo;Diva;MGC129810;MGC129811 OTTHUMP00000162719;anti-apoptotic protein NrH;apoptosis regulator Bcl-B;bcl-2-like protein 10;bcl2-L-10 APPROVED protein-coding 993 06071 606910 REVIEWED 1320527 BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 p16.1 60531806 60634137 - 60678302 60780633 - 1580863;6480464 22675500;10757802;10744719;9847074;19369625;19153051;19056937;19020323;18948576;18714373;18691915;18681895;18667698;18245381;17767159;17672918;16871282;16704730;15639232;15489334;14702039;12477932;11986957;11830502;11719382;11347906;11161790;21267535;19913121;20628086;21157349;21493818;19616629;19657335;19670153;19696200;19720844;19833888;19862010;20018918;20075150;20183929;20379614;20395365;20472475;20623620;20575024;20578197;20889853;21068433;16091750;20542454;20581827;22258351;21326311;21832049;22271886;16147992;21890473;21864053;22113416;22012869;22318606;23209159;23752268;21988832;22094256;22739175;23094636;23438597;22505724;22936743;23576758;23222517;23406172;23223429 53335 B4DT16;D6W5D9;D9YZV9;F5H2Y4;Q9NWA7 AB058712;ABBA01075329;ABBA01075330;ABBA01075331;ABBA01075332;AC007381;AC009970;AF080216;AJ404611;AJ404612;AJ404613;AK001035;AK055251;AK092316;AK297507;AK300012;AMYH01010379;AY228763;AY692278;BC021098;BG393787;CH471053;GU324936;GU324937;JN852960;NG_011968;NM_018014;NM_022893;NM_138559 AAG49025;AAH21098;AAO88272;AAU04557;AAX93205;AAY14784;ABZ92151;ABZ92337;ADL14507;ADL14508;AEV45616;BAB47438;BAG51490;BAG52530;BAG59920;BAG61828;CAC17723;CAC17724;CAC17725;EAX00035;EAX00036;EAX00037;EAX00038;EAX00039;EAX00040;EAX00041;NP_060484;NP_075044;NP_612569;Q9H165 Hs.370549 1334890;1643959;1658750;1664458;1682595;1683978;1719407;1788800;1791157;2187267;2218304 BCL11A_4045;D2S1422;D2S2198;G34992;RH123484;RH138170;RH45041;RH70463;RH80326;RH94052;UniSTS:258468 BCL11A-L;BCL11A-S;BCL11A-XL;BCL11a-M;CTIP1;EVI9;FLJ10173;FLJ34997;HBFQTL5;KIAA1809;ZNF856 B-cell CLL/lymphoma 11A (zinc finger protein) isoform 2;B-cell lymphoma/leukemia 11A;BCL-11A;BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) isoform 1;C2H2-type zinc finger protein;COUP-TF-interacting protein 1;EVI-9;OTTHUMP00000159788;OTTHUMP00000159789;OTTHUMP00000201250;OTTHUMP00000202083;OTTHUMP00000202084;OTTHUMP00000202085;ecotropic viral integration site 9 homolog;ecotropic viral integration site 9 protein homolog;zinc finger protein 856 APPROVED protein-coding ENSG00000119866 13221 05949 606557 REVIEWED 733985 BCL2A1 BCL2-related protein A1 This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 q24.3 78040290 78050698 - 80253232 80263643 - 734640;1580863;2313975;6480464 11733571;17322918 22292048;16697956;18835031;8605321;19336552;18812174;18512730;18414982;18206119;18093280;17942758;17726463;17724464;17666431;17121585;16873269;16572199;16551634;16164629;15696550;15694340;15617521;15592513;15501771;15499630;15489334;14981542;14966372;14747545;12771180;12692420;12665576;12477932;11929871;11696595;11483855;11329013;10849436;10753914;10545479;10454539;10430908;10381646;10049353;9670936;9356461;9321477;9050999;8952545;8910286;8589678;8345191;7478596;10198631;21843371;19573080;19759007;19773279;20185581;20353833;9731710;19913121;20628086;20800603;20855536;21167304;22720045;22865454;21832049;21491422;17907802;22745672;22318606;22510878;22615379;23447565;22231730;22553204;23118966;23152563 597 Q16548 ABBA01060616;AC015871;AL110097;AMYH01006846;AY234180;BC016281;BG198875;BG204033;BG216703;BT007103;CD640106;CH471136;CR541937;CR541962;HI574046;NG_029487;NM_001114735;NM_004049;U27467;U29680;Y09397 AAC50288;AAC50438;AAH16281;AAO89009;AAP35767;ABM82035;ABM85216;CAA70566;CAG46735;CAG46760;CBX47512;EAW99129;NP_001108207;NP_004040;Q16548 Hs.227817 1662757;1739593;1768623;1769363;1795076;1853733 D10S1618E;PMC97140P1;RH68628;SHGC-35552;SHGC-64943;STS-U27467 ACC-1;ACC-2;BCL2L5;BFL1;GRS;HBPA1 OTTHUMP00000185566;OTTHUMP00000185567;bcl-2-like protein 5;bcl-2-related protein A1;bcl2-L-5;hematopoietic BCL2-related protein A1;hemopoietic-specific early response protein;protein BFL-1 APPROVED protein-coding ENSG00000140379 991 03034 601056 REVIEWED 733100 BCL2 B-cell CLL/lymphoma 2 This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Two transcript variants, produced by alternate splicing, differ in their C-terminal ends. [provided by RefSeq, Jul 2008] 18 18 q21.3 58941559 59137593 - 60790579 60986613 - 734639;1599473;1599477;1599484;1599491;1300048;1580863;1579984;1579980;1579966;2293020;2293059;2293016;2293015;2314140;2293022;2293026;2290557;2293017;2293013;2293014;2289659;2293072;2293078;2313975;2313998;2311240;2298889;2298896;2292908;2292909;2293019;2293073;2292910;2291908;2293018;2293027;2298890;2298897;1643477;2293021;2293065;1643479;6480464;6484113;6907045;7240710 3287162;16671111;16309543;16289365;15649569;12234300;15632274;16826579;18093155;17908970;18084610;18959742;18441466;18221257;18083315;17850375;18217456;18094410;12628841;17693937;17404573;17322918;18931364;18991018;18561741;18283311;18430249;18427947;17482919;17639989;18342927;18317887;17693084;18202171;18386458;18006758;18047955;12810203;18076646;16962107 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21748337;21850486;21914345;21971866;22038216;22065578;22072615;22139839;22143931;22199279;22219597;22372356;21117871;21463514;21618512;21624464;21682651;21819468;21855110;21901143;21907236;21933893;21989054;22002575;22037714;22138435;22160209;22174832;22194596;22207524;22275372;22275374;22277792;22320961;22464442;22582499;14769789;20890735;21104343;21258880;21988644;22194861;22523079;22562364;22727345;22262057;22322190;22418857;22506026;21597459;22054286;22152474;9488477;22968395;23119114;10597216;12488548;23207618;23341456;23564079;22804688;22990545;23243017;22562824;23417836;23494176;15757646;17363905;19521340;20822926;22848417;22038727;23247143;23261425;23272207;23263985;23421973;9668078;21713707;21868312;22936014;22995373;23138847;23170075;23174100;23283967;23316052;23364242;23511489;23030583;22650021;23152059;23369735;23610963;22414090;22504301;22563025;22121083;22120515;22187149;23038985;23355004;23153525;22933114;22484426;23018213 596 C9JHD5;P10415 ABBA01056209;ABBA01056210;ABBA01056211;ABBA01056212;ABBA01056213;ABBA01056214;AC021803;AC022726;AF401211;AI401297;AMYH01009054;AY220759;BC027258;CH471096;EU287875;FB571387;FB571389;JA362596;M13994;M13995;M14745;NG_009361;NM_000633;NM_000657;S72602;X06487 AAA35591;AAA51813;AAA51814;AAD14111;AAH27258;AAL02169;AAO26045;ABM82396;ABM85580;ABX60202;CAA29778;CAR95111;CAR95112;CCA94580;EAW63136;EAW63137;EAW63138;EAW63139;NP_000624;NP_000648;P10415 Hs.150749 1654828;1656815;1659114;1684750;1704630;1724291;1741705;1742177;1742181;1742183;1742883;1742937;1768581;1775139;1791780;1792102;1792908;1795424;1851618;1853096;2146490 BCL2_50;D18S1264;D18S379;G10613;GDB:182296;GDB:193042;GDB:193086;GDB:193087;GDB:214797;GDB:216623;PMC125347P1;PMC137064P1;PMC16825P1;RH119070;RH47111;RH68699;RH78390;RH91234;SHGC-37391;SHGC-77927;STS-AA007401 Bcl-2;PPP1R50 OTTHUMP00000163680;apoptosis regulator Bcl-2;b-cell leukemia/lymphoma 2;protein phosphatase 1, regulatory subunit 50 APPROVED protein-coding ENSG00000171791 990 01045 151430 REVIEWED 735516 BCL2L1 BCL2-like 1 The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported. The longer isoform acts as an apoptotic inhibitor and the shorter form acts as an apoptotic activator. [provided by RefSeq, Jul 2008] 20 20 q11.21 29715922 29774317 - 30252261 30310656 - 1300048;1580863;1579980;1579966;1643478;1643480;1643492;1643477;1643481;1643482;1643483;1643491;1643493;1643525;2292685;1643474;1643476;1643479;1643494;2314140;2313975;2292910;6480464;6484113;6907045 15632274;17675586;16886624;17700647;18047955;16850344;15717629;12025227;17706879;17640403;17224795;17870134;17653717;17311011;16962107;17467744;18959742;17322918;18342927 17492131;15030396;20507983;22403404;16608847;8358789;9843949;9184696;9727492;10195903;10198631;11463392;12667443;19573080;19459857;19336552;19317621;19242522;19219602;19212627;19211554;19199036;19180116;19165861;19049976;19043455;19020723;19008458;18974096;18843207;18820703;18818203;18813778;18806875;18786178;18775810;18768389;18641390;18636124;18609706;18594472;18590823;18580065;18568767;18566606;18543286;18534987;18511705;18494061;18428028;18299329;18285708;18262222;18216295;18196538;18182854;18171672;18079751;18069888;17942397;17927446;17923691;17923112;17893147;17880809;17873279;17699158;17673921;17659302;17657164;17652760;17534896;17525735;17519046;15131699;12011449;22454513;15901672;15837790;15827323;15782132;15770735;15767554;15733859;15725478;15722788;15694358;15694340;15657350;15657349;15653751;15638369;15638362;15625014;15574335;15489334;15477204;15459197;15459189;15385505;15375594;15323553;15292226;15179366;15156398;15124764;15079071;15034060;17439414;17428862;17418785;17404017;17384650;17369848;17311927;17301078;17272823;17237249;17227835;17209561;17110373;16983335;16959370;16928273;16850161;16835272;16815550;16810067;16794010;16790528;16773221;16723699;16684963;16650855;16632475;16603546;16572323;16572289;16492678;16403219;16368107;16253528;16204228;16192647;16151013;16148096;16085058;16085054;16081848;16077903;16052512;16048439;15961228;14764594;14752512;14739602;14735465;14668940;14656879;14656874;14631373;14625274;14573608;14520471;14502257;12969962;12963020;12937123;12855666;12853473;12815463;12810626;12783855;12738789;12721288;12637494;12592339;12579342;12553012;12515824;12510191;12477932;12439925;12387875;12381725;12372300;12244097;12214154;12209955;12204872;12198137;12186923;12161031;12115603;12108390;12079401;12070027;12046686;12000759;11994280;11965035;11964315;11941452;11911810;11883953;11859372;11815602;11801602;11788897;14960327;11742726;11733517;11714801;11696595;11583631;11574549;11494146;11483855;11463391;11437653;11423909;11342619;11283018;11279541;11278245;11206074;11175750;11126360;11060313;11054413;11044452;10949025;10891504;10807576;10802717;10737788;10713718;10679027;10625696;10620799;10467399;10467396;10446169;10365962;10330179;10217402;10075695;10049775;9973195;9765397;9742125;9675101;9660918;9539746;9525867;9488720;9435230;9430630;9393856;9388232;9334338;9326610;9305851;9192670;9153240;9130713;9111042;9020082;8692274;8596636;7834748;7644501;7540278;11739707;11123279;15705582;12137781;11077446;9824152;9389483;14596824;9731710;11832478;10837489;16189514;12901880;15637055;12767928;8929532;14980220;15870695;11780052;11756417;15353804;14963330;9372935;15721256;17911582;15231831;19667065;21256112;21226954;21458670;19713971;11971963;15077116;15292519;15625897;16697956;17046835;17274640;17633465;18088462;18250306;18718060;18835031;19060904;19064571;19220664;19395874;19397698;19439449;19467764;19520842;19530162;19567200;19587033;19634140;19670908;19692168;19723045;19773279;19797069;19820711;19834061;19838163;19878271;19883274;19916559;19917720;19948828;19955567;20045442;20048149;20051518;20090905;20100468;20106970;20178603;20192224;20223826;20308427;20453000;20468060;7650367;9027312;9027313;20213502;20363734;21320495;20580954;20858890;20803149;21080944;19763917;20728382;20347499;20400521;20063052;20203691;20661931;20818434;21033220;15006356;18309324;19475409;20140092;20331635;20581863;20628624;20855536;23091012;20673843;21187157;20554038;21148306;21173168;22197371;22211240;22884477;22240664;22960132;18628207;21292770;21339291;21367852;22732506;21203533;21527247;21424121;19236754;21399876;21533126;21726118;21852238;21952639;21656147;21589877;21396851;23442864;22729867;21659544;21674052;21277008;21856303;17289999;21971866;21639858;21669490;21854985;21840391;21900206;22072718;21863213;21980434;22141411;21887277;22267549;22354970;22393362;22433870;23392805;22213163;21674599;22084435;17803695;21567405;22098591;22127243;22138435;22158966;22515821;22589539;22609401;22160868;22235227;22440396;22464442;22627140;21139048;21890473;21906983;22009326;22099018;22119486;22670675;21988832;22705850;23000965;23243017;22440942;10716992;22617334;23171055;16282323;22892098;23079612;23369735;23562578;12594175;16260615;17457084;18051367;18220834;22522453;22552851;22685558;22898820;22686245;22933114;23028682 598 Q07817;Q5QP56;Q5QP59;Q5TE63;Q5TE64;Q9H1R6 ABBA01019297;ABBA01019298;ABBA01019299;ABBA01019300;ABBA01019301;AK290968;AL117381;AL160175;AMYH01011830;AY263335;AY263336;AY263337;BC019307;BT007208;BX647525;CH471077;CR936637;FB721215;FB725892;HI574024;HI574026;NG_029002;NM_001191;NM_138578;U72398;Z23115;Z23116 AAB17354;AAH19307;AAP22027;AAP22028;AAP22029;AAP35872;ABM84387;ABM87310;BAF83657;CAA80661;CAA80662;CAI56777;CAT03369;CAT03400;CBX47501;CBX47502;EAW76424;EAW76425;EAW76426;EAW76427;EAW76428;EAW76429;NP_001182;NP_612815;Q07817 Hs.516966 1687343;1777427;1793280;1793718;1793856;1794898;1794900;1795054;1795056;1795058;1795420;5016400;5017825;5019401 BCL2L1;BCL2L1_1568;D17S2108;PMC156147P6;PMC20354P5;PMC262691P2;PMC300830P1;PMC84055P1;PMC84055P2;PMC92563P1;PMC92563P2;PMC92563P3;RH25072;Z94537 BCL-XL/S;BCL2L;BCLX;BCLXL;BCLXS;Bcl-X;DKFZp781P2092;PPP1R52;bcl-xL;bcl-xS OTTHUMP00000030550;OTTHUMP00000030551;OTTHUMP00000030552;OTTHUMP00000030553;OTTHUMP00000030555;OTTHUMP00000030556;OTTHUMP00000030557;apoptosis regulator Bcl-X;bcl-2-like protein 1;bcl2-L-1;protein phosphatase 1, regulatory subunit 52 APPROVED protein-coding ENSG00000171552 992 02497 600039 REVIEWED 734299 BCL2L11 BCL2-like 11 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013] 2 2 q13 111594962 111642493 + 111878491 111926022 + 704412;734641;1580863;704413;2314029;6480464 9731710;10576740;12388545;19641503 21130142;19893569;20010785;22245094;19148187;22802411;22071694;22081075;22349704;22645134;10198631;15694340;16282323;16697956;17692808;18420585;18677096;14764673;10381623;12591950;19587239;19573080;19403302;19336552;19332026;19330811;19308286;19305426;19300516;19285955;19150432;19141860;19101511;19100522;19064725;19052714;18981303;18949058;18925930;18812174;18806830;18758461;18715501;18715233;18668139;18651223;18549468;18508762;18413764;18398508;18391004;18354037;18348176;18345036;18251703;18246127;18195012;18182577;18165867;18089817;18064628;18063582;18006817;17927446;17717606;17716672;17698840;17686764;17653091;17637819;17538248;17531220;17525735;17499214;17486061;17289999;17276340;17251431;17218274;17203211;17188240;17158029;17151701;17105963;17074758;17067554;17062728;17051334;16951744;16888645;16810067;16773715;16478725;16476732;16373335;16260615;16183168;16148027;16091744;16051596;16022280;15899862;15843898;15824087;15767553;15731089;15731037;15728578;15711598;15688014;15653751;15509554;15489334;15486195;15459900;15378010;15147734;15146197;15030401;15014070;14996839;14970329;14732682;14681225;14676826;14596824;14555991;14527951;12844146;12818176;12486001;12477932;12198137;12118373;12095614;12019181;11997495;11859372;11734221;11583631;11435715;11301022;11210187;11050388;10837489;9463381;9430630;8929531;8918887;15193260;14561217;15721256;12376548;12787561;14769789;15661735;16213503;19407828;19494111;19541822;19574221;19641506;19737817;19773279;19773546;19805519;19850739;19881544;19914305;20066663;20074640;20082325;20086250;20160166;20206402;20231287;20332261;20348947;20861305;20431602;20841506;20878914;21151127;20404322;21041309;20700448;20819778;20855536;20959405;17207965;20877573;20885957;21148799;21148306;21333317;21247487;21533175;15096481;22905229;23047821;22788963;21339291;21367852;20705940;21481848;21555518;21613222;20237869;21655183;21625639;22160382;21832049;22628193;23012423;21415216;21659544;21937453;21729544;19622586;21673341;21958719;21671007;21808067;21732363;22076535;22318606;21899728;21924351;21984578;21375523;22093624;22131152;22426421;21378313;20697841;21478148;22270368;19622774;22388891;22516966;22572381;22609401;22622039;22742832;21507240;23152504;21988832;22430213;23243017;22391963;23295054;23301543;23382048;23394612;23441183;23500081;23532334;23633923;23648111;23681223;23138847;23152053;23235460;23402819;22895567;22819074;15989957;19050264;20821734;22145099;22762551;11546872 10018 C9J417;E9PAM9;H7BZE5;Q8WYL9 AA854054;AA890664;AB071195;AB071196;AB071197;AB071198;AB071199;AB071200;ABBA01001561;AC096670;AF032457;AF032458;AF086141;AF455755;AI268146;AK027160;AK290377;AK291269;AMYH01010925;AMYH01010926;AMYH01010927;AW629314;AY305714;AY305715;AY305716;AY352518;AY423441;AY423442;AY423443;AY428962;BC033694;CH471237;CN411912;DQ849200;DQ849201;DQ849202;HI179172;NG_029006;NM_001204106;NM_001204107;NM_001204108;NM_001204109;NM_001204110;NM_001204111;NM_001204112;NM_001204113;NM_006538;NM_138621;NM_138622;NM_138623;NM_138624;NM_138625;NM_138626;NM_138627;NM_207002;NM_207003 AAC39593;AAC39594;AAH33694;AAL57868;AAQ62569;AAQ82546;AAQ82547;AAQ99148;AAQ99149;AAQ99150;AAR06908;AAT34900;AAY14797;ABI13589;ABI13590;ABI13591;ADQ31938;BAB78589;BAB78590;BAB78591;BAB78592;BAB78593;BAB78594;BAF83066;BAF83958;CBX53894;EAW50364;EAW50365;EAW50366;EAW50367;EAW50369;EAW50370;EAW50371;EAW50372;EAW50373;EAW50374;NP_001191035;NP_001191036;NP_001191037;NP_001191038;NP_001191039;NP_001191040;NP_001191041;NP_001191042;NP_006529;NP_619527;NP_619528;NP_619529;NP_619530;NP_619531;NP_619532;NP_619533;NP_996885;NP_996886;O43521 Hs.469658;Hs.737004 1340014;1657550;1678523;1686146 D2S1892;RH91369;RH99076;WI-11737 BAM;BIM;BIM-alpha6;BIM-beta6;BIM-beta7;BOD;BimEL;BimL;BimS OTTHUMP00000161927;OTTHUMP00000195502;OTTHUMP00000197013;OTTHUMP00000204243;OTTHUMP00000204246;OTTHUMP00000204247;OTTHUMP00000204248;OTTHUMP00000204249;OTTHUMP00000204250;OTTHUMP00000204251;OTTHUMP00000204252;OTTHUMP00000204253;bcl-2 interacting mediator of cell death;bcl-2 interacting protein Bim;bcl-2-like protein 11;bcl-2-related ovarian death agonist;bcl2-L-11;bcl2-interacting mediator of cell death APPROVED protein-coding ENSG00000153094 994 04828 603827 REVIEWED 1606211 BCL2L12 BCL2-like 12 (proline rich) The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a Bcl-2 homology domain 2 (BH2). The function of this gene has not yet been determined. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 19 19 q13.3 54860211 54868985 + 50168399 50177173 + 6480464 22664385;22431925;18844453;18669646;17081983;16344560;15493871;15489334;14759258;12783122;12477932;11401436;11283018;19376117;18930135;19913121;20628086;18928586;20855536;19723066;19763795;19903463;21152697;21737576;21906983;21987572;22262180;23292833;21963094;21988832;22728012 83596 M0QZM6;M0R1K0;M0R1Z8;Q9HB09 ABBA01032913;AC011495;AF289220;AMYH01009916;BC007724;BC104004;BC104005;BC104006;CH471177;FJ868798;FJ868799;FJ868800;FJ868801;FJ868802;FJ868803;FJ911906;FJ911907;FJ911908;HM347053;NM_001040668;NM_138639 AAG29495;AAG29496;AAH07724;AAI04005;AAI04006;AAI04007;ACZ28444;ACZ28445;ACZ28448;ACZ28450;ACZ28451;ACZ28452;ADM35972;EAW52514;EAW52515;EAW52516;EAW52517;NP_001035758;NP_619580;Q9HB09 Hs.289052 2115343;2169814;2176202 RH18543;SGC33962;STS-H72005 MGC120313;MGC120314;MGC120315 Bcl-2 related proline-rich protein;bcl-2-like protein 12;bcl-2-related proline-rich protein;bcl2-L-12 APPROVED protein-coding 13787 16543 610837 REVIEWED 1344720 BCL5 B-cell CLL/lymphoma 5 2682663;8400234 603 1000 1603456 BCL2L15 BCL2-like 15 1 1 1 p13.2 112648655 112659386 - 114220959 114231692 - 114419436 114430169 - 6480464 16710414;15961081;15489334;12477932;12700646;16690252;17412810 440603 I6LA81;Q5TBC7 ABBA01068458;AI821052;AK026241;AK289439;AL137856;AMYH01000964;AY265861;AY265862;AY265863;AY265864;BC127719;BC127720;BC132904;BC132906;BX116361;CR749373;NM_001010922 AAI27720;AAI27721;AAP93855;AAP93856;AAP93857;AAP93858;BAF82128;CAH18226;NP_001010922;Q5TBC7 Hs.123106 1685399;5014051;5016700;5022200;5022651;5037552;5117897 D11S2921;D8S2278;D8S2279;GDB:631813;L18426;RH79802;RH98904 Bfk;C1orf178;FLJ22588 OTTHUMP00000013724;OTTHUMP00000213302;bcl-2-like protein 15;bcl2-L-15;pro-apoptotic Bcl-2 protein protein-coding 33624 16920 VALIDATED 5507955 BCL2L2-PABPN1 BCL2L2-PABPN1 readthrough This locus represents naturally occurring read-through transcription between the neighboring BCL2L2 (BCL2-like 2) and PABPN1 (poly(A) binding protein, nuclear 1) genes on chromosome 14. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010] 14 q 23775971 23795394 + 12477932;20967262 100529063 G3V2X3 ABBA01061318;ABBA01061319;ABBA01061320;AL049829;AMYH01005603;AMYH01005604;BC011637;NM_001199864 NP_001186793 Hs.707712 1690290;2138799;2191547;5022232 MARC_26170-26171:1030649367:1;RH47139;RH65111;SHGC-57254 BCL2L2-PABPN1 protein;OTTHUMP00000246232;OTTHUMP00000246234 protein-coding 42959 REVIEWED 1603380 BCL2L14 BCL2-like 14 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009] 12 12 p13-p12 12115145 12255214 + 12223878 12252629 + 2315712;6480464 14999772 11054413;18006276;17557568;17280616;16484005;15489334;15284860;12477932;12440815;12136098;11896457;8125298;19913121;20628086;20677014;20855536;19524489;19671159;20379614;21550398;22573796;18029348;23077088 79370 C9J3S1;C9K0Q9;K7EKK7;K7EMX4;Q9BZR8 ABBA01067828;ABBA01067829;AC007537;AF281254;AF281255;AJ329005;AK000127;AK026440;AK223415;AK292995;AMYH01004286;AMYH01004287;AY040274;BC025778;CH471094;HC679613;NG_029375;NM_030766;NM_138722;NM_138723 AAG59793;AAG59794;AAH25778;AAK72109;BAD97135;BAF85684;CBL93958;EAW96247;EAW96248;EAW96249;EAW96250;EAW96251;NP_110393;NP_620048;NP_620049;Q9BZR8 Hs.210343 1661982;1797314;2187605;2217568;5037552 BCLG_1767;D8S2279;LRP6_4011;WI-16673;WI-18051 BCLG OTTHUMP00000215698;OTTHUMP00000215700;apoptosis facilitator Bcl-2-like protein 14;apoptosis regulator BCL-G;bcl2-L-14 APPROVED protein-coding ENSG00000121380 16657 05841 606126 REVIEWED 1352362 BCL2L2 BCL2-like 2 This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010] 14 14 q11.2-q12 22845852 22850808 + 23775971 23780968 + 1580863;2313963;2313975;6480464 18817839;17322918 15694340;16697956;9500547;8761287;19369647;19336552;19141860;19124064;19114998;19097687;18692484;17459056;16475813;16344560;15489334;15147516;12651847;12477932;12115603;11546872;11483855;11423909;11152643;9731710;9430630;9039502;10381646;12952938;12660157;20510331;20515870;20575554;20696142;20736132;20808289;21060336;10737800;15342556;15790807;17306351;20062536;20213841;20501806;19451595;19573080;19654003;19913121;20628086;20819778;20855536;20959405;22850539;21822301;22318606;17289999;21947305;22138435;22570867;22000515;19322201;23337879;23369735;22780970 599 G3V3B7;G3V3G8;G3V4B7;G3V5A9;H0YJC7;Q92843 AA524030;AA741032;ABBA01061318;AK289519;AL049829;AMYH01005603;BC021198;BC104789;BC113522;BP216712;BQ001111;BQ359913;BT019549;CH471078;D87461;DA196433;DA288957;DA451936;NM_001199839;NM_004050;U59747 AAB09055;AAH21198;AAI04790;AAI13523;AAV38356;ADR82846;BAA19666;BAF82208;EAW66169;NP_001186768;NP_004041;Q92843 Hs.410026;Hs.735863 1687968;1795422;2190525;2191727 BCL2L2_718;EST16D6;MARC_5753-5754:996690790:1;RH75103 BCL-W;BCL2-L-2;BCLW;KIAA0271;PPP1R51 BCL2-like 2 protein;OTTHUMP00000027940;OTTHUMP00000246228;OTTHUMP00000246229;apoptosis regulator BCL-W;bcl-2-like protein 2;bcl2-L-2;protein phosphatase 1, regulatory subunit 51 APPROVED protein-coding ENSG00000129473 995 03569 601931 REVIEWED 1315911 BCL2L13 BCL2-like 13 (apoptosis facilitator) This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012] 22 22 22 q11.1 1741236 1831699 + 16501485 16591991 + 18121350 18213621 + 1580863;6480464 10591208;11262395;18519826;17360363;17081983;16189514;15489334;15461802;14702039;12527362;12477932;11381032;16189266;19643727;20068093;20179162;20713527;17974005;18669648;19064571;20109966;20237496;20379614;20855536;20877624;21832049;21139048;21890473;21906983;15146197;16344560;22921587 23786 A8K5Y4;B7Z238;B7Z737;E9PDD6;F2Z2C3;H0Y3R5;Q86T62;Q8IZP5;Q9BXK5 ABBA01001432;ABBA01001433;ABBA01001434;ABBA01001435;ABBA01001436;ABBA01001437;ABBA01001438;AC006285;AF086412;AF146568;AF183411;AF246665;AF325209;AF539453;AK027443;AK056248;AK075044;AK291449;AK294286;AK301394;AK314489;AL133029;AL831982;AMYH01012436;AMYH01012437;AMYH01012438;BC003032;BC007658;BC016037;BE900458;BI560132;BX354578;BX407004;CH471193;CN420914;CR456521;DA154984;DA169152;DA478149;DA799358;DC341613;NM_001270726;NM_001270727;NM_001270728;NM_001270729;NM_001270730;NM_001270731;NM_001270732;NM_001270733;NM_001270734;NM_001270735;NM_015367;NR_073068;NR_073069 AAF03602;AAG09680;AAH07658;AAH16037;AAK15150;AAK27358;AAN10130;ABM84173;ABM87575;BAF84138;BAG37090;BAG51659;BAH11724;BAH13473;CAB61361;CAD89976;CAG30407;CAK54552;CAK54851;EAW57766;EAW57767;EAW57768;NP_001257655;NP_001257656;NP_001257657;NP_001257658;NP_001257659;NP_001257660;NP_001257661;NP_001257662;NP_001257663;NP_001257664;NP_056182;Q9BXK5 Hs.631672 1647977;1700730;1788968;2144620;2153622;5019835;5124656 A010A02;D22S1246;G33035;G65560;RH103990;RH11337;RH48192 BCL-RAMBO;Bcl2-L-13;MIL1 OTTHUMP00000196198;OTTHUMP00000196199;OTTHUMP00000196200;OTTHUMP00000233719;Protein Mil1;bcl-2-like protein 13 APPROVED protein-coding ENSG00000099968 17164 09822 REVIEWED 1314971 BCL3 B-cell CLL/lymphoma 3 This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008] 19 19 q13.1-q13.2 49943820 49955141 + 45251978 45263301 + 1580863;6480464;6484113 20547759;16940298;16732314;16311697;16123212;16099425;15829968;15634875;15489334;15469820;15105810;12808109;12730195;12477932;12456498;11707390;11485202;10607713;10497212;10362352;9812988;9576921;9218802;8497270;8453667;16306601;8196632;11387332;16108830;16384933;16280327;9407099;19494302;19383626;19229118;19191868;18940474;18796561;18025803;17963943;17881446;17644518;17495977;17272867;8428580;8330739;7896265;7691160;2180580;2124350;1923524;1501714;1406939;17923499;14678988;10469655;22782967;20658525;19282837;19451226;19617629;19806201;19913121;20226764;20471052;19893491;20414006;20558726;20731879;21048031;20800578;20572854;20601676;20634891;20672350;20974051;20737317;16331275;21912613;17962807;23149915;21988832;22580608;23115114;23565137 602 H7C0A2;P20749 ABBA01040882;AC092066;AK296180;AK309453;AMYH01009842;BC064993;BU501187;CH471126;M31731;M31732;NM_005178;Z15098 AAA51815;AAA51816;AAH64993;BAH12275;EAW57291;NP_005169;P20749 Hs.31210 1689789;1741941;1792824;1795426;1851782;5122599 BCL3_1822;GDB:186920;PMC164841P1;RH75793;RH78499;STS-M31732 BCL4;D19S37 B-cell leukemia/lymphoma 3;B-cell lymphoma 3 protein;B-cell lymphoma 3-encoded protein;BCL-3;OTTHUMP00000200151;OTTHUMP00000200152;chronic lymphatic leukemia protein;proto-oncogene BCL3 APPROVED protein-coding ENSG00000069399 998 00179 109560 REVIEWED 1319851 BCL7A B-cell CLL/lymphoma 7A This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q24.13 122097731 122138585 + 120944244 120984333 + 122459861 122499950 + 6480464 15897551;19336552;18663754;15489334;14743216;12477932;9931421;8605326;19573080;19773279;21145461;20562864;20460684;20360068;21555454;21890473;22856870;23043359 605 Q4VC05 ABBA01020197;ABBA01020198;AC069503;AC145420;AC156455;AK296159;AK316486;AMYH01004824;BC094723;BC113627;BM801030;CH471054;NM_001024808;NM_020993;X89984 AAH94723;AAI13628;ADR82878;BAG58898;BAH14857;CAA62011;EAW98301;EAW98302;NP_001019979;NP_066273;Q4VC05 Hs.530970 1699300;1720553;1746355;1758221;1782646;1795428;2125142;5125068 BCL7A_1791;G59230;G64631;RH103236;RH67957;RH80875;SHGC-147729;SHGC-149267 BCL7 B-cell CLL/lymphoma 7 protein family member A;B-cell CLL/lymphoma-7;OTTHUMP00000239804;OTTHUMP00000239805 APPROVED protein-coding 1004 03243 601406 REVIEWED 1349060 BCL6B B-cell CLL/lymphoma 6, member B 17 17 17 p13.1 6951874 6958520 + 6867093 6873685 + 6926369 6932961 + 1580863;6480464 15489334;14702039;12477932;11855826;10965127;9632807;1946370;1505991;22279058;22318606;12659862;21917650 255877 A8KA13;H0YGW0;I3L304;I3L396;Q8N143 AB076580;AB076581;ABBA01054846;AC040977;AK024695;AK122893;AK292878;AK293102;AMYH01008065;BC059404;CH471108;M88371;NM_181844 AAA61329;AAH59404;ABZ92123;BAC00962;BAC00963;BAF85567;BAF85791;BAG53785;EAW90273;EAW90274;NP_862827;Q8N143 Hs.22575 1778268;1848015 AF021126;WI-13656 BAZF;ZBTB28;ZNF62 B-cell CLL/lymphoma 6 member B protein;B-cell CLL/lymphoma 6, member B (zinc finger protein);bcl6-associated zinc finger protein;zinc finger protein 62 APPROVED protein-coding ENSG00000161940 1002 16414 608992 VALIDATED 1319642 BCL6 B-cell CLL/lymphoma 6 The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of START-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 3 3 q27 188921859 188946169 - 187439165 187463513 - 1600111;1580863;6480464;6484113 11821949 10898795;16819511;15577913;9135990;10490843;7795255;19367498;19336552;19141860;19052359;18801072;18776761;18676680;18675787;18660489;18636124;18604721;18500267;18494554;18487509;18354204;18346918;18256039;18212045;18203018;18166802;17989722;17989715;17889713;17828269;17785208;17689208;17635238;17625604;17594153;17576390;17558410;17542409;17476282;17468402;17403935;17392284;17360630;17296585;17210865;17151114;16943429;16896311;16815642;16773719;16772602;16766263;16733207;16728698;16704730;16489068;16455075;16344560;16264183;16249378;16194898;16147992;16125304;16094416;15609396;15509806;15377470;15339680;15277222;15202519;15191563;15146197;15024721;14690607;14655758;14654791;14551142;12970571;12881702;12879322;12860928;12835729;12775568;12590135;12562237;12555064;12518453;12515714;12507907;12477975;12477932;12469325;12413700;12402037;12393409;12389616;12217802;12165517;12097386;12004059;11994280;11929873;11920179;11914273;11911418;11854457;11175338;10601358;9927193;9765306;9649500;9632807;9624052;9380707;9311010;9171827;9110977;9047392;8758205;8692924;8618933;8506375;8274740;8274736;8235596;8220427;7795234;7639334;1946370;1505991;10611298;9627120;15531890;15454082;22395507;20935202;20959405;21048031;18029348;19170196;19268365;19307668;19448593;19465899;19487462;19525926;19549844;19564417;19573080;19625176;19631565;19656156;19692168;19701248;19773279;19787248;19797315;19797429;19816083;19855081;19925052;19965633;19966776;20032416;20124477;20160358;20175752;20237496;20299965;20379614;20385356;20453000;22994707;20547840;20348878;20557674;20630860;11865059;12659862;19575892;20733034;20966935;21509594;9753732;23166356;20830719;21390126;21424034;19379553;19797725;19236753;21623692;21055028;21092586;20807888;21785430;21783402;21725042;15004558;16142238;21911423;22113614;22668559;22318606;22493480;21988858;21788950;21906983;22893614;23335369;22124122;23476051;23534349;20981461;22797727;21855110;22158496;22204827;22427637;22451912;19337254;22649468;22968395;23269799;18280243;19121354;15849194;23348205;22833560;23042398;23284291 604 B5B0A5;C9JCS5;C9JL16;P41182 ABBA01058367;AC072022;AF240680;AI624861;AK304325;AK308162;AMYH01013747;AW337942;AW470156;BC142705;BC146796;BC150184;BX649185;CH471052;CN401512;DB025893;DB079847;EU139066;EU883531;M88362;NG_007149;NM_001130845;NM_001134738;NM_001706;S67779;U00115;Z21943;Z79581 AAA61320;AAC50054;AAI42706;AAI50185;ABX45135;ACG60659;BAG65174;CAA79937;CAE46203;EAW78140;EAW78141;NP_001124317;NP_001128210;NP_001697;P41182 Hs.478588 1661104;1674103;1792134;1793922;1850777;1852456;2131338;2167935;2172777;2176950;5095000 BCL6;PMC137537P1;PMC309637P2;RH47862;RH69801;RH70520;SHGC-34056;SHGC-64334;SHGC-77610;SHGC-77640;STS-W46183 BCL5;BCL6A;LAZ3;ZBTB27;ZNF51 B-cell lymphoma 5 protein;B-cell lymphoma 6 protein;B-cell lymphoma 6 protein transcript;BCL-5;BCL-6;OTTHUMP00000209895;OTTHUMP00000209897;OTTHUMP00000209900;cys-his2 zinc finger transcription factor;lymphoma-associated zinc finger gene on chromosome 3;protein LAZ-3;zinc finger and BTB domain-containing protein 27;zinc finger protein 51;zinc finger transcription factor BCL6S APPROVED protein-coding ENSG00000113916 1001 00180 109565 REVIEWED 1319242 BCL9L B-cell CLL/lymphoma 9-like 11 11 11 q23.3 115926540 115941305 - 118272059 118286823 - 118766849 118781613 - 6480464 17052462;15371335;12964048;12477932;15574752;19328798;20637214;21703997;22109522;18029348 283149 E9PIW0;E9PNR0;Q86UU0 AB094091;ABBA01039689;AK122650;AK122882;AMYH01004077;AP004609;AY296059;BC033257;CH471065;NM_182557 AAH33257;AAI56198;AAQ62697;BAC76045;BAC85500;BAC85512;EAW67418;NP_872363;Q86UU0 Hs.414740 1703222;5107489;5493885 Bcl9l;D11S795;SGC32303 BCL9-2;DLNB11 B-cell CLL/lymphoma 9-like protein;B-cell lymphoma 9-like protein;BCL9-like protein;OTTHUMP00000232840;OTTHUMP00000232841;nuclear co-factor of beta-catenin signalling;protein BCL9-2 protein-coding 23688 10612 609004 VALIDATED 1318207 BCL7C B-cell CLL/lymphoma 7C This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] 16 16 16 p11 29392347 29398624 + 30806617 30812900 - 30899116 30905399 - 6480464 19336552;17081983;15489334;15345747;15302935;12477932;9931421;8605326;19573080;19773279;17207965;18809673;19759913;21832049;19471022;21555454 9274 I3L1Q2;I3L4D5;Q8WUZ0 ABBA01042067;AC135048;AJ223980;AMYH01007499;BC019071;BC058863;CH471192;NM_004765 AAH19071;AAH58863;ADQ32980;ADZ15675;CAA11754;EAW52193;NP_004756;Q8WUZ0 Hs.658547 2124748 D16S3338 B-cell CLL/lymphoma 7 protein family member C;OTTHUMP00000163247;OTTHUMP00000163248 APPROVED protein-coding 1006 05787 605847 REVIEWED 1315830 BCL9 B-cell CLL/lymphoma 9 BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008] 1 1 q21 145479806 145564641 + 147013182 147098017 + 1580863;6480464 19322201;11955446;17113272;18789482;18498752;18347063;17052462;15302935;14612447;12477932;12047235;10602418;9490669;15294866;19328798;19715304;19738061;20379614;21383261;19913121;20628086;20637214;22914623;22024689;23382809;15146197;16344560 607 O00512;Q1JQ81 ABBA01004401;AC242628;AL359207;AL590667;AMYH01001225;AMYH01001226;AW104430;BC116451;CH471223;CN281037;CN281038;DA593760;HI574316;NM_004326;Y13620 AAI16452;CAA73942;CAI15198;CBX47647;EAW50932;EAW50933;NP_004317;O00512 Hs.415209 1689813;1715867;1756505;1774865;1795432;2189325;5022689 AL009676;BCL9;BCL9_52;MARC_1017-1018:991929864:1;RH119628;RH41927;SHGC-143527 LGS;MGC131591 B-cell CLL/lymphoma 9 protein;B-cell lymphoma 9 protein;OTTHUMP00000015909;bcl-9;protein legless homolog APPROVED protein-coding ENSG00000116128 1008 04000 602597 REVIEWED 1349003 BCL7B B-cell CLL/lymphoma 7B This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010] 7 7 7 q11.23 68428601 68449940 - 72588622 72609960 - 72950683 72972065 - 1302558;6480464 9806765 8605326;18193044;15489334;14702039;12477932;9931421;9860302;16344560;20571754;20972250;20864672;21300955;23018576;20360068;22318606;21044950;21890473;23505323 9275 F2Z3H6;F8WDZ4;F8WE18;Q9BQE9 ABBA01063951;AC005089;AJ223979;AK290091;AL553260;AMYH01017533;AMYH01017534;AW328570;BC000956;BC001967;BC009548;BI837138;BQ109412;CH471200;DA688517;NG_027959;NM_001197244;NM_001707;NR_036682;X89985 AAH00956;AAH01967;AAH09548;ABM84642;ABM92173;BAF82780;CAA11753;CAA62012;EAW69675;EAW69676;EAW69677;EAW69678;NP_001184173;NP_001698;Q9BQE9 Hs.647051 1689484;1735632;1790441;1795430;1853893;2116964 BCL7B_80;D7S2038E;D7S3295;RH69607;RH79567;STS-H69097 B-cell CLL/lymphoma 7 protein family member B;OTTHUMP00000160391;OTTHUMP00000211550 APPROVED protein-coding ENSG00000106635 1005 05786 605846 REVIEWED 1344777 BCPM benign chronic pemphigus (Hailey-Hailey disease) 7240710 7981684 1013 169600 1346552 BCMO1 beta-carotene 15,15'-monooxygenase 1 Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008] 16 16 q23.2 79829797 79882248 + 81272296 81324747 + 634553;1580863;6480464;6903956;6484679;6907045;7240710 10799297;21569862;21718801 19185284;19103647;18282583;17951468;16504037;15489334;14702039;12477932;11401432;10766819;15983114;18464913;19662379;19844255;20221844;20599666;15583024;18295589;23134893;21091228;22113863 53630 E7EM88;H3BPA2;H3BV18;Q9HAY6 ABBA01016967;ABBA01016968;ABBA01016969;ABBA01016970;ABBA01016971;AC009148;AC131888;AF294900;AK001592;AK296011;AMYH01007849;BC022269;BC126210;BC126212;CH471114;NG_012171;NM_017429 AAG15380;AAI26211;AAI26213;ADR83052;BAA91776;BAG58782;EAW95537;EAW95538;NP_059125;Q9HAY6 Hs.212172 2218306 BCMO1_4442 BCDO;BCDO1;BCMO;BCO;BCO1;FLJ10730 OTTHUMP00000174978;beta,beta-carotene 15,15'-monooxygenase;beta-carotene 15, 15'-dioxygenase 1;beta-carotene dioxygenase 1 APPROVED protein-coding ENSG00000135697 13815 12042 115300;605748 REVIEWED 1344218 BCORP1 BCL6 corepressor pseudogene 1 Y Y Y q11.222 6108501 6156219 + 20076705 20124427 - 21617317 21665039 - 14702039;12815422;12477932;9847074 286554 Q8N888 ABBA01073759;ABBA01073760;ABBA01073761;AC010137;AK097140;AK303164;BC063452;BC110520;BC110521;BC122539;NR_002923;NR_033732 BAC04961;BAG64264;Q8N888 Hs.211713 2188631;2188645;2188661;2188677;2188681;5017969;5017971;5022826;5095143;5095145;5095147;5095149;5095151;5095153;5095155;5095157 BCoRP-10;BCoRP-12;BCoRP-13;BCoRP-14;BCoRP-4-1;BCoRP-4-2;BCoRP-4-3;BCoRP-4-4;BCoRP-4-5;BCoRP-4-6;BCoRP-9;G66368;G66375;G66383;G66391;G66543 BCORL2;FLJ39821 BCoR-like protein 2;putative BCoR-like protein 2 APPROVED pseudo 23953 08266 VALIDATED 1349428 BCRL2 breakpoint cluster region-like 2 3267213 614 1015 1319131 BCO2 beta-carotene oxygenase 2 This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 11 11 11 q23.1 109199441 109242886 + 111551418 111594862 + 112046208 112089652 + 1580863;6480464 11278918;15983114;15949678;14702039;12477932;8889548;16712791;21106934;22610502;18464913;20150558;19913121;20628086;21302131;20967262 83875 B2RCV8;E9PPP9;E9PS89;H0YCL7;H0YCN8;Q9BYV7 AB096252;ABBA01039801;ABBA01039802;AF276432;AJ290393;AK027801;AK091783;AK297853;AK315300;AMYH01004035;AP002884;BC041656;BC047934;BU732625;BX503569;CB162567;CD708042;CH471065;EF444956;NM_001037290;NM_001256397;NM_001256398;NM_001256400;NM_031938 AAH41656;AAK69433;ACA05952;BAB55379;BAC03747;BAG37705;BAG60185;CAC27994;EAW67189;EAW67190;EAW67191;EAW67192;EAW67193;EAW67194;NP_001032367;NP_001243326;NP_001243327;NP_001243329;NP_114144;Q9BYV7 Hs.728325 2133939;5125809 RH77842;SGC30933 B-DIOX-II;BCDO2;FLJ34464 OTTHUMP00000163945;OTTHUMP00000196941;OTTHUMP00000196942;OTTHUMP00000234754;OTTHUMP00000234755;OTTHUMP00000234756;b,b-carotene-9',10'-dioxygenase;beta,beta-carotene 9',10'-dioxygenase variant 1;beta,beta-carotene 9',10'-oxygenase;beta-carotene 9',10' oxygenase;beta-carotene dioxygenase 2 APPROVED protein-coding ENSG00000197580 18503 12522 611740 REVIEWED 1353768 BCRL6 breakpoint cluster region-like 6 q11.23 10591208 23775 AP000359 breakpoint cluster region-like 6 protein-coding 1019 4144675 BCRP1 breakpoint cluster region pseudogene 1 22 22 22 q11.23 8453760 8460124 - 22982958 22987566 - 24653368 24659733 - 3267213;22199321 644079 AMYH01012663;AP000354;NG_009423 BCR-1 pseudo 39073 INFERRED 1344297 BCRP4 breakpoint cluster region pseudogene 4 22 22 q11.22 21302536 21309055 + 22972536 22979055 + 10591208;9074928 616 AMYH01012639;D87002;NG_000002 BCR-4;BCR4;BCRL4 APPROVED pseudo 1017 113660 VALIDATED 1320189 BCLAF1 BCL2-associated transcription factor 1 This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 q22-q23 136619694 136652682 - 136578001 136610989 - 6480464 10330179;15009215;17938203;17081983;16964243;16565220;16083285;15681850;15659558;15489334;15324660;15302935;14574404;12477932;8724849;12890497;21145461;20661537;10837489;18029348;19705920;20855536;16055720;16159877;21182205;22990118;21454709;16196087;20360068;19471022;21139048;21693764;21890473;21906983;21628590;22645331;17620599;22318606;22833098;18271526;22952844 9774 B0AZU3;E9PJA7;E9PK09;E9PK91;E9PKI6;E9PQN2;H0YF00;H0YF14;H0YF63;Q9NYF8 ABBA01025829;AF249273;AK303559;AK308870;AK309259;AK315884;AL121713;AMYH01016696;BC016682;BC047687;BC047887;BC056894;BC063846;BC078160;BC132780;BC144281;BC144282;BC144299;BX107174;BX537576;BX648431;BX648878;BX649160;CH471051;D79986;NM_001077440;NM_001077441;NM_014739 AAF64304;AAH16682;AAH47687;AAH47887;AAH56894;AAH63846;AAH78160;AAI32781;AAI44282;BAA11481;BAF98775;BAH13985;EAW47949;EAW47950;EAW47951;EAW47952;NP_001070908;NP_001070909;NP_055554;Q9NYF8 Hs.486542 1665188;1665190;1671526;1673449;1676426;1679331;1720217;1740131;1744339;2121580;2132002;2184895;2186759;2189551 A005T27;D6S1538;D6S2199;G20483;GDB:451730;RH124022;RH1522;RH25382;RH47371;RH68011;RH93195;SHGC-56727;STS-AA037848;UniSTS:236317 BTF;KIAA0164;bK211L9.1 OTTHUMP00000017270;OTTHUMP00000234711;OTTHUMP00000234733;OTTHUMP00000234734;OTTHUMP00000234777;OTTHUMP00000234778;OTTHUMP00000234780;OTTHUMP00000234781;bcl-2-associated transcription factor 1 APPROVED protein-coding ENSG00000029363 16863 16544 612588 REVIEWED 1346589 BCORL1 BCL6 corepressor-like 1 The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] X X X q25-q26.1 129525724 129578619 + 128944350 129019282 + 129139164 129192058 + 6480464 17697391;17379597;14702039;12477932;16344560;18029348;21989985;19471022;21139048;21693764;21906983;22318606;22325352;23064961;23523425;22505724 63035 H7C4B2;Q5H9F3 ABBA01047875;ABBA01047876;ABBA01047877;ABBA01047878;ABBA01047879;ABBA01047880;AI209024;AK021424;AK024395;AK074089;AK124676;AL034405;AL096777;AL136450;AMYH01022968;AMYH01022969;BC044652;BE244710;BE246581;CH471107;DA227697;NG_021274;NM_021946;Z82208 AAH44652;AAI56743;BAB13821;BAB84915;BAC85922;CAB46626;EAX11815;EAX11816;EAX11817;EAX11818;NP_068765;Q5H9F3 Hs.496748 1677146;1691600;1699392;2156851;2172550;2185192;5037552;5037554 AFM338za9;AL008917;AL032547;D8S2279;D8S2282;DXS9756;RH103287;RH93023 B930011H20Rik;BCoR-L1;CXorf10;FLJ11362;FLJ11632 BCL-6 corepressor-like protein 1;BCL6 co-repressor-like 1;BCoR-like protein 1;OTTHUMP00000023995;OTTHUMP00000023996 APPROVED protein-coding ENSG00000085185 25657 06517 300688 REVIEWED 1605782 BCRP2 breakpoint cluster region pseudogene 2 22 22 q11.21 19787305 19806575 + 21457305 21476575 + 14702039;10591208;3267213 400892 ABBA01012519;AK124943;AP000550;NR_037566 BAC86000 Hs.505361 BCR-2;BCR2;BCRL2;FLJ36027;FLJ42953 APPROVED pseudo 1015 13467 113630 VALIDATED 1606540 BCOR BCL6 corepressor The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. Several transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome Y.[provided by RefSeq, Jun 2010] X X p11.4 39795561 39846998 - 39910499 40036582 - 6480464;7240710 15004558;16943429;10898795;15878880;17517692;18280243;16713569;15770227;15489334;15302935;14702039;12776190;12522145;12477932;12116202;11777915;10997877;8125298;22318606;22325352;21139048;21693764;21890473;21906983;20431927;19578371;18801742;22301464;20807888;20854876;22012066;21963094;23000965;20639865;21987572;22387997;19471022;20301694;23523425;23074094;19121354;23470693;22053931;22505724 54880 A6NE70;C9JHP3;H7BYY2;H7BZ37;H7C231;H7C2V9;Q9H232 AB046795;ABBA01046854;ABBA01046855;ABBA01046856;ABBA01046857;ABBA01046858;ABBA01046859;ABBA01046860;ABBA01046861;ABBA01046862;ABBA01046863;ABBA01046864;ABBA01046865;ABBA01046866;ABBA01046867;ABBA01046868;ABBA01046869;ABBA01046870;ABBA01046871;ABBA01046872;ABBA01046873;ABBA01046874;AC091806;AC092198;AF317391;AF317392;AK000292;AK056538;AK074286;AK095360;AK225581;AL591802;AL698729;AMYH01022220;AMYH01022221;AMYH01022222;AMYH01022223;AY316592;BC009675;BC063536;BC114220;BC128387;BC128456;CH471141;NG_008880;NM_001123383;NM_001123384;NM_001123385;NM_017745 AAG41429;AAG41430;AAH09675;AAH63536;AAI14221;AAI28388;AAR08265;BAA91061;BAB13401;BAB85037;BAG53034;EAW59425;EAW59426;EAW59427;EAW59428;EAW59429;EAW59430;NP_001116855;NP_001116856;NP_001116857;NP_060215;Q6W2J9 Hs.659681 1647633;1649667;1683044;1697002;1702084;1758289;2144369;2188681;2220442 DXS228;DXS7568;DXS992;G66543;RH101975;RH91894;SHGC-147935;SHGC-56557;UniSTS:482364 ANOP2;FLJ20285;FLJ38041;KIAA1575;MAA2;MCOPS2;MGC131961;MGC71031 BCL-6 corepressor;BCL-6 interacting corepressor;BCL6 co-repressor;OTTHUMP00000025761;OTTHUMP00000025763;OTTHUMP00000025766;OTTHUMP00000025767;OTTHUMP00000202255 APPROVED protein-coding ENSG00000183337 20893 06458 300166;300485 REVIEWED 4144530 BCRP6 breakpoint cluster region pseudogene 6 22 22 q11.21 19972108 19976715 - 21642518 21648878 - 728468 AP000552;NG_009421 pseudo 39074 INFERRED 4144517 BCRP7 breakpoint cluster region pseudogene 7 22 22 q11.21 17219387 17229298 - 18839797 18846153 - 100133163 AC008103;AC008132;AMYH01012466;NG_009420 pseudo 39075 INFERRED 1346208 BCRP5 breakpoint cluster region pseudogene 5 22 22 q11.21 19379726 19383194 - 21049726 21053247 - 10591208 648980 ABBA01015447;AC007050;AMYH01012537;NG_009418 BCRL5 breakpoint cluster region-like 5 APPROVED pseudo 1018 INFERRED 1343553 BCYRN1P2 brain cytoplasmic RNA 1, pseudogene 2 q42 8265590;7684772 620 AADB02001168;ABBA01048064;NG_001085;U01308 BC200g pseudo 1024 INFERRED 4144531 BCRP8 breakpoint cluster region pseudogene 8 22 22 22 q11.23 7336577 7337546 - 21850726 21853015 - 23522110 23522359 - 1317490;1763041;1868241;2193202;2678002;2915904;3023859;3107980;3194194;3463934;6281890;6316147;6319012;7063411;7506601;7665185;8453102 100133044 ABBA01055103;AMYH01012640;NG_032057;U07000 1742185;1744391;5017629 BCR;GDB:193184;GDB:452640 pseudo 39076 INFERRED 1352977 BCRP3 breakpoint cluster region pseudogene 3 22 22 22 q11.23 7466119 7474738 + 23355513 23379737 + 25028882 25049327 + 6480464 3267213;10591208;16344560;3267213 644165 ABBA01055143;ABBA01055144;ABBA01055145;AK297038;AMYH01012670;AP000356;AW193769;BM920079;BX090183;DB345226;NR_024494 BAG59566 Hs.531306;Hs.655234;Hs.730665 5106704;5113551;5117214 GDB:451800;RH66855;RH80432 BCR3;BCRL3;BCRL6 APPROVED pseudo 1016 113640 VALIDATED 1352984 BCYRN1P1 brain cytoplasmic RNA 1, pseudogene 1 X X X q27.1 139170224 139170420 + 138630404 138630607 + 138802738 138802934 + 8265590;7684772 619 ABBA01066060;AL161777;AMYH01023059;NG_003040;U01307 BC200b pseudo 1023 INFERRED 5130619 BCYRN1P3 brain cytoplasmic RNA 1, pseudogene 3 13 13 13 q11 355128 355321 - 18181822 18182140 - 19283849 19284042 - 8265590 654337 AL391382;AMYH01004930;NG_005375 pseudo 39833 INFERRED 1349102 BCYRN1 brain cytoplasmic RNA 1 This gene, which encodes a neural small non-messenger RNA, is a member of the family of interspersed repetitive DNA, and its product represents an example of a primate tissue-specific RNA polymerase III transcript. The RNA sequence is divided into three domains: a 5' portion homologous to the Alu Lm, a central adenosine-rich region, and the terminal 43-nt nonrepetitive domain. It is believed that this gene was retropositionally generated and recruited into a function regulating dendritic protein biosynthesis. At least two pseudogenes of this gene have been identified. [provided by RefSeq, Jul 2008] 2 2 2 p21 47401236 47401434 + 47415958 47416157 + 47562454 47562653 + 6480464 17553964;16054886;15240511;11399078;9858834;8265590;7684772 618 ABBA01075156;AC079775;AF020057;AMYH01010322;NG_005471;NR_001568 BC200;BC200a;LINC00004;NCRNA00004 APPROVED miscrna 1022 606089 REVIEWED 1342712 BDK bradykinin 589 1028 614923 1351481 BDH2P1 3-hydroxybutyrate dehydrogenase, type 2 pseudogene 1 6 6 6 q16.2 100266678 100269574 + 99729168 99732267 + 99622547 99625446 + 389416 ABBA01014489;AL591803;AMYH01016537;NG_005299 1676826;1677488 RH94279;SHGC-67353 DHRS6P1;bA758C21.1 dehydrogenase/reductase (sdr family) member 6 pseudogene 1 pseudo 21476 INFERRED 1348244 BDM behavior disorder modifier 625 1031 1354326 BDMR brachydactyly-mental retardation syndrome 7240710 7847374 626 1032 600430 1317506 BCR breakpoint cluster region A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q11.23 21852552 21990224 + 23522552 23660224 + 1580863;1600510;1600511;6480464;6907045;7240710 3101769;11560856 20141430;20442314;22542470;1903516;1657398;19240172;19203346;19135771;19067742;19061839;19048492;19020542;18827185;18809762;18794796;18784740;18704194;18676680;18617057;18603549;18603297;18549649;18538733;18503828;18495245;18474292;18406872;18406870;18391951;18385754;18354488;18287094;18246120;18227349;18082628;18070886;17939855;17934518;17928051;17822820;17768128;17762503;17710227;17638918;17638851;17597804;17579186;17374743;17349636;17347407;17303698;17196995;17145570;17102890;17090304;17081983;17018862;16998483;16966279;16955467;16914906;16912036;16888785;16855631;16849647;16670264;16631477;16598834;16596225;16543472;16502580;16502579;16494625;16490599;16481037;16469868;16449534;16442619;16442529;16418324;16264277;16116902;16079118;15968309;15866548;15857938;15735728;15723338;15716990;15684424;15626746;15542838;15494376;15489334;15481444;15389825;15248918;15145216;15144186;14993251;14966468;14961028;14702039;14656881;14654084;14581377;14534537;12890867;12821944;12808105;12781448;12764153;12734675;12560071;12556557;12522270;12477932;12408765;12370803;12145699;12144533;12115002;12114534;12096337;12023981;11790798;11780146;11746971;11376433;11069024;10887126;10508479;9949177;9874796;9747873;9566916;9467953;9407116;9211920;9209414;9178913;9053848;8955135;8756631;8622703;8502487;8453102;8204871;8112292;7939633;7724587;7665185;7529874;7506601;6584200;6319012;6316147;6281890;3540951;3463934;3422516;3285291;3194194;3118359;3107980;3023859;2989703;2989692;2915904;2825022;2263470;2193202;1900918;1868241;1763041;1712671;1706781;1317490;9535855;9788431;15143164;10887132;10706130;7534286;12543778;16169070;9071815;7606002;8757502;12393433;12592324;10849448;10194128;8978305;9872323;8195176;2678002;2407300;1383690;21489624;2820585;21266020;21239056;20015884;16045749;16825666;17643375;19170196;19261608;19295548;19369965;19557636;19571320;19608682;19615732;19619277;19625176;19625707;19652056;19692168;19718053;19724931;19840940;19876398;19911011;20007699;20010464;20028985;20038234;20351714;20463552;20379614;20633771;20207846;20697350;20452982;16778200;20739956;20717963;20520635;20607847;21156844;21183952;21045136;22233112;22587422;22772060;22231445;22957062;23062104;22847163;23086624;23124138;21203397;21674858;17314511;20304029;21248063;21935931;21330459;21310073;21641753;22782217;23317202;23455922;21693761;21504383;21764785;21908428;20675402;21762985;21900237;21895409;21903771;21960589;21124777;22591684;22593461;23062378;23396943;22665066;23047475;21139048;21906983;22526369;22184410;22327125;22471662;16999686;22384256;22447844;8943292;8621719;14725908;22230800;22889411;23269583;12586822;17110338;21706016;21963094;23171834;23207522;23223358;22896000;19380743;22952844;15123239;23428668;22787435;23287430 613 A9UF05;H0Y554;P11274 AB209991;AB742170;AB742171;ABBA01055103;ABBA01055104;ABBA01055105;ABBA01055106;AF192533;AF487522;AK122842;AK124310;AK128501;AK303241;AM491360;AMYH01012640;AMYH01012641;AY533677;AY536245;AY536246;AY536247;AY536248;AY536249;AY536250;BC031568;BC041705;BC053641;BC063619;BC066122;BC071742;BC083493;BQ422888;CH471095;EU216058;EU216059;EU216061;EU216062;EU216063;EU216064;EU216067;EU216069;EU216070;EU394718;HQ622706;L02935;M15025;M17542;M55395;M64437;NG_009244;NM_004327;NM_021574;U07000;X02596;X06418;X14676;X52828;X52829;Y00661 AAA35594;AAA35595;AAB60388;AAB60389;AAB60390;AAF61858;AAH83493;AAL99544;AAN76489;AAS46907;AAS46908;AAS46909;AAS46910;AAS46911;AAS46912;AAS57923;ABX82700;ABX82701;ABX82703;ABX82704;ABX82705;ABX82706;ABX82709;ABX82711;ABX82712;ABZ01959;ADU04570;BAE06073;BAG64327;BAM36291;BAM36292;CAA26441;CAA29726;CAA32806;CAA37010;CAA37011;CAA68676;CAM33010;EAW59564;EAW59565;EAW59566;EAW59567;EAW59568;EAW59569;EAW59570;NP_004318;NP_067585;P11274 Hs.517461;Hs.715409 1336560;1676049;1687616;1709268;1722413;1741551;1741553;1742081;1742185;1744391;1784512;2121612;2125985;2134929;2147343;2160552;2165026;5015961;5016596;5017629;5019735;5021596;5022322;5022403;5096226;5106704;5108177;5113551;5117214;5119527;7190681;7190691 A005T29;A009L29;BCR;D11S2560;D15S1477;D22S1027;D22S1100E;D22S257;G20484;G32654;G60279;GDB:177065;GDB:181503;GDB:181505;GDB:190907;GDB:193184;GDB:315173;GDB:451800;GDB:452640;GDB:631802;RH11197;RH27788;RH66855;RH70541;RH80432;SHGC-170331;SHGC-30277;SHGC-85827;SHGC-9196;STS-H69004 ALL;BCR1;CML;D22S11;D22S662;FLJ16453;PHL BCR/FGFR1 chimera protein;FGFR1/BCR chimera protein;OTTHUMP00000028949;OTTHUMP00000067895;breakpoint cluster region protein;renal carcinoma antigen NY-REN-26 APPROVED protein-coding ENSG00000186716 1014 01044 151410;608232;613065 REVIEWED 1344282 BDNF-AS BDNF antisense RNA 11 11 11 p14.1 27674107 27865830 + 27484975 27655928 + 27528399 27719718 + 17629449;15666411;21708048;19079260;22446693;20418890 497258 ABBA01060968;ABBA01060969;ABBA01060970;AC087750;AC100771;AC104563;AJ011597;AMYH01003456;AY054391;AY054401;AY054402;AY054403;AY054404;AY054405;AY513486;EF689022;EF689023;EF689024;EF689025;EF689026;EF689027;EF689028;EF689029;EF689030;EF689031;EF689032;EF689033;EF689034;EF689035;EF689036;EF689037;EF689038;EF689039;EF689040;EF689041;EF689042;NR_002832;NR_033312;NR_033313;NR_033314;NR_033315 Hs.675323 1342139;1725223;1732161;1737071;1742497;1770238;1774978;1790321;1797316;2122427;2144667;5108883 AFMB358ZC5;BDNF;BDNF-1;BDNF_2411;D11S1149;D11S1446;D11S1570;D11S2825;D11S4152;D11S4429;GDB:197571;RH118904 ANTI-BDNF;BDNF;BDNF-AS1;BDNFOS;BT2A;BT2B;BT2C;BT2D;NCRNA00049 APPROVED miscrna ENSG00000245573 20608 611468 VALIDATED 730874 BDKRB1 bradykinin receptor B1 Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. Two types of G-protein coupled receptors have been found which bind bradykinin and mediate responses to these pathophysiologic conditions. The protein encoded by this gene is one of these receptors and is synthesized de novo following tissue injury. Receptor binding leads to an increase in the cytosolic calcium ion concentration, ultimately resulting in chronic and acute inflammatory responses. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 14 14 q32.1-q32.2 95792312 95800853 + 96722547 96731100 + 704381;704378;1580863;704379;704380;1625733;1625732;628496;1579989;2313334;5129217;5129229;5129222;4890450;5129227;5129214;5129218;5129220;6480464;6907045;7241550;7241551;7241554;7241559;7241560;7241561;7175321;7241569;7241570;1625040;7241581;7241582 12746865;12025958;12489796;12522068;17184856;15643125;12411434;12927641;18311190;17618300;20451601;20587056;17852785;18182225;17988733;11853231;12165532;20479236;20448019;18809736;18725957;9555662;10809796;21412216;20092893;15878326;15576455;12637034;10604543 7495867;17327486;17303584;17128974;17110500;16644486;15883268;15840906;15837330;15805101;15705059;15681300;15634338;15520046;15492119;15489334;15033977;14499231;12481150;12477932;12450400;12130679;12063092;12025967;11880373;11710536;11025765;10329474;10188626;8995263;8808279;10422787;8063797;9930991;19086053;19082699;19038786;18938142;18577888;18467203;18187413;18039525;18039523;17878384;17328065;21454694;8660997;8651911;11278902;21216565;18240029;19120546;19184415;19404481;19546528;19641039;19661485;19725054;19796797;19885862;20152050;21147512;18577758;16754659;19913121;20628086;21052031;21986309;16712791;20189583;22088753;21871009;22092568;22468084;22971439;22706224;23201435 623 G3V4Y2;P46663 AB065896;ABBA01048595;AF117819;AJ238044;AK291970;AK309528;AL355102;AMYH01005977;AY275464;BC034705;CB130642;CH471061;L42383;NM_000710;U12512;U22346;U30271;U48231;W49512 AAA21346;AAB60693;AAC50594;AAD14824;AAD17233;AAH34705;AAP32296;ABM82202;ABM85390;BAC06112;BAF84659;CAB45650;EAW81632;NP_000701;P46663 Hs.525572 1654251;2220336 BDKRB1;RH17999 B1BKR;B1R;BKB1R;BKR1;BRADYB1 B1 bradykinin receptor;BK-1 receptor;OTTHUMP00000245974;bradykinin B1 receptor;bradykinin receptor 1 APPROVED protein-coding 1029 02639 600337 REVIEWED 2289748 BDP1P B double prime 1 pseudogene 18 18 18 q23 71963251 71968444 - 73272904 73278292 - 75144013 75149205 - 724038 ABBA01015295;AC124254;AMYH01009115;NG_005602 1681686;2128853 NIB1337;RH68238 pseudo 31044 INFERRED 737289 BDH1 3-hydroxybutyrate dehydrogenase, type 1 This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 3 3 3 q29 195829052 195891752 - 198721051 198784591 - 197236654 197300194 - 1580863;2326093;2326100;4105460;6480464;6484113;6907045 15877199;3548709;3422549 1639787;19027726;15489334;12477932;11752456;11009606;10933785;8889549;8679568;8615695;7686368;17207965;20877624;21832049;18029348;21791085 622 C9JB83;C9JEB9;C9JM78;C9JQ90;C9K0G7;E9PCG9;H7C2W1;Q02338 ABBA01033769;ABBA01033770;ABBA01033771;ABBA01033772;AC128709;AC132008;AK126701;AMYH01013803;AMYH01013804;AMYH01013805;AMYH01013806;AV645953;BC005844;BC011964;BC019317;BC021183;BE782251;BI601294;BQ897235;CH471191;EF095211;H80183;M93107;NM_004051;NM_203314;NM_203315 AAA58352;AAH05844;AAH11964;AAH19317;ABL01515;ADQ32361;EAW53606;EAW53607;EAW53608;EAW53609;NP_004042;NP_976059;NP_976060;Q02338 Hs.274539 1646551;1653945;1664103;1671414;2140547;2160565;5037552 D3S4168;D8S2279;RH12227;SGC33667;SHGC-77706;STS-H66146;WI-16787 BDH;MGC2723;MGC4347;MGC9788;SDR9C1 (R)-3-hydroxybutyrate dehydrogenase;3-hydroxybutyrate dehydrogenase (heart, mitochondrial);D-beta-hydroxybutyrate dehydrogenase, mitochondrial;OTTHUMP00000208056;OTTHUMP00000208057;OTTHUMP00000208058;OTTHUMP00000208059;OTTHUMP00000208060;short chain dehydrogenase/reductase family 9C, member 1 APPROVED protein-coding ENSG00000161267 1027 04344 603063 REVIEWED 1604606 BDH2 3-hydroxybutyrate dehydrogenase, type 2 4 4 4 q24 101295921 101318163 - 104218231 104240473 - 103998782 104021024 - 6480464;6907045 15489334;14702039;12975309;12477932;10931946;16380372;19027726;20332099;17893145;22527885;21791085;21139048;21890473;21906983;22053931 56898 D6R9U8;D6RBF6;D6RFG2;D6RIR6;Q9BUT1 ABBA01063707;AC097485;AF164790;AK023323;AK128463;AK290160;AK291335;AK300626;AMYH01014434;AW136198;AY358841;BC001953;BC037277;BC095414;BI544872;CH471057;CR457309;HB929452;HB945850;HB959532;HC986861;HD003260;HD016942;NM_020139 AAF80754;AAH01953;AAH37277;AAH95414;AAQ89200;BAB14526;BAF82849;BAF84024;BAG54681;BAG62318;CAG33590;CBF99640;CBG07667;CBG14351;CBV13160;CBV21189;CBV27865;EAX06163;EAX06164;EAX06165;EAX06166;EAX06167;EAX06168;NP_064524;Q9BUT1 Hs.124696 1676826;1677060;1677488;1713811;2160181 RH120792;RH91916;RH94279;SHGC-67353;STS-N58734 DHRS6;EFA6R;FLJ13261;PRO20933;SDR15C1;UCPA-OR;UNQ6308 3-hydroxybutyrate dehydrogenase type 2;OTTHUMP00000082657;R-beta-hydroxybutyrate dehydrogenase;dehydrogenase/reductase (SDR family) member 6;dehydrogenase/reductase SDR family member 6;oxidoreductase UCPA;short chain dehydrogenase/reductase family 15C, member 1 protein-coding 32389 07103 VALIDATED 737386 BDKRB2 bradykinin receptor B2 This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. This receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. Alternate start codons result in two isoforms of the protein. [provided by RefSeq, Jul 2008] 14 14 q32.1-q32.2 95740950 95780542 + 96671135 96710666 + 1331525;1580863;704378;704379;2313334;2313332;2313335;4890456;4890451;4891041;4891031;4891040;4891042;4891055;4890452;4890450;4890453;4890457;4891024;4891039;4890454;4891044;4891028;4891033;4891026;4891030;4891032;4891034;4891025;4891027;4890455;4891029;4891047;5129227;6480464;6907045 15118671;12025958;12489796;18311190;19300402;17596525;11517947;16600946;9208140;12522467;10188975;8856156;19950773;16138314;17852785;15878794;10702448;9039147;10385260;14727005;1890650;19038786;11149999;21052031;15021973;11699055;10904024;7791078;19744011;11934804;15316088;20080302;18182225 8302267;17077303;10993080;1314587;10653985;7916737;19420105;19339996;19110485;19086053;19082699;19074839;19017652;18938142;18927465;18810490;18672896;18577888;18467203;18430865;18258629;18187413;18180402;18096516;18039523;17593394;17569300;17522594;17420253;21600887;22108573;22468762;17363739;17328065;17327486;17303584;17299793;17207964;17110500;17030791;16950802;16740128;16489763;16461337;16344560;16294326;16263113;16144969;15894833;15805101;15771553;15664665;15654972;15643126;15643125;15634338;15489334;15301669;15281091;15161928;15117835;15114524;15112434;15033977;14607851;14499231;12851878;12705334;12640257;12489797;12481150;12477932;12450400;12177051;12130679;12107246;12063092;12039525;12025967;11954665;11908480;11747451;11710536;11517230;11446495;11409654;11324803;10748135;10681501;10510297;10469138;10188626;10085087;8900488;8777990;8652530;8394991;8063797;7835885;7779090;7779089;1329734;15664511;22304584;21108627;21145390;16754659;18240029;19120546;19404481;19456859;19565561;19578796;19580784;19628666;19716087;19725054;19854233;19885862;20036225;20044476;20045189;20050188;20201926;20300066;20511677;2834384;19913121;20473401;20592051;20602751;20628086;20856803;20944660;20952631;21451024;22653778;23132855;23093849;21626144;21719759;20189583;21586566;21602894;21871009;22047990;21210858;22935637;21986469;22016392;23176367;23243416;22706620;22706224;23275384;22900090 624 P30411;Q6LAU9 ABBA01048595;AF378542;AI095360;AK299316;AK311049;AL355102;AMYH01005977;AY275465;BC074894;BC074895;CH471061;CR749338;DA096163;DC422332;L27594;M88714;NM_000623;S45489;S56772;X69680;X86162;X86164;X86165;X86172;X86173 AAB02793;AAB23467;AAB25765;AAH74894;AAH74895;AAK56376;AAP32297;BAG61326;CAA49360;CAA60108;CAA60109;CAH18192;EAW81629;NP_000614;P30411 Hs.654542;Hs.726620 1792434;2150654 PMC150944P1;RH70880 B2R;BK-2;BK2;BKR2;BRB2;DKFZp686O088 B2 bradykinin receptor;BK-2 receptor;OTTHUMP00000245971 APPROVED protein-coding ENSG00000168398 1030 00213 113503 REVIEWED 1347169 BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Five alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq, Mar 2012] 2 2 q33 219232623 219236410 + 219524379 219528166 + 1600515;1580863;6480464;7240710 11528392 18628306;9878253;19162478;18386115;17403714;17314340;16344560;15489334;14702039;12477932;12215968;9792866;9545407;9110174;8619474;8599931;8125298;16169070;19389488;19508421;20518024;20877624;22939629;21890473;21900206;21906983;20301352;20301382;20301403;23000965;22797925 617 A8JZZ8;C9J1S9;C9J4Q9;C9J8G3;C9JAS4;H7BZF6;H7C492;Q9Y276 ABBA01023861;AC009974;AC079810;AF026849;AF038195;AF346835;AF516670;AK096210;AK223518;AK289363;AMYH01011497;BC000416;BC007500;BX571752;CH471063;DA540458;DA613959;EF672347;NG_008018;NG_033099;NM_001079866;NM_001257342;NM_001257343;NM_001257344;NM_004328 AAB97365;AAD08638;AAH00416;AAH07500;AAK29417;AAN05490;AAY24033;ABM82803;ABM85990;ABV24964;ACE86996;ACE87685;BAD97238;BAF82052;BAG53231;CAE11877;EAW70634;EAW70635;EAW70636;EAW70637;EAW70638;EAW70639;EAW70640;NP_001073335;NP_001244271;NP_001244272;NP_001244273;NP_004319;Q9Y276 Hs.471401 1299945;1336266;1338282;1659190;1777508;1777510;5020250;7184430 D2S1371;D2S163;D2S434;NIB1635;WI-12445;WI-14333;WI-15403 BCS;BCS1;BJS;FLNMS;GRACILE;Hs.6719;MC3DN1;PTD;h-BCS BCS1-like protein;OTTHUMP00000164147;OTTHUMP00000206492;OTTHUMP00000206493;OTTHUMP00000206494;OTTHUMP00000206495;OTTHUMP00000206496;OTTHUMP00000206497;h-BCS1;mitochondrial chaperone BCS1;mitochondrial complex III assembly APPROVED protein-coding ENSG00000074582 1020 04708 124000;256000;262000;603358;603647 REVIEWED 4106408 BECN1P1 beclin 1, autophagy related, pseudogene 1 1 1 1 q43 215376527 215377822 + 240187692 240188987 + 242121069 242122364 + 22393976;16710414;20529838;20564222;20589936;21274862;21455500;21450329;21646352;21623196;22205736;21691148;22081109 441925 A8MW95 ABBA01033262;AMYH01001875;BX571673;NG_022940 A8MW95 1779926 SHGC-154177 BECN1L1 pseudo 38606 INFERRED 1318324 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008] 5 5 q13 70787198 70899405 + 70751442 70863649 + 1580863;6480464 18391023;17499043;16542149;15469824;15342556;15096501;14592981;14527415;12477932;11214970;11161782;11040218;10574462;9171375;9169441;20379614;23251661 55814 H0YCV8;H7C5U4;Q9H197 AB033067;AB051476;ABBA01061892;ABBA01061893;ABBA01061894;ABBA01061895;AC138832;AF176695;AF298151;AF298152;AI537645;AJ238520;AJ278892;AJ279120;AJ279144;AJ279145;AJ279146;AJ279147;AJ279148;AJ279149;AJ279150;AK057871;AMYH01015400;AMYH01015401;BC032146;BC146792;BC161615;BP246483;BP347992;BX641011;CH471084;CR749229;CR749289;NM_018429 A6H8Y1;AAG09268;AAG30220;AAG30221;AAH32146;AAI46793;AAI61615;BAA86555;BAB21780;BAB71602;CAC04245;CAC17771;CAC21448;CAE46010;CAH18085;CAH18144;EAW95688;EAW95689;NP_060899 Hs.258272 1647660;1681686;1749721;1755363;1755587;1785736;2128853;2217068 BDP1_3608;NIB1337;RH66386;RH68238;SHGC-111398;SHGC-142246;SHGC-142442;SHGC-81262 DKFZp686C01233;DKFZp686K0831;HSA238520;KIAA1241;KIAA1689;TAF3B1;TFC5;TFIIIB'';TFIIIB150;TFIIIB90;TFNR OTTHUMP00000222182;OTTHUMP00000222187;OTTHUMP00000224505;RNA polymerase III transcription initiation factor B'';TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1;transcription factor IIIB 150;transcription factor TFIIIB component B'' homolog;transcription factor-like nuclear regulator APPROVED protein-coding ENSG00000145734 13652 06114 607012 REVIEWED 7206952 BEND3P1 BEN domain containing 3 pseudogene 1 10 q11.23 52417863 52423706 + 644459 ABBA01052480;AL589794;AMYH01002732;NG_011921 pseudo 45014 INFERRED 7206870 BEND3P2 BEN domain containing 3 pseudogene 2 9 q22.31 94933513 94935776 + 392368 ABBA01018582;AL136097;AMYH01021508;NG_011923 pseudo 45015 INFERRED 7206903 BEND3P3 BEN domain containing 3 pseudogene 3 10 q22.3 81442731 81448653 + 16344560 650623 ABBA01020204;AC068139;AL132656;AL603703;AMYH01002862;BX248123;DA227741;DN994631;NR_027512 Hs.730022 1698412 RH102748 pseudo 45016 PROVISIONAL 1350095 BEND2 BEN domain containing 2 This gene encodes a protein which has two BEN domains in the C-terminus. These domains are found in proteins which participate in protein and DNA interactions which occur during chromatin restructuring or transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] X X X p22.13 22300374 22358874 - 18090972 18148924 - 18181051 18239024 - 737633 12477932 16713569;15772651;15489334;19455595;21832049 139105 B3KXX8;Q8NDZ0 ABBA01071613;ABBA01071614;ABBA01071615;AK128155;AL096763;AMYH01022120;BC037301;BC096745;BX952865;CH471074;NG_021323;NM_001184767;NM_153346;Z92547 AAH37301;AAH96745;ABM83396;ABM86609;BAG54640;EAW98936;NP_001171696;NP_699177;Q8NDZ0 Hs.403802 CXorf20;MGC33653 BEN domain-containing protein 2;OTTHUMP00000022999 APPROVED protein-coding ENSG00000177324 28509 06646 VALIDATED 731027 BDNF brain-derived neurotrophic factor The protein encoded by this gene is a member of the nerve growth factor family. It is induced by cortical neurons, and is necessary for survival of striatal neurons in the brain. Expression of this gene is reduced in both Alzheimer's and Huntington disease patients. This gene may play a role in the regulation of stress response and in the biology of mood disorders. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jan 2009] 11 11 p13 27633016 27699872 - 27676440 27743605 - 631710;1331525;734643;734644;1580863;1300048;4891135;4891140;4891064;4891067;4891069;4891117;4891121;4891138;4891066;4891113;4891125;4891111;4891131;4891112;4891116;4891122;4891123;4891136;4891137;4891119;4891139;4891110;4891127;4891134;4891063;4891129;4891132;5144117;5508228;5684920;5684910;5684922;5684912;5684915;6480464;5684923;6907045;7240710 1889806;15118671;11840487;12836135;20554625;20223282;19958603;17584309;17317133;19895626;12917229;20417695;19203225;15821016;19366663;16186425;20646587;16022868;20464992;12752594;11737043;20544832;20452292;16061712;20227453;16315781;20920483;20557422;20874832;20818776;20600205;18266897;18780967;16141791;20079809;11360665;19686240;20656764;22097208 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627 E9PMP3;Q6YNR1;Q9BYY7 AB038670;AB038671;AB038672;AB038673;AB038674;ABBA01060968;AC103796;AC104563;AF400438;AF411339;AK289763;AK289853;AMYH01003456;AMYH01003457;AY011481;AY054392;AY054393;AY054394;AY054395;AY054396;AY054397;AY054398;AY054399;AY054400;AY054406;AY442188;AY656701;BC029795;CH471064;CX751420;DQ250642;EF674517;EF674518;EF674519;EF674520;EF674521;EF689009;EF689010;EF689011;EF689012;EF689013;EF689014;EF689015;EF689016;EF689017;EF689018;EF689019;EF689020;EF689021;M37762;M61176;M61181;NG_011794;NM_001143805;NM_001143806;NM_001143807;NM_001143808;NM_001143809;NM_001143810;NM_001143811;NM_001143812;NM_001143813;NM_001143814;NM_001143816;NM_001709;NM_170731;NM_170732;NM_170733;NM_170734;NM_170735;X60201;X60202;X91251 AAA51820;AAA69805;AAA96140;AAG47514;AAH29795;AAK92487;AAL23557;AAL23558;AAL23559;AAL23560;AAL23561;AAL23562;AAL23563;AAL23564;AAL23565;AAL23571;AAO15434;AAR14686;AAT74399;ABB51155;ABM81737;ABM84892;ABS29021;ABS29022;ABS29023;ABS29024;ABS29025;ABS32249;ABS32250;ABS32251;ABS32252;ABS32253;ABS32254;ABS32255;ABS32256;ABS32257;ABS32258;ABS32259;ABS32260;ABS32261;BAB55545;BAB55546;BAB55547;BAB55548;BAB55549;BAF82452;BAF82542;CAA42761;CAA62632;EAW68274;EAW68275;EAW68276;EAW68277;EAW68278;EAW68279;NP_001137277;NP_001137278;NP_001137279;NP_001137280;NP_001137281;NP_001137282;NP_001137283;NP_001137284;NP_001137285;NP_001137286;NP_001137288;NP_001700;NP_733927;NP_733928;NP_733929;NP_733930;NP_733931;P23560 Hs.502182 1336800;1731571;1737071;1742497;1774978;1790321;1797316;2144667 BDNF;BDNF-1;BDNF_2411;D11S1270;D11S2825;D11S4115;D11S4429;GDB:197571 ANON2;BULN2;MGC34632 OTTHUMP00000232005;OTTHUMP00000232006;OTTHUMP00000232013;OTTHUMP00000232014;OTTHUMP00000232015;OTTHUMP00000232016;OTTHUMP00000232018;OTTHUMP00000232019;OTTHUMP00000232020;OTTHUMP00000232021;OTTHUMP00000232022;OTTHUMP00000232039;OTTHUMP00000232040;OTTHUMP00000232041;OTTHUMP00000232043;abrineurin;brain-derived neurotrophic factor;neurotrophin APPROVED protein-coding ENSG00000176697 1033 00214 113505;164230;209880;607499;610269 REVIEWED 4144982 BEAN1 brain expressed, associated with NEDD4, 1 The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 16 16 16 q21 50966717 51023308 + 65018120 65074249 + 66461200 66527432 + 6480464 11042109;12477932;14702039;19878914;8619474;8889548;9110174;20723845;21163552;21921537;22049201;19953087 146227 H3BRW1;J3KRN6;Q3B7T3 AB472390;AB472391;AB472392;AB472393;AB472394;AB472395;AB472396;AB472398;AB472399;ABBA01025406;ABBA01025407;ABBA01025408;AC010542;AC132186;AF070610;AK056142;AMYH01007738;AMYH01007739;BC000818;BC105723;BC105724;BC107477;BM666201;CH471092;NG_021403;NM_001136106;NM_001178020;NM_001197224;NM_001197225 AAI07478;BAG51632;EAW83011;NP_001129578;NP_001171491;NP_001184153;NP_001184154;Q3B7T3 Hs.740218;Hs.740219;Hs.97805 1686462;1738493;2142447 D16S2688;RH92071;SHGC-60691 BEAN;SCA31 brain-expressed protein associating with Nedd4 homolog;protein BEAN;protein BEAN1 APPROVED protein-coding ENSG00000166546 24160 612051 REVIEWED 1347685 BEND3 BEN domain containing 3 6 6 6 q21 108134718 108184092 - 107493078 107527182 - 107386385 107435636 - 6480464 12477932;10997877;19615732;22990118;17000644;21914818;19471022;21549307;21693764;22242598;22586326;21252943 57673 Q5T5X7 AB046773;ABBA01026181;ABBA01026182;AK026996;AL355586;AMYH01016569;BC131628;NM_001080450 AAI31629;BAB13379;NP_001073919;Q5T5X7 Hs.418045 1678499;1744345;1770682;1770684;5038476 A005Y28;D3S3992;G20599;GDB:451760;RH27230 KIAA1553;RP11-59I9.2 BEN domain-containing protein 3;OTTHUMP00000016928 protein-coding ENSG00000178409 23040 VALIDATED 733440 BECN1 beclin 1, autophagy related Beclin-1 participates in the regulation of autophagy and has an important role in development, tumorigenesis, and neurodegeneration (Zhong et al., 2009 [PubMed 19270693]).[supplied by OMIM, Jul 2010] 17 17 q21 38215678 38229807 - 40962150 40976310 - 634559;1580863;1643194;1643198;1643329;4889529;6480464;6483317;6483074;6483077;6483070;6483094;6483068;6483098;6483072;6483316;6483066;6483048;6483100;6483050;6483046;6483314;6483081;6483101;6483057;6483076;6483096;6483102;6483312;6483313;6483069;6483054;6907045 9765397;16697404;17665967;15325588;20034776;20187128;21270095;20823696;21490676;19574998;21926933;18500386;21478185;21592995;22001349;22476098;21806471;22449108;22521819;16874043;20539009;18497889;22227058;20838925;19138675;20863706;19864570;17936001;21866636;22306244 19375507;19347031;19325567;19318089;19298604;19289499;19180116;19060920;19050071;18843052;18829541;18797192;18769161;18641390;18628207;18552835;18497881;18184403;18005679;17999086;17786023;17659302;17643073;17595761;17589504;17550384;17446862;17438366;17337444;17272502;17203225;16874027;16857678;16718815;16713569;16522639;16390869;16267277;15922724;15489334;14970205;14966907;12477932;12372286;11564866;11309306;11306555;10604474;10395800;8125298;7829101;20037818;22248718;22310240;7490091;19270693;19713971;20639699;20473282;20150769;20190558;19798108;20559548;20638385;20562859;20842118;20207475;20697744;19921231;20643123;17236580;17355787;17441324;17441338;18184459;19066461;19130303;19145109;19218137;19270696;19372752;19395874;19520853;19535901;19535919;19556884;19641499;19680556;19762066;19778902;20004946;20009549;20010695;20023428;20090905;20206246;20230646;16417406;20937944;21209283;21353614;20368806;20454448;21239722;22805532;22933281;21444671;21203962;20889974;21420796;21962518;21537144;22648564;21729531;19298526;21327823;21543763;21769915;21936852;20501938;21499230;21711108;21722286;21556768;21890473;21906983;22039439;22314358;22095667;21777947;21779982;21861179;22147978;22493499;22242123;22240664;21875280;22301112;22393062;21610315;21646862;21654208;21750416;22157765;21081164;21873141;22081109;22627130;22742832;22392728;22674982;22875631;23197835;22286270;23264393;23337876;22733132;23225331;23334926;23184933;22650021;22797916;23089287;23316280;23564079;23029344;20921139;21358617;22498477;19635843;21976705;22174682;22335943;23112296;21681342 8678 E7EV84;K7EKK2;K7EL88;K7ELY9;K7EMA2;K7EN35;K7EPZ0;K7EQQ7;K7ER46;K7ERY0;K7ES83;K7ESG3;Q14457 ABBA01006406;ABBA01006407;AC016889;AF077301;AF139131;AK223411;AK298619;AK299616;AK312651;AMYH01008398;BC010276;BI496049;BX647788;CH471152;DC296896;L38932;NM_003766 AAB59573;AAC68653;AAD27650;AAH10276;ABM82559;ABM85749;BAD97131;BAG35534;BAG60798;BAG61544;EAW60888;EAW60889;EAW60890;NP_003757;Q14457 Hs.716464 1654805;1659134;2122816;2122818;2145305;2162511;2185825 A005R43;G20453;RH17649;RH48446;RH48640;STS-U17909;WI-11793 ATG6;VPS30;beclin1 ATG6 autophagy related 6 homolog;beclin 1 (coiled-coil, moesin-like BCL2 interacting protein);beclin 1 (coiled-coil, moesin-like BCL2-interacting protein);beclin 1 (coiled-coil, myosin-like bcl2-interacting protein);beclin-1;coiled-coil myosin-like BCL2-interacting protein APPROVED protein-coding ENSG00000126581 1034 05087 604378 VALIDATED 1605502 BEND4 BEN domain containing 4 4 4 4 p13 42560029 42602526 - 41807714 41849652 - 42112870 42154895 - 6480464 14702039;12477932 389206 Q6ZU67 AA757195;AB126828;AB126829;ABBA01014283;ABBA01014284;ABBA01014285;AC111006;AK092951;AK125953;AMYH01014134;BC128592;BC128593;CH471069;NM_001159547;NM_207406 AAI28593;AAI28594;AAI46594;AAI48434;BAC86359;BAD93191;BAD93192;EAW93001;NP_001153019;NP_997289;Q6ZU67 Hs.120591 1717233 RH122031 CCDC4;FLJ35632;FLJ43965;MGC157807;MGC157808 BEN domain-containing protein 4;OTTHUMP00000218402;OTTHUMP00000218403;OTTHUMP00000218405;OTTHUMP00000218406;coiled-coil domain containing 4;coiled-coil domain-containing protein 4 protein-coding ENSG00000188848 23815 13481 VALIDATED 731845 BEGAIN brain-enriched guanylate kinase-associated 14 14 14 q32.2 81058597 81067990 - 100073240 100105884 - 101003484 101036131 - 6480464 16189514;18029348;17081983;16964243;16713569;15489334;12477932;10819331;12097487;9756850;21102462;21832049;20360068;21906983 57596 G3V2K4;G3V3A2;G3V3R5;G3V3S3;G3V536;G3V600;Q9BUH8 AB040879;ABBA01048525;ABBA01048526;AL390162;AL845552;AMYH01006010;BC002607;BG333264;CH471061;NM_001159531;NM_020836 AAH02607;ACE87027;ACE87713;BAA95970;CAB99094;EAW81707;EAW81708;NP_001153003;NP_065887;Q9BUH8 Hs.211751 1666246 STS-AA021302 KIAA1446 OTTHUMP00000246549;OTTHUMP00000246550;OTTHUMP00000246551;OTTHUMP00000246552;OTTHUMP00000246553;OTTHUMP00000246554;OTTHUMP00000246555;brain-enriched guanylate kinase-associated homolog;brain-enriched guanylate kinase-associated protein APPROVED protein-coding ENSG00000183092 24163 06459 VALIDATED 1321272 BEND6 BEN domain containing 6 6 6 6 p12.1 58482926 58555295 + 56927732 57000103 + 56819773 56892144 + 6480464 14702039;12477932 221336 Q5SZJ8;Q5SZK0 ABBA01050487;ABBA01050488;AI803591;AK054724;AK303705;AK315926;AL450489;AL590037;AMYH01016369;BC022988;BC036119;CH471081;DC411761;NM_152731 AAH22988;AAH36119;BAB70799;BAH14024;BAH14297;EAX04469;NP_689944;Q5SZJ8 Hs.582993 1672080;1679197;1685952;1743231;5092884 G11929;G32391;GDB:306287;RH67080;RH94322 C6orf65;FLJ30162;bA203B9.1 BEN domain-containing protein 6;OTTHUMP00000016659;OTTHUMP00000016661 protein-coding ENSG00000151917 20871 12893 VALIDATED 1606228 BEND5 BEN domain containing 5 1 1 1 p33 47479547 47528540 - 48966129 49015090 - 49193539 49242547 - 6480464 14702039;12477932;8889548;16189514;15489334;17207965;16169070;16713569;21832049 79656 Q7L4P6 ABBA01050796;AC097062;AK021650;AK055449;AMYH01000600;BC007932;BC011804;BQ006447;BU743157;CH471059;HI574312;NM_024603 AAH07932;AAH11804;ADQ32714;BAB13864;BAG51519;CBX47645;EAX06848;EAX06849;EAX06850;EAX06851;EAX06852;NP_078879;Q7L4P6 Hs.475348 1337883;1724773;1781452;2116701 D1S2724;RH122593;SHGC-112093;SHGC-74765 C1orf165;FLJ11588 BEN domain-containing protein 5;OTTHUMP00000009852 protein-coding 25668 VALIDATED 1313368 BEST2 bestrophin 2 This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 12753118 12758983 + 12724407 12730272 + 12863407 12869272 + 1580863;6480464 8125298;16912113;14702039;12907679;12477932;12032738;11904445;9700209;19237432;19398034;20157619;20407206;22360420 54831 H0YIH1;Q8NFU1 ABBA01029774;AC018761;AF440756;AK000139;AK225232;AMYH01009495;AY515705;CH471106;NM_017682 AAM76995;AAR99655;BAA90970;EAW84304;NP_060152;Q8NFU1 Hs.435611 FLJ20132;VMD2L1 OTTHUMP00000240705;OTTHUMP00000240706;VMD2-like gene 1;bestrophin-2;vitelliform macular dystrophy 2-like 1;vitelliform macular dystrophy 2-like protein 1 APPROVED protein-coding ENSG00000039987 17107 607335 REVIEWED 1314203 BEND7 BEN domain containing 7 10 10 10 p13 13407599 13472089 - 13520490 13584982 - 13480484 13544976 - 6480464 16189514;15489334;15164054;14702039;12477932;16385451;19060904;23382691 222389 E5RFC0;Q8N7W2 ABBA01034626;AK097602;AL359172;AL590677;AL832195;AMYH01002043;BC029597;BC031618;CH471072;NM_001100912;NM_152751 AAH31618;BAC05114;EAW86285;EAW86286;EAW86287;EAW86288;NP_001094382;NP_689964;Q8N7W2 Hs.498740 1666193;1668484;1704776;1704850;1755919;1763229;5014051;5015619;5022200 D11S3114;D8S2278;L18426;RH47609;SHGC-142750;SHGC-146959;SHGC-79854;SHGC-79899;STS-W15426 C10orf30;FLJ40283;MGC35247 BEN domain-containing protein 7;OTTHUMP00000019143;OTTHUMP00000019144 protein-coding ENSG00000165626 23514 12570 VALIDATED 1343861 BEVI baboon M7 virus integration site 628 1035 1344321 BEST4 bestrophin 4 This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene is predominantly expressed in the colon. [provided by RefSeq, Jul 2008] 1 1 1 p33-p32.3 43532138 43536307 - 45021844 45026013 - 45249257 45253426 - 1580863 16710414;16702355;15489334;12907679;12477932;12032738;9700209;19237432 266675 Q8NFU0 ABBA01050909;AF440757;AL592166;AMYH01000567;AY515707;BC101823;BM142321;CH471059;NM_153274 AAI01824;AAM76996;AAR99657;EAX07022;NP_695006;Q8NFU0 Hs.302513 MGC126872;VMD2L2 OTTHUMP00000010157;bestrophin-4;vitelliform macular dystrophy 2-like 2;vitelliform macular dystrophy 2-like protein 2 APPROVED protein-coding ENSG00000142959 17106 09549 607336 REVIEWED 1323228 BEST1 bestrophin 1 This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008] 11 11 q13 61474408 61488981 + 61717356 61731935 + 1599738;1580863;6480464;7240710 9662395 21330666;17003041;21192766;11050159;10737974;19597114;19398034;19375515;19372599;19357557;19262692;19029375;18849347;18766995;18414923;18400985;18222922;18179881;17698758;17646752;17591911;17468957;17361457;17287362;17110374;17065513;16885924;16769844;16754206;16707793;16612637;15808248;15556645;15489334;15452077;15176385;14982938;13129869;12907679;12477932;12324875;12187431;12107410;12058047;12032738;11913792;11904445;11449320;11271465;11241846;10854112;10798642;10766140;10682987;10453731;10394929;10331951;9700209;9679014;9445487;1395087;1302019;838599;22633354;21293734;21072067;18611979;19237432;19635817;19823864;19853238;20057903;20057343;20381869;20801516;20375334;22584882;20349192;20530484;20301346;21203346;21077756;21273940;21320969;20238019;21498618;21269699;21436265;22448417;21559412;21109774;21467170;22162627;21738390;21473666;21921978;22183384;22183385;22174098;23213274;23290749;22675492;22199244;22422030;21829377;20301590;21809908 7439 B7Z1N8;B7Z375;E9PMB5;G8JLA7;O76090 AB209451;ABBA01003208;AF057169;AF057170;AF073500;AF073501;AK289681;AK293701;AK294577;AK295450;AK295580;AK295838;AK295998;AK298747;AK301392;AK309076;AMYH01003685;AP003733;AY515704;BC015220;BC041664;CA388926;CH471076;JQ954696;NG_009033;NM_001139443;NM_004183 AAC33766;AAC64343;AAC64344;AAC64926;AAH15220;AAH41664;AAR99654;AFR11385;BAD92688;BAF82370;BAH11574;BAH11817;BAH12072;BAH12111;BAH12198;BAH12234;BAH12865;BAH13472;EAW73982;EAW73983;EAW73984;EAW73985;EAW73986;EAW73987;EAW73988;NP_001132915;NP_004174;O76090 Hs.524910;Hs.712676 1849750;1855697;2178702;5015861;5017170;5023353;5109281;5109777;5118576;7185938 D10S16;D11S3430;D11S3983;D1S1425;D1S2060E;D8S467;L29953;STS-L20941;WI-15952 ARB;BEST;BMD;RP50;TU15B;VMD2 Best disease;Best1V1Delta2;OTTHUMP00000235994;OTTHUMP00000235998;OTTHUMP00000235999;OTTHUMP00000236000;bestrophin-1;vitelliform macular dystrophy (best disease, bestrophin);vitelliform macular dystrophy protein 2 APPROVED protein-coding ENSG00000167995 12703 01094 153700;193220;607854;608161;611809;613194 REVIEWED 1313470 BEST3 bestrophin 3 BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008] 12 12 12 q14.2-q15 69711071 69756899 - 68333656 68379463 - 70047389 70093196 - 1580863;6480464 17442670;15489334;14702039;12907679;12477932;12032738;9700209;19237432;22863734 144453 E9PNM2;F8VR37;F8VVX2;F8VVZ2;F8VZR0;Q8N1M1 ABBA01026536;ABBA01026537;AC025263;AF440758;AK096459;AMYH01004567;AY515706;BC006440;BC028087;BC151138;CH471054;NM_032735;NM_152439 AAH06440;AAI66663;AAM76997;AAR99656;BAC04797;EAW97234;NP_116124;NP_689652;Q8N1M1 Hs.280782 1678521;1698504;1715433;2117248;2125860;2125862;2141358;2147038;2185018;5019807 A009W40;D12S1816;G32926;RH102802;RH120549;RH44577;RH44642;RH93788;SHGC-33073;SHGC-34028 MGC13168;MGC40411;VMD2L3 OTTHUMP00000195114;OTTHUMP00000233491;OTTHUMP00000240995;OTTHUMP00000240996;bestrophin-3;vitelliform macular dystrophy 2-like 3;vitelliform macular dystrophy 2-like protein 3 APPROVED protein-coding ENSG00000127325 17105 17484 607337 VALIDATED 1352390 BEX4 brain expressed, X-linked 4 This gene is a member of the brain expressed X-linked gene family. The proteins encoded by some of the other members of this family act as transcription elongation factors which allow RNA polymerase II to escape pausing during elongation. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011] X X X q22.1-q22.3 102909028 102911131 + 102356708 102358779 + 102470020 102472128 + 737633;1580863;6480464 12477932 15958283;15772651;14702039;21139048;21890473 56271 Q9NWD9 ABBA01021024;AI199874;AK000959;AL035494;AL544124;AMYH01022797;AV726729;AY833563;BC015794;BC068069;CH471190;NG_021339;NM_001080425;NM_001127688 AAI48485;AAI56671;AAX40681;BAA91443;EAW54719;NP_001073894;NP_001121160;Q9NWD9 Hs.184736 1690762;2115841 RH46879;RH80982 BEXL1;FLJ10097 BEX family member 4;BEX1-like protein 1;OTTHUMP00000023728;OTTHUMP00000023729;brain expressed X-linked-like 1;nerve growth factor receptor-associated protein 3;protein BEX4 APPROVED protein-coding ENSG00000102409 25475 300692 REVIEWED 1353223 BEX2 brain expressed X-linked 2 This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element and promotes transcription. This gene has been found to be a tumor suppressor that is silenced in human glioma. In breast cancer cells, this gene product modulates apoptosis in response to estrogen and tamoxifen, and enhances the anti-proliferative effect of tamoxifen. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X q22 103003273 103004973 - 102450930 102452601 - 102564274 102565974 - 737633;1580863;6480464 12477932 19412433;17638883;17251904;16818640;16314316;16189514;15958283;15772651;15489334;22698742;12054873;19711341;19835597;20482821;21384344;21890473;22053931;23022184 84707 Q9BXY8 ABBA01021037;AF251053;AK312085;AL133348;AMYH01022797;AY833560;BC015522;BC050651;BI670202;BU569325;BU596902;CB961647;CD365521;CH471190;CK001963;DB498563;NG_016254;NM_001168399;NM_001168400;NM_001168401;NM_032621;Z70233 AAH15522;AAK34943;AAX40678;BAG35021;CAD24039;EAW54715;EAW54716;NP_001161871;NP_001161872;NP_001161873;NP_116010;Q9BXY8 Hs.398989 2174623 WI-15922 BEX1;DJ79P11.1 OTTHUMP00000023734;OTTHUMP00000023735;OTTHUMP00000023736;brain-expressed X-linked protein 2;hBex2;protein BEX2 APPROVED protein-coding ENSG00000133134 30933 06484 300691 REVIEWED 1350233 BFLS Borjeson-Forssman-Lehmann syndrome 7240710 630 1039 301900 732892 BET1 Bet1 golgi vesicular membrane trafficking protein This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q21.1-q22 88319269 88331959 - 93458936 93471626 - 93621000 93633690 - 1580863;6480464 16189514;8621431;17081983;15489334;12853948;12690205;12477932;11323436;10449330;9847074;9382863;9094723;11927603;22773346;22939629;21139048;21890473;21906983;21987572;21963094;23251661 10282 C9JTT8;H7C1N3;O15155;Q53XK0;Q68DU7;Q96EA0 AACC02000014;ABBA01045786;AC006378;AF007551;AK313984;AMYH01017695;BC000899;BC012595;BG721261;BT009853;BX505568;CH236949;CH471091;CR749267;NM_005868 AAB62941;AAD47132;AAH00899;AAH12595;AAP88855;ABM85004;BAG36696;CAH18123;EAL24137;EAW76800;EAW76801;EAW76802;EAW76803;NP_005859;O15155 Hs.489132 1671695;1713659;2114528;2133757;2185115;5022578;5022651;5037552 A004G30;D11S2921;D1S1423;D8S2279;G30358;RH120712;RH18332;RH78705 DKFZp781C0425;HBET1 BET1 homolog;Bet1p homolog;Golgi vesicular membrane trafficking protein p18;OTTHUMP00000163010;OTTHUMP00000208603;OTTHUMP00000208604;OTTHUMP00000208605;OTTHUMP00000208606;blocked early in transport 1 homolog;golgi vesicular membrane-trafficking protein p18 APPROVED protein-coding 14562 16107 605456 REVIEWED 1348519 BEX5 brain expressed, X-linked 5 X X X q22.1 101929239 101931548 - 101295340 101297685 - 101408679 101410986 - 737633;6480464 12477932 18236150;15958283;15772651;15489334 340542 Q5H9J7 ABBA01045059;AI985090;AMYH01022737;AY833564;BC042818;BC092450;BC106955;CH471115;NM_001012978;NM_001159560;Z70719 AAH42818;AAH92450;AAI06956;AAX40682;EAX02903;NP_001012996;NP_001153032;Q5H9J7 Hs.47209 1648127 SHGC-37409 MGC104434;MGC126446;NGFRAP1L1 BEX family member 5;NGFRAP1-like 1;NGFRAP1-like protein 1;OTTHUMP00000023705;brain-expressed X-linked protein 5;nerve growth factor receptor-associated protein 2;protein BEX5 protein-coding ENSG00000184515 27990 18484 300693 VALIDATED 1343764 BEX1 brain expressed, X-linked 1 X X X q22.1 102756620 102758207 - 102204237 102205824 - 102317581 102319168 - 1580863;6480464 19028701;16818640;15958283;15920485;15772651;15489334;12477932;11989783;12054873;12911636;16498402;16314316;21900206 55859 Q9HBH7 ABBA01021002;AF183416;AF220189;AF237783;AK290958;AL008708;AMYH01022795;AMYH01022796;AY833561;BC018615;BC105298;BC126427;BC126429;BM465948;BX098763;CH471190;NM_018476 AAF67654;AAG09685;AAG09752;AAI26428;AAI26430;AAX40679;ADR83467;BAF83647;EAW54723;NP_060946;Q9HBH7 Hs.334370 2171059;5123915;5493829 RH18267;UniSTS:495179;WI-11354 BEX2;HBEX2;HGR74-h OTTHUMP00000024309;brain-expressed X-linked protein 1;ovarian granulosa cell 13.0 kDa protein hGR74;protein BEX1 protein-coding ENSG00000133169 1036 06460 300690 VALIDATED 1342888 BET3L BET3 like (S. cerevisiae) 6 6 6 q22.1 117560713 117609844 - 116924445 116973466 - 116817646 116866773 - 15489334;14702039;14574404;12477932;20379614;21525244 100128327 Q5T215 ABBA01026045;ABBA01026046;AI090359;AI745276;AK002042;AL121953;AL445224;AMYH01016617;BC127757;BC127758;BE501784;BX280366;DY655209;NM_001139444 AAI27758;AAI27759;NP_001132916;Q5T215 Hs.134795 1685057;2126919 RH94021;SHGC-54632 FLJ11180;TRAPPC3L;bA259P20.2 BET3-like protein;OTTHUMP00000017064;OTTHUMP00000040368;TRAPPC3-like protein;trafficking protein particle complex subunit 3-like protein protein-coding ENSG00000173626 21090 614137 VALIDATED 1602713 BET1L Bet1 golgi vesicular membrane trafficking protein-like 11 11 11 p15.5 351440 355953 + 192924 197422 - 202924 207422 - 6480464 15215310;16344560;15489334;15004235;14702039;12477932;12388752;11927603;11323436;11181995;11042152;9242691;9110174;8619474;21460842;19820697;21832049;18029348;21906983;22286173;22318606;21963094;21988832;22504420 51272 B8ZZS0;E9PHY4;E9PQJ6;H7BXT7;Q9NYM9 ABBA01011167;AC069287;AF151031;AF234160;AK022958;AK314273;AL833842;AMYH01003275;AY007148;BC000688;BC008971;BC016945;BC018839;BC032779;BC064025;CH471278;DA875317;DA880679;NM_001098787;NM_016526 AAF36117;AAF37877;AAG02004;AAH08971;AAH32779;ACE86980;ACE87669;BAG51142;NP_001092257;NP_057610;Q9NYM9 Hs.414418 2117080 RH16003 BET1L1;GOLIM3;GS15;HSPC197 BET1-like protein;GOS-15;OTTHUMP00000147612;OTTHUMP00000147613;OTTHUMP00000228523;OTTHUMP00000228524;OTTHUMP00000228525;blocked early in transport 1 homolog (S. cerevisiae)-like;blocked early in transport 1 homolog-like;golgi SNARE 15 kDa protein;golgi SNARE with a size of 15 kDa;golgi integral membrane protein 3;vesicle transport protein GOS15 APPROVED protein-coding ENSG00000177951 19348 16547 VALIDATED 2302834 BHLHA9 basic helix-loop-helix family, member a9 17 17 17 p13.3 1187225 1187932 + 1120101 1121382 + 1173858 1174565 + 22147889;18557763;14516699;12617822;23035971 727857 Q7RTU4 ABBA01054652;ABBA01054653;AC032044;AC144836;AMYH01007990;BK000140;NM_001164405 DAA00302;NP_001157877;Q7RTU4 Hs.723790 BHLHF42 OTTHUMP00000163050;class A basic helix-loop-helix protein 9;class F basic helix-loop-helix factor 42;class II basic helix-loop-helix protein protein-coding 35126 PROVISIONAL 737302 BFSP1 beaded filament structural protein 1, filensin This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 p12.1 17422550 17459974 - 17474550 17539605 - 1580863;6480464;7240710 9628810;17225135;12477932;11780052;10909854;9787085;7781747;7720401;7679620;7615661;7504675;1918147;1478967;21145461;18029348 631 B7Z999;F5H0G1;Q12934 ABBA01054022;ABBA01054023;ABBA01054024;AC010083;AF039655;AK304673;AK316247;AL031664;AL132765;AMYH01011737;BC041483;BF727338;BQ230198;CH471133;NG_012423;NM_001161705;NM_001195;NM_001278606;NM_001278607;NM_001278608;U12622;Y16717;Y16718;Y16723 AAA74423;AAB94939;AAH41483;BAH14235;BAH14618;CAA76348;CAA76349;EAX10277;EAX10278;NP_001155177;NP_001186;NP_001265535;NP_001265536;NP_001265537;Q12934 Hs.129702 CP115;CP94;CTRCT33;LIFL-H OTTHUMP00000030329;OTTHUMP00000062713;beaded filament structural protein 1;cytoskeletal protein, 115 KD;filensin;lens fiber cell beaded-filament structural protein CP 115;lens intermediate filament-like heavy APPROVED protein-coding ENSG00000125864 1040 04494 603307;611391 REVIEWED 619567 BGLAP bone gamma-carboxyglutamate (gla) protein 1 1 q22 154478629 154479736 + 156211951 156213123 + 1580863;2316184;6480464;6483581;6483557;6483566;6483579;6483580;6483549;6483561;6483542;6484113;6483568;6483578;6483546;6483593;6483595;6483600;6483321;6483563;6483594;6483599;6483552;7207412;7207422;7207408;7207232;7207414;7207224;7207424;7207225;7205481;7207229;7207235;7207248;7207410;7207231;7207409;7207419 19494718;2106357;7920889;20197689;15108065;12565780;21406003;3105848;22120694;16622660;21482072;22447331;21387139;3488088;22535626;22294259;21760737;20157712;21550389;12674322;9661594;21908029;21041817;12376805;16114020;9347246;12697366;22989431;22573557;20845051;19641839;15747054;21784896;17365904;9850345 22034088;17252541;17242729;17000892;16735944;16412323;16387359;16263577;15753298;15562030;15502821;15108070;12879219;12843190;12674332;12477932;12393937;12270142;12145306;12112004;11979972;11918225;11574953;11396736;11199188;10419538;10393081;9076588;7768973;6967872;3019668;10486212;12467198;12202187;11856645;17023519;10865224;19453261;19136823;19088165;18657532;18551993;18496130;18321663;18285546;18171674;18163903;17889845;17627084;17254772;21169728;21713451;2785029;2394711;2336375;15949438;20395593;21301010;20501596;19063687;19732762;19751416;19751417;19767102;19856264;19877133;20200947;20305683;20355242;20410230;20433876;19595020;20221651;20831864;20587710;20139978;20592451;20574675;19031822;21333348;21425331;20694489;21427224;20577791;20562864;22842327;22517558;22773701;21292339;21353261;21558934;20625700;21178793;21153019;21521304;21521333;21590731;22068385;22615158;21487672;22068892;22102412;21964930;22652825;21968268;21935388;21944272;22219025;22679141;23135318;23553865;23162093;22577088;22735266;18160010;22136751;22752126;23261860;23386651;23137636 632 P02818 ABBA01016665;AL135927;AMYH01001436;BC113432;BC113434;BU622466;CA428336;CH471121;CS025626;CS185557;DQ007079;HD117875;HH735900;NM_199173;X04143;X51699;X53698 AAI13433;AAI13435;AAY16981;ADR82791;CAA27763;CAA35996;CAA37736;CAI61690;CAJ42738;CBW53724;CBX74359;EAW52986;NP_954642;P02818 Hs.654541 1794720;1857036;2113674;2120254;2127136;2150829;5493377 A003B36;AB055289;PMC351321P3;RH11125;RH12024;STS-X04143;UniSTS:485876 BGP;OC;OCN;PMF1 OTTHUMP00000016586;bone Gla protein;bone gamma-carboxyglutamate (gla) protein (osteocalcin);gamma-carboxyglutamic acid-containing protein;osteocalcin protein-coding 1043 00205 112260 VALIDATED 1312438 BFAR bifunctional apoptosis regulator 16 16 16 p13.12 14903443 14939870 + 14634297 14670209 + 14726668 14763093 + 1580863;6480464 10716992;18805781;15489334;14502241;12477932;22566094;19549727;19690564;20523265;21068390;21890473;21906983 51283 B4DUT0;H3BMP2;H3BMY8;H3BPQ8;H3BRQ5;H3BSU2;H3BTG6;H3BUB3;Q9NZS9 ABBA01006895;ABBA01006896;AC009167;AF173003;AK291114;AK297067;AK300778;AK313890;AMYH01007181;BC003054;BI912683;BU621058;CH471112;NM_016561 AAF59975;AAH03054;ABM81574;ABM84754;BAF83803;BAG36613;BAG59588;BAG62442;EAW85105;EAW85106;EAW85107;EAW85108;EAW85109;NP_057645;Q9NZS9 Hs.435556 2120376;2128057;2143871;2164606 D16S2565E;RH48705;SHGC-61074;STS-M78938 BAR;RNF47 OTTHUMP00000160285;RING finger protein 47;bifunctional apoptosis inhibitor;bifunctional apoptosis regulator protein-coding ENSG00000103429 17613 16548 VALIDATED 1347093 BFSP2 beaded filament structural protein 2, phakinin More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009] 3 3 q22.1 134601480 134676746 + 133118790 133194056 + 1600516;1580863;6480464;7240710 10729115 9628810;18958306;17982427;17200662;15570218;15489334;12477932;10753642;10739768;8889548;8636093;7720401;7504675;18029348;21836522 8419 Q13515 ABBA01059169;ABBA01059170;ABBA01059171;ABBA01059172;AC022296;AC055753;AF195044;AMYH01013509;AMYH01013510;BC113518;BC113520;BM667774;BM696370;CH471052;GN344037;NG_012425;NM_003571;U12621;U48224 AAC50414;AAG30728;AAI13519;AAI13521;ADR83175;CAY55954;EAW79178;EAW79179;NP_003562;Q13515 Hs.659862 1725389;1727413;2148762;2154950 G63114;RH119012;RH70648;STS-N29638 CP47;CP49;CTRCT12;LIFL-L;MGC142078;MGC142080;PHAKOSIN 49 kDa cytoskeletal protein;OTTHUMP00000216298;beaded filament protein CP49;bfps2, Cytoskeletal protein, 49-kD;lens fiber cell beaded filament protein CP 47;lens fiber cell beaded filament protein CP 49;lens intermediate filament-like light;phakinin APPROVED protein-coding ENSG00000170819 1041 04444 603212;611597 REVIEWED 6908992 BHLHE40-AS1 BHLHE40 antisense RNA 1 3 p26 4939910 4948186 - 14702039 100507582 ABBA01020465;ABBA01020466;AC018816;AK056892;AK311159;AK311646;AMYH01012948;NR_037903 Hs.434505 5020948;5022200;5022588 D5S1597E;G35510;L18426 miscrna ENSG00000235831 44471 VALIDATED 737550 BHLHA15 basic helix-loop-helix family, member a15 7 7 7 q21.3 92535465 92536170 + 97679502 97680207 + 97841566 97842271 + 6480464;6907045 18557763;16645041;15489334;14516699;12853948;12690205;12617822;12477932;9482738;9073453;20038531;20382342;20709804;21098683;21907708;22354994;22374815;22495370 168620 Q7RTS1 AACC02000085;ABBA01045734;AC091654;AMYH01017711;BC113394;BC113396;BK000276;CH236956;NM_177455 AAI13395;AAI13397;DAA01056;EAL23893;NP_803238;Q7RTS1 Hs.674510 5493017 UniSTS:483772 BHLHB8;MIST1 MIST-1;OTTHUMP00000205455;basic helix-loop-helix domain containing, class B, 8;class A basic helix-loop-helix protein 15;class B basic helix-loop-helix protein 8;class II bHLH protein MIST1;muscle, intestine and stomach expression 1 protein-coding ENSG00000180535 22265 16356 608606 VALIDATED 1346145 BHLHE23 basic helix-loop-helix family, member e23 This gene encodes a member of the basic helix-loop-helix transcription factor family. Members of this family contain two highly conserved and functionally distinct domains: the basic domain targets sequence-specific DNA binding, while the helix-loop-helix domain facilitates protein interaction. Studies of a related gene in mouse suggest that the encoded protein may function as a transcriptional repressor in the pancreas and brain, and that it is required for normal retinal function. [provided by RefSeq, May 2013] 20 20 20 q13.33 58313980 58315036 - 61107846 61108787 - 61637331 61638387 - 14516699;18557763;12617822;12477932;12136098;11863370;11780052;15363390 128408 Q8NDY6 ABBA01021378;AJ328944;AL121673;AMYH01012069;BC137288;BC137308;BK000274;CH471077;NM_080606 AAI37289;AAI37309;DAA01054;EAW75311;EAW75312;NP_542173;Q8NDY6 Hs.551230 BETA4;BHLHB4;bA305P22.3 OTTHUMP00000031526;basic helix-loop-helix domain containing, class B, 4;class B basic helix-loop-helix protein 4;class E basic helix-loop-helix protein 23 APPROVED protein-coding ENSG00000125533 16093 16550 609331 REVIEWED 1313486 BHLHE22 basic helix-loop-helix family, member e22 BHLHE22 belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. These proteins function as dimers and bind to an E-box DNA sequence (CANNTG). BHLHE22 is expressed exclusively in the central nervous system and retina (Xu et al., 2002 [PubMed 12213201]).[supplied by OMIM, Jul 2010] 8 8 8 q13 61482821 61486193 + 65655368 65658740 + 65492795 65496191 + 1580863;6480464 18557763;14702039;14516699;12617822;12477932;12213201;9225980 27319 B4DF88;Q8NFJ8 AA927689;ABBA01041852;AC090136;AF504925;AI867692;AI968349;AK091333;AK293979;AMYH01018764;AW206610;BC033056;BC045748;BK000273;CH471068;NM_152414 AAI56672;AAM28881;BAG57349;DAA01053;EAW86876;NP_689627;Q8NFJ8 Hs.388788;Hs.591870;Hs.743680 1739361;1797322;2177326;2177328;2177330;5493801 BHLHB5_2248;D8S1572E;RH47310;RH77917;RH77918;UniSTS:494896 BHLHB5;Beta3;CAGL85;TNRC20 OTTHUMP00000226588;basic helix-loop-helix domain containing, class B, 5;class B basic helix-loop-helix protein 5;class E basic helix-loop-helix protein 22;trinucleotide repeat containing 20;trinucleotide repeat-containing gene 20 protein APPROVED protein-coding ENSG00000180828 11963 16551 613483 VALIDATED 1347976 BHLHB9 basic helix-loop-helix domain containing, class B, 9 This gene is a member of a gene family which encodes proteins with a basic helix-loop-helix domain. Other members of this gene family encode proteins which function as transcription factors, either enhancing or inhibiting transcription depending on the activity of other DNA binding proteins. The coding region of this gene is located entirely within the terminal exon. The encoded protein may be involved in the survival of neurons (PMID: 15034937). Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011] X X X q23 102414680 102446406 + 101862310 101894024 + 101975642 102007369 + 1303981;1580863;6480464 15034937 16344560;12477932;11214970;9110174;8619474;21832049;21139048;21890473 80823 Q6PI77 AB051488;ABBA01020964;ABBA01020965;ABBA01020966;ABBA01020967;ABBA01020968;AF035288;AF547055;AL035427;AMYH01022792;BC041409;CH471190;DA104939;DA211842;DA218716;DA326404;DA397309;DA398982;DA494496;DA718424;NG_021340;NM_001142524;NM_001142525;NM_001142526;NM_001142527;NM_001142528;NM_001142529;NM_001142530;NM_030639 AAH41409;AAQ12077;BAB21792;EAW54726;NP_001135996;NP_001135997;NP_001135998;NP_001135999;NP_001136000;NP_001136001;NP_001136002;NP_085142;Q6PI77 Hs.4276 1659996;1682618;1787252;2184264;5016851 A008N06;DXS7007E;RH78520;RH80031;SHGC-143390 KIAA1701;p60TRP OTTHUMP00000023715;OTTHUMP00000023716;p60-like protein;protein BHLHb9;transcription regulator of 60 kDa APPROVED protein-coding ENSG00000198908 29353 10028 REVIEWED 737524 BGN biglycan The protein encoded by this gene is a small cellular or pericellular matrix proteoglycan that is closely related in structure to two other small proteoglycans, decorin and fibromodulin. The encoded protein and decorin are thought to be the result of a gene duplication. Decorin contains one attached glycosaminoglycan chain, while this protein probably contains two chains. For this reason, this protein is called biglycan. This protein plays a role in assembly of collagen fibrils and muscle regeneration. It interacts with several proteins involved in muscular dystrophy, including alpha-dystroglycan, alpha- and gamma-sarcoglycan and collagen VI, and it is critical for the assembly of the dystrophin-associated protein complex. [provided by RefSeq, Nov 2009] X X q28 152413605 152428198 + 152760347 152775004 + 1580863;6480464 1860845;11256614;19453261;18988796;18620607;18602826;18029348;17516017;17269742;17120779;17097211;16989735;16938379;16883602;16807372;16434404;16381901;16344560;16051607;15775969;15546867;15489336;15489334;15372625;15173106;15031262;14702039;12538652;12477932;12387878;12354766;12153565;12140283;12070165;11979972;11723132;11709279;11598131;11259413;11145944;11076863;10854409;10684260;10383378;9880804;9848887;9731537;8440685;8178833;8125298;8093671;8093006;7881444;7852349;7793988;7607653;3597437;2647739;2590169;2059554;1968422;1612609;23007878;18621549;18694824;18701807;19379665;19422643;19502413;19523462;19580379;20382708;20591478;20367117;21397694;22982459;21029365;21969569;21998129;21702857;21185747;22329809;23393390;22374465;21913799;22582394;2212616;22095710;22479366;21879307 633 A6NLG9;C9JKG1;P21810 ABBA01045388;AI538325;AI570205;AK092954;AK093023;AK094059;AK222484;AK223302;AK291955;AK293268;AK293289;AK297966;AK298756;AMYH01023294;AU142113;BC002416;BC004244;BT007323;CH471172;DC299956;DC419932;DC425011;J04599;M65151;M65153;NG_015961;NM_001711;U11686;U82695 AAA36009;AAA52287;AAC50117;AAH02416;AAH04244;AAP35987;ABM82824;ABM86010;BAC04007;BAD96204;BAD97022;BAF84644;BAG52637;BAG52806;BAG56798;BAG56813;BAG60276;BAG60898;CAL37481;CAL38559;EAW72861;EAW72862;EAW72863;EAW72864;EAW72865;NP_001702;P21810 Hs.821 1686740;1702710;1725625;2144807;2152487;2166135;5016946 DXS9901;G28556;G62027;GDB:192507;RH75559;RH91107;STS-M65154 DSPG1;PG-S1;PGI;SLRR1A OTTHUMP00000025928;OTTHUMP00000025930;biglycan;biglycan proteoglycan;bone/cartilage proteoglycan I;bone/cartilage proteoglycan-I;dermatan sulphate proteoglycan I;small leucine-rich protein 1A APPROVED protein-coding ENSG00000182492 1044 02359 301870 REVIEWED 1316665 BICC1 bicaudal C homolog 1 (Drosophila) This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009] 10 10 10 q21.1 53537852 53853737 + 59942910 60258851 + 60272904 60588845 + 6480464 15465627;14702039;11231089;8889548;8125298;16385451;20379614;20516156;21922595;23251661;23322567;23396134 80114 A6NGY7;Q9H694 ABBA01019441;ABBA01019442;ABBA01019443;AC012168;AC012472;AC023170;AK026129;AK225427;AK225429;AK307780;AMYH01002766;AY726586;BM972104;BX538102;CF242850;CH471083;NG_029759;NM_001080512 AAI56901;BAB15369;EAW54176;NP_001073981;Q9H694 Hs.158745 1705556;1779114;1850061;1856757;2172504;2180925 D10S1581;G17501;RH77835;SHGC-37463;SHGC-83883;WI-18264 BICC;CYSRD;DKFZp686I21119 OTTHUMP00000019636;bic-C;protein bicaudal C homolog 1 APPROVED protein-coding 19351 601331;614295 REVIEWED 731061 BHLHE41 basic helix-loop-helix family, member e41 This gene encodes a transcription factor that belongs to the Hairy/Enhancer of Split subfamily of basic helix-loop-helix factors. The encoded protein functions as a transcriptional repressor and as a regulator of molecular clock. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, May 2010] 12 12 p12.1 26164226 26169113 - 26272959 26278003 - 625726;1580863;6480464;6484113 12397359 12624110;11162494;19679812;18557763;18411297;18345027;18228528;18223678;17194498;16287852;12657651;12477932;12354771;11278948;11058868;19913121;20628086;15193144;19839995;20072116;20174623;19029947;17487425;21129405;20821348;21327324;14672706;15560782;19786558;22801492;22572381;21693764;22355045 79365 Q8TAT1;Q9C0J9 AB044088;ABBA01068030;ABBA01068031;AC022509;AJ270695;AK303677;AMYH01004346;AW500664;AY665466;AY665467;BC025968;CH471094;EF015896;NG_012011;NG_021173;NM_030762 AAH25968;AAV54601;AAV54602;ABM64207;BAB21502;BAH14012;EAW96527;EAW96528;NP_110389;Q9C0J9 Hs.177841 1651384;1680851;1699592;1797320 BHLHB3_2085;RH103397;RH80435;STS-R68240 BHLHB3;DEC2;SHARP-1;SHARP1;hDEC2 OTTHUMP00000240318;basic helix-loop-helix domain containing, class B, 3;class E basic helix-loop-helix protein 41;differentially expressed in chondrocytes 2;differentially expressed in chondrocytes protein 2;enhancer-of-split and hairy-related protein 1 APPROVED protein-coding ENSG00000123095 16617 16204 606200;612975 REVIEWED 68659 BHLHE40 basic helix-loop-helix family, member e40 This gene encodes a basic helix-loop-helix protein expressed in various tissues. Expression in the chondrocytes is responsive to the addition of Bt2cAMP. The encoded protein is believed to be involved in the control of cell differentiation. [provided by RefSeq, Aug 2008] 3 3 p26 4996208 5001861 + 5021097 5026866 + 625726;1580863;6480464;6484113 12397359 11278694;9240428;18557763;18228528;17376295;16878149;16487626;16344560;16169070;15994878;15719173;17487425;15560782;15489334;15223310;12754744;12624110;12477932;12384505;12354771;12297495;12119049;11688991;11668339;11226878;10449910;20936779;15193144;16136500;16462771;18025081;18345027;18411297;19590847;19693801;20072116;20174623;21528084;18029348;20863812;19913121;20628086;21867633;21829689;21327324;19471022;21693764;21906983;21963094;21987572;21979947;19786558;19322201;14672706;21988832;10737769;17347673;23445622;22678901;22905217 8553 O14503;Q6IB83 AA632164;AB004066;AB043885;ABBA01020463;AC090955;AK293205;AK309173;AK312509;AMYH01012951;BC068292;BC082238;BI962730;CH471055;CR456921;DB144350;EF015895;HI574236;NM_003670 AAH82238;ABM64206;ABZ92197;BAA21720;BAB18565;BAG35410;BAG56745;CAG33202;CBX47607;EAW63916;EAW63917;NP_003661;O14503 Hs.744856 1664307;1735262;1770912;1797318 BHLHB2_2101;D3S2920E;D3S3912;SHGC-37025 BHLHB2;DEC1;FLJ99214;HLHB2;SHARP-2;STRA13;Stra14 OTTHUMP00000147574;basic helix-loop-helix domain containing, class B, 2;basic helix-loop-helix domain containing, class b2;class B basic helix-loop-helix protein 2;class E basic helix-loop-helix protein 40;differentially expressed in chondrocytes 1;differentially expressed in chondrocytes protein 1;differentiated embryo chondrocyte expressed gene 1;enhancer-of-split and hairy-related protein 2;stimulated by retinoic acid gene 13 protein APPROVED protein-coding ENSG00000134107 1046 16050 604256 REVIEWED 1352435 BHMT2 betaine--homocysteine S-methyltransferase 2 Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 5 5 5 q13 74258430 74278792 + 78401339 78421045 + 78365547 78385897 + 1580863;6480464 18457970;19493349;19161160;19048631;18635682;18427977;18230605;15489334;14702039;12818402;12477932;11087663;19913121;20628086;20634891;20662904;19737740;19948975;20458436;16712791;21832049;21564312;23378610 23743 E5RGH5;E5RH96;Q9H2M3 ABBA01062002;AC008502;AC020937;AF257473;AK000008;AK298298;AK315520;AMYH01015437;BC020665;CB140104;CH471084;NG_029157;NM_001178005;NM_017614 AAG41356;AAH20665;ABM82296;ABM85476;BAA90880;BAG37901;BAH12752;EAW95827;EAW95828;EAW95829;EAW95830;NP_001171476;NP_060084;Q9H2M3 Hs.114172 1697742;2109083;2129883;5015961;5016478;5022322;5022578;5109281 BHMT2_9396;D11S2560;D15S1477;D1S1423;D1S1425;GDB:434012;RH102393;RH46927 FLJ20001 OTTHUMP00000135298;OTTHUMP00000222849;S-methylmethionine--homocysteine S-methyltransferase BHMT2;SMM-hcy methyltransferase;betaine--homocysteine S-methyltransferase 2;betaine-homocysteine methyltransferase 2 APPROVED protein-coding 1048 12069 605932 REVIEWED 1319790 BICD1 bicaudal D homolog 1 (Drosophila) This gene is one of two human homologs of Drosophila bicaudal-D. It has been implicated in COPI-independent membrane transport from the Golgi apparatus to the endoplasmic reticulum. Two alternative splice variants have been described. Other alternative splice variants that encode different protein isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 12 12 p11.2-p11.1 32151452 32422408 + 32260185 32531141 + 6480464 9367685;19010793;18487243;17707369;17139249;17101644;16473624;16344560;16320833;15489334;14702039;12892780;12522145;12477932;12447383;12401177;8530100;19596235;19851299;20080650;20164183;20379614;19825938;20686608;20709820;17043677;21988832;23251661 636 A8MVZ6;F8VZX7;F8W056;Q96G01 AA207154;AA249429;ABBA01031717;ABBA01031718;ABBA01031719;ABBA01031720;ABBA01031721;ABBA01031722;ABBA01031723;ABBA01031724;ABBA01031725;ABBA01031726;ABBA01031727;AC016954;AC026356;AC048344;AC087245;AC087316;AK095648;AK290188;AK313430;AMYH01004370;AMYH01004371;AU132680;BC010091;BC136372;CH471116;NM_001003398;NM_001714;U90028;U90030 AAB94805;AAB94806;AAI36373;BAF82877;EAW88532;EAW88533;EAW88534;NP_001003398;NP_001705;Q96G01 Hs.505202 1644885;1681133;1684371;1689474;1714841;1733582;1733608;1754739;2107893;2129681;2155880;2156018;2174452;2179659;5494118 BICD1_8231;D12S1308;D12S911;D12S934;D20S431;RH120415;RH66618;RH92916;RH93400;RH94291;SHGC-133101;SHGC-64856;STS-AA018216;WI-5606;fj02h10.x1 BICD OTTHUMP00000240725;OTTHUMP00000240726;OTTHUMP00000240727;bic-D 1;cytoskeleton-like bicaudal D protein homolog 1;protein bicaudal D homolog 1 APPROVED protein-coding ENSG00000151746 1049 03730 602204 REVIEWED 5686997 BIN2P1 bridging integrator 2 pseudogene 1 4 q21.22 83196002 83197953 + 345258 ABBA01063426;AC116631;AMYH01014351;NG_022065 1696968 RH101956 pseudo 43660 INFERRED 5686996 BIN2P2 bridging integrator 2 pseudogene 2 5 q13.3 75206381 75207693 + 644601 ABBA01061948;AC108120;AMYH01015413;NG_021885 1757915 SHGC-146848 pseudo 43661 INFERRED 1346951 BHMT betaine--homocysteine S-methyltransferase This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008] 5 5 q14.1 78443360 78463869 + 78407604 78428113 + 1580863;6480464;6907045;7242425;7242426;7242428 23073625;20814827;20346934 10075673;8798461;19336437;19161160;19048631;18988749;18830263;18708404;18676680;18635682;18498552;18457970;18427977;18230680;18262489;17993766;17705221;17436311;17376725;17119116;17035141;16953798;16816108;16344560;16189514;15489334;15122900;12818402;12749058;12477932;12475213;12220488;12071701;11883905;11516176;11223523;10529246;9681996;9281325;8889548;1657504;19170196;19493349;19625176;19635752;19683694;19692168;19737740;19777601;19936946;19948975;20031554;20346360;20453000;20458436;20662904;20737570;19913121;20628086;20634891;20664391;21564312;21349258;21093336;21565678;18029348;21630102;22138536;22339686;22339736;18000879;21988832;23378610 635 E5RJH0;Q93088 ABBA01062002;ABBA01062003;ABBA01062004;AC008502;AF118371;AF118372;AF118373;AF118374;AF118375;AF118376;AF118377;AF118378;AK298308;AK303780;AK315224;AMYH01015437;AY325901;BC012616;BM678994;CH471084;DA370221;NG_029156;NM_001713;U50929 AAC50668;AAD22043;AAH12616;AAQ90058;BAG37653;BAG60562;BAG64739;EAW95831;EAW95832;NP_001704;Q93088 Hs.80756 1656439;1658462;1671780;1684940;1687548;1773092;2158259;2218308 BHMT_54.2;RH16250;RH35961;RH80672;RH91498;SGC33609;SHGC-33971;SHGC-56646 BHMT1 OTTHUMP00000135297;betaine homocysteine methyltransferase;betaine--homocysteine S-methyltransferase 1;betaine-homocysteine methyltransferase APPROVED protein-coding ENSG00000145692 1047 04200 602888 REVIEWED 1352041 BICD2 bicaudal D homolog 2 (Drosophila) This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. [provided by RefSeq, Jul 2008] 9 9 9 q22.31 65915700 65969136 - 94513466 94566904 - 95473645 95527083 - 6480464 16473624;17081983;16964243;15592455;15489334;15302935;15164053;15144186;14609947;12477932;12447383;12401177;11864968;11483508;9734811;16417406;23097494;18029348;17139249;19596235;19615732;21139048;20360068;22589738;22190034;23455922 23299 Q8TD16;Q96FU2 AB014599;ABBA01018592;ABBA01018593;ABBA01018594;AL136981;AL137074;AMYH01021510;AY052562;BC004296;BC010428;BC073970;CH471089;NM_001003800;NM_015250 AAH04296;AAH10428;AAH73970;AAL12246;BAA31674;EAW62829;NP_001003800;NP_056065;Q8TD16 Hs.436939 1650891;1662827;1662829;1668594;1677422;1746009;2109085 A002D08;BICD2_9337;G06234;G19949;RH121891;RH91165;WI-17979 KIAA0699;SMALED2;bA526D8.1 OTTHUMP00000022790;OTTHUMP00000022791;bic-D 2;coiled-coil protein BICD2;cytoskeleton-like bicaudal D protein homolog 2;homolog of Drosophila bicaudal D;protein bicaudal D homolog 2 APPROVED protein-coding ENSG00000185963 17208 09826 609797;615290 REVIEWED 1347683 BIK BCL2-interacting killer (apoptosis-inducing) The protein encoded by this gene shares a critical BH3 domain with other death-promoting proteins, such as BID, BAK, BAD and BAX, that is required for its pro-apoptotic activity, and for interaction with anti-apoptotic members of the BCL2 family, and viral survival-promoting proteins. Since the activity of this protein is suppressed in the presence of survival-promoting proteins, it is suggested as a likely target for anti-apoptotic proteins. [provided by RefSeq, Sep 2011] 22 22 q13.31 41836701 41855662 + 43506754 43525718 + 1580863;2314029;6480464 19641503 17714764;17574210;17047080;17027756;16060964;15824729;15809295;15791210;15767553;15731089;15489334;15461802;14983013;12874789;12853473;12477932;11884414;11782349;11375329;11342619;10974546;10591208;10500065;10381646;9525867;9463381;8816500;15694340;16697956;7478623;10381623;18636124;18519826;18299962;8521816;16189514;15721256;9130713;9488477;19632297;19641504;19767753;19898928;20379614;20855536;16341674;19913121;20564319;20628086;21832049;22288719;22873408;21063407;21613222;21622563;15342556;21906983;22139380;21743057;22795130;22855140;21988832;22388352;17289999 638 Q13323 ABBA01017908;ABBA01017909;AF174424;AL022237;AMYH01012826;AY245248;BC001599;BM765910;BP329261;BT006728;CH471138;CR456390;CR541863;CR541883;NM_001197;U34584;U49730 AAC50413;AAC79124;AAF01156;AAH01599;AAO61089;AAP35374;ABM84664;ABM84671;ABM92195;CAA18260;CAG30276;CAG46661;CAG46681;CAK54379;CAK54678;EAW73282;EAW73283;EAW73284;NP_001188;Q13323 Hs.475055 1298134;1298166;1298206;2108709 BIK_7754;D6S1017;D6S1021;D6S1031 BIP1;BP4;NBK OTTHUMP00000198290;apoptosis inducer NBK;apoptosis-inducing NBK;bcl-2-interacting killer APPROVED protein-coding ENSG00000100290 1051 04547 603392 REVIEWED 1346183 BID BH3 interacting domain death agonist This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008] 22 22 q11.1 16596906 16637258 - 18216906 18257431 - 1580863;2313998;2314029;2314002;2317560;2317561;2317562;4143170;4143196;4143171;6480464;6484113;6907045 18931364;19641503;18090083;15943879;19940077;19888517;17403612;19239902;19961901 11085743;22189507;22416135;22939629;23019260;8918887;15231831;9727491;11099414;11114298;12804595;9727492;10950869;12624108;19454696;19423537;19246452;19233849;19219602;19074885;19052714;18925930;18838202;18665919;18648372;18593990;18469004;18373075;18317451;18297401;18195012;18173728;18166654;18165867;17052454;10629050;18089817;17855051;17765974;17762183;17666167;17635912;17549073;17534194;17431792;17308307;17289999;17226776;17200714;16987815;16167175;16964285;16908521;16485030;16475813;16380381;16172118;16077201;15809076;15772077;15694340;15637055;15615731;15592455;15574335;15501827;15489334;15461802;15323553;15173176;15123718;15117953;15024076;14769944;14716828;14702039;14583606;14581476;12934063;12871587;12808108;12766488;12754217;12598529;12477932;12419244;12196516;12193163;12097160;12061801;12000759;11971973;11940658;11929871;11832478;11805084;11790791;11741882;11585909;11583631;11583622;11544326;10364179;10089877;9790773;9721221;9463381;7929347;7774948;12404116;15659383;11399776;15520201;15353804;15721256;15692567;19918914;20356928;21223573;21178828;20140092;16697956;18029348;19046991;19381674;19640637;19641510;19670908;19711428;19820711;19890662;19929986;20379614;20453000;20802294;20855536;20877624;19029793;20187936;16341674;21041309;19913121;20628086;21072056;20392206;21148306;22964611;23333919;23383273;21367852;21613222;21859891;23604079;21382479;23418437;23824909;15146197;16344560;21113148;21642428;21060336;22246181;22393005;19074440;21856753;21900206;21751259;22052011;22354970;22213163;22130162;21139048;21906983;22464442;22115752;22339673;22860893;23192964;17488272;20404718;20801175 637 A8ASI8;B2ZP79;B3KT21;P55957 ABBA01001430;ABBA01001431;ABBA01001432;AC006285;AC016026;AF042083;AF087891;AF250233;AF370380;AK094795;AK313729;AMYH01012438;AMYH01012439;AY005151;AY309922;BC009197;BC022072;BC033634;BC036364;BM561391;BM842561;BQ068464;CH471193;CN277529;CQ786436;CR407603;CR456389;D89803;DA007047;DA158889;DA274603;DB167767;EU447348;EU678292;EU678293;EU678294;NM_001196;NM_001244567;NM_001244569;NM_001244570;NM_001244572;NM_197966;NM_197967 AAC34365;AAF89091;AAH09197;AAH22072;AAH33634;AAH36364;AAO32633;AAP50259;AAP97190;AAQ15216;ABZ92041;ACA61804;ACD47106;ACD47107;ACD47108;BAF79673;BAG36471;BAG52933;CAG17894;CAG28531;CAG30275;CAK54378;CAK54677;EAW57770;EAW57771;EAW57772;EAW57773;EAW57774;NP_001187;NP_001231496;NP_001231498;NP_001231499;NP_001231501;NP_932070;NP_932071;P55957 Hs.591054 1651664;1685752;1729187;1743413;5015619;5015861;7185938 D10S16;D11S3114;GDB:316037;RH92974;SHGC-36512;p1087L10.C1 FP497;MGC15319;MGC42355 BH3-interacting domain death agonist;BID isoform ES(1b);BID isoform L(2);BID isoform Si6;Human BID coding sequence;OTTHUMP00000196194;OTTHUMP00000196195;OTTHUMP00000196197;OTTHUMP00000241218;apoptic death agonist;desmocollin type 4;p22 BID APPROVED protein-coding ENSG00000015475 1050 03590 601997 REVIEWED 732350 BIN1 bridging integrator 1 This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in ten transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Sep 2011] 2 2 q14 127522077 127581334 - 127805599 127864903 - 1580043;1580047;704404;704405;1580863;6480464;7240710 10652430;12532338 21460840;21623381;10903846;16275660;17474147;8782822;9182667;19004523;18658220;18348166;18154705;17699764;17676042;17671430;17611416;17218774;17210688;17081983;17059209;16530520;16516635;16381901;16115810;15992821;15489336;15483625;15302935;15207703;14704274;14702039;12972505;12773571;12668730;12558988;12477932;12456676;12183633;11709703;11422041;11384986;11306501;11230166;11076863;11032017;10899172;10764771;10738240;10449755;10430869;10391921;10094488;10036185;9603201;9418903;22832961;9736607;9395479;9356459;9348539;9341169;9315708;9280305;9223448;9195986;9182529;9110174;8725406;8619474;16169070;12604805;18817572;20140253;21460841;21447796;11256614;18029348;19418541;19629135;19851296;19915558;20142620;20169111;20198315;20460622;20558387;20211142;21059989;21390209;21129173;20927630;21627779;10380878;8889548;22863883;21379329;21220176;21832049;19144635;21984944;18985028;22810585;22544318;22539578;21321396;19322201;22281836;21347408;21678469;22005930;23202439 274 O75514;Q9BTH3 ABBA01040216;AC012508;AF001383;AF004015;AF043898;AF043899;AF043900;AF043901;AF068914;AF068915;AF068916;AF068917;AF068918;AF070576;AK127325;AK295300;AK301153;AL713697;AMYH01011017;BC004101;BM711160;BT006865;CF594020;CH471103;NG_012042;NM_004305;NM_139343;NM_139344;NM_139345;NM_139346;NM_139347;NM_139348;NM_139349;NM_139350;NM_139351;U68485;U83999;U84004;U87558 AAB61363;AAB63263;AAC17461;AAC23440;AAC23441;AAC23750;AAC23751;AAC24126;AAC24127;AAC24128;AAC28646;AAC39710;AAC39711;AAC39712;AAC39713;AAC51345;AAH04101;AAP35511;AAY24328;ACE86592;BAH12028;BAH13418;CAD28496;CAL37828;EAW95286;EAW95287;EAW95288;EAW95289;EAW95290;EAW95291;EAW95292;EAW95293;EAW95294;EAW95295;EAW95296;EAW95297;EAW95298;EAW95299;EAW95300;EAW95301;EAW95302;EAW95303;EAW95304;EAW95305;EAW95306;EAW95307;NP_004296;NP_647593;NP_647594;NP_647595;NP_647596;NP_647597;NP_647598;NP_647599;NP_647600;NP_647601;O00499 Hs.193163 1665983;1713797;1723301;1734790;1792646;2145088;2219030 BIN1__4446;D2S1563E;G29312;PMC156129P2;RH120786;RH122339;STS-AA039724 AMPH2;AMPHL;DKFZp547F068;MGC10367;SH3P9 OTTHUMP00000162177;OTTHUMP00000162178;OTTHUMP00000162179;OTTHUMP00000162180;OTTHUMP00000162181;OTTHUMP00000162182;OTTHUMP00000162183;OTTHUMP00000162184;OTTHUMP00000162185;OTTHUMP00000203785;OTTHUMP00000203786;amphiphysin II;amphiphysin-like protein;box dependant MYC interacting protein 1;box-dependent myc-interacting protein 1;myc box dependent interacting protein 1;myc box-dependent-interacting protein 1 APPROVED protein-coding ENSG00000136717 1052 03150 255200;601248 REVIEWED 2307244 BIN3-IT1 BIN3 intronic transcript 1 (non-protein coding) 8 8 8 p21.3 21459738 21461576 - 22554748 22555669 - 22497884 22499722 - 14702039;12477932;21832049 80094 Q9H7X8 ABBA01005526;AC037459;AK024169;AMYH01018567;BC013100;CH471080;DN996902;NR_027715 AAH13100;BAB14845;EAW63657 Hs.675917 APPROVED miscrna 25868 07850 VALIDATED 6769738 BIRC6-AS1 BIRC6 antisense RNA 1 22196729 100874009 AL133245 pal3 APPROVED miscrna 40641 1315604 BIN2 bridging integrator 2 12 12 12 q13 50476304 50519423 - 49961089 50004205 - 51674822 51717938 - 6480464 16541075;15489334;14702039;12477932;10903846;8125298;21044950;20379614;21890473;21782286;23285027 51411 F5H0W4;Q9UBW5 AB032698;AB032710;ABBA01031609;ABBA01031610;ABBA01031611;AC046135;AF146531;AK000783;AK093638;AK225911;AK300211;AK314304;AMYH01004463;AMYH01004464;BC047686;BG388638;CH471111;NM_016293 AAD54227;AAH47686;BAA88108;BAA88125;BAA91376;BAG36957;BAH13239;EAW58186;EAW58187;EAW58188;NP_057377;Q9UBW5 Hs.14770 1696968;1707290;2135947;2170747 D12S1811;G21352;RH101956;SHGC-79249 BRAP-1 breast cancer associated protein BRAP1;breast cancer-associated protein 1;bridging integrator 2;bridging integrator-2 protein-coding ENSG00000110934 1053 05805 605936 VALIDATED 1317921 BIN3 bridging integrator 3 The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and bind small GTPases. BAR domain proteins have been implicated in endocytosis, intracellular transport, and a diverse set of other processes. [provided by RefSeq, Jul 2008] 8 8 8 p21.3 21439785 21488652 - 22533876 22582606 - 22477931 22526661 - 1580863;6480464 11274158;16524918;16344560;15489334;14993925;14702039;12477932;8125298;17353931;18654987;17207965;22505724 55909 E5RGB5;E5RHU4;E5RJI6;H7BYV6;Q9NQY0 ABBA01005526;AC037459;AC105046;AF271732;AK001289;AK023980;AK090446;AK124486;AK222470;AMYH01018567;BC001223;BC009824;BC050314;CH471080;DA480525;NM_018688 AAF76218;AAH01223;AAH09824;ADQ31692;BAA91603;BAB14751;BAC03427;BAD96190;EAW63650;EAW63651;EAW63652;EAW63653;EAW63654;EAW63655;EAW63656;NP_061158;Q9NQY0 Hs.654720 1336126;1758887;1786742;2147159;2152812;5014051;5015619;5037552 D11S3114;D8S1733;D8S2278;D8S2279;RH47796;RH48987;SHGC-150806;SHGC-155287 MGC14978 OTTHUMP00000225122;OTTHUMP00000225124;OTTHUMP00000225126;bridging integrator 3 APPROVED protein-coding ENSG00000147439 1054 05904 606396 REVIEWED 1347209 BIRC2 baculoviral IAP repeat containing 2 The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 11 11 q22 101723176 101754611 + 102217913 102249401 + 1580863;1643526;1643527;1643528;1643529;6480464;6484113;6907045 17154176;16504151;12218061;12208731 22434933;11084335;16282325;18022362;8548810;12761501;11106668;19416853;19336370;19223549;19154529;19029953;18931663;18846111;18827186;18676680;18621737;18621506;18570872;18566024;18434593;18239673;18230607;17993464;17822677;17626072;17220297;16983704;16929535;16775178;16701639;16510124;16339151;16189514;16180223;16080516;15911110;15861135;15665297;15501771;15489334;15359644;15318034;15187025;15183896;14960583;14960576;14708638;12888921;12887920;12867425;12865429;12851723;12651874;12603340;12571250;12525502;12477932;12388702;12243753;12209092;11907583;11906213;11604410;11583623;11562359;10929712;10404221;9892732;9642260;9545235;9384571;8943045;8938457;8643514;8552191;8125298;18939944;19011619;10753917;9705938;15353805;15580265;20184394;20614026;20957035;22117219;22733500;17613533;19153467;19170196;19397698;19567200;19692168;19720604;19893574;20097753;20447407;16263936;16775419;19690564;19854138;20562859;20932475;20667824;21414315;20078866;20951133;19913121;20458734;20628086;15218035;21113135;21048031;22990857;23201124;21393245;21549626;19810754;19815541;21048196;21817100;19464198;20005846;21525013;18082613;22927431;21653699;21331077;18775313;19258326;19506082;21849505;21903422;21931591;21795072;22505724;22815481;23007157;20972266;21139048;21628460;21890473;21906983;21987572;22021857;22212761;16344560;18414036;22607974;15078891;19584093;20348096;22403404;15707590;19373254;22591684;11181075;16891304;17069460;19698783;21041727;22493164;23605047;23524849;18022363;21963094;21988832;22274400;22711539;23000965;23109427;23453969;23085658 329 E9PI77;E9PIW1;E9PMH5;E9PNM6;E9PQZ9;H0YDY3;Q13490 ABBA01039934;ABBA01039935;AK225856;AK303197;AK313446;AMYH01003992;AP000942;BC016174;BC028578;BX647978;CH471065;DA094075;DA115985;DQ068066;L49431;NM_001166;NM_001256163;NM_001256166;U37547;U45879 AAC41942;AAC50372;AAC50508;AAH16174;AAH28578;AAY46158;ABM83310;ABM86522;BAG36235;BAG64288;EAW67018;NP_001157;NP_001243092;NP_001243095;Q13490 Hs.696238;Hs.731943 1650274;1682615;1711338;1775376;1792892;2106961;2125309;2158682 A002E11;BIRC2_7224;D11S4286;PMC166414P1;RH11632;RH98380;SHGC-84924;WI-18122 API1;HIAP2;Hiap-2;MIHB;RNF48;c-IAP1;cIAP1 IAP homolog B;IAP-2;NFR2-TRAF signalling complex protein;OTTHUMP00000235704;OTTHUMP00000235706;OTTHUMP00000235707;RING finger protein 48;TNFR2-TRAF-signaling complex protein 2;apoptosis inhibitor 1;baculoviral IAP repeat-containing 2;baculoviral IAP repeat-containing protein 2;inhibitor of apoptosis protein 2 APPROVED protein-coding ENSG00000110330 590 03419 601712 REVIEWED 732624 BIRC3 baculoviral IAP repeat containing 3 This gene encodes a member of the IAP family of proteins that inhibit apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. It contains 3 baculovirus IAP repeats and a ring finger domain. Transcript variants encoding the same isoform have been identified. [provided by RefSeq, Aug 2011] 11 11 q22 101693404 101713675 + 102188181 102210134 + 1580863;1643526;6480464;6484113;6907045 17154176 16123224;16395405;8552191;8548810;19416853;19336370;19302291;19243308;19234489;19223549;19060847;19029953;18953427;18931663;18768389;18676680;18621737;18570872;18566024;18508827;18216531;18195037;17993464;17972100;17927572;17626072;17179183;17133355;17069460;16984419;16983704;16891304;16813569;16799641;16775419;16761316;16467195;16395399;16356540;16339151;16142363;15982633;15856013;15845643;15696476;15598810;15489334;15363040;15183896;15078890;15037009;15023888;14960576;14708638;14562112;14527959;12926068;12865429;12815069;12651874;12651604;12539042;12525502;12477932;12393423;12243753;12161039;12082024;11960389;11907583;11583623;11562359;11066071;10929712;10610122;10233894;9892732;9545235;9384571;8938457;20957035;22195745;22902369;8643514;18784070;18939944;19011619;10753917;9705938;15353805;10862606;15494311;15175157;20691152;20576118;11084335;11604410;11906213;12571250;12867425;15861135;16189514;16282325;16510124;17613533;19170196;19358671;19625176;19692168;19923725;20097753;20237496;20385093;20453000;8943045;9642260;20447407;19690564;20562859;20863547;20547836;19763917;20078866;19913121;20628086;15218035;20063052;21116278;20855536;21048031;20959404;21273489;20079017;19810754;19815541;23259674;19464198;21152357;21331077;21865390;21113135;21817100;18775313;21849505;21931591;21963223;11466612;21795072;21869827;21628460;22083956;21881048;22068233;22434933;22607974;15665297;14685266;15078891;21393245;21229359;22403404;15310755;16701639;19698783;21653699;22493164;21890473;21988832;23032264;23243274;23453969;22215414;22820591;23524849;23543740;23612708 330 H0YCJ5;H0YEZ0;Q13489 AA805622;AA873008;ABBA01039935;ABBA01039936;AF070674;AF178945;AI880555;AMYH01003991;AP000942;AY764389;BC027485;BC037420;BE907592;BG569841;BQ718651;BU428906;BX415415;BX475964;CH471065;HI574220;HI574222;L43346;L49432;NM_001165;NM_182962;U37546;U45878 AAC41943;AAC50371;AAC50507;AAC83232;AAG09369;AAH37420;AAU88144;CBX47599;CBX47600;EAW67017;NP_001156;NP_892007;Q13489 Hs.127799 1694610;1722093;1792894;1793534;1857510;2138843;2164725;2183725 A007H38;G43312;G60088;PMC166414P2;PMC229255P1;RH79205;SGC33804;SHGC-31347 AIP1;API2;CIAP2;HAIP1;HIAP1;MALT2;MIHC;RNF49;c-IAP2 IAP homolog C;IAP-1;OTTHUMP00000235699;OTTHUMP00000235700;OTTHUMP00000235701;RING finger protein 49;TNFR2-TRAF signaling complex protein;TNFR2-TRAF-signaling complex protein 1;apoptosis inhibitor 2;baculoviral IAP repeat-containing 3;baculoviral IAP repeat-containing protein 3;inhibitor of apoptosis protein 1;mammalian IAP homolog C APPROVED protein-coding ENSG00000023445 591 03426 601721 REVIEWED 1349757 BIRC8 baculoviral IAP repeat containing 8 19 19 19 50834544 50836565 - 58484666 58486687 - 53792854 53794875 - 6480464 15485395;12477932;12372615;11597143;11390657;21110914;16344560;19549727;19690564;20800603 112401 Q6PIA0;Q96P09 ABBA01068217;AC092070;AF164682;AF420440;AMYH01009959;BC039318;BC046168;BC056914;BC071665;DB052483;HC006788;HC044547;NM_033341 AAH39318;AAH71665;AAK81892;AAL30369;CBH19200;CBH30603;NP_203127;Q96P09 Hs.348263 1794998;1795000 PMC87089P1;PMC87089P2 ILP-2;ILP2;hILP2 IAP-like protein 2;baculoviral IAP repeat-containing 8;baculoviral IAP repeat-containing protein 8;inhibitor of apoptosis-like protein 2;testis-specific inhibitor of apoptosis APPROVED protein-coding ENSG00000163098 14878 12525 VALIDATED 1344292 BLACE B-cell acute lymphoblastic leukemia expressed q36 14667812 338436 A4D250 AC142169;AY166699;NR_103545 A4D250 Hs.521326 1769359;1779882 D7S61;SHGC-153883 FLACE miscrna 20484 608450 PREDICTED 7243590 BIVM-ERCC5 BIVM-ERCC5 readthrough This locus represents naturally occurring read-through transcription between the neighboring BIVM (basic, immunoglobulin-like variable motif containing) and ERCC5 (excision repair cross-complementing rodent repair deficiency, complementation group 5) genes on chromosome 13. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Feb 2011] 20967262;21890473;21963094;23000965 100533467 Q59FZ7 AB209312;ABBA01027069;AL157769;AMYH01005341;AMYH01005342;NM_001204425 BAD92549;NP_001191354 Hs.258429 1725573;1744719;1788296;1793264;2143820;2152163 G62084;G67467;GDB:554884;PMC20331P2;RH71360;STS-X69978 BIVM-ERCC5 protein protein-coding ENSG00000270181 43690 REVIEWED 7245155 BLACAT1 bladder cancer associated transcript 1 (non-protein coding) q32.1 23688781;14702039;16344560 101669762 AC098936;AK022594;BX640973;DA234729;DA703157;NR_103783 Hs.666219 1680471 RH93942 LINC00912;linc-UBC1 miscrna 48597 VALIDATED 1345581 BIRC7 baculoviral IAP repeat containing 7 This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013] 20 20 q13.3 61337721 61342299 + 61867276 61871854 + 1580863;6480464 11801603;11024045;11865055;11162435;19074843;18837095;18555709;18515985;18451137;18278467;18034418;18031611;17968430;17632732;17519534;17437058;17294084;17035597;16990595;16965834;16840203;16806840;16729033;16437214;16026775;22766624;22711539;15541814;15489334;15009721;14614456;12975309;12488298;12477932;11780052;11322947;11084335;19914791;20460713;20691667;19549727;17613533;17672950;18210873;18315896;18827979;19397802;19549891;19724862;20109966;20237496;20388502;19690982;20607788;20717925;18476630;19635196;21867610;21867615;20416174;20584688;21122381;19806913;21113135;21700335;21617971;22086237;22930255;22931613;22932199;8889548;22033581;22427141;23188704;22902369;22938441;23030305;12620238;23069480;23029054 79444 A8MTF4;Q96CA5 ABBA01021393;AF301009;AF311388;AJ309298;AL121827;AMYH01012075;AY358835;AY358836;AY517497;BC014475;BU737800;CH471077;NG_029552;NM_022161;NM_139317 AAG33622;AAG37878;AAH14475;AAQ89194;AAQ89195;AAS01729;ABM84003;ABM87337;CAC37337;CAC37338;EAW75302;EAW75303;EAW75304;NP_071444;NP_647478;Q96CA5 Hs.256126 KIAP;LIVIN;ML-IAP;MLIAP;RNF50 OTTHUMP00000031536;OTTHUMP00000031537;OTTHUMP00000031538;RING finger protein 50;baculoviral IAP repeat-containing 7;baculoviral IAP repeat-containing protein 7;kidney inhibitor of apoptosis protein;livin inhibitor of apoptosis;livin inhibitor-of-apoptosis;melanoma inhibitor of apoptosis protein APPROVED protein-coding ENSG00000101197 13702 05761 605737 REVIEWED 1316326 BIRC6 baculoviral IAP repeat containing 6 This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain. This protein inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination. [provided by RefSeq, Jul 2008] 2 2 2 p22.3 32426891 32688789 + 32435600 32697470 + 32582096 32843966 + 1580863;1580055;6480464;6907045 15457181 18329369;10544019;19223905;15507451;15300255;14765125;14702039;12477932;12168954;10574462;8889548;7566098;15314180;15200957;20957035;22586326;21542283;20800603;20819778;22863883;22553342;16196087;9628897;15781261;18414036;21987572;22085301;21788403;21139048;21890473;21906983;18654987;21963094;22027771;22113938;22788920;23000965;23287853;22053931;22505724 57448 H7C094;H7C3P0;Q9NR09 AA315620;AB033115;ABBA01074887;ABBA01074888;ABBA01074889;ABBA01074890;ABBA01074891;ABBA01074892;ABBA01074893;ABBA01074894;ABBA01074895;AC079837;AF265555;AK023788;AK023848;AL133243;AL133245;AL133246;AMYH01010231;AMYH01010232;AMYH01010233;AMYH01010234;AMYH01010235;BM674459;BX345326;BX371410;BX411219;CA418956;CH471053;NM_016252 AAF75772;BAA86603;BAB14679;BAB14700;EAX00443;EAX00444;EAX00445;EAX00446;EAX00447;NP_057336;Q9NR09 Hs.150107 1685876;1686682;1693598;1700920;1713255;1718041;1739029;1778161;1792898;1847475;1853188 A004S04;D2S1883;PMC166414P4;RH104087;RH120618;RH122637;RH81018;RH99067;SHGC-37671;SHGC-58506;STS-AA018958 APOLLON;BRUCE;FLJ13726;FLJ13786;KIAA1289 BIR repeat-containing ubiquitin-conjugating enzyme;OTTHUMP00000197747;baculoviral IAP repeat-containing 6;baculoviral IAP repeat-containing protein 6;ubiquitin-conjugating BIR domain enzyme apollon;ubiquitin-conjugating BIR-domain enzyme apollon APPROVED protein-coding ENSG00000115760 13516 05731 605638 REVIEWED 1323580 BIVM basic, immunoglobulin-like variable motif containing 13 13 13 q33.1 84295880 84338368 + 102249400 102291882 + 103451399 103493888 + 6480464 14702039;12477932;12036287;11991713;8125298;19416867;19773279;19322201 54841 C9JUI9;Q86UB2 ABBA01027069;ABBA01027070;AF147319;AF339783;AF339793;AF411385;AK000166;AK126285;AK126520;AK225229;AK290658;AK304391;AL157769;AMYH01005341;AMYH01005342;BC020663;BC039587;BC051813;BC075084;BC075085;BC112339;CH471085;GD145579;NM_001159596;NM_017693 AAH51813;AAH75084;AAH75085;AAI12340;AAM45761;BAA90986;BAF83347;BAG65226;EAX09070;NP_001153068;NP_060163;Q86UB2 Hs.288809 1737481;2111624;2135366;2136146;2179901;2218310;5014051;5037552 BIVM_4448;D13S1028;D13S1560;D8S2278;D8S2279;RH46417;RH66234;WI-5740 FLJ44301;FLJ44556;MGC133326 OTTHUMP00000018676;basic immunoglobulin-like variable motif-containing protein protein-coding ENSG00000134897 16034 09827 VALIDATED 737482 BIRC5 baculoviral IAP repeat containing 5 This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 17 17 q25 73721872 73733311 + 76210277 76221716 + 1580863;2293092;2293101;2293104;2293122;2293138;2293090;2293102;2293108;2293137;2293106;2293125;2293136;2293094;2293096;2293097;2293105;2293126;2293098;2293131;2293135;2293100;2293103;2293109;2293129;2293139;2293091;2298935;2298940;2298936;2298937;2298939;2293093;2293095;2293099;6480464;6907045 18227733;17364499;17240580;18386577;12854136;18451232;17363528;12115583;15081314;16421596;18246794;15453988;18089718;17905101;17890889;17086357;18159002;17877643;17701349;17804712;17285241;11150435;17938867;12604914;18336887;18567002;16803539;18171606;17559031;17441339;18172282;18055328;17828507 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332 H3BLT4;K7ELG2;K7EMW2;K7EP76;Q75SP2 AB028869;AB154416;ABBA01002938;AC087645;AF077350;AI800528;AK223428;AK301793;AK311917;AL519719;AL547142;AMYH01008664;AY795969;AY830084;AY927772;BC000784;BC008718;BC034148;BC065497;BE537971;BG178974;BG759111;BI254058;BI520186;BM476145;BQ687404;CB112371;CH471099;CR541740;DQ227257;DQ310375;DQ310376;DQ310377;DQ310378;DQ310379;DQ508245;DQ508246;DQ508247;DQ508248;DQ508249;HM625836;JA362594;NG_029069;NM_001012270;NM_001012271;NM_001168;U75285 AAC51660;AAD34226;AAH08718;AAH34148;AAH65497;AAV40840;AAW22624;AAY15202;ABB76601;ABC42341;ABC42342;ABC42343;ABC42344;ABC42345;ABF60110;ABF60111;ABF60112;ABF60113;ABF60114;ADM26643;BAA93676;BAD11155;BAD97148;BAG34858;BAH13555;CAG46540;CAL38006;CCA94579;EAW89511;EAW89512;EAW89513;EAW89514;NP_001012270;NP_001012271;NP_001159;O15392 Hs.744872 1795222;5014051;5021872;5022651;5037552;5095949;5109362;5109559 BIRC5_44;D11S2921;D17S1239;D17S1443E;D8S2278;D8S2279;STS-L26245;sY3084 API4;EPR-1 apoptosis inhibitor 4;apoptosis inhibitor survivin;baculoviral IAP repeat-containing 5;baculoviral IAP repeat-containing protein 5;survivin variant 3 alpha APPROVED protein-coding ENSG00000089685 593 04520 603352 REVIEWED 1606631 BLID BH3-like motif containing, cell death inducer This gene encodes a BH3-like motif containing protein involved in cell death. The encoded protein may induce apoptosis in a caspase-dependent manner. The protein is localized in both the cytoplasm and the mitochondrion. [provided by RefSeq, Aug 2011] 11 11 11 q24.1 119146742 119147603 - 121491272 121492133 - 121986062 121986923 - 6480464 18940476;15069058;12477932;20400521;19779542;20838585;20544842;21031016;21846966 414899 Q8IZY5 ABBA01031297;AF303179;AMYH01004094;AP001924;BC130361;BC130363;NM_001001786 AAI30362;AAI30364;AAN31127;ADR83464;NP_001001786;Q8IZY5 Hs.686109 BRCC2;MGC163233;MGC163235 BH3-like motif-containing cell death inducer;OTTHUMP00000231802;breast cancer cell 2;breast cancer cell protein 2 APPROVED protein-coding ENSG00000259571 33495 16392 608853 REVIEWED 1318874 BLK B lymphoid tyrosine kinase This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010] 8 8 p23-p22 11388930 11459517 + 11351521 11422108 + 1580863;2316189;1642307;6480464;6484113;7240710 19180478;17562528 2404338;18204098;14970218;12477932;12406557;11896452;10449731;9525867;9177269;8756631;8636124;8395016;8083187;7845672;7822795;7592958;7592787;19165918;21452313;19225526;19351960;19503088;19644876;19667185;19740902;19796918;19838193;20131239;20131273;20156505;8621719;20130895;20881011;20962850;21068098;20453440;22610502;21408207;22678060;876631;21152986;16273093;18067320;22939624;21978998;19953087;22003931;22446961;22446962;22696686;22748822;22797726;22740142;23053960;23273568;22313735 640 E9PJX5;P51451;Q05D26 ABBA01026878;ABBA01026879;AC022239;AF131216;AK313751;AL832875;AMYH01018481;BC004473;BC007371;BC018703;BC032413;BC038555;BQ057058;CH471157;NG_023543;NM_001715;S76617;Z33998 AAB33265;AAH07371;AAH18703;AAH32413;BAG36491;CAA83965;EAW65617;EAW65618;NP_001706;P51451 Hs.146591 1338349;1707944;1722827;5117316 D8S1695;G60355;GDB:462442;SHGC-82225 MGC10442;MODY11 BLK nonreceptor tyrosine kinase;OTTHUMP00000115909;OTTHUMP00000229490;b lymphocyte kinase;p55-Blk;tyrosine-protein kinase Blk APPROVED protein-coding ENSG00000136573 1057 01866 191305;613375 REVIEWED 1347383 BLCAP bladder cancer associated protein This gene encodes a tumor suppressor protein that reduces cell growth by stimulating apoptosis. The first intron of this gene contains the neuronatin gene, which is imprinted and only expressed from the paternal allele. This gene is imprinted in brain where it is differentially expressed from different promoters. Transcription from the upstream promoter occurs preferentially on the maternal allele, and transcripts are preferentially expressed from the downstream promoter on the paternal allele. Alternative promoters and alternative splicing result in multiple transcript variants that encode the same protein.[provided by RefSeq, Nov 2009] 20 20 20 q11.23 32853082 32863596 - 35579233 35589717 - 36145819 36156333 - 634549;6480464 10197429 18836209;17031575;16675915;16303743;15489334;14702039;12477932;11780052;15342556;16344560;19783793;19908260;16712791;19322201;23049907 10904 A2A2K8;A2A2K9;P62952 AA780553;ABBA01006621;AF053470;AI920860;AK074498;AK124822;AL049288;AL109614;AMYH01011897;AMYH01011898;BC047692;BC071704;BP293276;CB155706;CH471077;DA198124;DA262965;DA632207;DA943717;NM_001167820;NM_001167821;NM_001167822;NM_001167823;NM_006698 AAC06370;AAH47692;AAH71704;EAW76056;NP_001161292;NP_001161293;NP_001161294;NP_001161295;NP_006689;P62952 Hs.472651 1652539;1685327;1740069;1768334;1768336;2108313;2128911;2133420;2137808;2179571;2185942;7186170 A002D19;D20S1120;D20S125E;D20S530E;D20S769;G19955;NNAT_8167;RH27937;RH79915;WI-19586;WI-21755 BC10 OTTHUMP00000030932;OTTHUMP00000178816;OTTHUMP00000178817;OTTHUMP00000178818;OTTHUMP00000178819;OTTHUMP00000178820;OTTHUMP00000178821;OTTHUMP00000178823;bladder cancer 10 kDa protein;bladder cancer related protein (10kD);bladder cancer-associated protein APPROVED protein-coding ENSG00000166619 1055 16552 613110 REVIEWED 1318795 BLM Bloom syndrome, RecQ helicase-like The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008] 15 15 q26.1 89061583 89159690 + 91260579 91358686 + 1580056;1580057;1580863;1599420;6480464;6907045;7240710 10779560;10825162;9388480 22253018;22106380;17878217;11433031;12818200;10871376;12181313;11781842;7585968;11309417;10359700;15604258;17115688;10728666;19465921;19432957;19329795;19237606;19205873;19165145;19109166;18978339;18974064;18971343;18708356;18682526;18676680;18471088;18448429;18401830;18390547;18278455;18270339;18264947;18054789;18029348;18003860;17984114;17961633;17943968;17855454;17728255;17634426;17603497;17599064;17591918;17457718;17407155;16964243;16880735;16876111;16864798;16766518;16620772;16595695;16565220;16537486;16412221;16199871;16030011;15990871;15965237;15959913;15845538;15805243;15775963;15750625;15726604;15635413;15616572;15579905;15539948;15509577;15489334;15302935;15289897;15257300;15229185;15064730;14688284;14685245;14576316;14517203;12975363;12974384;12826610;12702560;12606585;12477932;12444098;12433984;12242432;12080066;12034743;12019152;11960380;11950880;11919194;11916980;11877377;11876000;11790298;11741924;11716541;11691925;11532193;11500040;11472631;11470874;11406610;11278509;10862105;10851073;10823897;10783165;10734115;9671747;9388193;9285778;8022833;1518822;11325959;15364958;11399766;15143166;12973351;15806145;20215422;20211839;21145461;19015241;19170196;19442250;19500012;19542097;19573080;19578796;19625176;19632996;19661064;19671661;19692168;19734539;19773279;19917125;19935873;19945966;19956565;20154148;20237496;20347428;20447876;20445207;21111748;16326861;20639533;19714462;19913121;20628086;20800603;20813000;20301572;20739603;21123383;21113733;21325134;14729972;17500065;20064461;20347429;15829507;20719863;21743438;21240188;23084401;21300576;21712816;21736299;12724401;16116422;22989712;23129629;21567087;21129251;22586326;21815139;22272300;22356911;20360068;21139048;21693764;22563370;23028338;18562274;19471022;22705371;23225144;23322570;23253856;22544709 641 H0YLV8;H0YNU5;P54132 ABBA01053065;ABBA01053066;ABBA01053067;ABBA01053068;AC021422;AC124248;AK295194;AK303159;AK314262;AMYH01006923;AY886902;BC034480;BC062697;BC093622;BC101567;BC107423;BC115028;BC115029;BC115030;BC115031;BC115032;BC143280;BC143288;CH471101;NG_007272;NM_000057;U39817 AAA87850;AAH93622;AAI01568;AAI07424;AAI15031;AAI15033;AAI43281;AAW62255;BAG36927;BAH12008;BAH13907;EAX02107;EAX02108;NP_000048;P54132 Hs.725208 1671023;1740563;1740605;1740607;2122964;2123025;2161305;2169575 A008V47;D15S1129;D15S1144;D15S1145;D15S834;RH18053;STS-T99721;WI-16966 BS;MGC126616;MGC131618;MGC131620;RECQ2;RECQL2;RECQL3 Bloom syndrome protein;DNA helicase, RecQ-like type 2;OTTHUMP00000194750;recQ protein-like 3 APPROVED protein-coding ENSG00000197299 1058 05211 210900;604610 REVIEWED 1316833 BLOC1S1 biogenesis of lysosomal organelles complex-1, subunit 1 BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008] 12 12 12 q13-q14 55762291 55765956 + 54396088 54399751 + 56109818 56113491 + 1580863;6480464 14667819;15102850;17618940;16344560;14702039;12639951;12477932;10747963;10611234;9674425;8770567;8646881;16169070;11031247;11252894;19246570;15146197;20877624;21832049;22423091;21890473;21906983;22309213;22505724;22554196 2647 F8VP73;F8W606;G8JLQ3;H0YHA4;P78537 ABBA01008384;AC009779;AI673441;AI816035;AK307069;AMYH01004494;BC066340;BC130640;BC132795;BQ899204;BU601406;CH471054;CN263524;D64007;DA243440;DA864590;NG_008606;NM_001487;NR_037655;NR_037656;NR_037657;S82447 AAB37682;AAI30641;AAI32796;BAA10887;EAW96824;NP_001478;P78537 Hs.600940;Hs.94672 BLOS1;FLJ39337;FLJ97089;GCN5L1;MGC87455;MICoA;RT14 BLOC subunit 1;BLOC-1 subunit 1;GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1;GCN5 general control of amino-acid synthesis 5-like 1;GCN5-like protein 1;MTA1-interacting coactivator;OTTHUMP00000242529;OTTHUMP00000242530;OTTHUMP00000242994;biogenesis of lysosome-related organelles complex 1 subunit 1;biogenesis of lysosome-related organelles complex-1, subunit 1 APPROVED protein-coding ENSG00000135441 4200 03263 601444 VALIDATED 1347273 BLNK B-cell linker This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012] 10 10 q23.2-q23.33 97941445 98021316 - 97951455 98031333 - 1600518;6480464;6484113;6907045;7240710 10583958 16356554;16344560;16341674;15744341;15588985;15489334;15270728;15087455;14702039;12761551;12514734;12477932;12456653;12093870;11909947;11514608;11489945;11487585;11449366;11356834;11274146;11071869;10981967;10903736;10820378;10556826;10498607;9705962;16568084;9697839;9341187;19218240;19018766;18022864;17681949;16636677;8125298;10684856;12176364;12773374;16385451;16969585;19372136;19641626;20237496;20379614;21048031;21822214;22262777;12496419;21482705 29760 F5GXS1;K7EKR2;K7EM27;Q2MD54;Q2MD59;Q8WV28 ABBA01021830;ABBA01021831;AC021037;AF068180;AF068181;AF180756;AI307343;AK027779;AK225546;AL391057;AM180327;AM180328;AM180329;AM180330;AM180331;AM180332;AM180333;AM180334;AM180335;AM180336;AM180337;AM180338;AM180339;AM180340;AM180341;AM180342;AM180343;AM180344;AM180345;AM180346;AMYH01002970;BC018906;BC110298;BF975580;BM820310;BU597768;CH471066;DA045252;NG_007575;NM_001114094;NM_001258440;NM_001258441;NM_001258442;NM_013314;NR_047680;NR_047681;NR_047682;NR_047683 AAC39936;AAC39937;AAF20382;AAF20383;AAH18906;BAG51377;CAJ55321;CAJ55322;CAJ55323;CAJ55324;CAJ55325;CAJ55326;CAJ55327;CAJ55328;CAJ55329;CAJ55330;CAJ55331;CAJ55332;CAJ55333;CAJ55334;CAJ55335;CAJ55336;CAJ55337;CAJ55338;CAJ55339;CAJ55340;EAW49980;EAW49981;NP_001107566;NP_001245369;NP_001245370;NP_001245371;NP_037446;Q8WV28 Hs.665244 1656818;1699806;1765049 D10S1562;RH103510;SHGC-148592 AGM4;BASH;BLNK-S;LY57;MGC111051;SLP-65;SLP65;bca B cell adaptor containing SH2 domain;B cell linker protein;B-cell activation;B-cell adapter containing a SH2 domain protein;B-cell adapter containing a Src homology 2 domain protein;B-cell linker protein;OTTHUMP00000020167;OTTHUMP00000020168;Src homology 2 domain-containing leukocyte protein of 65 kDa;Src homology [SH2] domain-containing leukocyte protein of 65 kD;cytoplasmic adapter protein APPROVED protein-coding ENSG00000095585 14211 05153 604515;613502 REVIEWED 1321173 BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3 This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 42486265 42489320 + 50373891 50375003 + 45682003 45685058 + 6480464 12576321;15102850;16385460;17081983;12923531;12477932;12191018;11031247;11252894;19197348;20460622;20301464;17182842 388552 K7EN58;Q6QNY0 ABBA01040912;AC005757;AC005779;AK130151;AK130186;AK296695;AMYH01009849;AY531266;BC151151;BC151152;BU616355;DC422050;DN996082;NG_008372;NG_033044;NM_212550 AAI51152;AAI51153;AAT00462;BAC85300;BAG59289;NP_997715;Q6QNY0 Hs.103902 1851787;5015961 D15S1477;RH48388 BLOS3;FLJ26641;FLJ26676;HPS8;RP BLOC-1 subunit 3;biogenesis of lysosome-related organelles complex 1 subunit 3;biogenesis of lysosome-related organelles complex-1, subunit 3;reduced pigmentation, mouse, homolog of APPROVED protein-coding ENSG00000189114 20914 12527 609762;614077 REVIEWED 1312244 BLMH bleomycin hydrolase Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008] 17 17 q11.2 25599349 25643200 - 28575213 28619184 - 1580058;1580059;1580863;6480464;7240710 14732230;16105758 9546396;8639621;18398146;18082847;17854420;16189514;15900213;15489334;12604387;12477932;12082022;11436125;11099722;10973933;10686410;10404591;10353821;10335922;9855622;9500538;9485374;9407121;9331073;8125298;16169070;8620487;21145461;11350084;19615732;22863883;21190945;21310951;22037625;21163940;20198498;20360068;18029348;21943823;21139048;21693764;21890473;21900206;21906983;20301340;21628590;21963094;23000965;22505724 642 E7EMN3;J3KS79;J3KSD8;K7EMJ3;K7ENH5;K7ES02;K7ESE8;Q13867 ABBA01015001;ABBA01015002;AC087644;AC104984;AF091082;AI283058;AK223403;AK301948;AK312896;AMYH01008300;BC003616;BG471412;BT007018;CH471159;DC346179;NG_011440;NM_000386;X92106 AAC72951;AAH03616;AAP35664;BAD97123;BAG35743;BAG63365;CAA63078;EAW51224;NP_000377;Q13867 Hs.371914 1660545;1687049;1749879;1783462;2127178;2219032 BLMH__4450;RH45325;RH91724;SHGC-111440;SHGC-111606;SHGC-24274 BH;BMH BLM hydrolase;bleomycin hydrolase APPROVED protein-coding ENSG00000108578 1059 03870 104300;602403 REVIEWED 1315231 BLOC1S2 biogenesis of lysosomal organelles complex-1, subunit 2 This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 10 10 10 q24.31 95771676 95784317 - 102023703 102036429 - 102033035 102046469 - 2302154;6480464 16176350 15381421;15102850;18188704;19083121;15489334;15164054;14702039;12923531;12576321;12477932;12191018;11483580;18329849;19615732;20308062;15146197;21139048;21697133;21832049;21900206;16712791 282991 F1T0F0;J3QRU7;Q6QNY1 AB593084;ABBA01063228;ABBA01063229;AK054697;AK298969;AL138921;AL139819;AMYH01002997;AY278457;AY531265;BC020494;BF666010;BG545838;BG679165;BI753469;BX112121;CB118026;CH471066;CN340962;NM_173809;NR_046296;NR_046314;NR_046315 AAH20494;AAQ19606;AAT00461;BAG61064;BAJ84024;EAW49835;EAW49836;EAW49837;NP_776170;Q6QNY1 Hs.34906 2167444;2175233;2184379;2219034;5015619;5015961;5024039;5037552 BLOC1S2__4451;D11S3114;D15S1477;D16S325;D8S2279;RH45831;RH47426;SHGC-34558 BLOS2;FLJ30135;MGC10120;RP11-316M21.4 BLOC-1 subunit 2;OTTHUMP00000020281;OTTHUMP00000020282;biogenesis of lysosome-related organelles complex 1 subunit 2;biogenesis of lysosome-related organelles complex-1, subunit 2;centrosomal 10 kDa protein;centrosome protein oncogene;centrosome-associated protein APPROVED protein-coding 20984 12526 609768 VALIDATED 5133076 BLOC1S5-TXNDC5 BLOC1S5-TXNDC5 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring MUTED (muted homolog) and TXNDC5 (thioredoxin domain containing 5) genes on chromosome 6. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Dec 2010] 6 p 7881483 8064647 - 11181995;12477932;20967262 100526836 H3BN57 ABBA01022048;ABBA01022049;ABBA01022050;ABBA01022051;ABBA01022052;ABBA01022053;AL023694;AL096800;AL133541;AMYH01016064;AMYH01016065;BC052310;CH471087;NR_037616 AAH52310;EAW55223 Hs.150837 1649676;1654410 A002L04;WI-13193 FLJ21789;MGC59718;MUTED-TXNDC5 APPROVED miscrna ENSG00000259040 42001 VALIDATED 1602324 BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 6619850 6621391 + 6768743 6770288 + 6717842 6719387 + 6480464 15489334;15102850;14702039;12923531;12576321;12477932;12191018;11110696;11031247;11252894;21900206;22203954 55330 Q9NUP1 ABBA01012727;AC093323;AF085849;AI679712;AK002092;AMYH01013918;BC001818;BC009890;BC067815;CH471131;NM_018366 AAH67815;BAA92080;EAW82382;NP_060836;Q9NUP1 Hs.7570 1648236;1652248 SHGC-32908;SHGC-67821 BCAS4L;BLOS4;CNO;FLJ11230 BLOC-1 subunit 4;OTTHUMP00000155165;biogenesis of lysosome-related organelles complex 1 subunit 4;cappuccino homolog;protein cappuccino homolog APPROVED protein-coding ENSG00000186222 24206 12035 605695 REVIEWED 1353512 BLZF2P basic leucine zipper nuclear factor 2 pseudogene 14 14 14 q24.1 49394258 49397701 - 68403029 68406681 - 69333375 69336827 - 317729 ABBA01023683;AL132986;AMYH01005821;NG_002462 pseudo 20049 INFERRED 1315693 BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010] 6 6 6 p25.1-p24.3 9243487 9293945 - 7959213 8009646 - 8013800 8064647 - 6480464 15102850;17618940;15489334;14574404;12923531;12576321;12477932;12191018;12019270;11912185;21145461;17182842;19615732;16341674;16344560;21044367;20562859;21832049 63915 G5E931;Q8TDH9 AA653396;ABBA01022052;ABBA01022053;AF426434;AK025442;AK301142;AK311385;AL023694;AL096800;AMYH01016065;BC032438;BC119644;BC119645;BM829259;BX647336;CH471087;CR749569;DA635930;NM_001199322;NM_001199323;NM_201280 AAH32438;AAI19645;AAI19646;AAL99385;BAG62734;CAH18364;EAW55225;NP_001186251;NP_001186252;NP_958437;Q8TDH9 Hs.719272 1339010;1661550;1685445 D6S1674;RH48250;RH94181 BLOS5;DKFZp686E2287;FLJ18427;MU;MUTED BLOC-1 subunit 5;OTTHUMP00000016007;OTTHUMP00000212220;biogenesis of lysosome-related organelles complex 1 subunit 5;muted homolog;protein Muted homolog APPROVED protein-coding ENSG00000188428 18561 06289 607289 REVIEWED 1352048 BMIQ1 body mass index quantitative trait 1 11713718 170815 1338834 D7S1804 23827 1348709 BMIQ2 body mass index quantitative trait 2 11713718 192149 1857361 D13S257 23828 1349561 BMIQ3 body mass index quantitative trait 3 11713718 337895 1298296;1331554 D6S1009;D6S305 23829 1344681 BMIQ4 body mass index quantitative trait 4 7240710 11713718 338026 1298235;1298267 D11S1998;D11S4464 23830 607447 1342866 BMF Bcl2 modifying factor The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 15 15 q14 38167383 38188367 - 40380091 40401075 - 737633;2314029;6480464 12477932;19641503 11546872;12591950;19300516;18354037;17557568;17360431;16830229;16484005;15694340;15489334;14702039;14574334;14561217;11214971;15721256;21533175;17207965;20819778;16712791;16697956;19267218;19641506;19671867;20861305;20706276;15342556;21673109;22327514;21988832;23192964;16260615 90427 H0YK50;H0YNT3;Q96LC9 ABBA01038460;AC021755;AI281003;AK024472;AMYH01006558;AY029254;AY222040;AY222041;BC060783;BC069328;BC069505;BC070043;BC104983;BC104985;BG744712;BP280415;BQ064116;CB108463;CH471125;HY090235;N41452;NM_001003940;NM_001003942;NM_001003943;NM_033503 AAH60783;AAH69328;AAH69505;AAH70043;AAI04984;AAI04986;AAK38748;AAP22965;AAP22966;ADQ32892;BAB15762;EAW92393;NP_001003940;NP_001003942;NP_001003943;NP_277038;Q96LC9 Hs.591104 1339484;1732131;2118588;2187635 D15S1280;D15S129;D15S214;UniSTS:71295 FLJ00065 OTTHUMP00000160316;bcl-2-modifying factor APPROVED protein-coding ENSG00000104081 24132 05881 606266 REVIEWED 1314490 BLVRB biliverdin reductase B (flavin reductase (NADPH)) The final step in heme metabolism in mammals is catalyzed by the cytosolic biliverdin reductase enzymes A and B (EC 1.3.1.24).[supplied by OMIM, Jul 2009] 19 19 q13.1-q13.2 45645541 45663516 - 40953691 40971725 - 1580863;6480464;6907045 8117274;19027726;18241201;15489334;12626517;12477932;11224564;8799475;8687377;8313871;8280170;7929092;7656592;1286669;12909459;22939629;21906983;18029348 645 M0QZL1;M0R192;P30043 ABBA01040760;ABBA01040761;ABBA01040762;ABBA01040763;ABBA01040764;AC010271;AC020929;AK312137;AMYH01009802;AMYH01009803;AY340485;BC109371;BG340491;BU528444;CH471126;D26308;D32143;NM_000713 AAI09372;AAP88933;BAA05370;BAA06874;BAG35073;EAW56969;EAW56970;EAW56971;EAW56972;NP_000704;P30043 Hs.515785 1649879;2118192;2122176;2140288 A009D36;RH16416;RH46045;SHGC-33106 BVRB;FLR;MGC117413;SDR43U1 BVR-B;FR;GHBP;NADPH-dependent diaphorase;NADPH-flavin reductase;biliverdin-IX beta-reductase;flavin reductase;flavin reductase (NADPH);green heme-binding protein;short chain dehydrogenase/reductase family 43U, member 1 APPROVED protein-coding ENSG00000090013 1063 02967 600941 VALIDATED 733010 BLVRA biliverdin reductase A The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011] 7 7 p13 43764797 43813466 + 43798272 43846941 + 1580863;6480464;6907045 21241799;10858451;19243019;19238116;18463290;17402939;17227757;15741166;15489334;14988408;12853948;12477932;12456881;8950184;8889548;8631357;8424666;7929092;21110914;19580635;19690164;20177069;20410444;12909459;20430037;20485444;20526373;21099244;21278388;21483094;21721974;21139048;21890473;21906983;19471022;23000965;22776971 644 C9J1E1;P53004 AACC02000040;ABBA01058193;ABBA01058194;ABBA01058195;AC004939;AC004985;AC005189;AK291862;AMYH01017206;AMYH01017207;AY616754;BC005902;BC008456;BM710258;CA418616;CH236951;CH471073;NG_031876;NM_000712;NM_001253823;U34877;X93086 AAC35588;AAD05025;AAH05902;AAH08456;AAP21879;AAT11126;BAF84551;CAA63635;EAW94171;NP_000703;NP_001240752;P53004 Hs.488143 1653693;1653695;1660596;1687840;2130614;2130616;2142584;2142968;2166200;5124986 A006I27;G20849;GDB:444063;RH47289;RH69251;RH79646;SGC34648;SGC34667;STS-D51504;STS-U34877 BLVR;BVR;BVRA BVR A;OTTHUMP00000159196;OTTHUMP00000207534;biliverdin reductase A;biliverdin-IX alpha-reductase APPROVED protein-coding ENSG00000106605 1062 11229 109750;614156 REVIEWED 1320975 BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 15 15 15 q21.1 22770564 22793057 + 43666709 43689201 + 45879417 45901909 + 1580863;6480464 11936273;15102850;10610180;16189514;16169070;15489334;14702039;12923531;12576321;12477932;12191018;12019270;9110174;8986625;8619474;8608138;2968981;19546860;11031247;11252894;20936779;21832049;17182842;19322201;20301464;21988832 26258 B3KY40;H3BML5;H3BMT8;H3BN13;H3BN73;H3BNE3;H3BPR6;H3BR42;H3BRA4;H3BST1;H3BU57;Q9UL45 ABBA01039176;AC090527;AF080470;AF131859;AK057545;AK128626;AK315581;AMYH01006620;AMYH01006621;BC004819;BC026289;CH471082;NG_028194;NM_012388 AAF08343;AAH04819;ADZ15783;BAG37954;BAG54702;EAW77330;NP_036520;Q9UL45 Hs.7037 1655172;1771238;1798000;1855975;2177342;5022578;5037552 D15S1094;D1S1423;D8S2279;HUMHM01F10;PLD3_2311;RH11270;STS-N35229 BLOS6;HPS9;PA;PALLID;PLDN BLOC-1 subunit 6;OTTHUMP00000162199;biogenesis of lysosomal organelles complex-1, subunit 5, pallidin;biogenesis of lysosome-related organelles complex 1 subunit 6;pallid protein homolog;pallidin;pallidin homolog;syntaxin 13 binding protein 1;syntaxin 13-interacting protein pallid APPROVED protein-coding ENSG00000104164 8549 16055 604310;614171 REVIEWED 1349052 BLZF1 basic leucine zipper nuclear factor 1 1 1 1 q24 142446973 142475560 + 167603818 167632406 + 169337194 169365782 + 6480464 9129147;11056056;19064610;16710414;15489334;14702039;12477932;11739746;11739401;10602419;9823948;9442054;8125298;11739402;21478859;19536175;18029348;20211142;20398657;21906983 8548 Q5T532;Q5T534;Q9H2G9 ABBA01027952;ABBA01027953;AF272386;AF272387;AF272388;AF273875;AF288161;AF288162;AK055883;AK223533;AK291725;AK307151;AL021068;AL356852;AMYH01001488;BC020716;BI458959;BI460514;CH471067;NM_003666;U79751 AAB63110;AAG37821;AAG37822;AAG37835;AAH20716;ABM82306;ABM85483;BAD97253;BAF84414;EAW90837;EAW90838;EAW90839;NP_003657;Q9H2G9 Hs.130746 1646645;1656813;1677094;1700310;1770099;2109087;2162257;5022651 A007J25;BLZF1_8827;D11S2921;RH103775;RH16672;RH65485;RH92136;SHGC-32124 GOLGIN-45;JEM-1;JEM-1s;JEM1;MGC22497 Golgin-45;JEM-1short protein;OTTHUMP00000033500;OTTHUMP00000033501;OTTHUMP00000033504;cytoplasmic protein;p45 basic leucine-zipper nuclear factor protein-coding ENSG00000117475 1065 16367 608692 VALIDATED 1344269 BMP2KL BMP2 inducible kinase-like X X X q13.2 73689230 73690613 + 73322480 73323715 + 73405760 73407143 + 347359 Q5H9B9 ABBA01059593;AMYH01022613;NG_009518;Z83843 Q5H9B9 pseudo 17080 INFERRED 733110 BMP2 bone morphogenetic protein 2 The protein encoded by this gene belongs to the transforming growth factor-beta (TGFB) superfamily. The encoded protein acts as a disulfide-linked homodimer and induces bone and cartilage formation. [provided by RefSeq, Jul 2008] 20 20 p12 6696745 6708910 + 6748745 6760910 + 1580077;1625347;734647;1625350;1580863;2289030;1643592;2289037;2299981;6480464;6484113;6907045;7240710 16361357;15334463;2117991;17002564;17656261;16519147;16651391;15042598 19238726;19140318;19139264;19123988;19113914;19112539;19098993;19080362;19079261;19058174;19038372;19023570;18937504;18818419;18812404;18773965;18720410;18720162;18703506;18600473;18586671;18546152;18512729;18510873;18490653;18471510;18465455;18434375;18426824;18404105;18400943;18184661;15254224;15621726;17472960;15110716;2315314;11502704;18436533;16049014;17029022;17356069;19492344;19453261;19375587;19341710;19327734;19324883;19301257;19281856;19266077;19240369;18391951;18389292;18382765;18326817;18311072;18287331;18179800;18160401;18156628;18059158;18059017;18029192;18021008;17997109;17960657;17919499;17847004;17824831;17726567;17711857;17681894;17617489;17553463;17549388;17530715;17519894;17518682;17504062;17437303;17416365;17401695;17262821;17255107;17138967;17120779;17003113;16893455;16835229;16815889;16771708;16754660;16753015;16719933;16672363;16637042;16621789;16615932;16613856;16604289;16598384;16453284;16442268;16432645;16391828;16326713;16261446;16247476;16157126;16150699;16126463;16000303;15861517;15851600;15671031;15647840;15647827;15641068;15592496;15358784;15322112;15240857;15150273;15102076;15039429;15037653;15020244;14699493;14691541;14660436;14623234;14587031;14558086;14499589;13678785;12933820;12925611;12919699;12897139;12872164;12856332;12854828;12819188;12740218;12620973;12535648;12531697;12527559;12489168;12477932;12210753;12168799;12126644;12082094;12052447;12002771;11968014;11854297;11837817;11811554;11792561;11780052;11748585;11741887;11718007;11642720;11497252;11456401;11263668;11180925;10881198;10880444;10704850;10692589;10657699;10220513;10196167;10085302;10074410;9872992;9493905;9197246;8006002;7811286;3201241;2376592;2004778;1487246;15857508;10712517;7791754;11953135;21471203;19924575;21096864;21415150;20432245;21277338;15064755;16243309;17168321;17244894;17577985;17608624;17992660;18950289;19018606;19231972;19324447;19473100;19582526;19584291;19609629;19639199;19653054;19655815;19693635;19699244;19713532;19736317;19762079;19782107;19797419;19799789;19800879;19811499;19835871;19879168;19909214;19918795;20039267;20060812;20065295;20232298;20237276;20306291;20346918;20424473;20432444;20546278;8752214;9187146;9213002;9693150;21254281;20576608;20651281;20587070;20565259;20302941;20567515;22366399;20304956;20637325;20679527;20506112;20818491;20939477;21054789;16433617;20041271;19754224;19857615;20014079;20530805;20548225;19913121;20348041;20505824;20546612;20555025;20587610;20628086;20634891;20659471;20672350;20677014;20721706;20730440;20670444;20537331;20734064;20816195;20668165;20682677;20927405;21128211;19438813;21885439;20874259;21205918;19670606;21688537;20684029;21084396;21121067;23160099;22778550;22583106;22674456;22791809;23017834;23122408;23150675;22652428;21247344;21702718;21212630;21285872;21570392;23010719;21308777;22958403;19953937;20825377;20848249;21347550;21655089;21688312;21659661;21660578;21673630;21998741;21777514;21401418;21842277;21907184;20838369;21308375;18545679;22270235;22359486;21755409;22102412;21327739;22310349;22496405;22119392;21688123;16194878;17202865;23161572;21720209;21923031;19664780;22323359;21876344;20301613;22540193;20881960;22542719;22652796;22771956;23079991;22894570;23088504;23192572;23239467;23251661;23266556;23341458;23396134;22961954;23023810;23359411;18160010;22965927;23142810 650 C8C060;P12643 ABBA01053905;AF040249;AL035668;AMYH01011696;BC069214;CH471133;GQ335529;GQ335531;HI961649;M22489;NG_023233;NM_001200 AAA51834;AAF21646;AAI40326;AAI48690;ACE86832;ACE87518;ACV32585;ACV32587;CBY84970;EAX10386;EAX10387;NP_001191;P12643 Hs.73853 1339398;1647797;1769780;1795438;2110529;2157002 BMP2_294;D20S1011;D20S892;MARC_41391-41392:1086625030:1;RH66075;RH71375 BDA2;BMP2A BMP-2A;OTTHUMP00000030228;bone morphogenetic protein 2;bone morphogenetic protein 2A APPROVED protein-coding ENSG00000125845 1069 00206 112261;112600;235200 REVIEWED 1348038 BMI1 BMI1 polycomb ring finger oncogene 10 10 p11.23 22650146 22660194 + 22610139 22620414 + 1580058;1580059;6480464 14732230;16105758 20568112;17420273;7715727;9367786;19269851;19233177;19228380;19021148;18829528;18817867;18781299;18701473;18668134;18592462;18591938;18565849;18475299;18450386;18439910;18438345;18427816;18347933;18346113;18269588;18264721;18246051;18228133;18156489;18094618;17989714;17974970;17917742;17711569;17625597;17597110;17557835;17545584;17454639;17452456;17360938;17344414;17233832;17179983;17161394;17151361;17148591;17148583;17145814;17145810;17134822;17081983;16982619;16963837;16936260;16874656;16751658;16714294;16537449;16501599;16359901;16344560;16314526;16169070;16107895;15931389;15897469;15563468;15489334;15386022;15029199;15009096;14536079;12829790;12714971;12482990;12482919;12477932;12408802;12183433;12183370;12167701;11171983;10825164;10737800;10574711;9858531;9199346;9121482;21309753;19451220;22325352;22366984;9009205;8390036;8268912;22863087;23092893;23204235;23239878;19778799;19957112;20668194;22120721;10445843;15334543;16710298;17114435;17157253;17298744;17332741;17666329;18453536;19080002;19080003;19337376;19386347;19389366;19452584;19543317;19556423;19605626;19639171;19695678;19806792;19884659;19903340;19903841;19907431;19934271;19940551;19956605;20015867;20024662;20035051;20085590;20127006;20145620;20170541;20190806;20377880;20385206;21059209;19549727;20574517;20818389;20921134;20428793;20564407;20592341;18029348;19636380;20211142;20426791;20530672;20809956;20569464;19462008;20724541;20818602;20308890;20551323;22994774;23523425;21370603;21428211;21113618;21252986;21276135;20717685;21152871;21276221;21039844;21162745;21164364;21170084;22907436;22664532;23207902;19099625;21125401;21383063;22766604;22842564;21307872;12167161;22493164;19379548;19012049;20601937;20800574;21430439;21638011;23308129;23667531;22898137;23601184;23700898;23744494;21496667;22777769;21373837;21919891;21047978;21179169;21772249;21572997;21851624;20591222;21755556;21865393;21960247;22252887;22265735;21685941;21735131;21856782;21999765;21675959;22509111;22420951;22009787;21282530;21890473;21988832;22897849;23023333;20661663;21725369;22120066;21678481;21732356;22096526;22132147;19322201;21259057;21676867;22293918;22384090;22872929;22170051;22209830;12589020;23057360;23255074;23383216;21656027;23078618;21883379;22040961;22825250;22912356;21866458;22982443;22967049 648 P35226;Q5T8Z1;Q5T8Z2;Q5T8Z4;Q5T8Z5;Q5T8Z6 ABBA01034480;AI274830;AL158211;AMYH01002180;AMYH01002181;AMYH01002182;BC011652;BE008203;BT019450;CH471072;CR456911;DB161566;DB225488;L13689;NM_005180 AAA19873;AAH11652;AAV38257;CAG33192;EAW86148;EAW86150;EAW86151;EAW86154;NP_005171;P35226 Hs.380403;Hs.731287 FLVI2/BMI1;MGC12685;PCGF4;RNF51 B lymphoma Mo-MLV insertion region 1 homolog;OTTHUMP00000019290;OTTHUMP00000019291;OTTHUMP00000019293;OTTHUMP00000019294;flvi-2/bmi-1;murine leukemia viral (bmi-1) oncogene homolog;oncogene BMI-1;polycomb complex protein BMI-1;polycomb group RING finger protein 4;polycomb group protein Bmi1;polycomb group ring finger 4;ring finger protein 51 protein-coding ENSG00000168283 1066 01277 164831 VALIDATED 730933 BMP15 bone morphogenetic protein 15 The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The transforming growth factor-beta superfamily includes large families of growth and differentiation factors. It is thought that this protein may be involved in oocyte maturation and follicular development as a homodimer or by forming heterodimers with a related protein, Gdf9. Defects in this gene are the cause of ovarian dysgenesis 2.[provided by RefSeq, Sep 2009] X X p11.2 50670524 50676347 + 50653735 50659641 + 1599496;734646;1580863;6480464;7240710 16508750;10888873 15489334;9849956;19263482;18614612;18308851;18227435;18006624;17905236;17826728;17464588;17027369;16645022;16464940;15809424;15772651;21496799;15136966;14970198;12477932;12446716;12419820;11741284;10998422;10443672;22382392;22356426;20547206;18980767;19346101;19376510;19438907;19553676;19635612;19651638;19933466;20067794;20236105;20364024;20734064;20937357;21226076;21669410;21632818;22014425;21565556;22825968;22294741 9210 O95972 ABBA01060056;ABBA01060057;AF082349;AF082350;AJ132405;AL359914;AMYH01022332;BC069155;BC117264;BC117266;CH471180;NG_012894;NM_005448 AAC99768;AAH69155;AAI17265;AAI17267;ADR82968;CAB43531;EAW89914;NP_005439;O95972 Hs.532692 1795436;5016029 BMP15;BMP15_481 GDF9B;ODG2;POF4 BMP-15;GDF-9B;OTTHUMP00000023297;bone morphogenetic protein 15;growth/differentiation factor 9B APPROVED protein-coding ENSG00000130385 1068 02216 300247;300510 REVIEWED 1605441 BMP1 bone morphogenetic protein 1 This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008] 8 8 p21.3 22078835 22125782 + 22022653 22069839 + 6480464 16824737;3201241;7798260;19323056;18824173;18349123;18056036;17548836;17516847;17407447;17255107;17071617;16806233;16507574;16344560;15817489;15591058;15525470;15225209;14759258;14702039;12637569;12637537;12477932;12218058;11986329;11741999;11283002;11260715;10806203;10479448;9500680;8643539;8553073;8530106;8404039;2004778;15857508;21453682;21415150;16169070;19305382;19617627;19801683;20026052;20237496;20955454;12393877;20628624;23505323;21697095;21258932;18624398;21897187;21946044;22482805;22052668 649 B7ZKR5;E5RH22;Q3MIM8;Q99422 AB209590;ABBA01005507;ABBA01005508;ABBA01005509;AC105206;AF318323;AK126396;AK226123;AK291620;AL137746;AMYH01018565;BC002593;BC009305;BC032105;BC044626;BC101763;BC101765;BC136679;BC142953;BC143338;BC144365;BC144366;BE619065;BU627735;CH471080;DA720194;DA864391;DR004420;L35278;L35279;M22488;NG_029659;NM_001199;NM_006129;NR_033403;NR_033404;U50330;Y08723;Y08724;Y08725 AAA51833;AAA93462;AAC41703;AAC41710;AAI01764;AAI01766;AAI36680;AAI42954;AAI43339;AAL55830;BAD92827;BAF84309;CAA69973;CAA69974;CAA69975;EAW63697;EAW63698;EAW63702;NP_001190;NP_006120;P13497 Hs.1274 1660966;1671114;1725833;1742917;1769489;1786790;2113882;2137518;2153216;2155247;2178086;5014053 A005O36;D14S1296;D1S3693;G62003;GDB:215516;RH66510;RH78298;RH78932;SFTPC;SGC35299;SHGC-156059;WIAF-1622 FLJ44432;OI13;PCOLC;PCP;PCP2;TLD;pCP-2 OTTHUMP00000123391;OTTHUMP00000224828;OTTHUMP00000224832;OTTHUMP00000224834;OTTHUMP00000227399;bone morphogenetic protein 1;mammalian tolloid protein;procollagen C-endopeptidase;procollagen C-proteinase APPROVED protein-coding ENSG00000168487 1067 00209 112264;614856 REVIEWED 1353352 BMP10 bone morphogenetic protein 10 The protein encoded by this gene is a member of the TGF-beta family of growth factors. Data suggest that the similar protein in mouse plays an important role in trabeculation of the embryonic heart. In human, this protein may signal through receptor serine/threonine kinases. [provided by RefSeq, Jul 2008] 2 2 2 p13.3 68943104 68949140 - 68946117 68952153 - 69092613 69098649 - 1580863;2302083;6480464 17921333 17068149;16049014;10072785;15815621;15489334;12477932;19913121;20628086;20634891;20608934;20237496;20734064;21550985;21737454;21988832;23645739;19903896 27302 O95393 ABBA01075491;AC097495;AF101441;AMYH01010419;BC069080;BC101734;BC105063;CH471053;NG_032117;NM_014482 AAC77462;AAH69080;AAI01735;AAI05064;AAY15075;EAW99863;NP_055297;O95393 Hs.158317 1795434 BMP10_720 MGC126783 BMP-10;OTTHUMP00000159973;bone morphogenetic protein 10 APPROVED protein-coding ENSG00000163217 20869 09788 608748 REVIEWED 1350917 BMP6P1 bone morphogenetic protein 6 pseudogene 1 22 22 22 q11.2 6357301 6358947 + 20869860 20871506 + 22539860 22541506 + 9074928;19738031 266700 ABBA01055082;AMYH01012639;D87000;NG_000002 1777055 D22S585 TGF-beta1P;TGFB1P pseudo 19329 VALIDATED 1604611 BMP2K BMP2 inducible kinase This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q21.21 76993004 77128983 + 79916556 80052365 + 79697532 79833341 + 6480464 17081983;16753015;15489334;15254968;14702039;12665801;12477932;11693963;11500515;9853615;19336002;16751776;19453261;19927351;20811636;18029348;19380743 55589 H0Y9P1;K4DI97;Q4W5H2;Q9NSY1 AB015331;ABBA01063387;ABBA01063388;ABBA01063389;AC093841;AC098818;AF527532;AK021620;AK075278;AK292147;AL137275;AL137661;AMYH01014331;BC036021;CH471057;NM_017593;NM_198892 AAH36021;AAM88867;AAY40926;ABM81920;BAA34790;BAC11515;BAF84836;CAB70673;CAB70863;EAX05829;EAX05830;EAX05831;EAX05832;EAX05833;EAX05834;EAX05835;NP_060063;NP_942595;Q9NSY1 Hs.146551 1337651;1340838;1646234;1658860;1693710;1788634;1797324;1852600;2171790;5014051;5037552;5095905;5109281 BMP2K_2550;D1S1425;D4S2947;D4S3003;D8S2278;D8S2279;RH18145;RH66110;SHGC-50474;SHGC-58631;SHGC-59236;SHGC-67617;STS-N20237 BIKE;DKFZp434K0614;DKFZp434P0116;HRIHFB2017 BMP-2-inducible protein kinase;OTTHUMP00000219234;OTTHUMP00000219235 APPROVED protein-coding ENSG00000138756 18041 09828 REVIEWED 735356 BMP3 bone morphogenetic protein 3 BMP3 belongs to the transforming growth factor-beta (TGFB) superfamily. Bone morphogenic protein, also known as osteogenin, induces bone formation. [provided by RefSeq, Jul 2008] 4 4 q21 82171143 82197709 + 81952119 81978685 + 1580863;2289037;6480464 16651391 3201241;18391951;18311777;17924656;15489334;15475196;15269709;13678778;12477932;11642720;11138004;9434787;2612162;2211625;2004778;1970330;21415150;19453261;20143330;20238409;7811286;20532035;20734064;21628466;22303795;23127436;23396134;23449627 651 P12645 ABBA01063411;AC093883;AMYH01014349;BC096269;BC096270;BC096271;BC117514;CH471057;M22491;NM_001201 AAA51836;AAH96269;AAH96270;AAH96271;AAI17515;EAX05866;NP_001192;P12645 Hs.387411 1652871;2136538;2179601 RH66829;SHGC-51737;STS-M22491 BMP-3A BMP-3;OTTHUMP00000160802;bone morphogenetic protein 3;bone morphogenetic protein 3 (osteogenic);bone morphogenetic protein 3A;bone morphogenetic protein-3;osteogenin APPROVED protein-coding ENSG00000152785 1070 00208 112263 REVIEWED 1353193 BMP6 bone morphogenetic protein 6 The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has lead to speculation of possible bone inductive activity. [provided by RefSeq, Jul 2008] 6 6 p24-p23 7672010 7826960 + 7727011 7881961 + 1580863;2289017;2289018;2289024;1643590;2289020;6480464;6484113;6907045;7242189;7242194;7242407;7242413;7242415;7242419 18072288;16166304;11245809;17004110;16388909;23097200;22361727;21859731;22364398;21356359;20016212 16886151;16527843;18436533;19308091;19266077;19252488;19245827;19093115;19075223;18949431;18931653;18688853;18683889;18632632;18391951;18349123;18326817;18308844;18187665;18070108;17924656;17899540;17879955;17575215;17574840;17262821;17238135;16604289;16547600;15877825;15861517;15784727;15548695;15516325;15186723;14660436;14623234;14574404;14558086;13130469;12897139;12477932;12140680;11401330;10582704;10504300;9512655;9435314;9417921;9331107;9116752;8089189;7605353;2263636;1453478;1427904;20460105;20567515;17244894;17577985;18805502;19539911;19543302;19694819;19718049;19765379;20048150;20379614;7811286;20573596;20844121;20530805;22086350;20546612;20587610;20634891;20734064;20605837;21136273;21622652;19366699;21898381;11865031;20401668;22305102;22419666;20881960;21963094;22792339;22641693;23049088 654 P22004;Q4VBA3 ABBA01022046;ABBA01022047;ABBA01022048;AF083030;AK300628;AL133541;AL135778;AMYH01016064;BC096084;BC096085;BC099624;BC099625;BC111763;BC112352;BC113018;BC113019;BC128031;CH471087;M60315;NM_001718 AAA36737;AAC33283;AAH96084;AAH96085;AAH99624;AAH99625;AAI11764;AAI12353;AAI13019;AAI13020;AAI28032;AAI60106;BAG62319;EAW55219;NP_001709;P22004 Hs.285671 1649676;1654410;1694260;1697148;1708270;1713133;1713297;1751037;1761537;1852382;2178853 A002L04;AL035176;D6S1842;NIB594;RH102060;RH120353;RH120640;SHGC-104947;SHGC-145537;SHGC-79401;WI-13193 VGR;VGR1 BMP-6;OTTHUMP00000016006;VG-1-R;VG-1-related protein;VGR-1;Vg1-related sequence;bone morphogenetic protein 6;vegetal related growth factor (TGFB-related);vegetal-related (TGFB related) cytokine 2289435 BMD4_H APPROVED protein-coding ENSG00000153162 1073 00211 112266 REVIEWED 1314330 BMP5 bone morphogenetic protein 5 This gene encodes a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. These proteins are synthesized as prepropeptides, cleaved, and then processed into dimeric proteins. This protein may act as an important signaling molecule within the trabecular meshwork and optic nerve head, and may play a potential role in glaucoma pathogenesis. This gene is differentially regulated during the formation of various tumors. [provided by RefSeq, Jul 2008] 6 6 p12.1 55728195 55848334 - 55620236 55740375 - 1580863;6480464;6907045 17656261;17220169;16542506;15861517;15516325;15489334;14660436;14574404;12477932;12131877;11967953;11865031;11807867;11642720;11580864;11564221;9950587;8630036;2263636;1427904;19584291;19935299;20021689;20379614;7811286;20734064;21704030;21319131;22844442 653 B4E0Y4;M9VUD0;P22003 ABBA01050502;ABBA01050503;ABBA01050504;AK291559;AK303576;AL133386;AL137178;AMYH01016363;AMYH01016364;BC027958;CH471081;KC485577;M60314;NM_021073;S81957 AAA36736;AAH27958;AGJ83825;BAF84248;BAG64596;EAX04447;NP_066551;P22003 Hs.296648 1340791;1661606;1663362;1694206;1718573;1794802;1851199;2169601 AL035197;D6S1276;D6S1661;PMC56999P1;RH122491;RH35693;RH71440;STS-M60314 MGC34244 BMP-5;OTTHUMP00000016650;bone morphogenenic protein-5;bone morphogenetic protein 5 APPROVED protein-coding 1072 00210 112265 REVIEWED 1353972 BMPR1APS1 bone morphogenetic protein receptor, type IA pseudogene 1 6 q22.33 129478671 129480265 - 10051328 100421515;359949 AL669984;AMYH01016664;NG_025866 pseudo 21742 INFERRED 1351193 BMPR1APS2 bone morphogenetic protein receptor, type IA pseudogene 2 11 q24.1 121232562 121233631 - 100533800;359950 ABBA01031305;AMYH01004092;AP002959;NG_028805 pseudo 21743 INFERRED 1350211 BMP8A bone morphogenetic protein 8a 1 1 1 p34.3 38238694 38277383 + 39729905 39768128 + 39957318 39995541 + 1580863;6480464;6907045 16710414;14702039;12477932;20237496;20424473 353500 Q7Z5Y6;Q9H7R1 AA732526;ABBA01023208;ABBA01023209;AK024413;AK127199;AL365277;AMYH01000521;AMYH01000522;AY303954;BC093743;BC112044;BC131617;BU616301;CH471059;NM_181809 AAH93743;AAI31618;AAP74559;BAB14915;BAC86882;EAX07272;EAX07273;NP_861525;Q7Z5Y6 Hs.472497 1678043;1686260;1704972;1729734;2180677;2220574;5015861;5016781;5037552;7185938 AL010109;D10S16;D1S168;D8S2279;RH76261;RH93165;SHGC-67307;SHGC-77986;UniSTS:485525 FLJ14351;FLJ45264 BMP-8A;OTTHUMP00000010046;bone morphogenetic protein 8A protein-coding 21650 16555 VALIDATED 1353706 BMP8B bone morphogenetic protein 8b The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has led to speculation of possible bone inductive activity. [provided by RefSeq, Jul 2008] 1 1 1 p35-p32 38505667 38535974 - 39996490 40027120 - 40223903 40254533 - 6480464;6907045 16710414;16314833;15063762;12477932;11427739;10894154;9070944;7757816;1460021;21145461;17474147;20379614;20734064 656 E7EMY8;P34820 ABBA01023201;AL033527;AL049824;AMYH01000524;AMYH01000525;AMYH01000526;AMYH01000527;AMYH01000528;AMYH01000529;AY303955;BC023526;BC108678;BQ888513;CH471059;F07575;NM_001720 AAI08679;AAP74560;EAX07254;NP_001711;P34820 Hs.734367 1686260;1729734;1797328;2180677 AL010109;BMP8B_2501;D1S168;RH93165 BMP8;MGC131757;OP2 BMP-8;BMP-8B;OTTHUMP00000010836;bone morphogenetic protein 8 (osteogenic protein 2);bone morphogenetic protein 8B;dJ118J21.1 (bone morphogenetic protein 8 (osteogenic protein 2));osteogenic protein 2 APPROVED protein-coding 1075 03792 602284 REVIEWED 730832 BMP4 bone morphogenetic protein 4 The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. This particular family member plays an important role in the onset of endochondral bone formation in humans, and a reduction in expression has been associated with a variety of bone diseases, including the heritable disorder Fibrodysplasia Ossificans Progressiva. Alternative splicing in the 5' untranslated region of this gene has been described and three variants are described, all encoding an identical protein. [provided by RefSeq, Jul 2008] 14 14 q22-q23 53486204 53493304 - 54416454 54423554 - 734648;1580863;2289025;2289037;1643593;1643597;1643592;2289003;2289004;2289006;629544;1643589;1643590;1643225;1643229;2296026;6480464;6484113;6907045;7240710 8678932;10701160;16651391;16488995;17286956;16519147;16818050;16730912;16420416;12552124;17644140;17004110;17696121;16447265;12782598 21072679;22167620;22241220;22396540;22170598;14749725;18775317;9804553;17472960;11502704;9389648;19453261;19450561;19407504;19321257;19269967;19249007;19240369;19213939;19158083;19011631;18818419;18787191;18771417;18720384;18683889;18664625;18643848;18632632;18596037;18587495;18551993;18537141;18436533;18400943;18385288;18369157;18365875;18326817;18319260;18317771;18305125;18292231;18252212;18076106;18029192;18021008;17989347;17967130;17850776;17847004;17785623;17696196;17640799;17624341;17570215;17556598;17516553;17429723;17350185;17343268;17275810;17272306;17262821;17255107;17253944;17189614;17015616;17003840;17003113;16769910;16719933;16604289;16542506;16514669;16373339;16341674;16195406;16126463;15861517;15777683;15775969;15591037;15516492;15516325;15489334;15388638;15231748;15186723;15173106;15102076;15039429;15020244;14973287;14672349;14660436;12897139;12865307;12766166;12702499;12606287;12531697;12477932;12445813;12404109;12235106;12163415;12141440;12064918;11867524;11771659;11706034;11642720;11472891;11441185;11427739;11282024;11241215;11156467;10894154;10809227;10706139;10657699;10457277;9701626;8889548;8702914;8645259;8146069;7811286;7673243;7644468;7579580;7558046;12054672;12019147;3201241;8006002;22076569;11260715;23079991;22383492;22191848;22158048;20619754;20480203;21228692;10021330;11023873;12045205;12631064;15451575;16816361;17118062;17244894;17600318;17708801;17992660;18437684;19473100;19488929;19557432;19661459;19685083;19763374;19799789;19814781;19816200;19819988;19839778;19914800;19915575;19923894;20023658;20054823;20057906;20144598;20146882;20157553;20437058;20546278;8674409;8752214;9187146;19950207;20573231;12421925;17720811;20001220;17207965;20734064;20844743;20949628;21034624;22610502;20506112;21054789;20730570;21050181;19913121;20505824;20628086;20628624;20634891;20659471;20668459;20672350;21152263;20182795;20682677;20931521;21128211;21186333;20858598;20486775;21456062;22535375;12399320;17850284;21704030;20705941;21092609;21362572;21670081;21674241;22988237;21655089;21340693;21565626;11865031;22210872;21673106;22052794;22118688;21868759;21906983;23386650;23388637;23454123;23493551;22064324;21855631;22019704;22103619;22209843;22105615;21927809;22350792;22392094;22514733;22158624;22447857;20301552;22700770;23161572;22641693;22971142;22698853;22886282;22899288;22736943;22504665;23010644;23259602;23243277 652 H0YLW3;H0YM53;H0YMP9;P12644;Q53XC5 ABBA01018188;AF035427;AF035428;AF210053;AL138479;AMYH01005742;BC020546;BQ083000;BU683974;BX161385;BX161438;CH471061;D30751;EU518936;HB975907;M22490;NG_009215;NM_001202;NM_130850;NM_130851;U43842 AAA51835;AAC72278;AAH20546;ABW03634;ACB21039;ADQ32405;BAA06410;CAD61876;CAD61909;CBE74713;EAW80628;EAW80629;EAW80630;EAW80631;NP_001193;NP_570911;NP_570912;P12644 Hs.68879 1648777;1777240;1795440;2178138;2179903;2191729;5492305 BMP4_296;Bmp4;G15892;MARC_5761-5762:996690803:2;RH47295;RH66828;SHGC-57004 BMP2B;BMP2B1;MCOPS6;OFC11;ZYME BMP-2B;BMP-4;OTTHUMP00000178992;bone morphogenetic protein 2B;bone morphogenetic protein 4 APPROVED protein-coding ENSG00000125378 1071 00207 112262;600625;607932 REVIEWED 1348383 BMS1P1 BMS1 pseudogene 1 10 10 q11.22 46174281 46182762 - 46737612 46762892 - 16344560;11779832 728053 ABBA01013319;AL450334;AL603982;AMYH01002612;AMYH01002613;AMYH01002614;AMYH01002615;DA245014;NR_026566 Hs.571994;Hs.711898 BMS1LP1;bA556L1.3 bms1l pseudogene 1 pseudo ENSG00000204177 23649 PROVISIONAL 1344234 BMP7 bone morphogenetic protein 7 The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development and possible bone inductive activity. [provided by RefSeq, Jul 2008] 20 20 q13 55178962 55274708 - 55743809 55841707 - 1580863;1643589;2289029;2289030;2289031;2289041;1643225;2289034;1601494;2289039;1643590;2289032;2289033;2289036;2289037;2289038;6480464;6484113;6907045 17644140;17895257;17656261;15861517;9626398;17696121;9808158;16284088;16034630;17004110;15277215;12539225;17437042;16651391;16549155 12478285;12667445;14679171;11502704;18436533;9311995;16049014;14517293;19453261;19283074;19240369;19116903;19112509;18980801;18978678;18621057;18560367;18514338;18496506;18465455;18393351;18349123;18328806;18292470;18259822;18032587;18029192;17909016;17724140;17624341;17530716;17530715;17522432;17497692;17478078;17415633;17264867;17262821;17018615;17003840;16899516;16846353;16831023;16807538;16719933;18508541;16686760;16646979;16419056;16344560;16126463;15994952;15929982;15574511;15489334;15100360;15020244;14981086;14751565;14702039;14660436;14623234;14587033;12925612;12919879;12811818;12792780;12741987;12740218;12734180;12594282;12478660;12477932;12385776;11780052;11769973;11472891;11401538;10912525;9872992;9748228;8889548;8605097;8570652;8297380;8006002;7791754;7560881;2357959;2263636;1427904;11438941;22318606;22447022;23243027;22048752;22525892;20506283;21738478;12631064;17244894;18184661;18437684;19056781;19108831;19180920;19301001;19396502;19403392;19453255;19597895;19725097;19816049;19846067;20085912;20093492;20126477;20237496;20424473;20546278;9693150;20540029;21224856;19950204;20530416;20734064;21110425;20445470;20656331;20670444;20573231;20632031;19913121;20188872;20628086;20677014;20887146;16325379;20682677;20952383;20932341;21305726;21765909;22720873;23132958;22778550;23126427;22674456;22212474;21896235;21485009;21080950;21591998;21317922;21644225;21506685;21609526;19850743;21898381;11580864;19736306;22209770;21458096;21842277;21924665;22209843;22490392;23455153;21447156;21906983;17977014;22124112;22118688;22253716;22305102;22140272;22244873;21935711;21913019;23179403;23386650;18160010;22795855;22958403;23046931;22099397 655 A8K571;B1AKZ9;B1AL00;H0Y4B5;P18075 ABBA01052919;ABBA01052920;ABBA01052921;AF210054;AF289090;AK094784;AK291186;AK312419;AL122058;AL157414;AMYH01012008;BC004248;BC008584;BM683430;CH471077;CQ786476;CS150682;CS237122;CS279049;CS284582;CS410513;CS455741;CS670983;DA740733;EU679366;GM868923;HC190935;M60316;NG_032771;NM_001719;X51801 AAA36738;AAF97256;AAG43508;AAH08584;ABM82420;ABM85611;ABW03413;ACD50899;BAF83875;BAG35329;CAA36100;CAG17752;CAJ29673;CAJ47525;CAJ86525;CAJ98562;CAL47728;CAL85403;CAP07469;CAV07685;CBI69260;EAW75529;EAW75530;EAW75531;NP_001710;P18075 Hs.473163 1674555;1685732;1718157;1788182;1797326;2143144;2145917;2167457;5015961;5022450;5022588;5037552 BMP7_1982;Bmp7;D10S275;D15S1477;D5S1597E;D8S2279;RH122846;RH66106;RH78681;RH92030;SHGC-11943;Z94370 OP-1 BMP-7;OTTHUMP00000031357;OTTHUMP00000166092;OTTHUMP00000166093;OTTHUMP00000166094;bone morphogenetic protein 7;osteogenic protein 1 APPROVED protein-coding ENSG00000101144 1074 00212 112267 REVIEWED 1345179 BMS1P2 BMS1 pseudogene 2 10 10 q11.22 46650101 46661940 - 47225563 47243511 - 15146197;16344560;11779832 414216 ABBA01017234;AK094691;AL391137;AMYH01002404;AMYH01002405;AMYH01002406;AMYH01002407;AMYH01002408;BC008503;BC041413;BC051298;BG474237;CD684353;CN417542;CN417548;DA115686;NR_072978 Hs.463017;Hs.711898 2111133 D10S500E BMS1LP2 bms1l pseudogene 2 pseudo 23650 VALIDATED 1347648 BMS1P3 BMS1 pseudogene 3 10 10 10 q23.2 82755010 82763193 + 88741990 88750172 + 88752010 88760192 + 414217 ABBA01033689;AL136982;AMYH01002903;NG_006111 BMS1LP3 bms1l pseudogene 3 pseudo 23651 INFERRED 1604514 BMPER BMP binding endothelial regulator This gene encodes a secreted protein that interacts with, and inhibits bone morphogenetic protein (BMP) function. It has been shown to inhibit BMP2- and BMP4-dependent osteoblast differentiation and BMP-dependent differentiation of the chondrogenic cells. Mutations in this gene are associated with a lethal skeletal disorder, diaphanospondylodysostosis. [provided by RefSeq, Dec 2011] 7 7 7 p14.3 33926362 34175842 + 33911048 34162009 + 33944523 34195484 + 6480464 22474252;18787191;15489334;14766204;14702039;12897139;12690205;12477932;11853319;20869035;16344560;21990102;22020334;22772758;22778264 168667 C9JY72;F8WDG9;G5E9K4;Q8N8U9 AACC02000103;AB075845;ABBA01056873;ABBA01056874;ABBA01056875;AC007350;AC010002;AK289963;AMYH01017166;AMYH01017167;AMYH01017168;AY324650;BC060868;BX380517;DB322218;NG_031933;NM_133468 AAH60868;AAP89012;BAB85551;BAF82652;EAL24468;NP_597725;Q8N8U9 Hs.660998 1341079;1671835;1677680;1718947;1755911;1759165;1786456;2120881;2151161;2153809;2183873;5022679 BMPER;D7S1421;D7S2373;D7S683;G16044;RH123180;RH48328;RH79923;SHGC-142745;SHGC-172305;SHGC-3490;WI-14030 CRIM3;CV-2;CV2 BMP-binding endothelial regulator precursor protein;BMP-binding endothelial regulator protein;OTTHUMP00000158859;bone morphogenetic protein-binding endothelial cell precursor-derived regulator;crossveinless 2;crossveinless-2;hCV2;protein crossveinless-2 APPROVED protein-coding ENSG00000164619 24154 16368 608022;608699 REVIEWED 734372 BMPR1A bone morphogenetic protein receptor, type IA The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008] 10 10 q22.3 88506376 88674925 + 88516396 88684945 + 1580863;734650;1600589;1600590;1600591;5129472;6480464;6484113;6907045;7240710 11536076;11381269;16525031;16685657;19324947 12065756;18436533;15621726;16886151;9389648;8397373;17356069;18937504;18823382;18667463;18510548;18262054;18178612;18160401;17873119;17624341;17573831;17513295;17101085;17081983;16672363;16436638;16436528;16226113;15940369;15489334;15351706;15252450;15235019;12630959;12620973;12477932;12417513;12136244;12135884;11438941;11401330;11282024;11278302;11263668;11241215;11139569;10881198;10850425;10712517;10504300;10051328;9950587;9730621;9663660;9547239;9525338;8707881;8702914;8605097;8592941;7791754;8006002;10880444;10692589;9738003;15148321;22293501;22710174;11580864;15064755;15657086;16385451;18184661;19244313;19453261;19463221;19502417;19773747;20346360;7644468;19438883;20587070;21152263;16341674;16613856;20634891;20693682;20734064;20301642;20927405;20843829;21412070;20673479;21543859;21640116;20360068;21258932;21791611;21872883;22623531;11266516;16198295;19953087;21139048;21906983;21987572;22519633;22939624;23000965;22210872;12857866;15611116;22971142;22886282;19758997;20663871;9136927;23399955 657 P36894 AB451405;ABBA01033683;ABBA01033684;ABBA01033685;ABBA01033686;ABBA01033687;ABBA01033688;AC021036;AC025268;AC067750;AK291764;AMYH01002901;BC028383;BM819272;CH471142;DQ786215;HI961666;NG_009362;NM_004329;Z22535 AAH28383;ABM82450;ABM85640;BAF84453;BAG70219;CAA80257;CBY84973;EAW80320;NP_004320;P36894 Hs.524477 1651848;1667410;1675027;1676940;1685229;1699860;1730405;1764371;1765095;1795442;5113823 BMPR1A_487;D10S1454;D10S1551E;D10S231E;RH103537;RH70975;RH80090;RH93276;SHGC-147966;SHGC-148622;STS-N27448 10q23del;ACVRLK3;ALK3;CD292;SKR5 ALK-3;BMP type-1A receptor;BMPR-1A;OTTHUMP00000020014;activin A receptor, type II-like kinase 3;activin receptor-like kinase 3;bone morphogenetic protein receptor type-1A;bone morphogenetic protein receptor, type 1a;serine/threonine-protein kinase receptor R5 APPROVED protein-coding ENSG00000107779 1076 03192 174900;601299;610069 REVIEWED 1354405 BMPR1B bone morphogenetic protein receptor, type IB This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 4 4 q22-q24 95898151 96295099 + 95679128 96079601 + 1334470;1600593;1580863;5129472;5129470;6480464;6484113;6907045;7240710 14523231;15805157;19324947;18292470 12065756;15621726;18436533;17356069;19513897;19453261;19451094;19135982;18773965;18619554;17624341;17381068;17363346;17203235;17001689;16436528;16014698;15897891;15761153;15489334;15235019;15192043;14576167;12477932;12419820;12135884;11781009;11483516;11420127;11401330;11312159;11282024;11279102;10850425;10712517;10504300;9950587;9872992;9730621;9525338;9178898;8707881;8702914;8605097;8140412;7811286;18758450;7791754;8006002;15775969;10051328;20732626;22293501;11266516;15064755;18184661;19738052;20201926;20587070;21152263;20634891;20734064;20673479;19782107;21832049;19953087;20467438;21791611;12857866;22384028;21556765;22294741;22374147;15611116;22971142;19758997;9436979 658 A8KAE3;D6RAW8;D6RGW8;O00238 ABBA01063626;ABBA01063627;ABBA01063628;ABBA01063629;ABBA01063630;AC004061;AC092609;AC093634;AC105395;AK293008;AK299930;AK313642;AMYH01014406;AMYH01014407;AW299723;BC047773;BC069796;BC069803;CH471057;D89675;NG_009245;NM_001203;NM_001256792;NM_001256793;NM_001256794;U89326 AAC28131;AAH47773;AAH69796;AAH69803;BAA19765;BAF85697;BAG36400;BAG61763;EAX06060;NP_001194;NP_001243721;NP_001243722;NP_001243723;O00238 Hs.598475 1336908;1339981;1651281;1705916;1708198;1718743;1726439;1771947;1852562;1855047;2123750;2131954;2163680;2165139;2166465;2177437;5020841;5492363 D4S1045;D4S2278;D4S2380;G41993;G62599;MARC_8975-8976:1025019065:3;RH123060;RH70713;SHGC-24790;SHGC-51110;SHGC-51118;SHGC-51758;SHGC-59827;SHGC-67739;SHGC-78087;SHGC-79355;SHGC-9264;SHGC4-1504 ALK-6;ALK6;CDw293 BMP type-1B receptor;BMPR-1B;OTTHUMP00000161621;OTTHUMP00000161622;OTTHUMP00000219359;OTTHUMP00000219880;OTTHUMP00000219882;activin receptor-like kinase 6;bone morphogenetic protein receptor type-1B;serine/threonine receptor kinase APPROVED protein-coding ENSG00000138696 1077 04457 112600;603248;609441 REVIEWED 1351957 BMS1P4 BMS1 pseudogene 4 10 10 10 q22.2 68742221 68773594 - 75146848 75160272 - 75458909 75490272 - 12477932;11779832 729096 ABBA01020313;AC022400;AC073389;AK294783;AMYH01002828;BC046139;BC063124;BC099910;BX955228;CH471083;NR_026592 BAG57908;EAW54513 Hs.709171 5015861;5037552;5114334;7185938 D10S16;D8S2279;RH25401 BMS1LP4 pseudo ENSG00000242288 23652 PROVISIONAL 1348554 BMS1P5 BMS1 pseudogene 5 10 10 q11.22 48547379 48572483 - 48927373 48952629 - 6480464 12477932;11779832 399761 ABBA01000699;ABBA01006723;ABBA01006724;AK307333;AL731733;AL832069;AMYH01002569;AMYH01002570;AMYH01002571;AMYH01002572;AMYH01002573;BC017177;BC024278;BC065722;BC131568;BX641006;CR936774;NR_003611 Hs.711898;Hs.743373 5016832;5020740;5021228;5021872;5022578;5022651;5037552;5096328;5107782;5111598;5115168;5124345;5128005 D11S2921;D1S1423;D1S3475;D8S2279;GDB:312794;L17809;RH40140;RH48185;RH65856;SHGC-153454;SHGC-37191;WI-15534;sY3084 BMS1LP5 bms1l pseudogene 5 pseudo ENSG00000204164 23653 PROVISIONAL 1343586 BMS1P7 BMS1 pseudogene 7 10 10 q11.22 48926216 48942436 - 49258300 49268060 - 11779832 100133265 AC245041;AL603966;AMYH01002429;NG_011418 BMS1LP7;KIAA0187;bA164N7.1 pseudo 23655 INFERRED 735373 BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, Jul 2008] 2 2 q33-q34 202949916 203140719 + 203241050 203432474 + 1580076;1580077;1580863;5129488;5129474;5129239;5129472;5129486;5129230;5129237;5129470;5129473;2289041;5129238;6480464;5135278;6484113;6907045;7240710 15775752;16361357;9080432;18663089;19785764;19324947;10996456;21070126;20534176;18292470;18723761;9626398;20002458;21521772 7791754;17624341;17576816;17515463;17472960;17363346;17322283;17318011;17277049;17203235;17102831;16982201;16782755;16717148;16615932;16436528;16429403;16429395;16344560;16339917;16339782;16155937;16122479;16002577;15965979;15824058;15699281;15687131;15591269;15516492;15492256;15489334;15358693;15354178;15295086;15235019;15146475;15055271;15031260;14702039;14676131;14583445;12963706;12543773;12477932;12415595;12358323;12221115;12135884;11714695;11686884;11484688;11401330;11115378;11015450;10973254;10964520;10903931;10880444;10712517;10051328;9525338;9193425;9054941;8707881;8702914;8592941;7890683;15188402;15621726;18436533;12045205;15657086;18364108;11502704;17356069;19531247;19453261;19424179;19390056;19357154;19307479;19206171;19195606;19059957;19051722;18792970;18647753;18621057;18503968;18496036;18436795;18356561;18342887;18321866;18221724;18187665;18159113;17700526;17641158;7673243;7644468;16282533;10504300;22048752;12819188;17992660;19223935;19552837;19578724;19628780;19634078;19782107;19844076;19864167;19913121;20011660;20096498;20346360;20379614;21030519;20587070;20410205;20734064;21152263;19265191;20955454;20870717;20634891;21311592;22988237;21821917;22129439;22923661;21622843;21801371;21808054;19366699;21900206;21962132;23000965;16198295;21139048;22293501;22341419;23079343;21898662;22312021;20301658;22684006;23115311;23263486;23142694;20663871;22632830;22961979;22923421;23080069;22894880 659 Q13161;Q13873 ABBA01062560;ABBA01062561;ABBA01062562;ABBA01062563;ABBA01062564;ABBA01062565;ABBA01062566;ABBA01062567;ABBA01062568;ABBA01062569;ABBA01062570;ABBA01062571;ABBA01062572;ABBA01062573;ABBA01062574;ABBA01062575;ABBA01062576;AC009960;AC064836;AC073410;AK023426;AK093832;AK123579;AK292430;AMYH01011408;AMYH01011409;AMYH01011410;AMYH01011411;AY277593;BC018743;BC032011;BC035097;BC041039;BC043650;BC052985;BF063564;BG530017;BQ889263;BQ896556;BU176845;C15977;CH471063;D50516;DA787547;DB233604;NG_009363;NM_001204;U20165;Z48923 AAC50105;AAH52985;AAQ18032;AAX76517;AAX88941;AAY24146;BAA09094;BAF85119;CAA88759;EAW70309;EAW70310;NP_001195;Q13873 Hs.471119 1665836;1666030;1670131;1689049;1751007;1769397;1797330;1854354;1856984;2114657;5016478 BMPR2_2375;D2S2918;G31437;G31877;GDB:434012;RH48774;RH69577;RH69994;RH94008;SHGC-104910;SHGC-57059 BMPR-II;BMPR3;BMR2;BRK-3;FLJ41585;FLJ76945;PPH1;T-ALK BMP type II receptor;BMP type-2 receptor;BMPR-2;OTTHUMP00000164984;OTTHUMP00000164985;bone morphogenetic protein receptor type II;bone morphogenetic protein receptor type-2;bone morphogenic protein receptor, type ii (serine/threonine kinase);type II activin receptor-like kinase;type II receptor for bone morphogenetic protein-4 APPROVED protein-coding ENSG00000204217 1078 02880 178600;265450;600799 REVIEWED 1345685 BMS1 BMS1 homolog, ribosome assembly protein (yeast) This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16, and 22.[provided by RefSeq, Mar 2009] 10 10 10 q11.21 39281288 39333715 + 42598265 42646856 + 43277954 43330385 + 1580863;6480464;6907045 19204726;16344560;15635413;15489334;12477932;11790298;11779832;11565749;10942432;8724849;21685912;19615732;18029348;19596686;19850743;19471022;21139048;21693764;21906983;21907836;22586326;22952844 9790 Q14692 ABBA01049992;ABBA01049993;AI184520;AI718109;AK308420;AL022344;AMYH01002282;BC043345;BC150252;BX485446;CH471160;D80009;DB064246;NM_014753 AAH43345;AAI50253;BAA11504;EAW86571;EAW86572;EAW86573;NP_055568;Q14692 Hs.10848 1678147;2109089;5114334 BMS1L_8992;RH15653;RH25401 BMS1L;KIAA0187 BMS1-like, ribosome assembly protein;OTTHUMP00000019477;bms1-like, ribosome assembly protein (yeast);ribosome assembly protein BMS1 homolog;ribosome biogenesis protein BMS1 homolog APPROVED protein-coding 23505 10689 611448 REVIEWED 1346721 BMS1P6 BMS1 pseudogene 6 10 10 q11.22 47805668 47819293 + 48185839 48203788 + 11779832;12477932;14702039 642826 AK094691;AL591684;AMYH01002428;BC008503;BC041413;BC051298;DB072344;NR_024495 Hs.463017;Hs.711898 2111133;5021228;5022578;5037552;5111598 D10S500E;D1S1423;D8S2279;GDB:312794;RH65856 BMS1LP6;bA302K17.2 pseudo 23654 VALIDATED 1319162 BNC1 basonuclin 1 The protein encoded by this gene is a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. This gene seems to have multiple alternatively spliced transcript variants, but their full-length nature is not known yet. There seems to be evidence of multiple polyadenylation sites for this gene. [provided by RefSeq, Jul 2008] 15 15 q25.2 81715659 81744472 - 83924655 83953468 - 1580863;6480464 9099851;1332044;8034748;16891417;15146197;12477932;11076863;10839715;10524234;10462520;10449744;9727087;9687312;9223293;9151672;15694340;21741828;11802773 646 F5GY04;Q01954 ABBA01029436;ABBA01029437;AC103876;AI921950;AK302992;AMYH01006859;AMYH01006860;CH471188;CN260997;L03427;NM_001717;U59692;U59693;U59694 AAA35584;AAB53028;AAI11599;BAH13871;EAW62424;NP_001708;Q01954 Hs.459153 2142250;2219036 BNC1__4457;D15S670 BNC;BSN1;HsT19447 OTTHUMP00000190870;zinc finger protein basonuclin;zinc finger protein basonuclin-1 APPROVED protein-coding ENSG00000169594 1081 11799 601930 REVIEWED 1348562 BNIP3P1 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1 14 14 14 q12 8599094 8600625 + 27803285 27805017 + 28733635 28735166 + 319138 ABBA01061372;AL139023;AMYH01005627;NG_002516 1683401;2123419;2142467 RH70571;RH71202;RH80015 BNIP3P APPROVED pseudo 19922 INFERRED 5128958 BNIP3P2 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 2 22 16627944 16628475 - 100421754 ABBA01001476;AMYH01012401;AP000540;NG_027406 pseudo 39655 INFERRED 5128959 BNIP3P3 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 3 18 15247455 15247983 - 100421736 AMYH01008873;AP005901;NG_026278 pseudo 39656 INFERRED 5128993 BNIP3P4 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 4 9 q21.11 69823284 69823839 - 100289028 ABBA01148606;AL359955;AMYH01021298;NG_021623 pseudo 39657 INFERRED 5128962 BNIP3P5 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 5 15 15 19373573 19374288 + 42605882 42606585 + 100421724 ABBA01038379;AC022468;AMYH01006580;NG_025378 pseudo 39658 INFERRED 5128995 BNIP3P6 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 6 14 14 q11.2 18260626 18265750 + 19195192 19195723 + 16311020 100129777 CR383658;NG_022850 pseudo 39659 INFERRED 1605440 BMX BMX non-receptor tyrosine kinase This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Sep 2009] X X p22.2 15428821 15484573 + 15518900 15574652 + 6480464 12370298;11877430;8650201;16186805;17474147;9520419;7970727;18029348;19464057;18413754;18402776;18292575;18196928;18025155;17823122;16932810;16912182;15489334;15342556;15207703;14981536;14676838;14532277;12573241;12477932;11751885;11382770;11331870;11278797;11013262;10962576;10688651;10196179;9373245;9323053;8790141;16025104;22449076;21339702;20056178;20206622;20864667;20559570;19951526;21481791;22974441;21408190;21471444;21832049;21906983;16273093;18303054;21988832;22939624 660 P51813 ABBA01071313;ABBA01071314;ABBA01071315;ABBA01071316;ABBA01071317;ABBA01071318;ABBA01071319;AC097625;AF045459;AK291824;AK313568;AMYH01022107;BC016652;BP236451;BQ226991;CB998198;CH471074;NG_013227;NM_001721;NM_203281;U08341;X83107 AAA17744;AAC08966;AAH16652;ABM81985;ABM87813;BAF84513;BAG36341;CAA58169;EAW98889;EAW98890;NP_001712;NP_975010;P51813 Hs.495731 1342221;1702438;1703124;1734270;2156084;2159856;2162475;2171151;7186352 D4S2464E;DXS1053;DXS7016;DXS7320;DXS7664;DXS7970;DXS7972;SHGC-24715 ETK;PSCTK2;PSCTK3 BTK-like on X chromosome;Etk/Bmx cytosolic tyrosine kinase;NTK38 tyrosine kinase;OTTHUMP00000022964;OTTHUMP00000022965;OTTHUMP00000022966;bone marrow tyrosine kinase gene in chromosome X protein;cytoplasmic tyrosine-protein kinase BMX;epithelial and endothelial tyrosine kinase APPROVED protein-coding ENSG00000102010 1079 02111 300101 REVIEWED 1321747 BNC2 basonuclin 2 9 9 p22.2 16399501 16860786 - 16409501 16870786 - 6480464 18519826;20881960;16942855;16891417;16344560;15081112;14988505;14702039;12477932;15949438;18029348;19648919;19670330;19875614;20379614;20852632;19913121;20585627;20628086;21294870;21368915;21750727;21642636;21903422;19471022;23052946 54796 B1APH0;F5H586;H0Y4J1;H0Y6W5;Q6ZN30 ABBA01065255;ABBA01065256;ABBA01065257;ABBA01065258;ABBA01065259;ABBA01065260;AK000050;AK025882;AK092247;AK131398;AK299073;AK304745;AL162418;AL449983;AL450003;AL450105;AMYH01019254;AMYH01019255;AMYH01019256;AMYH01019257;AW188023;AY438376;BC037160;BX641030;CR933649;DA494074;DB282126;DQ884933;DQ884934;DQ884936;DQ884937;DQ884938;DQ884939;DQ884940;DQ884941;DQ884942;DQ884944;DQ884945;DQ884946;DQ884947;DQ884948;NM_017637;R69412 AAI56478;AAI72513;AAR99389;ABI78982;ABI78983;ABI78984;ABI78985;ABI78986;ABI78987;ABI78988;ABI78989;ABI78990;ABI78991;ABI78992;ABI78993;ABI78994;ABI78995;BAA90908;BAB15269;BAC03837;BAD18545;BAG61139;BAG65504;CAI45950;NP_060107;Q6ZN30 Hs.656581;Hs.693436;Hs.740070 1335204;1342375;1689819;1703926;1724771;1728153;1751125;1751659;1763197;1764609;1779458;1788932;2160866;2183737;2187543 D16S3069;D9S1089;D9S1839;G63499;RH122592;RH48002;RH92550;SHGC-104991;SHGC-105641;SHGC-146925;SHGC-148199;SHGC-153441;SHGC-83634;STS-H97910;UniSTS:224603 BSN2;DKFZp686A01127;FLJ20043;FLJ34928 OTTHUMP00000021079;OTTHUMP00000125286;OTTHUMP00000126958;zinc finger protein basonuclin-2 protein-coding ENSG00000173068 30988 12274 608669 VALIDATED 1319009 BNIP2 BCL2/adenovirus E1B 19kDa interacting protein 2 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. [provided by RefSeq, Mar 2011] 15 15 q22.2 57742356 57768778 - 59955061 59981642 - 634550;1580863;6480464;7240533 7954800;20626350 10799524;10381623;17961507;16189514;15652341;15489334;12944407;12901880;12477932;11744098;11741952;10954711;10551883;7478990;21130087;20704564;15923648;20677014;20855536;22863883;22623531;21139048;21890473 663 H7C096;H7C142;J3KN59;Q12982 ABBA01038956;ABBA01038957;AC092755;AK299628;AK308237;AMYH01006685;AY268590;BC002461;BX378770;CH471082;DC425485;NG_029765;NM_004330;U15173 AAC00021;AAH02461;AAP03429;ABM82882;ABM86068;BAG61556;EAW77575;EAW77576;NP_004321;Q12982 Hs.646490 1683162;1721427;1736498;1783248;1789805;2106963;2124801;2137189;2187032;5107615 BNIP2_7248;D15S1347;D15S703E;G59565;RH65383;SHGC-154946;SHGC-57103;STS-U15173;WI-7305;csnpbnip2-pcr1-1 BNIP-2;NIP2 BCL2/adenovirus E1B 19 kDa protein-interacting protein 2;OTTHUMP00000163602 APPROVED protein-coding 1083 04481 603292 REVIEWED 732440 BNIP1 BCL2/adenovirus E1B 19kDa interacting protein 1 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. In addition, this protein is involved in vesicle transport into the endoplasmic reticulum. Alternative splicing of this gene results in four protein products with identical N- and C-termini. [provided by RefSeq, Mar 2011] 5 5 5 q33-q34 168604859 168624796 + 172504051 172523996 + 172571445 172591390 + 2314029;634759;6480464 19641503;12714334 22020994;7954800;15272311;15489334;12477932;10217402;7478990;1332047;19064571;17207965;21832049;22318606;21139048;21906983;21931693;22306654;22639046 662 H0YBK7;Q6K044 ABBA01044028;AC008378;AF083956;AF083957;AF083958;AMYH01015823;AU311051;AY216799;AY246554;BC010959;BP384034;CH471062;NM_001205;NM_013978;NM_013979;NM_013980;U15172 AAC00020;AAC33124;AAC33125;AAC33126;AAH10959;AAO61090;AAO91805;ADQ32671;EAW61405;EAW61406;EAW61407;EAW61408;EAW61409;EAW61410;EAW61411;EAW61412;EAW61413;NP_001196;NP_053581;NP_053582;NP_053583;Q12981 Hs.145726 1652136;1795444;2183520 BNIP1_1465;D5S2469;SHGC-10682 NIP1;SEC20;TRG-8 BCL2/adenovirus E1B 19 kDa protein-interacting protein 1;OTTHUMP00000161077;OTTHUMP00000161078;OTTHUMP00000161079;OTTHUMP00000223580;transformation-related gene 8 protein;vesicle transport protein SEC20 APPROVED protein-coding ENSG00000113734 1082 04480 603291 REVIEWED 1350585 BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. This protein counteracts the apoptotic inducer BNIP3 and may play a role in tumor suppression. [provided by RefSeq, Mar 2011] 8 8 p21 26296440 26326561 + 26240523 26270644 + 1580863;2314029;6480464 19641503 22292033;10381623;9973195;19273585;18670647;18551130;18048346;17081983;16219518;16189514;15607964;15489334;14720367;12663450;12606722;12477932;11230166;10467396;9867803;9523198;16169070;19064571;20010802;20819778;21264228;17928295;21139048;21890473;21900206;22984526;23142642;22645275 665 B0AZS9;E5RFE9;H0YBC7;O60238;Q6IBV1 AA946755;AB004788;ABBA01005571;ABBA01005572;AC011726;AC022911;AF060922;AF067396;AF079221;AF255051;AF452712;AF536326;AK290213;AK300286;AK300727;AK307195;AK315870;AK316315;AL132665;AMYH01018593;BC001559;BC009603;BF337139;BQ719112;BT019500;BT019501;CD244492;CD558918;CH471080;CR456701;NM_004331 AAC27723;AAD03589;AAF70290;AAG43134;AAH01559;AAH09603;AAL50978;AAN04051;AAV38307;AAV38308;ACE86738;ACE87424;ADZ15845;BAA28692;BAF82902;BAF98761;BAG62043;BAG62400;BAH14686;CAG32982;CAI46217;EAW63576;NP_004322;O60238 Hs.131226 1658784;1666960;1699560;1723225;1739193;1770524;1771798 D8S1556;D8S1934;D8S2073;RH103380;RH122296;RH36518;STS-Z40756 BNIP3a;NIX BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like;BCL2/adenovirus E1B 19 kDa protein-interacting protein 3A;BCL2/adenovirus E1B 19-kd protein-interacting protein 3a;NIP3-like protein X;NIP3L;OTTHUMP00000125280;OTTHUMP00000225446;OTTHUMP00000225447;OTTHUMP00000225448;OTTHUMP00000225568;adenovirus E1B19k-binding protein B5 APPROVED protein-coding ENSG00000104765 1085 07288 605368 REVIEWED 1350913 BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. This protein contains a BH3 domain and a transmembrane domain, which have been associated with pro-apoptotic function. The dimeric mitochondrial protein encoded by this gene is known to induce apoptosis, even in the presence of BCL2. [provided by RefSeq, Mar 2011] 10 10 q26.3 133631194 133645425 - 133781204 133795435 - 634550;1580863;2314028;2314029;5128796;6480464;6484113 7954800;14972662;19641503;20157446 21210091;21293853;10381623;9396766;10891486;9973195;19339613;19273585;19088195;18838203;18728663;18551130;18371312;18359286;18163427;18092960;18059169;17928295;17786027;17729412;17638890;17638546;17600828;17576813;17576382;17394490;17360363;17255267;16803523;22505714;16799636;16765911;16357180;16219518;16217754;16189514;16169070;16002567;15856026;15709167;15560738;15489334;15328198;15289340;15164054;12879018;12690108;12477932;12215374;10625696;9867803;9575197;8125298;7478990;20436456;18029348;19505343;19535684;19641497;19668230;19690192;19956881;20026130;20082478;20100468;20201926;20437871;20637734;20978322;17207965;20855536;20973794;22455137;20368736;21573703;19593445;21152877;19799812;18476629;19060904;21988832;23000965;23160801;20963496;21792176;23142642;23209295;21318419;21409489;21711117;20801175;21911457;21139048;21906983;21963094;21987236;22302006;22292033;22173550;22458929;22639046 664 B4DHJ7;Q12983 ABBA01006172;AF002697;AK222626;AK295136;AL162274;AL732395;AMYH01003195;AY886764;BC009342;BC021989;BC067818;BC080643;CH471066;CQ975900;NM_004052;U15174 AAC00022;AAC16738;AAH21989;AAH67818;AAH80643;AAW62256;ADQ33204;BAD96346;BAG58159;CAI45349;EAW49143;NP_004043;Q12983 Hs.144873 1645003;1683401;1712080;1795446;2123419;2142467;5015881;5037552 BNIP3_1789;D8S2279;G54089;GDB:335751;RH70571;RH71202;RH80015;STS-R06072 NIP3 BCL2/adenovirus E1B 19 kDa protein-interacting protein 3;OTTHUMP00000020752 APPROVED protein-coding 1084 04482 603293 REVIEWED 2946885 BOK-AS1 BOK antisense RNA 1 2 2 q37.3 236152251 236166494 - 242483799 242498558 - 19287972 100379249 ABBA01006052;ABBA01006053;ABBA01006054;AC110299;AMYH01011633;FJ185168;NR_033346 Hs.621128 BOK-AS;BOKAS;NAToB;NCRNA00151 APPROVED miscrna 35125 PROVISIONAL 1345757 BOD1L2 biorientation of chromosomes in cell division 1-like 2 18 18 18 q21.31 51531573 51534919 + 52965284 52966839 + 54814293 54817639 + 737633;6480464 12477932 17938248;15489334 284257 B4DX39;Q8IYS8 ABBA01056127;AC100775;AK127964;AK301799;AMYH01009021;BC021740;BC035018;NM_001257964 BAG54606;BAG63251;NP_001244893;Q8IYS8 Hs.127882 1699774;2169609 D5S2321;RH103493 BOD1P;FAM44C;MGC33608 biorientation of chromosomes in cell division 1 pseudogene;biorientation of chromosomes in cell division protein 1-like 2;family with sequence similarity 44, member C;putative biorientation of chromosomes in cell division protein 1 pseudogene;putative biorientation of chromosomes in cell division protein 1-like 2;putative protein FAM44C APPROVED protein-coding ENSG00000228075 28505 VALIDATED 1348370 BOD1 biorientation of chromosomes in cell division 1 5 5 5 q35.2 169066406 169075924 - 172967146 172976262 - 173034148 173043666 - 737633;6480464 12477932 17938248;16344560;15489334;21832049;21890473;21906983;21963094;20881960 91272 C9J8U9;C9JNZ5;H7C5I4;Q96IK1 ABBA01044019;AC010339;AK301982;AMYH01015830;AY303777;BC003114;BC007436;BQ881883;CH471062;DA506589;DA953541;NM_001159651;NM_138369 AAH03114;AAH07436;AAP76182;BAG63390;EAW61396;NP_001153123;NP_612378;Q96IK1 Hs.425091 1848775;2147745;2169609 A002Q30;D5S2321;WI-12001 FAM44B OTTHUMP00000161101;OTTHUMP00000213248;biorientation defective 1;biorientation defective protein 1;biorientation of chromosomes in cell division protein 1;family with sequence similarity 44, member B protein-coding ENSG00000145919 25114 13309 VALIDATED 1605311 BOC BOC cell adhesion associated, oncogene regulated The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. [provided by RefSeq, Sep 2011] 3 3 3 q13.2 111339962 111414896 + 114414065 114488996 + 112931375 113006306 + 5510025;5490966;6480464;6484113 20844013;18772397 11782431;16647304;15520228;14702039;12975309;12720294;12634428;12477932;8889548;16169070;20053908;20306291;20519495;15923648;23259602 91653 C9J2L7;C9J7V2;C9J9M5;C9JZ38;H7C4U8;H7C5J2;Q96DN7;Q9BWV1 ABBA01061654;ABBA01061655;AC026329;AK056359;AK074556;AK090455;AK309055;AL133599;AMYH01013394;AY027658;AY358328;BC032071;BC034614;BC075829;BC136390;BM673254;BX647184;CH471052;NM_033254 AAH34614;AAI36391;AAK14795;AAQ88694;ADZ15974;BAB71163;BAC03436;BAC11057;EAW79643;EAW79644;EAW79645;EAW79646;NP_150279;Q9BWV1 Hs.591318 1681556;1689769;2111025;2157338 D3S1493E;RH126917;RH93384;SHGC-57979 CDON2 Boc homolog;OTTHUMP00000214765;OTTHUMP00000214766;brother of CDO;brother of CDON;cell adhesion associated, oncogene regulated 2 APPROVED protein-coding ENSG00000144857 17173 608708 VALIDATED 1319839 BNIPL BCL2/adenovirus E1B 19kD interacting protein like The protein encoded by this gene interacts with several other proteins, such as BCL2, ARHGAP1, MIF and GFER. It may function as a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 1 1 1 q21.3 124118004 124135383 + 149275658 149286699 + 151009029 151020076 + 6480464 12901880;11741952;12681488;17562024;16710414;16344560;16143817;15489334;15112343;14702039;12477932;9973195;20800603;20383146;22318606 149428 A2A492;F8W685;Q7Z465 ABBA01049367;ABBA01049368;AF193056;AK092595;AL590133;AMYH01001386;AY033000;AY078983;AY078984;BC027868;BC074779;BC074780;CD687603;CH471121;CU451236;DB202257;NG_029720;NM_001159642;NM_138278 AAG22484;AAH27868;AAH74779;AAH74780;AAK54348;AAL85483;AAL85484;EAW53483;EAW53484;NP_001153114;NP_612122;Q7Z465 Hs.591473 1674806;1697834;1701632;1735380;1770794;2170512;2187329;5037552 A004A12;D1S1855E;D1S2426;D8S2279;RH102442;RH104459;SHGC-57518;SHGC-57939 BNIP-S;BNIPL-1;BNIPL-2;BNIPL1;BNIPL2;BNIPS;PP753 BNIP-2 similar;OTTHUMP00000033115;OTTHUMP00000033116;OTTHUMP00000192926;bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein APPROVED protein-coding ENSG00000163141 16976 16557 611275 REVIEWED 1344806 BOD1L1 biorientation of chromosomes in cell division 1-like 1 4 4 4 p16.1 14036574 14095541 - 13179464 13238426 - 13570366 13629328 - 6480464 17081983;15489334;14702039;12477932;10718198;20379614;17370265;22108332;20972266;21139048;21628590;18654987 259282 F8WDD0;H0Y9Y2;Q8NFC6 AB037748;ABBA01032544;ABBA01032545;AC006445;AF528529;AK025361;AK025965;AK090534;AK122806;AK298130;AL137350;AL137652;AMYH01014007;AMYH01014008;BC016987;BC043603;BC065546;BC087835;BX648206;CH471069;NM_148894 AAH16987;AAH65546;AAH87835;AAI72451;AAM94279;BAA92565;BAB15299;BAG60410;CAB70705;EAW92716;NP_683692;Q8NFC6 Hs.444517 1341187;1647368;1664331;1696782;1739055;2124505;2132152;2132154;2144154;2175011 D4S1364;D4S2311;D4S259;D4S2669;D4S2702;D4S3194;RH16627;SHGC-36204;SHGC-51764;SHGC-82934 BOD1L;FAM44A;FLJ33215;KIAA1327 OTTHUMP00000115820;biorientation of chromosomes in cell division protein 1-like;biorientation of chromosomes in cell division protein 1-like 1;family with sequence similarity 44, member A APPROVED protein-coding ENSG00000038219 31792 08156 VALIDATED 737138 BOK BCL2-related ovarian killer The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011] 2 2 q37.3 242146865 242162226 + 242498146 242513553 + 70678;1580863;2313975;6480464;1624238 9356461;17322918;15964663 19287972;16772296;16302269;15868100;15775999;15489334;15102863;12477932;11034351;10811653;10579309;9535847;20171287;19942931;20673843;19095301;15146197;15342556;22623531;21900206;21906983 666 Q9UL32;Q9UMX3 ABBA01006054;ABBA01006055;ABBA01006056;AC110299;AC133528;AF174487;AMYH01011633;BC006203;BC017214;BG118500;BI550157;BP332256;BT007272;BU855574;BX372066;BX395656;BX460019;CD368092;CH471063;CN279174;CN279175;H17007;NG_029488;NM_032515 AAD51719;AAP35936;AAY14684;AAY14917;ABM84167;ABM87570;EAW71268;EAW71269;EAW71270;EAW71271;EAW71272;EAW71273;EAW71274;NP_115904;Q9UMX3 Hs.293753;Hs.734656 1682079;1690900;1740179;2126819;2153849 D2S2142;G42020;RH78529;RH80183;RH91690 BCL2L9;BOKL;MGC4631 OTTHUMP00000164606;bcl-2-like protein 9;bcl-2-related ovarian killer protein;bcl2-L-9;hBOK APPROVED protein-coding ENSG00000176720 1087 05657 605404 REVIEWED 1605757 BOLA2 bolA homolog 2 (E. coli) This gene is located within a region of a segmental duplication on chromosome 16p. The product of this gene belongs to the eukaryotic subfamily of the BolA-like proteins. This gene encodes the BolA-like protein 2. The BolA-like proteins are widely conserved from prokaryotes to eukaryotes, and these proteins seem to be involved in cell proliferation or cell-cycle regulation. [provided by RefSeq, Jul 2008] 16 16 p11.2 29362071 29373786 - 29464914 29466285 - 6480464 21145461;18548201;15489334;14718656;12665801;12477932;21628590;18781797;17620599;22505724 552900 Q9H3K6 AC133555;AF060511;AK027255;AK295153;AMYH01007494;BC022832;BC062756;BC104642;BC130401;BC130403;BC144688;BG032591;NM_001031827 AAG43129;AAH22832;AAI30402;AAI30404;AAI44689;BAG58169;NP_001026997 Hs.444600;Hs.655267;Hs.744243 5017266;5022450;5112199;5113701 D10S275;L18506;RH102308;RH76583 BOLA2A;My016 BolA-like protein 2;BolA-like protein 2 member A;bolA-like 2 APPROVED protein-coding ENSG00000183336 29488 613182 REVIEWED 1606296 BOLA1 bolA homolog 1 (E. coli) 1 1 1 q21 122987125 122988318 + 148137825 148138969 + 149871155 149872348 + 6480464 17353931;18029348;18548201;16964243;16710414;15489334;14718656;12477932;12107410;10810093;17207965;20877624;21832049;22746225 51027 Q9Y3E2 ABBA01049314;AC239868;AF151901;AK313014;AL591493;AMYH01001373;BC002771;BC063405;CA389141;CH471121;CS072310;NM_016074 AAD34138;AAH63405;ADQ33110;BAG35849;CAI12571;CAI93448;EAW53599;EAW53600;EAW53601;EAW53602;NP_057158;Q9Y3E2 Hs.13880 1660592;1853404;2133185;2183505 A003N45;RH18368;STS-Z40409;WI-16272 CGI-143;MGC75015;RP11-196G18.18;hBolA OTTHUMP00000013910;OTTHUMP00000013911;bolA-like 1;bolA-like protein 1 protein-coding ENSG00000178096 24263 13036 613181 VALIDATED 1605447 BOLA2B bolA homolog 2B (E. coli) This gene is located within a region of a segmental duplication on chromosome 16p. The product of this gene belongs to the eukaryotic subfamily of the BolA-like proteins. This gene encodes the BolA-like protein 2. The BolA-like proteins are widely conserved from prokaryotes to eukaryotes, and these proteins seem to be involved in cell proliferation or cell-cycle regulation. This duplicated region contains a complete copy of the short splice variant of the BOLA2 gene and a partial copy of the long splice variant of the BOLA2 gene. [provided by RefSeq, Jul 2008] 16 16 p11.2 30111757 30113128 - 30204256 30205627 - 12477932;15489334;14718656;12665801;21145461;22939629;17620599;21628590;22505724 654483 H3BPT9;H3BV85;Q9H3K6 ABBA01013099;AC106782;AMYH01007497;BC137532;BC137534;NM_001039182 AAI37533;AAI37535;AAI48565;AAI53145;NP_001034271;Q9H3K6 Hs.647333 BOLA2 BolA-like protein 2 member B;bolA-like 2B;bolA-like protein 2;bolA-like protein 2B APPROVED protein-coding ENSG00000169627 32479 REVIEWED 1606380 BOLA3 bolA homolog 3 (E. coli) This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011] 2 2 2 p13.1 74193755 74206266 - 74216036 74228547 - 74362528 74375039 - 6480464 18548201;15815621;14718656;12477932;20379614;21944046 388962 Q53S33;Q8N338 ABBA01075598;AC073263;AI652095;AMYH01010454;BC017744;BC028282;BC042036;BC046531;BU600037;CH471053;DQ225187;NG_031910;NM_001035505;NM_212552 AAH28282;AAI48672;AAI53209;AAX93059;ABB04094;EAW99699;EAW99700;NP_001030582;NP_997717;Q53S33 Hs.61472 2121215;2170420 SGC32756;WI-21646 MMDS2 OTTHUMP00000202551;OTTHUMP00000202552;bolA-like 3;bolA-like protein 3 APPROVED protein-coding ENSG00000163170 24415 14209 613183;614299 REVIEWED 5490477 BOLA3-AS1 BOLA3 antisense RNA 1 (head to head) 2 74375108 74379516 + 12477932;14702039;16344560 100507171 ABBA01075598;AC073263;AK123453;AMYH01010454;BC007916;BC008757;BC015635;BC030102;DA356576;NG_031910;NR_045634;NR_045636;NR_045637 Hs.503348 2170420 WI-21646 FLJ41459 APPROVED miscrna ENSG00000225439 42922 VALIDATED 1352689 BOLL bol, boule-like (Drosophila) This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 q33 198299856 198359183 - 198591603 198650938 - 1580863;6480464 16001084;12499397;11390979;19342699;18997786;17114206;15705409;15489334;15379971;15070965;15066460;14702039;12477932;8657280;12511597;17207965;19417033;19865085;21474125 66037 B4DZA4;F2Z2G3;F8WD91;Q8N9W6 ABBA01062490;AC011997;AF272858;AI424966;AK058099;AK093453;AK097795;AK098824;AK302817;AM295005;AMYH01011390;AMYH01011391;BC033674;CH471063;HC044489;NM_033030;NM_197970 AAH33674;AAK58689;AAX93045;ADQ32687;BAB71664;BAC04171;BAG64016;CAL25726;CBH30574;EAW70171;EAW70172;EAW70173;NP_149019;NP_932074;Q8N9W6 Hs.169797 1691260;1794698 PMC34683P2;RH98575 BOULE OTTHUMP00000163625;OTTHUMP00000163626;OTTHUMP00000163627;OTTHUMP00000205805;protein boule-like APPROVED protein-coding ENSG00000152430 14273 606165 VALIDATED 1347316 BPESC1 blepharophimosis, epicanthus inversus and ptosis, candidate 1 (non-protein coding) 3 3 3 q23 137249298 137266864 + 138823027 138844009 + 138823027 138844009 + 6480464 15489334;12477932;10995571 60467 Q9GZL8 ABBA01059065;ABBA01059066;AC069525;AF196864;AF196865;AMYH01013536;AMYH01013537;AMYH01013538;BC119686;BC119687;CH471052;NR_026783 AAG23726;AAG23727;EAW79046;Q9GZL8 Hs.512673 1696522 SHGC-83243 NCRNA00187 miscrna ENSG00000232416 13228 16559 VALIDATED 1605625 BORA bora, aurora kinase A activator BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008] 13 13 13 q22.1 54200530 54228790 + 72200043 72228329 + 73302042 73330328 + 6480464 19487276;18615013;18566290;18521620;18378770;16890155;15489334;15057823;14702039;12477932;11935316;16169070;19596235;19615732;20923822;23592782;22990118;20360068 79866 B4DQ30;H3BLY2;Q6PGQ7 ABBA01050335;ABBA01050336;AK026277;AK291496;AK298608;AK300758;AL138695;AMYH01005201;BC007119;BC025367;BC044213;BC056876;BM923278;BX648605;CH471093;EU834129;NM_024808 AAH07119;AAH25367;AAH44213;AAH56876;ACE86935;ACE86991;ACE87006;ACE87621;ACE87680;ACE87694;ACH72049;BAB15426;BAF84185;BAG60792;BAG62424;EAW80514;EAW80515;NP_079084;Q6PGQ7 Hs.643464 1662198;1677280;1738439;1739623;2126764;2169355;2176579;2180629 1730;D13S1090E;D13S1212E;RH15742;RH67956;RH92143;SHGC-34349;WI-20990 C13orf34;FLJ22624;RP11-342J4.2 OTTHUMP00000018495;aurora borealis;hsBora;protein aurora borealis APPROVED protein-coding ENSG00000136122 24724 13389 610510 VALIDATED 1352137 BPI bactericidal/permeability-increasing protein This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has bactericidal activity on gram-negative organisms. [provided by RefSeq, Jul 2008] 20 20 q11.23 36365966 36399319 + 36932552 36965905 + 1580079;1580863;6480464 15758620 8409400;2722846;19275920;17898994;17678885;17675509;17483073;17239348;17012258;16893388;16861658;16380496;16282362;15590754;15342556;15009116;14623259;12913926;12784398;12738651;12710851;12521224;12477932;11891303;11780052;11420435;11373419;9616176;9240454;9188532;8432532;8330906;7517398;3667613;2501794;20889312;19423540;19692168;19702878;20174761;20237496;20406964;20438785;20463618;20541026;20412700;17488601;19913121;20628086;21272798;22409502;21787345;21463973 671 A2A2A1;A2A2A2;H0Y738;Q9H203 ABBA01006644;ABBA01006645;ABBA01052519;ABBA01052520;ABBA01156452;AF322588;AI436120;AK296568;AK315328;AL359555;AL391095;AL391692;AL499625;AL583962;AMYH01011904;AX713278;AX746123;AX752831;BC032230;BC040955;BP306215;CH471077;CQ800679;DQ414688;J04739;NM_001725;Y14215;Y14216;Y14217;Y14218;Y14219;Y14220;Y14221;Y14222;Y14223;Y14224;Y14225;Y14226;Y14227;Y14228;Y14229 AAA51841;AAG42844;AAH40955;ABD66755;BAG37729;BAG59188;CAD88641;CAD97475;CAD99178;CAG28072;EAW76035;NP_001716;P17213 Hs.529019 1780442;1855187;2148258;2150649;2217072 BPI_2849;D20S1064;SGC32792;SHGC-12397;stbA2202H1A BPIFD1;rBPI BPI fold containing family D, member 1;CAP 57;OTTHUMP00000030962;OTTHUMP00000030963;bactericidal permeability-increasing protein;recombinant BPI holoprotein, rBPI APPROVED protein-coding ENSG00000101425 1095 00174 109195 REVIEWED 1316844 BPHL biphenyl hydrolase-like (serine hydrolase) This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug valacyclovir. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009] 6 6 p25 3064041 3098288 + 3118926 3153432 + 6480464 7759552;18256025;18163890;16316342;16028355;15832508;14574404;12732646;12477932;9721218;8889548;2393862;20237496;20877624;21890473 670 B4DML3;F2Z2Q1;H7C0M3;Q49AI2;Q86WA6 ABBA01048621;AJ001980;AJ617684;AK297518;AK314909;AL031963;AL832502;AMYH01016029;BC037778;BC106901;BM977067;CH471087;DC352501;NM_004332;NR_026648;NR_026649;NR_026650;X57653;X81372 AAH37778;AAI06902;BAG37421;BAG59925;CAA40859;CAA57137;CAE85120;EAW55119;EAW55120;EAW55121;EAW55122;EAW55123;NP_004323;Q86WA6 Hs.10136 1650686;1655909;2145691;2177581;2219038;5014063;5016781 BPHL__4461;D15S1390;D6S1890;D6S2134;RH46711;SHGC-35542;SHGC-67307 BPH-RP;MCNAA;MGC125930;MGC41865;VACVASE OTTHUMP00000015958;OTTHUMP00000211210;biphenyl hydrolase-like protein;biphenyl hydrolase-related protein;breast epithelial mucin-associated antigen;valacyclovir hydrolase;valacyclovirase APPROVED protein-coding ENSG00000137274 1094 04403 603156 REVIEWED 1321585 BOP1 block of proliferation 1 8 8 q24.3 145456864 145485928 - 145486056 145515120 - 1580863;6480464 16804918;16043514;16738141;17353269;18809582;17353931;17081983;16964243;21145461;16565220;15635413;15489334;15225545;12477932;12429849;12048210;11790298;11522832;11390653;11237751;9829985;8590280;19615732;22863883;21386990;21252943;22939629;21520196;21900206;22178446;21139048;21890473;21906983;22586326 23246 E9PIF8;E9PP64;E9PRN9;Q14137 AB060694;ABBA01005217;ABBA01005218;AC110280;AC145291;AC233992;AK024840;AK290677;AK293719;AK310015;AK315612;BC001086;BC005160;BC007274;BC013787;BC013980;BC017674;BC073813;BC098446;BE280443;BQ961780;CH471162;D50914;NM_015201 AAH01086;AAH05160;AAH07274;AAH13787;AAH13980;AAH17674;AAH73813;AAH98446;ABM87814;ABW03699;BAA09473;BAB70666;BAF83366;BAG37981;BAG57150;EAW82133;NP_056016;Q14137 Hs.645279 2148557;5095892 RH25347;WI-17683 KIAA0124 OTTHUMP00000228465;block of proliferation 1 protein;ribosome biogenesis protein BOP1 protein-coding ENSG00000170727 15519 16558 610596 VALIDATED 1605438 BPGM 2,3-bisphosphoglycerate mutase 2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009] 7 7 q33 133982095 134015108 + 134331531 134364568 + 6480464;6907045;7240710 2542247;17052986;16344560;15489334;15258155;14702039;12690205;12477932;9832630;9308888;8889548;8440681;6313356;3036106;3023066;2844822;2824335;1387804;1320611;152321;17207965;21045285;22939629;18624398;21890473;21988832;23000965 669 C9JH23;P07738 AACC02000025;AB209044;ABBA01001110;AC009276;AK097778;AK315439;AMYH01017954;BC017050;BM090687;BU608668;BU664387;BX473275;CB994648;CF242942;CH236950;CH471070;DB047822;DB049554;HH770041;HH770403;M23068;NG_012921;NM_001724;NM_199186;X04327 AAA51840;AAH17050;ADQ31825;BAD92281;BAG37827;BAG53525;CAA27858;CBX85738;CBX85919;EAL24067;EAW83821;EAW83822;EAW83823;EAW83824;NP_001715;NP_954655;P07738 Hs.198365 1647068;1711448;1776002;1786220;1852853;1858387;2140183;2152912;2172630 BPGM;D7S2792;D7S2829;D7S697;RH16501;SHGC-107197;SHGC-34608;STS-X04327;WI-17404 DPGM 2,3-bisphosphoglycerate mutase, erythrocyte;2,3-bisphosphoglycerate synthase;2,3-diphosphoglycerate mutase;BPG-dependent PGAM;OTTHUMP00000207868;OTTHUMP00000207869;OTTHUMP00000207870;bisphosphoglycerate mutase;erythrocyte 2,3-bisphosphoglycerate mutase APPROVED protein-coding ENSG00000172331 1093 01961 222800;613896 REVIEWED 736029 BPIFA1 BPI fold containing family A, member 1 This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The exact biological function of this gene is not known, however, it has been suggested to be involved in inflammatory responses to irritants in the upper airways. It may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only three are known. [provided by RefSeq, Aug 2011] 20 20 q11.2 31287463 31294773 + 31823802 31831115 + 1580863;6480464 22213098;17988392;17785110;16713569;16364440;16195890;15489334;15313462;15158712;12975309;12920053;12874788;12753706;12477932;12409287;11821380;11788998;11780052;11251963;11018263;11971875;11425234;19336370;18513434;18245229;18204429;18049866;21787333;22676062;22889411;18646695;19541605;19650845;17207965;20161732;20949060;20519934;19119597;21787339;21632717;21200090;21787346;16196087;20360068;20855242;21805676;23132494;23472073;23371910 51297 A6XMV5;Q9NP55 AB024937;ABBA01019237;AF158745;AF172993;AF214562;AF417256;AF417257;AF421369;AF439448;AK292778;AL121901;AMYH01011853;AY359020;BC012549;CH471077;DQ846869;NM_001243193;NM_016583;NM_130852 AAF70860;AAF82622;AAG13653;AAH12549;AAL87636;AAO12198;AAO12199;AAO12200;AAQ89379;ABI63356;ADQ31860;BAA93633;BAF85467;EAW76327;EAW76328;EAW76329;NP_001230122;NP_057667;NP_570913;Q9NP55 Hs.211092 1341027;1759185;5095944;5124755 D20S195;GDB:313139;RH99153;SHGC-151139 LPLUNC3;LUNX;NASG;PLUNC;SPLUNC1;SPURT;bA49G10.5 BPI fold-containing family A member 1;OTTHUMP00000030625;OTTHUMP00000030626;OTTHUMP00000030627;ligand-binding protein RYA3;lung-specific protein X;nasopharyngeal carcinoma-related protein;palate lung and nasal epithelium clone protein;palate, lung and nasal epithelium associated;palate, lung and nasal epithelium carcinoma associated;protein Plunc;secretory protein in upper respiratory tracts;tracheal epithelium enriched protein;tracheal epithelium-enriched protein;von Ebner protein Hl APPROVED protein-coding ENSG00000198183 15749 07594 607412 REVIEWED 1347929 BPIFA3 BPI fold containing family A, member 3 20 20 20 q11.21 28559029 28569457 + 31268796 31279220 + 31805135 31815559 + 12477932;11971875;11780052;21787333 128861 Q9BQP9 ABBA01019237;AI073399;AL121901;AMYH01011853;AW082233;BC041904;BC066354;BF966133;CH471077;DB446335;HC006830;HC044549;NM_001042439;NM_178466 AAH66354;CBH19221;CBH30604;EAW76330;EAW76331;EAW76332;EAW76333;NP_001035904;NP_848561;Q9BQP9 Hs.360989 C20orf71;MGC44525;SPLUNC3 BPI fold-containing family A member 3;OTTHUMP00000030630;OTTHUMP00000030631;short long palate, lung and nasal epithelium carcinoma associated 3;short palate, lung and nasal epithelium carcinoma-associated protein 3 APPROVED protein-coding ENSG00000131059 16204 12782 VALIDATED 1344811 BPIFB4 BPI fold containing family B, member 4 20 20 20 q11.21 28423195 28453431 + 31134416 31163218 + 31669318 31699557 + 12887310;12837268;11971875;11780052;20237496;21787333 149954 F8WEG9;P59827 ABBA01019244;ABBA01019245;AF549190;AL121756;AMYH01011853;CH471077;NM_182519 AAI40294;AAI46506;AAP84990;EAW76336;EAW76337;NP_872325;P59827 Hs.38961 1658879;1673012;1705652 SHGC-83399;WI-18281;Z94439 C20orf186;LPLUNC4;RY2G5;dJ726C3.5 BPI fold-containing family B member 4;OTTHUMP00000030615;ligand-binding protein RY2G5;likely ortholog of rat probable ligand-binding protein RY2G5;long palate, lung and nasal epithelium carcinoma associated 4;long palate, lung and nasal epithelium carcinoma-associated protein 4 APPROVED protein-coding ENSG00000186191 16179 16645 VALIDATED 5465740 BPIFB5P BPI fold containing family B, member 5, pseudogene 20 31904675 31917368 + 6480464 12887310;15106612;20210993;21787333 100505383 ABBA01019236;ABBA01019237;AL355392;AMYH01011854;NG_027787 pseudo 42177 INFERRED 1350495 BPIFB9P BPI fold containing family B, member 9, pseudogene 20 q11.21 31934926 31942850 + 21787330;21787333 402016 ABBA01019235;AL355392;AMYH01011854;NG_029803;XM_377675 C20orf115;dJ1187J4.2;dJ1187J4.3 APPROVED pseudo 16109 INFERRED 1351299 BPIFA2 BPI fold containing family A, member 2 20 20 20 q11.21 28509850 28523113 + 31219621 31232884 + 31755960 31769223 + 6480464 19499239;18221458;16740002;15489334;12975309;12477932;11971875;11780052;17207965;21787333;21833535 140683 Q6ZNV9;Q96DR5 ABBA01019238;AF432917;AK130543;AK130550;AK291854;AL121901;AMYH01011853;AY359055;BC065726;CH471077;NM_080574 AAH65726;AAL28113;AAQ89414;ADQ32051;BAC85378;BAF84543;EAW76335;NP_542141;Q96DR5 Hs.125960 5017170;5020948;5022578;5109281 D1S1423;D1S1425;G35510;L29953 C20orf70;PSP;SPLUNC2;bA49G10.1 BPI fold-containing family A member 2;OTTHUMP00000030628;OTTHUMP00000164442;parotid secretory protein;short palate, lung and nasal epithelium carcinoma associated 2;short palate, lung and nasal epithelium carcinoma-associated protein 2 APPROVED protein-coding ENSG00000131050 16203 12781 VALIDATED 2303462 BPIFA4P BPI fold containing family A, member 4, pseudogene 20 20 20 q11.21 28535301 28552159 + 31249679 31259208 + 31781411 31798268 + 18172302;17362520;15489334;14739326;12538848;12477932;11780052;21787333 317716 ABBA01019237;AL121901;AMYH01011853;AY180924;AY389991;AY389992;BC069128;BC069315;BC128240;BC128241;CH471077;NR_026760 AAO17728;EAW76334 Hs.434194 BASE;RP11-49G10.8 APPROVED pseudo ENSG00000183566 20469 06359 607627 PROVISIONAL 1604466 BPIFB3 BPI fold containing family B, member 3 20 20 20 q11.21 28397115 28415310 + 31106891 31125095 + 31643230 31661434 + 6480464 17353931;11971875;12837268;12477932;11780052;20237496;21787333 359710 P59826;Q14DE0 ABBA01019245;AF549189;AL121756;AMYH01011853;BC113398;BC113400;CH471077;NM_182658 AAI13399;AAI13401;AAP84989;ADR83194;EAW76338;NP_872599;P59826 Hs.472442 C20orf185;LPLUNC3;RYA3;dJ726C3.4 BPI fold-containing family B member 3;OTTHUMP00000030614;ligand-binding protein RYA3;long palate, lung and nasal epithelium carcinoma associated 3;long palate, lung and nasal epithelium carcinoma-associated protein 3 APPROVED protein-coding ENSG00000186190 16178 16644 PROVISIONAL 1322016 BPIFB2 BPI fold containing family B, member 2 This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 28349284 28365392 + 31059068 31075176 + 31595407 31611515 + 1580863;6480464 16740002;15489334;15340161;12975309;12837268;12477932;12185532;11971875;11780052;11018263;20237496;21787333;15342556 80341 Q8N4F0 ABBA01019245;ABBA01019246;AF465765;AK027068;AK172819;AK304064;AL121756;AMYH01011852;AY358723;BC034415;BP333980;CH471077;NG_016714;NM_025227 AAH34415;AAM73983;AAQ89085;ABM83406;ABM86617;BAD18788;BAG64971;EAW76341;NP_079503;Q8N4F0 Hs.257045 BPIL1;C20orf184;LPLUNC2;RYSR;dJ726C3.2 BPI fold-containing family B member 2;BPI-like 1;OTTHUMP00000030612;bactericidal/permeability-increasing protein-like 1;long palate, lung and nasal epithelium carcinoma-associated protein 2 APPROVED protein-coding ENSG00000078898 16177 10690 614108 REVIEWED 1343435 BPIFB1 BPI fold containing family B, member 1 The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 28624683 28651429 + 31334602 31361345 + 31870941 31897684 + 6480464 19212328;15489334;14702039;12975309;12874788;12477932;11971875;11780052;20237794;17207965;21628590;21787333;21900486;20360068;22767025 92747 A2A2R0;Q9H4V6 ABBA01019237;AF364078;AK127971;AK290243;AK310964;AK313176;AL121901;AL355392;AMYH01011854;AW449208;AY358595;BC008429;CD696225;CH471077;NM_033197 AAH08429;AAM00283;AAQ88958;ADQ32773;BAC87212;BAF82932;BAG35993;EAW76326;NP_149974;Q8TDL5 Hs.65551 2121559 AL023479 C20orf114;LPLUNC1;MGC14597 BPI fold-containing family B member 1;OTTHUMP00000043374;VEMSGP;long palate, lung and nasal epithelium carcinoma associated 1;long palate, lung and nasal epithelium carcinoma-associated protein 1;von Ebner minor salivary gland protein APPROVED protein-coding ENSG00000125999 16108 12740 REVIEWED 1352551 BPY2 basic charge, Y-linked, 2 This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the copy outside of the palidromic region. [provided by RefSeq, Jul 2008] Y Y q11 23539798 23561000 + 25130410 25151612 + 1580863;6480464 17511727;15177557;14627543;12815422;12724276;12207887;9381176;20039973;9847074;20301513 9083 O14599;R4GMN0 ABBA01017884;AC006366;AF000980;NG_004755;NG_009862;NM_004678 AAC51828;NP_004669;O14599 Hs.664724 5021232;5107387 G34986;G65869 BPY2A;BPY2B;BPY2C;VCY2;VCY2A OTTHUMP00000064811;basic protein on Y chromosome 2;testis-specific basic protein Y 2;testis-specific basic protein on Y, 2;variable charge, Y-linked, 2;variably charged protein Y 2 APPROVED protein-coding ENSG00000183753 13508 02454 400013 REVIEWED 1344816 BPY2B basic charge, Y-linked, 2B This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more centromeric copy within the palindrome. [provided by RefSeq, Jul 2008] Y Y Y q11.223 10935977 10957180 + 25173539 25194742 + 26764151 26785354 + 6480464 15177557;14627543;12815422;12724276;12207887;9381176;9847074 442867 O14599;R4GMN0 AC010153;CH471236;NG_004755;NM_001002760 AAI40268;EAW55859;NP_001002760;O14599 Hs.632848 5021232;5107387 G34986;G65869 BPY2;BPY2C;VCY2;VCY2B OTTHUMP00000042594;basic charge, Y-linked 2;basic protein on Y chromosome 2;testis-specific basic protein Y 2;testis-specific basic protein on Y, 2;variable charge, Y-linked, 2;variably charged protein Y 2 APPROVED protein-coding ENSG00000183795 25449 12530 REVIEWED 1353479 BPY2C basic charge, Y-linked, 2C This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more telomeric copy within the palindrome. [provided by RefSeq, Jul 2008] Y Y q11.223 25586436 25607639 - 27177048 27198251 - 12207887;14627543;9381176;12724276;15177557;12815422;9847074 442868 O14599;R4GMN0 AC016728;NG_004755;NM_001002761 AAI48465;AAI56665;NP_001002761;O14599 Hs.664724 5021232;5107387 G34986;G65869 BPY2;BPY2B;VCY2;VCY2C OTTHUMP00000042658;basic charge, Y-linked 2;basic protein on Y chromosome 2;testis-specific basic protein Y 2;testis-specific basic protein on Y, 2;variable charge, Y-linked, 2;variably charged protein Y 2 APPROVED protein-coding ENSG00000185894 18225 18658 REVIEWED 1346538 BRAFP1 v-raf murine sarcoma viral oncogene homolog B pseudogene 1 X X X q13.3 75085812 75089167 + 74719192 74719965 + 74802489 74805844 + 1630826 286494 ABBA01059432;AC020717;AMYH01022618;NG_003108;X65188 BRAF2;BRAFPS2 APPROVED pseudo 18615 INFERRED 6769428 BPY2DP basic charge, Y-linked, 2D, pseudogene Y p11.2 7794130 7817040 - 100885797 ABBA01060178;ABBA01060179;AC010678;NG_032694 pseudo 38794 INFERRED 1323145 BPIFB6 BPI fold containing family B, member 6 20 20 20 q11.21 28373331 28385730 + 31083115 31095514 + 31619454 31631853 + 1580863;6480464 15790807;12477932;12185532;11780052;20237496;21787333 128859 F5H8I3;Q8NFQ5 ABBA01019245;AF465767;AL121756;AMYH01011852;AY927631;BC113122;CH471077;NM_174897 AAI40307;AAI46465;AAM73985;EAW76339;EAW76340;NP_777557;Q8NFQ5 Hs.375090 BPIL3;LPLUNC6 BPI fold-containing family B member 6;OTTHUMP00000030617;bactericidal/permeability-increasing protein-like 3 APPROVED protein-coding ENSG00000167104 16504 16561 614110 VALIDATED 1323273 BPIFC BPI fold containing family C 22 22 22 q12.3 16612005 16655541 - 31140290 31183373 - 32809834 32853373 - 1580863;6480464 12185532;17562024;12477932;10591208 254240 A2RRF1;F5H3G0;Q5TI88;Q8NFQ6 ABBA01055375;ABBA01055376;ABBA01055377;ABBA01055378;AF465766;AK301685;AL021937;AMYH01012728;BC062656;BC131582;CH471095;CK823453;CU456409;NM_174932 AAI31583;AAM73984;BAG63157;EAW60022;NP_777592;Q8NFQ6 Hs.372939;Hs.736771 1800086;1805846;1806058;1809680;1811308;1816898;1819708;1821792;1823926;1826672;1827460;1828594;1831034;1831634;1833628;1833736;1833910;1834154;1834340;1834544;1834672;1834970;1835026;1835254;1837140;1837498;1837808;1840650;1840706;1841002;1841142;1842504;1842902;1842970;1843140;1843256;1843806;1844210;1844302;1844854;1845436;1845688;2013754;2013756;2013758;2013760;2013762;2013764;2013766;2013768;2013770;2013772;2013774;2013776;2013778;2013780;2013782;2013784;2013786;2013788;2013790;2013792;2013794;2013796;2013798;2013800;2013802;2013804;2013806;2013808;2013810;2013812;2013814;2013816;2013818;2013820;2013822;2013824;2013826;2013828;2013830;2013832;2013834;2013836;2013838;2013840;2013842;2013844;2013846;2013848;2013850;2013852;2013854;2013856;2013858;2013860;2013862;2013864;2013866;2013868;2013870;2013872;2013874;2013876;2013878;2013880;2013882;2013884;2013886;2013888;2013890;2013892;2013894;2013896;2013898;2013900;2013902;2013904;2013906;2013908;2013910;2013912;2013914;2013916;2013918;2013920;2013922;2013924;2013926;2013928;2013930;2013932;2013934;2013936;2013938;2013940;2013942;2013944;2013946;2013948;2013950;2013952;2013954;2013956;2013958;2013960;2013962;2013964;2013966;2013968;2013970;2013972;2013974;2013976;2013978;2013980;2013982;2013984;2013986;2013988;2013990;2013992;2013994;2013996;2013998;2014000;2014002;2014004;2014006;2014008;2014010;2014012;2014014;2014016;2014018;2014020;2014022;2014024;2014026;2014028;2014030;2014032;2014034;2014036;2014038;2014040;2014042;2014044;2014046;2014048;2014050;2014052;2014054;2014056;2014058;2014060;2014062;2014064;2014066;2014068;2014070;2014072;2014074;2014076;2014078;2014080;2014082;2014084;2014086;2014088;2014090;2014092;2014094;2014096;2014098;2014100;2014102;2014104;2014106;2014108;2014110;2014112;2014114;2014116;2014118;2014120;2014122;2098720;2098722;2098724;2098726;2098728;2098730;2098732;2098734;2098736;2098738;2098740;2098742;2098744;2098746;2098748;2098750;2098752;2098754;2098756;2098758;2098760;2098762;2098764;2098766;2098768;2098770;2098772;2098774;2098776;2098778;2098780;2098782;2098784;2098786;2098788 ECD00898;ECD03874;ECD03982;ECD05832;ECD06652;ECD09495;ECD10921;ECD11982;ECD13057;ECD14450;ECD14846;ECD15424;ECD16653;ECD16954;ECD17959;ECD18013;ECD18101;ECD18225;ECD18318;ECD18420;ECD18484;ECD18636;ECD18664;ECD18782;ECD19736;ECD19916;ECD20074;ECD21515;ECD21544;ECD21694;ECD21765;ECD22459;ECD22659;ECD22693;ECD22778;ECD22836;ECD23114;ECD23318;ECD23365;ECD23643;ECD23935;ECD24062;REN77816;REN77817;REN77818;REN77819;REN77820;REN77821;REN77822;REN77823;REN77824;REN77825;REN77826;REN77827;REN77828;REN77829;REN77830;REN77831;REN77832;REN77833;REN77834;REN77835;REN77836;REN77837;REN77838;REN77839;REN77840;REN77841;REN77842;REN77843;REN77844;REN77845;REN77846;REN77847;REN77848;REN77849;REN77850;REN77851;REN77852;REN77853;REN77854;REN77855;REN77856;REN77857;REN77858;REN77859;REN77860;REN77861;REN77862;REN77863;REN77864;REN77865;REN77866;REN77867;REN77868;REN77869;REN77870;REN77871;REN77872;REN77873;REN77874;REN77875;REN77876;REN77877;REN77878;REN77879;REN77880;REN77881;REN77882;REN77883;REN77884;REN77885;REN77886;REN77887;REN77888;REN77889;REN77890;REN77891;REN77892;REN77893;REN77894;REN77895;REN77896;REN77897;REN77898;REN77899;REN77900;REN77901;REN77902;REN77903;REN77904;REN77905;REN77906;REN77907;REN77908;REN77909;REN77910;REN77911;REN77912;REN77913;REN77914;REN77915;REN77916;REN77917;REN77918;REN77919;REN77920;REN77921;REN77922;REN77923;REN77924;REN77925;REN77926;REN77927;REN77928;REN77929;REN77930;REN77931;REN77932;REN77933;REN77934;REN77935;REN77936;REN77937;REN77938;REN77939;REN77940;REN77941;REN77942;REN77943;REN77944;REN77945;REN77946;REN77947;REN77948;REN77949;REN77950;REN77951;REN77952;REN77953;REN77954;REN77955;REN77956;REN77957;REN77958;REN77959;REN77960;REN77961;REN77962;REN77963;REN77964;REN77965;REN77966;REN77967;REN77968;REN77969;REN77970;REN77971;REN77972;REN77973;REN77974;REN77975;REN77976;REN77977;REN77978;REN77979;REN77980;REN77981;REN77982;REN77983;REN77984;REN77985;REN77986;REN77987;REN77988;REN77989;REN77990;REN77991;REN77992;REN77993;REN77994;REN77995;REN77996;REN77997;REN77998;REN77999;REN78000;stSG602755;stSG602756;stSG602758;stSG602759;stSG602760;stSG602761;stSG602762;stSG602764;stSG602765;stSG602766;stSG602767;stSG602768;stSG602769;stSG602770;stSG602771;stSG602772;stSG602773;stSG602774;stSG602775;stSG602776;stSG602777;stSG602778;stSG602779;stSG602780;stSG602781;stSG602782;stSG602783;stSG602784;stSG602785;stSG602786;stSG602787;stSG602788;stSG602789;stSG602790;stSG602791 BPIL2 BPI fold-containing family C protein;BPI-like 2;OTTHUMP00000064018;bactericidal/permeability-increasing protein-like 2 APPROVED protein-coding ENSG00000184459 16503 16560 614109 VALIDATED 1606082 BRCA1P1 BRCA1 pseudogene 1 17 17 17 q21 37976945 37978829 - 38573613 38575497 - 41320087 41321971 - 11880951;11179671;10205276;8954804;8700509;19067158;21989022 394269 ABBA01006390;AC060780;AMYH01008402;NG_003183;NG_005905;U77841 LBRCA1;PsiBRCA1;pseudo-BRCA1 pseudo 28470 INFERRED 1350405 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase's physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. [provided by RefSeq, Jul 2008] 1 1 1 q41 193450034 193482399 - 218297447 218329814 - 220230824 220263191 - 6480464 10224133;15489334;14702039;12477932;20628624;21139048;22505724 10380 A6NF51;B4DPS5;B4DUS9;F8VRY7;F8VVW8;F8VZG4;F8W1J0;O95861 ABBA01048082;ABBA01048083;ABBA01048084;ABBA01048085;AC103590;AF125042;AJ249339;AK021941;AK291943;AK298476;AK300777;AK315962;AMYH01001741;BC017801;BG114910;BG428446;CH471100;NM_006085 AAD17329;AAH17801;BAF84632;BAG60687;BAG62441;BAH14333;CAB65115;EAW93306;EAW93307;EAW93308;NP_006076;O95861 Hs.406134 2134682;5016596;5037552 D8S2279;GDB:631802;SHGC-76373 PIP 3'(2'),5'-bisphosphate nucleotidase 1;BPntase;OTTHUMP00000035564;OTTHUMP00000035565;OTTHUMP00000241397;PAP-inositol 1,4-phosphatase;PAP-inositol-1,4-phosphatase;bisphosphate 3'-nucleotidase 1 APPROVED protein-coding ENSG00000162813 1096 06814 604053 VALIDATED 1352713 BRCA3 breast cancer 3 7240710 10944226;11792833 60500 1340557 D13S1308 18617 1348068 BRAP BRCA1 associated protein The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008] 12 12 q24 110566280 110608122 - 112079950 112123790 - 6480464 14724641;9497340;19198608;19152073;19009954;18380995;18332145;15340083;10777491;10508479;8889548;8955125;12477932;18577512;19698717;19713974;20040518;19549727;21372407;23105109;21301165;22078348;18781797;20639865;21857995;22085839;22022282;21139048;21890473;21906983;21670849;21983900;20686565;22122968;22493691;21145461;21963094;23000965;23356535;22053931;22505724 8315 B4DRM1;F8VZK5;J3KNN7;Q59H81;Q7Z569 AB208878;ABBA01019899;ABBA01019900;ABBA01019901;ABBA01019902;AC002996;AC137055;AF035620;AF035950;AK290379;AK299326;AK308279;AMYH01004752;AY332222;BC136698;BC136699;BU674276;CH471054;NM_006768 AAB88538;AAC24200;AAI36699;AAI36700;AAP93638;BAD92115;BAF83068;BAG61333;EAW97972;NP_006759;Q7Z569 Hs.530940 1643966;1686488;1855656 RH66114;RH98922;WI-14855 BRAP2;IMP;RNF52 BRCA1-associated protein;OTTHUMP00000241647;OTTHUMP00000241648;OTTHUMP00000241649;RING finger protein 52;galectin-2-binding protein;impedes mitogenic signal propagation;renal carcinoma antigen NY-REN-63 APPROVED protein-coding ENSG00000089234 1099 604986 REVIEWED 1315998 BPTF bromodomain PHD finger transcription factor This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008] 17 17 q24.3 63252242 63410956 + 65821780 65980494 + 1580863;6480464 14609955;10403843;10575013;10727212;7621746;19190132;17081983;16728978;16728976;16137655;15489334;15379550;15302935;14702039;12634501;12477932;11640947;10662542;9225734;8975731;8950167;8889548;22797724;18029348;18974875;20300178;21596426;17846119;22939629;22586326;19279002;21139048;21693764;21890473;21900206;21653943;19471022;21447625;20953165;21282530;23000965;23143601 2186 E7ETD6;E9PE19;F5GXF5;F5H176;J3KSK9;J3KSY0;J3QLW4;J3QQK4;J3QQQ8;Q12830 AB032251;ABBA01028976;ABBA01028977;ABBA01028978;ABBA01028979;ABBA01028980;ABBA01028981;AC006534;AC107377;AC134407;AK022081;AK022570;AK025776;AK027184;AK293224;AK296256;AK297281;AL833375;AMYH01008586;AMYH01008587;AY282495;BC037422;BC039881;BC050566;BC067234;BE464864;BQ716216;BU169920;BU176205;CF135401;CH471099;CV809604;NM_004459;NM_182641;U05237 AAA97522;AAH50566;AAH67234;AAP22284;BAA89208;BAB15686;BAG56763;BAG58970;BAG59752;EAW89038;EAW89039;NP_004450;NP_872579;Q12830 Hs.444200 1678265;1697996;1701318;1739901;1767662;1797210;1855227;2108079;2153076;2177649 A007J48;D17S1772;FALZ;FALZ_8339;RH102527;RH104289;RH12419;RH36156;RH78180;SHGC-57348 FAC1;FALZ;NURF301 OTTHUMP00000163084;OTTHUMP00000163085;bromodomain and PHD domain transcription factor;bromodomain and PHD finger-containing transcription factor;fetal Alz-50 clone 1 protein;fetal Alz-50 reactive clone 1;nucleosome remodeling factor, large subunit;nucleosome-remodeling factor subunit BPTF APPROVED protein-coding ENSG00000171634 3581 03490 601819 REVIEWED 1318809 BRAT1 BRCA1-associated ATM activator 1 The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role in the DNA damage pathway regulated by BRCA1 and ATM. [provided by RefSeq, Mar 2012] 7 7 7 p22.3 2546833 2564507 - 2544037 2561672 - 2577444 2595392 - 6480464 16964243;15489334;14702039;12477932;15342556;16452482;22863883;16196087;21139048;21693764;21890473;21906983;22279524;21987572;19471022;23383273;21963094;23000965;22505724;23251661 221927 F8WDN5;Q9UFA3 AACC02000053;ABBA01039380;ABBA01039381;AC092488;AI963076;AK024482;AK131083;AK131097;AK311144;AL133088;AMYH01016976;BC007209;BC015632;BC023561;BC040704;BP363179;CH236953;CH471144;NG_032167;NM_152743 AAH07209;AAH15632;AAH23561;AAH40704;BAB15772;BAC85133;BAC85147;CAB61405;EAL23957;EAW87255;EAW87256;EAW87257;EAW87258;EAW87259;EAW87260;NP_689956;Q6PJG6 Hs.520623 1771476 IB3588 BAAT1;C7orf27;MGC22916;RMFSL BRCA1-associated ATM activator 1;BRCA1-associated protein required for ATM activation protein 1;HEAT repeat-containing protein C7orf27;OTTHUMP00000147633 APPROVED protein-coding ENSG00000106009 21701 12914 614498;614506 REVIEWED 1604470 BRCTD1 BRCT domain containing 1 q15 15632077;12477932;11230166 345499 AL050298;BC054885;BC070332;BC107571 AAH54885;AAH70332;AAI07572;CAB43397;Q3B7K4;Q6NSA5;Q6PHW9;Q9Y402 Hs.657315 BRCTx;DKFZp564C0469 protein-coding 25362 735645 BRAF v-raf murine sarcoma viral oncogene homolog B This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008] 7 7 q34 140080751 140271033 - 140433812 140624564 - 1580093;1580103;1580863;1580106;1626216;2315865;2315868;2298531;2315855;2298686;2293882;5133243;5133242;6480464;5686410;6484113;6907045;7240710 16439621;16424035;16508002;17310240;19289622;19079609;18098337;19955937;18060073;17126425;21277552;20951313;22177953 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673 H7C4S5;H7C560;H7C5K3;Q13878 AA252358;AA834931;AACC02000020;ABBA01034086;ABBA01034087;ABBA01034088;ABBA01034089;ABBA01034090;ABBA01034091;AC006006;AC006344;AC006347;AC079339;AI203435;AK054801;AK314346;AMYH01017991;AMYH01017992;AW971583;BC038966;BC101757;BC112079;BM263585;CH236950;CH471070;DB454480;DN996440;EU600171;HB432546;HC464558;HM437233;M21001;M95712;NG_007873;NM_004333;X65187 AAA35609;AAA96495;AAD15551;AAD43193;AAI01758;AAI12080;AAS00359;ACD11489;ADN43065;CAA46301;CAZ68014;CBK51920;EAL24023;EAW83964;EAW83965;NP_004324;P15056 Hs.550061 1718051;1851691;1853747;2116083;2119056;2120598;2162361;2173466;2178697 D7S1672;D7S2227;GDB:1317924;GDB:1318226;GDB:1318374;RH122643;SHGC-35884;STS-T28237;WI-17864 B-RAF1;BRAF1;FLJ95109;MGC126806;MGC138284;NS7;RAFB1 94 kDa B-raf protein;B-Raf proto-oncogene serine/threonine-protein kinase (p94);OTTHUMP00000212184;murine sarcoma viral (v-raf) oncogene homolog B1;p94;proto-oncogene B-Raf;serine/threonine-protein kinase B-raf;v-raf murine sarcoma viral oncogene homolog B1 APPROVED protein-coding ENSG00000157764 1097 01264 115150;164757;211980;613706;613707 REVIEWED 736254 BRCA2 breast cancer 2, early onset Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. 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675 E9PIQ1;H0YD86;H0YE37;P51587 ABBA01010135;ABBA01010136;ABBA01010137;AF309413;AF348515;AF489725;AF489726;AF489727;AF489728;AF489729;AF489730;AF489731;AF489732;AF489733;AF489734;AF489735;AF489736;AF489737;AF489738;AF507079;AF507080;AF507081;AF507082;AF507083;AF507084;AF507085;AF507086;AF507087;AF507088;AF507089;AF507090;AL137247;AL445212;AMYH01005021;AY008850;AY008851;AY151039;AY436640;BC026160;BC047568;CH471075;DQ897648;JX480468;JX480469;JX480470;JX480471;JX480473;JX480474;JX480476;JX480477;JX480478;NG_012772;NM_000059;U43746;X95152;X95161;Z73359;Z74739 AAB07223;AAG32681;AAG32682;AAG46030;AAK29432;AAN28944;AAN61409;AAN61410;AAN61411;AAN61412;AAN61413;AAN61414;AAN61415;AAN61416;AAN61417;AAN61418;AAN61419;AAN61420;AAN61421;AAN61422;AAN61426;AAN61427;AAN61428;AAN61429;AAN61430;AAN61431;AAN61432;AAN61433;AAN61434;AAN61435;AAN61436;AAN61437;AAQ97181;ABI74674;ACX32322;AFU88810;AFU88811;AFU88812;AFU88813;AFU88815;AFU88816;AFU88818;AFU88819;AFU88820;CAA64484;CAA97728;CAA98995;CAI40479;EAX08499;EAX08500;EAX08501;NP_000050;P51587 Hs.34012 1695158;1708016;1792188;1792190;1792192;1792194;1792196;1793590;1794268;1926704;2113446;2121311;2131231;2155936;5491828 BRCA2;D13S1788;G48219;PMC13918P2;PMC13918P3;PMC13918P4;PMC13918P5;PMC13918P6;PMC23830P1;PMC310899P14;REN34178;RH68440;SHGC-81356;STS-X95152;STS-X95157 BRCC2;BROVCA2;FACD;FAD;FAD1;FANCB;FANCD;FANCD1;GLM3;PNCA2 BRCA1/BRCA2-containing complex, subunit 2;OTTHUMP00000018803;breast and ovarian cancer susceptibility gene, early onset;breast cancer 2;breast cancer 2 tumor suppressor;breast cancer susceptibility protein BRCA2;breast cancer type 2 susceptibility protein;fanconi anemia group D1 protein;truncated breast and ovarian cancer susceptibility protein 2 2303074 MAMTS46_H APPROVED protein-coding ENSG00000139618 1101 02554 114480;155255;176807;194070;600185;605724;612555;613029;613347 REVIEWED 69132 BRCA1 breast cancer 1, early onset This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009] 17 17 q21 38449840 38530994 - 41196312 41277500 - 1580863;1599502;734655;734657;734656;1599497;1578504;2293150;2293156;2293014;2293154;2293190;2293149;2293151;2293153;2298941;2298942;2293155;2293152;2289042;6480464;6484113;6907045;7240710 12203372;9167459;10398279;9700175;7907678;16498454;18400253;11889595;18094410;18182994;18483361;18443292;18269736;18204050;12773202;10442317;17505536;18256760;18182994 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672 B4DES0;B7ZA85;C6YB45;C9IZW4;E7EMP0;E7EN90;E7ENB7;E7EP70;E7EQW4;E7ETR2;E7EUM2;E7EWN5;E9PC22;E9PFC7;E9PFZ0;E9PH68;F8W8H7;G3XAC3;H0Y850;H0Y881;H0Y8B8;H0Y8D8;K7EJW3;K7EPC7;P38398;Q1RMC1;Q3B891 ABBA01006390;ABBA01006391;ABBA01006392;ABBA01006393;AC135721;AF005068;AF274503;AF284812;AF507076;AF507078;AK293762;AK307553;AK308084;AK316200;AL701927;AMYH01008402;AY093484;AY093485;AY093486;AY093487;AY093489;AY093490;AY093492;AY093493;AY144588;AY273801;AY304547;AY354539;AY706911;AY706912;AY751490;BC012577;BC030969;BC038947;BC046142;BC062429;BC072418;BC085615;BC106745;BC106746;BC114511;BC114562;BC115037;BU617173;BU679389;CH471152;DQ116737;DQ145822;DQ145823;DQ145825;DQ145826;DQ190450;DQ190451;DQ190452;DQ190453;DQ190454;DQ190455;DQ190456;DQ190457;DQ299305;DQ299306;DQ299307;DQ299308;DQ299309;DQ299310;DQ299311;DQ299312;DQ299313;DQ299314;DQ299315;DQ299316;DQ299317;DQ299318;DQ299319;DQ299321;DQ299322;DQ299323;DQ299324;DQ299325;DQ299326;DQ299327;DQ299328;DQ299329;DQ299330;DQ299331;DQ333386;DQ333387;DQ363751;DQ478408;JN686490;L78833;NG_005905;NM_007294;NM_007297;NM_007298;NM_007299;NM_007300;NR_027676;U14680;U15595;U37574;U61268;U64805;U68041;Y08757;Y08864 AAA73985;AAB08105;AAB40910;AAB61673;AAC00049;AAC37594;AAC50330;AAF97939;AAH30969;AAH62429;AAH72418;AAH85615;AAI06746;AAI06747;AAI15038;AAM18218;AAM18219;AAM18220;AAM18221;AAM18222;AAM18223;AAM18225;AAM18226;AAN10167;AAN61423;AAN61425;AAP12647;AAP70031;AAQ92977;AAU21563;AAU21564;AAU93634;AAZ16492;AAZ79406;AAZ79407;AAZ79409;AAZ79410;ABA29208;ABA29211;ABA29214;ABA29217;ABA29220;ABA29223;ABA29226;ABA29229;ABB87053;ABB87054;ABB87055;ABB87056;ABB87057;ABB87058;ABB87059;ABB87060;ABB87061;ABB87062;ABB87063;ABB87064;ABB87065;ABB87066;ABB87067;ABB87069;ABB87070;ABB87071;ABB87072;ABB87073;ABB87074;ABB87075;ABB87076;ABB87077;ABB87078;ABB87079;ABC59810;ABC59811;ABC88652;ABF14462;AEQ98814;BAG57181;BAH14571;CAA70003;EAW60922;EAW60923;EAW60924;EAW60925;EAW60926;EAW60927;EAW60928;EAW60929;EAW60930;EAW60931;EAW60932;EAW60933;EAW60934;EAW60935;EAW60936;EAW60937;EAW60938;EAW60939;EAW60940;EAW60941;EAW60942;NP_009225;NP_009228;NP_009229;NP_009230;NP_009231;P38398 Hs.194143 1339869;1646829;1686754;1722255;1730946;1733800;1744103;1744105;1744107;1744109;1744111;1744113;1744115;1744117;1744119;1744121;1744123;1744125;1744127;1744129;1744131;1744133;1744135;1744137;1744139;1744415;1744417;1744419;1744421;1744423;1744425;1744427;1744429;1744431;1744433;1744435;1744437;1744439;1744441;1744443;1744445;1744447;1744449;1744451;1745637;1745639;1745697;1759043;1791446;1792180;1792186;1793764;1793766;1794264;1794266;1794270;1794272;1794274;1794276;1794278;2106449;2164296;2190495;5022588;5109450;5127899 BRCA1;BRCA1_4046;D17S1198;D17S1322;D17S1323;D17S855;D17S932;D5S1597E;G10044;G60034;GDB:388557;GDB:388674;GDB:388688;GDB:389033;GDB:389047;GDB:389054;GDB:391358;GDB:391365;GDB:391372;GDB:391818;GDB:391825;GDB:391832;GDB:391839;GDB:391846;GDB:391853;GDB:391860;GDB:391867;GDB:391874;GDB:391881;GDB:454227;GDB:454278;GDB:454349;GDB:454353;GDB:454372;GDB:454381;GDB:454417;GDB:454421;GDB:454425;GDB:454429;GDB:454433;GDB:454437;GDB:454441;GDB:454446;GDB:454450;GDB:454454;GDB:454458;GDB:454462;GDB:454466;GDB:626829;GDB:626905;GDB:631944;PMC110706P1;PMC139147P1;PMC13918P1;PMC280658P1;PMC280658P2;PMC310899P11;PMC310899P12;PMC310899P2;PMC310899P3;PMC310899P5;PMC310899P6;PMC310899P8;RH79896;SHGC-151111;SHGC-152118 BRCAI;BRCC1;BROVCA1;IRIS;PNCA4;PPP1R53;PSCP;RNF53 BRCA1/BRCA2-containing complex, subunit 1;OTTHUMP00000212143;OTTHUMP00000212147;OTTHUMP00000212148;OTTHUMP00000212149;OTTHUMP00000212150;OTTHUMP00000212151;OTTHUMP00000212155;RING finger protein 53;breast and ovarian cancer susceptibility protein 1;breast and ovarian cancer sususceptibility protein;breast and ovarian cancer sususceptibility protein 1;breast cancer 1;breast cancer type 1 susceptibility protein;protein phosphatase 1, regulatory subunit 53 2292917;2292991;2292992;2303079 MAMTS45_H;PRSTS123_H;PRSTS128_H;PRSTS133_H APPROVED protein-coding ENSG00000012048 1100 00218 113705;604370;614320 REVIEWED 1343686 BRD7P1 bromodomain containing 7 pseudogene 1 14 14 14 q11.2 4081020 4083243 - 23288193 23290474 - 24218315 24220538 + 100288948 ABBA01061325;AL160237;AMYH01005605;NG_022855 BRD7P APPROVED pseudo 19923 INFERRED 1626549 BRD7P2 bromodomain containing 7 pseudogene 2 3 3 3 q25.33 158240085 158242306 + 161301332 161303410 + 159818478 159820699 + 647076 ABBA01058799;AC026118;AMYH01013613;NG_009641 1680212;1683371;1735290;1857830;2144750 D3S2934E;RH12903;RH18317;SHGC-2534;SHGC-64341 pseudo 33541 INFERRED 1344323 BRCC3 BRCA1/BRCA2-containing complex, subunit 3 This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains, and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jun 2011] X X q28 153952904 154004543 + 154299695 154351349 + 6480464 8247530;14636569;17525341;19202061;19214193;19261746;19261749;19261748;18077395;17143545;16381901;16189514;15489336;15489334;14737182;12477932;11076863;19015238;19305427;1303175;17353931;20032457;21335604;21596366;20656690;19615732;21282113;17664283;15342556;22863883;22990118;22689573;20656689;21987572;21139048;21890473;21906983;21963094;22053931;22357538;23000965;23211528;19380743;22505724 79184 B4DQN7;H7C413;H9KVA9 ABBA01029116;ABBA01029117;ABBA01029118;ABBA01029119;ABBA01029120;ABBA01029121;ABBA01029122;ABBA01029123;ABBA01029124;ABBA01029125;ABBA01029126;AK298886;AK299194;AK310286;AK313544;AMYH01023323;AY438030;BC002999;BC006540;BP304352;BU902387;BX293995;BX470111;CH471172;NM_001018055;NM_001242640;NM_024332;S68015;X64643 AAB29005;AAH02999;AAH06540;AAR30498;BAG36320;BAG60999;BAG61237;CAA45917;CAL37707;EAW72632;EAW72633;EAW72634;EAW72635;EAW72636;EAW72637;NP_001018065;NP_001229569;NP_077308;P46736 Hs.558537 1681460;1800254;1800410;1802244;1806514;1809564;1813088;1813970;1816038;1816750;1817078;1817476;1820278;1820344;1822890;1823862;1824406;1824486;1827220;1827396;1828442;1828444;1829942;1831506;1831682;1833870;1836286;1837602;1837910;1838872;1841088;1842792;1843464;1844916;1845144;2103180;2103182;2103184;2103186;2103188;2103190;2103192;2103194;2103196;2103198;2103200;2103202;2103204;2103206;2103208;2103210;2103212;2103214;2103216;2103218;2103220;2103222;2103224;5022209 ECD00985;ECD01065;ECD02005;ECD04214;ECD05774;ECD07563;ECD08012;ECD09059;ECD09419;ECD09588;ECD09788;ECD11213;ECD11247;ECD12533;ECD13023;ECD13301;ECD13341;ECD14725;ECD14814;ECD15347;ECD15348;ECD16104;ECD16890;ECD16978;ECD18081;ECD19304;ECD19968;ECD20126;ECD20615;ECD21738;ECD22603;ECD22941;ECD23674;ECD23789;RH79163;STS-X64643;stSG604436;stSG604437;stSG604438;stSG604439;stSG604441;stSG604442;stSG604443;stSG604444;stSG604446;stSG604447;stSG604448;stSG604449;stSG604450;stSG604451;stSG604452;stSG604453;stSG604454;stSG604455;stSG604456;stSG604457;stSG604458;stSG604461;stSG604462 BRCC36;C6.1A;CXorf53;RP11-143H17.2 BRCA1-A complex subunit BRCC36;BRCA1/BRCA2-containing complex subunit 36;BRISC complex subunit BRCC36;OTTHUMP00000024245;OTTHUMP00000024246;OTTHUMP00000196187;OTTHUMP00000196188;c6.1A;lys-63-specific deubiquitinase BRCC36 APPROVED protein-coding ENSG00000185515 24185 06465 300617 REVIEWED 3207434 BRD7P4 bromodomain containing 7 pseudogene 4 6 6 q21 112497473 112499718 + 111750912 111753157 + 100287229 ABBA01026090;AL512325;AMYH01016592;NG_016163 1857830 SHGC-64341 pseudo 37630 INFERRED 1323531 BRD1 bromodomain containing 1 This gene encodes a protein of unknown function. The protein contains a bromodomain, a sequence motif often found in transcriptional coactivators, and localizes to the nucleus in testis and several other cell types. [provided by RefSeq, Jul 2008] 22 22 22 q13.33 34088639 34139967 - 48552941 48604456 - 50166937 50218452 - 1580863;6480464 1350857;10602503;17081983;15461802;12477932;10591208;16407974;16169070;16387653;16484223;18029348;19693800;19763615;19908236;20379614;20211142;21273288;20224553;22820306;21880731;23894747;21139048;21890473;21720545;15231748 23774 B4E3L9;F5H6M9;J3KNX6;J3KQ61;O95696 AB209216;ABBA01031328;ABBA01031329;ABBA01031330;AF005067;AK292428;AK302736;AK302845;AK304330;AK304776;AL049402;AL080149;AMYH01012885;BC030007;BC047508;CH471138;CR456408;CR936643;NM_014577;Z98885 AAF34320;AAH30007;AAH47508;BAD92453;BAF85117;BAG63953;BAG64034;BAG65531;BAH14162;CAB45742;CAG30294;CAH56423;CAI56783;CAK54399;CAK54698;EAW73473;EAW73474;EAW73475;EAW73476;EAW73477;NP_055392;O95696 Hs.127950 1644724;1646674;1711628;1711692;1732185;2107895 BRD1_8015;D22S1057;D22S55;G49315;G49348;WI-14811 BRL;BRPF1;BRPF2;DKFZp686F0325 BR140-like protein;OTTHUMP00000196965;OTTHUMP00000196966;OTTHUMP00000196967;OTTHUMP00000196968;bromodomain and PHD finger-containing protein 2;bromodomain-containing protein 1 APPROVED protein-coding ENSG00000100425 1102 06848 604589 REVIEWED 3322052 BRD7P5 bromodomain containing 7 pseudogene 5 13 13 13 q32.1 76257655 76259476 - 94207702 94231244 - 95409705 95411526 - 100129259 ABBA01027204;AL137061;AMYH01005302;NG_009642 pseudo 37631 INFERRED 2801633 BRD7P6 bromodomain containing 7 pseudogene 6 2 2 2 p13.3 70419904 70433726 + 70422731 70436554 + 70569227 70583050 + 100128042 ABBA01075536;AC022201;AMYH01010425;NG_016161 pseudo 37632 INFERRED 1626540 BRD7P3 bromodomain containing 7 pseudogene 3 6 6 6 q22.31 119565861 119568334 + 118929287 118931702 + 118822536 118825009 + 6480464 12477932;10526152;21076409 23629 ABBA01026028;AF167351;AMYH01016623;BC033937;NG_021248;NR_002730;Z99496 AAD46658 Hs.648050 1735290 D3S2934E BP75;MGC42164 pseudo 24171 VALIDATED 1318974 BRD3 bromodomain containing 3 This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008] 9 9 9 q34 107443656 107481364 - 135887784 135922913 - 136895427 136933141 - 1580863;6480464 18406326;17934517;17081983;16008511;15489334;15302935;15164053;12600283;12477932;12371535;9373153;9110174;8781126;8619474;7584044;21555453;19454010;21832049;22939629;22779921;21555454;19322201;21900206;22035730;22139419 8019 A9J571;A9J575;Q15059 AA766480;ABBA01021990;ABBA01021991;AC000391;AC002105;AC002323;AF052138;AK026880;AK123322;AK299519;AL445931;AL591386;AMYH01021816;AMYH01021817;AW409970;AY513270;BC010699;BC030095;BC032124;BI545861;CH471090;D26362;DW413353;NM_007371;Z81330 AAH32124;AAS82952;BAA05393;BAG61471;EAW88113;EAW88114;EAW88115;NP_031397;Q15059 Hs.522472;Hs.654869 1697700;1738321;1856076;1857212;2131605;2132497;2132499;2151781;2157493;2166686 A006H47;D11S4285;D9S1018E;D9S1348;D9S2059;G20827;RH102366;RH25279;STS-D26362;STS-W74619 FLJ23227;FLJ41328;KIAA0043;ORFX;RING3L OTTHUMP00000022724;OTTHUMP00000022725;RING3-like protein;bromodomain-containing 3;bromodomain-containing protein 3 APPROVED protein-coding ENSG00000169925 1104 03327 601541 REVIEWED 1316385 BRD4 bromodomain containing 4 The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] 19 19 p13.1 15209301 15252262 - 15348301 15391262 - 1580863;6480464 22120039;22645123;22334664;17474147;18305892;19211738;19129460;19103749;19038968;18971272;18500820;18039861;17934517;17690245;17686863;17626100;17189190;17081983;17023018;16940503;16921027;16611886;15994877;15795266;15456879;15302935;15231748;15109495;15057824;12543779;12477932;12192049;11733348;10938129;12840145;16109376;16169070;16980611;17643375;18029348;19553317;19596781;19846528;20036832;20201073;19336002;17189189;20676058;23041316;16055720;23086925;22939629;23027873;23317504;23365439;23728299;21555454;21652721;21139048;21693764;21890473;22084242;21252943;19766566;21030982;21900206;22035730;19471022;21964340;22623531;19322201;23144621;16109377;21149631;23115324;18996376;21360054 23476 M0QYW0;M0QZD9;M0R0H4;O60885 ABBA01051106;ABBA01051107;ABBA01051108;AC003111;AC004798;AF386649;AK307664;AMYH01009545;AMYH01009546;AMYH01009547;BC000156;BC008354;BC030158;BC035266;BC038988;BC047888;BC067129;BC091649;CH471106;NM_014299;NM_058243;Y12059 AAC27978;AAH00156;AAH08354;AAH30158;AAH35266;AAH38988;AAH47888;AAH67129;AAH91649;AAL26987;CAA72780;EAW84469;EAW84470;EAW84471;EAW84472;EAW84473;NP_055114;NP_490597;O60885 Hs.187763 1660009;1671587;1671589;1686694;2123482;2123484;5491268 A001Y01;A006J46;G19768;G20884;MARC_6953-6954:992007586:1;RH69303;RH91446 CAP;HUNK1;HUNKI;MCAP bromodomain-containing 4;bromodomain-containing protein 4;chromosome-associated protein APPROVED protein-coding ENSG00000141867 13575 10574 608749 REVIEWED 1316511 BRD9 bromodomain containing 9 5 5 5 p15.33 905000 934089 - 916856 945915 - 863850 892939 - 737633;6480464 12477932 15489334;14702039;12975309;12601173;18559093;20379614;19471022;21555454;21693764 65980 B4DXI2;C9JBY0;F2Z2E8;H0YAW8;H0YBF1;H0YBR9;H0YBX9;Q9H7R9 ABBA01034224;ABBA01034225;ABBA01034226;AC122719;AK023503;AK024392;AK026830;AK125518;AK297573;AK299157;AK301987;AL833925;AMYH01014848;AW151055;AY211916;AY358630;BC007217;BC041590;BX648703;CH471102;DQ248311;NM_001009877;NM_023924;NR_027633 AAH41590;AAO65169;AAQ88993;ABB55266;ABZ92051;BAB14591;BAB14907;BAB15565;BAG59964;BAG61205;BAG63394;CAD38781;EAX08187;EAX08188;EAX08189;EAX08190;EAX08191;EAX08192;EAX08193;NP_001009877;NP_076413;Q9H8M2 Hs.449278 1675999 RH80453 DKFZp434D0711;DKFZp686L0539;FLJ43530;LAVS3040;PRO9856 OTTHUMP00000214520;OTTHUMP00000214523;bromodomain-containing protein 9;rhabdomyosarcoma antigen MU-RMS-40.8;sarcoma antigen NY-SAR-29 protein-coding ENSG00000028310 25818 12532 VALIDATED 1350574 BRD2 bromodomain containing 2 This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene. [provided by RefSeq, Dec 2010] 6 6 p21.3 33044415 33057059 + 32936437 32949282 + 1358444;1580863;6480464 12830434 17166848;9693039;18406326;17999746;17848202;17148447;17111193;17081983;16940503;16786191;16516380;16512664;16344560;15548137;15489334;15342556;15302935;14731392;14702039;14574404;14563639;12600283;12477932;12366783;12145330;11983150;11502199;10965846;10934046;9373153;8781126;8595877;1663500;1352711;1350857;15949438;20587610;15146197;20709061;19204726;19851445;19953286;20036832;20048151;19454010;20811636;22766109;19766566;22035730;21139048;21555454;23255218;23455922;21608014;19322201;23115324 6046 B0S7P1;B0V072;B0V073;E9PIQ3;E9PKQ9;H0Y6K2;H0Y799;H0YDJ7;J3QR72;Q63HQ9;Q658Y7;Q6P3U2 ABBA01038136;ABBA01038137;AF107699;AI983495;AK056504;AL645941;AL662845;AL805913;AL832722;AL935042;AMYH01016239;BC000477;BC001885;BC007715;BC063840;BP271262;BX005422;BX647233;BX648109;BX664702;BX908719;CH471081;CN398334;CR752645;CR759798;CR759829;CR936909;D42040;DA127395;DA505721;DC379337;H11588;M80613;NM_001113182;NM_001199455;NM_001199456;NM_005104;NR_037625;S78771;X62083;X96670;Z84497;Z96104 AAA68890;AAD24963;AAH63840;BAA07641;CAA43996;CAA65450;CAC69989;CAH56171;CAH56179;CAH56208;EAX03662;EAX03663;EAX03664;EAX03665;EAX03666;NP_001106653;NP_001186384;NP_001186385;NP_005095;P25440 Hs.75243 1789328;1790881;1791013;1856506;2119275;2143625;2160325;2175877;2182065;2189715;2190309;2190311;2190313;2190317;2190319;2190321;2190323;2190325;2190327;2190329;2190331;2190333;2190335;2190337;2190339;2190341;2217074;2220316;5127045 A008D22;BRD2_3857;CGCb250;CGCb278;CGCb369;CGCb535;CGCb688;CGCb741;CGCb781;CGCb787;CGCb908;CGCbi2;CGCbi4-2;CGCbpr;CGCbx13;CGCbx3;CGCbx4;CGCbx9;D6S1894;D6S2656;G67884;M2_2_23;NIB1722;RH18121;RH79050;RING3-CA;RING3CA;SGC31960;STS-T87864 D6S113E;DKFZp686N0336;FLJ31942;FSH;FSRG1;KIAA9001;NAT;RING3;RNF3 O27.1.1;OTTHUMP00000029350;OTTHUMP00000178757;OTTHUMP00000178758;OTTHUMP00000178759;bromodomain-containing 2;bromodomain-containing protein 2;female sterile homeotic-related gene 1;really interesting new gene 3 protein APPROVED protein-coding ENSG00000204256 1103 03326 601540 REVIEWED 1320478 BRD7 bromodomain containing 7 This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] 16 16 q12 48910442 48960330 - 50352929 50402845 - 6480464 12489984;11025449;10526152;19111069;18809673;18778484;18772500;17081983;16792505;16786191;16475162;16265664;15489334;15137061;14702039;12918109;12766061;12600283;12477932;16169070;12941796;15383276;19505873;20211142;16344560;18329849;19909775;20215511;20228809;20660729;20561408;20130577;20360068;22008115;22015043;21139048;21890473;19471022;20305087;21873788;22864638;23110154 29117 I3L0Y7;I3L4V5;Q9NPI1 ABBA01000874;ABBA01000875;AC007493;AC007597;AC023826;AF152604;AF213969;AJ271881;AK027308;AK074613;AMYH01007659;AW615116;BC001611;BC050728;BC094706;CD677718;CH471092;DA645362;NG_023418;NM_001173984;NM_013263 AAF19526;AAF75126;AAH01611;AAH50728;AAH94706;BAB55031;BAC11089;CAB72445;EAW82756;EAW82757;EAW82758;EAW82759;NP_001167455;NP_037395;Q9NPI1 Hs.437894 1680212;1683371;1735290;1857830;2144750;2151134 D3S2934E;RH12903;RH18317;RH68546;SHGC-2534;SHGC-64341 BP75;CELTIX1;NAG4 75 kDa bromodomain protein;OTTHUMP00000164222;OTTHUMP00000164223;bromodomain protein;bromodomain-containing 7;bromodomain-containing protein 7;protein CELTIX-1 APPROVED protein-coding ENSG00000166164 14310 REVIEWED 1315939 BRD8 bromodomain containing 8 The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Three alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 5 5 q31 137503358 137542257 - 137475459 137514358 - 6480464 9368056;8611617;14966270;18029348;17081983;16964243;16571680;15647280;15489334;15302935;15196461;12963728;12477932;11230166;11161817;10517671;8125298;15949438;15070733;16387653;19787264;20051959;20308539;17573780;19553677;20332121;20946988;23064015;20360068;19471022;21139048;21693764 10902 B5MCW3;C9JV05;D6RID0;F8W820;F8WBH2;F8WCS7;F8WDX5;H0Y8F9;H0YA84;H0YAH7;H7C026;H7C127;H7C128;H7C179;H7C2P4;Q9H0E9 AB209079;ABBA01068692;AC109442;AC113382;AF016270;AK225928;AK289951;AK293621;AK297608;AK297756;AK310380;AK312333;AL136823;AL704983;AMYH01015641;BC008039;BC008076;BU187982;CH471062;NM_001164326;NM_006696;NM_139199;X87613;X94234 AAB87858;AAH08039;AAH08076;BAD92316;BAF82640;BAG35254;BAG57080;BAG59991;BAG60105;CAA60949;CAA63925;CAB66757;EAW62159;EAW62160;EAW62161;EAW62162;NP_001157798;NP_006687;NP_631938;Q9H0E9 Hs.519337 1655110;1655112;1681107;1754007;2107897;2115125;5022651 A006J23;BRD8_7982;D11S2921;D5S2603;G20870;RH99254;SHGC-132052 SMAP;SMAP2;p120 OTTHUMP00000159491;OTTHUMP00000197553;OTTHUMP00000197554;OTTHUMP00000197555;OTTHUMP00000197556;OTTHUMP00000197557;bromodomain-containing protein 8;skeletal muscle abundant protein 2;thyroid hormone receptor coactivating protein of 120 kDa;trCP120 APPROVED protein-coding ENSG00000112983 19874 04166 602848 REVIEWED 6769959 BRE-AS1 BRE antisense RNA 1 2 p23 28112323 28113981 - 16344560;12477932;17113583 100302650 ABBA01045223;AC021171;AMYH01010200;AW080339;BC014088;DA582634;DR978411;DR980668;NR_028308 Hs.729719 APPROVED miscrna 44171 VALIDATED 2292094 BREA2 breast cancer estrogen-induced apoptosis 2 8 8 8 q24.3 141090217 141091515 + 144851480 144852166 + 144779285 144780583 + 12477932 286076 Q8NDL7 ABBA01005243;AC105219;AL833948;AMYH01019111;AY940073;BC132838;BC132840;CH471162;NR_015445 CAD38802;EAW82209 Hs.178095 miscrna 18592 VALIDATED 1626266 BRI3P1 brain protein I3 pseudogene 1 1 1 1 p21.2 98935604 98936350 + 100451437 100452115 + 100678760 100679506 + 730010 ABBA01045444;AL445928;AMYH01000825;NG_009718;NG_011852 1703246 SGC31939 pseudo 33533 INFERRED 1626269 BRI3P2 brain protein I3 pseudogene 2 12 12 12 p12.1 30266976 30267353 - 25011328 25011705 - 25120061 25120438 - 441630 ABBA01068014;AC026310;AMYH01004338;NG_009662 pseudo 32543 INFERRED 1315431 BRDT bromodomain, testis-specific BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 1 1 1 p22.1 90661426 90726420 + 92187720 92252573 + 92414928 92479985 + 6480464 18654987;9367677;10365964;15647849;15489334;12861021;12477932;11076863;10704737;18029348;20378615;20379614;20538714;16344560;22035730;22505724 676 C9J0Z0;C9J1F7;C9JD82;C9JDL5;C9JJU3;C9JLZ2;C9JMP1;C9JQ27;F8VZ63;F8W0H2;Q6P5T1 ABBA01045554;ABBA01045555;ABBA01045556;AC114486;AF019085;AK302758;AK303008;AK316442;AMYH01000794;AY338951;BC005281;BC017582;BC028126;BC038844;BC047900;BC062700;BG717291;BX648135;CH471097;DB072781;DC401352;DC402057;NM_001242805;NM_001242806;NM_001242807;NM_001242808;NM_001242810;NM_001726;NM_207189 AAB87862;AAH05281;AAH17582;AAH47900;AAH62700;AAI11928;AAI18499;AAQ16198;BAH13797;BAH13876;BAH14813;EAW73106;EAW73107;EAW73108;EAW73109;EAW73110;EAW73111;NP_001229734;NP_001229735;NP_001229736;NP_001229737;NP_001229739;NP_001717;NP_997072;Q58F21 Hs.482520 1693244 AL033575 BRD6;CT9 OTTHUMP00000011809;OTTHUMP00000011810;OTTHUMP00000197577;RING3-like protein;bromodomain testis-specific protein;cancer/testis antigen 9 APPROVED protein-coding ENSG00000137948 1105 03684 602144 REVIEWED 5686950 BRI3P3 brain protein I3 pseudogene 3 17 p11.2 17884503 17884884 - 100101554 ABBA01009742;AC087163;AMYH01008162;NG_032028 pseudo 32544 INFERRED 1318806 BRF2 BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008] 8 8 8 p11.23 36652978 36659011 - 37820558 37826569 - 37701398 37707431 - 1580863;6480464 17353931;16227591;14702039;12621023;12477932;11564744;11483580;11121026;11040218;10330166;16344560;18700021;20668658;21906983 55290 E5RGF6;E5RGX1;Q9HAW0 AA496239;ABBA01023567;AC130304;AC138356;AF130058;AF206673;AF298153;AK001914;AK294337;AK315420;AMYH01018651;BC010648;CH471080;DA688249;NM_018310 AAG30222;AAG35486;AAG35669;AAH10648;ABZ92043;BAA91975;BAG37809;BAG57607;EAW63351;EAW63352;EAW63353;NP_060780;Q9HAW0 Hs.709301 1667471;2127573;2217078 BRF2_3601;SGC33756;SHGC-57648 BRFU;FLJ11052;TFIIIB50 B-related factor 2;BRF-2;OTTHUMP00000225611;OTTHUMP00000225612;RNA polymerase III transcription initiation factor BRFU;hBRFU;hTFIIIB50;transcription factor IIB- related factor, TFIIIB50;transcription factor IIIB 50 kDa subunit APPROVED protein-coding 17298 06115 607013 REVIEWED 1343026 BRE brain and reproductive organ-expressed (TNFRSF1A modulator) 2 2 p23.2 27966986 28415272 + 28113482 28561768 + 1580863;6480464 7826398;19015238;11676476;19261749;14636569;15465831;19261748;9737713;17525341;19261746;19214193;18756325;17704801;16713569;16189514;15582573;15489334;14702039;12477932;11259452;17353931;19615732;19757177;20035718;20379614;18029348;20861917;21282113;22863883;22990118;16196087;21577200;20656689;21937695;22689573;21987572;22555662;12938929;20972266;21139048;21890473;21906983;21963094;23128233;23211528;19380743;22505724;22797925 9577 C9J2G0;F8W733;Q96P06 ABBA01045223;ABBA01045224;ABBA01045225;ABBA01045226;ABBA01045227;ABBA01045228;AC021171;AC093690;AC096552;AC104695;AF015767;AF420602;AF420603;AF420604;AF420605;AK000097;AK098345;AK123076;AK291086;AL566299;AMYH01010200;AMYH01010201;AMYH01010202;AMYH01010203;AY438031;BC001251;BG422104;BG422293;BI559404;BU172408;CH471053;CR994399;L38616;NM_001261840;NM_004899;NM_199191;NM_199192;NM_199193;NM_199194 AAA64231;AAB69387;AAH01251;AAL17814;AAL17816;AAL17817;AAL17818;AAR30499;AAX88935;AAY24156;ABM82190;ABM85377;BAA90943;BAC85532;BAF83775;EAX00542;EAX00543;EAX00544;EAX00545;EAX00546;EAX00547;EAX00548;NP_001248769;NP_004890;NP_954661;NP_954662;NP_954663;NP_954664;Q9NXR7 Hs.258314 1336633;1656230;1660900;1661498;1724079;1734864;1749975;2137288;2156198;2186804;2218316 BRE_4464;D2S1615E;D2S1980;D2S223;D2S2556;D2S2920;RH118779;RH48736;RH66226;RH70472;SHGC-111684 BRCC4;BRCC45 BRCA1-A complex subunit BRE;BRCA1/BRCA2-containing complex subunit 45;BRCA1/BRCA2-containing complex, subunit 4;OTTHUMP00000123504;OTTHUMP00000123505;OTTHUMP00000123506;OTTHUMP00000123507;OTTHUMP00000123508;brain and reproductive organ-expressed protein protein-coding ENSG00000158019 1106 08498 610497 VALIDATED 1322467 BRF1 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011] 14 14 q 104746668 104838374 - 105675623 105781914 - 1580863;6480464 8943358;7624363;18700021;18326031;17968325;17877750;17499043;17369404;17081983;16982688;16713569;15538381;15489334;14702039;12711686;12477932;12198173;12066800;12016223;11997511;10921893;10523658;10373544;10330166;9171375;9169441;8943363;21832049;20154270;20211142;21044367;11809839;21106530;21693764;21890473;17043677;21832157;23314748;22139419 2972 A3KN61;B3KWA2;F8VQ19;F8VS45;F8VWT8;F8VWY1;F8VXJ4;F8W123;H0YIV6;Q3SYD7;Q5PR24 ABBA01008866;ABBA01008867;ABBA01008868;ABBA01008869;ABBA01008870;ABBA01008871;ABBA01008872;AJ297406;AJ297407;AJ297408;AK096471;AK124665;AK125024;AK294899;AK295579;AL512355;AL540823;AMYH01006077;AMYH01006078;AMYH01006079;BC016743;BC071637;BC086856;BC103859;BC103860;BC103861;BC133655;BX440529;CH471061;N91109;NG_029489;NM_001242786;NM_001242787;NM_001242788;NM_001242789;NM_001242790;NM_001519;NM_145685;U28838;U75276 AAB38876;AAC50170;AAH16743;AAH71637;AAH86856;AAI03860;AAI03861;AAI03862;AAI33656;BAC86024;BAG53298;BAG54064;BAG58477;BAH11919;CAC04512;CAC04513;CAC04514;EAW81906;EAW81907;EAW81908;EAW81909;EAW81910;EAW81911;EAW81912;NP_001229715;NP_001229716;NP_001229717;NP_001229718;NP_001229719;NP_001510;NP_663718;Q92994 Hs.424484 1712274;2117436;2120107;2159976;2165486;2173980;2217076 BRF1_3377;G35352;G35414;G35829;G54046;RH79138;SGC31908 BRF;BRF-1;FLJ42674;FLJ43034;GTF3B;MGC105048;TAF3B2;TAF3C;TAFIII90;TF3B90;TFIIIB90;hBRF B - related factor 1;B-related factor 1;BRF-1;BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB;OTTHUMP00000028454;OTTHUMP00000163910;OTTHUMP00000243596;OTTHUMP00000243598;OTTHUMP00000243600;OTTHUMP00000243601;OTTHUMP00000243607;TATA box binding protein (TBP)-associated factor 3C;TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2;TATA box binding protein (TBP)-associated factor, RNA polymerase III, subunit 2;TATA box-binding protein-associated factor, RNA polymerase III, subunit 2;TBP - associated factor, RNA polymerase III, 90kD;general transcription factor IIIB, 90kD subunit;hTFIIIB90;transcription factor IIIB 90 kDa subunit APPROVED protein-coding ENSG00000185024 11551 05361 604902 REVIEWED 1602822 BRICD5 BRICHOS domain containing 5 16 16 16 p13.3 2473671 2475428 - 2199255 2201012 - 2259254 2261069 - 12477932;17207965 283870 H3BV65;Q6PL45 ABBA01030269;AC009065;AMYH01007055;AY597811;BC039154;CH471112;DN992777;NM_182563 AAH39154;AAT09004;ADQ31629;EAW85535;EAW85536;NP_872369;Q6PL45 Hs.647399 1664128;1722265;1736574;2146291 D16S2568E;G60043;STS-W72364;WIAF-1628 C16orf79;MGC21830 BRICHOS domain-containing protein 5;BRICHOS domain-containing protein C16orf79;OTTHUMP00000159050;chromosome 16 open reading frame 79 APPROVED protein-coding 28309 14482 VALIDATED 1319388 BRI3 brain protein I3 7 7 7 q21.3 92604881 92616177 + 97748923 97758775 + 97910979 97922275 + 1580863;6480464 19366692;18452648;17390049;16508092;16341674;15489334;14592447;12477932;11860200;9847074;8076819;20538055;15606899 25798 F5GXW6;I3L1V6;O95415 AACC02000085;AB055977;ABBA01045731;AC091654;AC093169;AF041430;AF106966;AMYH01017714;BC018737;BC062370;BF108440;BF432881;BQ018487;BQ083249;CB054862;CB528682;CH236956;CH471091;NM_001159491;NM_015379 AAD05167;AAF18565;AAH18737;AAH62370;ADR82701;BAB32785;EAW76713;EAW76714;EAW76715;NP_001152963;NP_056194;O95415 Hs.567438 1689771;1703246 RH79669;SGC31939 I3 OTTHUMP00000205442;brain protein I3;pRGR2 protein-coding ENSG00000164713 1109 16562 VALIDATED 6480930 BRK1P2 BRICK1, SCAR/WAVE actin-nucleating complex subunit pseudogene 2 13 91675997 91676205 - 100874492 ABBA01027239;AL512659;AMYH01005286;NG_032391 pseudo 42021 INFERRED 1348808 BRI3BP BRI3 binding protein 12 12 12 q24.31 125079837 125113892 + 124044147 124076302 + 125478194 125510349 + 1580863;6480464 17765869;15489334;14702039;12477932;11860200;21182205;21139048;21890473 140707 Q8IX35;Q8WY22 ABBA01060353;AC093719;AC122688;AF283671;AF284094;AF441865;AK055703;AMYH01004853;AMYH01004854;BC034525;CA488612;CH471054;NM_080626 AAH34525;AAL33003;AAL54382;AAN76689;EAW98470;EAW98471;NP_542193;Q8WY22 Hs.596464 1661598;1667020;1789104;2218318;5015861;5037552;7185938 BRI3BP_4465;D10S16;D8S2279;G65686;RH66758;STS-AA017225 BNAS1;HCCR-1;HCCR-2;HCCRBP-1;KG19 BRI3-binding protein;HCCR-1;I3-binding protein;OTTHUMP00000239024;cervical cancer 1 proto-oncogene-binding protein KG19;cervical cancer oncogene binding protein protein-coding 14251 09829 VALIDATED 1352710 BRINP1 bone morphogenetic protein/retinoic acid inducible neural-specific 1 This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008] 9 9 q32-q33 120968729 121171560 - 121928908 122131739 - 1580863;6480464 9545632;12442002;14712213;11420708;19506219;18264085;17660530;16369496;15746151;15643521;15489334;15164053;12477932;10469456;10444335;9175739;7757816;19218236;19834503;20070850;20074560;20379614;20429629;21056897;18235502;22465953;18029348;15193422;14676191;21030595;21532573;18235501;21988832;23382074;22446626;23398316;23349863 1620 O60477 ABBA01016259;ABBA01016260;ABBA01016261;ABBA01016262;ABBA01016263;AC006239;AF027734;AK293501;AK293649;AL138894;AL353773;AMYH01021685;BC021560;BC065196;BC071702;CH471090;NM_014618;Z41452 AAC39691;AAH21560;AAH65196;AAH71702;BAG56986;BAG57101;EAW87455;EAW87456;NP_055433;O60477 Hs.532316 BRINP1;DBC1;DBCCR1;FAM5A OTTHUMP00000022751;OTTHUMP00000022752;bA574M5.1 (deleted in bladder cancer chromosome region candidate 1 (IB3089A));deleted in bladder cancer 1;deleted in bladder cancer chromosome region candidate 1;deleted in bladder cancer protein 1 APPROVED protein-coding ENSG00000078725 2687 04181 602865 VALIDATED 1605645 BRINP2 bone morphogenetic protein/retinoic acid inducible neural-specific 2 1 1 1 q24 150250704 150361628 + 175407256 175518181 + 177140633 177251558 + 6480464 16710414;15489334;14702039;12477932;11214970;9110174;8619474;15193423;20972266 57795 Q9C0B6 AB051534;AB161694;ABBA01027857;AF131833;AK098386;AK123336;AK296524;AL021398;AL022143;AL035289;AMYH01001519;BC028036;CH471067;NM_021165 AAD20055;AAH28036;BAB21838;BAC85583;BAD34946;BAG59155;CAA22893;EAW91009;NP_066988;Q9C0B6 Hs.495918 1692982;1735088;2111998;2155555;2171063 AL034208;D1S1826E;D1S3663;SHGC-75941;WI-15575 BRINP2;DBCCR1L2;FAM5B;FLJ41342;KIAA1747;RP5-1026E2.1 BMP/retinoic acid-inducible neural-specific protein 2;DBCCR1-like protein 2;DBCCR1-like2;OTTHUMP00000032889;family with sequence similarity 5, member B;protein FAM5B APPROVED protein-coding ENSG00000198797 13746 13891 PROVISIONAL 1314372 BRMS1L breast cancer metastasis-suppressor 1-like The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). [provided by RefSeq, Jul 2008] 14 14 14 q13.2 16159459 16205033 + 35365348 35410920 + 36295597 36341169 + 6480464 15451426;14702039;12477932;16387653;17207965;19471022;21890473 84312 B2RD65;F8VRR2;H0YHD0;Q5PSV4 AA836514;ABBA01061510;ABBA01061511;ABBA01061512;AK096496;AK297106;AK309431;AK310359;AK315424;AL162311;AMYH01005669;AY827074;BC006250;BU507838;CH471078;NM_032352 AAH06250;AAV83797;ADQ32328;BAG37812;BAG53305;BAG59617;EAW65867;NP_115728;Q5PSV4 Hs.525299 1770477;1783040;2163270;2176461 A007C23;G36155;HSCZPC082;SHGC-144194 BRMS1;MGC11296 BRMS1-homolog protein p40;BRMS1-like protein p40;OTTHUMP00000244013;OTTHUMP00000244020;breast cancer metastasis-suppressor 1-like protein APPROVED protein-coding ENSG00000100916 20512 16564 REVIEWED 1352437 BRK1 BRICK1, SCAR/WAVE actin-nucleating complex subunit 3 3 3 p25.3 10093000 10104540 + 10132333 10143874 + 10157333 10168874 + 6480464;6484113 17311301;15489334;15048733;14695531;12477932;12181570;9463375;8605018;22318606;19576655;19764026;20861187;22863883;21900206;21890473;21906983;22505724 55845 F5H577;Q8WUW1 ABBA01020389;ABBA01020390;ABBA01020391;AC034193;AF161418;AF220047;AK290580;AK312155;AMYH01012969;AY148219;AY148220;BC001067;BC007929;BC019303;BC061515;CH471055;NM_018462 AAF28978;AAF67640;AAH01067;AAH07929;AAH19303;AAN60161;AAN60162;ABM83882;ABM87202;ABW03861;BAF83269;BAG35089;EAW64060;EAW64061;NP_060932;Q8WUW1 Hs.649307 1672014;1685103;1772639 RH41855;RH78271;WI-14152 C3orf10;HSPC300;MDS027;hHBrk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit, homolog;Brk1-like;OTTHUMP00000230721;haematopoietic stem/progenitor cell protein 300;probable protein BRICK1;protein BRICK1 APPROVED protein-coding ENSG00000254999 23057 12818 611183 VALIDATED 1605358 BRIX1 BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) 5 5 5 p13.2 34798052 34808019 + 34951577 34961544 + 34915820 34925787 + 6480464 17353931;15489334;14702039;12477932;11843177;11790298;16169070;21145461;22586326;21110914;19454010;22939629;18029348;12777385;21900206;21139048;21907836;21628590;22797925 55299 Q8TDN6;Q9NUW4 ABBA01039263;AC026801;AF347667;AK001962;AK289610;AK303311;AK307492;AMYH01015022;AY364243;AY364244;BC001546;BC006014;BC036741;BX648902;CH471119;NM_018321 AAH01546;AAH06014;AAH36741;AAL83818;AAQ76802;AAQ76803;ABM83034;ABM86228;BAA92003;BAF82299;BAG64380;EAW55909;EAW55910;NP_060791;Q8TDN6 Hs.718510 1681452;1789989;2190551;2218738;5017817;5024761;5037552 BRIX__4467;BXDC2;D8S2279;EST25A6;RH36905;RH94085;csnprad1-pcr1-1 BRIX;BXDC2;FLJ11100 OTTHUMP00000221047;brix domain containing 2;brix domain-containing protein 2;ribosome biogenesis protein BRX1 homolog APPROVED protein-coding 24170 16563 VALIDATED 1316979 BRIP1 BRCA1 interacting protein C-terminal helicase 1 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008] 17 17 q22.2 57114767 57295537 - 59756547 59940920 - 1580863;1600525;6480464;7240710 11301010 15878853;14576433;14504288;19584272;19536649;19484476;19150983;19127258;19124506;19116388;19064572;19064565;19012493;19011769;18978354;18950845;18676680;18628483;18557994;18483852;18426915;18414782;18345034;18270339;17664283;17596542;17581638;17557904;17504528;17342202;17033622;16485136;16430786;16153896;16116424;16116423;16116421;15489334;15302935;15133502;15125843;15113441;14983014;14702039;12872252;12565990;12477932;11920628;11595410;15242590;15208681;14578343;11877378;18717574;22582397;22792074;19714462;19913121;20332657;20567916;20587610;20628086;20639400;17148452;17525341;17525342;19170196;19419957;19504183;19625176;19690177;19692168;19748364;19763819;19935797;20150366;20173781;20676667;17525340;20978114;20159562;21240188;21127055;21165771;22412018;23644138;21409391;21964575;22137763;22678362;22692731;21139048;21890473;21906983;20451671;20681793;20301425;20301575;18029348;23473757;21963094;22526901;18285836;19452558;22032289;20159462;22797925;23157317;23225146;23530059 83990 J3KS24;J3QKX0;J3QQP5;J3QSE8;Q9BX63 ABBA01035376;ABBA01035377;ABBA01035378;ABBA01035379;ABBA01035380;AC002994;AC005969;AC060798;AF360549;AK074713;AMYH01008534;AMYH01008535;AMYH01008536;BC101472;BC101474;CH471179;NG_007409;NM_032043 AAI01473;AAI01475;AAK38111;ADR83292;BAC11156;EAW51430;EAW51431;EAW51432;EAW51433;NP_114432;Q9BX63 Hs.128903 1690113;1710154;1783630;2218320;5014051;5015619;5015861;5015961;5016596;5021872;5022651;5037552;7185938 BRIP1_4466;D10S16;D11S2921;D11S3114;D15S1477;D8S2278;D8S2279;GDB:631802;RH92304;SHGC-172093;SHGC-82334;sY3084 BACH1;FANCJ;FLJ90232;MGC126521;MGC126523;OF ATP-dependent RNA helicase BRIP1;BRCA1-associated C-terminal helicase 1;BRCA1-binding helicase-like protein BACH1;BRCA1-interacting protein 1;BRCA1-interacting protein C-terminal helicase 1;BRCA1/BRCA2-associated helicase 1;Fanconi anemia group J protein APPROVED protein-coding 20473 05797 114480;605882;609054 REVIEWED 733512 BRS3 bombesin-like receptor 3 The protein encoded by this gene is a G protein-coupled membrane receptor that binds bombesin-like peptides. This binding results in activation of a phosphatidylinositol-calcium second messenger system, with physiological effects including regulation of metabolic rate, glucose metabolism, and hypertension. [provided by RefSeq, Sep 2011] X X q26.3 135397791 135402264 + 135570125 135574598 + 734661;1580863;6480464 9367152 8383682;17714959;17355223;16979789;15772651;12102638;9593699;8822519;8131855;19913121;20628086;22127929;21878513 680 P32247;Q9UQK4 ABBA01055912;AF117712;AMYH01023049;AY585193;CH471150;L08893;NM_001727;X76498;Z97632 AAA35604;AAD21615;AAI52939;AAT79496;CAA54031;EAW88470;NP_001718;P32247 Hs.121484 1657518;1683056;2219040 BRS3_3941;RH79932;STS-L08893 BRS-3;G-protein coupled receptor;OTTHUMP00000024342;bombesin receptor subtype 3;bombesin receptor subtype-3 APPROVED protein-coding 1113 02116 300107 REVIEWED 1322310 BRMS1 breast cancer metastasis suppressor 1 This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 11 11 q13-q13.2 65861380 65869158 - 66104804 66112582 - 1580863;2289400;6480464 15592684 16919237;19405953;19307053;19165610;19111386;19052374;18841483;18664570;18566899;18543067;18502034;18470911;18276787;18211900;17896182;17854218;17227585;15867352;15705865;15489334;15451426;15168732;14581478;12650606;12477932;12414911;11822878;11774238;10850410;8889548;16169070;18533556;19621595;20083343;19609101;16449650;17000776;21056991;17085653;16712791;20935672;20830743;21832049;22927944;21737612;21355308;21827753;22085717;21906983;22931099;23167184;23500495;21726917;21926972;22200669;22239051;21258344;23269275;23390556;23752268 25855 E9PJF5;E9PPD1;G5E9I4;H0YCF7;Q9HCU9 ABBA01024083;AF147350;AF159141;AF281036;AI797564;AK310991;AK313773;AL050008;AMYH01003733;AP001107;BC009834;BM312965;BU734281;CB130346;CB529276;CH471076;CR457173;NM_001024957;NM_015399 AAG00075;AAH09834;AAK69131;BAG36511;CAB43235;CAG33454;EAW74513;EAW74514;EAW74515;EAW74516;NP_001020128;NP_056214;Q9HCU9 Hs.100426 1671534;1767608 STS-W44699;WI-20154 DKFZp564A063 OTTHUMP00000235056;OTTHUMP00000235057;OTTHUMP00000235060;OTTHUMP00000235062;breast cancer metastasis-suppressor 1 APPROVED protein-coding ENSG00000174744 17262 05879 606259 REVIEWED 6481300 BRWD1-AS1 BRWD1 antisense RNA 1 21 40687633 40695144 + 16344560 100874093 ABBA01009343;ABBA01009344;AF064861;AMYH01012248;DB057251;NR_046655 Hs.588102 2203094 stSG622696 APPROVED miscrna ENSG00000238141 40614 PREDICTED 1606705 BROX BRO1 domain and CAAX motif containing 1 1 1 q41 196105074 196125277 + 220952529 220972732 + 222885906 222906109 + 6480464 18190528;17411337;14702039;12477932;11181995;19403673;22162750;21139048;21890473 148362 B7Z9G5;F5GXQ0;Q5VW32;Q5VW33 AB276123;ABBA01048046;AI243754;AI911339;AK056983;AK293974;AK304445;AK315930;AL392172;AMYH01001748;BC113635;BC113637;BC143811;CH471100;NM_144695 AAI13636;AAI13638;AAI43812;BAB71331;BAF56045;BAH11637;BAH14189;BAH14301;EAW93265;NP_653296;Q5VW32 Hs.552608 1655041;1680507;1692738;1697254 AL034126;RH102121;RH98227;SHGC-76398 C1orf58;FLJ32421;MGC142195;MGC142197;RP11-452F19.1 BRO1 domain containing protein;BRO1 domain- and CAAX motif-containing protein;BRO1 domain-containing protein BROX;Bro1-domain-containing protein;OTTHUMP00000035772 APPROVED protein-coding 26512 08725 VALIDATED 1316705 BRPF1 bromodomain and PHD finger containing, 1 The protein encoded by this gene is expressed ubiquitously and at the highest level in testes and spermatogonia. The protein is localized within nuclei, and it is very similar in structure to two zinc finger proteins, AF10 and AF17. It is suggested that these proteins form a family of regulatory proteins. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p26-p25 9708138 9724401 + 9748434 9764699 + 9773434 9789699 + 1580863;6480464 16387653;18794358;17081983;15302935;12477932;8946209;7906940;20400950;18469222;18029348;19001415;20211142;19913121;20628086;21139048;21720545;18051367 7862 C9JDK5;C9JHC0;P55201 ABBA01020400;AC022382;AF176815;AI356310;AK293865;AL713696;AMYH01012964;BC036374;BC053851;BC068262;BG704575;CH471055;M91585;NM_001003694;NM_004634 AAB02119;AAF19605;AAH53851;BAG57257;CAD28495;EAW63972;EAW63973;EAW63974;EAW63975;EAW63976;NP_001003694;NP_004625;P55201 Hs.1004 2110283;2114556;2128183;2134251 BRPF1__4469;RH47297;SHGC-76698;STS-M91585 BR140 OTTHUMP00000122529;OTTHUMP00000207277;OTTHUMP00000207278;OTTHUMP00000207279;bromodomain and PHD finger-containing protein 1;bromodomain-containing protein, 140kD;peregrin APPROVED protein-coding ENSG00000156983 14255 03875 602410 REVIEWED 1315730 BRPF3 bromodomain and PHD finger containing, 3 6 6 6 p21 37719088 37755105 + 36272528 36308545 + 36164550 36200567 + 1580863;6480464 17474147;14574404;12477932;10574462;14630798;16387653;18794358;6457647;19322201 27154 A8WI61;A8WI62;B7ZLN5;E9PI60;E9PJ12;E9PSF3;F6XDC4;H0Y7B4;H0Y7I6;Q17RB6;Q9ULD4 AB033112;ABBA01038253;ABBA01038254;AK000751;AK025134;AK025224;AK074362;AK123574;AK172787;AMYH01016271;BC033652;BC039615;BC117387;BC143917;BC143918;BC143919;CH471081;NM_015695;Z84485 AAH33652;AAI17388;AAI43918;AAI43919;BAA86600;BAA91359;BAB85060;EAX03877;EAX03878;EAX03879;EAX03880;EAX03881;EAX03882;NP_056510;Q9ULD4 Hs.520096 2121786;2150407;2173206;2218322;5024545 BRPF3_4470;D1S3695;RH46861;SHGC-16533;STS-N66794 OTTHUMP00000016287;OTTHUMP00000197589;OTTHUMP00000232921;OTTHUMP00000232922;OTTHUMP00000232924;bromodomain and PHD finger-containing protein 3 protein-coding ENSG00000096070 14256 16565 VALIDATED 1345843 BRWD1-IT2 BRWD1 intronic transcript 2 (non-protein coding) 21 21 21 q22.2 25883492 25884519 - 39607757 39608758 - 40685861 40686888 - 6480464 12036297;12477932;20494980 257357 P59051 ABBA01009344;AF064861;AF426265;AMYH01012248;AW000939;BC130301;BC130303;BM553164;CH471079;NG_029919;NR_033800 AAI30302;AAI30304;AAM53521;EAX09662;EAX09663;P59051 Hs.729612 1701576;1825080;1827686;1827824;1832586;1898586;1898588;1898590;1898592;1898594;1898596;1898598;1898600;1898602;1898604;1898606;2203092 ECD13641;ECD14964;ECD15035;ECD17433;REN20089;REN20090;REN20091;REN20092;REN20093;REN20094;REN20095;REN20096;REN20097;REN20098;REN20099;RH104422;stSG622695 C21orf87;NCRNA00257 APPROVED miscrna ENSG00000255568 16423 VALIDATED 1353238 BRSK1 BR serine/threonine kinase 1 19 19 19 q13.4 52836546 52864920 + 60487346 60515742 + 55795534 55823930 + 1580863;6480464 15150265;14976552;18854318;18339622;16630837;15489334;12477932;11347906;22131368;16306228;18029348;18254724;19448619;19448621;19648910 84446 J3KNK0;K7EM68;K7EN26;Q8TDC3 AB058714;ABBA01068109;ABBA01068110;ABBA01068111;AC008974;AC020922;AF479826;AF479827;AK124999;AL831945;AL834275;AMYH01009990;AMYH01009991;AY458602;AY505124;BC016681;CH471135;HQ830199;NM_032430 AAH16681;AAL87697;AAL87698;AAS10354;AAS86442;ADX95745;BAB47440;BAG54120;CAD38595;CAD38950;EAW72359;EAW72360;EAW72361;NP_115806;Q8TDC3 Hs.182081 2106923 20922ef FLJ43009;KIAA1811;hSAD1 BR serine/threonine-protein kinase 1;SAD1 homolog;SAD1 kinase;SadB kinase short isoform;brain-selective kinase 1;brain-specific serine/threonine-protein kinase 1;protein kinase SAD1A;serine/threonine-protein kinase BRSK1;serine/threonine-protein kinase SAD-B;synapses of Amphids Defective homolog 1 protein-coding ENSG00000160469 18994 12533 609235 VALIDATED 1345228 BRSK2 BR serine/threonine kinase 2 11 11 p15.5 1367705 1439908 + 1411129 1483919 + 6480464 14976552;18854318;18794342;18339622;16870137;16630837;16165222;15489334;15150265;14702039;12477932;11124703;9929968;9852686;18254724;20562859;20646422;16306228;16344560;22609399;22713462;22798068;23029325 9024 B4DM60;E9PLM7;E9PPI2;E9PRY3;H0YCS6;H0YES6;Q8IWQ3 ABBA01012142;ABBA01012143;ABBA01012144;AC091196;AC136297;AF020089;AF533876;AF533877;AF533878;AF533879;AF533880;AJ006701;AK074411;AK122851;AK123356;AK131534;AK297211;AK297306;AMYH01003306;AMYH01003307;AMYH01003308;AY166857;AY505125;BC017182;BC024291;BG395884;CH471158;DA059153;DR001379;NM_001256627;NM_001256629;NM_001256630;NM_003957;NR_046331;NR_046332 AAD09654;AAH24291;AAI52770;AAN87839;AAP97723;AAP97724;AAP97725;AAP97726;AAP97727;AAS86443;BAC85593;BAD18671;BAG53761;BAG59695;BAG59772;CAA07196;EAX02436;EAX02437;EAX02438;EAX02439;EAX02440;EAX02441;EAX02442;EAX02443;EAX02444;NP_001243556;NP_001243558;NP_001243559;NP_003948;Q8IWQ3 Hs.170819 1687173;1757719 RH91860;SHGC-146355 C11orf7;FLJ41362;PEN11B;SAD1;STK29 BR serine/threonine-protein kinase 2;OTTHUMP00000235105;OTTHUMP00000235106;OTTHUMP00000235107;OTTHUMP00000235108;OTTHUMP00000235109;OTTHUMP00000235112;OTTHUMP00000235113;brain-selective kinase 2;brain-specific serine/threonine-protein kinase 2;protein kinase SAD1B;serine/threonine kinase 29;serine/threonine kinase SAD-A;serine/threonine-protein kinase 29;serine/threonine-protein kinase BRSK2;serine/threonine-protein kinase SAD-A protein-coding ENSG00000174672 11405 609236 VALIDATED 5144472 BSN-AS2 BSN antisense RNA 2 (head to head) 3 3 3 p21.31 49555614 49556380 - 49566006 49566772 - 49586739 49591799 - 14702039 100132677 Q8N8P4 ABBA01024582;AC104452;AK096387;AK097709;AMYH01013159;NR_038866 BAC04774 Hs.435651 5020946;5037552;5118444 D11S3316;D8S2279;L17971 FLJ39068;FLJ40390 APPROVED miscrna ENSG00000226913 42445 VALIDATED 2306586 BSPH1 binder of sperm protein homolog 1 19 19 19 q13.33 45336802 45361003 - 53163115 53187239 - 48471303 48495427 - 19091820;18923155;17085770;15057824 100131137 Q075Z2 ABBA01033020;ABBA01033021;AC010330;AMYH01009896;DQ227497;NM_001128326 ABB71591;NP_001121798;Q075Z2 Hs.651072 BSP1;ELSPBP2 binder of sperm 1;binder of sperm protein homolog 1;bovine seminal plasma protein homolog 1;bovine seminal plasma protein-like 1;epididymal sperm binding protein 2 protein-coding ENSG00000188334 33906 612213 VALIDATED 1354337 BRWD3 bromodomain and WD repeat domain containing 3 The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene cause mental retardation X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, May 2010] X X X q21.1 80165105 80305366 - 79818339 79951889 - 79924987 80065233 - 6480464;7240710 17668385;17081983;16094372;15772651;15543602;15489334;14702039;12477932;19377476;18775313;21890473;22024541 254065 Q8N916 AA716141;ABBA01049135;ABBA01049136;ABBA01049137;ABBA01049138;ABBA01049139;ABBA01049140;ABBA01049141;ABBA01049142;ABBA01049143;ABBA01049144;ABBA01049145;ABBA01049146;ABBA01049147;AK090573;AK095887;AL512504;AL590031;AL669934;AMYH01022642;AY497046;AY497047;AY497048;AY497049;AY497050;AY497051;AY497052;AY497053;AY497054;AY497055;AY497056;AY497057;AY497058;AY497059;AY497060;BC039508;BC111490;BI825932;CB269573;NG_021349;NM_153252 AAI11491;AAS45471;AAS45472;AAS45473;AAS45474;AAS45475;AAS45476;AAS45477;AAS45478;AAS45479;AAS45480;AAS45481;AAS45482;AAS45483;AAS45484;AAS45485;BAC04641;NP_694984;Q6RI45 Hs.147027;Hs.613180 1683944;1766957;2109091 BRODL__4276;RH38736;SHGC-152486 BRODL;FLJ33254;FLJ38568;MRX93 OTTHUMP00000023606;bromo domain-containing protein disrupted in leukemia;bromodomain and WD repeat-containing protein 3;novel WD repeat domain protein APPROVED protein-coding ENSG00000165288 17342 06564 300553;300659 REVIEWED 1605672 BSDC1 BSD domain containing 1 1 1 1 p35.1 31101180 31130531 - 32603359 32632614 - 32830704 32860062 - 6480464 16710414;16341674;15489334;15342556;15203218;15146197;14702039;12975309;12477932;8125298;16169070;20360068;21139048 55108 B4DM89;C9JB13;E9PNA9;E9PQA7;E9PS77;F8W6C6;Q6MZK1 ABBA01023427;ABBA01023428;AK001138;AK021440;AK225026;AK225717;AK293454;AK297352;AK297604;AK300231;AK300306;AK304477;AK316172;AL109945;AMYH01000467;AY358230;BC010573;BC026322;BC028381;BM760887;BM995122;BP363955;BQ222609;BX641056;CD628901;CH471059;CN302967;CR457252;CR749228;NM_001143888;NM_001143889;NM_001143890;NM_018045 AAH26322;AAH28381;AAQ88597;ACE86967;ACE87657;BAA91517;BAB13825;BAG56950;BAG59801;BAG59989;BAG61999;BAG62059;BAG65290;BAH14543;CAE46029;CAG33533;CAH18084;EAX07525;EAX07526;EAX07527;EAX07528;EAX07529;EAX07530;NP_001137360;NP_001137361;NP_001137362;NP_060515;Q9NW68 Hs.353454 1694434;1768674;2127204;2132824;2145434;2145589;2154653;2162972;5093068 A007F44;A009F08;G32500;G42922;RH16033;RH41796;RH64707;SHGC-74479;SHGC-74531 DKFZp686B09139;FLJ10276;RP4-811H24.7 BSD domain-containing protein 1;OTTHUMP00000008867;OTTHUMP00000008869;OTTHUMP00000211102;OTTHUMP00000232914;OTTHUMP00000232915;OTTHUMP00000232916 protein-coding ENSG00000160058 25501 07658 VALIDATED 1345101 BRWD1 bromodomain and WD repeat domain containing 1 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011] 21 21 21 q22.2 25755073 25883187 - 39479274 39607426 - 40557404 40685712 - 6480464 16780588;14702039;12889071;12477932;12359327;10830953;9480850;8889548;21145461;16964240;20014019;20379614;16344560;21832049;18029348;15840729;18775313;19471022;21139048;21890473;22365631;22318606 54014 H0Y463;H0Y4A7;H0Y4R9;H0Y500;H0Y5I9;H7BZR9;H7C409;Q96QH0 AA807344;AB080586;AB080587;AB080588;AB080589;AB080590;AB080591;AB080592;AB080593;ABBA01009344;ABBA01009345;ABBA01009346;ABBA01009347;ABBA01009348;AF064861;AF129408;AI307266;AJ002572;AJ002574;AJ222636;AJ238214;AJ238555;AJ238556;AJ238573;AJ292465;AJ292466;AK002177;AK125906;AL109785;AL109786;AL162036;AL163279;AL558272;AMYH01012244;AMYH01012245;AMYH01012246;AMYH01012247;AMYH01012248;AU139205;BC031545;BC047058;BC064602;BC142986;BI914338;BP397411;BQ930702;CA503340;CH471079;DA792365;NG_029919;NM_001007246;NM_018963;NM_033656 AAH64602;AAI40080;AAI42987;BAD74071;BAD74072;BAD74073;BAD74074;BAD74075;BAD74076;BAD74077;BAD74078;CAA10896;CAB90452;CAC37033;CAC44371;CAC44372;EAX09657;EAX09658;EAX09659;EAX09660;EAX09661;NP_001007247;NP_061836;NP_387505;Q9NSI6 Hs.627139;Hs.654740 1335362;1652096;1675774;1683549;1701576;1739157;1799228;1799464;1799668;1800372;1800472;1800520;1800580;1800632;1800668;1800946;1801096;1801288;1802570;1803578;1803614;1803616;1804090;1805072;1805410;1805894;1806204;1806598;1807646;1807792;1808764;1808838;1809352;1809592;1810370;1810714;1811826;1812476;1812826;1812958;1814578;1814944;1816156;1816784;1817016;1817018;1817692;1817816;1818320;1819408;1819410;1819678;1820374;1820740;1821010;1821092;1822674;1822926;1823362;1823450;1823548;1824282;1825080;1825156;1825384;1826710;1829082;1829492;1829494;1830504;1830864;1832136;1832584;1832586;1833150;1833328;1833330;1833544;1835276;1835542;1837578;1837674;1838222;1838330;1838388;1839224;1839226;1839322;1839424;1840090;1840218;1840284;1840906;1841110;1841282;1841284;1842000;1842064;1842532;1843418;1843848;1844252;1844406;1844474;1844882;1845794;1846504;1848940;1852531;1858646;1897488;1897490;1897492;1897494;1897496;1897498;1897500;1897502;1897504;1897506;1897508;1897510;1897512;1897514;1897516;1897518;1897520;1897522;1897524;1897526;1897528;1897530;1897532;1897534;1897536;1897538;1897540;1897542;1897544;1897546;1897548;1897550;1897552;1897554;1897556;1897558;1897560;1897562;1897564;1897566;1897568;1897570;1897572;1897574;1897576;1897578;1897580;1897582;1897584;1897586;1897588;1897590;1897592;1897594;1897596;1897598;1897600;1897602;1897604;1897606;1897608;1897610;1897612;1897614;1897616;1897618;1897620;1897622;1897624;1897626;1897628;1897630;1897632;1897634;1897636;1897638;1897640;1897642;1897644;1897646;1897648;1897650;1897652;1897654;1897656;1897658;1897660;1897662;1897664;1897666;1897668;1897670;1897672;1897674;1897676;1897678;1897680;1897682;1897684;1897686;1897688;1897690;1897692;1897694;1897696;1897698;1897700;1897702;1897704;1897706;1897708;1897710;1897712;1897714;1897716;1897718;1897720;1897722;1897724;1897726;1897728;1897730;1897732;1897734;1897736;1897738;1897740;1897742;1897744;1897746;1897748;1897750;1897752;1897754;1897756;1897758;1897760;1897762;1897764;1897766;1897768;1897770;1897772;1897774;1897776;1897778;1897780;1897782;1897784;1897786;1897788;1897790;1897792;1897794;1897796;1897798;1897800;1897802;1897804;1897806;1897808;1897810;1897812;1897814;1897816;1897818;1897820;1897822;1897824;1897826;1897828;1897830;1897832;1897834;1897836;1897838;1897840;1897842;1897844;1897846;1897848;1897850;1897852;1897854;1897856;1897858;1897860;1897862;1897864;1897866;1897868;1897870;1897872;1897874;1897876;1897878;1897880;1897882;1897884;1897886;1897888;1897890;1897892;1897894;1897896;1897898;1897900;1897902;1897904;1897906;1897908;1897910;1897912;1897914;1897916;1897918;1897920;1897922;1897924;1897926;1897928;1897930;1897932;1897934;1897936;1897938;1897940;1897942;1897944;1897946;1897948;1897950;1897952;1897954;1897956;1897958;1897960;1897962;1897964;1897966;1897968;1897970;1897972;1897974;1897976;1897978;1897980;1897982;1897984;1897986;1897988;1897990;1897992;1897994;1897996;1897998;1898000;1898002;1898004;1898006;1898008;1898010;1898012;1898014;1898016;1898018;1898020;1898022;1898024;1898026;1898028;1898030;1898032;1898034;1898036;1898038;1898040;1898042;1898044;1898046;1898048;1898050;1898052;1898054;1898056;1898058;1898060;1898062;1898064;1898066;1898068;1898070;1898072;1898074;1898076;1898078;1898080;1898082;1898084;1898086;1898088;1898090;1898092;1898094;1898096;1898098;1898100;1898102;1898104;1898106;1898108;1898110;1898112;1898114;1898116;1898118;1898120;1898122;1898124;1898126;1898128;1898130;1898132;1898134;1898136;1898138;1898140;1898142;1898144;1898146;1898148;1898150;1898152;1898154;1898156;1898158;1898160;1898162;1898164;1898166;1898168;1898170;1898172;1898174;1898176;1898178;1898180;1898182;1898184;1898186;1898188;1898190;1898192;1898194;1898196;1898198;1898200;1898202;1898204;1898206;1898208;1898210;1898212;1898214;1898216;1898218;1898220;1898222;1898224;1898226;1898228;1898230;1898232;1898234;1898236;1898238;1898240;1898242;1898244;1898246;1898248;1898250;1898252;1898254;1898256;1898258;1898260;1898262;1898264;1898266;1898268;1898270;1898272;1898274;1898276;1898278;1898280;1898282;1898284;1898286;1898288;1898290;1898292;1898294;1898296;1898298;1898300;1898302;1898304;1898306;1898308;1898310;1898312;1898314;1898316;1898318;1898320;1898322;1898324;1898326;1898328;1898330;1898332;1898334;1898336;1898338;1898340;1898342;1898344;1898346;1898348;1898350;1898352;1898354;1898356;1898358;1898360;1898362;1898364;1898366;1898368;1898370;1898372;1898374;1898376;1898378;1898380;1898382;1898384;1898386;1898388;1898390;1898392;1898394;1898396;1898398;1898400;1898402;1898404;1898406;1898408;1898410;1898412;1898414;1898416;1898418;1898420;1898422;1898424;1898426;1898428;1898430;1898432;1898434;1898436;1898438;1898440;1898442;1898444;1898446;1898448;1898450;1898452;1898454;1898456;1898458;1898460;1898462;1898464;1898466;1898468;1898470;1898472;1898474;1898476;1898478;1898480;1898482;1898484;1898486;1898488;1898490;1898492;1898494;1898496;1898498;1898500;1898502;1898504;1898506;1898508;1898510;1898512;1898514;1898516;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N19985;REN19986;REN19987;REN19988;REN19989;REN19990;REN19991;REN19992;REN19993;REN19994;REN19995;REN19996;REN19997;REN19998;REN19999;REN20000;REN20001;REN20002;REN20003;REN20004;REN20005;REN20006;REN20007;REN20008;REN20009;REN20010;REN20011;REN20012;REN20013;REN20014;REN20015;REN20016;REN20017;REN20018;REN20019;REN20020;REN20021;REN20022;REN20023;REN20024;REN20025;REN20026;REN20027;REN20028;REN20029;REN20030;REN20031;REN20032;REN20033;REN20034;REN20035;REN20036;REN20037;REN20038;REN20039;REN20040;REN20041;REN20042;REN20043;REN20044;REN20045;REN20046;REN20047;REN20048;REN20049;REN20050;REN20051;REN20052;REN20053;REN20054;REN20055;REN20056;REN20057;REN20058;REN20059;REN20060;REN20061;REN20062;REN20063;REN20064;REN20065;REN20066;REN20067;REN20068;REN20069;REN20070;REN20071;REN20072;REN20073;REN20074;REN20075;REN20076;REN20077;REN20078;REN20079;REN20080;REN20081;REN20082;REN20083;REN20084;REN20085;REN20086;REN20087;REN20088;REN20089;REN20090;REN20091;REN20092;REN20093;REN20094;RH104422;RH65270;RH66958;RH78619;SHGC-30753;SHGC-51888;SHGC-87637;SHGC-87640;STS-R31946;WI-21887;stSG622591;stSG622592;stSG622593;stSG622594;stSG622595;stSG622596;stSG622597;stSG622598;stSG622599;stSG622600;stSG622601;stSG622602;stSG622603;stSG622604;stSG622605;stSG622606;stSG622607;stSG622608;stSG622609;stSG622610;stSG622611;stSG622612;stSG622613;stSG622614;stSG622615;stSG622616;stSG622617;stSG622618;stSG622619;stSG622620;stSG622621;stSG622622;stSG622623;stSG622624;stSG622625;stSG622626;stSG622627;stSG622628;stSG622629;stSG622630;stSG622631;stSG622632;stSG622633;stSG622634;stSG622635;stSG622636;stSG622637;stSG622638;stSG622639;stSG622640;stSG622641;stSG622642;stSG622643;stSG622644;stSG622645;stSG622646;stSG622647;stSG622648;stSG622649;stSG622650;stSG622651;stSG622652;stSG622653;stSG622654;stSG622655;stSG622656;stSG622657;stSG622658;stSG622659;stSG622660;stSG622661;stSG622662;stSG622663;stSG622664;stSG622665;stSG622666;stSG622667;stSG622668;stSG622669;stSG622670;stSG622671;stSG622672;stSG622673;stSG622674;stSG622675;stSG622676;stSG622677;stSG622678;stSG622679;stSG622680;stSG622681;stSG622682;stSG622683;stSG622684;stSG622685;stSG622686;stSG622687;stSG622688;stSG622689;stSG622690;stSG622691;stSG622692 C21orf107;FLJ43918;N143;WDR9 OTTHUMP00000068796;OTTHUMP00000068797;OTTHUMP00000068928;OTTHUMP00000207967;WD repeat protein WDR9-form2;WD repeat-containing protein 9;bromodomain and WD repeat-containing protein 1;cAMP response element binding and beta-tranducin family-like;transcriptional unit N143 APPROVED protein-coding ENSG00000185658 12760 11683 REVIEWED 1317732 BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011] 11 11 q13 62214323 62231395 - 62457734 62477091 - 1600600;1600602;1600601;1580863;6480464;7240710 12584444;13680364;11479539 14981520;19252810;18698612;18612770;18585921;18458148;18250201;18224579;18155601;18093937;17535271;17486577;17420921;17387721;16435205;16427281;16344560;16341674;15732094;15489334;15342556;15181077;15126564;14702039;14602785;12477932;11389484;9110174;17663003;8619474;8125298;16189514;19438831;20598714;20806400;19226263;19278620;19323790;19396477;19574402;19762912;23088713;22234369;18690553;21750110;23142943;21906983;21957196;22474068;20301391;20301420;20301484;22505724;23470542 26580 E9PIU3;E9PJK0;E9PJS9;E9PPN5;E9PR78;E9PRU2;E9PSB5;F8W7Q8;F8WER0;H0YF20;H7BXM1;H7BYY0;H7C2D5;J3KQ12;Q96G97 ABBA01003238;ABBA01003239;ABBA01003240;AF052149;AK027524;AK075317;AK223606;AK225029;AK315423;AMYH01003690;AP001458;BC004911;BC009866;BC012140;BC041640;BC093048;BG699373;BM763152;BP370169;CD107822;CH471076;CQ783924;CS072299;DB178846;DB296305;NG_008461;NM_001122955;NM_001130702;NM_032667;NR_037948;NR_037949 AAH04911;AAH12140;AAH41640;AAH93048;ABM84409;ABW03570;BAB55175;BAC11543;BAD97326;CAF86927;CAI93437;EAW74070;EAW74072;EAW74073;EAW74074;EAW74075;EAW74078;EAW74080;EAW74081;NP_001116427;NP_001124174;NP_116056;Q96G97 Hs.533709 1298330;1335673;1739963;2127309;2139350;2167540;2178463;5106097;7187871 D11S1084;D11S1765;D11S4063;D11S4928;D11S987;Gng3;RH12527;RH12537 FLJ16651;GNG3LG;HMN5;MGC4694;SPG17 Bernardinelli-Seip congenital lipodystrophy 2 (seipin);OTTHUMP00000198002;OTTHUMP00000198004;OTTHUMP00000198005;OTTHUMP00000198006;OTTHUMP00000198007;OTTHUMP00000198008;OTTHUMP00000198009;OTTHUMP00000198013;bernardinelli-Seip congenital lipodystrophy type 2 protein;seipin APPROVED protein-coding ENSG00000168000 15832 05858 269700;270685;600794;606158 REVIEWED 735544 BSN bassoon presynaptic cytomatrix protein Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008] 3 3 p21.31 49566926 49683986 + 49591922 49708982 + 1580863;6480464 12477932;10329005;9806829;19422935;19367581;19165527;17554300;12628169;9679147;9455477;14734538;17554261;19567891;19657358;19812333;19915572;20024904;20307617;21092860;21092861;21102463;20846217;16751776;21297633;21700703;18029348;21906983;17620599;23128233 8927 Q9UPA5 AB007894;ABBA01024577;ABBA01024578;ABBA01024579;ABBA01024580;ABBA01024581;AC099668;AC104452;AF052224;AMYH01013160;AMYH01013161;AMYH01013162;AW131629;CH471055;NG_015892;NM_003458;Y18448;Y18449;Y18450;Y18451;Y18452 AAC83555;BAA23707;CAA77176;EAW64992;EAW64993;NP_003449;Q9UPA5 Hs.194684 1341798;2123049;2127855 D3S2456;D3S3133;G35047 ZNF231 OTTHUMP00000165198;bassoon (presynaptic cytomatrix protein);neuronal double zinc finger protein;protein bassoon;zinc finger protein 231 APPROVED protein-coding ENSG00000164061 1117 04933 604020 REVIEWED 1626189 BSX brain-specific homeobox 11 11 11 q24.1 120007843 120011864 - 122353567 122357589 - 122848357 122852379 - 6480464 17353277;14678827;18029348;18855024;21102462 390259 Q3C1V8 AB231738;ABBA01031278;AMYH01004097;AP003040;NM_001098169 BAE46889;NP_001091639;Q3C1V8 Hs.449687 BSX1 OTTHUMP00000196762;brain specific homeobox;brain-specific homeobox protein homolog protein-coding ENSG00000188909 20450 611074 VALIDATED 1346772 BSND Bartter syndrome, infantile, with sensorineural deafness (Barttin) This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008] 1 1 p32.1 55237205 55247053 + 55464617 55474465 + 1600603;1580863;6480464;7240710 11687798 18843510;18776122;18094726;17954364;17652939;17510212;16849430;16773427;16572343;15496163;15489334;12761627;12574213;12477932;12111250;11734858;19913121;20628086;19096086;19646679;21269598;21832049;21541222 7809 Q5VU50;Q8WZ55 ABBA01074702;ABBA01074703;ABBA01074704;AK129999;AL589790;AL590440;AMYH01000641;AY034632;BC069510;BC103898;BC103899;BC103900;CH471059;NG_008965;NM_057176 AAI03899;AAI03900;AAI03901;AAK57750;EAX06661;NP_476517;Q8WZ55 Hs.151291 1336013;1722873;1792534;2107899 BSND_8762;D1S2652;G60531;PMC153210P1 BART;DFNB73;MGC119283;MGC119284;MGC119285 OTTHUMP00000009804;barttin;deafness, autosomal recessive 73 APPROVED protein-coding 16512 05914 602522;606412 REVIEWED 10249 BSG basigin (Ok blood group) The protein encoded by this gene is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. The encoded protein is also a member of the immunoglobulin superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 p13.3 522325 534493 + 571277 583493 + 734663;734662;1580863;2289051;2289053;2289063;2289052;2289054;2289055;2289059;2296028;2296029;6480464;6484113 9559645;9245724;17671123;16633062;16029217;17021824;16627983;16004819;9154157;18223224;17342307 14985463;21146836;7821789;17353931;9767135;14707126;15946952;10880960;19438743;19427027;19337990;19298604;19223118;19176383;19093255;19019167;19015455;18997004;18852494;18847500;18816083;18778892;18762818;18751374;18695939;18689982;18689500;18688595;18665467;18664479;18608214;18567995;18554952;18508606;18456655;18434307;18431027;18430721;18273614;18256385;18160808;18160397;18048771;18035727;17996943;17965264;17962725;17725804;17589939;17579119;17460779;17444954;17441962;17267690;17209789;17145878;17127621;17088917;17081983;17081065;17050542;16911716;16824781;16778084;16771728;16721788;16507143;16461815;16443928;16425263;16396496;16339461;16310185;16207318;16189514;15904490;15890777;15833850;15831673;15823273;15770719;15711733;15671024;15632013;15489334;15340161;15201341;15181074;15161697;15057824;11943775;19548138;14749763;14729463;14702039;14671212;12975309;12939332;12925876;12902469;12898514;12792908;12754519;12692261;12553375;12526080;12477932;12174874;12173047;12117738;11992541;11688976;10921872;10706100;9360995;9130641;8752667;8404035;7812975;2032306;1846736;1783610;1634773;19019082;21441138;19921476;16712791;20369477;21536654;20514014;21039753;19995409;20381119;12558975;15901826;15917240;16080871;17540176;17593815;17706116;18774544;19048397;19176030;19350111;19372030;19473445;19500591;19541433;19580345;19582878;19597352;19615356;19615732;19639092;19751784;19758589;19768682;19775453;19779140;19885565;19956835;20047591;20060267;20082877;20083879;20147391;20199151;20236683;20406987;7273846;21083710;19950699;20483678;20824203;17633444;20658178;20345978;20558462;20810913;20021816;20451562;19913121;20384626;20451353;20454640;20628086;20631064;20646600;20525232;19863615;20213083;21228176;21119439;21165561;21245143;20082657;20563831;19734590;20514493;20021962;20021964;20969816;23012390;22490855;22626996;22906282;23135911;23393905;22460757;20455995;21211394;21470566;21355964;21687950;16344560;21967109;22366034;16196087;21320284;21343160;21641389;21613799;22800476;23005037;22592183;23687119;20629990;21620857;21745000;18781797;20473759;21726808;21942715;21956400;21987572;22080952;21660043;22198615;20360068;21532623;21665938;21870331;21937704;21563192;21655935;21924036;21994090;21694447;21789540;22280229;23474495;22575025;22320715;22670315;21554254;21787388;21809360;22130661;22200845;22200897;22215147;21464540;21918972;22298186;22389410;22427101;22659167;20509007;21328337;21693764;21890473;21906983;22129926;22374422;22417846;21145461;22555451;23258846;23455922;23463506;23221648;21963094;22304920;22595757;23097496;23383273;19214198;22053931;22505724;22844419;23577575;23178078;22883094;22870202;22640183;23263825;23292863 682 I3L192;P35613;Q54A51;R4GMX5;R4GN83 AB072923;AB085790;AB091680;ABBA01002575;AC005559;AC009005;AF042854;AF548371;AK095912;AK296858;AK297880;AK302231;AMYH01009191;AY358113;AY942196;BC009040;BG480530;BI464857;BU501595;CB153773;CH471242;D28441;D45131;DA007913;GU557064;GU557065;L10240;L20471;M87879;NG_007468;NM_001728;NM_198589;NM_198590;NM_198591;X64364 AAA68936;AAA91084;AAB41120;AAC33279;AAD10704;AAH09040;AAN40694;AAQ88480;AAX20110;ADD31881;ADD31882;ADZ15997;BAA05807;BAA08109;BAB88938;BAC67168;BAC76828;BAG59422;BAG60203;BAG63585;CAA45716;EAW61180;EAW61181;EAW61182;EAW61183;EAW61184;EAW61185;EAW61186;EAW61187;NP_001719;NP_940991;NP_940992;NP_940993;P35613 Hs.501293 1682025;5111635 RH79940;RH80808 5F7;CD147;EMMPRIN;M6;OK;TCSF CD147 antigen;OK blood group antigen;basigin;collagenase stimulatory factor;extracellular matrix metalloproteinase inducer;leukocyte activation antigen M6;tumor cell-derived collagenase stimulatory factor APPROVED protein-coding ENSG00000172270 1116 00176 109480;111380 REVIEWED 1347567 BSPRY B-box and SPRY domain containing 9 9 9 q32 86759422 86781124 + 115151633 115173334 + 116111812 116133513 + 6480464 15489334;15164053;14702039;12615066;12477932;11099500;10978534;19929093;18029348 54836 Q5W0U4 ABBA01042687;ABBA01042688;AJ276691;AK000157;AK092607;AL137066;AMYH01021669;BC001477;BX462607;CH471090;EL954585;NM_017688;W44700 AAH01477;BAA90980;BAG52581;CAC09324;EAW87374;NP_060158;Q5W0U4 Hs.614517 1337499;1648971;1649771 D7S647;RH35922;SHGC-34969 FLJ20150 B box and SPRY domain-containing protein;B-box and SPRY-domain containing protein;OTTHUMP00000022728;zetin 1 protein-coding ENSG00000119411 18232 16566 VALIDATED 1342632 BST1 bone marrow stromal cell antigen 1 Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008] 4 4 p15 15313739 15342893 + 15704573 15733796 + 1580863;6480464;6907045 8202488;19052657;18211745;16344560;16335952;15815621;15489334;15328157;12477932;12415565;11866528;11602246;11439087;10599889;9030974;8941363;8889548;8645283;8630113;20639476;19915576;20711177;21044948;21084426;20697102;22916288;21292315;21248740;21478153;22490479;22451204;21988832;23026536 683 A6NC48;H0Y8G4;H0Y984;H0Y9Q9;Q10588 AB175627;ABBA01032572;AC114744;AK312497;AMYH01014021;BC012095;BT019502;BU732655;CH471069;D21878;DA382561;NM_004334 AAH12095;AAV38309;AAY40930;BAA04885;BAE92566;BAG35399;EAW92744;NP_004325;Q10588 Hs.720344 1852460;2178676;2178678;2217080;5125864 BST1_2659;RH17388;RH36393;SHGC-35585;SHGC-50363 CD157 ADP-ribosyl cyclase 2;BST-1;NAD(+) nucleosidase;OTTHUMP00000123364;OTTHUMP00000123365;OTTHUMP00000217617;bone marrow stromal antigen 1;cADPr hydrolase 2;cyclic ADP-ribose hydrolase 2 APPROVED protein-coding ENSG00000109743 1118 02665 600387 VALIDATED 1346555 BST2 bone marrow stromal cell antigen 2 Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008] 19 19 p13.1 17374755 17377384 - 17513755 17516384 - 1580863;6480464 19032371;18200009;12761501;7607676;19564354;19474106;19461879;19359243;19338666;19286137;19273615;19091864;22383521;16602701;16157322;15489334;12477932;10329429;8522202;8125298;21310048;22999946;22493439;21940748;20485522;18029348;19436700;19478868;19490609;19515779;19605472;19737401;19740980;19742323;19837671;19879838;20015985;20019814;20078884;20140192;20147389;20147395;20221443;20237496;20329562;20980512;21068238;20861257;20861258;20444895;20444900;20529266;20399176;20585562;20702620;20850859;20708210;20880831;20940320;20686043;20126395;19864625;20628624;20636339;21094940;21237475;21757214;21184674;21191020;21209114;20179761;21084286;20858517;21304933;21963094;21988832;23260108;21529378;21621240;21849457;22072710;22264038;21610122;21504576;21674066;21874899;21625568;21937450;21808013;22520941;21955466;21994744;21902775;22301143;21222046;22130541;22222210;22090135;22315404;22398279;22072961;21796732;19036818;22667354;23411007;23047007;23152502;23028328;23223624;23303646;23582304;23159053;23240078;23311681;23401591;23408603;23468424;18200012;18342597;18468560;18541215;18653459;18789977;19149577;19149995;19196977;19214216;19244337;19286130;19305418;19501037;19694548;19730691;19879831;19917491;19917496;19929170;20012522;20147723;20167081;20201792;20386718;20419159;20434978;20571604;20638642;20688520;20798829;20920359;20926557;21176220;21238941;21238946;21490095;21601230;21607084;21645334;21687426;21741003;21775449;21775465;21813615;21900423;21918813;21922073;21994665;21994772;22072966;22103835;22110710;22171785;22180752;22194693;22286874;22291694;22357275;22405001;22421880;22479182;22479480;22509177;22524175;22524176;22524177;22524178;22524179;22524180;22524181;22530020;22533470;22553496;22647704;22811908;22855686;22952667;22980332;23077864;23148293;23221546 684 Q10589 ABBA01051198;AC010319;AK223124;AK291099;AK303593;AMYH01009573;AY320402;BC033873;CH471106;D28137;NM_004335 AAH33873;AAP73804;BAA05679;BAD96844;BAF83788;BAG64608;EAW84602;EAW84603;NP_004326;Q10589 Hs.118110 1685249;1698158;1852237;2131548;2163175;2168109 RH102614;RH78341;RH80754;SHGC-35522;STS-R65788;STS-T47132 CD317;TETHERIN BST-2;HM1.24 antigen;NPC-A-7;OTTHUMP00000231653;bone marrow stromal antigen 2;tetherin APPROVED protein-coding ENSG00000130303 1119 02759 600534 REVIEWED 1352187 BTAF1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011] 10 10 q22-q23 93673716 93780062 + 93683736 93790082 + 1580863;6480464 9342322;9488487;18025106;16531235;15509807;15302935;14988402;12646231;12477932;10642510;9054383;8849451;8764062;8764009;8680883;8121496;7933101;7836461;7835343;9159119;19505873;19454010;20627952;16385451;20379614;22939629;21252943;19471022;21139048;21890473;19322201 9044 B4E0W6;O14981;Q2M1V9;Q8N6J1 AB208843;ABBA01021919;ABBA01021920;ABBA01021921;AF038362;AF166116;AF166118;AJ001017;AK303554;AK308399;AL359198;AL365398;AMYH01002944;AMYH01002945;BC029930;BC030273;BC047009;BC112201;CH471066;CQ834836;NM_003972 AAC04573;AAF37802;AAF37803;AAH29930;AAH30273;AAH47009;AAI12202;BAD92080;BAG64578;CAA04475;CAH05633;EAW50102;EAW50103;NP_003963;O14981 Hs.500526 2217082 BTAF1_3495 KIAA0940;MGC138406;MOT1;TAF(II)170;TAF172;TAFII170 ATP-dependent helicase BTAF1;B-TFIID transcription factor-associated 170 kDa subunit;OTTHUMP00000020093;TATA-binding protein-associated factor 172;TBP-associated factor 172 APPROVED protein-coding ENSG00000095564 17307 05546 605191 VALIDATED 2301265 BTBD17 BTB (POZ) domain containing 17 17 17 17 q25.1 68945277 68950680 - 69864150 69869553 - 72352555 72357958 - 6480464 16625196 388419 A6NE02 ABBA01028841;AC103809;AMYH01008623;CH471099;NM_001080466 A6NE02;AAI68374;EAW89155;NP_001073935 Hs.211870 BTBD17A;LGALS3BPL;TANGO10A BTB/POZ and BACK domain-containing protein LOC388419;BTB/POZ domain-containing protein 17;galectin-3-binding protein-like;transport and golgi organization 10 homolog A protein-coding ENSG00000204347 33758 PROVISIONAL 3031244 BTBD19 BTB (POZ) domain containing 19 1 1 1 p34.1 43557034 43562677 + 45046741 45052388 + 45274154 45279801 + 6480464 14702039 149478 C9JJ37 ABBA01050907;AK056150;AK304611;AL592166;AMYH01000568;NM_001136537 BAG65396;C9JJ37;NP_001130009 Hs.743557 1743409;1780204;2161173;5015619;5015861;5037552;7185938 AL009769;D10S16;D11S3114;D8S2279;GDB:316029;SHGC-154623 RP11-269F19.7 BTB/POZ domain-containing protein 19;OTTHUMP00000203846;novel BTB domain containing protein protein-coding ENSG00000222009 27145 PROVISIONAL 1322160 BTBD1 BTB (POZ) domain containing 1 The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 15 15 15 q24 60850514 60901468 + 81476179 81527110 - 83685175 83736106 - 1580863;6480464 11179693;11256614;16381901;15489336;15489334;15486563;14702039;12878161;12477932;11818025;11230166;11076863;10737800;8125298;17543862;18247557;21145461;20531441;21092135;18305892;19615732;17549794;21326860;21890473;21906983;21963094;19295130;22505724 53339 H0YL89;Q9H0C5 ABBA01029433;ABBA01029434;AC022558;AC024270;AF257241;AF355402;AF529369;AK000731;AK225355;AK225362;AK294410;AK298534;AL136853;AMYH01006858;AY364253;BC017464;BC028097;BF095127;BI553790;CH471188;NM_001011885;NM_025238 AAH28097;AAK17068;AAK25825;AAQ09603;AAQ76812;ABM82384;ABM85561;BAA91345;BAH11757;BAH12808;CAB66787;CAL38638;EAW62429;EAW62430;NP_001011885;NP_079514;Q9H0C5 Hs.459149 1339899;1650262;1653639;1665933;1670701;1710720;1730103;1736512;1760599;2165676;2166586;2183516;7185569 D15S133E;D15S200;D15S623E;D15S719E;G09681;SHGC-144150;SHGC-63476;SHGC-63477;SHGC-83690;STS-R67078;STS-T59353;WI-13449 C15orf1;NS5ATP8 BTB domain containing 1;BTB/POZ domain-containing protein 1;HCV NS5A-transactivated protein 8;OTTHUMP00000190872;hepatitis C virus NS5A-transactivated protein 8 APPROVED protein-coding ENSG00000064726 1120 12251 608530 REVIEWED 2923345 BTBD18 BTB (POZ) domain containing 18 11 11 11 q12.1 54867702 54875969 - 57268182 57275829 - 57510986 57519253 - 6480464 11181995;12477932 643376 B2RXH4;E9PRF5 ABBA01021477;AI699344;AMYH01003654;AP001931;BC157853;BC157854;CH471076;DC346943;NM_001145101 AAI57854;AAI57855;B2RXH4;EAW73783;NP_001138573 Hs.606355 1782232 SHGC-100291 BTB/POZ domain-containing protein 18;OTTHUMP00000235477;hCG1730474 protein-coding ENSG00000233436 37214 VALIDATED 1318539 BTBD11 BTB (POZ) domain containing 11 12 12 12 q23.3 107377745 107718969 + 106236327 106577549 + 107712197 108053419 + 6480464 14702039;12477932;20379614;19913121;20628086;19734545 121551 B3KVD0;B3KXB0;C9JV03;H0YHR1;Q6ZV99 ABBA01053152;ABBA01053153;ABBA01053154;ABBA01053155;ABBA01053156;ABBA01053157;ABBA01053158;ABBA01053159;ABBA01053160;AC007540;AC007649;AC009774;AI638039;AK091276;AK094304;AK122818;AK124835;AK127012;AK127295;AK128445;AMYH01004726;AY373588;BC027931;BC093627;BC093629;BC101561;BC101563;BC146824;CH471054;NM_001017523;NM_001018072 A6QL63;AAH93627;AAH93629;AAI01562;AAI01564;AAI46825;AAR21078;BAC03626;BAC85963;BAG53742;BAG54422;BAG54475;BAG54675;EAW97799;EAW97800;EAW97801;NP_001017523;NP_001018082 Hs.271272 1337585;1671402;1712386;1712390;1712396;1712400;1722743;1734048;1763323;1772124;2121140;2148191;2153327;5014051;5024039;5037552 D11S3993;D12S1109;D12S1110;D12S1126;D12S1865;D12S353;D16S325;D8S2278;D8S2279;G54219;G54221;G54225;G54227;G60310;SHGC-147049;STS-W15573 FLJ33957;FLJ42845 ANK-repeat BTB domain containing protein;BTB/POZ domain-containing protein 11;OTTHUMP00000197304;OTTHUMP00000197305;OTTHUMP00000197306;OTTHUMP00000242590;ankyrin repeat and BTB/POZ domain-containing protein BTBD11 protein-coding ENSG00000151136 23844 12536 VALIDATED 7204475 BTBD7P1 BTB (POZ) domain containing 7 pseudogene 1 10 p13 13198681 13200136 - 441548 ABBA01034632;AL355355;AMYH01002041;AMYH01002042;NG_022140 pseudo 44875 INFERRED 7204476 BTBD7P2 BTB (POZ) domain containing 7 pseudogene 2 10 113082536 113083160 + 100420392 ABBA01063014;ABBA01063015;AC021035;AMYH01003067;NG_025540 pseudo 44876 INFERRED 1322924 BTBD16 BTB (POZ) domain containing 16 10 10 10 q26.13 117763200 117830044 + 124020811 124087666 + 124030821 124097676 + 6480464 18519826;15489334;15164054;14702039;12477932;16385451;19488044;20379614;22990118 118663 Q32M84 AA926746;ABBA01062846;AK058088;AL135793;AMYH01003135;BC109261;BC109262;BX842243;CH471066;NM_144587 AAI09262;AAI09263;BAB71658;EAW49320;EAW49321;NP_653188;Q32M84 Hs.422466 C10orf87;FLJ25359;MGC129864;MGC129865 BTB/POZ domain-containing protein 16;OTTHUMP00000020649;chromosome 10 open reading frame 87 protein-coding ENSG00000138152 26340 12594 VALIDATED 1323177 BTBD3 BTB (POZ) domain containing 3 20 20 20 p12.2 11941645 11977412 + 11819477 11855243 + 11871477 11907243 + 1580863;6480464 14702039;12477932;12421765;11780052;10231032;20463552;21348951;21987572;21890473;21963094;19322201;21720722;23000965;23251661 22903 B0QYQ9;B0QYR0;B0QYR1;F8WAQ4;Q9Y2F9 AB023169;ABBA01053947;AK024349;AK296364;AK299281;AK300371;AK307472;AK316256;AL035448;AL137756;AMYH01011715;AMYH01011716;BC093677;BC101527;BC109315;BC109316;CB961606;CH471133;NM_014962;NM_181443 AAH93677;AAI01528;AAI09316;AAI09317;BAA76796;BAG59039;BAG61298;BAG62107;BAH14627;CAB70908;EAX10327;EAX10328;NP_055777;NP_852108;Q9Y2F9 Hs.709366 1849983;2109095;2122459;2147151;2161831;2168743 A002V06;BTBD3__4280;D20S597E;RH46091;SGC38379;SHGC-31930 KIAA0952;MGC130038;MGC130039;dJ742J24.1 BTB/POZ domain-containing protein 3;OTTHUMP00000030288;OTTHUMP00000030289;OTTHUMP00000197601;OTTHUMP00000197603;OTTHUMP00000197605;OTTHUMP00000197606 protein-coding ENSG00000132640 15854 12538 VALIDATED 1601947 BTBD10 BTB (POZ) domain containing 10 11 11 11 p15.2 13535739 13611028 - 13366131 13441414 - 13409555 13484838 - 6480464 18160256;16344560;15556295;15489334;21145461;21267538;14702039;12477932;16169070;20379614;22388351;23080069;18029348;21139048;21906983;21963094;22321011;21900206 84280 B7Z228;B7Z503;D3DQW7;E9PKM7;E9PKU9;E9PN21;E9PPD8;Q6P5W1;Q9BSF8 ABBA01061123;ABBA01061124;ABBA01061125;AC016884;AC021269;AF329102;AK095946;AK292392;AK294259;AK294768;AK298226;AK310935;AK316163;AL832981;AMYH01003399;AY221959;BC005071;BC017072;BC062633;CH471064;DB030132;NM_032320 AAH05071;AAH17072;AAH62633;AAL69061;AAO64360;ACE86711;ACE87396;BAF85081;BAH11714;BAH11877;BAH12739;BAH14534;CAH56329;EAW68497;EAW68498;EAW68499;EAW68500;EAW68501;EAW68502;NP_115696;Q9BSF8 Hs.332382 1340715;1644947;1652650;1652652;1744311;1797148;7184463 A005L39;D11S926;G20319;GDB:451631;HSC0WD062;MGC13007 GMRP-1;GMRP1;MGC13007 BTB (broad-complex tramtrack and bric-a-brac/pox virus and zinc finger) domain-containing protein 10;BTB/POZ domain-containing protein 10;K+ channel tetramerization protein;OTTHUMP00000230967;OTTHUMP00000230969;OTTHUMP00000230970 protein-coding ENSG00000148925 21445 17045 VALIDATED 5135100 BTBD9-AS1 BTBD9 antisense RNA 1 6 38449372 38450303 + 100505567 XR_108642;XR_133425 APPROVED miscrna 40959 1344972 BTBD2 BTB (POZ) domain containing 2 The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 1919445 1949684 - 1936447 1966702 - 1985447 2015702 - 1580863;6480464 16169070;18305892;15761153;15489334;15231748;15057824;14702039;12878161;12782588;12477932;11818025;11179693;9110174;8619474;8125298;17543862;21145461;20610542;21092135;19615732;20368557;18775313;21139048;21890473;21900206;21906983;19295130 55643 K7EMW9;K7ENV9;Q9NX81 ABBA01002699;ABBA01002700;AC004678;AC005306;AF355797;AK000393;AK027481;AK056818;AK225831;AL360275;AMYH01009272;AY007116;BC000564;BC008035;BC053986;BC069199;BC094820;BU849231;CH471139;CR457230;NM_017797 AAC16070;AAC26984;AAG45443;AAH00564;AAH08035;AAH53986;AAH69199;AAH94820;AAI52719;AAI56975;AAK25826;BAA91136;BAB55143;CAB96527;CAG33511;EAW69424;EAW69425;NP_060267;Q9BX70 Hs.465543 1686094;1686592 RH93415;RH93682 BTB/POZ domain-containing protein 2 APPROVED protein-coding ENSG00000133243 15504 12252 608531 REVIEWED 1345329 BTBD7 BTB (POZ) domain containing 7 14 14 14 q32.12 73757920 73853399 - 92773649 92869138 - 93703896 93799385 - 6480464 15489334;14702039;12477932;11527404;10819331;21145461;21906983 55727 E7ERI4;G3V2J4;G3V3T2;H0YJ41;H3BLV3;Q9P203 AB040958;ABBA01030432;ABBA01030433;ABBA01030434;AI452701;AK001510;AK021953;AK074354;AK091287;AK291422;AK303355;AL049394;AL122023;AL132838;AMYH01005965;BC047071;BC141850;BX248762;BX538231;CH471061;NM_001002860;NM_018167 AAH47071;AAI41851;AAI67795;BAA91730;BAA96049;BAB13946;BAF84111;BAG64416;CAD66569;CAD98074;CAH10736;EAW81525;EAW81526;EAW81527;EAW81528;EAW81529;NP_001002860;NP_060637;Q9P203 Hs.525549 1338362;1660252;1667847;1754733;1851482;1855420;2128070;2147949;2156192;2170633;2172077;2191239;5015404;5016478;5021396;7187892 D14S574;D14S81;G35930;GDB:313783;GDB:434012;L17705;MARC_16723-16724:1018027059:1;RH11308;RH44522;RH44561;RH48317;RH69546;SHGC-133097;SHGC-36758;WI-20863 DKFZp686N0544;FUP1;MGC48310 BTB/POZ domain-containing protein 7;OTTHUMP00000245685;OTTHUMP00000245686;OTTHUMP00000245687;OTTHUMP00000245688 protein-coding ENSG00000011114 18269 12541 610386 VALIDATED 1352605 BTBD6 BTB (POZ) domain containing 6 14 14 14 q32 85764120 85766668 + 104786053 104788474 + 105714879 105717430 + 1580863;6480464 15489334;12477932;12107413;8889548;20080956;16751776;22990118;21988832;21573799 90135 F8VPC8;Q96KE9 ABBA01008868;ABBA01008869;AF086420;AF173358;AF353674;AL512355;AMYH01006078;BC006414;BC042525;BU730253;CH471061;DB456488;NG_029489;NM_033271 AAF36536;AAH06414;AAH42525;AAK39520;EAW81913;EAW81914;NP_150374;Q96KE9 Hs.7367 1712274;2173980 G54046;SGC31908 BDPL BTB domain protein BDPL;BTB/POZ domain-containing protein 6;OTTHUMP00000163908;OTTHUMP00000212815;OTTHUMP00000243800;glucocorticoid receptor AF-1 coactivator-1;lens BTB domain protein protein-coding ENSG00000184887 19897 12540 VALIDATED 1347221 BTBD8 BTB (POZ) domain containing 8 1 1 1 p22.1 90792299 90859815 + 92318481 92385985 + 92545862 92613397 + 6480464 15489334;14654994;12477932;21145461;18029348;20562859;23251661 284697 B4DKD6;Q5XKL5 ABBA01045552;ABBA01045553;ABBA01045554;AC104836;AK296516;AMYH01000794;AY346333;BC013922;CH471097;NM_183242 AAH13922;AAQ24383;BAG59148;EAW73102;EAW73103;EAW73104;NP_899065;Q5XKL5 Hs.676102 1692784;1773267;1848017 AL033751;G15734;SHGC-75148 BTB/POZ domain-containing protein 8;OTTHUMP00000011944;OTTHUMP00000011945;double BTB/POZ domain containing protein protein-coding ENSG00000189195 21019 12542 VALIDATED 5128907 BTF3L4P1 basic transcription factor 3-like 4 pseudogene 1 21 21 4065581 4066084 - 18889252 18891379 - 100505945 ABBA01057120;AMYH01012149;AP000963;NG_028972;NG_029458 basic transcription factor 3-like 4 pseudogene 1;transcription factor BTF3 homolog 4-like pseudo 39645 INFERRED 5128906 BTF3L4P2 basic transcription factor 3-like 4 pseudogene 2 2 2 2 q24.2 153476913 153477981 + 159568511 159569377 + 159860162 159861230 + 11181995 653189 ABBA01004858;AC010093;AMYH01011204;NG_006120 BTF3L4P pseudo 39646 INFERRED 5128953 BTF3L4P4 basic transcription factor 3-like 4 pseudogene 4 4 4 q32.3 166849143 166849654 - 169519266 169519977 - 9847074 100506061 ABBA01070331;AC079926;AMYH01014697;NG_028949 pseudo 39648 INFERRED 1354341 BTF3P1 basic transcription factor 3, pseudogene 1 8 8 8 q11.23 48622062 48623852 - 52796779 52797298 - 52633816 52635606 - 1386332 693 ABBA01041691;AC090186;AMYH01018714;M90353;NG_001086 HUMBTFA pseudo 1129 INFERRED 736353 BTC betacellulin The protein encoded by this gene is a member of the EGF family of growth factors. It is synthesized primarily as a transmembrane precursor, which is then processed to mature molecule by proteolytic events. This protein is a ligand for the EGF receptor. [provided by RefSeq, Jul 2008] 4 4 q13.3 75890472 75938853 - 75671448 75719882 - 1580863;1357906;2306978;2306966;2306973;2306965;2313774;2306967;2324625;2326087;2317963;6480464;6484113;6907045 14988244;12148846;16683131;15793259;18388935;19819964;16306376;11564606;10724350;15982853 10940639;10706134;9662041;9528863;8919026;7590736;8144591;8439318;18508082;17962208;17895248;17525275;17479438;16869959;16381901;15936459;15507448;15489336;15489334;15274392;15248827;15192046;12768307;12477932;12111392;12074582;11522793;11254912;11076863;20165885;20530572;22183345 685 H0Y8Q5;P35070 AB109441;AB109443;ABBA01063340;AC098825;AC116645;AC123887;AMYH01014303;BC011618;CH471057;NM_001729;S55606 AAB25452;AAH11618;BAC76609;BAC76611;CAL37603;CAL37873;CAL38181;CAL38427;EAX05712;NP_001720;P35070 Hs.710156 1731861;2134874;2154385 D4S1633E;SHGC-35798;SHGC-59577 OTTHUMP00000160600;OTTHUMP00000219057;probetacellulin APPROVED protein-coding 1121 02643 600345 REVIEWED 5552923 BTF3L4P3 basic transcription factor 3-like 4 pseudogene 3 6 6 q23.3 137906727 137913765 - 137864639 137865580 - 20190752 391040 ABBA01025818;AL023580;AMYH01016701;NG_030609 1715753;1721225;5094216 G54617;G59456;RH119323 pseudo 39647 INFERRED 1315893 BTBD9 BTB (POZ) domain containing 9 This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011] 6 6 6 p21 39689759 40161407 - 38244205 38715902 - 38136227 38607924 - 1580863;6480464 19279021;19223043;18363860;17637780;17634447;16344560;14702039;12477932;11572484;21145461;19615732;19822783;20379614;22486183;21572129;21925394;22914617;21139048;21906983;21779176;22505724 114781 C9J8E4;C9JVC1;H7C5Z6;Q96Q07 AB067467;ABBA01038295;ABBA01038296;ABBA01038297;ABBA01038298;ABBA01038299;ABBA01038300;ABBA01038301;ABBA01038302;ABBA01038303;AK057507;AK090930;AK126242;AL031905;AL033518;AL079341;AL157476;AL355345;AL451162;AMYH01016285;AMYH01016286;AMYH01016287;BC035667;BC101354;BC101355;BC101356;BC101357;BX537534;CH471081;DA391209;DB095510;NG_016545;NM_001099272;NM_001172418;NM_052893;NM_152733 AAI01355;AAI01356;AAI01358;BAB67773;BAB71514;BAC03550;EAX03959;EAX03960;EAX03961;NP_001092742;NP_001165889;NP_443125;NP_689946;Q96Q07 Hs.603858 1340444;1649023;1649025;1655548;1661626;1661908;1693338;1694204;1701438;1704000;1705032;1732539;1751695;1752469;1775102;1777266;1855733;1856599;2126797;2131858;2161356;2165647;5020631 A005M39;AL034434;AL035196;D6Rat38;D6S1912;D6S2430;D6S389;D6S943;FB21E3;G20340;RH104351;RH16174;RH45619;RH46658;SHGC-105745;SHGC-106396;SHGC-77787;SHGC-78033;STS-AA019721;STS-R05478;STS-Z39767;WI-16237;WI-20491 FLJ32945;KIAA1880;MGC120517;MGC120519;MGC120520;dJ322I12.1 BTB/POZ domain-containing protein 9;OTTHUMP00000016336;OTTHUMP00000016338;OTTHUMP00000216692 APPROVED protein-coding ENSG00000183826 21228 12543 611237 REVIEWED 1313273 BTD biotinidase The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013] 3 3 p25 15618259 15662329 + 15643255 15687325 + 1580863;6480464;6907045;7240710 7509806;7550325;18645204;18479898;17185019;16341674;16335952;15776412;15489334;12618081;12477932;12359137;11668630;10737800;10655158;10206677;9654207;9530634;9396567;9099842;8001986;3930841;1679665;19728141;19757147;20539236;19806568;20549359;20556795;20532819;21378990;23314748;22911723;20301497 686 A6NHF2;B4DLJ9;C9J387;C9JSN9;F8W1Q3;F8WCU5;P43251 ABBA01025137;ABBA01025138;AC027129;AF018631;AI391654;AK294301;AK297033;AK301838;AK313252;AL573841;AMYH01013002;BC012099;BE814688;BE814713;BM565546;BM839350;BM919775;BP326502;CH471055;NG_008019;NM_000060;NM_001281723;NM_001281724;NM_001281725;NM_001281726;U03274 AAC04318;AAC21679;AAH12099;BAG36062;BAG57582;BAG59561;BAH13565;EAW64254;EAW64255;EAW64256;NP_000051;NP_001268652;NP_001268653;NP_001268654;NP_001268655;P43251 Hs.517830 1664988;1689849;1730387;1735254;1740031;1774635;2110285;2111384;2133217;2141658 BTD_8233;D17S1646E;D3S2760E;D3S2915E;D3S3311;D3S3496;D3S4178;RH91153;STS-U03274;WI-7349 OTTHUMP00000160300;OTTHUMP00000209134;OTTHUMP00000209135;OTTHUMP00000209138;biotinase;biotinidase APPROVED protein-coding ENSG00000169814 1122 08359 253260;609019 REVIEWED 1345867 BTF3P13 basic transcription factor 3 pseudogene 13 This locus defines a putative member of the BTF3 family of transcription factors and is thought to represent a pseudogene. [provided by RefSeq, Jul 2008] 4 4 4 q23 96956905 96957776 + 99880744 99881660 + 99661776 99662647 + 1580863 1386332 132556 ABBA01063660;AC114811;AMYH01014417;M90356;NG_006070 AAA58401 BTF3L3;HUMBTFD APPROVED pseudo 1128 603739 INFERRED 3340241 BTF3P14 basic transcription factor 3 pseudogene 14 17 17 17 p13.2 6246271 6247084 - 6059350 6167272 - 6225735 6226548 - 100132641 ABBA01054827;AC005668;AMYH01008056;NG_022441 2180232 D17S2125 pseudo 38571 INFERRED 1347464 BTF3P12 basic transcription factor 3 pseudogene 12 This locus represents a putative member of the BTF3 family of transcription factors. With no transcription yet documented, it is thought that this locus represents a pseudogene. [provided by RefSeq] 8 8 8 q13.3 67183184 67184089 + 71347952 71349049 + 71185498 71186403 + 1580863;6480464 1386332 652963 ABBA01041939;AC021558;AMYH01018782;M90355;NG_005366 AAB04035 BTF3L2;HUMBTFC APPROVED pseudo 1127 603738 INFERRED 3028811 BTF3P15 basic transcription factor 3 pseudogene 15 10 10 10 q25.1 105032230 105032710 + 111284403 111284883 + 111294413 111294887 + 100130409 ABBA01063040;AL589948;AMYH01003055;NG_028759 pseudo 38567 INFERRED 4144714 BTF3P16 basic transcription factor 3 pseudogene 16 3 3 3 q12.3 99568118 99568979 - 102658520 102659380 - 101175829 101176690 - 643412 ABBA01061776;AC110994;AMYH01013360;NG_005360 pseudo 38568 INFERRED 5553009 BTF3P3 basic transcription factor 3, pseudogene 3 8 8 p21.3 22405861 22406933 + 22350013 22350888 + 652964 ABBA01005519;AC037459;AC087854;AMYH01018566;NG_005367 pseudo 31100 INFERRED 3498029 BTF3P4 basic transcription factor 3 pseudogene 4 9 9 9 q21.13 45295192 45296051 - 73912199 73913258 - 74722479 74723338 - 392350 ABBA01033851;AL583829;AMYH01021404;NG_005362 pseudo 38566 INFERRED 1344981 BTF3P2 basic transcription factor 3, pseudogene 2 14 14 14 q12 9007695 9008544 - 28211854 28212804 - 29142198 29143047 - 283631 ABBA01061375;AL121766;AMYH01005628;NG_002470 pseudo 19924 INFERRED 3160707 BTF3P7 basic transcription factor 3 pseudogene 7 6 6 6 p25.1 8024624 8025469 - 6739788 6740822 - 6794889 6795734 - 652960 ABBA01022023;AL391535;AMYH01016059;NG_005364 pseudo 38569 INFERRED 3160708 BTF3P5 basic transcription factor 3 pseudogene 5 2 2 2 p16.1 55502437 55503260 - 55515436 55516447 - 55662032 55662855 - 652959 ABBA01075267;AC019198;AMYH01010362;NG_005363 pseudo 38565 INFERRED 3160706 BTF3P8 basic transcription factor 3 pseudogene 8 X X X q11.1 63333492 63334321 + 62903275 62904293 + 62986639 62987468 + 652961 ABBA01066821;AL451106;AMYH01022492;NG_005365;NG_016975 pseudo 38572 INFERRED 4109587 BTF3P6 basic transcription factor 3 pseudogene 6 21 21 q22.11 20090551 20091049 - 34890917 34891415 - 100499261 ABBA01057350;AMYH01012211;AP000303;NG_023442;NG_029160 1811444;1811930;2029126;2029128;2029130;2029132;2029134;2029136;2029138;2029140;2029142;2029144 ECD06721;ECD06969;REN85567;REN85568;REN85569;REN85570;REN85571;REN85572;REN85573;REN85574;REN85575;REN85576 pseudo 23765 INFERRED 1344506 BTF3P11 basic transcription factor 3 pseudogene 11 13 13 13 q22 58400594 58401233 + 76400101 76400936 + 77502585 77503224 + 1580863;6480464 12477932;9325059;1386332;18445777 690 ABBA01021659;AC000403;AMYH01005222;BC106717;BC106718;BC115358;CH471093;M90354;NR_026983 AAA58400;EAW80559 Hs.567241 1677742;5492555 RH76254;UniSTS:481612 BTF3L1;HUMBTFB;OCIF;OPG;TNFRSF11B APPROVED pseudo 1126 602543 PROVISIONAL 3231910 BTG1P1 B-cell translocation gene 1 pseudogene 1 12 12 12 p13.31 10824633 10825308 + 9178785 9179460 + 9287518 9288193 + 100129641 ABBA01012257;AC007436;AMYH01004244;NG_016577 pseudo 37692 INFERRED 1317667 BTF3 basic transcription factor 3 This gene encodes the basic transcription factor 3. This protein forms a stable complex with RNA polymerase IIB and is required for transcriptional initiation. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008] 5 5 5 q13.2 68689543 68696740 + 72830006 72837204 + 72794250 72801448 + 1580863;6480464 1386332;18025262;2320128;17312387;15716105;15489334;12477932;11329013;10094400;8125298;8047162;19615732;20972266;21139048;21890473;21906983;15492215;21832049;22863883;22939629;20000738;20016921;22053931;22505724 689 D6RDG3;H0Y9Y1;P20290 AB062126;ABBA01061918;AC099522;AK225964;AK291125;AK310919;AMYH01015406;BC008062;BC061913;BG182166;BT007120;BU661989;BX359147;BX537826;CH471084;M90352;M90357;NM_001037637;NM_001207;X53280;X74070 AAA58398;AAH08062;AAP35784;ABM83902;ABM87223;BAB93458;BAF83814;CAA37375;CAA52200;EAW95723;EAW95724;EAW95725;EAW95726;EAW95727;EAW95728;NP_001032726;NP_001198;P20290 Hs.591768 1848504;2115319;2179206;5019026 G42974;RH70088;STS-N23069;STS-N27423 BETA-NAC;BTF3a;BTF3b;NACB OTTHUMP00000128196;OTTHUMP00000128197;OTTHUMP00000222431;RNA polymerase B transcription factor 3;nascent-polypeptide-associated complex beta polypeptide;transcription factor BTF3 APPROVED protein-coding ENSG00000145741 1125 03966 602542 REVIEWED 2881281 BTF3P9 basic transcription factor 3 pseudogene 9 1 1 1 q42 200813009 200813549 + 225688052 225689264 + 227621767 227622307 + 12477932;21906983 503543 ABBA01009613;AL606462;AMYH01001780;BC062736;NG_004831 Hs.586511 5019026 G42974 pseudo 38573 INFERRED 1605903 BTF3L4 basic transcription factor 3-like 4 1 1 1 p32.3 50809334 50841560 + 52294561 52326652 + 52521857 52556388 + 6480464 22939629;16710414;15489334;14702039;12477932;11181995;22863883;16344560;21139048;19322201;22505724 91408 E9PL10;E9PPC3;Q96K17 ABBA01074781;AK027582;AK027750;AL139156;AL445685;AL606761;AMYH01000618;AX882440;BC021004;BC022371;BC070378;BU567198;BU785869;CH471059;DA369498;NM_001136497;NM_001243767;NM_152265 AAH21004;AAH22371;AAH70378;ABZ92137;BAB55342;BAG51353;CAE91581;EAX06795;EAX06796;EAX06797;EAX06798;EAX06799;NP_001129969;NP_001230696;NP_689478;Q96K17 Hs.429839 1690362;1717905;1739957;2122958;2129428;5037552 D1S2194;D1S2523;D8S2279;RH122826;RH18833;RH93314 MGC23908;MGC88389;RP4-800M22.5 OTTHUMP00000010514;OTTHUMP00000231781;OTTHUMP00000231782;OTTHUMP00000231783;transcription factor BTF3 homolog 4;transcription factor BTF3-like protein-coding ENSG00000134717 30547 17521 VALIDATED 1318793 BTG4 B-cell translocation gene 4 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. [provided by RefSeq, Jul 2008] 11 11 11 q23 108491434 108536253 - 110843465 110888274 - 111338255 111383079 - 1580863;6480464 10995567;18519671;15672409;12477932;11429045;11267995;16709802;19576178;20309940 54766 E9PRM5;Q8NEH7;Q9NY30 ABBA01039819;ABBA01039820;AJ271351;AMYH01004030;AP002008;BC031045;BX099301;CH471065;HC006790;HC044731;NM_017589 AAH31045;ABM81904;ABM84644;CAB69821;CBH19201;CBH30695;EAW67140;NP_060059;Q9NY30 Hs.128180;Hs.734027 1646835 D11S1137 MGC33003;PC3B BTG family member 4;OTTHUMP00000234045;protein BTG4;protein PC3b APPROVED protein-coding ENSG00000137707 13862 16138 605673 REVIEWED 69157 BTG2 BTG family, member 2 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein is involved in the regulation of the G1/S transition of the cell cycle. [provided by RefSeq, Jul 2008] 1 1 q32 201541287 201545353 + 203274664 203278730 + 1580863;2289074;2289078;2289068;2289069;2289070;2289075;2289081;6480464 14697320;9712737;16849553;14996721;11470758;12909328;7684483 22266859;17353931;8944033;19468252;19117054;18974182;18840609;18393292;18337750;18288394;18196550;18029348;17371797;16997058;16782888;16710414;16418486;15788397;15741235;15542835;15489334;15378000;15056715;12771185;12477932;12360398;12135500;11989967;11930152;11856371;11814693;22392501;11429045;11377414;11267995;11237868;11136725;10669755;10617598;10341341;10200315;9828097;9712883;8891336;8663146;1713584;20553615;19728149;19546886;19615363;20020054;19203451;20569234;18773938;21172304;20398657;22562501;21173166;22614007;21120602;23299537;23089312;22493435;22975506 7832 P78543 ABBA01027483;AF361937;AL513326;AMYH01001655;BC105948;BC105949;CH471067;NM_006763;U72649;Y09943 AAB37580;AAI05949;AAI05950;AAL05626;ABZ92453;CAA71074;EAW91475;EAW91476;NP_006754;P78543 Hs.519162 1795448;2179801 BTG2_75;SHGC-4213 MGC126063;MGC126064;PC3;TIS21 B-cell translocation gene 2;NGF-inducible anti-proliferative protein PC3;OTTHUMP00000033982;b-cell translocation gene 2, anti-proliferative;nerve growth factor-inducible anti-proliferative;pheochromacytoma cell-3;protein BTG2 APPROVED protein-coding ENSG00000159388 1131 03357 601597 REVIEWED 736072 BTG1 B-cell translocation gene 1, anti-proliferative This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008] 12 12 q22 91061030 91063751 - 92534054 92539673 - 2298943;6480464 16245302 9820826;11420681;15033446;1373383;9690562;16344560;15674337;15489334;14734530;12477932;12135500;11856371;11429045;11136725;10617598;8663146;2069907;16189514;20445134;18029348;18814951;19515430;9712883;20354172;22868968;22990118;21900206;22072402;22975506 694 F8W0U7;P62324;Q6IBC8 ABBA01053398;AC025164;AK307057;AK313309;AMYH01004654;AY850133;BC009050;BC016759;BC064953;BT019839;BT019840;BT019841;CH471054;CR456876;CR541782;DB042281;NM_001731;S38424;S38425;X61123 AAA08538;AAH16759;AAH64953;AAV38642;AAV38643;AAV38644;AAV97814;ABW03541;ABW03845;BAG36114;CAA43435;CAG33157;CAG46581;EAW97466;EAW97467;NP_001722;P62324 Hs.255935 1649373;1744005;1795224 BTG1_60;GDB:384770;RH45870 B-cell translocation gene 1 protein;OTTHUMP00000242800;protein BTG1 APPROVED protein-coding 1130 15912 109580 REVIEWED 733952 BTG3 BTG family, member 3 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein might play a role in neurogenesis in the central nervous system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 21 21 21 q21.1 4140718 4160017 - 17887842 17907033 - 18965968 18985268 - 1580863;6480464 9632145;19221000;18590053;17690688;16713569;16344560;15489334;12477932;11429045;11377414;10940556;10830953;9067576;21145461;20360068;21078624;22020331;21906983;21963094;23533280 10950 C9JLA2;Q14201;Q6IAU3 ABBA01057122;AF200465;AK289408;AL049332;AMYH01012150;AP000432;AP000967;BC011957;BC028229;BF110486;BT007276;CH471079;CR457061;D64110;DA381239;DR155504;NM_001130914;NM_006806 AAF24345;AAH11957;AAP35940;ABM82261;ABW03379;BAA33788;BAF82097;CAG33342;EAX10026;EAX10027;EAX10028;EAX10029;NP_001124386;NP_006797;Q14201 Hs.473420 1686664;1688654;1784486;1795450 BTG3_1548;RH45478;RH79886;SHGC-172493 ANA;MGC8928;TOB5;TOB55;TOFA B-cell translocation gene 3;OTTHUMP00000083229;OTTHUMP00000083230;abundant in neuroepithelium area protein;protein BTG3;protein Tob5 APPROVED protein-coding ENSG00000154640 1132 10415 605674 REVIEWED 1350737 BTLA B and T lymphocyte associated This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011] 3 3 q13.2 113665503 113701098 - 112182813 112218408 - 1580863;6480464 21403914;22459947;22179929;14702039;12796776;14652006;12477932;10737800;19207938;19155498;17257317;17024343;16643847;16169851;16131544;15647361;15568026;15489334;16932752;19585237;19762537;19915044;20066438;20331378;20693422;22691359;21592997;21920726;21959263;21982860;22903545;22205715;22634623 151888 Q400G7;Q7Z6A9 AA828425;ABBA01061663;ABBA01061664;AC092894;AI792952;AJ717664;AK131204;AK292692;AMYH01013392;AW294080;AY293286;AY599411;AY606805;BC107091;BC107092;BE832323;CD702861;DQ198368;NM_001085357;NM_181780 AAI07092;AAI07093;AAP44003;AAT44901;AAV41229;ABA54407;BAD18396;BAF85381;CAG30680;NP_001078826;NP_861445;Q7Z6A9 Hs.445162 2164471 AFMC026XC9 BTLA1;CD272;FLJ16065;MGC129743 B and T lymphocyte attenuator;B- and T-lymphocyte attenuator;B- and T-lymphocyte-associated protein;OTTHUMP00000214514;OTTHUMP00000214515 APPROVED protein-coding ENSG00000186265 21087 06392 607925 VALIDATED 1315909 BTN1A1 butyrophilin, subfamily 1, member A1 Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008] 6 6 p22.1 26608550 26618629 + 26501495 26510653 + 1580863;6480464 8611614;19084217;16498413;15489334;14574404;12477932;12456835;11170752;10429365;10376248;9382921;8132890;8114113;7775382;6830779;19531472;19596235;21915327 696 Q13410;Q4VAN2 AA768577;ABBA01066556;AL121936;AMYH01016163;AW977526;BC096312;BC096313;BC096314;BC096315;CH471087;NM_001732;U39576 AAC50489;AAH96312;AAH96313;AAH96314;AAH96315;EAW55585;NP_001723;Q13410 Hs.153058 1681933;1683497;2106453;2173140 BTN1A1_4475;D6S2360;RH80832;RH91955 BT;BTN OTTHUMP00000017981;bK14H9.2 (butyrophilin, subfamily 1, member A1);butyrophilin subfamily 1 member A1 APPROVED protein-coding ENSG00000124557 1135 03365 601610 VALIDATED 1353022 BTN2A1 butyrophilin, subfamily 2, member A1 This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] 6 6 6 p22.1 27687469 27699163 + 26566168 26577844 + 26458153 26476849 + 6480464 9382921;17785817;14702039;14574404;12477932;11170752;9149941;22576629;21211798;21468600;17207965;16344560;21347509;21557786;21525964;21784758;21672009;21139048;21890473 11120 C9JNC3;H7BYC3;H7C542;Q96AV7 AB209777;ABBA01066556;AK093886;AK297098;AL050330;AL121936;AMYH01016163;AW007668;BC016661;BX452202;BX538050;CH471087;DB265775;DC341201;DC348937;DC414685;HY157783;NM_001197233;NM_001197234;NM_007049;NM_078476;U90142;U90543;U97495;U97496;U97497 AAB53421;AAC02650;AAC02653;AAC02654;AAH16661;ADQ31707;BAD93014;BAG59611;CAD97989;EAW55577;EAW55578;EAW55579;EAW55580;EAW55581;EAW55582;NP_001184162;NP_001184163;NP_008980;NP_510961;Q7KYR7 Hs.159028 1665142;1687029;1846668;5015861;5037552;7185938 D10S16;D6S1239E;D8S2279;RH26411;RH46612 BK14H9.1;BT2.1;BTF1;DJ3E1.1;FLJ36567 OTTHUMP00000016170;OTTHUMP00000214571;OTTHUMP00000214572;butyrophilin BTF1;butyrophilin subfamily 2 member A1 APPROVED protein-coding ENSG00000112763 1136 12544 613590 REVIEWED 1342660 BTK Bruton agammaglobulinemia tyrosine kinase The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. [provided by RefSeq, Nov 2008] X X q21.33-q22 100491098 100527838 - 100604435 100641212 - 1600526;1580863;5131492;6480464;6484113;6907045;7240710 8162018;15380937 8834236;8758136;8723128;8695804;8634718;8630736;8629002;8617237;8594569;8425221;8380905;8283037;8258324;8162056;8125298;8090769;8058772;7972043;7959728;7927535;7925280;7907259;7897635;7880320;7849721;7849697;7849006;7809124;7711734;7633429;7633420;7629518;7627183;7626884;7522330;2881637;1915549;9012831;8892607;12093870;11431473;16640565;10981967;12679936;19471023;8688094;19464057;8013627;19342689;19212330;19206206;19039656;19017959;18809383;18776760;18726917;18548107;18241233;18051214;18029348;18022864;17932028;17765309;17707910;17264076;16951917;16751014;16517732;16439361;16415872;16344560;16300960;16159644;16141323;15939795;15894173;15849198;15772651;15712380;15489334;15466623;15375214;11913944;11577348;15046600;15203319;15184383;15087455;15082835;15007095;14974089;14702039;14634110;14623887;14614850;12970174;12854903;12810683;12769846;12768435;12724322;12573241;12477932;12445832;12437073;12405164;12235133;12204007;12001708;11934902;11920564;11877742;11788586;11751885;11742120;11698416;11668622;11665629;11598012;11527964;11524430;11507089;11438999;11434777;11413148;11373296;11329620;11313464;11231015;11226282;11163197;10872802;10612838;10561498;10556826;10498607;10427990;10373551;10339589;10220140;10201980;10196129;10068673;9837922;9796816;9770463;9751072;9742969;9571151;9545398;9485443;9445504;9333013;9280283;9260159;9218782;9201297;9178903;9110171;9016530;22378381;22623531;21822214;22745667;15355990;16969585;17290227;17823121;19807924;19859091;19904586;19949111;20052711;20056178;21039741;20574453;19913121;20628086;20936779;20634142;20301626;15096481;20715177;21832049;18596081;21422473;21482705;21622861;21659545;19290921;21991724;22053596;21784852;22366891;16964398;18067320;21080425;21988832;22939624;19953087;21890473;21906983;22312945;10826882;22527282;9408950;22589540;19380743;22689860;15539407;23239500 695 Q06187;Q5JY90 ABBA01044974;ABBA01044975;ABBA01044976;ABBA01044977;ABBA01044978;AF153364;AF153755;AF153756;AF153757;AF153758;AF153759;AF153760;AF153761;AF153762;AF153763;AF153764;AJ888376;AJ888377;AJ888378;AJ888380;AJ888381;AK057105;AK225577;AK309851;AK314382;AL035422;AM051275;AM051276;AM051277;AM051278;AM051279;AM051280;AM051281;AM051282;AM051283;AM051284;AM051285;AM051286;AMYH01022725;BC109079;BC109080;CH471115;DA619542;DB636737;L31572;NG_009616;NM_000061;U10087;U13433;U78027;X58957 AAA61479;AAB60639;AAB64205;AAC51347;AAF37332;AAF37333;AAF37334;AAF37335;AAF37336;AAF37337;AAF37338;AAF37339;AAF37340;AAF37341;AAF61477;AAI09080;AAI09081;BAG37008;BAG51864;CAA41728;CAI59836;CAI59837;CAI59839;CAI59840;CAI59842;CAJ19681;CAJ19682;CAJ19683;CAJ19684;CAJ19685;CAJ19686;CAJ19687;CAJ19688;CAJ19689;CAJ19690;CAJ19691;CAJ19692;EAX02856;EAX02857;EAX02858;NP_000052;Q06187 Hs.159494 1655766;1664319;1676150;1678075;1694920;1701868;1702402;1745413;2106451;2154659;2220306;5016482;5117456;7184725 BTK;BTK_4321;DXS178;DXS7424;G44349;GDB:376892;GDB:555566;GDB:555569;GDB:607597;RH35738;RH70553;RH70566;RH80171;RH93533 AGMX1;AT;ATK;BPK;IMD1;MGC126261;MGC126262;PSCTK1;XLA B-cell progenitor kinase;OTTHUMP00000023676;OTTHUMP00000023677;agammaglobulinaemia tyrosine kinase;dominant-negative kinase-deficient Brutons tyrosine kinase;tyrosine-protein kinase BTK;tyrosine-protein kinase BTK isoform (lacking exon 14) APPROVED protein-coding ENSG00000010671 1133 02248 300300;300755;307200 REVIEWED 1343392 BTNL1 butyrophilin-like 1 8114113;10803852 697 1141 6480792 BTNL10 butyrophilin-like 10 1 q42.13 228696347 228699989 - 6480464 100129094 A8MVZ5 ABBA01005838;AL139288;AMYH01001796;CH471098;DY654633;XM_001722031;XM_001722254;XM_003960279 A8MVZ5;EAW69883;XP_001722083;XP_001722306;XP_003960328 Hs.730208 1698098 RH102581 BUTR1 butyrophilin related 1;butyrophilin-like protein 10;similar to hCG2036765 protein-coding 42540 MODEL 1346357 BTN2A3P butyrophilin, subfamily 2, member A3, pseudogene The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A3) and BTN3 (e.g., BNT3A1; MIM 613593) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010] 6 6 6 p22.1 27650899 27660096 + 26530326 26539822 + 26421619 26430816 + 1580863 20208008;16344560;14702039;14574404;12477932;11170752 54718 Q96KV6;Q96MJ0 ABBA01066556;AK056871;AK292658;AL021917;AMYH01016163;BC143636;CH471087;DA706324;DB133005;NR_027795 AAI66633;BAB71298;BAF85347;CAC69644;EAW55569;EAW55570;EAW55571;Q96KV6 Hs.729655 2172853;5015961 D15S1477;D6S2365 BTN2A3 APPROVED pseudo ENSG00000124549 13229 12546 613592 VALIDATED 1348046 BTNL4 butyrophilin-like 4 444889 17413 1345080 BTNL5 butyrophilin-like 5 444890 17414 1344541 BTNL6 butyrophilin-like 6 444891 17415 1347001 BTNL7 butyrophilin-like 7 444892 19413 1315891 BTN2A2 butyrophilin, subfamily 2, member A2 Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] 6 6 6 p22.1 27612635 27624383 + 26491333 26503081 + 26383324 26395102 + 6480464 15489334;14702039;14574404;12477932;12124930;11170752;10354554;9149941;19571809;15342556;21906983 10385 C9IY66;C9IZY2;C9J8J5;C9J8R3;C9JAJ6;C9JWH2;F8WC65;H7C4E8;Q8WVV5 ABBA01066555;AK123902;AK289883;AK293526;AK298570;AK304744;AL021917;AL832800;AMYH01016163;BC013258;BC014021;BC017497;BI754184;BP234194;CH471087;DC373063;DC388932;NM_001197237;NM_001197238;NM_001197239;NM_001197240;NM_006995;NM_181531;U90550 AAB53428;AAH14021;AAH17497;BAF82572;BAG57008;BAG60763;BAG65503;EAW55561;EAW55562;EAW55563;EAW55564;EAW55565;NP_001184166;NP_001184167;NP_001184168;NP_001184169;NP_008926;NP_853509;Q8WVV5 Hs.373938 1855129;2126479;2142639 NIB885;RH15843;RH18496 BT2.2;BTF2;FLJ41908 OTTHUMP00000016167;OTTHUMP00000214441;OTTHUMP00000214442;OTTHUMP00000214443;OTTHUMP00000214444;OTTHUMP00000214445;OTTHUMP00000214447;butyrophilin 2;butyrophilin subfamily 2 member A2 APPROVED protein-coding ENSG00000124508 1137 12545 613591 REVIEWED 1350246 BTNL3 butyrophilin-like 3 5 5 5 q35.3 176039572 176057449 + 180348507 180366333 + 180415845 180433727 + 6480464 10429365;12975309;12477932;16344560 10917 Q6UXE8 AB020625;ABBA01010087;AC091874;AK025267;AMYH01015973;AY358385;BC100800;BC100801;BC100802;CH471165;DA431389;NM_197975 AAI00801;AAI00802;AAI00803;AAQ88751;BAA76664;EAW53729;EAW53730;NP_932079;Q6UXE8 Hs.225949 1785324 SHGC-111734 BTNLR OTTHUMP00000221218;butyrophilin-like protein 3;butyrophilin-like receptor protein-coding ENSG00000168903 1143 08393 606192 VALIDATED 1353557 BTNL2 butyrophilin-like 2 (MHC class II associated) 6 6 p21.3 32470491 32482878 - 32362513 32374900 - 6480464;7240710 21410903;19140834;19122664;19116923;19050377;18987644;18836448;17927685;17661910;17610417;17493147;17347014;17237401;17170388;16984233;16690410;16321988;16080124;15735647;15516930;12477932;10803852;20410501;22991420;22751097;22797724;20560297;21326295;20587610;20691797;19143814;19287509;19659809;19851445;19861958;19882345;19915573;19936222;20041166;20176143;20237496;20305777;20378664;20453000;19760754;21072187;20935629;21297633;21256912;23017494;21853121;22071774;21804548;21906983;22936702;23028341;23028483;23321320;23472185 56244 F5H556;F6UPS5;F8W1U8;F8W1V0;F8WBA1;F8WDK6;Q5SU36 ABBA01038110;ABBA01038111;AF186588;AF186590;AF186593;AL034394;AL662796;AL670296;AL935032;AMYH01016238;AY684332;AY684333;AY881999;BC119668;BC127641;BC127642;BX255945;BX908732;CH471081;CR752644;CR753634;CR759773;CR759917;CU019529;NM_019602;Z84814 AAF05530;AAI19669;AAI27642;AAI27643;AAV91022;AAV91023;AAX35330;AAX35331;CAC69895;CAI42177;CAI42180;EAX03627;EAX03628;NP_062548;Q9UIR0 Hs.534471 BTL-II;HSBLMHC1;SS2 OTTHUMP00000194895;OTTHUMP00000215336;butyrophilin-like protein 2 protein-coding ENSG00000204290 1142 12077 606000;612387 PROVISIONAL 1346965 BTN3A1 butyrophilin, subfamily 3, member A1 The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A1) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010] 6 6 6 p22.1 27631745 27644724 + 26510460 26523421 + 26402465 26415444 + 1580863;6480464 9149941;16344560;15489334;14574404;12477932;11170752;9382921;8125298;16712791;21113407;19571809;20208008;21906983;21918970;21963094;22505724;22767497;22846996 11119 A6PVC0;A8K547;E7EPR2;E9PFB8;Q147X5 AA977088;ABBA01066556;AK223474;AK290193;AK291162;AK295720;AK298652;AK299327;AK311233;AL021917;AMYH01016163;BC065567;BC118586;BC121800;BG744194;BM147268;BM542639;BU178206;BU617041;CA309315;CB148209;CD110416;CH471087;DA044176;DC417480;NM_001145008;NM_001145009;NM_007048;NM_194441;T86577;U90552;Y07827 AAB53430;AAI18587;AAI21801;BAD97194;BAF82882;BAF83851;BAG58563;BAG60824;BAG61334;CAA69164;EAW55566;EAW55567;NP_001138480;NP_001138481;NP_008979;NP_919423;O00481 Hs.191510 1771764;1854871;2145189;2159482;5106902 D6S2363;RH37463;STS-H72375;WI-14381;WI-18313 BT3.1;BTF5;CD277;MGC141880 OTTHUMP00000016163;OTTHUMP00000164619;OTTHUMP00000222000;OTTHUMP00000222001;butyrophilin subfamily 3 member A1;dJ45P21.3 (butyrophilin, subfamily 3, member A1) APPROVED protein-coding ENSG00000026950 1138 10693 613593 VALIDATED 1349027 BTS1 bladder tumor susceptibility 1 619606 9310135 698 1147 1349753 BTN3A3 butyrophilin, subfamily 3, member A3 The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010] 6 6 6 p21.3 27669980 27682923 + 26548742 26561622 + 26440700 26453643 + 1580863;6480464 15489334;15340161;14574404;12477932;11170752;10354554;9149941;8125298;20208008;16344560;21906983;22505724 10384 C9J3Q8;C9J877;C9JNZ3;C9JQT8;C9JUV8;C9JVU4;C9JZT5;D0FY33;O00478 AB209581;ABBA01066556;AK223279;AK223301;AK291722;AK301553;AL021917;AMYH01016163;BC015815;BT007251;BX341863;CH471087;DA445999;DC410234;NM_001242803;NM_006994;NM_197974;U90548 AAB53426;AAH15815;AAP35915;ABM83522;ABW03508;BAD92818;BAD96999;BAD97021;BAF84411;BAG63049;EAW55572;EAW55573;EAW55574;EAW55575;EAW55576;NP_001229732;NP_008925;NP_932078;O00478 Hs.167741 1789605;2108711;2109099;2140641;2189675;5106902 BTN3A2_9221;BTN3A3_9097;D6S2231;D6S2361;JA05;WI-14381 BTF3 OTTHUMP00000016166;OTTHUMP00000214539;OTTHUMP00000214557;butyrophilin 3;butyrophilin subfamily 3 member A3 APPROVED protein-coding ENSG00000111801 1140 12548 613595 VALIDATED 1346267 BTN3A2 butyrophilin, subfamily 3, member A2 This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] 6 6 6 p22.1 27594686 27607836 + 26473377 26486527 + 26365398 26378548 + 1580863;6480464 19295542;19204726;15489334;14574404;12477932;11170752;9382921;9149941;19571809;12124930;14702039;21906983;21113407;21918970;21963094;22767497;22846996;22966150;22505724;22685580 11118 A8K4B5;E9PIU5;E9PJE9;E9PRR1;E9PRX1;Q76PA0 ABBA01066555;AF257505;AK097330;AK290880;AK299417;AK303600;AK312847;AL021917;AMYH01016163;BC002832;BC020214;BC067086;CD686792;CD705662;CH471087;NM_001197246;NM_001197247;NM_001197248;NM_001197249;NM_007047;U90143;U90144;U90546;U97499;U97502 AAB53424;AAC02651;AAC02652;AAC02655;AAC02656;AAF76140;AAH02832;AAH20214;BAF83569;BAG35700;BAG61399;BAG64615;EAW55557;EAW55558;EAW55559;EAW55560;NP_001184175;NP_001184176;NP_001184177;NP_001184178;NP_008978;P78410 Hs.376046 1721677;1771764;1771790;1775008;2109099;2140608;2140641;5022200;5022651;5037552;5106902 BTN3A2_9221;D11S2921;D6S2361;D6S2366;D8S2279;G59850;L18426;RH15842;WI-14381;WI-18313;WIAF-1460 BT3.2;BT3.3;BTF4;CD277;FLJ40011 OTTHUMP00000016164;OTTHUMP00000016165;OTTHUMP00000195579;OTTHUMP00000232115;butyrophilin protein;butyrophilin subfamily 3 member A2 APPROVED protein-coding ENSG00000186470 1139 12547 613594 REVIEWED 1351143 BTNL8 butyrophilin-like 8 5 5 5 q35.3 175949998 176001633 + 180258735 180310512 + 180326077 180377906 + 6480464 16344560;15340161;14702039;12975309;12477932;8125298 79908 D6R9I8;D6RIR7;F8W712 ABBA01010087;AC022413;AC091874;AK025111;AK225213;AK296597;AK298687;AK308012;AK309639;AMYH01015972;AY358523;BC119696;BC119697;CH471165;DA425770;NM_001040462;NM_001159707;NM_001159708;NM_001159709;NM_001159710;NM_024850 AAI19697;AAQ88887;BAB15069;BAH12395;BAH12847;EAW53732;EAW53733;NP_001035552;NP_001153179;NP_001153180;NP_001153181;NP_001153182;NP_079126;Q6UX41 Hs.189109 1335325;2166457 D5S2006;D5S2724 FLJ21458;FLJ51528;MGC149619 B7-H5 costimulatory molecule;OTTHUMP00000161540;OTTHUMP00000221844;OTTHUMP00000221845;OTTHUMP00000221846;OTTHUMP00000221847;OTTHUMP00000221848;butyrophilin-like protein 8 protein-coding ENSG00000113303 26131 12549 VALIDATED 1353775 BTNL9 butyrophilin-like 9 5 5 5 q35.3 176091046 176116223 + 180399854 180421121 + 180467225 180488523 + 6480464 15489334;14702039;12975309;12477932 153579 A6NJ33;B7Z4Y8;Q6UXG8;Q8N324 ABBA01010089;ABBA01010090;AC008620;AC091874;AK057097;AK298113;AL833663;AMYH01015973;AY358358;BC029040;BC042112;BC062459;CH471165;CQ789638;DC379841;NM_152547 AAH29040;AAH42112;AAH62459;AAQ88724;BAB71365;BAH12724;CAG24379;EAW53724;EAW53725;EAW53726;EAW53727;EAW53728;NP_689760;Q6UXG8 Hs.546502 1728531;1735442;1847962;2133507;2146108;2165881;5037552 D5S1574E;D8S2279;G63703;RH41950;RH46520;SHGC-64030;STS-T47960 BTN3;VDLS1900 OTTHUMP00000082750;OTTHUMP00000082751;butyrophilin 3;butyrophilin-like protein 9 protein-coding ENSG00000165810 24176 12550 VALIDATED 1316316 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008] 15 15 q15 38240530 38300629 + 40453210 40513337 + 1580863;1600540;2326105;2324871;6480464;6907045;7240710 15475955;17242465;18497548 9763420;11285280;10477750;14593737;15504738;11535616;11742988;19154722;19139432;19139399;19117984;18932004;18710370;18699967;18691855;18547097;18440313;18286482;17676298;17498870;17478512;17464181;17376779;17350465;17268814;17210994;16411201;16227576;16144904;15592459;15190214;14706340;14576821;12477932;12445743;12419313;12388768;11907259;11792804;11782350;11702782;11283619;11274370;19015317;11256614;11129339;11030144;10749118;10593653;10366450;21472690;21937719;9914370;9889005;9660858;9618306;9521327;12196507;15388328;15525512;20516114;20189264;20459534;16449973;20146332;12925705;16760428;17227893;17363900;17443186;17981135;18997788;19074885;19407811;19411850;19465021;19468067;19503101;19550118;19603021;19745606;19789190;19926498;20132214;20204288;20453000;9482735;21199919;21389084;21550059;22863883;23079597;20220147;21407176;21988832;23007861;17598981;19098431;20237434;20512932;21525009;21069850;19820702;20360068;20733051;21139048;21890473;21906983;22000412;22048964;22118674;22193957;20231385;22167194;22100920;21926987;18654987;17360335;18591651;21335556;21336306;22374677;22698286;22566641;22801780;23091007;23160376;23239745;23392733;23455478 701 H0YMK5;H0YN44;Q59HH6 AB208782;ABBA01038457;ABBA01038458;AC025429;AF035933;AF046079;AF046918;AF053306;AF068760;AF107297;AF310214;AF441125;AI742619;AK296795;AK296984;AK312709;AL597325;AMYH01006558;BC018739;CH471125;NG_016338;NM_001211 AAC06260;AAC12730;AAC19118;AAC23736;AAC33435;AAD11941;AAH18739;AAL10712;ADZ15521;BAD92019;BAG35587;BAG59371;BAG59525;EAW92394;NP_001202;O60566 Hs.513645 2171962 RH46590 BUB1beta;BUBR1;Bub1A;MAD3L;MVA1;SSK1;hBUBR1 MAD3/BUB1-related protein kinase;OTTHUMP00000160319;budding uninhibited by benzimidazoles 1 homolog beta;mitotic checkpoint kinase MAD3L;mitotic checkpoint serine/threonine-protein kinase BUB1 beta APPROVED protein-coding ENSG00000156970 1149 04176 114500;176430;257300;602860 REVIEWED 1606207 BUD13 BUD13 homolog (S. cerevisiae) 11 11 11 q23.3 113774294 113799111 - 116124099 116148914 - 116618886 116643714 - 6480464 19010793;18193046;18193044;16344560;15302935;12477932;8889548;8125298;19656773;20442857;20838585;20864672;21160409;20571754;21386085;22365833;23505323;21182205;22437554;15565172;20360068;21729881;21909109 84811 H7C462;Q9BRD0 ABBA01039748;AK057832;AK130600;AK225164;AK289635;AK291111;AK311068;AMYH01004054;AP006216;BC006350;BU731866;CA432582;CH471065;DA042987;NM_001159736;NM_032725 AAH06350;ABM83689;ABM86992;BAB71593;BAF82324;BAF83800;EAW67265;EAW67266;NP_001153208;NP_116114;Q9BRD0 Hs.437341 1644255;1799122;1800044;1802170;1806398;1818486;1818928;1819100;1822632;1822780;1825034;1825116;1829756;1832110;1838136;1840100;1841252;1845566;2004504;2004506;2004508;2004510;2004512;2004514;2004516;2004518;2004520;2004522;2004524;2004526;2004528;2004530;2004532;2004534;2004536;2004538;2004540;2004542;2004544;2004546;2004548;2004550;2004552;2004554;2004556;2004558;2004560;2004562;2004564;2004566;2004568;2004570;2004572;2004574;2004576;2004578;2004580;2004582;2004584;2004586;2004588;2004590;2004592;2004594;2004596;2004598;2004600;2004602;2004604;2004606;2004608;2004610;2004612;2004614;2004616;2004618;2004620;2004622;2004624;2004626;2004628;2004630;2004632;2004634;2004636;2004638;2004640;2004642;2004644;2004646;2004648;2004650;2004652;2004654;2004656;2004658;2004660;2004662;2004664;2004666;2004668;2004670;2004672;2004674;2004676;2004678;2004680;2004682;2004684;2004686;2004688;2004690;2096850;2096852;2096854;2096856;2096858;2096860;2096862;2096864;2096866;2096868;2096870;2096872;2096874;2096876;2096878;2096880;2096882;2096884;2096886;2096888;2096890;2127449;5093972 A009Z45;ECD00407;ECD00877;ECD01967;ECD04155;ECD10304;ECD10528;ECD10616;ECD12404;ECD12478;ECD13616;ECD13659;ECD16010;ECD17193;ECD20240;ECD21234;ECD21822;ECD24001;G33031;REN73164;REN73165;REN73166;REN73167;REN73168;REN73169;REN73170;REN73171;REN73172;REN73173;REN73174;REN73175;REN73176;REN73177;REN73178;REN73179;REN73180;REN73181;REN73182;REN73183;REN73184;REN73185;REN73186;REN73187;REN73188;REN73189;REN73190;REN73191;REN73192;REN73193;REN73194;REN73195;REN73196;REN73197;REN73198;REN73199;REN73200;REN73201;REN73202;REN73203;REN73204;REN73205;REN73206;REN73207;REN73208;REN73209;REN73210;REN73211;REN73212;REN73213;REN73214;REN73215;REN73216;REN73217;REN73218;REN73219;REN73220;REN73221;REN73222;REN73223;REN73224;REN73225;REN73226;REN73227;REN73228;REN73229;REN73230;REN73231;REN73232;REN73233;REN73234;REN73235;REN73236;REN73237;REN73238;REN73239;REN73240;REN73241;REN73242;REN73243;REN73244;REN73245;REN73246;REN73247;REN73248;REN73249;REN73250;REN73251;REN73252;REN73253;REN73254;REN73255;REN73256;REN73257;WI-18293;stSG601742;stSG601743;stSG601744;stSG601745;stSG601746;stSG601747;stSG601748;stSG601749;stSG601750;stSG601751;stSG601752;stSG601753;stSG601754;stSG601755;stSG601756;stSG601757;stSG601758;stSG601759;stSG601760;stSG601761;stSG601762 Cwc26;FLJ27090;MGC13125;fSAP71 BUD13 homolog;OTTHUMP00000042639;OTTHUMP00000042640;functional spliceosome-associated protein 71 protein-coding ENSG00000137656 28199 11307 VALIDATED 1353106 BVES-AS1 BVES antisense RNA 1 6 6 q21 106207712 106239953 + 105585562 105617820 + 14574404;17974005;21654844 154442 Q5T3Y7 ABBA01014398;ABBA01014399;AL137368;AL356775;AL359709;AMYH01016559;NR_037157 Q5T3Y7 Hs.586271 1674928;1688490;1786058;2159781 RH46697;RH93144;SHGC-155565;WI-15170 C6orf112;DKFZp434F2226;bA99L11.2 chromosome 6 open reading frame 112 APPROVED miscrna ENSG00000203808 21223 VALIDATED 1347250 BVR1 Burkitt lymphoma variant rearranging region 1 700 M16601 1153 1323304 BUB1 BUB1 mitotic checkpoint serine/threonine kinase This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 2 2 q14 111111881 111152135 - 111395409 111435684 - 1600539;1580863;6480464;6907045 9521327 17488820;11999574;22660415;9790499;9660858;19487456;19252416;19242126;19182530;19141287;19015261;18995837;18922873;18791270;18547097;18383837;18036341;17925231;17620410;17617734;17388661;17210994;17158872;16760428;16525682;16449967;16189514;16046481;15933723;15931389;15818396;15723797;15604152;15525512;15489334;15342556;15013707;14702039;12782591;12655561;12477932;12419313;12375025;12096343;11792804;11782350;11352911;11283619;11134360;10969775;10366450;10198256;9914370;9441741;8125298;15388328;21199919;15020684;17227893;17981135;18029348;19465021;20468071;20929775;20660191;20628624;20643875;20220147;21963094;21988832;21646403;22099307;20360068;21092550;22318606;20309963;21139048;22071147;20231385;23383610;22505724 699 C9IYH4;C9JQA4;C9JRC7;E9PC26;F5GXI5;O43683 ABBA01001561;AC114776;AC226101;AF011387;AF043294;AF046078;AF047471;AF053305;AF139363;AF264055;AI635394;AK023540;AK225317;AK291221;AK302418;AMYH01010925;BC017038;BC028201;BP313176;CH471237;DB453210;HC250947;HC311136;NG_012048;NM_001278616;NM_001278617;NM_004336 AAB97855;AAC03122;AAC06259;AAC12729;AAC39546;AAD43675;AAH17038;AAH28201;AAK29549;AAY14706;ADZ15937;BAF83910;BAG63724;CBJ05771;CBJ21223;EAW50355;NP_001265545;NP_001265546;NP_004327;O43683 Hs.469649 1299936;2107901;2116695;2158007 151XD12;AFMa037yb9;BUB1_8234;D2S1888 BUB1A;BUB1L;hBUB1 BUB1 budding uninhibited by benzimidazoles 1 homolog;OTTHUMP00000204238;OTTHUMP00000204239;budding uninhibited by benzimidazoles 1 homolog;mitotic checkpoint serine/threonine-protein kinase BUB1;mitotic spindle checkpoint kinase;putative serine/threonine-protein kinase APPROVED protein-coding ENSG00000169679 1148 03907 602452 REVIEWED 1347748 BTRC beta-transducin repeat containing E3 ubiquitin protein ligase This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012] 10 10 q24.32 103103815 103307060 + 103113790 103317078 + 1580863;2293188;5510026;6480464;6907045 18432252;20635334 9859996;12791267;9990853;9660940;12820959;15469984;19372209;19240121;19150432;19106159;19061640;18650423;18460583;18378770;18372914;18354483;18354482;18316598;18052253;17965458;17491012;17387146;17319651;17295679;17217622;17053147;16757476;16705181;16691619;16651270;16371461;16303288;16189514;16165251;15927956;15917222;15735746;15489334;15340078;15070733;14988407;14676825;14603323;14561767;14526201;12902344;12482991;12477932;12151397;12124804;12114015;12077367;12037680;11994270;11850407;11818547;11696595;11359933;11278695;10983987;10918611;22590978;10835356;10828603;10803460;10713156;10644755;10564661;16385451;16885021;16885022;17327410;17500058;17510365;18521620;19478868;10531035;10514424;10331953;10228155;10072378;9990852;8889548;16354571;17121803;18296647;18617892;18765672;12609982;11158290;14743216;15782160;22751928;22454292;19515779;19557001;19615732;19797085;19822658;19931512;20048001;20102634;20378537;20379614;11483504;21138764;20503246;14516475;15485837;21070969;14673179;15448698;16219772;16798748;16865698;19297328;19966869;20625400;20852628;20516151;15647282;15798217;15855639;15966899;20844743;15140882;15314162;20736409;19411070;20140206;20708156;14681206;21051950;23115237;23297342;11238952;21310048;10066435;10514433;17445772;21454620;10075690;21430439;23071779;10074433;16196087;18056411;19196987;19656241;20068069;20442859;21521785;21807946;11001584;19240029;19933270;20353940;22017877;22017875;22017876;17318178;19955572;20558726;20797629;21173164;21249194;21402774;21900206;21946088;21987572;22022389;16344560;21139048;23453757;23455922;23530064;23532963;23563313;23583392;23607312;23737552;17463251;17939994;18662541;21572392;21988832;22078877;22682247;22939624;23440515;22045853;12417018;12684064;14706645;14752276;15743413;16278670;16778892;17079684;17215248;17676996;19159283;19477924;19647520;20348946;20531388;20638939;20858893;21910689;22388891;22586265;22669845;22692215;22087322;15845771;22514278;10023660;14674748;17283138;22034227;22711876;22730322;11027288;16275325;16338364;17213322;18575781;18794143;18851830;19053519;21145461;21189257;22090097;22350919;22912335;12504025;21466614;22851693;11953428;17586316;17937819;18363964;18541215;18672082;19244337;19730691;19944437;20201792;20980512;22190034;22975506;23027877;23056346 8945 B2R8L3;B7Z3H4;Q5T1W7;Q68DS0;Q9Y297 AA824369;ABBA01063193;ABBA01063194;ABBA01063195;ABBA01063196;ABBA01063197;ABBA01063198;ABBA01063199;AF101784;AF129530;AK295870;AK313353;AK313417;AK314880;AL133387;AL445463;AL627424;AL707686;AL833133;AMYH01003005;AMYH01003006;AMYH01003007;AMYH01003008;AY207475;AY207476;BC006204;BC027994;BC063673;BM680713;BQ188694;BX389753;CH471066;CR749295;DA218668;GU727631;NG_009234;NM_001256856;NM_003939;NM_033637;Y14153 AAD08702;AAF04464;AAH27994;AAO59171;AAO59172;ADU87633;ADZ15431;BAG36155;BAG36210;BAG37395;BAH12210;CAA74572;CAH18150;EAW49770;EAW49771;EAW49772;EAW49773;EAW49774;NP_001243785;NP_003930;NP_378663;Q9Y297 Hs.643802 1732689;2106965;2114541;2127482;2151481;2177433 BTRC_7931;D10S1167;D10S1239;D10S1240;WI-16946;WIAF-1661 BETA-TRCP;FBW1A;FBXW1;FBXW1A;FWD1;MGC4643;bTrCP;bTrCP1;betaTrCP E3RSIkappaB;F-box and WD repeats protein beta-TrCP;F-box and WD-repeat protein 1B;F-box/WD repeat-containing protein 1A;OTTHUMP00000020314;OTTHUMP00000020315;beta-TrCP1;epididymis tissue protein Li 2a;pIkappaBalpha-E3 receptor subunit APPROVED protein-coding ENSG00000166167 1144 04596 603482 REVIEWED 1315390 BUB3 BUB3 mitotic checkpoint protein This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 10 10 q26 124903860 124914871 + 124913760 124924886 + 1580863;6480464;6907045 11283619;11285280;9660858;14593737;11535616;11742988;18029348;19182530;18199686;17289665;17268814;15796961;15635413;15489334;15388328;15342556;15302935;12762840;12477932;12242018;12217960;12011073;11129339;10828586;10366450;11352911;12419313;15525512;11702782;21145461;22000412;10198256;19615732;20734064;16055720;22863883;21937719;17332742;21110914;21926987;18781797;21987572;22193957;21139048;21890473;21906983;21907836;21963094;19322201;21628590;22939629;16760428;21525009;22100920;12549820;18729074;21853274;22053931;22505724 9184 B4DDM6;J3QSX4;J3QT28;O43684 ABBA01062836;AC012391;AF047472;AF047473;AF053304;AF081496;AK293255;AK307958;AK312546;AMYH01003146;BC005138;BC022438;BM989334;BP328027;BU932619;BX647392;CH471066;NM_001007793;NM_004725 AAC06258;AAC28438;AAC28439;AAC36307;AAH05138;AAH22438;ABM82778;ABM85968;BAG35444;BAG56787;EAW49284;EAW49285;EAW49286;EAW49287;NP_001007794;NP_004716;O43684 Hs.418533 2138716;2150048;5017467 RH78800;SHGC-64047;UniSTS:502432 BUB3L;hBUB3 BUB3 budding uninhibited by benzimidazoles 3 homolog;OTTHUMP00000020679;OTTHUMP00000020680;OTTHUMP00000020682;budding uninhibited by benomyl;budding uninhibited by benzimidazoles 3 homolog;mitotic checkpoint component;mitotic checkpoint protein BUB3 APPROVED protein-coding ENSG00000154473 1151 04761 603719 REVIEWED 2301778 BZW1P1 basic leucine zipper and W2 domains 1 pseudogene 1 3 3 3 q26.31 170540576 170543554 - 173625780 173627571 - 172141985 172144968 - 391592 ABBA01058652;ABBA01058653;AC069523;AMYH01013652;NG_008827 1689077 RH65648 pseudo 31378 INFERRED 1604400 BUD31 BUD31 homolog (S. cerevisiae) 7 7 7 q22.1 93740801 93751440 + 98844548 98855175 + 99006601 99017239 + 6480464;6907045 7841202;15489334;12853948;12690205;12477932;21832049;22939629;21628590;21139048;21906983;22944692 8896 C9JCD9;C9JNV2;F8WCN7;P41223 AACC02000084;ABBA01013263;AC004922;AK297784;AK316477;AMYH01017721;BC022821;BC104670;CH236956;CH471091;CR456951;NM_003910;S77329;U11861 AAA20008;AAB33291;AAH22821;AAI04671;BAH12665;BAH14848;CAG33232;EAL23881;EAW76670;EAW76671;EAW76672;EAW76673;NP_003901;P41223 Hs.380233 1693582 SHGC-58489 Cwc14;EDG-2;EDG2;G10;MGC111202;YCR063W;fSAP17 G10 maternal transcript homolog;OTTHUMP00000206247;OTTHUMP00000206248;OTTHUMP00000206249;OTTHUMP00000206250;functional spliceosome-associated protein 17;maternal G10 transcript;protein BUD31 homolog;protein EDG-2;protein G10 homolog protein-coding ENSG00000106245 29629 10351 603477 VALIDATED 2298828 BZW1P2 basic leucine zipper and W2 domains 1 pseudogene 2 3 3 3 q13.31 114771072 114773381 - 117845406 117859656 - 116363085 116365571 - 16641997 151579 ABBA01061611;AC108687;AMYH01013409;NG_022890 1673874;1676342;1685742;1728871 G15932;G54452;RH25246;RH67925 BZW1L1 APPROVED pseudo 33954 INFERRED 1344210 BVES blood vessel epicardial substance This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010] 6 6 6 q21 106167189 106206693 - 105651390 105691236 - 105544697 105585049 - 1302855;1580863;6480464 10882522 10441744;18391951;18349282;15489334;12477932;22354168;20546612;16188940;19448622;17207965;20627872;21069264;21283798;21911938;22109561 11149 Q8NE79 ABBA01014399;ABBA01014400;AF204172;AK289979;AL356775;AMYH01016559;BC034425;BC040502;CH471051;NM_001199563;NM_007073;NM_147147;Z95329 AAG23405;AAH34425;AAH40502;ADQ32332;BAF82668;EAW48430;EAW48431;EAW48432;NP_001186492;NP_009004;NP_671488;Q8NE79 Hs.221660 1650344;2150474;5015881;5016781;5022651;5037552 AFMA125XC1;D11S2921;D6S1121E;D8S2279;GDB:335751;SHGC-67307 HBVES;MGC42413;POP1;POPDC1 OTTHUMP00000016910;OTTHUMP00000016911;OTTHUMP00000242208;blood vessel epicardial substance;popeye domain containing 1;popeye domain-containing protein 1;popeye protein 1 APPROVED protein-coding ENSG00000112276 1152 06842 604577 REVIEWED 1353488 C10orf102 chromosome 10 open reading frame 102 q22.2 414244 AC022400 RP11-574K11.12 chromosome 10 open reading frame 102 protein-coding 31431 6770613 BZRAP1-AS1 BZRAP1 antisense RNA 1 17 56402811 56431088 + 12477932;14702039 100506779 ABBA01041333;ABBA01041334;AC004687;AI056234;AK000271;AK090885;AK311208;AK311306;AK311311;AMYH01008512;AV732878;BC032475;BC050403;BC064565;BI820069;NR_038410;NR_038411;NR_038412;NR_038413;NR_038414;NR_038415;NR_038416;NR_038417;NR_038418 Hs.718477 1661589;1665695;1672042;1682421;1693448;1767703;1777933;2176709;2187152 D17S1419E;G42387;RH35987;RH45569;RH68148;RH70634;RH93017;STS-H72889;WI-11652 APPROVED miscrna ENSG00000265148 44148 VALIDATED 1353258 C10orf106 chromosome 10 open reading frame 106 414246 31433 1346920 BZRAP1 benzodiazapine receptor (peripheral) associated protein 1 17 17 17 q22-q23 52840368 52867932 - 53733591 53760477 - 56378588 56406152 - 1302420;1580863;6480464 9915832 17855024;22745667;15489334;12477932;9734811;19557195;10737800;21078624 9256 A7E2C5;B2RUT8;B7ZVZ7;J3KSY4;J3KT64;O95153 AB014512;ABBA01041332;ABBA01041333;AC004687;AF039571;AI811889;AMYH01008512;BC031401;BC146852;BC150279;BC171787;BE246483;BF934025;BX648763;CH471109;NM_001261835;NM_004758;NM_024418 AAD11957;AAH31401;AAI46853;AAI50280;AAI71787;BAA31587;EAW94468;EAW94469;NP_001248764;NP_004749;NP_077729;O95153 Hs.112499 2107903 BZRAP1_8916 DKFZp686F02123;KIAA0612;PBR-IP;PRAX-1;PRAX1;RIM-BP1;RIMBP1 PBR-IP;RIMS-binding protein 1;peripheral benzodiazepine receptor-associated protein 1;peripheral benzodiazepine receptor-interacting protein;peripheral-type benzodiazepine receptor-associated protein 1 protein-coding ENSG00000005379 16831 09832 610764 VALIDATED 1315529 C10orf107 chromosome 10 open reading frame 107 10 10 10 q21.2 56689752 56792965 + 63092725 63196107 + 63422719 63526091 + 737633;6480464 12477932 19430483;15489334;20542020;16385451;20379614;17207965;20852445;21045733;21909110;23006423;23251661 219621 H0Y3I3;Q8IVU9 ABBA01019478;ABBA01019479;ABBA01019480;AC022398;AL451049;AMYH01002771;BC041932;CH471083;NM_173554 AAH41932;ADQ32480;EAW54221;EAW54222;EAW54223;EAW54224;NP_775825;Q8IVU9 Hs.673160 1339863;1704054;1708580;1753863 D10S1640;SHGC-108039;SHGC-77852;SHGC-85079 MGC44593;bA63A2.1 OTTHUMP00000019665;hypothetical protein LOC219621;uncharacterized protein C10orf107 protein-coding 28678 12559 VALIDATED 1346064 C10orf105 chromosome 10 open reading frame 105 10 10 10 q22.1 66753897 66780020 - 73141464 73169435 - 73471458 73497581 - 12477932 414152 B1AVV1;Q8TEF2 ABBA01020374;AK074172;AK123442;AL731541;AMYH01002817;BC071608;BF508486;CH471083;NG_008835;NM_001164375;NM_001168390 BAB84998;EAW54433;NP_001157847;NP_001161862;Q8TEF2 Hs.568788 2138594 STS-N39237 FLJ00245 hypothetical protein LOC414152;uncharacterized protein C10orf105 protein-coding ENSG00000214688 20304 VALIDATED 1321229 C10orf11 chromosome 10 open reading frame 11 10 10 10 q22.3 70831521 71605978 + 77212525 77987136 + 77542519 78317130 + 6480464 16964243;14702039;16385451;19844253;20379614;21946350;22180457;23284291;23395477 83938 A6NG64;M0R2H0;Q9H2I8 ABBA01020246;ABBA01020247;ABBA01020248;AC012047;AC012048;AC013286;AC024603;AF267860;AK125328;AL136451;AL607027;AL731568;AMYH01002842;AMYH01002843;CH471083;NM_032024 AAG44729;EAW54585;EAW54586;EAW54587;NP_114413;Q9H2I8 Hs.118161 1335229;1338564;1338924;1645454;1650409;1657303;1664547;1677486;1679896;1701346;1706520;1710770;1718079;1722947;1724857;1724949;1725049;1752621;1757567;1760661;1768185;1774726;1790293;1851620;2113942;2126289;2138147;2145760;2146460;2154070;2155460;7183685;7186028;7186529;7186845 AB056408;AFM206YG1;D10S1699;D10S195;D10S2266;D10S580;D3S3970;G17476;G18060;G28019;G60571;KS701;RH104303;RH118820;RH119191;RH119242;RH122658;RH17561;RH44932;RH65118;RH65409;RH70106;RH80991;RH91322;SGC34457;SHGC-106442;SHGC-144206;SHGC-145029;SHGC-81232;SHGC-84049;STS-N25920 CDA017;OCA5 OTTHUMP00000019889;OTTHUMP00000019890;leucine-rich repeat-containing protein C10orf11 protein-coding ENSG00000148655 23405 12560 614537;615179 PROVISIONAL 1343828 C10orf111 chromosome 10 open reading frame 111 10 10 10 p13 15066016 15067950 - 15177390 15179324 - 15137384 15139318 - 737633 12477932 15489334;15164054 221060 Q8N326 ABBA01034599;AK314131;AL590365;AMYH01002055;BC029034;BC036401;NM_153244 AAH29034;ADZ15789;BAG36821;NP_694976;Q8N326 Hs.567777 5037552 D8S2279 MGC35468;bA455B2.4 OTTHUMP00000019199;hypothetical protein LOC221060;uncharacterized protein C10orf111 protein-coding ENSG00000176236 28582 16572 PREDICTED 1346421 C10orf112 chromosome 10 open reading frame 112 10 10 10 p12.31 19077832 19709527 + 19585919 19820636 + 19605329 20023407 + 19103277;16344560;11329013;19591129;20379614;23747249 340895 B7ZBP3;B7ZBR1;E7EPJ0;H0Y3D6;Q5VYJ5 ABBA01034519;ABBA01034520;ABBA01034521;ABBA01034522;ABBA01034523;AK297683;AL391992;BG192521;DB087413;KC843478;XM_003403619 AGN95661;BAG60043;Q5VYJ5;XP_003403667 Hs.646734 1298189;1335560;1338165;1342292;1650439;1668992;1669486;1680254;1703274;1704480;1728295;1728415;1754203;1755441;1755565;1756727;1764395;2167652;2174430;2179653;5015947;5105665 D10S1125;D10S1423;D10S1574;D10S2336;D10S2474;D10S466;D10S518;ECD22897;G10494;G15902;G17464;G63429;G63642;RH92837;SHGC-132236;SHGC-142269;SHGC-142311;SHGC-142420;SHGC-143838;SHGC-147985;SHGC-68251;SHGC-82987 DIET1;FLJ60310;bA265G8.2 MAM and LDL-receptor class A domain-containing protein C10orf112;MAM and LDL-receptor class A domain-containing protein C10orf112-like;OTTHUMP00000209453;novel MAM domain containing protein protein-coding 24331 MODEL 1352999 BYSL bystin-like Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. [provided by RefSeq, Jul 2008] 6 6 p21.1 41996943 42008762 + 41888965 41900784 + 1580863;2316201;6480464 15305856 9560222;17917702;17381424;17081983;15489334;14633596;12477932;10026108;9925933;16189514;18029348;21048031;16713569;19820697;19862010;20805244;23184937;21832049;22939629;22863883;22586326;21139048;21693764;21890473;21906983;19471022;21145461;19738201;21963094;23263863;17360433;22505724;22797925 705 F8WBL2;H7BY94;Q13895 ABBA01050744;ABBA01050745;AK314147;AL160163;AMYH01016298;BC007340;BC050645;BC062627;CH471081;L36720;NM_004053 AAC16603;AAH07340;AAH50645;AAH62627;ABM83840;ABM87162;EAX04069;NP_004044;Q13895 Hs.106880 1795452;2183548 BYSL_1485;RH15844 BYSTIN OTTHUMP00000016385;by the ribosomal protein s6 gene, drosophila, homolog-like;bystin APPROVED protein-coding ENSG00000112578 1157 04848 603871 REVIEWED 1351499 C10orf115 chromosome 10 open reading frame 115 10 10 p12.2 23532751 23568721 - 23492745 23512728 - 15164054;8889548 387642 Q5QP74 BM976076;CH471072;NR_103721;XR_040091;XR_040092 EAW86130;Q5QP74 1731357 D10S410 bA215C7.4 miscrna 31449 PREDICTED 1347888 BZW1 basic leucine zipper and W2 domains 1 2 2 2 q33 195431568 195443290 + 201384892 201396805 + 201676269 201688569 + 1302740;6480464 11524015 17353931;10942595;17081983;16964243;21319273;15815621;15489334;14702039;12477932;10964520;8125298;7584028;7584026;11101529;19446954;22863883;22939629;21734401;18781797;21139048;21890473;21906983;18654987;22505724 9689 C9IZ80;C9J188;C9JFN4;C9JV57;C9JWF5;H0Y503;Q3LIC9;Q7L1Q6 AA868237;AB074176;ABBA01062521;AC007163;AK096489;AK223245;AK297227;AK301511;AL833518;AMYH01011400;BC001804;BC026303;CB055242;CH471063;D13630;DC386317;DC409063;NM_001207067;NM_001207068;NM_001207069;NM_014670;Z70221 AAH01804;AAH26303;AAX93286;ABM84154;ABM87556;BAA02795;BAD96965;BAE45739;BAG53303;BAG59710;BAG63019;CAA94180;EAW70212;EAW70213;NP_001193996;NP_001193997;NP_001193998;NP_055485;Q7L1Q6 Hs.355983;Hs.736074 1673874;1676342;1685742;1689077;1693748;1728871;5125439 G15932;G54452;RH25246;RH65648;RH67925;SHGC-58821;SHGC-77255 BZAP45;KIAA0005;Nbla10236 OTTHUMP00000206080;OTTHUMP00000206082;OTTHUMP00000206083;OTTHUMP00000206084;OTTHUMP00000206086;basic leucine zipper and W2 domain-containing protein 1;basic leucine-zipper protein BZAP45;protein Orf;putative protein product of Nbla10236 protein-coding ENSG00000082153 18380 16570 VALIDATED 1352536 C10orf10 chromosome 10 open reading frame 10 The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. [provided by RefSeq, Jul 2008] 10 10 10 q11.21 41474883 41477504 - 44791715 44794336 - 45471709 45474330 - 6480464 11256614;16713569;16381901;16344560;16189514;16123073;15977181;15489336;15489334;15164054;14702039;12477932;11230166;11076863;19937567;16385451;20822508;20877624;21510935 11067 Q9NTK1 AB022718;AB025244;ABBA01050023;AK002191;AK098476;AK300839;AK312496;AL136653;AL353801;AMYH01002298;BC011402;CH471160;DB030770;NM_007021 AAH11402;ABM82987;ABM86180;BAA74504;BAC87794;BAG35398;BAG51027;BAG62490;CAB66588;CAL38369;EAW86629;NP_008952;Q9NTK1 Hs.93675 1736028;2119900 A002O19;D10S1304E DEPP;FIG OTTHUMP00000019496;OTTHUMP00000019497;decidual protein induced by progesterone;fasting induced;fasting-induced gene protein;fasting-induced protein;protein DEPP APPROVED protein-coding ENSG00000165507 23355 12558 611309 REVIEWED 1606384 C10orf113 chromosome 10 open reading frame 113 10 10 10 p12.31 21101350 21122146 - 21454698 21475433 - 21414692 21435488 - 15164054;12477932;23535730 387638 Q5VZT2 ABBA01034505;AI806552;AL158160;AMYH01002168;BC140744;BC144447;NG_017092;NM_001010896;NM_001177483 AAI40745;NP_001010896;NP_001170954;Q5VZT2 Hs.664110 5113034 RH66460 bA165O3.1 OTTHUMP00000019267;OTTHUMP00000235929;putative uncharacterized protein C10orf113 protein-coding ENSG00000204683 31447 16573 VALIDATED 1345714 C10orf124 chromosome 10 open reading frame 124 q26.3 440012 AL691429 CAI17262 bB137A17.2 protein-coding 31655 1343385 C10orf123 chromosome 10 open reading frame 123 q26.3 414258 AL392043;AL691429 CAI39951 bA288G11.5 protein-coding 31654 731291 BZW2 basic leucine zipper and W2 domains 2 7 7 7 p21.1 16665515 16725894 + 16652284 16712672 + 16685759 16746148 + 6480464 17353931;17081983;15635413;15489334;14702039;12853948;12690205;12477932;11042152;19322201;19913121;20628086;20379614;19454010;22863883;23383273;21745818;21900206;18781797;21139048;21890473;21906983;19738201;21963094;22053931;23000965;23535033 28969 B5MCE7;B5MCH7;C9JF98;E7EMS9;E7ETZ4;E9PFD4;F8WDX8;Q75MG1;Q9Y6E2 AACC02000008;ABBA01056632;ABBA01056633;ABBA01056634;AC073201;AC073333;AF083246;AF110323;AK001218;AK001260;AK027837;AK297496;AK300655;AMYH01017092;BC001570;BC003056;BC008453;BC009597;BC017794;BC051898;BC107757;CH236948;CH471073;NM_001159767;NM_014038;NR_027624 AAD39844;AAG39278;AAH03056;AAH08453;AAH09597;AAH17794;AAI07758;AAS07544;ABM83422;ABM86634;BAA91562;BAB55401;BAG50880;BAH12594;BAH13321;EAL24285;EAW93675;EAW93676;EAW93677;EAW93678;EAW93679;NP_001153239;NP_054757;Q9Y6E2 Hs.487635 1670628;2110287;2123838;2153596;2176495 BZW2_9566;D7S1766;GDB:1318220;RH36275;SHGC-55976 HSPC028;MST017;MSTP017 OTTHUMP00000161321;OTTHUMP00000201712;OTTHUMP00000201748;OTTHUMP00000201749;basic leucine zipper and W2 domain-containing protein 2;hfb2 protein protein-coding ENSG00000136261 18808 16571 VALIDATED 1346015 C10orf131 chromosome 10 open reading frame 131 10 10 10 q24.1 91408931 91439619 + 97657712 97688040 + 97667722 97698415 + 15164054 100127889 A6NCD4;R4GN90 ABBA01021833;AK294399;AL365273;AL513355;AMYH01002968;NM_001130446 A6NCD4;BAG57652;NP_001123918 Hs.719076 2170211 SHGC-30780 FLJ10895;bA690P14.3 hypothetical protein LOC100127889;uncharacterized protein C10orf131 protein-coding ENSG00000173088 31667 PREDICTED 1344407 C10orf128 chromosome 10 open reading frame 128 10 10 10 q11.23 43949478 43982598 - 50033896 50066413 - 50363890 50396407 - 737633;6480464 12477932 170371 G3V182;Q5T290;Q5T292 ABBA01041074;ABBA01041075;AC084727;AL441885;AL832399;AMYH01002642;BC031641;BC037922;BC042857;BC047724;BC104438;BC104439;CH471187;DQ884399;NM_001010863 ABI63366;EAW93107;EAW93108;EAW93110;NP_001010863;Q5T292 Hs.385493 1689430;1709444;1765471;2147366 RH93539;SHGC-148957;SHGC-81764;STS-AA041552 OTTHUMP00000019573;OTTHUMP00000019574;OTTHUMP00000019575;putative uncharacterized protein C10orf128 protein-coding 27274 PREDICTED 1354019 C10orf133 chromosome 10 open reading frame 133 414267 31669 1352264 C10orf138 chromosome 10 open reading frame 138 414234 30374 1351198 C10orf14 chromosome 10 open reading frame 14 15164054 414171 23430 1316183 C10orf118 chromosome 10 open reading frame 118 10 10 10 q25.3 109611151 109663535 - 115871964 115924354 - 115881974 115934364 - 737633;1299549;6480464 12477932;12783626 14996095;16381901;15489336;15489334;14702039;11230166;11076863;20936779;21900206;21139048;21906983 55088 F6VCB7;H0Y7V5;Q9NWA3 ABBA01062982;AC022023;AF273054;AI143965;AK001050;AK024739;AK057508;AK092620;AK094498;AK307517;AL834368;AMYH01003086;BC020842;BC022229;BC030557;BC070368;BC100670;BC103499;BC103504;BC105632;BC107430;BC152306;BK001329;BX537964;BX643041;NM_018017 AAH20842;AAH22229;AAH70368;AAI00671;AAI03500;AAI05633;AAI07431;AAI52307;AAM44457;BAA91480;BAC03926;BAG51924;CAD39031;CAD97928;CAL37501;DAA01463;NP_060487;Q7Z3E2 Hs.159066;Hs.603328 FLJ10188;FLJ35301;MGC118918;MGC129699 CTCL tumor antigen HD-CL-01/L14-2;CTCL tumor antigen L14-2;OTTHUMP00000020520;OTTHUMP00000020523;uncharacterized protein C10orf118 protein-coding 24349 16576 VALIDATED 1349358 C10orf31 chromosome 10 open reading frame 31 10 11398298 11401853 - 414196 Q8N7Q2 AK097813 23515 1344514 C10orf129 chromosome 10 open reading frame 129 10 10 10 q23.33 90695101 90729842 + 96943947 96976152 + 96953957 96988686 + 12477932;16385451 142827 H7BXS6;H7BYZ2;Q6P461 ABBA01021840;AK126134;AL157834;AMYH01002967;BC063654;BC104210;BC104211;BC112988;BC148184;CH471066;NM_207321 AAH63654;AAI04211;AAI04212;AAI12989;BAC86458;EAW50014;NP_997204;Q6P461 Hs.134229 1721313;1747837;5094310 G54703;G59656;G65756 ACSM6;bA310E22.3 AMP-binding enzyme;OTTHUMP00000020136;acyl-coenzyme A synthetase ACSM6, mitochondrial protein-coding ENSG00000173124 31665 12565 VALIDATED 1323299 C10orf12 chromosome 10 open reading frame 12 10 10 10 q24.1 92482640 92487184 + 98731031 98735575 + 98741041 98745585 + 6480464 16189514;15489334;15164054;14702039;12477932;21890473 26148 Q8N655 ABBA01021819;AK023084;AK025166;AK126886;AL049938;AL442123;AMYH01002976;BC024315;BC031482;NM_015652 AAH24315;AAH31482;BAB14396;CAB43214;NP_056467;Q8N655 Hs.14555;Hs.427927 2134778 D10S2419 DKFZp564P1916;FLJ13022 OTTHUMP00000020178;hypothetical protein LOC26148;uncharacterized protein C10orf12 protein-coding ENSG00000155640 23420 12563 PROVISIONAL 1604915 C10orf120 chromosome 10 open reading frame 120 10 10 10 q26.13 118163641 118165754 - 124447215 124449328 - 124457225 124459338 - 15489334;15164054;12477932 399814 H0Y758;Q5SQS8 ABBA01062840;AL704711;AL731543;AMYH01003142;BC065903;BC140922;CH471066;NM_001010912 AAI40923;EAW49307;NP_001010912;Q5SQS8 Hs.363649;Hs.682151 bA318C4.1 OTTHUMP00000020665;OTTHUMP00000020666;hypothetical protein LOC399814;uncharacterized protein C10orf120 protein-coding ENSG00000183559 25707 16577 PREDICTED 1347042 C10orf40 chromosome 10 open reading frame 40 10 10 10 q21.2 54983535 54986224 - 61387982 61389733 - 61717975 61720671 - 737633 12477932 283025 A4QN01 ABBA01019457;AC023904;AMYH01002767;BC038741;BC048976;BC119749;BC119750;NR_024340 A4QN01 Hs.522955 1677782;5493701 RH98450;UniSTS:490443 miscrna ENSG00000235931 23524 VALIDATED 1350474 C10orf43 chromosome 10 open reading frame 43 414155 AL603965 FLJ32754;bA145E20.5 chromosome 10 open reading frame 43 protein-coding 21291 1322314 C10orf137 chromosome 10 open reading frame 137 This gene may play a role in erythroid cell differentiation. The encoded protein inhibits DNA binding of the erythroid transcription factor GATA-1 and may regulate the expression of alpha-globin. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 10 10 10 q26.13 121183516 121228144 + 127398074 127442702 + 127408084 127452712 + 737633;6480464 12477932 15489334;14702039;12609092;21145461;18763094;20379614;18726394;18759052;21900206;21139048;21890473;21906983 26098 E9PJ07;H0Y353;H0YCQ0;H0YCS2;Q3B7T1 ABBA01034169;AF040247;AK025270;AK091507;AK314958;AL050102;AL158835;AMYH01003163;BC016903;BC026172;BC028715;BC029650;BC105929;BC107479;BC107896;CH471066;NM_001202438;NM_015608 AAC00001;AAH26172;AAI05930;AAI07480;BAB15100;BAG37462;CAB43273;EAW49231;EAW49232;EAW49233;EAW49234;EAW49235;EAW49236;NP_001189367;NP_056423;Q3B7T1 Hs.468688 1672310;1672821;1735942;2148064;2148066;2161410 A006E36;D10S2169;D9S1070E;G20749;RH46482;SHGC-58128 EDRF1;MGC125705;RP11-383C5.6 OTTHUMP00000020703;OTTHUMP00000020707;OTTHUMP00000232252;OTTHUMP00000232253;erythroid differentiation-related factor 1 APPROVED protein-coding ENSG00000107938 24640 10694 REVIEWED 7245990 C10orf126 chromosome 10 open reading frame 126 11181995;12477932;15489334 283080 Q8N4M7 ABBA01034371;AL390248;AMYH01002214;BC033839;CH471072;NM_001278522;XR_158861;XR_159192;XR_171845 ABM82201;ABM85389;EAW86026;NP_001265451;Q8N4M7 Hs.591370 bA492M23.1 putative uncharacterized protein C10orf126 protein-coding ENSG00000204365 28693 INFERRED 1348451 C10orf25 chromosome 10 open reading frame 25 10 10 10 q11.21 41496320 41499644 - 44813152 44816342 - 45493146 45496470 - 15164054;14702039;12477932;16344560;16385451 220979 Q5T742 ABBA01050024;AK055129;AK311351;AL353801;AMYH01002298;BC062568;BC130369;BC130395;CH471160;DA772947;DR005042;NM_001039380 AAI30370;AAI30396;ADR82803;BAB70858;EAW86630;EAW86631;NP_001034469;Q5T742 Hs.707791 FLJ18393;FLJ30567 OTTHUMP00000019499;hypothetical protein LOC220979;uncharacterized protein C10orf25 protein-coding ENSG00000165511 23509 VALIDATED 1313704 C10orf35 chromosome 10 open reading frame 35 10 10 10 q22.1 64666901 64670261 + 71060009 71063361 + 71390003 71393355 + 737633;6480464 12477932 16344560;15489334;15164054;11591653;16385451;20379614;17207965;21139048 219738 Q5VVH9;Q96D05 ABBA01019610;AL450311;AMYH01002807;BC013587;BF510821;CH471083;CK903062;DB339258;DB465414;NM_145306 AAH13587;ADQ33141;EAW54330;EAW54332;NP_660349;Q96D05 Hs.522992 1644489 WI-12709 OTTHUMP00000019727;hypothetical protein LOC219738;uncharacterized protein C10orf35 protein-coding ENSG00000171224 23519 12573 VALIDATED 1345709 C10orf53 chromosome 10 open reading frame 53 10 10 10 q11.23 44473742 44502988 + 50557690 50586962 + 50887684 50916956 + 737633 12477932 16344560;15489334;14702039;20379614 282966 Q8N6V4 ABBA01041070;AC069546;AC073366;AK091773;AMYH01002642;AW182169;BC028127;BX102324;CH471187;DB043416;NM_001042427;NM_182554 AAH28127;EAW93083;EAW93084;EAW93085;NP_001035892;NP_872360;Q8N6V4 Hs.131287 FLJ60598 OTTHUMP00000019586;OTTHUMP00000019587;UPF0728 protein C10orf53;hypothetical protein LOC282966 protein-coding 27421 12579 VALIDATED 1348188 C10orf64 chromosome 10 open reading frame 64 10 q11.22 49562927 49614293 + 737633 12477932 18519826;15489334;14702039 159491 AC035139;AC068898;AK093607;AK127650;BC034937;XM_001124973;XM_001124974;XM_001719015 AAH34937;BAC04204;BAC87073;Q6ZS81;Q8N222;XP_001124973;XP_001124974;XP_001719067 Hs.287379 FLJ36288;FLJ45748;MGC40604 protein-coding 27253 12555 1323417 C10orf32 chromosome 10 open reading frame 32 10 10 10 q24.32 98354550 98365297 + 104604009 104613960 + 104613967 104624718 + 6480464 16344560;15489334;15164054;14702039;12477932;7566098;19915575;21139048 119032 Q96B45 AA299084;ABBA01063132;AI147530;AK098071;AK311742;AL358790;AL832477;AMYH01003020;AW058660;BC015994;BP419064;CS300779;DA006534;NM_001136200;NM_144591 AAH15994;BAG34685;BAG53576;CAI46115;CAK32443;NP_001129672;NP_653192;Q96B45 Hs.34492 1690906;2148367;2177243;5015619;5015961;5022200 D10S1565;D11S3114;D15S1477;L18426;RH93016;SHGC-36540 DKFZp686B2219;FLJ40752;MGC27171;RP11-753C18.6 OTTHUMP00000020385;OTTHUMP00000020386;OTTHUMP00000211190;UPF0693 protein C10orf32;hypothetical protein LOC119032 protein-coding ENSG00000166275 23516 12571 VALIDATED 7206953 C10orf71-AS1 C10orf71 antisense RNA 1 10 50504157 50506938 - 100506769 ABBA01041072;AC027674;AMYH01002642;XR_110401;XR_132934;XR_171855 Hs.562293 1675049;2144831 RH41964;SHGC-58001 miscrna ENSG00000236208 45007 MODEL 1350054 C10orf67 chromosome 10 open reading frame 67 10 10 10 p12.2 23293123 23322454 - 23645526 23673778 - 23605520 23633772 - 737633;6480464 12477932 18723019;15489334;15164054 256815 Q5SXQ8;Q8IYJ2 ABBA01034466;ABBA01034467;ABBA01034468;AL592296;AL606469;AMYH01002187;AMYH01002188;BC035732;CH471072;NM_153714 AAH35732;EAW86129;EAW86131;EAW86132;NP_714925;Q8IYJ2 Hs.522360 1848750 G09328 MGC46732;RP11-792P23.2 OTTHUMP00000019310;hypothetical protein LOC256815;uncharacterized protein C10orf67 protein-coding ENSG00000179133 28716 12585 VALIDATED 1348811 C10orf55 chromosome 10 open reading frame 55 10 10 10 q22.2 68953043 68965862 - 75339740 75341994 - 75669727 75682535 - 15489334;15164054;14702039;12477932;21145461;19913121;20628086;23128233 414236 Q5SWW7 ABBA01020301;ABBA01020302;AI912900;AK092517;AL596247;AMYH01002833;BC049374;CH471083;NM_001001791 AAH49374;BAC03908;EAW54546;NP_001001791;Q5SWW7 Hs.585453 1677941;1741587;1793546;5108156;5491394 GDB:181547;PLAU;PMC229370P1;RH92165;SHGC-31374 bA417O11.3 OTTHUMP00000019858;hypothetical protein LOC414236;uncharacterized protein C10orf55 protein-coding ENSG00000222047 31008 16580 VALIDATED 1605963 C10orf54 chromosome 10 open reading frame 54 10 10 10 q22.1 66789752 66815911 - 73177319 73203343 - 73507313 73533337 - 6480464 16189514;15498874;15489334;15340161;15231748;15164054;14702039;12975309;12477932;17207965;20666777;21906983;22424883;22488247 64115 Q9H7M9;R4GNB4 ABBA01020373;ABBA01020374;AF193048;AF289594;AK024449;AL731541;AMYH01002817;AY265805;AY358379;BC020568;BC111048;BC127257;CH471083;EF506490;NG_008835;NM_022153 AAG22476;AAH20568;AAI11049;AAI27258;AAL55778;AAP03084;AAQ88745;ABP88253;ADQ32336;BAB15739;EAW54435;NP_071436;Q9H7M9 Hs.47382 1794772;2127052;2144039 PMC55343P6;STS-R80211;STS-W72919 B7-H5;B7H5;GI24;PP2135;SISP1 OTTHUMP00000019774;platelet receptor Gi24;stress induced secreted protein 1 protein-coding ENSG00000107738 30085 15160 VALIDATED 1351899 C10orf62 chromosome 10 open reading frame 62 10 10 10 q24.2 93086753 93087994 + 99339474 99340681 + 99349450 99350691 + 16381901;16189514;15489336;15489334;15164054;12477932;11076863;19447967;19060904 414157 Q5T681 ABBA01021800;AL355315;AMYH01002978;BC037252;BC043281;BI826342;CH471066;NG_027922;NM_001009997 AAH37252;CAL37434;CAL37673;CAL38043;CAL38061;CAL38381;CAL38664;CAL38665;CAL38667;EAW49915;NP_001009997;Q5T681 Hs.662302 1679025 RH92617 bA548K23.1 OTTHUMP00000020214;hypothetical protein LOC414157;uncharacterized protein C10orf62 protein-coding ENSG00000203942 23294 16581 VALIDATED 1346795 C10orf68 chromosome 10 open reading frame 68 10 10 10 p11.22 32621488 32937125 + 32896657 33211798 + 32856651 33171792 + 18984674;16344560;14702039;12477932;16385451;20379614 79741 A2A3D6;Q9H943 AA401575;ABBA01033378;ABBA01033379;ABBA01033380;ABBA01033381;AK023093;AK097668;AK301824;AL354750;AL355540;AL356053;AL365203;AL591850;AMYH01002223;BC125090;BC125091;CH471072;DB026046;NM_024688 AAI25091;AAI25092;BAB14400;BAC05140;BAG63270;CAC40698;EAW85962;EAW85963;NP_078964;Q9H943 Hs.585464 1669415;1700916;1724935 109YG3;RH104085;RH119234 FLJ13031;MGC149767;RP11-479G22.1;dJ1104A8.1 OTTHUMP00000195173;OTTHUMP00000195174;OTTHUMP00000197723;chromosome 10 open reading frame 68;uncharacterized protein C10orf68 protein-coding ENSG00000150076 25779 10698 VALIDATED 1353451 C10orf71 chromosome 10 open reading frame 71 10 10 10 q11.23 44093353 44121712 + 50177193 50205538 + 50507187 50535537 + 6480464 15164054;14702039;12477932;23362303 118461 Q711Q0;Q9BQV1 ABBA01041072;AC027674;AJ237663;AJ311357;AJ311358;AK056949;AK127811;AL833265;AMYH01002642;BC126413;NM_001135196;NM_199459 AAI26414;ADR83248;BAB71321;BAG54576;CAC33852;CAC85340;CAC85341;NP_001128668;NP_955629;Q711Q0 Hs.585480 1736008 D10S1293E FLJ45913 OTTHUMP00000019577;hypothetical protein LOC118461;uncharacterized protein C10orf71 protein-coding ENSG00000177354 26973 10699 VALIDATED 1352905 C10orf82 chromosome 10 open reading frame 82 10 10 10 q25.3 112152637 112158902 - 118413197 118419471 - 118423207 118429481 - 737633;6480464 12477932 16189514;15489334;14702039;17207965 143379 K7EKP3;Q8WW14 ABBA01062954;AC016825;AK097587;AMYH01003095;BC021737;BX537582;CH471066;HC006798;NM_144661 AAH21737;ADQ32801;BAG53491;CBH19205;EAW49444;EAW49445;EAW49446;NP_653262;Q8WW14 Hs.121347 1681819;1848617;2126524;2173809;5015619;5024039;5037552;5092776 A006D08;D11S3114;D16S325;D8S2279;G32323;RH66653;RH94161;STS-AA026951 FLJ40268;MGC33547 OTTHUMP00000020565;hypothetical protein LOC143379;uncharacterized protein C10orf82 protein-coding ENSG00000165863 28500 12592 PREDICTED 1313900 C10orf76 chromosome 10 open reading frame 76 10 10 10 q24.32 97344794 97556879 - 103595346 103805922 - 103605356 103815932 - 6480464 16344560;14702039;12477932;10737800;16385451;21139048;21906983 79591 B3KUU6;Q5T2E6;Q5T2E7;Q5T2E8 ABBA01063176;ABBA01063177;ABBA01063178;ABBA01063179;ABBA01063180;ABBA01063181;ABBA01063182;ABBA01063183;ABBA01063184;ABBA01063185;ABBA01063186;AC010789;AK023176;AK097972;AK308479;AL391827;AL592069;AMYH01003011;AMYH01003012;AMYH01003013;AW936405;BC032118;BC054882;BC110511;CH471066;DA020448;DA311439;DR002231;DT932690;NM_024541 AAH54882;BAB14447;BAG53558;EAW49727;EAW49728;EAW49729;NP_078817;Q5T2E6 Hs.16004 1666086;1721349;1760821;1846682;1854804;2145754;2152586;2156302;2160774;2176617;2182834;2182836;5037552 A006D27;Bda26a02;D10S2382;D8S2279;G20725;G59674;RH45203;RH46560;SHGC-144456;SHGC-30899;STS-N73831;WI-16761;WI-20224 FLJ13114;MGC125927;RP11-190J1.9 OTTHUMP00000020353;UPF0668 protein C10orf76;hypothetical protein LOC79591 protein-coding ENSG00000120029 25788 12588 VALIDATED 1354177 C10orf91 chromosome 10 open reading frame 91 10 10 10 q26.3 127930059 127933170 + 134108704 134111815 + 134258714 134261825 + 737633;6480464 12477932 15489334;15164054;17207965 170393 Q5T1B1 ABBA01006184;AL451069;AMYH01003209;BC030794;BE909428;CH471287;NM_173541 AAH30794;ADQ32800;EAW49118;EAW49119;NP_775812;Q5T1B1 Hs.375059 RP11-432J24.4;bA432J24.4 OTTHUMP00000020771;hypothetical protein LOC170393;uncharacterized protein C10orf91 protein-coding 27275 12557 VALIDATED 1312790 C10orf88 chromosome 10 open reading frame 88 10 10 10 q26.13 118396884 118420383 - 124680409 124703909 - 124690419 124713919 - 737633;6480464 12477932 15489334;14702039;16169070;17207965;20418485;21832049;18624398;21906983 80007 Q9H8K7 ABBA01062839;AC073585;AK023552;AMYH01003143;BC021705;BC032645;BI821345;CB044034;CH471066;NM_024942 AAH32645;ADQ31756;BAB14609;EAW49297;EAW49298;NP_079218;Q9H8K7 Hs.501286 1698194 RH102633 FLJ13490 OTTHUMP00000020667;hypothetical protein LOC80007;uncharacterized protein C10orf88 protein-coding ENSG00000119965 25822 18531 VALIDATED 1352545 C10orf85 chromosome 10 open reading frame 85 10 10 q26.12 122347711 122348199 + 122357721 122359635 + 14702039;12477932;15489334 404216 Q8N1V8 ABBA01062874;AC023282;AK094721;AMYH01003125;AW013915;BC108662;NR_103717;XR_110462;XR_111110;XR_171871 AAI08663;BAC04408;Q8N1V8 Hs.196578 FLJ37402;MGC131689 miscrna ENSG00000177234 31365 18530 PREDICTED 1348306 C11orf18 chromosome 11 open reading frame 18 11528127 493900 AJ400877 19230 1342639 C10orf99 chromosome 10 open reading frame 99 10 10 10 q23.1 79928477 79940052 + 85923534 85935030 + 85933554 85945050 + 6480464 12975309;12477932 387695 Q6UWK7 ABBA01003758;ABBA01003759;ABBA01003760;ABBA01003761;AC022389;AI831407;AMYH01002890;AW351839;AY358751;BC024215;CH471142;NM_207373 AAQ89111;EAW80365;EAW80366;NP_997256;Q6UWK7 Hs.298713;Hs.499145 1686881;2042242;5023453 REN92160;RH25555;SHGC-32086 FLJ21763;UNQ1833 OTTHUMP00000019995;RLLV1833;putative uncharacterized protein C10orf99 protein-coding ENSG00000188373 31428 12599 VALIDATED 1313898 C10orf90 chromosome 10 open reading frame 90 10 10 10 q26.2 121887866 121984246 - 128103561 128200000 - 128113571 128210010 - 6480464 15489334;15164054;14702039;12477932;20154723;20843368;20844083;16196087;22040499;23319000 118611 F5GZL2;H7C3F8;Q5T024;Q5T025;Q96M02 ABBA01034179;AF435960;AK057500;AK093093;AK297577;AK308357;AK309217;AL583860;AL589787;AL705062;AMYH01003168;BC021140;BC034828;BC140898;BC146869;CH471066;NM_001004298 AAH21140;AAI40899;AAI46870;AAI56059;AAI56942;AAM20911;BAB71512;BAG59968;EAW49200;EAW49201;EAW49202;NP_001004298;Q96M02 Hs.587663 1341134;1696118;1751053;7183993 D10S214;SHGC-104964;SHGC-78951 FATS;FLJ32938;RP11-422P15.2;bA422P15.2 OTTHUMP00000020729;OTTHUMP00000020731;OTTHUMP00000020732;centrosomal protein C10orf90;fragile-site associated tumor suppressor;fragile-site associated tumor suppressor homolog;hypothetical protein LOC118611 protein-coding ENSG00000154493 26563 16587 VALIDATED 1347380 C11orf26 chromosome 11 open reading frame 26 79262 14532 1343186 C11orf29 chromosome 11 open reading frame 29 83960 15666 1349493 C10orf95 chromosome 10 open reading frame 95 10 10 10 q24.32 97950507 97952213 - 104199584 104201290 - 104209594 104211300 - 6480464 15489334;15164054;14702039;12477932 79946 Q9H7T3 ABBA01063154;ABBA01063155;AK024342;AL121928;AMYH01003018;BC126459;CH471066;NM_024886 AAI26460;BAB14892;EAW49692;NP_079162;Q9H7T3 Hs.225084 2152993;5493359 RH48442;UniSTS:485839 FLJ14280 OTTHUMP00000020369;hypothetical protein LOC79946;uncharacterized protein C10orf95 protein-coding ENSG00000120055 25880 10701 PREDICTED 1347494 C10orf93 chromosome 10 open reading frame 93 10 10 10 q26.3 128763297 128776265 + 134592681 134606054 - 134742689 134756089 - 15489334;15164054;14702039;12477932 255352 AA813184;AK098820;AL691429;BC044661;BC146900;BC146908;BX376477;CH471211;DR001134;NM_173572 AAH44661;AAI46901;AAI46909;BAC05424;CAI17263;CAI17264;EAW61310;NP_775843 Hs.375837 1782112 SHGC-155044 RP13-137A17.3;bB137A17.3 OTTHUMP00000020784;hypothetical protein LOC255352;uncharacterized protein LOC255352 protein-coding ENSG00000171811 26382 12597 VALIDATED 1343136 C11orf3 chromosome 11 open reading frame 3 q13 14702039;9615229;9286704 739 AK023941;AK093791 Hs.277517 ANG3 protein-coding 1175 1354141 C11orf21 chromosome 11 open reading frame 21 11 11 11 p15.5 2352383 2358017 - 2275661 2279719 - 2317507 2323143 - 12477932;11054561;23251661 29125 E9PAM5;Q9P2W6 AB029488;ABBA01032096;AC129929;AK290921;AK310172;AMYH01003319;AMYH01003320;BC028070;BI770361;NM_001142946;NR_024621 BAA89482;BAF83610;NP_001136418;Q9P2W6 Hs.559181 1801192;1805476;1806532;1810932;1813240;1828250;1831560;2092576;2092578;2092580;2092582;2092584;2092586;2092588;2092590;2092592;2092594;2092596;2092598;2092600;2092602;2092604;2092606;2092608;2092610;2092612;2092614;2092616;2092618;2092620;2092622;2092624;2092626;2092628;2092630;2092632;2092634;2092636;2092638;2216914;2216916;2216918;5119835 ECD01468;ECD03686;ECD04223;ECD06464;ECD07640;ECD15250;ECD16917;GDB:182522;REN117571;REN117572;REN117573;REN117574;REN117575;REN117576;REN117577;REN117578;REN117579;REN117580;REN117581;REN117582;REN117583;REN117584;REN117585;REN117586;REN117587;REN117588;REN117589;REN117590;REN117591;REN117592;REN117593;REN117594;REN117595;REN117596;REN117597;REN117598;REN117599;REN117600;REN117601;REN117602;stSG548805;stSG548806;stSG548808 OTTHUMP00000011323;OTTHUMP00000196041;hypothetical protein LOC29125;uncharacterized protein C11orf21 protein-coding 13231 611033 PREDICTED 1345294 C11orf1 chromosome 11 open reading frame 1 11 11 11 q23.1 108903165 108908015 + 111255158 111260008 + 111749948 111754798 + 6480464 10873569;15489334;14702039;12477932;16169070;17207965;18029348 64776 E9PLN1;E9PMC1;E9PS33;E9PS93;Q9H5F2 ABBA01039811;AJ250229;AK027152;AMYH01004031;AP001781;BC020628;BC036892;CH471065;CR457378;GN341810;NG_029081;NM_022761 AAH20628;ADQ32215;BAB15674;CAB96538;CAG33659;CAY39324;EAW67160;NP_073598;Q9H5F2 Hs.17546 1774060;2116699;2186627;5014057;5015861;5015961;5016478;5020740;5024756;7185938 A008P41;D10S16;D15S1477;D1S3699;GDB:434012;L17809;RH18234;RH80030;SGC33774 FLJ23499 OTTHUMP00000234273;OTTHUMP00000234274;OTTHUMP00000234275;OTTHUMP00000234276;OTTHUMP00000234277;UPF0686 protein C11orf1;hypothetical protein LOC64776 protein-coding 1163 12601 VALIDATED 1343359 C11orf34 chromosome 11 open reading frame 34 11 11 11 q23.1 109272110 109284574 - 111624732 111636793 - 112118876 112131583 - 18195351;15203209 349633 H0YDD0;Q6UQ28 ABBA01039797;ABBA01039798;ABBA01039799;ABBA01039800;AMYH01004035;AP002884;AY364431;AY364432;AY364433;AY364434;AY364435;NM_001145024 AAQ72434;AAQ72435;AAQ72436;AAQ72437;AAQ72438;NP_001138496;Q6UQ28 Hs.632097 1336030;2119260;7186250 D11S1347;SGC31351 PLET1 OTTHUMP00000235436;placenta expressed transcript 1;placenta-expressed transcript 1 protein protein-coding ENSG00000188771 30053 611904 PROVISIONAL 1354417 C11orf31 chromosome 11 open reading frame 31 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. The exact function of this gene is not known, however, selenoproteins are thought to be responsible for most biomedical effects of dietary selenium. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54865438 54867599 + 57265298 57267459 + 57508722 57510883 + 737633;6480464 12477932 19766117;17526492;17389926;17337453;15489334;12775843;21048031;20656065 280636 H0YCX8;H0YE28;Q8IZQ5 ABBA01021477;AF085883;AF536829;AJ276249;AJ276250;AMYH01003654;AP001931;BC021122;BC064570;BX493234;CH471076;NM_170746 AAH21122;AAN61472;EAW73781;EAW73782;NP_734467;Q8IZQ5 Hs.655373;Hs.744024 1725705;1739601;1777157;2123346;2164896 D11S4051E;D11S4605;G62115;RH18244;SGC30725 C17orf10;SELH OTTHUMP00000235475;OTTHUMP00000235568;OTTHUMP00000235569;selenoprotein H APPROVED protein-coding 18251 07447 607914 REVIEWED 1605575 C11orf40 chromosome 11 open reading frame 40 11 11 11 p15.5 4716853 4723256 - 4549229 4555626 - 4592653 4599050 - 20237496 143501 Q8WZ69 ABBA01028640;AC090719;AF439154;AMYH01003361;CH471064;NM_144663 AAI52950;AAL31642;EAW68838;NP_653264;Q8WZ69 Hs.350556 NOV1 OTTHUMP00000229412;putative uncharacterized protein C11orf40;ro/SSA1-related protein protein-coding ENSG00000171987 23986 17643 PREDICTED 1347638 C11orf16 chromosome 11 open reading frame 16 11 11 11 p15.3 9061388 9074315 - 8898199 8911129 - 8941623 8954553 - 6480464 16344560;16189514;15489334;12477932;11528127;8889548;8125298 56673 E9PI19;E9PNY9;Q9NQ32 ABBA01061203;AC026894;AJ400877;AK074455;AK223377;AMYH01003377;BC027865;CA310676;CH471064;DA399415;NM_020643 AAH27865;BAD97097;CAB92289;EAW68611;EAW68612;EAW68613;NP_065694;Q9NQ32 Hs.277349 OTTHUMP00000230641;OTTHUMP00000230642;hypothetical protein LOC56673;uncharacterized protein C11orf16 protein-coding ENSG00000176029 1169 12604 VALIDATED 1601924 C11orf44 chromosome 11 open reading frame 44 11 11 q24.3 130048063 130089472 + 130542853 130587247 + 14702039;23251661 283171 Q8N8P7 ABBA01023046;AK096377;AMYH01004130;AP003486;CH471065;NM_001271983;XR_110537;XR_111233;XR_171928 BAC04771;EAW67791;NP_001258912;Q8N8P7 Hs.376151 1737707 D11S3304 FLJ39058 uncharacterized protein C11orf44 protein-coding ENSG00000175728 26805 08250 VALIDATED 1350055 C11orf32 chromosome 11 open reading frame 32 12970790;12477932;8619474 442871 BC040643;U90916 Hs.368592 protein-coding 21712 1323665 C11orf24 chromosome 11 open reading frame 24 11 11 11 q13 65362696 65374268 - 67785383 67795997 - 68028803 68039469 - 6480464 15498874;15489334;12975309;12477932;11401438 53838 E9PI63;E9PRU5;Q96F05 ABBA01024008;AF264781;AF370372;AMYH01003759;AP002813;AP002992;AY358754;BC011765;BG701401;CH471076;NM_022338 AAG36936;AAH11765;AAQ15208;AAQ89114;ADZ15751;EAW74702;EAW74703;EAW74704;NP_071733;Q96F05 Hs.303025 1709710;2135270;2163601;2185635 RH17410;RH45838;SGC38070;SHGC-86344 DM4E3 OTTHUMP00000236022;OTTHUMP00000236024;hypothetical protein LOC53838;uncharacterized protein C11orf24 protein-coding ENSG00000171067 1174 10704 610880 VALIDATED 1603159 C11orf35 chromosome 11 open reading frame 35 11 11 11 p15.5 617191 623436 - 544857 550779 - 554850 560779 - 15489334;12477932 256329 C9JV74;E9PJR3;Q8IXW0 ABBA01015192;AI539379;AMYH01003287;AP006284;BC037936;BC039077;BX384084;BX384085;CH471158;NM_173573 AAH39077;EAX02345;EAX02346;EAX02347;NP_775844;Q8IXW0 Hs.669395 1693542 SHGC-58456 MGC35138 OTTHUMP00000162850;hypothetical protein LOC256329;uncharacterized protein C11orf35 protein-coding ENSG00000185522 28561 14600 VALIDATED 1345109 C11orf30 chromosome 11 open reading frame 30 11 11 q13.5 75833717 75940237 + 76156069 76262589 + 6480464 16615912;19131338;19124506;18950845;18787380;18587394;18393977;18314909;16236351;16145051;16029503;15978617;15947784;15489334;15302935;14702039;14651845;12477932;19636701;21409565;19349984;20379614;20453000;20503266;19760754;21064104;21072187;20349280;20508642;21327470;21987572;19471022;21693764;21906983;22070912;22036096;22315412;21102463;23042114;22505724 56946 B7ZKT8;B7ZKU0;B7ZKU2;E9PMC9;E9PPE6;H0YCS3;H0YDI4;H0YEP9;H0YET8;Q17RM7;Q7Z589 ABBA01017449;AF226047;AJ430203;AK023651;AK125114;AK126030;AK304043;AK304106;AK309621;AMYH01003821;AP002360;AP003165;AY070433;BC021688;BC029375;BC033404;BC117265;BC143370;BC143374;BC143376;BG722092;BX647398;CH471076;NM_020193 AAF86947;AAH29375;AAH33404;AAI17266;AAI43371;AAI43375;AAI43377;AAL65260;BAB14627;BAG54147;BAG54280;BAG64954;BAG65009;CAD22881;EAW74996;EAW74997;EAW74998;EAW74999;EAW75000;NP_064578;Q7Z589 Hs.352588 1654874;1670406;1677410;1680705;1697880;1854586;2115790;2120438;2125343;2176511;5022578;5024761;5109281 B291YH9;D11S4372;D11S493;D1S1423;D1S1425;RH102468;RH12113;RH36108;RH36905;RH91459;RH93961;SHGC-31396;SHGC-57297 EMSY;FLJ90741;GL002 OTTHUMP00000229238;OTTHUMP00000229239;OTTHUMP00000229240;OTTHUMP00000229241;OTTHUMP00000229242;OTTHUMP00000229289;protein EMSY protein-coding ENSG00000158636 18071 10544 608574 VALIDATED 1603865 C11orf47 chromosome 11 open reading frame 47 11 p15.4 6475107 6498666 + 14702039;12477932 283294 AC084337;AK093028;AK096944;BC111765;BX648742;NM_173589 AAI11766;BAC04023;NP_775860;Q2NKK8 Hs.377188 FLJ35709;MGC133191 protein-coding 26651 08184 1602976 C11orf42 chromosome 11 open reading frame 42 11 11 11 p15.4 6345882 6351444 + 6183374 6188938 + 6226798 6232365 + 15489334;12477932 160298 Q8N5U0 AA781757;ABBA01028663;AC022762;AMYH01003366;BC031612;CH471064;NM_173525 AAH31612;EAW68741;NP_775796;Q8N5U0 Hs.278221 MGC34805 OTTHUMP00000164534;hypothetical protein LOC160298;uncharacterized protein C11orf42 protein-coding ENSG00000180878 28541 14590 VALIDATED 1604913 C11orf55 chromosome 11 open reading frame 55 11 p13 36247410 36251485 - 14702039 399879 Q6ZST8 AC087277;AK127155;NM_207428 BAC86858;NP_997311;Q6ZST8 Hs.99443 2109181 COMMD9_9578 FLJ45212 protein-coding 23262 13500 1604294 C11orf48 chromosome 11 open reading frame 48 11 11 11 q12.3 59759867 59768820 - 62186865 62195817 - 62430289 62439241 - 6480464 17154719;14702039;12477932;16196087;21139048 79081 E9PJ17;E9PL64;E9PMK4;E9PQ29;E9PRG8;F5H6J2;Q9BQE6 ABBA01003235;ABBA01003236;AK055736;AK124145;AK302538;AMYH01003690;AP001458;BC001434;BI831485;CH471076;NM_024099 AAH01434;BAG63810;EAW74052;EAW74053;EAW74054;EAW74055;EAW74056;EAW74057;EAW74058;NP_077004;Q9BQE6 Hs.9061 1671442;1769769;5022200;5022578;5022651;5109281 D11S2921;D11S4642;D1S1423;D1S1425;L18426;RH66004 MGC2477 OTTHUMP00000236272;OTTHUMP00000236273;OTTHUMP00000236274;hypothetical protein LOC79081;uncharacterized protein C11orf48 protein-coding ENSG00000162194 28351 14499 VALIDATED 1606680 C11orf45 chromosome 11 open reading frame 45 11 11 11 q24.3 125937769 125943905 - 128274670 128280802 - 128769460 128776126 - 6480464 15489334;12477932;21832049;16344560 219833 Q8TAV5 ABBA01023015;AK125634;AK314137;AMYH01004122;AP000920;BC025756;BX956612;CH471065;DB219954;NG_023406;NM_001256088;NM_145013;NR_045767 AAH25756;ABM82570;ABM85759;BAG36827;BAG54227;EAW67728;EAW67729;EAW67730;NP_001243017;NP_659450;Q8TAV5 Hs.689860 FLJ43646;MGC35558 OTTHUMP00000230990;OTTHUMP00000230991;putative uncharacterized protein C11orf45 protein-coding ENSG00000174370 28584 11344 VALIDATED 1353268 C11orf6 chromosome 11 open reading frame 6 9286704 742 1178 1604761 C11orf52 chromosome 11 open reading frame 52 11 11 11 q23.1 108942809 108950804 + 111294811 111302805 + 111789601 111797595 + 6480464 15489334;14702039;12477932;21832049 91894 E9PPX5;Q96A22 ABBA01039810;AK057948;AMYH01004032;AP000907;BC008501;BQ102454;CH471065;NG_009824;NM_080659 AAH08501;BAB71620;EAW67170;NP_542390;Q96A22 Hs.97013 FLJ25219;MGC131888;MGC14839 OTTHUMP00000234296;OTTHUMP00000234297;hypothetical protein LOC91894;uncharacterized protein C11orf52 protein-coding ENSG00000149300 30531 14444 VALIDATED 1605809 C11orf53 chromosome 11 open reading frame 53 11 11 11 q23.1 108279889 108310160 + 110631917 110662183 + 111126707 111156973 + 18753146;15489334;12477932;17207965;21832049 341032 Q8IXP5 ABBA01039824;AMYH01004029;AP002448;BC039669;CH471065;NM_198498 AAH39669;ADQ33056;EAW67135;NP_940900;Q8IXP5 Hs.298685 MGC50104 OTTHUMP00000233927;hypothetical protein LOC341032;uncharacterized protein C11orf53 protein-coding ENSG00000150750 30527 14663 PREDICTED 1604290 C11orf49 chromosome 11 open reading frame 49 11 11 11 p11.2 47103848 47325170 + 46914827 47142508 + 46958251 47185932 + 6480464 16713569;16381901;16189514;15489336;15489334;14702039;12477932;11230166;11076863;8889548;16169070;21502573;17207965;20379614;18029348;21900206;21906983;16344560;21963094;21988832 79096 B4DUV7;E9PI12;E9PI28;E9PQA0;E9PQS2;F5H6E0;H0YDE7;H0YDJ0;Q9H6J7 ABBA01060721;ABBA01060722;ABBA01060723;ABBA01060724;ABBA01060725;AC021573;AC090470;AC090589;AC103792;AK025863;AK293609;AK300813;AK315639;AK316318;AL136575;AMYH01003536;AMYH01003537;AMYH01003538;AMYH01003539;BC001860;BC009455;BC013988;BC052291;BI763384;BQ428072;BU728094;CH471064;CK724853;CR457351;DA374145;DA487960;DB027437;NM_001003676;NM_001003677;NM_001003678;NM_001278222;NM_024113;NR_103471;NR_103472 AAH01860;AAH09455;AAH13988;AAH52291;ADQ31717;BAB15262;BAG57072;BAG62469;BAH14689;CAB66510;CAG33632;CAL38461;CAL38682;EAW67969;EAW67970;EAW67971;EAW67972;EAW67973;NP_001003676;NP_001003677;NP_001003678;NP_001265151;NP_077018;Q9H6J7 Hs.368296 1650999;1679706;1685421;1701120;1768054;1768056;1854697;2134341;2140282;2146850;2161404;2163167;5114561 A002C04;AFM310VE1;D11S1085;D11S2039;D11S3969;D11S4059;D11S4709;G19914;RH104188;RH10546;RH66756;T03584;WI-14595 FLJ22210;MGC4707 OTTHUMP00000234069;OTTHUMP00000234070;OTTHUMP00000234071;OTTHUMP00000234073;UPF0705 protein C11orf49;hypothetical protein LOC79096 protein-coding ENSG00000149179 28720 08332 VALIDATED 1603055 C11orf54 chromosome 11 open reading frame 54 11 11 11 q21 90766246 90787706 + 93114441 93135895 + 93474793 93496247 + 6480464 16522806;16189514;15498874;15489334;12477932;11256614;11230166;8125298;19060904;21832049;18781797;21139048;21906983;22505724 28970 E9PIP1;E9PJU8;E9PLB3;E9PLC5;E9PPB5;E9PQS1;E9PR95;E9PSC3;Q9H0W9 ABBA01040043;AF092133;AK129932;AK225977;AK291833;AK292215;AL136605;AMYH01003959;AMYH01003960;AP001273;AY203960;BC007110;BC012298;BC046477;CH471065;CR533538;NM_014039 AAD40375;AAH07110;AAH12298;AAP34483;ACE86551;ACE87233;BAF84522;BAF84904;CAB66540;CAG38569;EAW66915;EAW66916;EAW66917;EAW66918;EAW66919;NP_054758;Q9H0W9 Hs.8360 1657058;1675389;1687393;2110683;5020740 L17809;PTD012_9567;RH46581;RH98894;STS-T40968 PTD012 LP4947;OTTHUMP00000235970;OTTHUMP00000235971;OTTHUMP00000235973;OTTHUMP00000235974;ester hydrolase C11orf54 protein-coding ENSG00000182919 30204 17923 PROVISIONAL 1605379 C11orf57 chromosome 11 open reading frame 57 11 11 11 q23.1 109098159 109109066 + 111450178 111461084 + 111944968 111955874 + 6480464 21145461;17213182;17207965;15489334;14702039;12477932;8889548;19322201;21988832 55216 E9PKA8;E9PLE3;E9PPH9;E9PQL5;E9PSC8;Q6ZUT1 AB096251;ABBA01039805;AK001588;AK094203;AK125340;AMYH01004034;AP000907;AP002007;BC005403;BC030546;BC048133;BC072455;BG115155;BM670479;BX538107;CD244552;CD706604;CH471065;DT220380;EL736728;NM_001082969;NM_001082970;NM_018195;NR_103469 AAH05403;AAH30546;AAH48133;AAH72455;BAA91774;BAC86137;CAD98020;EAW67178;EAW67179;NP_001076438;NP_001076439;NP_060665;Q6ZUT1 Hs.195060 1669935;1676286;1677995;1683709;1688610;1715823;2136430;2144740;2148222;2153457;2158077;5016478;5022578;5022651;5037552 D11S2329E;D11S2921;D1S1423;D8S2279;GDB:434012;RH119608;RH64925;RH80714;RH91851;RH94303;RH94343;SHGC-53144;STS-N20376;WI-11979;WI-13525 FLJ10726 OTTHUMP00000196623;OTTHUMP00000196624;OTTHUMP00000234713;OTTHUMP00000234714;OTTHUMP00000234718;OTTHUMP00000234719;hypothetical protein LOC55216;uncharacterized protein C11orf57 protein-coding ENSG00000150776 25569 07695 VALIDATED 1605626 C11orf63 chromosome 11 open reading frame 63 11 11 11 q24.1 119912750 119989824 + 122258683 122335640 + 122753473 122830430 + 6480464 15489334;14702039;12477932;20379614;21832049;19953087;11329013 79864 B3KUM2;Q6NUN7 ABBA01031278;AK027207;AK097534;AK291625;AMYH01004095;AP003040;AP004318;BC009820;BC068507;BG182647;BU069407;CD244380;CH471065;NM_024806;NM_199124 AAH09820;AAH68507;BAB15691;BAF84314;BAG53484;EAW67533;EAW67534;EAW67535;EAW67536;NP_079082;NP_954575;Q6NUN7 Hs.164705 1847133;5022578;5022635 D11S2750;D1S1423;DXS6735 FLJ23554 OTTHUMP00000231741;OTTHUMP00000231742;hypothetical protein LOC79864;uncharacterized protein C11orf63 protein-coding ENSG00000109944 26288 08035 VALIDATED 1605695 C11orf58 chromosome 11 open reading frame 58 11 11 11 p15.1 16887272 16907025 + 16716770 16734149 + 16760148 16779901 + 9263035;17081983;16094384;15592455;15489334;15342556;14702039;12477932;16169070;19615732;17207965;22863883;22939629;21900206;21987572;21890473;21906983;21963094;22053931;22505724 10944 E3W975;E9PM92;E9PQA1;E9PRZ9;O00193 ABBA01061082;ABBA01061083;AC026639;AK057169;AK093998;AK094549;AK315382;AMYH01003408;AMYH01003409;BC007103;BC016352;BC020937;BC103747;BP210918;BP226882;BU661194;BX648095;CH471064;CR456882;NM_014267;U51678 AAB99729;AAH07103;AAH16352;AAH20937;AAI03748;ADQ32805;BAG37775;CAG33163;EAW68455;EAW68456;EAW68457;NP_055082;O00193 Hs.645792 1679555;1683851;1684736;1685852;1688839;1699582;1725837;2173964;5015861;5015961;5022322;5022450;5037552;5094052;5117897;7185938 D10S16;D10S275;D11S2560;D15S1477;D8S2279;G34942;G62005;GDB:631813;RH103392;RH65290;RH66943;RH69440;RH70667;RH93893;STS-N24765 DKFZp686N0232;IMAGE145052;MGC117265;SMAP OTTHUMP00000231501;OTTHUMP00000231502;OTTHUMP00000231503;OTTHUMP00000231504;small acidic protein protein-coding 16990 18069 VALIDATED 1603171 C11orf65 chromosome 11 open reading frame 65 11 11 11 q22.3 105408665 105493182 - 107758937 107843468 - 108253727 108338258 - 16344560;16189514;15489334;12477932;19692168;17207965;21186350;21845381 160140 B4DZU4;E9PQ22;H0YD27;Q8NCR3 ABBA01039865;ABBA01039866;ABBA01039867;ABBA01039868;AK303096;AMYH01004021;AMYH01004022;AP005718;BC029536;CH471065;DB104722;NM_152587 AAH29536;ADQ32314;BAG64206;EAW67116;EAW67117;EAW67118;NP_689800;Q8NCR3 Hs.653180 1341224;1675834;1771108;2111816;2133951;7185380 D11S1778;D11S4498;D11S535;RH68683;SGC35029 MGC33948 OTTHUMP00000233034;OTTHUMP00000233297;hypothetical protein LOC160140;uncharacterized protein C11orf65 protein-coding ENSG00000166323 28519 14579 VALIDATED 1602657 C11orf69 chromosome 11 open reading frame 69 11 p13 33650553 33652224 + 15489334;14702039;12477932 120196 Q8TAY4 AK094307;AL049629;BC025668;CH471064;NM_152314 AAH25668;EAW68195;NP_689527;Q8TAY4 Hs.22270 MGC34830 protein-coding 28545 14593 1602858 C11orf68 chromosome 11 open reading frame 68 11 11 11 q13.1 63008205 63010455 - 65440857 65443107 - 65684281 65686531 - 6480464 16169070;16511166;16189514;15489334;12477932;8889548;17207965;21139048;20360068;21900206 83638 Q9H3H3 ABBA01024097;AF073483;AMYH01003727;AP006287;BC004414;BC010512;BC013185;BM705907;CH471076;CX866110;NM_001135635;NM_031450 AAG43171;AAH04414;AAH10512;AAH13185;ADQ31656;EAW74470;EAW74471;NP_001129107;NP_113638;Q9H3H3 Hs.433573 1858198;2142411 D11S4689;WI-17663 BLES03;P5326 OTTHUMP00000211566;OTTHUMP00000234042;UPF0696 protein C11orf68;basophilic leukemia expressed protein BLES03;basophilic leukemia-expressed protein Bles03;protein p5326 protein-coding ENSG00000175573 28801 12553 VALIDATED 1625825 C11orf81 chromosome 11 open reading frame 81 p15.5 100073348 AK124467;AK124948 BAC85857;BAC86004;Q6ZV59;Q6ZVK4 Hs.595642;Hs.595659 FLJ42958 protein-coding 33489 1605606 C11orf70 chromosome 11 open reading frame 70 11 11 11 q22.1 99079748 99116853 + 101423409 101459360 + 101918169 101955291 + 6480464 15489334;14702039;12477932;21145461 85016 E9PM77;H0YCT8;Q7Z2V0;Q9BRQ4 ABBA01039949;ABBA01039950;ABBA01039951;ABBA01039952;AK094851;AMYH01003991;AP001527;BC006128;BC054869;BG700929;CH471065;NM_001195005;NM_032930 AAH06128;AAH54869;EAW67009;EAW67010;NP_001181934;NP_116319;Q9BRQ4 Hs.98328 1675648;5022649 D11S2875;RH98419 MGC13040 OTTHUMP00000235690;OTTHUMP00000235691;OTTHUMP00000235692;hypothetical protein LOC85016;uncharacterized protein C11orf70 protein-coding ENSG00000137691 28188 14433 VALIDATED 1604001 C11orf71 chromosome 11 open reading frame 71 11 11 11 q23.2 111415112 111424085 - 113775003 113776443 - 114262170 114271272 - 6480464 15489334;14702039;12477932;17207965;21832049;21804549 54494 Q6IPW1 ABBA01039770;AK000017;AMYH01004043;AP002373;BC009041;BC071695;CH471065;CR457222;HY013971;NM_001271562;NM_019021 AAH09041;AAH71695;ADQ31939;BAA90886;CAG33503;EAW67245;NP_001258491;NP_061894;Q6IPW1 Hs.715083 1685928;1771929;2131054;2162879 RH99159;SHGC-36830;STS-H59141;STS-N34855 FLJ20010 OTTHUMP00000238389;hypothetical protein LOC54494;uncharacterized protein C11orf71 protein-coding ENSG00000180425 25937 07874 VALIDATED 1601925 C11orf72 chromosome 11 open reading frame 72 11 q13.2 67126927 67130753 - 15489334;14702039;12477932 283135 Q8NBR9 AK075315;AP003385;BC104448;BC104449;CH471076;CQ783922;NM_173578 AAI04449;AAI04450;BAC11541;CAF86926;EAW74651;NP_775849;Q8NBR9 Hs.382074 2135126;2154732 D11S2245E;STS-N93261 FLJ90834;MGC129824;MGC129825 protein-coding 26915 08302 1603277 C11orf74 chromosome 11 open reading frame 74 This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 11 11 11 p12 36768524 36833247 + 36572669 36637393 + 36616093 36680817 + 6480464 14702039;12477932;18433331;19773279;17207965;21478494;12107413;12766061;16157265;8889548 119710 A8K468;B4DSA3;B4DYW4;E9PJ48;E9PL16;E9PPH4;Q86VG3 ABBA01060845;AC139427;AK095997;AK290833;AK299642;AK302634;AMYH01003500;BC009561;BC051031;BI831382;BM670168;BQ018679;CD101968;CD674194;CD678640;CH471064;DQ121386;HY051439;NG_033154;NM_001276722;NM_001276723;NM_001276724;NM_001276725;NM_001276726;NM_001276727;NM_138787;NR_077243 AAH09561;AAH51031;AAZ29248;ADQ33126;ADZ15982;BAF83522;BAG61565;BAG63876;EAW68112;EAW68113;EAW68114;EAW68115;EAW68116;NP_001263651;NP_001263652;NP_001263653;NP_001263654;NP_001263655;NP_001263656;NP_620142;Q86VG3 Hs.159376 1763363;1791318;2158880;2190819 D11S4272;PMC102178P2;RAG2;SHGC-147088 FLJ38678;HEPIS HEPIS;OTTHUMP00000232798;OTTHUMP00000232799;hypothetical protein LOC119710;uncharacterized protein C11orf74 protein-coding ENSG00000166352 25142 14019 REVIEWED 2298933 C11orf86 chromosome 11 open reading frame 86 11 11 11 q13.2 64071255 64072980 + 66499330 66501055 + 66742754 66744479 + 21926972 254439 A6NJI1 ABBA01024054;AK026328;AMYH01003738;AP003176;NM_001136485 A6NJI1;NP_001129957 Hs.232604 FLJ22675 OTTHUMP00000204297;hypothetical protein LOC254439;uncharacterized protein C11orf86 protein-coding ENSG00000173237 34442 PREDICTED 1604822 C11orf73 chromosome 11 open reading frame 73 11 11 11 q14.2 83323908 83367617 + 85690936 85734633 + 86013253 86056985 + 6480464 15489334;14702039;12477932;11042152;8889549;19734545;8125298;21832049;21139048;22541429 51501 E9PJB2;E9PPG8;Q53FT3 AA148558;ABBA01017322;ABBA01017323;AF151082;AF161487;AF161527;AK001447;AK125010;AK223198;AK298763;AMYH01003851;AP001148;BC001677;BC006476;BC015991;BC018080;BC021621;BE858273;BP423222;BX332668;CH471076;NM_016401;NR_024596;NR_024597;NR_024598 AAF29102;AAF29142;AAF36168;AAH01677;AAH06476;AAH15991;AAH18080;AAH21621;ABM83657;ABM86903;BAA91698;BAD96918;BAG60905;EAW75133;EAW75134;EAW75135;EAW75136;EAW75137;NP_057485;Q53FT3 Hs.283322 1797078;2161120 AW465254;RH46883 FLJ43020;HSPC138;HSPC179;Hikeshi;L7RN6;OPI10 OTTHUMP00000235491;OTTHUMP00000235492;lethal, Chr 7, Rinchik 6;protein Hikeshi;uncharacterized protein C11orf73 protein-coding ENSG00000149196 26938 13701 614908 VALIDATED 1605958 C11orf80 chromosome 11 open reading frame 80 11 11 11 q13.2 63839232 63954092 + 66268783 66367375 + 66512207 66610987 + 6480464 12477932;18160775;8125298;21906983;21926972 79703 B4DXL1;C9JZP8;E9PIE7;E9PJS1;E9PKM2;E9PMI8;E9PMU2;E9PNG9;H0YD22;H0YD55;H0YDL3;H0YE21;Q8N6T0 ABBA01024061;ABBA01024062;ABBA01024063;ABBA01024064;AK026184;AK225435;AK302025;AMYH01003736;AP000485;AP001157;BC028240;BE676873;BI559574;CH471076;NM_024650;NR_048553 AAH28240;ADZ16029;BAB15387;BAG63423;EAW74562;EAW74563;NP_078926;Q8N6T0 Hs.292088 1668178;1682049;1683259;1742561;1748401;1751473;1756913;1852576;2152544;2153975;2219470 D19Ertd98e;GDB:197884;PC;PC__5832;RH16038;RH46345;RH65295;RH98933;SHGC-105288;SHGC-144078;SHGC-30028 FLJ22531 OTTHUMP00000235640;OTTHUMP00000235643;putative uncharacterized protein C11orf80 protein-coding ENSG00000173715 26197 07993 VALIDATED 1604233 C11orf84 chromosome 11 open reading frame 84 11 11 11 q13.1 60906819 60921088 + 63337499 63351766 + 63580923 63595190 + 6480464 12477932;17207965;19471022;21693764;21252943;22554406;20462248;23246001;18271526 144097 H0YGK9;H0YGY5;Q9BUA3 ABBA01003271;AMYH01003695;AMYH01003696;AP006289;BC002782;BC007540;BC056402;CH471076;CR749697;NM_138471 AAH02782;AAH07540;AAH56402;ADQ33061;CAH18477;EAW74172;NP_612480;Q9BUA3 Hs.502793 1679111 RH92977 DKFZp762N0114 OTTHUMP00000236746;hypothetical protein BC007540;hypothetical protein LOC144097;uncharacterized protein C11orf84 protein-coding ENSG00000168005 25115 14064 PREDICTED 1602159 C11orf92 chromosome 11 open reading frame 92 11 11 11 q23.1 108317301 108323726 - 110669380 110675749 - 111164114 111170539 - 6480464 18753146;19843678;20501757;20530476;20638935;20648012;23266556;18372901;21761138 399948 Q6ZS62 AB096245;ABBA01039823;AK127703;AMYH01004029;AP002448;CR936778;NG_027686;NR_034154 Q6ZS62 Hs.729225 1661431;1858167;5022578 D1S1423;RH46428;SGC44508 DKFZp781P19126;FLJ45803 hypothetical protein LOC399948 miscrna ENSG00000196167 33789 13513 VALIDATED 2301118 C11orf91 chromosome 11 open reading frame 91 11 11 11 p13 33867158 33869790 - 33676551 33678862 - 33719654 33722286 - 6480464 11181995 100131378 H0YDE1;Q3C1V1 AB231759;AB231760;ABBA01060883;ABBA01060884;AL049629;AMYH01003485;CH471064;NM_001166692 BAE46895;BAE46896;EAW68194;NP_001160164;Q3C1V1 Hs.709466 OTTHUMP00000232606;hypothetical protein LOC100131378;uncharacterized protein C11orf91 protein-coding 34444 VALIDATED 1602966 C11orf82 chromosome 11 open reading frame 82 11 11 11 q14.1 79922489 79955453 + 82290417 82323349 + 82612737 82645701 + 6480464 17515607;16344560;14702039;12477932;23251661;23383273 220042 B4DMA1;B4DS54;E9PLJ5;E9PM93;E9PMA7;E9PN94;E9PQP9;Q8IXT1 AA477171;ABBA01017369;AK023998;AK058145;AK096157;AK292399;AK297366;AK299581;AMYH01003839;AP001646;BC039268;CH471076;DB023053;DB454086;NM_145018 AAH39268;ACE86786;ACE87472;BAB14764;BAB71685;BAF85088;BAG59813;BAG61516;EAW75077;NP_659455;Q8IXT1 Hs.165607 5024761 RH36905 FLJ13936;FLJ25416;FLJ38838;noxin OTTHUMP00000234447;OTTHUMP00000234449;OTTHUMP00000234450;OTTHUMP00000234451;OTTHUMP00000234453;nitric oxide-inducible gene protein protein-coding ENSG00000165490 26351 08062 VALIDATED 3543119 C11orf94 chromosome 11 open reading frame 94 11 11 11 p11.2 46075690 46076438 - 45884661 45885409 - 45928085 45928833 - 6480464 11181995 143678 C9JXX5 ABBA01060758;AC068385;AMYH01003532;CH471064;CS110276;CS441543;NG_012153;NM_001080446 C9JXX5;CAJ09917;CAL68853;EAW68025;NP_001073915 Hs.193741 1700176 RH103702 OTTHUMP00000234738;hypothetical protein LOC143678;uncharacterized protein C11orf94 protein-coding ENSG00000234776 37213 VALIDATED 1604186 C11orf85 chromosome 11 open reading frame 85 11 11 11 q13.1 62031898 62065337 - 64462505 64495934 - 64705929 64739358 - 14702039;12477932 283129 B3KS99;E9PPE5;E9PRZ4;H0YEC1;Q3KP22 ABBA01024138;ABBA01024139;AK093130;AMYH01003715;AMYH01003716;AP000436;AP001187;BC033501;BC106951;BC106952;CH471076;NM_001037225 AAI06952;AAI06953;BAG52661;EAW74328;NP_001032302;Q3KP22 Hs.567793 1648536;1684491;1709622;2124233 G33093;G33094;RH92578;SHGC-85173 MGC126364 OTTHUMP00000230539;hypothetical protein LOC283129;uncharacterized protein C11orf85 protein-coding ENSG00000168070 27441 18761 PREDICTED 2298819 C11orf83 chromosome 11 open reading frame 83 11 11 11 q12.3 59768705 59769431 + 62195702 62196428 + 62439126 62441162 + 6480464 15489334;15340161;12975309;12477932;8889548;21139048;21890473;20159687;22939629 790955 Q6UW78 ABBA01003236;AI972746;AMYH01003690;AP001458;AY358935;BC090057;BF055120;BG385605;CA422425;CF131173;CS072473;NM_001085372 AAH90057;AAQ89294;CAI93611;NP_001078841;Q6UW78 Hs.569009 1671442;5017326;5024761 D8S377;RH36905;RH66004 CCDS41658.1;MGC87549;UNQ655 UPF0723 protein C11orf83;VEGA:LOC790955;hypothetical protein LOC790955 protein-coding ENSG00000204922 34399 VALIDATED 1351175 C12orf15 chromosome 12 open reading frame 15 404282 31383 1602158 C11orf88 chromosome 11 open reading frame 88 11 11 11 q23.1 108538699 108560942 + 110890720 110912966 + 111385510 111407756 + 12477932 399949 E9PN74;H0YE60;Q6PI97 ABBA01039819;AI829856;AK128145;AMYH01004031;AP002008;BC039505;CH471065;NM_001100388;NM_207430 AAH39505;BAC87297;EAW67142;NP_001093858;NP_997313;Q6PI97 Hs.411600 2111778 D11S4475 FLJ46266 OTTHUMP00000234048;OTTHUMP00000234049;OTTHUMP00000234050;UPF0722 protein C11orf88;hypothetical gene supported by BC039505;hypothetical protein LOC399949 protein-coding ENSG00000183644 25061 13529 VALIDATED 1604683 C11orf87 chromosome 11 open reading frame 87 11 11 11 q22.3 106447057 106454104 + 108798085 108801533 + 109292846 109299893 + 12477932;14702039;16344560 399947 Q6NUJ2 AB096240;ABBA01039849;AK091086;AK303693;AMYH01004025;AP000775;BC035798;BC068577;CH471065;DA221578;DA232989;NM_207645 AAH35798;AAH68577;BAG64681;EAW67125;NP_997528;Q6NUJ2 Hs.172982 1655103;2159044;2162976;2172180;2172182 2042;A006D24;G20722;RH66482;WI-12221 FLJ33767;LOH11CR1A OTTHUMP00000233418;hypothetical protein LOC399947;uncharacterized protein C11orf87 protein-coding ENSG00000185742 33788 14218 VALIDATED 4108561 C11orf96 chromosome 11 open reading frame 96 11 11 11 p11.2 44109952 44111266 + 43903468 43922578 + 43964106 43965433 + 6480464 12477932 387763 E9PKL4;Q7Z7L8 ABBA01060773;ABBA01060774;AC087521;AMYH01003521;AMYH01003522;BC052560;NM_001145033 AAH52560;NP_001138505;Q7Z7L8 Hs.530443 1682073 RH93880 AG2 OTTHUMP00000233416;protein Ag2 homolog;uncharacterized protein C11orf96 protein-coding 38675 VALIDATED 2910589 C11orf95 chromosome 11 open reading frame 95 11 11 11 q13 60853238 60859651 - 63283940 63290900 - 63527364 63536113 - 6480464 12477932;14702039;20607705 65998 C9JLR9 AB231750;AB231751;AB231752;ABBA01003264;ABBA01003265;ABBA01003266;AK096306;AMYH01003694;AP006289;BC000572;BC021866;BC033262;BC065479;NM_001144936 BAE46893;C9JLR9;NP_001138408 Hs.191073 1658131;1786238 D7S2862;SHGC-132011 MGC3032 hypothetical protein LOC65998;uncharacterized protein C11orf95 protein-coding 28449 PREDICTED 1350875 C12orf10 chromosome 12 open reading frame 10 12 12 12 q13 53342755 53350242 + 51979737 51987232 + 53693470 53700965 + 6480464 15231748;20377893;16996721;19014353;15146197;12477932;17207965;22863883;22939629;18624398;18781797;21139048;21693764;16263121;22505724 60314 F8VQQ3;F8VR84;H3BPH3;Q86UA3;Q9HB07 AA972697;ABBA01008325;AC073611;AF111805;AF289485;AK293449;AMYH01004479;BC013956;BC028904;BC051871;BM551107;CH471054;CN308888;NM_021640 AAG17847;AAH13956;AAH28904;AAH51871;AAL39007;ADQ33071;ADZ15817;BAG56948;EAW96687;EAW96688;EAW96689;EAW96690;NP_067653;Q9HB07 Hs.655988 1659302;1672010;1736262;2146252;2149106 D12S1190E;D12S1220E;RH11320;RH15738;SHGC-31943 Gamm1;MST024;MSTP024;MYG;MYG1 MYG1 protein;OTTHUMP00000242634;OTTHUMP00000242636;OTTHUMP00000242637;UPF0160 protein MYG1, mitochondrial;melanocyte related protein-coding ENSG00000139637 17590 10705 611366 VALIDATED 1606480 C12orf29 chromosome 12 open reading frame 29 12 12 12 q21.32 88097282 88111951 + 86953399 86968068 + 88429268 88443937 + 16381901;15489336;14702039;12477932;11230166;11076863;21139048 91298 G3V1X7;Q8N999 ABBA01053428;AC091516;AK095477;AK311153;AK311222;AL049382;AL137488;AMYH01004646;BC035136;BC058014;BC092422;BX537868;BX640968;BX648026;CH471054;CR936776;NM_001009894 AAH35136;AAH58014;AAH92422;BAC04555;CAB70767;CAD97870;CAE45983;CAH10541;CAL37802;EAW97409;EAW97410;EAW97411;EAW97412;NP_001009894;Q8N999 Hs.591009 1653957;1674616;1686708;2118522 RH15617;RH77897;RH77993;WI-22205 DKFZp313K0436;DKFZp434N2030;DKFZp686L04169;FLJ38158;MGC102978 OTTHUMP00000242335;hypothetical protein LOC91298;uncharacterized protein C12orf29 protein-coding ENSG00000133641 25322 13199 VALIDATED 2798065 C11orf93 chromosome 11 open reading frame 93 11 11 11 q23.1 108323163 108332531 + 110673563 110684670 + 111169271 111179460 + 6480464 10737800;12477932;14702039;15489334;16344560;18372901;19240061;21071539;21761138;23266556 120376 A8K830;E9PMJ8 ABBA01039823;AK292195;AMYH01004029;AP002448;BC042557;BC110079;BF811304;BQ893717;DA307321;HY114242;NM_001136105;NM_001271457;NM_001271458 A8K830;AAI10080;BAF84884;NP_001129577;NP_001258386;NP_001258387 Hs.31409;Hs.744538 1646073;1658336;1697336 D11S4019;RH102165;RH44992 OTTHUMP00000233928;OTTHUMP00000233929;OTTHUMP00000233930;Uncharacterized protein LOC120376;hypothetical protein LOC120376;uncharacterized protein C11orf93 protein-coding ENSG00000214290 26978 VALIDATED 1602311 C12orf23 chromosome 12 open reading frame 23 12 12 12 q23.3 107015122 107033374 + 105873835 105891892 + 107349544 107367813 + 6480464 15489334;14702039;12477932;17207965;21139048;19322201;22504420 90488 F8VPI2;Q8WUH6 ABBA01053160;AC007541;AK001731;AK021783;AK022770;AK024021;AL117658;AMYH01004726;BC020522;CH471054;DB458911;NM_152261 AAH20522;ADQ32421;BAG50970;BAG51051;BAG51112;BAG51252;EAW97790;EAW97791;NP_689474;Q8WUH6 Hs.257664 1665955;1689117;1851005;2123792;2125917;2131366;2178933;5093332 A009L32;D12S2128;G32657;RH64940;RH68408;SGC35008;STS-N22841;WI-16699 FLJ11721;FLJ13959;MGC17943 OTTHUMP00000242615;OTTHUMP00000242616;OTTHUMP00000242617;OTTHUMP00000242619;OTTHUMP00000242620;UPF0444 transmembrane protein C12orf23;hypothetical protein LOC90488 protein-coding ENSG00000151135 28281 14462 VALIDATED 1606927 C12orf36 chromosome 12 open reading frame 36 12 12 12 p13.1 18672658 18678732 - 13415290 13420912 - 13523605 13529679 - 15489334;14702039;12477932;8889548;23377640 283422 F5GXY3;F5H3P8;Q495D7 ABBA01067858;AC022276;AK091129;AK307179;AMYH01004292;BC101220;BC101222;BC101223;BG421494;BU676022;CH471094;NR_036555 AAI01221;AAI01223;AAI01224;BAC03590;EAW96307;Q495D7 Hs.448717 1782626;2179959 RH48049;SHGC-145169 FLJ33810;FLJ97127;MGC120140 putative uncharacterized protein C12orf36 miscrna ENSG00000180861 26598 08166 VALIDATED 1606773 C12orf39 chromosome 12 open reading frame 39 12 12 12 p12.1 26834644 26839598 + 21570523 21575477 + 21679256 21684210 + 6480464 12477932;18029348;19193193;19132080;17284679;16303743;15489334;14702039;21832049;22038051 80763 F5GXE5;Q9BT56 ABBA01067971;AC006559;AK027273;AK075342;AK311147;AK311217;AMYH01004319;BC004336;CH471094;CS051133;NM_030572 AAH04336;BAG51298;BAG52117;CAI72062;EAW96444;EAW96445;NP_085049;Q9BT56 Hs.130692 1701510 RH104388 MGC10946 NPQ;OTTHUMP00000240156;neuropeptide Q;spexin protein-coding 28139 14405 PROVISIONAL 1606924 C12orf40 chromosome 12 open reading frame 40 12 12 12 q12 38824188 38919753 + 38306239 38401983 + 40019972 40115716 + 14702039;12477932 283461 Q86WS4 ABBA01049534;ABBA01049535;ABBA01049536;ABBA01049537;ABBA01049538;AC121336;AC125491;AK097445;AL705293;AMYH01004390;BC038754;BC048120;BI461967;CH471111;NM_001031748 AAH38754;AAH48120;BAC05057;EAW57808;EAW57809;EAW57810;NP_001026918;Q86WS4 Hs.648205 1671906 DXS7407 FLJ40126 OTTHUMP00000164934;OTTHUMP00000164935;hypothetical protein LOC283461;uncharacterized protein C12orf40 protein-coding ENSG00000180116 26846 08806 VALIDATED 1322478 C12orf4 chromosome 12 open reading frame 4 12 12 12 p13.3 6218946 6269682 - 4467162 4517898 - 4596901 4647637 - 6480464 15489334;20558539;12477932;11062477;21139048;21890473;21906983 57102 F5GXX6;F5H271;F5H744;H0YGS6;Q9NQ89 ABBA01048764;AC005832;AC008012;AC092826;AJ272205;AK024811;AK074479;AL834377;AMYH01004196;AMYH01004197;BC016908;BX641128;CH471116;NM_020374 AAH16908;ADZ15508;CAC01126;CAD39040;CAE46058;EAW88845;EAW88846;NP_065107;Q9NQ89 Hs.302977 1665600;1674974;1682097;2168235;2191159 MARC_15597-15598:1013621652:1;RH66493;WI-15553;WI-17772;WI-17773 FLJ21158;FLJ23899 OTTHUMP00000238409;OTTHUMP00000238410;hypothetical protein LOC57102;uncharacterized protein C12orf4 protein-coding ENSG00000047621 1184 12609 PREDICTED 1602213 C12orf44 chromosome 12 open reading frame 44 12 12 12 q13.13 51266432 51273953 + 50750025 50757546 + 52463758 52471279 + 6480464 19287211;15342556;14702039;12477932;16712791;19597335;20562859;21900206;21139048;21906983 60673 F8VQD9;F8VVA0;H3BMZ4;Q9BSB4 ABBA01031626;AC025259;AF218031;AK021835;AMYH01004471;BC005151;BC009937;BP309508;CB137838;CH471111;NM_001098673;NM_021934 AAG17273;AAH05151;AAH09937;BAB13907;EAW58229;EAW58230;NP_001092143;NP_068753;Q9BSB4 Hs.9911 2134075;2168807 D12S1180E;D12S2008 ATG101;FLJ11773 Atg13-interacting protein;OTTHUMP00000241687;OTTHUMP00000241688;OTTHUMP00000241689;autophagy-related protein 101 protein-coding ENSG00000123395 25679 08566 615089 VALIDATED 1606876 C12orf42 chromosome 12 open reading frame 42 12 12 12 q23.2 103359877 103553591 - 102219863 102413879 - 103695733 103889749 - 20379614;16344560;15489334;14702039;12477932;20659153;21878436 374470 F8VV63;F8VX61;F8W1Y6;Q96LP6 AA992269;ABBA01053216;ABBA01053217;ABBA01053218;ABBA01053219;AC084364;AC090000;AC126176;AK058052;AMYH01004706;AMYH01004707;BC039352;BC044617;BC117392;BC117394;BI830750;CH471054;DB027973;DB045383;HY002043;HY015666;HY193513;NM_001099336;NM_001278419;NM_001278420;NM_198521;NR_103526 AAH44617;AAI17393;AAI17395;ADR83362;BAB71641;EAW97704;EAW97705;EAW97706;EAW97707;EAW97708;EAW97709;NP_001092806;NP_001265348;NP_001265349;NP_940923;Q96LP6 Hs.534649 1697698;1718437 RH102365;RH123234 FLJ25323;MGC43592;MGC57409 OTTHUMP00000242560;OTTHUMP00000242657;hypothetical protein LOC374470;uncharacterized protein C12orf42 protein-coding ENSG00000179088 24729 13393 VALIDATED 1602859 C12orf49 chromosome 12 open reading frame 49 12 12 12 q24.22 116783149 116805394 - 115637979 115660226 - 117153596 117175843 - 6480464 12477932;19322201 79794 F5H6Y2;F8VPB4;F8VVN2;H0YHS8;Q9H741 ABBA01020022;AC090013;AC125603;AK025068;AK222983;AK298857;AK309652;AMYH01004779;BC019843;CH471054;NM_024738 AAH19843;BAB15058;BAD96703;BAH12886;EAW98088;EAW98089;NP_079014;Q9H741 Hs.592011 1681302 RH65029 FLJ21415 OTTHUMP00000240981;UPF0454 protein C12orf49;hypothetical protein LOC79794 protein-coding ENSG00000111412 26128 07962 PREDICTED 1603965 C12orf43 chromosome 12 open reading frame 43 12 12 12 q 121076267 121090198 - 119925231 119938683 - 121440848 121454300 - 6480464 18940312;17081983;15489334;14702039;12477932;9110174;8619474;8125298;19198612;21203500;21044950;22939635 64897 E7ENF1;F5H2A0;F5H3K2;F5H7W8;F5H8B7;F6TFQ5;G5EA44;H0YF83;H0YGK4;Q96C57 ABBA01020149;AC079602;AK022510;AK222630;AK225162;AK299170;AK301566;AK307971;AMYH01004807;BC014661;CH471054;NM_022895 AAH14661;BAB14068;BAD96350;BAG61216;BAG63061;EAW98229;EAW98230;EAW98231;EAW98232;EAW98233;NP_075046;Q96C57 Hs.528671 5022383 ECD04345 FLJ12448 OTTHUMP00000240207;OTTHUMP00000240208;OTTHUMP00000240209;OTTHUMP00000240210;OTTHUMP00000240211;OTTHUMP00000240212;OTTHUMP00000240213;hypothetical protein LOC64897;uncharacterized protein C12orf43 protein-coding ENSG00000157895 25719 07771 PROVISIONAL 1606744 C12orf45 chromosome 12 open reading frame 45 12 12 12 q23.3 105044774 105053181 + 103904228 103912635 + 105380098 105388505 + 6480464 15489334;12477932;17643375 121053 J3KN91;Q8N5I9 ABBA01053189;AC090051;AMYH01004718;BC032326;BG829346;CH471054;NM_152318 AAH32326;ABM82575;ABM85764;EAW97754;NP_689531;Q8N5I9 Hs.295563 MGC40397 OTTHUMP00000242209;OTTHUMP00000242210;hypothetical protein LOC121053;uncharacterized protein C12orf45 protein-coding 28628 17556 VALIDATED 1605567 C12orf50 chromosome 12 open reading frame 50 12 12 12 q21.32 88041830 88091190 - 86897947 86947307 - 88373816 88423176 - 14702039;12477932;20379614;17207965;22632162 160419 F8VSD7;F8VXH4;G3V208;Q8NA57 ABBA01053428;AC090060;AC091516;AK093140;AL833338;AMYH01004646;BC038413;BC062424;CH471054;HC006980;NM_152589 AAH38413;AAH62424;ADQ32974;BAC04071;CBH19295;EAW97406;EAW97407;EAW97408;NP_689802;Q8NA57 Hs.112930 1715463;5015609;5016403;5022637 D11S2766;D11S3026;G02304;RH120896 FLJ35821 OTTHUMP00000242331;OTTHUMP00000242332;OTTHUMP00000242333;hypothetical protein LOC160419;uncharacterized protein C12orf50 protein-coding ENSG00000165805 26665 08764 PROVISIONAL 1602853 C12orf52 chromosome 12 open reading frame 52 12 12 12 q24.13 113250379 113256943 + 112107938 112114502 + 113623555 113630119 + 6480464 14702039;12477932;9110174;8619474;21102556;17207965;8125298;21832049 84934 F8VRG5;Q96K30 ABBA01019949;AC089999;AK027733;AK027741;AK075358;AK123762;AK222908;AMYH01004758;AMYH01004759;AY007158;BC022092;CH471054;NM_032848 AAH22092;ADQ31897;BAB55328;BAB55333;BAC11568;BAD96628;BAG53956;EAW98041;EAW98042;NP_116237;Q96K30 Hs.524762 1650071;2182546 RH45703;STS-H97765 FLJ14827;RITA OTTHUMP00000241775;OTTHUMP00000241776;OTTHUMP00000241778;RBP-J interacting and tubulin associated;RBPJ-interacting and tubulin-associated protein;hypothetical protein LOC84934 protein-coding ENSG00000139405 25925 08606 PROVISIONAL 1603180 C12orf55 chromosome 12 open reading frame 55 12 12 12 q23.1 96549428 96706938 + 95407519 95546701 + 96883388 97022570 + 14702039;12477932;20966902 144535 E9PJL5;G3V4Y4;H0YIB5;I3L078;Q96N23;R4GNI2 ABBA01053310;ABBA01053311;AC007513;AC008118;AK056076;AK091789;AK307646;AMYH01004682;BC041426;XM_001715090;XM_001717983;XM_003960521 BAB71089;Q96N23;XP_001715142;XP_001718035;XP_003960570 Hs.535389;Hs.730039 1337030;1722811;1774980;1794156;1794158;1794160;2125993;2170126;2185518;5015607;5115198;5118342;5118412 D11S2442;D11S3014;D11S3206;D11S3270;D12S1073;D12S1716;D12S1982;D12S2105;D12S2108;G60347;PMC310794P5;PMC310794P6;PMC310794P7 C12orf63;FLJ31514;FLJ34470 chromosome 12 open reading frame 55;hypothetical protein LOC144535;uncharacterized protein C12orf55 protein-coding 26456 MODEL 1317526 C12orf5 chromosome 12 open reading frame 5 This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression of this protein also protects cells from DNA damaging reactive oxygen species and provides some protection from DNA damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region. [provided by RefSeq, Jul 2008] 12 12 p13.3 4300620 4339455 + 4430359 4469194 + 6480464;6907045 16381901;11256614;18945750;16839880;16839873;16140933;16012775;15489336;15489334;12477932;11076863;11062477;21057531;19684603;19713938;21832049;22782351;22939629;22887998;23185017;21761199;21864926;19471022;21820150;21139048;21890473;21906983;21988832;23263487;23377640 57103 Q9NQ88 ABBA01048765;ABBA01048766;AC006122;AC008012;AJ272206;AK313226;AMYH01004196;AY425618;BC012340;BX098281;CH471116;DB480618;NM_020375 AAH12340;AAQ98969;BAG36037;CAC01127;CAL37493;EAW88849;EAW88850;NP_065108;Q9NQ88 Hs.504545 1336295;1652360;1657959;1777182;2133985;5014563;5016478;5022200;5022588 D12S1725;D5S1597E;G41261;G41262;GDB:434012;L17676;L18426;SHGC-32311;STS-N39260 FR2BP;TIGAR OTTHUMP00000237991;TP53-induced glycolysis and apoptosis regulator;fructose-2,6-bisphosphatase TIGAR;fructose-2,6-bisphosphate 2-phosphatase;probable fructose-2,6-bisphosphatase TIGAR;transactivated by NS3TP2 protein APPROVED protein-coding 1185 12610 610775 REVIEWED 1603368 C12orf56 chromosome 12 open reading frame 56 12 12 12 q14.2 64326691 64449194 - 62947030 63070612 - 64660763 64784345 - 12477932;20379614 115749 F5H4K5;H0YGI1;Q8IXR9 ABBA01026604;ABBA01026605;ABBA01026606;ABBA01026607;ABBA01026608;ABBA01026609;ABBA01026610;AC012158;AC135279;AMYH01004543;AMYH01004544;AMYH01004545;AMYH01004546;AMYH01004547;BC014352;BC015121;BC039369;BX089271;NM_001099676;NM_001170633 AAH39369;NP_001093146;NP_001164104;Q8IXR9 Hs.535190 OTTHUMP00000239446;OTTHUMP00000239447;hypothetical protein LOC115749;uncharacterized protein C12orf56 protein-coding ENSG00000185306 26967 VALIDATED 1606175 C12orf54 chromosome 12 open reading frame 54 12 12 12 q13.11 47672318 47686326 + 47163290 47176434 + 48876286 48890297 + 15489334;12477932 121273 C9IYT5;H0YIT5;Q6X4T0 ABBA01031481;AC089987;AMYH01004432;AY255793;AY255794;BC031670;BF510008;BQ429029;CH471111;HC007156;NM_152319 AAH31670;AAP15250;AAP15251;CBH19383;EAW57984;EAW57985;EAW57986;NP_689532;Q6X4T0 Hs.98202 1682243;1714429 RH120207;RH92571 HSD-29;HSD-30;MGC35033 OTTHUMP00000242624;hypothetical protein LOC121273;uncharacterized protein C12orf54 protein-coding ENSG00000177627 28553 14596 VALIDATED 1603337 C12orf63 chromosome 12 open reading frame 63 12 12 12 q23.1 96707785 96825069 + 95565884 95683179 + 97041753 97159048 + 6480464 16344560;14702039;20379614;21890473 374467 Q6ZTY8 ABBA01053309;ABBA01053310;AC007564;AC008118;AK126100;AMYH01004682;AMYH01004683;CH471054;DB225896;XM_003118942;XM_003846561;XM_003960516 AAI48604;AAI53168;BAC86439;EAW97575;Q6ZTY8;XP_003118990;XP_003846609;XP_003960565 Hs.436197 1724305;1787824;1794162;2117458;5114476 D12S1055;PMC310794P9;RH119073;SHGC-173507;SHGC-17530 FLJ44112 chromosome 12 open reading frame 63;putative uncharacterized protein C12orf63 protein-coding 24777 13484 MODEL 1606929 C12orf61 chromosome 12 open reading frame 61 12 12 12 q14.1 62664078 62665761 - 61281798 61283481 - 62995531 62997214 - 6480464 12477932 283416 Q8N7H1 ABBA01026631;AC026115;AC048341;AK098456;AMYH01004538;BC038738;BC136288;CH471054;NM_175895 AAH38738;AAI36289;BAC05309;EAW97110;NP_787091;Q8N7H1 Hs.375881 1854682;5493695 RH46200;UniSTS:490402 FLJ25590 OTTHUMP00000242557;putative uncharacterized protein C12orf61 protein-coding ENSG00000221949 26364 08070 PREDICTED 1606749 C12orf57 chromosome 12 open reading frame 57 12 12 12 p13.31 8671824 8673786 + 6923464 6925426 + 7053203 7055165 + 6480464 15489334;12477932;9445485;9074930;19204726;22939629;21890473;22505724;9224939 113246 F5GXW5;Q99622 ABBA01017669;AK310266;AK311912;AMYH01004212;BC009925;CH471116;NM_138425;U47924 AAB51329;AAH09925;BAG34853;EAW88705;NP_612434;Q99622 Hs.405913 2137943;2165198 RH11235;SHGC-31976 C10;FLJ17308;GRCC10;TEMTYS C10;OTTHUMP00000239933;OTTHUMP00000239934;OTTHUMP00000239935;likely ortholog of mouse gene rich cluster, C10;protein C10 protein-coding ENSG00000111678 29521 13609 218340;615140 PROVISIONAL 2302460 C12orf71 chromosome 12 open reading frame 71 12 12 12 p11.23 32380143 32381608 - 27125257 27126722 - 27233990 27235455 - 11181995 728858 A8MTZ7 ABBA01068044;AC092747;AMYH01004351;CH471094;NM_001080406 A8MTZ7;EAW96548;NP_001073875 Hs.334003 OTTHUMP00000240652;hCG1794298;hypothetical protein LOC728858;uncharacterized protein C12orf71 protein-coding ENSG00000214700 34452 INFERRED 1606152 C12orf60 chromosome 12 open reading frame 60 12 12 12 p12.3 20101493 20121778 + 14847773 14868059 + 14956506 14976792 + 6480464 15489334;12477932;14702039;23449627 144608 Q5U649 ABBA01067886;AC007655;AK056213;AK289942;AMYH01004303;BC015546;BC029443;BC038836;CH471094;NM_175874 AAH15546;AAH29443;AAH38836;BAF82631;EAW96330;NP_787070;Q5U649 Hs.659951 1698388;2143264;2190885;5022200 G41310;L18426;MARC_10307-10308:998934573:1;RH102736 FLJ31651;MGC47869 OTTHUMP00000236005;hypothetical protein LOC144608;uncharacterized protein C12orf60 protein-coding 28726 11358 VALIDATED 1603179 C12orf66 chromosome 12 open reading frame 66 12 12 12 q14.2 64251311 64281090 - 62872686 62902343 - 64586419 64616076 - 6480464 14702039;12477932;11752456 144577 F5H2Q3;J3KNH0;Q96MD2 ABBA01026612;AC012158;AK057111;AK095383;AK129933;AMYH01004542;AMYH01004543;AV653957;BC036246;BC071634;CH471054;NM_152440;W44639 AAH71634;BAB71367;EAW97124;NP_689653;Q96MD2 Hs.505871 1680555;1700006;2115694;2117039;2171642;5015404;5015861;5015879;5024039;5024413;5024756;7185938 A008W05;D10S16;D16S325;GDB:314949;L17705;L17877;RH103615;RH80030;RH98970;SHGC-32073;WI-18097 FLJ32549 OTTHUMP00000239362;OTTHUMP00000239363;OTTHUMP00000239364;UPF0536 protein C12orf66;hypothetical protein LOC144577 protein-coding ENSG00000174206 26517 08727 VALIDATED 1605601 C12orf65 chromosome 12 open reading frame 65 This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] 12 12 12 q24.31 123309422 123334084 + 122283416 122308459 + 123717844 123742506 + 6480464;7240710 20598281;14702039;12477932;22688947;17207965;21832049;23188110;22821833;21988832 91574 F5GWJ6;F5H4X5;F5H5V8;Q9H3J6 ABBA01060430;ABBA01060431;AC068768;AC073857;AF061733;AK025908;AK095982;AMYH01004837;BC018145;BC020885;BC062329;BI850864;BU507560;CH471054;NG_027517;NM_001143905;NM_001194995;NM_152269 AAG43144;AAH18145;AAH20885;AAH62329;ADQ32685;BAC04665;EAW98395;EAW98396;NP_001137377;NP_001181924;NP_689482;Q9H3J6 Hs.319128 1647433;1673153;2123703;5015619;5022578;5024039;5037552;5109281 D11S3114;D12S1445;D16S325;D1S1423;D1S1425;D8S2279;RH45719;STS-W93806 COXPD7;FLJ38663;SPG55 OTTHUMP00000239631;probable peptide chain release factor C12orf65, mitochondrial APPROVED protein-coding ENSG00000130921 26784 08791 613541;613559;615035 REVIEWED 1605794 C12orf68 chromosome 12 open reading frame 68 12 12 12 q13.11 47375335 47377425 + 46863666 46865976 + 48577366 48579709 + 11256614;16381901;15489336;14702039;12477932;21145461;11076863;20379614 387856 Q52MB2 ABBA01031477;AC074029;AK056003;AK056783;AMYH01004429;BC036801;BC049387;CH471111;DB483736;NM_001013635 AAH36801;BAB71071;BAB71283;CAL37738;EAW57977;NP_001013657;Q52MB2 Hs.251699 1849252;2183166 D12S1929;WI-21851 OTTHUMP00000242442;hypothetical protein LOC387856;uncharacterized protein C12orf68 protein-coding ENSG00000177875 33749 18375 VALIDATED 2303668 C12orf75 chromosome 12 open reading frame 75 12 12 12 q23.3 105388672 105429552 + 104154183 104289427 + 105724414 105765296 + 6480464 14702039;12477932;11890990;19322201;19531736;23419831 387882 F8VQD4;F8VXK5;F8W1S6;Q8TAD7 AB735446;AB735447;ABBA01053184;AC011313;AC078874;AC127900;AJ311377;AJ311378;AK056999;AMYH01004719;BC013920;BC045812;BC061920;BC067897;BC126980;BC127012;BC131552;BQ021766;CH471054;NM_001145199 AAH13920;AAH45812;AAH61920;AAH67897;AAI26981;AAI27013;BAM34484;CAC85391;CAC85392;EAW97765;EAW97766;NP_001138671;Q8TAD7 Hs.368938 1336679;1663085;5126705 D12S1597;SHGC-32919;STS-W19229 AGD3;MGC148100;MGC149157;OCC-1;OCC1 OTTHUMP00000242518;OTTHUMP00000242521;adipogenesis down-regulated 3;hypothetical protein LOC387882;overexpressed in colon carcinoma 1 protein;overexpressed in colon carcinoma-1;putative overexpressed in colon carcinoma-1 protein variant C;uncharacterized protein LOC387882 protein-coding ENSG00000235162 35164 17368 VALIDATED 2301389 C12orf73 chromosome 12 open reading frame 73 12 12 12 q23.3 104007750 104014765 - 102868647 102874911 - 104343980 104350993 - 14702039;12477932 728568 F8VQR3;F8VS87;F8VXG8;G3V1W1;Q69YU5 AA563681;ABBA01053210;AC078819;AK024037;AL359596;AMYH01004710;BC039467;BC044618;BC063467;BC073939;CH471054;FB746598;FB746692;NM_001135570 CAH10667;CAT04625;CAT04659;EAW97726;NP_001129042;Q69YU5 Hs.42547 1682283;1736258;2116292;2176613 D12S1216E;RH91861;STS-H98648;WI-22235 DKFZp547P055;FLJ13975 OTTHUMP00000242869;OTTHUMP00000242874;hypothetical protein LOC728568;uncharacterized protein C12orf73 protein-coding ENSG00000204954 34450 VALIDATED 1348423 C12orf9 chromosome 12 open reading frame 9 12063392 93669 AF393503 15949 2303686 C12orf74 chromosome 12 open reading frame 74 12 12 12 q22 92767866 92773448 + 91620971 91626196 + 93096619 93102325 + 12477932;16344560 338809 Q32Q52 ABBA01053392;AC016136;AMYH01004657;BC043363;BC043364;BC105728;BC107813;CH471054;DB196554;NM_001037671;NM_001178097 AAI05729;AAI07814;EAW97470;NP_001032760;NP_001171568;Q32Q52 Hs.326303 MGC125584 OTTHUMP00000242833;OTTHUMP00000242834;hypothetical protein LOC338809;uncharacterized protein C12orf74 protein-coding ENSG00000214215 27887 VALIDATED 1604429 C12orf76 chromosome 12 open reading frame 76 12 12 12 q24.11 110103217 110129734 - 108963366 108989883 - 110478983 110505500 - 6480464 14702039;12477932 400073 F8VV97;F8VYN6;F8VZK6;F8W0P4;F8W117;Q8N812 ABBA01005085;ABBA01005086;AC007546;AK021447;AK097461;AMYH01004738;BC041968;BC046185;BC133010;BC133012;NM_207435 AAI33011;AAI33013;BAC05063;NP_997318;Q8N812 Hs.44817 2145120;2148959 SHGC-57922;WI-14197 FLJ11385;FLJ40142 OTTHUMP00000240760;hypothetical protein LOC400073;uncharacterized protein C12orf76 protein-coding ENSG00000174456 33790 13443 PREDICTED 1601909 C13orf35 chromosome 13 open reading frame 35 13 13 13 q34 94126686 94164130 + 112349359 112386812 + 113301358 113338811 + 6480464 20858683 400165 Q6ZP68 ABBA01019850;AK129953;AL139384;AMYH01005388;CH471085;NM_207440 BAC85256;EAX09168;NP_997323;Q6ZP68 Hs.591213 1705772;1799226;1800278;1806840;1809974;1810206;1812116;1813192;1813684;1814000;1814376;1814504;1815020;1818250;1820014;1822540;1824348;1826280;1826352;1827068;1827174;1828090;1829078;1830086;1831230;1832778;1833392;1835274;1838652;1838942;1841630;1843376;1844248;1891500;1891502;1891504;1891506;1891508;1891510;1891512;1891514;1891516;1891518;1891520;1891522;1891524;1891526;1891528;1891530;1891532;1891534;1891536;1891538;1891540;1891542;1891544;1891546;1891548;1891550;1891552;1891554;1891556;1891558;1891560;1891562;1891564;1891566;1891568;1891570;1891572;1891574;1891576;1891578;1891580;1891582;1891584;1891586;1891588;1891590;1891592;1891594;1891596;1891598;1891600;1891602;1891604;1891606;1891608;1891610;1891612;1891614;1891616;1891618;1891620;1891622;1891624;1891626;1891628;1891630;1891632;1891634;1891636;1891638;1891640;1891642;1891644;1891646;1891648;1891650;1891652;1891654;1891656;1891658;1891660;1891662;1891664;1891666;1891668;1891670;1891672;1891674;1891676;1891678;1891680;1891682;1891684;1891686;1891688;1891690;1891692;1891694;1891696;1891698;1891700;1891702;1891704;1891706;1891708;1891710;1891712;1891714;1891716;1891718;1891720;1891722;1891724;1891726;1891728;1891730;1891732;1891734;1891736;1891738;1891740;1891742;1891744;1891746;1891748;1891750;1891752;1891754;1891756;1891758;1891760;1891762;1891764;1891766;1891768;1891770;1891772;1891774;1891776;1891778;1891780;1891782;1891784;1891786;1891788;1891790;1891792;1891794;1891796;1891798;1891800;1891802;1891804;1891806;1891808;2201888;2201890;2201892;2201894;2201896;2201898;2201900;2201902;2201904;2201906;2201908;2201910;2201912;2201914;2201916;2201918;2201920;2201922;2201924;2201926;2201928;2201930;2201932;2201934;2201936;2201938;2201940;2201942 ECD00461;ECD00997;ECD04385;ECD05979;ECD06095;ECD07063;ECD07616;ECD07865;ECD08027;ECD08217;ECD08282;ECD08541;ECD10182;ECD11079;ECD12358;ECD13272;ECD14252;ECD14289;ECD14649;ECD14702;ECD15168;ECD15666;ECD16176;ECD16751;ECD17530;ECD17839;ECD18792;ECD20500;ECD20650;ECD22012;ECD22896;ECD23337;REN16454;REN16455;REN16456;REN16457;REN16458;REN16459;REN16460;REN16461;REN16462;REN16463;REN16464;REN16465;REN16466;REN16467;REN16468;REN16469;REN16470;REN16471;REN16472;REN16473;REN16474;REN16475;REN16476;REN16477;REN16478;REN16479;REN16480;REN16481;REN16482;REN16483;REN16484;REN16485;REN16486;REN16487;REN16488;REN16489;REN16490;REN16491;REN16492;REN16493;REN16494;REN16495;REN16496;REN16497;REN16498;REN16499;REN16500;REN16501;REN16502;REN16503;REN16504;REN16505;REN16506;REN16509;REN16510;REN16511;REN16512;REN16513;REN16514;REN16515;REN16516;REN16517;REN16518;REN16519;REN16520;REN16521;REN16522;REN16523;REN16524;REN16525;REN16526;REN16527;REN16528;REN16529;REN16530;REN16531;REN16532;REN16533;REN16534;REN16535;REN16536;REN16537;REN16538;REN16539;REN16540;REN16541;REN16542;REN16544;REN16546;REN16547;REN16548;REN16549;REN16550;REN16551;REN16552;REN16553;REN16554;REN16555;REN16556;REN16557;REN16558;REN16559;REN16560;REN16561;REN16562;REN16563;REN16564;REN16565;REN16566;REN16567;REN16568;REN16569;REN16570;REN16571;REN16572;REN16573;REN16574;REN16575;REN16576;REN16577;REN16578;REN16579;REN16580;REN16581;REN16582;REN16583;REN16584;REN16587;REN16588;REN16589;REN16590;REN16591;REN16592;REN16593;REN16594;REN16595;REN16596;REN16597;REN16598;REN16599;REN16600;REN16601;REN16602;REN16603;REN16604;REN16605;REN16606;REN16607;REN16608;REN16609;REN16610;REN16611;REN16612;REN16613;REN16614;SHGC-78674;stSG621614;stSG621615;stSG621616;stSG621617;stSG621618;stSG621619;stSG621620;stSG621621;stSG621622;stSG621623;stSG621624;stSG621625;stSG621626;stSG621628;stSG621629;stSG621630;stSG621631;stSG621632;stSG621633;stSG621634;stSG621635;stSG621636;stSG621637;stSG621638;stSG621639;stSG621640;stSG621641;stSG621642 FLJ26443 OTTHUMP00000178855;putative uncharacterized protein C13orf35 protein-coding ENSG00000197595 33793 16926 PREDICTED 3479035 C12orf77 chromosome 12 open reading frame 77 12 12 12 p12.1 30293267 30297281 - 25037625 25041640 - 25146358 25150373 - 12477932 196415 C9JDV5;G3V1V6 ABBA01068014;AC023510;AMYH01004338;BC035880;BC046192;BC062789;CH471094;NM_001101339 C9JDV5;EAW96500;NP_001094809 Hs.434453 OTTHUMP00000243153;putative uncharacterized protein C12orf77 protein-coding ENSG00000226397 27282 VALIDATED 4889302 C13orf41 chromosome 13 open reading frame 41 13 13 q12.13 6754627 6779557 + 25691059 25716046 + 20379614;9294218 100288679 O00249 AL359757;U82306;U82311;XM_003403512;XM_003403658 AAB72230;AAB72232;CAH70806;O00249;Q5VX57;XP_003403560;XP_003403706 Hs.550143 1737429 D13S998 chromosome 13 open reading frame 41 protein-coding 39276 MODEL 1343911 C14orf113 chromosome 14 open reading frame 113 14 q32.2 94999563 95000262 - 54792 Q9NXV8 AK000041 BAA90900;Q9NXV8 Hs.675410 FLJ20034 protein-coding 20216 6901146 C13orf45 chromosome 13 open reading frame 45 13 q22.2 76445174 76457948 + 14702039 729420 F2Z398 ABBA01021651;AK092698;AL359392;AMYH01005215;NM_001257995 BAC03949;F2Z398;NP_001244924 Hs.586820 1737461;2189819;2189843 214f7REV;283a3FWD;D13S1016 uncharacterized protein C13orf45;uncharacterized protein LOC729420 protein-coding ENSG00000178734 44370 VALIDATED 7245856 C12orf79 chromosome 12 open reading frame 79 12477932;14702039 256021 F8VRL5;F8VVU4;G3V211 ABBA01053398;ABBA01053399;AC025164;AC123512;AF086029;AK055439;AMYH01004654;BC029844;BC107595;BC118985;BC122534;CA438667;CH471054;NM_001256373;NM_001256374;NM_001256375;NR_046159;NR_046160 EAW97463;NP_001243302;NP_001243303;NP_001243304 Hs.651357 1673364 RH78863 uncharacterized protein LOC256021 protein-coding ENSG00000257242 27409 VALIDATED 1352890 C14orf144 chromosome 14 open reading frame 144 14 q32.33 103775312 103780535 + 145195 Q96I85 AL590079;BC007749;XM_930354;XM_941225 AAH07749;Q96I85;XP_935447;XP_946318 Hs.679805 protein-coding 20358 7247020 C12orf80 chromosome 12 open reading frame 80 11181995;12477932;16344560 283403 ABBA01031628;AC021066;AMYH01004471;BC038743;BC117348;BC126393;CH471111;DB098376;DB339709;NM_001242696 EAW58238;NP_001229625 Hs.667179 uncharacterized protein LOC283403 protein-coding 27473 VALIDATED 1350524 C14orf16 chromosome 14 open reading frame 16 414762 19435 1350908 C14orf105 chromosome 14 open reading frame 105 14 14 14 q22.3 37986663 38010642 - 57006348 57030323 - 57936595 57960576 - 6480464 14702039;12477932;8125298;20379614 55195 E9PI50;E9PSE9;F5GWJ3;H0YES7;Q05C89;Q9NVL8 ABBA01018240;AK001512;AK223127;AK307238;AL161804;AL355834;AMYH01005753;BC028060;BC117405;BC143565;BC143566;BC143567;BC143568;BI760135;CH471061;NM_018168 AAH28060;AAI17406;AAI43567;AAI43568;ADR83122;BAA91732;BAD96847;EAW80706;EAW80707;NP_060638;Q9NVL8 Hs.659706 1706988;1726487;1774607;2145964;2186119 D8S370;G62623;RH46313;SHGC-56607;SHGC-80994 FLJ10650 OTTHUMP00000179017;OTTHUMP00000230653;OTTHUMP00000239180;hypothetical protein LOC55195;uncharacterized protein C14orf105 protein-coding ENSG00000100557 20189 12628 VALIDATED 1347248 C14orf164 chromosome 14 open reading frame 164 14 14 14 q11.2 3517267 3602270 + 22724385 22809408 + 23707127 23739568 + 11181995;12508121 100507650 A8MTL3;A8MVE6;G3V2N7;H0YJB3 ABBA01061317;ABBA01061318;AL049829;AL117258;AMYH01005603;CH471078;XM_003118918;XM_003119566;XM_003960547 A8MTL3;EAW66179;EAW66180;XP_003118966;XP_003119614;XP_003960596 1730024;1753775;2136544;2145495 D14S1430;D4S136;G36138;SHGC-89225 RING finger protein C14orf164;RING finger protein C14orf164-like;chromosome 14 open reading frame 164 protein-coding 20438 MODEL 1318068 C14orf151 chromosome 14 open reading frame 151 14 q32.33 104227003 104242191 + 12665801;12477932 84800 AL583722;BC006173;BX248757;CH471061;CR612331;NM_032714 AAH06173;CAD66564;EAW81872;NP_116103;Q86TR7;Q9BRM1 Hs.317821 MGC13251 protein-coding 20490 16611 1346081 C14orf142 chromosome 14 open reading frame 142 14 14 14 q32.12 73723243 73727465 - 92738990 92743212 - 93669237 93673459 - 6480464 15489334;12477932;22912744;22863883 84520 H0YJA8;Q9BXV9 ABBA01030435;AF277185;AL110118;AMYH01005965;BC021733;BC065216;BC107429;BC109390;BF131439;CH471061;NM_032490 AAH21733;AAH65216;AAI07430;AAI09391;AAK07544;EAW81519;EAW81520;NP_115879;Q9BXV9 Hs.20142 1651636;2123374 RH70184;STS-W90738 MGC104244;MGC133207;PNAS-127 OTTHUMP00000245675;OTTHUMP00000245676;hypothetical protein LOC84520;uncharacterized protein C14orf142 protein-coding ENSG00000170270 20356 16608 VALIDATED 1321865 C14orf1 chromosome 14 open reading frame 1 14 14 14 q24.3 56155336 56165643 - 75185884 75196912 - 76117233 76127538 - 6480464 10449901;11256614;16381901;16169070;15489336;15489334;12958361;12508121;12477932;11910120;11230166;11160377;11076863;11042152;10967139;10931946;16344560;23142642;21934552;21139048;21900206 11161 Q6FII3;Q86TW5;Q9UKR5 AA709128;ABBA01030697;AC007182;AF134159;AF136971;AF161406;AK311764;AL136658;AMYH01005860;BC002444;BX248022;CH471061;CR533443;DB030511;NM_007176 AAD51373;AAD54079;AAF28966;AAG49432;AAH02444;BAG34707;CAB66593;CAD62345;CAG38474;CAL38319;CAL38706;EAW81237;EAW81238;NP_009107;Q9UKR5 Hs.15106 1686790;1740639;2117883;5092672;5121853 A005P29;D14S1268;G32256;RH98534;SHGC-64295 ERG28;NET51 OTTHUMP00000246178;probable ergosterol biosynthetic protein 28 protein-coding 1187 05201 604576 VALIDATED 1318193 C14orf119 chromosome 14 open reading frame 119 14 14 14 q11.2 3427493 3432371 + 22634628 22639505 + 23564683 23569665 + 6480464 15489334;18029348;14702039;12477932;16169070;16344560;21906983 55017 Q9NWQ9 ABBA01061307;AF061731;AK000678;AK024794;AL117258;AMYH01005602;BC009645;BC056255;BC061637;CH471078;CR457248;DA605680;NG_030461;NM_017924 AAG43142;AAH09645;AAH56255;AAH61637;BAA91320;CAG33529;EAW66185;NP_060394;Q9NWQ9 Hs.525238;Hs.735365 1689261;5037552 D8S2279;RH8142 FLJ20671;FLJ21141;MGC74723 My028 protein;OTTHUMP00000164568;OTTHUMP00000246130;chromosome 14 open reading frame 119;uncharacterized protein C14orf119 protein-coding ENSG00000179933 20270 16595 VALIDATED 1350098 C14orf132 chromosome 14 open reading frame 132 14 14 14 q32.2 76561402 76615873 + 95575045 95630170 + 96505661 96560226 + 6480464 16344560;15489334;14702039;12477932;9110174;8619474;21697133 56967 Q9NPU4 AB621830;ABBA01048597;ABBA01048598;AF131832;AK001590;AK022021;AK025915;AK074462;AK313017;AL137190;AL390130;AMYH01005977;BC042922;BC043593;BC067267;CA434364;CH471061;DA328471;DA811354;NM_001252507 BAG35852;CAB99085;EAW81626;EAW81627;EAW81628;NP_001239436;Q9NPU4 Hs.6434;Hs.733033 1658192;1689420;1739413;1757259;1774885;2117160;2137893 D14S823E;D14S856;RH11213;RH91762;SHGC-144677;SHGC-53366;T16162 C14orf88;DKFZp761F2014;FLJ10728;FLJ93483 putative uncharacterized protein C14orf132;uncharacterized protein C14orf132 protein-coding 20346 16603 VALIDATED 1317046 C14orf169 chromosome 14 open reading frame 169 14 14 14 q24.3 54021934 54024395 + 73027397 73029858 + 73957644 73960105 + 737633;6480464 12477932 15489334;14742713;14702039;22750859;17308053;19615732;19927124 79697 Q9H6W3 ABBA01030758;AC005280;AK025455;AK299994;AMYH01005845;AY390535;BC011350;BC071954;DA509240;NM_024644 AAH11350;AAH71954;AAR27292;BAB15138;BAG61814;NP_078920;Q9H6W3 Hs.509916 1644664;2122577;2128152;2177870;5021694 G38173;SHGC-56451;STS-Z40969;WI-22498;ksks225 FLJ21802;MAPJD;NO66;ROX 60S ribosomal protein L8 histidine hydroxylase;MYC-associated protein with JmjC domain;OTTHUMP00000233252;bifunctional lysine-specific demethylase and histidyl-hydroxylase NO66;histone lysine demethylase NO66;hsNO66;lysine-specific demethylase NO66;nucleolar protein 66;ribosomal oxygenase NO66 protein-coding 20968 12641 611919 VALIDATED 1323376 C14orf159 chromosome 14 open reading frame 159 14 14 14 q32.11 71628800 71740164 + 90650110 90761456 + 91580357 91691703 + 6480464 16381901;16344560;15790807;15489336;15489334;14702039;12975309;12477932;11230166;11076863;8125298;20877624;21832049 80017 E5RFT5;E5RFZ6;E5RGN8;E5RGP9;E5RHG2;E5RIL4;E5RIU5;E5RJ62;E5RJ87;E5RJD1;E5RJL7;E5RK14;E5RK56;G8JLP2;H0YB09;H0YB11;H0YB62;Q4LE40;Q9H7G0 AB210031;ABBA01030482;ABBA01030483;ABBA01030484;ABBA01030485;ABBA01030486;ABBA01030487;AK022564;AK023200;AK024603;AK091394;AK097262;AK097294;AK098752;AK123532;AK222531;AK308857;AL121784;AL135818;AL602721;AMYH01005949;AMYH01005950;AMYH01005951;AY358516;AY927602;BC009182;BC010614;BC065558;BX161393;BX247989;BX248060;BX248294;BX248782;BX537970;BX642394;BX647492;CH471061;CR457289;DA296867;DA641301;DB258432;DR003467;NM_001102366;NM_001102367;NM_001102368;NM_001102369;NM_024952 AAH09182;AAH10614;AAH65558;AAQ88880;BAB14102;BAB14458;BAB14932;BAC03653;BAD96251;BAE06113;BAG53449;BAG53908;CAD61880;CAD62323;CAD62356;CAD62622;CAD66589;CAD97934;CAG33570;CAL37996;EAW81441;EAW81442;EAW81443;EAW81444;NP_001095836;NP_001095837;NP_001095838;NP_001095839;NP_079228;Q7Z3D6 Hs.309849 1647912;1656146;1707860;1725667;2116596;2120358;2124729;2131831;2148092;2155528;2157778;2158154;2166271;2185680;5113238;5121488 D14S1287;D14S593;D14S765;G35495;G35613;G35745;G35833;G36152;G36221;G36227;G36279;G62042;RH75013;SHGC-82165;STS-AA010373;WI-19880 C14orf160;DKFZp686I02128;FLJ20950;FLJ39943;FLJ39975 OTTHUMP00000228069;OTTHUMP00000228070;OTTHUMP00000228075;OTTHUMP00000228079;OTTHUMP00000228082;OTTHUMP00000228083;OTTHUMP00000228084;OTTHUMP00000228087;OTTHUMP00000228088;OTTHUMP00000228091;UPF0317 protein C14orf159, mitochondrial;hypothetical protein LOC80017;uncharacterized protein LOC80017 protein-coding ENSG00000133943 20498 16612 VALIDATED 1351641 C14orf166B chromosome 14 open reading frame 166B 14 14 14 q24.3 57331332 57375219 + 76362630 76406302 + 77292725 77336645 + 6480464 16344560;12477932;20379614 145497 B4DX10;G3V356;G3V5M6;H7BXD0;Q0VAA2;Q9Y628 ABBA01030669;ABBA01030670;AF111169;AK058106;AK125722;AK301762;AMYH01005870;AMYH01005871;AMYH01005872;BC062799;BC121159;BC121160;BC143896;CH471061;DB337977;DC397584;NM_194287 AAD44363;AAD44364;AAI21160;AAI21161;BAC86259;BAG63222;EAW81265;NP_919263;Q0VAA2 Hs.147276 1341109;1700940;1754123;2156881;7186436 D14S263;G36225;RH104097;SHGC-132157 OTTHUMP00000196473;hypothetical protein LOC145497;uncharacterized protein C14orf166B protein-coding ENSG00000100565 23346 12621 VALIDATED 1603813 C14orf181 chromosome 14 open reading frame 181 14 14 14 q24.1 49320211 49321937 - 68331217 68332943 - 69261464 69263190 - 14702039;19430480;20378605;20379614 400223 AK097098;AL132986;BP397993;CH471061;NM_207442 AAI48846;AAI52899;BAC04948;EAW80970;NP_997325;Q8N8A1 Hs.655774 FLJ39779 putative uncharacterized protein C14orf181 protein-coding 33794 13439 VALIDATED 1602424 C14orf183 chromosome 14 open reading frame 183 14 14 14 q21.3 30417514 30426499 - 49620119 49629111 - 50550369 50559361 - 196913 Q8WXQ3 ABBA01018130;AF390030;AL109758;AMYH01005718;CH471078;NM_001014830 AAL58840;EAW65733;EAW65734;NP_001014830;Q8WXQ3 Hs.406934 1757163 SHGC-144589 OTTHUMP00000244572;putative uncharacterized protein C14orf183 APPROVED protein-coding ENSG00000168260 27285 18572 PREDICTED 1603812 C14orf180 chromosome 14 open reading frame 180 14 14 14 q32.33 85102104 85112230 + 104117101 104127228 + 105046056 105056183 + 6480464 14702039;12477932;23029450 400258 G3V2Z8;J3KNP8;Q8N912 ABBA01002996;AK095913;AK297818;AK309489;AMYH01006062;BC041103;BX161457;BX337634;BX927359;CH471061;NM_001008404 AAH41103;BAC04645;BAG60155;CAD61919;EAW81864;EAW81865;NP_001008404;Q8N912 Hs.153827 2124333 RH41919 C14orf77;FLJ38594;NRAC OTTHUMP00000028407;OTTHUMP00000244505;OTTHUMP00000244506;OTTHUMP00000244507;nutritionally-regulated adipose and cardiac enriched protein homolog;nutritionally-regulated adipose and cardiac-enriched;transmembrane protein C14orf180 protein-coding 33795 17383 PROVISIONAL 2859192 C14orf184 chromosome 14 open reading frame 184 14 14 14 q32.12 72087405 72090000 - 91108541 91111136 - 92038788 92041383 - 14702039 650662 AF318368;AK091161;AL133373;NM_001080113 AAL55875;NP_001073582;Q8WYT3 Hs.638530 FLJ33842;PP8961 putative uncharacterized protein C14orf184 protein-coding 37224 VALIDATED 1350643 C14orf22 chromosome 14 open reading frame 22 q12 387977 AI278049;N48783 Hs.143441 1776471 SHGC-37332 protein-coding 19827 1348871 C14orf26 chromosome 14 open reading frame 26 q21.1 8889549 400208 AA029430;AK125955 Hs.660501 2187138 STS-AA029430 protein-coding 19831 1312305 C14orf166 chromosome 14 open reading frame 166 14 14 14 q22.1 32323222 32338419 + 51525943 51541158 + 52456228 52471420 + 6480464 15147888;19152423;15635413;15489334;12477932;11507205;10810093;1602151;18685082;21145461;17643375;22863883;22939629;23022380;21900157;18029348;16950395;17043677;21823664;21987572;21628590;21139048;21890473;21906983;22354994;22053931;22174317;22505724 51637 G3V4C6;G3V4E7;H0YJB9;Q549M8;Q9Y224 ABBA01018162;AF087877;AF100755;AF151857;AK312004;AL358333;AMYH01005728;AY817175;BC001722;BF594675;CH471078;DQ525179;NM_016039 AAD34094;AAD43019;AAH01722;AAP97177;AAV54070;ABF56619;ABZ92335;BAG34942;EAW65659;EAW65660;EAW65661;NP_057123;Q9Y224 Hs.534457 1652108;1667507;1695112;1753993;2135439;5109761 D14S1197;D14S1201;D14S643E;G48195;HUM0S17C09;SHGC-132026 CGI-99;CGI99;CLE;CLE7;LCRP369;RLLM1 CLE7 homolog;OTTHUMP00000178984;OTTHUMP00000245063;RLL motif containing 1;UPF0568 protein C14orf166;homeobox prox 1 protein-coding ENSG00000087302 23169 16615 610858 VALIDATED 1352241 C14orf23 chromosome 14 open reading frame 23 14 14 14 q12 9107404 9129488 + 28311742 28317517 + 29241910 29264000 + 16341674;20802204 387978 F8VQW4;F8VZL1;Q86U37 ABBA01061377;AI204146;AL049777;AMYH01005630;BM839073;BX111279;BX248251;NR_026731;NR_026732 CAD62579;Q86U37 Hs.633254 1334576;1736448;2133081;2140526;2144955;5014051;5015619;5037552;5093298 A004D23;A009L03;D11S3114;D14S1042;D14S709E;D14S835;D8S2278;D8S2279;G32636 c14_5148 miscrna ENSG00000186960 19828 PREDICTED 1351913 C14orf30 chromosome 14 open reading frame 30 161342 BG121773 19838 1347710 C14orf38 chromosome 14 open reading frame 38 122847 P0C221 AB069994 1648155;1852486 AFM344VD1;G36035 19847 1606667 C14orf178 chromosome 14 open reading frame 178 14 14 14 q24.3 58265685 58274587 + 77296646 77305838 + 78227173 78236085 + 15489334;14702039;12477932 283579 F8WAD5;Q8N769 ABBA01030643;AC008372;AK098842;AMYH01005884;BC107147;BC113929;BC113986;NM_001173978;NM_174943 AAI13930;BAC05432;NP_001167449;NP_777603;Q8N769 Hs.375834 FLJ25976;MGC129942 OTTHUMP00000246317;hypothetical protein LOC283579;uncharacterized protein C14orf178 protein-coding ENSG00000197734 26385 08080 VALIDATED 1606666 C14orf177 chromosome 14 open reading frame 177 14 14 14 q32.2 79233707 79239856 + 98247703 98253850 + 99177950 99184103 + 12477932;14702039;15489334;17903294;23118302;23251661 283598 F5GYC5;Q52M58 ABBA01048573;AK098639;AL096821;AMYH01005984;BC093661;CH471061;DB523204;NM_182560 AAH93661;BAC05361;EAW81658;EAW81659;NP_872366;Q52M58 Hs.448754 5493237 UniSTS:485416 FLJ25773 OTTHUMP00000236739;OTTHUMP00000236740;chromosome 14 open reading frame 177;hypothetical protein LOC283598;putative uncharacterized protein C14orf177 protein-coding ENSG00000176605 26375 08075 PREDICTED 1347411 C14orf40 chromosome 14 open reading frame 40 319109 BE348955 19850 1342722 C14orf42 chromosome 14 open reading frame 42 161380 BF109853 19852 1346214 C14orf51 chromosome 14 open reading frame 51 338000 20098 1344999 C14orf41 chromosome 14 open reading frame 41 q24.3 14702039 440187 AK055876;BG654811 Hs.525443 c14_5527 protein-coding 19851 1344838 C14orf56 chromosome 14 open reading frame 56 14 q24.2 70746487 70827890 - 14702039 89919 AC004817;AC005476;AK024445;XM_001715980;XM_001716301;XM_001718387 BAB15735;Q9H7N3;XP_001716032;XP_001716353;XP_001718439 Hs.551210 1643818;1715777;2112920;2130197 D14S1418;G38302;G38312;RH119337 FLJ00035 protein-coding 20103 1348818 C14orf57 chromosome 14 open reading frame 57 11483580 317787 CH471061 EAW81073;Q9H367 chromosome 14 open reading frame 57 protein-coding 20104 1343204 C14orf60 chromosome 14 open reading frame 60 338001 20107 1348359 C14orf62 chromosome 14 open reading frame 62 317786 20109 1343261 C14orf67 chromosome 14 open reading frame 67 196860 20114 1353145 C14orf7 chromosome 14 open reading frame 7 378821 AI027773 19284 1603254 C14orf182 chromosome 14 open reading frame 182 14 14 14 q21.3 30315522 30341351 - 49518180 49543988 - 50448430 50474238 - 14702039;12477932;20379614 283551 A1A4T8;Q8NF59 ABBA01018127;AK090420;AK091232;AL117692;AMYH01005717;BC058283;BC128083;BC144351;CH471078;NM_001012706 A1A4T8;AAI28084;AAI44352;BAC03401;EAW65738;NP_001012724 Hs.660867 2181654;5037552 D8S2279;G35624 MGC149108 OTTHUMP00000236540;hypothetical protein LOC283551;uncharacterized protein C14orf182 protein-coding ENSG00000214900 27503 13397 VALIDATED 1354345 C14orf77 chromosome 14 open reading frame 77 145323 20124 1352128 C14orf2 chromosome 14 open reading frame 2 14 14 14 q32.33 84432866 84442144 - 103448380 103457619 - 104378625 104387903 - 1298632;6480464 9653160 17286855;16344560;15489334;12477932;11042152;16712791;21890473 9556 G3V556;P56378 ABBA01048397;ABBA01048398;ABBA01048399;AF054175;AF116639;AK309355;AK309499;AK310120;AK312099;AL132712;AMYH01006054;BC000429;BC001944;BC047289;BC063419;BX161388;CB127906;CH471061;DA526965;DQ426862;NM_001127393;NM_004894 AAC39909;AAF71062;AAH00429;AAH01944;BAG35035;CAD61878;EAW81849;EAW81850;EAW81851;EAW81852;NP_001120865;NP_004885;P56378 Hs.109052 1683659;1739807;2136695;2148098;2162277;5037552 D14S894E;D8S2279;G35411;G35502;RH75092;SHGC-36470 MP68;PLPM 6.8 kDa mitochondrial proteolipid;OTTHUMP00000246570;OTTHUMP00000246571;OTTHUMP00000246573;OTTHUMP00000246575 protein-coding ENSG00000156411 1188 05199 604573 VALIDATED 1353513 C14orf81 chromosome 14 open reading frame 81 153514 20128 1316923 C14orf28 chromosome 14 open reading frame 28 14 14 14 q21.2 25227762 25237715 + 44436257 44446210 + 45366507 45376460 + 6480464 16341674;15489334;12477932;20874815 122525 G3V4G8;Q4W4Y0 ABBA01018043;AF250395;AK126985;AL049870;AMYH01005701;BC030258;BC105030;BC105032;BM849739;BU624091;CH471078;NM_001017923 AAH30258;AAI05031;AAI05033;AAQ14261;EAW65796;NP_001017923;Q4W4Y0 Hs.82098 1663550 G23875 DRIP-1;DRIP1;c14_5270 OTTHUMP00000244259;OTTHUMP00000244260;dopamine receptor interacting protein 1;dopamine receptor-interacting protein 1;hypothetical protein LOC122525;uncharacterized protein C14orf28 protein-coding ENSG00000179476 19834 18544 VALIDATED 1352699 C14orf88 chromosome 14 open reading frame 88 91813 20135 1350418 C14orf39 chromosome 14 open reading frame 39 14 14 14 q23.1 40952829 41002917 - 59972428 60022502 - 60902674 60952764 - 15703187;14702039;12477932;23396134 317761 G3V257;G3V3U9;G3V493;H0YJQ0;Q8N1H7 ABBA01018281;ABBA01018282;AK098187;AL122057;AL132778;AL832219;AMYH01005766;BC125070;BC125071;CH471061;DB447488;EB388156;NM_174978 AAI25071;BAC05253;EAW80780;EAW80781;NP_777638;Q8N1H7 Hs.335754 MGC149706;Six6os1 OTTHUMP00000179039;protein SIX6OS1;six6 opposite strand transcript 1 protein-coding ENSG00000179008 19849 08504 VALIDATED 1354469 C14orf91 chromosome 14 open reading frame 91 51217 AF113687 20138 1352318 C14orf95 chromosome 14 open reading frame 95 338003 20158 1354202 C15orf13 chromosome 15 open reading frame 13 170479 18112 1351050 C14orf99 chromosome 14 open reading frame 99 14 106288309 106289452 - 317730 1680220 RH67822 20170 1351933 C14orf37 chromosome 14 open reading frame 37 14 14 14 q23.1 38520760 38668792 - 57540561 57688600 - 58470808 58618847 - 6480464 15489334;12477932;20379614 145407 Q86TY3 ABBA01018244;ABBA01018245;ABBA01018246;ABBA01018247;AK292513;AK292605;AK294599;AL049838;AL121579;AMYH01005756;BC013707;BC062772;BC146861;BX161411;BX161448;BX649130;CH471061;NM_001001872 AAH62772;AAI46862;BAF85202;BAF85294;BAG57786;CAD61887;CAD61913;EAW80712;EAW80713;NP_001001872;Q86TY3 Hs.535420 1708742;1710144;1855619;2114481;2129958;2162539 G35522;RH44675;RH69498;SHGC-36423;SHGC-81560;SHGC-81588 c14_5376 OTTHUMP00000245308;hypothetical protein LOC145407;uncharacterized protein C14orf37 protein-coding 19846 10712 PREDICTED 1353443 C15orf31 chromosome 15 open reading frame 31 8228263 L17330 21692 1353623 C14orf64 chromosome 14 open reading frame 64 14 14 14 q32.2 78447769 78500269 - 98391947 98444461 - 98391947 98444461 - 14702039;12477932 388011 H0YJ13;H0YJ23;H0YJ28;H0YJB0;H0YJM9;H0YJQ2 ABBA01048576;AK091668;AK097943;AL352981;AMYH01005982;BC043585;BX647564;JX073283;NR_015430 Hs.651477 1771118;5014051;5015619;5022578;5022649;5037552 D11S2875;D11S3114;D14S138;D1S1423;D8S2278;D8S2279 miscrna ENSG00000246223 20111 PREDICTED 1322363 C14orf80 chromosome 14 open reading frame 80 14 14 14 q32.33 86009230 86017442 + 105028749 105036610 + 105956192 105965585 + 6480464 14702039;12477932;20562859;22505724 283643 C9IYA4;C9J1F2;C9J317;C9J6B2;C9JZ80;C9K0G6;F8VP51;Q86SX3 ABBA01008881;AK024506;AL928654;AMYH01006084;AW236560;BC016028;BX161477;BX248038;BX248074;BX248283;CH471061;NM_001134875;NM_001134876;NM_001134877;NM_001198983 AAH16028;ADZ15892;BAB15796;CAD61932;CAD62351;CAD62363;CAD62611;EAW81929;NP_001128347;NP_001128348;NP_001128349;NP_001185912;Q86SX3 Hs.720306 1661583;2144202;5022588 D5S1597E;RH48485;RH65096 MGC16771 OTTHUMP00000028466;OTTHUMP00000163912;OTTHUMP00000163913;OTTHUMP00000163914;OTTHUMP00000211269;OTTHUMP00000211271;OTTHUMP00000243774;OTTHUMP00000243775;hypothetical protein LOC283643;uncharacterized protein C14orf80 protein-coding ENSG00000185347 20127 12658 VALIDATED 1321239 C15orf26 chromosome 15 open reading frame 26 15 15 15 q25.1 58364060 58378932 + 79213699 79228571 + 81426644 81441516 + 737633;6480464 12477932 15489334;14702039 161502 H0YM05;H0YNS7;Q6P656 ABBA01060635;AC036196;AC068870;AK095934;AK302120;AK307565;AMYH01006852;AMYH01006853;BC062471;CH471136;NM_173528 AAH62471;BAC04653;BAG63498;EAW99102;EAW99103;EAW99104;NP_775799;Q6P656 Hs.130979 FLJ38615 hypothetical protein LOC161502;uncharacterized protein C15orf26 protein-coding ENSG00000156206 26782 08243 PREDICTED 5013871 C15orf38-AP3S2 C15orf38-AP3S2 readthrough This locus represents naturally occurring read-through transcription between the neighboring C15orf38 (chromosome 15 open reading frame 38) and AP3S2 (adaptor-related protein complex 3, sigma 2 subunit) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 15 q 90373831 90456222 - 6480464 20967262;20585627;21874001 100526783 H0YL85;H0YMK0;H0YN38 ABBA01053027;ABBA01053028;ABBA01053029;ABBA01053030;ABBA01053031;AC018988;AC027176;AK000495;AMYH01006918;AMYH01006919;NM_001199058 NP_001185987 Hs.6734 1767579;2112970;2165051;2183352;5016851;5022200;5022578;5022651;5037552 D11S2921;D15S1443E;D1S1423;D8S2279;L18426;RH11326;RH80031;WI-15468;WI-20835 FLJ20488 C15orf38-AP3S2 fusion protein;OTTHUMP00000221441 APPROVED protein-coding 38824 VALIDATED 1316438 C14orf79 chromosome 14 open reading frame 79 14 14 14 q32.33 85506829 85516068 + 104523661 104532900 + 105452616 105461855 + 6480464 12477932;16112646;15489334;14702039;12508121;9110174;8619474 122616 F8VUA8;H0YHP6;J3KPM0;J3KRA4;Q96F83 ABBA01008850;AF038188;AK057249;AL512802;AMYH01006073;BC003539;BC011537;BC025175;BC137495;BC144671;CH471061;NM_174891 AAH03539;AAI37496;EAW81890;EAW81891;EAW81892;NP_777551;Q96F83 Hs.27183 1649982;1682850;1736422;5092954 A009C47;D14S683E;G32433;RH91739 OTTHUMP00000243899;OTTHUMP00000243900;hypothetical protein LOC122616;uncharacterized protein C14orf79 protein-coding 20126 12656 VALIDATED 1603158 C15orf37 chromosome 15 open reading frame 37 15 15 15 q25.1 57151419 57153502 + 78002168 78004249 + 80215113 80217196 + 6480464 14702039;12477932 283687 Q8NBB2;Q96AL6 ABBA01060616;AC015871;AK091107;AK092679;AMYH01006846;BC016975;BC101201;BC101202;BC101203;BG677098;NR_028330 AAH16975;AAI01202;AAI01203;AAI01204;BAC03584;Q8NBB2 Hs.722219 2220658;5037552 D8S2279;UniSTS:487268 FLJ33788 miscrna ENSG00000257028;ENSG00000259642 27521 14147 VALIDATED 1351477 C15orf27 chromosome 15 open reading frame 27 15 15 15 q24.2 53278201 53423401 + 74139354 74284359 + 76352299 76497304 + 6480464 16572171;16344560;15489334;15342556;14702039;12477932;22020278 123591 H0YNC9;H3BM28;Q2M3C6 ABBA01060546;AC091100;AK054866;AK058126;AK095509;AK308676;AMYH01006820;BC104953;BC104955;BP369654;BQ009353;BX398159;CH471136;DA090797;DA483185;DR007145;NM_152335 AAI04954;AAI04956;BAB71676;BAC04562;BAG51435;EAW99224;EAW99225;NP_689548;Q2M3C6 Hs.661411 1757883;1783176;1783220 SHGC-112468;SHGC-146755;SHGC-153295 FLJ30304;FLJ38190 OTTHUMP00000183577;transmembrane protein C15orf27 protein-coding ENSG00000169758 26763 08235 VALIDATED 1606452 C15orf32 chromosome 15 open reading frame 32 15 15 15 q26.1 69426755 69456192 + 90815911 90845351 + 93014907 93044347 + 17903307;15489334;14702039;12477932;21529783;20386566 145858 Q32M92 ABBA01053091;AC090985;AK057393;AMYH01006930;BC109252;BC109253;CH471101;FJ515837;HC044857;NM_153040 AAI09253;AAI09254;ACS13729;BAB71467;CBH30758;EAX02151;NP_694585;Q32M92 Hs.367879 1769670;5124182 G17849;RH98365 FLJ32831;MGC129836;MGC129837 OTTHUMP00000194775;hypothetical protein LOC145858;uncharacterized protein C15orf32 protein-coding ENSG00000183643 26549 08143 PREDICTED 1348927 C14orf93 chromosome 14 open reading frame 93 14 14 14 q11.2 3319000 3342250 - 22525951 22549192 - 23456110 23479360 - 6480464 18029348;16344560;15489334;14702039;12477932;21832049;21693764;21890473 60686 G3V2P0;G3V2U2;G3V396;G3V3W0;G3V4F1;G3V4L9;G3V4W6;G5E9D9;J3KPV9;Q9H972 ABBA01061298;ABBA01061299;ABBA01061300;ABBA01061301;AK022216;AK023026;AL132780;AMYH01005601;AMYH01005602;BC014299;BX161383;BX161417;BX161474;BX161507;CH471078;DA818572;NM_001130706;NM_001130708;NM_021944 AAH14299;BAB13988;BAB14363;CAD61874;CAD61892;CAD61930;CAD61946;EAW66196;EAW66197;EAW66198;EAW66199;EAW66200;EAW66201;EAW66202;EAW66203;NP_001124178;NP_001124180;NP_068763;Q9H972 Hs.255874 1672048;1728477;2117918 AFMB073ZC5;G63676;SHGC-31862 FLJ12154 OTTHUMP00000164561;OTTHUMP00000164562;OTTHUMP00000164563;OTTHUMP00000164564;OTTHUMP00000164565;OTTHUMP00000164566;OTTHUMP00000164567;hypothetical protein LOC60686;uncharacterized protein C14orf93 protein-coding ENSG00000100802 20162 12662 VALIDATED 1602786 C15orf45 chromosome 15 open reading frame 45 15 q13.3 30749667 30750065 + 14702039 641318 Q96MF0 AK057017;NM_001035530 BAB71345;NP_001030607;Q96MF0 Hs.671908 FLJ32455 protein-coding 32364 1604167 C15orf38 chromosome 15 open reading frame 38 15 15 15 q26.1 66846848 66859238 - 88244836 88257163 - 90443832 90456222 - 6480464 16344560;15489334;14702039;12477932;17207965;20585627;21139048 348110 H0YL03;H0YMP5;Q7Z6K5 ABBA01053029;ABBA01053030;ABBA01053031;AC027176;AK093274;AMYH01006919;BC053602;CH471101;DB285255;NM_182616 AAH53602;ADQ32596;EAX02077;EAX02078;NP_872422;Q7Z6K5 Hs.6734 2111180 D15S223E MGC61550 OTTHUMP00000205867;UPF0552 protein C15orf38;hypothetical protein LOC348110 protein-coding 28782 14697 VALIDATED 1605267 C15orf51 chromosome 15 open reading frame 51 15 15 15 q26.3 76749299 76760211 - 98147884 98164655 - 100330361 100347132 - 15008788;12477932 196968 Q8NDG8 AC090825;AK127834;AK302717;AL833912;BC101078;BC101080;BC101081;NR_003260 BAC87154;BAG63937;CAD38768;Q6ZS02;Q8NDG8 Hs.567763;Hs.585319 DKFZp434I1020;FLJ45937;FLJ54911;MGC119618 pseudo 25290 13192 1607000 C15orf41 chromosome 15 open reading frame 41 15 15 15 q14 13631911 13862498 + 34720098 34889739 + 36871812 37102449 + 6480464 17353931;16344560;15489334;12477932;17207965;19913121;20628086;21906983 84529 H3BMD3;H3BNF9;H3BRH2;H3BS01;H3BTL3;Q9Y2V0 ABBA01038496;ABBA01038497;AC007429;AC013640;AC019016;AC103988;AF114263;AK026504;AK315446;AMYH01006547;AMYH01006548;BC006254;BC042750;BX647650;CH471125;DA467314;DA534917;NM_001130010;NM_032499 AAD29606;AAH06254;ADQ32816;BAG37834;EAW92336;EAW92337;EAW92338;NP_001123482;NP_115888;Q9Y2V0 Hs.48348 1339904;1663261;1751897;1753133;1772473;2141569;2141738;2171617;2219132 D15S1266;G17854;GATA50C03;HH114__6715;SGC38378;SHGC-105791;SHGC-109985;WI-13895;WI-18117 FLJ22851;HH114;MGC11326 hypothetical protein LOC84529;uncharacterized protein C15orf41 protein-coding ENSG00000186073 26929 13650 VALIDATED 1604333 C15orf39 chromosome 15 open reading frame 39 15 15 15 q24.2 52445013 52455302 + 73281274 73291563 + 75494221 75504510 + 6480464 16344560;15498874;15489334;14702039;12477932;11230166;8889548;16169070;21832049;19471022;21693764;21890473;22505724 56905 H3BMJ2;H3BN41;H3BRS2;H3BT66;Q6ZRI6 ABBA01060519;AC113208;AF063593;AF143881;AF495726;AK056589;AK057025;AK123746;AK125111;AK125604;AK128205;AL109730;AL117540;AL360143;AL834382;AMYH01006804;BC000540;BC001762;BC006207;BC011379;BC011905;BC051235;BC109195;BC110367;BM684714;CH471136;CR533482;DA720113;NM_015492 AAG43152;AAH01762;AAH11379;AAH11905;AAH51235;AAI09196;AAI10368;AAQ06680;BAC86215;BAC87324;BAG54145;CAB55985;CAB96089;CAD39045;CAG38513;EAW99272;EAW99273;NP_056307;Q6ZRI6 Hs.17936 2117893;2158936;2166562;2175460 D15S617E;HSC0NH062;RH45074;STS-T53273 DKFZp434H132;FLJ46337;MGC117209 OTTHUMP00000183481;hypothetical protein LOC56905;uncharacterized protein C15orf39 protein-coding ENSG00000167173 24497 13154 VALIDATED 1604247 C15orf40 chromosome 15 open reading frame 40 15 15 15 q25.2 60906250 60928927 + 81464408 81471362 - 83657715 83680393 - 6480464 16368877;15489334;15146197;14702039;12477932;8889548;16751776;21139048;21890473 123207 H0Y996;H0Y9H8;H0YAC3;H3BM85;H3BMR1;H3BQZ5;Q8WUR7 AA905778;ABBA01029433;AC022558;AI239480;AJ705316;AK125586;AK311484;AK312160;AL602775;AMYH01006858;AW105048;BC019820;BE906569;BQ013375;BQ185982;BY800475;CH471188;CN347153;DC428269;DQ573071;DW416709;NM_001160113;NM_001160114;NM_001160115;NM_001160116;NM_144597;NR_027649;NR_027650 AAH19820;BAG35094;EAW62431;EAW62432;NP_001153585;NP_001153586;NP_001153587;NP_001153588;NP_653198;Q8WUR7 Hs.352541 1680793;1700694;2107375;2120780;2143588;5015961;5020948;5022322;5037552 D11S2560;D15S1477;D8S2279;G35510;MGC29937__7701;RH103970;RH41989;RH65049;STS-N36410 FLJ33606;MGC29937 OTTHUMP00000218276;UPF0235 protein C15orf40;hypothetical protein LOC123207 protein-coding ENSG00000169609 28443 14538 VALIDATED 1606959 C15orf43 chromosome 15 open reading frame 43 15 15 15 q21.1 22140500 22163021 + 43036192 43058713 + 45248900 45271421 + 15489334;12477932;21832049 145645 H0YKV2;H0YNH3;Q8NHR7 ABBA01039190;AC090888;AMYH01006615;BC029537;CH471082;HC007150;NM_152448 AAH29537;ABM81909;ABM85084;CBH19380;EAW77283;NP_689661;Q8NHR7 Hs.567701 1732457 D15S517 MGC33951 OTTHUMP00000161938;hypothetical protein LOC145645;uncharacterized protein C15orf43 protein-coding ENSG00000167014 28520 17528 VALIDATED 1601736 C15orf48 chromosome 15 open reading frame 48 This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jun 2012] 15 15 15 q21.1 22614182 22617066 + 43510055 43512939 + 45722727 45725647 + 6480464 12209954;18636205;16434596;15489334;12477932;20877624;22464673 84419 H0YKW5;Q9C002 AA493534;AB026707;ABBA01039183;AC025580;AF228422;AK026298;AMYH01006618;BC021173;BM312626;CA865860;CH471082;CS300715;DB447060;NM_032413;NM_197955 AAH21173;AAK00708;ABM82120;ABM85294;BAB61021;CAK32379;EAW77312;EAW77313;NP_115789;NP_922946;Q9C002 Hs.112242 1651349 RH106 FLJ22645;FOAP-11;MGC32925;NMES1 OTTHUMP00000162117;normal mucosa of esophagus specific 1;normal mucosa of esophagus-specific gene 1 protein APPROVED protein-coding ENSG00000166920 29898 16332 608409 REVIEWED 1602266 C15orf52 chromosome 15 open reading frame 52 15 15 15 q15.1 17389636 17399151 - 38410945 38420460 - 40623653 40633168 - 6480464 16344560;12477932;8889548 388115 H0YK65;H0YM82;Q6ZUT6 ABBA01038453;AC013356;AK124643;AK125329;AK126035;AK126485;AMYH01006560;BC015670;BC140897;BC140902;BM716672;BQ690903;BU618720;CH471125;CR749408;DA106198;DA892533;NM_207380 AAI40898;AAI40903;BAC86132;BAC86405;CAH18251;EAW92404;EAW92405;NP_997263;Q6ZUT6 Hs.32433 2177066;2191445;5123933 MARC_23447-23448:1027106168:1;RH78611;WI-16206 DKFZp686N1468;FLJ43339 OTTHUMP00000198225;flj43339 protein;hypothetical protein LOC388115;uncharacterized protein C15orf52 protein-coding 33488 16964 VALIDATED 2302457 C15orf61 chromosome 15 open reading frame 61 15 15 15 q23 44701061 44707180 + 65599954 65606035 + 67813522 67819641 + 6480464 16572171;14702039;8889548 145853 A6NNL5;H0YN13 ABBA01038799;AC016355;AK294012;AMYH01006733;AY726587;BM664696;CH471082;CK903599;NM_001143936 A6NNL5;BAG57373;EAW77798;NP_001137408 Hs.438385 FLJ59587 hypothetical protein LOC145853;uncharacterized protein C15orf61 protein-coding ENSG00000189227 34453 VALIDATED 1601684 C15orf53 chromosome 15 open reading frame 53 15 15 15 q14 15755804 15759245 + 36776091 36779531 + 38988799 38992239 + 19488044;18711365;14702039;12477932;20351715;21926972 400359 Q8NAA6 ABBA01038476;AC104261;AK093014;AMYH01006553;BC119016;BC119810;CH471125;NM_207444 AAI19017;AAI19811;BAC04019;EAW92373;NP_997327;Q8NAA6 Hs.448785 FLJ35695;MGC148119 OTTHUMP00000160278;hypothetical protein LOC400359;uncharacterized protein C15orf53 protein-coding ENSG00000175779 33796 13418 VALIDATED 2298735 C15orf59 chromosome 15 open reading frame 59 15 15 15 q24.1 50911962 50923642 - 71819194 71830869 - 74032141 74043816 - 6480464 12477932 388135 H0YKG6;Q2T9L4 ABBA01038707;AC022188;AMYH01006777;BC111368;NM_001039614 AAI11369;NP_001034703;Q2T9L4 Hs.40794 1789110;2152964 G65689;WI-21596 MGC131524 UPF0583 protein C15orf59;hypothetical protein LOC388135 protein-coding ENSG00000205363 33753 PREDICTED 1601683 C15orf54 chromosome 15 open reading frame 54 15 15 15 q14 16304366 16308529 + 37330211 37334340 + 39542885 39547048 + 6480464 14702039;12477932;21348951 400360 Q8N8G6 ABBA01038472;AC013652;AK096850;AMYH01006555;BC137300;BC137301;BC171789;BX647708;CH471125;NM_207445 AAI37301;AAI37302;AAI71789;BAC04876;EAW92378;NP_997328;Q8N8G6 Hs.376109 FLJ39531 OTTHUMP00000160280;putative uncharacterized protein C15orf54 protein-coding ENSG00000175746 33797 13437 VALIDATED 1345370 C16orf10 chromosome 16 open reading frame 10 p13.3 64493 AW298011 protein-coding 14138 1351577 C16orf12 chromosome 16 open reading frame 12 64491 14140 7245658 C15orf65 chromosome 15 open reading frame 65 145788 H3BRN8 ABBA01039025;AC013355;AK130862;AMYH01006666;AV735277;BX648577;CH471082;NM_001198784 EAW77489;NP_001185713 Hs.97300 1688096;2184087 RH92020;WI-18393 uncharacterized protein LOC145788 protein-coding ENSG00000261652 44654 VALIDATED 1344697 C16orf15 chromosome 16 open reading frame 15 64488 14143 1353125 C16orf16 chromosome 16 open reading frame 16 64487 14144 1351241 C16orf17 chromosome 16 open reading frame 17 64486 14145 1347842 C16orf18 chromosome 16 open reading frame 18 64485 14146 2289749 C15orf56 chromosome 15 open reading frame 56 15 15 15 q15.1 17308841 17311083 - 38330160 38332402 - 40542868 40545110 - 14702039;12477932 644809 H0YNI1;Q8N910 ABBA01038456;AC020658;AI300379;AK095915;AMYH01006558;BC061900;NG_033169;NM_001039905 BAC04647;NP_001034994;Q8N910 Hs.631718 1700574;1707852;2118217 RH103909;SHGC-56872;SHGC-82160 FLJ38596 putative uncharacterized protein C15orf56 protein-coding ENSG00000176753 33868 VALIDATED 1353490 C16orf19 chromosome 16 open reading frame 19 64484 14147 1345079 C16orf20 chromosome 16 open reading frame 20 64483 H3BMF2;H3BN60;H3BVG3 14148 1605016 C15orf57 chromosome 15 open reading frame 57 15 15 15 q15.1 17611408 17625148 - 38632590 38644544 - 40845298 40857252 - 6480464 17207965;15342556;14702039;12477932;21044950;20016921 90416 H0YLI5;H0YLN5;H0YM19;H0YMC0;H0YN78;Q9BV29 ABBA01038445;ABBA01038446;AC091045;AK092214;AK098781;AK293079;AK312842;AL832032;AMYH01006563;BC001673;BG709516;BP202606;BQ878848;CD686743;CH471125;NM_001080791;NM_001080792;NM_052849 AAH01673;ADQ32092;BAC03831;BAC05411;BAF85768;CAD89911;EAW92420;EAW92421;EAW92422;EAW92423;EAW92424;EAW92425;EAW92426;EAW92427;NP_001074260;NP_001074261;NP_443081;Q9BV29 Hs.654661 1648644;1754569;1858499;2141851;2180257;5015619;5020948;5037552;5109281 2068;D11S3114;D1S1425;D8S2279;G35510;RH45958;SHGC-132857;SHGC-24371;WI-22288 CCDC32;FLJ25915;MGC20481 OTTHUMP00000160454;coiled-coil domain containing 32;uncharacterized protein C15orf57 protein-coding ENSG00000128891 28295 14473 VALIDATED 1344022 C16orf27 chromosome 16 open reading frame 27 64740 14155 1353722 C16orf2 chromosome 16 open reading frame 2 749 1196 1347623 C16orf21 chromosome 16 open reading frame 21 64482 14149 1349511 C16orf29 chromosome 16 open reading frame 29 64738 14157 1353054 C16orf31 chromosome 16 open reading frame 31 64736 14159 1353914 C16orf43 chromosome 16 open reading frame 43 64720 14176 2307386 C15orf60 chromosome 15 open reading frame 60 15 15 15 q22 50614105 50730994 + 71522552 71639407 + 73735499 73852354 + 6480464 14702039;12477932;23382691 283677 H0YKR2;Q7Z4M0 ABBA01038709;ABBA01038710;ABBA01038711;AC009660;AC022735;AK131030;AMYH01006776;BC055412;BX113903;CH471082;DB465854;NM_001042367 AAH55412;EAW77929;NP_001035826;Q7Z4M0 Hs.743574 2121709;2176182 D15S1086;WI-14402 FLJ27520;FLJ36860;FLJ44083 hypothetical protein LOC283677;meiotic recombination protein REC114-like;uncharacterized protein C15orf60 protein-coding ENSG00000183324 25065 PROVISIONAL 1602296 C16orf11 chromosome 16 open reading frame 11 16 16 16 p13.3 810776 815883 + 550423 555530 + 610422 615529 + 12477932 146325 P0CG20 ABBA01030362;AE006464;AMYH01006996;BC016613;CH471112;NM_145270;Z97986 AAH16613;AAK61234;ADR82814;EAW85802;NP_660313;P0CG20 Hs.632220 LA16c-366D1.2 OTTHUMP00000205085;hypothetical protein LOC146325;uncharacterized protein C16orf11;uncharacterized protein RJD1 protein-coding ENSG00000161992 14139 10046 VALIDATED 2299194 C15orf62 chromosome 15 open reading frame 62 15 15 15 q15.1 17830052 17832540 + 38849451 38851942 + 41062159 41064647 + 6480464 16572171;16344560;14702039;12477932;8889548;19913121;20628086 643338 A8K5M9 ABBA01038432;AC012476;AK291344;AMYH01006566;BC027487;BM706032;CN478592;DA761028;NM_001130448 A8K5M9;BAF84033;NP_001123920 Hs.631715 hypothetical protein LOC643338;uncharacterized protein C15orf62, mitochondrial;uncharacterized protein FLJ75552, mitochondrial protein-coding ENSG00000188277 34489 VALIDATED 1344443 C16orf47 chromosome 16 open reading frame 47 16 q22.3 73160536 73178346 - 14702039;19010793 388289 Q6ZP98 ABBA01016811;AC116667;AK129695;AMYH01007803;CH471166;NM_207385;XR_109294;XR_111595;XR_172172 BAC85221;EAW59166;NP_997268;Q6ZP98 Hs.371893 1747867 G66805 putative uncharacterized protein C16orf47 protein-coding ENSG00000197445 28329 16623 VALIDATED 1603944 C16orf13 chromosome 16 open reading frame 13 16 16 16 p13.3 884563 886515 - 624430 626348 - 684429 686347 - 6480464 16341674;15342556;14702039;12477932;11157797;22939629;21139048 84326 F6VM53;H3BMF3;H3BNB2;H3BNT3;H3BQ55;H3BRT2;H3BS73 ABBA01030360;AE006464;AI146806;AK057077;AK294482;AK295628;AMYH01006998;AW027232;BC007207;BC047118;BG612714;BM827705;BP276058;BQ921757;BX104467;CH471112;CK904040;DB499720;NM_001040160;NM_001040161;NM_001040162;NM_001040165;NM_032366;Z84479 AAH07207;AAH47118;AAK61238;BAB71362;BAG57706;BAG58505;EAW85784;EAW85785;EAW85786;EAW85787;EAW85788;EAW85789;NP_001035250;NP_001035251;NP_001035252;NP_001035255;NP_115742;Q96S19 Hs.239500 JFP2;MGC13114 UPF0585 protein C16orf13;hypothetical protein LOC84326 protein-coding ENSG00000130731 14141 17482 VALIDATED 1352089 C16orf3 chromosome 16 open reading frame 3 16 16 16 q24.3 75159854 75160847 - 88622817 88623810 - 90095316 90096309 - 6480464 15489334;12477932;9790751 750 O95177 ABBA01014116;AC133919;AF050080;AF050081;AMYH01007941;BC093751;BC104849;CH471184;NM_001214 AAC69520;AAC69521;AAH93751;AAI04850;EAW66662;NP_001205;O95177 Hs.633032 1674111;2220596 SHGC-61195;UniSTS:485715 MGC132509 hypothetical protein LOC750;uncharacterized protein C16orf3 protein-coding ENSG00000221819 1197 05534 605179 VALIDATED 1345260 C16orf46 chromosome 16 open reading frame 46 16 16 16 q23.2 65385500 65409274 - 79644603 79668373 - 81087102 81110872 - 6480464 18951430;16344560;14702039;12477932;20379614;18029348 123775 H3BQQ0;Q6P387 AA905107;ABBA01016985;AC092718;AK057264;AK295411;AMYH01007848;BC064143;CH471114;DA525473;NM_001100873;NM_152337 AAH64143;BAB71401;BAG58362;EAW95548;NP_001094343;NP_689550;Q6P387 Hs.658684 1668970;1723737;2141201;5093854 A009X43;G32963;RH118758;RH17564 FLJ32702 OTTHUMP00000174976;OTTHUMP00000174977;chromosome 16 open reading frame 46;uncharacterized protein C16orf46 protein-coding ENSG00000166455 26525 08730 VALIDATED 1353331 C16orf6 chromosome 16 open reading frame 6 26588 1199 1348125 C16orf28 chromosome 16 open reading frame 28 16 p13.3 1354998 1369647 - 16344560;15761153;15616553;15489334;14702039;12477932;11157797;8889548 65259 AE006467;AK022685;AK027013;AL031709;AL031721;BC000150;BQ776895;CF136587;CH471112;DA558634;DA739764;NM_023076 AAH00150;AAK61278;BAB14178;BAB15626;EAW85662;EAW85663;EAW85664;NP_075564;Q9H9P5 Hs.598368;Hs.643536 FLJ23360 protein-coding 14156 08025 1345550 C16orf45 chromosome 16 open reading frame 45 16 16 16 p13.11 15208794 15362586 + 15435826 15589418 + 15528325 15682116 + 6480464 15489334;14702039;12477932;10493829;16169070;17207965;21139048;21906983 89927 H3BP34;H3BR56;H3BRF6;H3BTT5;H3BU79;H3BUY6;Q96MC5 ABBA01048890;ABBA01048891;ABBA01048892;ABBA01048893;ABBA01048894;ABBA01048895;ABBA01048896;ABBA01048897;ABBA01048898;ABBA01048899;AC026401;AC140504;AI377644;AK057180;AK293431;AMYH01007182;BC008967;BC023603;CH471226;NM_001142469;NM_033201;U95740 AAC31663;AAH08967;AAH23603;ADQ32126;BAB71376;BAG56936;EAW53916;EAW53917;EAW53918;NP_001135941;NP_149978;Q96MC5 Hs.401798 1688064;1740523;2121873;2128277;2132061;2168279;2173473 D16S3177;D16S3345;RH41898;RH65283;SHGC-33692;SHGC-56757;STS-AA027340 FLJ32618 OTTHUMP00000160327;hypothetical protein LOC89927;uncharacterized protein C16orf45 protein-coding ENSG00000166780 19213 12382 VALIDATED 2302534 C16orf52 chromosome 16 open reading frame 52 16 16 16 p12.2 20798365 20875858 + 21919974 22005016 + 22019456 22095975 + 6480464 15616553;15489334;12477932;14702039 730094 H3BMU2;H3BNM6;H3BP60;H3BQB3;H3BS23;Q8NHV5 ABBA01003849;ABBA01003850;AC009019;AC092119;AF086142;AK095585;AMYH01007355;BC027604;BC045557;BC053950;NM_001164579 NP_001158051;Q8NHV5 Hs.498890 1680841;1685245;1698320;1858528;2147779;2151451;2174789;5092862 A009B15;G32377;RH102700;RH64983;RH65214;RH93574;SHGC-56785;WI-20621 MGC26782 hypothetical protein LOC730094;uncharacterized protein C16orf52 protein-coding ENSG00000185716 27087 VALIDATED 1604787 C16orf59 chromosome 16 open reading frame 59 16 16 16 p13.3 2724490 2729339 + 2450116 2454965 + 2510115 2514964 + 6480464 12477932;14702039;16484223;21906983 80178 H3BND0;H3BPH1;H3BTF6;H3BU38;Q7L2K0 ABBA01030256;AC106820;AK023971;AK093788;AK128408;AK301929;AL559561;AMYH01007058;BC008882;BC018719;CH471112;CR457319;NM_025108 AAH08882;AAH18719;ACE87026;ADZ15571;BAB14745;BAG63349;CAG33600;EAW85505;EAW85506;EAW85507;EAW85508;EAW85509;NP_079384;Q7L2K0 Hs.534491 1655168;1677304 RH98649;SHGC-34827 FLJ13909 OTTHUMP00000159082;hypothetical protein LOC80178;uncharacterized protein C16orf59 protein-coding ENSG00000162062 25849 07840 VALIDATED 1605828 C16orf54 chromosome 16 open reading frame 54 16 16 16 p11.2 73038911 73042469 + 29661285 29664841 - 29753784 29757340 - 16344560;15489334;14702039;12975309;12477932;11181995;10493829;22505724 283897 Q6UWD8 ABBA01013119;AC002301;AC009133;AK093000;AMYH01007494;AY358833;BC025741;BC104466;BC104467;CH471238;DA427069;NM_175900 AAI04467;AAI04468;AAQ89192;BAC04015;EAW80012;NP_787096;Q6UWD8 Hs.331095 FLJ35681;MGC129957;MGC129958 OTTHUMP00000162996;transmembrane protein C16orf54 protein-coding ENSG00000185905 26649 08183 VALIDATED 1601979 C16orf58 chromosome 16 open reading frame 58 This gene encodes a putative transmembrane protein containing a conserved DUF647 domain that may be involved in protein-protein interaction. The encoded protein is related to a plant protein that participates in ultraviolet B light-sensing during root morphogenesis. [provided by RefSeq, Feb 2013] 16 16 16 p11.2 28788683 28807579 + 31408316 31427207 - 31500810 31519706 - 6480464 19515790;15489334;14702039;12477932;8125298;21890473;21906983;16344560 64755 B4DJP2;H3BR29;H3BS97;H3BSM7;H3BTA0;I3L2V0;Q96GQ5 ABBA01042096;AC026471;AK000679;AK023930;AK092580;AK222913;AK296166;AK296491;AK304608;AL834462;AMYH01007509;BC000822;BC009308;BC054514;BC059952;CA448699;CH471192;DA742232;NG_033149;NM_022744 AAH00822;AAH09308;BAB14730;BAC03918;BAD96633;BAG58904;BAG59128;BAG65393;EAW52119;EAW52120;EAW52121;EAW52122;NP_073581;Q96GQ5 Hs.499102;Hs.9003 1679163;1679167;1683633;1693740;1761637;1849376 RH65072;RH69206;RH98795;SHGC-145625;SHGC-58809;SHGC-61098 FLJ13868;RUS OTTHUMP00000163300;UPF0420 protein C16orf58;hypothetical protein LOC64755 protein-coding ENSG00000140688 25848 07839 VALIDATED 1604523 C16orf71 chromosome 16 open reading frame 71 16 16 16 p13.3 4993069 5008177 + 4724290 4739398 + 4784289 4799397 + 12477932 146562 K7ENX3;K7EPW6;Q8IYS4 ABBA01026784;AC020663;AF447587;AK125251;AK301794;AMYH01007107;BC035024;BI458862;BX648126;CH471112;NM_139170 AAH35024;AAM22870;ACE86621;ACE87302;BAG54174;BAG63247;EAW85267;EAW85268;NP_631909;Q8IYS4 Hs.602738 2218684 ZNF500__4861 DKFZp686H2240;FLJ43261 OTTHUMP00000159855;hypothetical protein LOC146562;uncharacterized protein C16orf71 protein-coding ENSG00000166246 25081 11238 VALIDATED 1603979 C16orf62 chromosome 16 open reading frame 62 16 16 16 p12.3 18716038 18861405 + 19474541 19619945 + 19566737 19712485 + 6480464 14702039;12477932;11230166;10493829;19913121;20532202;20628086;20379614;15342556;16344560;21139048;21890473;21906983 57020 C9J7I2;E7EWW0;F5H7K1;F6S1J4;G5E9I3;H0YFG6;H3BNX2;H3BRV8;H3BTI5;H3BUS7;H3BV68;H3BVG8;I3L1U5;Q9H0L7 ABBA01028264;ABBA01028265;AC002550;AC012621;AF461052;AK024693;AK095078;AK290286;AK294885;AL136744;AL832159;AL833428;AMYH01007323;AMYH01007324;BC014900;BC050464;BC058845;BP219237;BX537867;CH471186;DA452318;DC322427;NM_020314 AAC05806;AAH14900;AAH50464;AAH58845;AAL67806;ACE86683;ACE87367;BAB14965;BAF82975;BAG52981;BAG57979;CAB66678;CAD97869;CAH10399;EAW50289;EAW50290;EAW50291;NP_064710;Q7Z3J2 Hs.654964 1647405;1673145;1681012;1738591;2148546;2152810;2157460;2159756;2174702;2177537;5015404;5022651 D11S2921;D16S2594E;D16S2745;L17705;RH65185;RH69435;SHGC-53577;SHGC-60519;SHGC-60588;SHGC-60595;SHGC-60633;STS-AA024457 DKFZp313M0539;DKFZp434B0212;FLJ21040;MGC16824 OTTHUMP00000237331;OTTHUMP00000237332;UPF0505 protein C16orf62;esophageal cancer associated protein;esophageal cancer-associated protein;hypothetical protein LOC57020 protein-coding ENSG00000103544 24641 14455 VALIDATED 1606639 C16orf85 chromosome 16 open reading frame 85 16 q24.2 87147613 87164049 - 400555 Q6ZSH3 AC116552;AK127438;NM_001001682 AAI48582;AAI53154;BAC86980;NP_001001682;Q6ZSH3 Hs.120392 1758345 SHGC-148099 FLJ45530 protein-coding 33799 13509 1604592 C16orf70 chromosome 16 open reading frame 70 16 16 16 q22.1 51652166 51690685 + 65701416 65739943 + 67143915 67182442 + 6480464 16713569;15489334;14702039;14529721;12477932;10846156;9822620;19773279;21048031;19913121;20628086;21832049;22939629;21139048 80262 H3BRA5;H3BS58;H3BSG0;J3QRI8;Q9BSU1 ABBA01025429;ABBA01025430;ABBA01025431;AC074143;AF176088;AK022138;AMYH01007745;BC004556;CH471092;NM_025187 AAH04556;AAK96888;ADZ15338;BAB13968;EAW83072;EAW83073;EAW83074;EAW83075;EAW83076;EAW83077;EAW83078;NP_079463;Q9BSU1 Hs.513666 1672105;1682680;1738757;2146873;2162615;5015861;5037552;7185938 D10S16;D16S2584E;D16S2846;D8S2279;RH44529;RH70212;RH80598 C16orf6;FLJ12076;LIN10;lin-10 OTTHUMP00000174804;UPF0183 protein C16orf70;lin-10;lin-10 homolog protein-coding ENSG00000125149 29564 17460 PROVISIONAL 1605880 C16orf78 chromosome 16 open reading frame 78 16 16 16 q12.1 33919770 33945283 + 47965309 47990822 + 49407808 49433321 + 6480464 12477932;17207965;21890473;22219177 123970 Q8WTQ4 ABBA01000894;AC007614;AMYH01007654;BC021181;BC021718;CH471092;HC006816;NM_144602 AAH21181;AAH21718;ADQ31886;CBH19214;EAW82734;NP_653203;Q8WTQ4 Hs.125875 1738617;1757133 D16S2759;SHGC-144568 MGC33367 OTTHUMP00000164196;hypothetical protein LOC123970;uncharacterized protein C16orf78 protein-coding ENSG00000166152 28479 14560 PREDICTED 1606021 C16orf72 chromosome 16 open reading frame 72 16 16 16 p13.2 9353303 9381316 + 9093038 9121056 + 9185537 9213555 + 6480464 14702039;12477932;8889548;19322201 29035 Q14CZ0;Q9UI82 ABBA01019742;AC087190;AK123266;AMYH01007141;BC029878;BC113570;BI831003;BM975140;CB959956;CH471112;NM_014117 AAI13571;ADR82920;EAW85189;NP_054836;Q14CZ0 Hs.221497 1666405;1677576;1700544;1700930;1738545;1774877;1775667;1846596;1856005;2166111;2168873;5022038 A005B05;C160rf72;D16S2718;RH103893;RH104092;RH69874;RH70039;SHGC-60747;SHGC-60749;SHGC-60790;SHGC-61077;WI-12288 FLJ41272;PRO0149 OTTHUMP00000160111;UPF0472 protein C16orf72;hypothetical protein LOC29035 protein-coding 30103 17910 VALIDATED 2303333 C16orf90 chromosome 16 open reading frame 90 16 16 16 p13.3 3750264 3752201 - 3483485 3485422 - 3543484 3545421 - 646174 A8MZG2;H0Y3R3 ABBA01026740;AC004224;AMYH01007094;NM_001080524 A8MZG2;NP_001073993 Hs.632224 2177987 RH41812 OTTHUMP00000210840;OTTHUMP00000210841;hypothetical protein LOC646174;uncharacterized protein C16orf90 protein-coding ENSG00000215131 34455 PREDICTED 1606366 C16orf74 chromosome 16 open reading frame 74 16 16 16 q24.1 70044265 70087824 - 84298624 84342190 - 85741123 85784689 - 6480464 16189514;15489334;12477932;12107413;21203532 404550 Q96GX8;R4GMV5;R4GMY0;R4GN89;R4GNJ3 ABBA01034277;AC018695;AMYH01007888;AMYH01007889;AW072412;BC009078;CD674248;CH471114;CQ800176;CS502806;NM_206967 CAG27584;CAM83960;EAW95441;EAW95442;NP_996850;Q96GX8 Hs.461655 1852363 SHGC-60803 MGC17624 MGC17624 protein;hypothetical protein LOC404550;uncharacterized protein C16orf74 protein-coding ENSG00000154102 23362 14460 VALIDATED 1605686 C16orf80 chromosome 16 open reading frame 80 16 16 16 q21 42644770 42662761 - 56704997 56720797 - 58147496 58163296 - 6480464 8688464;15324660;12477932;17332742;21139048;21890473;21906983 29105 H3BPA3;Q9Y6A4 ABBA01025294;ABBA01025295;AC009107;AC012182;AC026771;AF087845;AF093680;AK027099;AK297819;AMYH01007707;AV751497;BC005152;CH471092;NM_013242 AAD40382;AAH05152;AAP97158;ABZ92321;BAG60156;EAW82967;NP_037374;Q9Y6A4 Hs.532755 1660319;1738649 D16S2775;SHGC-61162 EVORF;GTL3;fSAP23 OTTHUMP00000164726;UPF0468 protein C16orf80;functional spliceosome-associated protein 23;gene trap locus 3;transcription factor IIB protein-coding ENSG00000070761 29523 13616 VALIDATED 1604692 C16orf86 chromosome 16 open reading frame 86 16 16 16 q22.1 52209207 52211151 + 66258218 66260162 + 67700717 67702661 + 12477932 388284 F8WFD6;Q6ZW13;R4GNF0 ABBA01025451;AC010530;AK123796;AMYH01007751;BC032064;BC041612;BC064498;BC082249;BC132878;BC132880;CA432406;CH471092;NM_001012984 BAC85694;EAW83162;EAW83163;EAW83164;NP_001013002;Q6ZW13 Hs.632208 OTTHUMP00000197746;hypothetical protein LOC388284;uncharacterized protein C16orf86 protein-coding ENSG00000159761 33755 18380 VALIDATED 1604693 C16orf87 chromosome 16 open reading frame 87 16 16 16 q11.2 31344142 31373247 - 45393460 45422575 - 46835959 46865074 - 6480464 12477932;17207965;19322201 388272 H3BQL3;Q6PH81 ABBA01013767;AC007225;AMYH01007642;BC056676;BX647945;CH471092;NM_001001436 AAH56676;ADQ32180;CAH56192;EAW82689;NP_001001436;Q6PH81 Hs.406551 1676966;2108431;5015861;5022578;5022651;7185938 D10S16;D11S2921;D1S1423;RH78494;RPL36AL_8599 MGC62018 OTTHUMP00000163360;UPF0547 protein C16orf87;hypothetical protein LOC388272 protein-coding ENSG00000155330 33754 17370 PREDICTED 1602067 C16orf89 chromosome 16 open reading frame 89 This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 16 16 16 p13.3 5303508 5325498 - 5034124 5056112 - 5094123 5116146 - 6480464 21145461;16303743;15197164;12975309;12477932;20578903 146556 G3V0F0;Q6UX73 ABBA01026798;AC026458;AK075242;AK300708;AMYH01007110;AMYH01007111;AY358483;BC033681;CF272639;CH471112;CQ783348;NG_030316;NM_001098514;NM_152459 AAH33681;AAQ88847;BAC11494;BAG62387;CAF86554;EAW85242;EAW85243;EAW85244;NP_001091984;NP_689672;Q6UX73 Hs.11782 1698816;2107385;2168594;5022578;5022651 D11S2921;D16S3329;D1S1423;MGC45438__7717;RH102972 MGC45438 OTTHUMP00000214789;OTTHUMP00000214790;OTTHUMP00000214791;UPF0764 protein C16orf89;hypothetical protein LOC146556 APPROVED protein-coding ENSG00000153446 28687 11353 VALIDATED 1602175 C16orf82 chromosome 16 open reading frame 82 16 16 16 p12.1 25854262 25856530 + 26985529 26987991 + 27078219 27080487 + 15489334;12477932 162083 Q7Z2V1 ABBA01017146;AC092725;AF536240;AI025812;AK311574;AMYH01007402;AW450252;BC031257;BC136370;BC136382;CH471145;NM_001145545 AAH31257;AAI36371;AAI36383;AAP97728;EAW55761;NP_001139017;Q7Z2V1 Hs.120831 1697072 RH102017 FLJ18616;TNT OTTHUMP00000220950;protein TNT protein-coding 30755 18211 VALIDATED 7205296 C16orf97 chromosome 16 open reading frame 97 16 q12.1 52060264 52107847 - 11181995 388276 H3BN30;H3BSQ4;I3L0Q7 ABBA01066468;ABBA01066469;AC009039;AMYH01007670;BX096212;CH471092;NM_001242473 EAW82782;H3BN30;NP_001229402 Hs.534669 hCG2045437;uncharacterized protein C16orf97;uncharacterized protein LOC388276 protein-coding ENSG00000261190 44658 VALIDATED 7207291 C16orf98 chromosome 16 open reading frame 98 16 31213206 31214767 + 100652740 I3L0S3 ABBA01042085;AC009088;AMYH01007504;BF508251;BX464768;NR_102400;XM_003403462;XM_003846586;XM_003960644 XP_003403510;XP_003846634;XP_003960693 chromosome 16 open reading frame 98 miscrna ENSG00000261359 45036 VALIDATED 5487050 C16orf96 chromosome 16 open reading frame 96 16 16 p13.3 4546492 4590319 + 4606491 4650318 + 15616553;23251661 342346 A6NNT2 ABBA01026778;ABBA01026779;ABBA01026780;ABBA01026781;AC023830;AMYH01007105;AMYH01007106;NM_001145011 A6NNT2;NP_001138483 Hs.684212 1677354 RH41222 hypothetical protein LOC342346;putative uncharacterized protein C16orf96 protein-coding ENSG00000205832 40031 PREDICTED 1353497 C17orf10 chromosome 17 open reading frame 10 53396 1201 2306470 C16orf92 chromosome 16 open reading frame 92 16 16 16 p11.2 72759701 72761069 - 29942156 29943524 + 30034655 30036023 + 12477932 146378 H3BMV0;H3BSP6;H3BVC3;Q96LL3 ABBA01013109;AC093512;AK058133;AMYH01007497;BC101433;BC101434;BC101435;BC101436;BC127955;CH471238;NM_001109659;NM_001109660 AAI01434;AAI01435;AAI01436;AAI01437;AAI27956;BAB71678;EAW79941;NP_001103129;NP_001103130;Q96LL3 Hs.651588 1675614;5493551 RH78407;UniSTS:487197 FLJ25404;MGC125422 hypothetical protein LOC146378;uncharacterized protein C16orf92 protein-coding ENSG00000167194 26346 PREDICTED 1603940 C16orf93 chromosome 16 open reading frame 93 16 16 16 p11.2 29523901 29528691 + 30676253 30681043 - 30768744 30773565 - 12477932 90835 A1A4V9;F5H7A8;H0YGC5;H3BNW1;H3BTQ9 ABBA01042056;AC106886;AK307279;AL122109;AMYH01007499;BC042548;BC063391;BC073881;BC092491;BC128128;BC128129;BI829598;CH471192;NG_016616;NM_001014979;NM_001195620 A1A4V9;AAH92491;AAI28129;AAI28130;EAW52201;EAW52202;EAW52203;EAW52204;EAW52205;EAW52206;NP_001014979;NP_001182549 Hs.724010 1676350;1677718;1677848;1686246;1690656 RH65200;RH69119;RH79848;RH79900;RH92783 MGC104706 OTTHUMP00000237342;OTTHUMP00000237343;coiled-coil domain-containing protein C16orf93;hypothetical protein LOC90835 protein-coding ENSG00000196118 28078 18705 VALIDATED 1605551 C16orf91 chromosome 16 open reading frame 91 16 16 16 p13.3 1682542 1691944 - 1409945 1419346 - 1469944 1479345 - 6480464 12477932;11157797 283951 H3BP47;Q4G0I0 ABBA01030306;ABBA01030307;AE006467;AL032819;AMYH01007035;AW014549;BC023590;BC092497;BQ962326;CH471112;CS072388;NM_001010878;NM_001272051 AAH92497;AAI40335;AAI46484;AAK61280;CAI93526;EAW85657;EAW85658;NP_001010878;NP_001258980;Q4G0I0 Hs.58373;Hs.744762 1768038 RH47026 CCSMST1;MGC104723;gs103 cattle cerebrum and skeletal muscle-specific protein 1 family member;protein CCSMST1 protein-coding ENSG00000174109 27558 17332 VALIDATED 3051040 C17orf107 chromosome 17 open reading frame 107 17 17 17 p13.2 4817829 4821108 + 4743492 4747006 + 4802948 4806227 + 100130311 E5RJ01;Q6ZR85 ABBA01054781;AC109333;AC233723;AK128415;AK308530;AK309386;AMYH01008043;AW014012;NG_008029;NM_001145536 BAC87429;NP_001139008;Q6ZR85 Hs.579243 1675505;2122387;2167048;5095183 CHRNE;RH76075;SHGC-11989;WI-19144 FLJ99427 OTTHUMP00000227680;hypothetical protein LOC100130311;uncharacterized protein C17orf107 protein-coding ENSG00000205710 37238 VALIDATED 1344830 C17orf11 chromosome 17 open reading frame 11 53395 AJ276251 protein-coding 1202 1348105 C17orf12 chromosome 17 open reading frame 12 p13.3 53394 AJ276252 Hs.684572 protein-coding 1203 6483734 C17orf112 chromosome 17 open reading frame 112 17 51062880 51065012 + 100506650 F2Z3M2 ABBA01041273;AC102948;AI126620;AMYH01008486;BX103358;NM_001243552 F2Z3M2;NP_001230481 Hs.146556 uncharacterized protein C17orf112;uncharacterized protein LOC100506650 protein-coding ENSG00000227011 42963 VALIDATED 1347951 C17orf13 chromosome 17 open reading frame 13 p13.3 53393 AJ276253;BX119309;BX502008 Hs.659206 protein-coding 1204 1351090 C17orf14 chromosome 17 open reading frame 14 p13.3 53392 AJ276255 protein-coding 1205 1348490 C17orf15 chromosome 17 open reading frame 15 53391 1206 2299982 C17orf100 chromosome 17 open reading frame 100 17 17 17 p13.1 6576124 6577683 + 6495783 6497341 + 6555059 6556617 + 6480464 12477932;11181995 388327 A8MU93;D3DTM5 ABBA01054836;AC004706;AMYH01008061;BC028174;BC038956;BC052606;BC067087;BC082254;BX488537;CH471108;NM_001105520 A8MU93;EAW90297;EAW90298;NP_001098990 Hs.262480 2189517;2190225;2190227 ALOX15-A611G;ALOX15-F4-R4;G73120 OTTHUMP00000163267;hCG1985469;hypothetical protein LOC388327;uncharacterized protein C17orf100 protein-coding 34494 VALIDATED 1346325 C17orf17 chromosome 17 open reading frame 17 53389 1208 1351954 C17orf16 chromosome 17 open reading frame 16 53390 1207 5132711 C16orf95 chromosome 16 open reading frame 95 16 16 q24.2 71633096 71647671 - 87336404 87351026 - 11076863;11181995;12477932;15489336;16381901;16344560;18487259 100506581 H3BNZ7;Q9H693 AB371437;ABBA01034327;AC010531;AK026130;AL136762;AMYH01007898;BC015536;BI460222;BU839368;CH471114;DA871621;NM_001195124;NM_001195125;NM_001256917 BAB15370;CAL37700;CAL37948;EAW95406;EAW95407;EAW95408;NP_001182053;NP_001182054;NP_001243846;Q9H693 Hs.729380 1677170 RH99238 DKFZp434J1815;FLJ22477 hypothetical protein LOC100506581;uncharacterized protein C16orf95 protein-coding ENSG00000260456 40033 VALIDATED 1354402 C17orf19 chromosome 17 open reading frame 19 53387 1210 1349410 C17orf18 chromosome 17 open reading frame 18 53388 1209 1602729 C17orf2 chromosome 17 open reading frame 2 p13.3 10673334 8316 U53930 protein-coding 1213 1350625 C17orf20 chromosome 17 open reading frame 20 53386 1214 1343641 C17orf21 chromosome 17 open reading frame 21 53385 1215 1352014 C17orf4 chromosome 17 open reading frame 4 53402 1218 1346844 C17orf22 chromosome 17 open reading frame 22 53384 1216 1347909 C17orf33 chromosome 17 open reading frame 33 170794 18227 1348577 C17orf5 chromosome 17 open reading frame 5 53401 1219 1606417 C17orf103 chromosome 17 open reading frame 103 17 17 17 p11.2 21384916 21400202 + 21082775 21097171 - 21142183 21156578 - 6480464 12477932 256302 H3BMV2;H3BT41;Q8N6N6 ABBA01050461;AC087294;AK126856;AL359586;AMYH01008268;BC029527;BC044645;CH471210;CR749731;FJ695210;NM_152914 AAH29527;BAG54382;EAX02600;NP_690878;Q8N6N6 Hs.654713 1678053;1730185;2128257;5037552 D17S1652E;D8S2279;RH80924;STS-AA035008 DKFZp761I1115;DKFZp762H185;Gtlf3b;MGC33894 gene trap locus F3b;protein GTLF3B;transcript expressed during hematopoiesis 2 protein-coding ENSG00000154035 30770 17527 VALIDATED 3458383 C17orf105 chromosome 17 open reading frame 105 17 17 17 q21.31 38565804 38570055 + 39213329 39220506 + 41857803 41862054 + 6480464 12477932 284067 B2RV13;K7ER76 ABBA01028400;AC003098;AK125817;AMYH01008409;BC054872;BC070324;BC146971;HC007090;HC044751;NM_001136483 AAI46972;B2RV13;CBH19350;CBH30705;NP_001129955 Hs.252707 1733444;5015879;5037552 D17S1225;D8S2279;GDB:314949 FLJ43829 hypothetical protein LOC284067;uncharacterized protein C17orf105 protein-coding 37241 PREDICTED 1605246 C17orf104 chromosome 17 open reading frame 104 17 17 17 q21.31 39444254 39463671 + 40098012 40104116 + 42733762 42753167 + 14702039;12477932;8889549 284071 A2RUB1;C9J4A2;C9JC06;C9JYK8;K7EPA7 AA205120;ABBA01028356;ABBA01028357;ABBA01028358;AC091152;AK093167;AK097747;AK302001;AMYH01008426;BC035159;BC041481;BC132822;BC136642;CH471178;DB459438;DB460166;DV080633;NM_001145080 A2RUB1;AAH35159;AAH41481;AAI32823;AAI36643;BAC04083;BAG63404;EAW51590;NP_001138552 Hs.349758 1682187;5022578;5037552 D1S1423;D8S2279;RH98557 FLJ35848;FLJ40428;MGC43301 OTTHUMP00000202970;hypothetical protein LOC284071;uncharacterized protein C17orf104 APPROVED protein-coding ENSG00000180336 26670 18768 VALIDATED 1606635 C17orf102 chromosome 17 open reading frame 102 17 17 17 q12 29811365 29816611 - 29925255 29930501 - 32901142 32906388 - 15489334;14702039;12477932 400591 A2RUQ5 ABBA01011216;AC005691;AK126768;AMYH01008352;BC133004;BC136710;BC142651;NM_207454 A2RUQ5;AAI33005;AAI36711;AAI42652;BAC86680;NP_997337 Hs.514090 FLJ44815 OTTHUMP00000210918;hypothetical protein LOC400591;uncharacterized protein C17orf102 protein-coding ENSG00000197322 34412 16975 VALIDATED 1602634 C17orf52 chromosome 17 open reading frame 52 q25.2 12477932 283994 BC038218 Hs.645372 protein-coding 27562 1605244 C17orf47 chromosome 17 open reading frame 47 17 17 17 q22 53080745 53083480 - 53973947 53976682 - 56618948 56621733 - 14702039;12477932;16344560 284083 Q8NEP4 ABBA01041340;AC005666;AK097440;AMYH01008513;BC022189;CH471109;DB073141;HC006818;NG_029570;NM_001038704 AAH22189;BAC05054;CBH19215;EAW94439;NP_001033793;Q8NEP4 Hs.646574 FLJ40121 hypothetical protein LOC284083;uncharacterized protein C17orf47 protein-coding ENSG00000181013 26844 08269 VALIDATED 1349752 C17orf6 chromosome 17 open reading frame 6 p13.3 53400 AJ272176;AJ276246 Hs.684568 miscrna 1220 1602101 C17orf53 chromosome 17 open reading frame 53 17 17 17 q21.31 38927986 38948557 + 39574852 39595369 + 42219274 42239844 + 6480464 19079262;14702039;12477932;21963094;22504420 78995 Q8N3J3 ABBA01028385;AC004596;AK021656;AK291924;AL834295;AMYH01008410;BC000121;BI829278;CH471178;DC350778;NM_001171251;NM_024032 AAH00121;ACE86869;ACE87557;ADZ15728;BAB13867;BAF84613;CAD38968;EAW51629;EAW51630;EAW51631;EAW51632;NP_001164722;NP_076937;Q8N3J3 Hs.437059 2191327 MARC_17439-17440:1022701360:3 FLJ11594;MGC3130 hypothetical protein LOC78995;uncharacterized protein C17orf53 protein-coding ENSG00000125319 28460 08825 VALIDATED 1603574 C17orf50 chromosome 17 open reading frame 50 17 17 17 q12 30998050 31002232 + 31112029 31116211 + 34087916 34092098 + 15489334;12477932;19913121;20628086 146853 K7ENY3;K7EQG7;Q8WW18 ABBA01011234;AC006237;AI004987;AMYH01008355;AY557347;BC021727;CH471147;DB452451;NM_145272 AAI56775;AAS67921;EAW80130;NP_660315;Q8WW18 Hs.127194 1697790 RH102419 hypothetical protein LOC146853;uncharacterized protein C17orf50 protein-coding ENSG00000154768 29581 11239 VALIDATED 1601699 C17orf51 chromosome 17 open reading frame 51 17 17 17 p11.2 21101932 21124927 + 21374422 21395534 - 21431571 21454941 - 16625196;15489334;14702039;12477932 339263 A8MQB3;H0YGX3 ABBA01050469;AC138710;AC233702;AK023039;AK056436;AK090937;AK096256;AK123143;AMYH01008269;BC010612;BC019938;BC040371;BC052777;BC053952;BC132738;BC136630;BX640850;NM_001113434 A8MQB3;AAI32739;AAI36631;BAG51708;NP_001106905 Hs.514016;Hs.603880 1676524;5127443 D17S687;RH64889 FLJ12977;FLJ31874;FLJ33618;FLJ38937;FLJ41148 OTTHUMP00000163730;hypothetical protein LOC339263;uncharacterized protein C17orf51 protein-coding ENSG00000212719 27904 VALIDATED 1605250 C17orf58 chromosome 17 open reading frame 58 17 17 17 q24.2 62556881 62557883 - 63417679 63420227 - 65987217 65989765 - 6480464 15489334;12477932 284018 Q2M2W7 ABBA01028975;AC134407;AK026583;AMYH01008587;BC021702;BC036760;BC105124;BC112073;BX364842;NM_181655;NM_181656 AAH36760;AAI05125;AAI12074;NP_858041;NP_858042;Q2M2W7 Hs.90790 1699056 RH103103 MGC138278 UPF0450 protein C17orf58;hypothetical protein LOC284018 protein-coding ENSG00000186665 27568 14151 VALIDATED 1346268 C17orf7 chromosome 17 open reading frame 7 53399 1221 1606738 C17orf49 chromosome 17 open reading frame 49 17 17 17 p13.1 6943578 6946344 + 6858848 6861563 + 6918056 6920843 + 6480464 16964243;15489334;15146197;14702039;12477932;11181995;8889548;20850016;16712791;17207965;15960975;20516061;21139048;22623531 124944 F8W038;F8W1H0;K7ES76;Q8IXM2 ABBA01054845;AC040977;AI183273;AK055800;AK295795;AMYH01008065;BC040036;BM011108;BU596784;BU730728;CA449884;CB119197;CH471108;CN280697;NM_001142798;NM_001142799;NM_174893 AAH40036;ADQ33067;BAG58615;EAW90278;NP_001136270;NP_001136271;NP_777553;Q8IXM2 Hs.511801 5111633 RH81058 BAP18;HEPIS;MGC49942 BPTF associated protein of 18 kDa;BPTF-associated protein of 18 kDa;MLL1/MLL complex subunit C17orf49;OTTHUMP00000243066;OTTHUMP00000243067;OTTHUMP00000243068;OTTHUMP00000243069;OTTHUMP00000243070;OTTHUMP00000243071;chromatin complexes subunit BAP18;human embryo lung cellular protein interacting with SARS-CoV nsp-10 protein-coding ENSG00000258315 28737 14662 VALIDATED 1603302 C17orf59 chromosome 17 open reading frame 59 17 17 17 p13.1 8119895 8121808 - 8032376 8034115 - 8091651 8093564 - 16344560;12477932 54785 Q96GS4;Q9P1D2 ABBA01054901;AC129492;AI174760;AK000021;AK222506;AMYH01008088;BC009261;BC018880;BC070272;CA423621;CH471108;DA199264;DR006664;NM_017622 AAH09261;AAH18880;AAH70272;BAA90889;BAD96226;EAW90080;NP_060092;Q96GS4 Hs.129563 5121043 SHGC-56821 FLJ20014;PRO2472 OTTHUMP00000204665;hypothetical protein LOC54785;uncharacterized protein C17orf59 protein-coding ENSG00000196544 25939 13368 VALIDATED 1603500 C17orf67 chromosome 17 open reading frame 67 17 17 17 q22 51330963 51354807 - 52224273 52248249 - 54869274 54911256 - 6480464 19266077;12477932 339210 Q0P5P2 ABBA01041303;ABBA01041304;ABBA01041305;ABBA01041306;AC106858;AMYH01008495;AMYH01008496;AMYH01008497;BC041467;BC093905;BC093907;BU075516;CA308560;CH471109;NM_001085430 AAH93905;AAH93907;EAW94527;NP_001078899;Q0P5P2 Hs.658949 hypothetical protein LOC339210;uncharacterized protein C17orf67 protein-coding ENSG00000214226 27900 VALIDATED 1603589 C17orf64 chromosome 17 open reading frame 64 17 17 17 q23.2 57600356 57609277 + 55854655 55863545 + 58499865 58508787 + 6480464 12477932 124773 K7EQ24;Q86WR6 ABBA01035408;AC037475;AMYH01008529;BC036356;BC048806;CD742737;CH471179;DB448877;NM_181707 AAH36356;AAH48806;EAW51405;NP_859058;Q86WR6 Hs.129312 1681698 RH98573 OTTHUMP00000211620;hypothetical protein LOC124773;uncharacterized protein C17orf64 protein-coding ENSG00000141371 26990 14029 VALIDATED 1604716 C17orf66 chromosome 17 open reading frame 66 17 17 17 q12 31092173 31105452 - 31206073 31220008 - 34181960 34195895 - 14702039;12477932;20237496 256957 A2RTY3;K7EM23;K7ERP7 ABBA01011238;ABBA01011239;AC015849;AK057392;AK301774;AK301884;AK301943;AMYH01008355;AMYH01008356;BC033734;BC132681;BC144011;BX114438;CH471147;HC006976;HC044557;NM_152781 A2RTY3;AAH33734;AAI32682;ADR83073;ADZ16083;BAB71466;BAG63233;BAG63316;BAG63362;CBH19293;CBH30608;EAW80121;EAW80122;EAW80123;NP_689994 Hs.514820 1681781 RH93121 FLJ32830 OTTHUMP00000163881;hypothetical protein LOC256957;uncharacterized protein C17orf66 protein-coding ENSG00000172653 26548 08142 VALIDATED 1603896 C17orf77 chromosome 17 open reading frame 77 17 17 17 q25.1 69173532 69182802 + 70092652 70101943 + 72581057 72590348 + 14702039 146723 E9PQI6;Q96MU5 ABBA01028836;AC079325;AK056444;AMYH01008625;CH471099;NM_152460 AAI48445;AAI53034;EAW89172;NP_689673;Q96MU5 Hs.350775 5015861;5037552;7185938 D10S16;D8S2279 FLJ31882 OTTHUMP00000070876;hypothetical protein LOC146723;uncharacterized protein C17orf77 protein-coding ENSG00000182352 26480 08112 VALIDATED 1603374 C17orf72 chromosome 17 open reading frame 72 17 17 17 q23.3 56463786 56469714 + 59429449 59435396 + 62075711 62081645 + 14702039;12477932;16344560 92340 B4DG13;J3KRF4;J3KRR4;J3QR92;P0C7W0 ABBA01035313;AC005803;AK021786;AK294360;AK302960;AK304254;AL161972;AMYH01008552;BC030709;BC045676;CH471109;DB037384;DC358808;NM_001164257;NM_001191029;NM_001191030;NM_001191031 BAG51052;BAG57624;BAG64111;BAG65120;EAW94224;NP_001157729;NP_001177958;NP_001177959;NP_001177960;P0C7W0 Hs.708161 1664046;1768523;2119599;2149998 A004O13;D17S1976;D17S2034;WI-15726 DKFZp761M2312;FLJ11724 hypothetical protein LOC92340;uncharacterized protein C17orf72 protein-coding ENSG00000224383 25673 VALIDATED 1344979 C17orf8 chromosome 17 open reading frame 8 53398 1222 1604207 C17orf74 chromosome 17 open reading frame 74 17 17 17 p13.1 7354821 7356773 + 7269659 7271611 + 7328935 7330887 + 12477932 201243 I3L1F6;Q0P670 ABBA01054865;AC113189;AMYH01008082;BC031286;BC044816;BC048010;CH471108;HC007082;NM_175734 CBH19346;EAW90191;EAW90192;EAW90193;NP_783861;Q0P670 Hs.380704 1690460 RH98448 hypothetical protein LOC201243;uncharacterized protein C17orf74 protein-coding ENSG00000184560 27315 14128 VALIDATED 1604593 C17orf70 chromosome 17 open reading frame 70 FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008] 17 17 17 q25.3 76151328 76163810 - 77117387 77130023 - 79506911 79519429 - 6480464 17396147;15146197;14702039;12973351;12477932;8125298;16344560;18285517;20347428;18029348;20347429;16116422;21832049;22705371;20360068 80233 A4ZI32;E7EVV8;F5GZS4;F5H095;F5H5G6;I3L2L9;J3KQD8;Q0VG06 ABBA01032153;AC137896;AC139149;AK024644;AK025828;AK054713;AK225370;AL834374;AMYH01008715;AMYH01008716;AMYH01008717;BC001724;BC008883;BC021968;BC117139;BC117141;BC143861;CH471099;CN366430;DA103390;DQ989324;NM_025161;NR_033338 AAH01724;AAH21968;AAI17140;AAI17142;ABK88282;ADZ16080;BAB14944;BAB15251;BAG51415;CAD39037;EAW89655;EAW89656;EAW89657;EAW89658;EAW89659;EAW89660;NP_079437;Q0VG06 Hs.313905 2187795;5014053 D1S3693;G69480 FAAP100;FLJ22175;FLJ30151 Fanconi anemia associated protein 100 kDa subunit;Fanconi anemia core complex 100 kDa subunit;Fanconi anemia-associated protein of 100 kDa;Fanconi anemia-associated protein, 100kDa;OTTHUMP00000236787 APPROVED protein-coding ENSG00000185504 26171 07982 611301 VALIDATED 1606782 C17orf62 chromosome 17 open reading frame 62 17 17 17 q25.3 76992212 77000132 - 77993808 78001983 - 80400462 80408707 - 6480464 18464913;16344560;15489334;14702039;12878157;12477932;8125298;17207965;15146197;8889548;21139048;21503106 79415 H0Y2X1;J3KS78;J3KSB6;J3KSJ5;J3KTF4;J3KTI1;J3QKS6;J3QKZ6;J3QLB7;J3QQQ4;J3QRG5;J3QRZ2;J3QS53;Q969P4;Q9BQA9 ABBA01019679;AC132938;AF269290;AK027743;AK054876;AK056342;AK074950;AK090484;AK092865;AK225389;AK309201;AMYH01008733;AU280357;BC003595;BC004171;BG338078;BG716477;BM147030;BM801484;BU734211;BX451530;CH471099;CN260096;DA008508;DA342707;DA436899;DA453235;DA500882;DA663677;DA716299;DA969007;DB113745;NM_001033046;NM_001100407;NM_001100408;NM_001193653;NM_001193654;NM_001193655;NM_001193657;NR_036514;NR_036516;NR_036517;NR_036518;NR_036519 AAG23173;AAH03595;AAH04171;ADQ32838;BAB55335;BAB70818;BAB71156;BAC03465;EAW89776;EAW89777;EAW89778;EAW89779;EAW89780;EAW89781;EAW89782;EAW89783;EAW89784;EAW89785;EAW89786;EAW89787;EAW89788;EAW89789;EAW89790;NP_001028218;NP_001093877;NP_001093878;NP_001180582;NP_001180583;NP_001180584;NP_001180586;Q9BQA9 Hs.163113 1696972;2179889;5014051;5015619;5022200;5037552;5091076 D11S3114;D8S2278;D8S2279;G06994;L18426;RH101958;RH70292 FLJ00406;FLJ90469;MGC4368 hypothetical protein LOC79415;uncharacterized protein C17orf62 protein-coding ENSG00000178927 28672 14630 VALIDATED 1602088 C17orf84 chromosome 17 open reading frame 84 84185 Q9H656 AK026247 BAB15410;Q9H656 Hs.684545 FLJ22594 protein-coding 26206 1606168 C17orf76-AS1 C17orf76 antisense RNA 1 17 17 17 p11.2 16245200 16276873 + 16283081 16286067 + 16342301 16373962 + 6480464 16712791;17567985;16344560;15342556;15146197;12477932;10393949;8889548;19322201;17207965;21900206 125144 Q8N1F1;Q96EF2 ABBA01035652;AC093484;AC127540;AJ012499;AK098643;AK307982;AK308482;AK309961;AK311247;AMYH01008149;BC012396;BC019833;BC027986;BC040159;BI333700;BP353162;BP377665;BP870476;BQ070126;BQ954204;BU165462;BU506593;BU599615;BX538291;CB150672;CD050014;CD389053;CF126952;CH471222;CN297624;CR989654;DA131201;DA193585;DA383448;DA440445;DA485648;DA494627;DA769571;DA793334;DA802938;DA857697;DA867958;DB258221;DW409012;NR_027158;NR_027159;NR_027160;NR_027161;NR_027162;NR_027163;NR_027164;NR_027165;NR_027166;NR_027167;NR_027168;NR_027169;NR_027170;NR_027171;NR_027172;NR_027173;NR_027174;NR_027175;NR_027176;NR_027177;NR_027178;NR_027179;NR_027667;NR_045021;NR_045022;NR_045023;NR_045024;NR_045025;NR_045026;NR_045027;NR_045028;NR_045029 AAH12396;AAH19833;AAH27986;AAH40159;ADQ31723;CAD98086;EAX04510;EAX04511;EAX04512;EAX04513;EAX04514;EAX04515;Q8N1F1 Hs.368934 1685197;1686254;1686600;1687862;1754423;1783516;2117735;2160830;2170358;2170360 D17S1366E;D17S1661;RH36840;RH66249;RH79195;RH94093;RH94205;SHGC-132464;SHGC-149766;SHGC-3233 C17orf45;FLJ25777;MGC40157;NCRNA00188;TSAP19 APPROVED miscrna ENSG00000175061 28619 17549 PREDICTED 1353586 C17orf9 chromosome 17 open reading frame 9 53397 1223 1602870 C17orf75 chromosome 17 open reading frame 75 17 17 17 q11.2 27568590 27579396 - 27682494 27693302 - 30655460 30669228 - 6480464 18029348;15489334;12477932;9110174;8619474;15342556;22797925 64149 J3KRR1;J3KT97;J3QKQ1;J3QRW7;J9JIC5;K7EII1;K7EIQ2;K7ERX0;Q9HAS0 AB062437;ABBA01000711;ABBA01000712;AC005899;AF052093;AF305686;AMYH01008335;AMYH01008336;BC026017;BC035715;BC047325;BC054035;BP308900;CA444740;CD706845;CH471147;NM_022344 AAG23214;AAH26017;AAH35715;AAH47325;AAH54035;BAB93500;EAW80238;NP_071739;Q9HAS0 Hs.655257 1649039;1857838;2138048;5014003;5014051;5014740;5015404;5015881;5015961;5016478;5016596;5020740;5022200;5022463;5022578;5022651;5024601;5037552;5109281 D11S2921;D15S1477;D17S1136;D17S1476E;D17S610;D1S1423;D1S1425;D3S1673;D8S2278;D8S2279;GDB:335751;GDB:434012;GDB:631802;L17705;L17809;L18426;RH18407;RH91950;SHGC-33551 NJMU-R1 protein Njmu-R1;spermatogenesis-related protein protein-coding 30173 11392 VALIDATED 1601914 C17orf82 chromosome 17 open reading frame 82 17 17 17 q23.2 58590141 58591670 + 56843894 56845423 + 59489112 59490641 + 6480464 12477932;19893584;20383146;17207965;23263486 388407 Q86X59 ABBA01205205;AC005746;AMYH01008533;BC046200;CH471179;NM_203425 AAH46200;ADQ33068;EAW51427;NP_982249;Q86X59 Hs.434459 putative uncharacterized protein C17orf82 protein-coding ENSG00000187013 32699 14202 PREDICTED 2299176 C17orf96 chromosome 17 open reading frame 96 17 17 17 q12 33488881 33492112 - 36827956 36831187 - 36827956 36831187 - 6480464 16625196 100170841 A6NHQ4 ABBA01031909;ABBA01031910;AC006449;AMYH01008366;CH471152;NM_001130677 A6NHQ4;EAW60520;NP_001124149 Hs.445574 1768569;2128589 RH48102;SGC31161 OTTHUMP00000163180;Uncharacterized protein ENSP00000317905;hypothetical protein LOC100170841;uncharacterized protein C17orf96 protein-coding ENSG00000179294 34493 PREDICTED 1602416 C17orf78 chromosome 17 open reading frame 78 17 17 17 q12 32555471 32572168 + 32807098 32823775 + 35732985 35749662 + 14702039;12477932;19913121;20628086;17207965;23535730 284099 Q8N4C9 ABBA01001373;AC068400;AK096966;AMYH01008361;BC034672;CH471199;NG_023295;NM_173625 AAH34672;ADQ31592;BAC04914;EAW57585;EAW57586;NP_775896;Q8N4C9 Hs.439154 FLJ39647;MGC34759 hypothetical protein LOC284099;uncharacterized protein C17orf78 protein-coding ENSG00000167230 26831 08262 VALIDATED 1349999 C18orf12 chromosome 18 open reading frame 12 18 q21.1 44032670 44033206 + 84322 Q96KH6 AB027121 BAB47121;Q96KH6 Hs.334493 HEIL1;HsT2508 protein-coding 24918 2299180 C17orf98 chromosome 17 open reading frame 98 17 17 17 q12 33652304 33658595 - 34244867 34251168 - 36991341 36997642 - 16625196 388381 A8MV24 ABBA01031895;ABBA01031896;AC006449;AMYH01008368;AMYH01008369;AW182930;CH471152;DY654789;NM_001080465 A8MV24;EAW60538;NP_001073934 Hs.250182 1733352;2119964;2164499 D17S1181;D7S392;G38262 OTTHUMP00000163183;Uncharacterized protein LOC388381;hypothetical protein LOC388381;uncharacterized protein C17orf98 protein-coding ENSG00000214556 34492 VALIDATED 1626571 C17orf89 chromosome 17 open reading frame 89 17 17 17 q25.3 75843655 75845642 + 76827706 76829693 + 79213111 79215098 + 17287340;12477932 284184 A1L188;I3L0T5;I3L4C8 AA534550;ABBA01032133;AC027601;AMYH01008707;BC079831;BC127837;CH471099;NM_001086521 A1L188;AAI27838;EAW89640;NP_001079990 Hs.356545 2155294 RH47021 hypothetical protein LOC284184;uncharacterized protein C17orf89 protein-coding ENSG00000224877 33551 PREDICTED 2299182 C17orf99 chromosome 17 open reading frame 99 17 17 17 q25.3 72738832 72758765 + 76156151 76162364 + 76142434 76162364 + 15340161;12975309;11181995 100141515 K7EIQ9;K7ELL6;Q6UX52 ABBA01002942;ABBA01002943;AC021593;AK303128;AMYH01008663;AY358510;CH471099;NM_001163075 AAQ88874;BAG64234;EAW89498;NP_001156547;Q6UX52 Hs.633034 1694710;5015961;5109281 D15S1477;D1S1425;RH121932 FLJ50084;UNQ464 GLPG464;OTTHUMP00000204536;hypothetical protein LOC100141515;uncharacterized protein C17orf99 protein-coding ENSG00000187997 34490 VALIDATED 1602883 C17orf80 chromosome 17 open reading frame 80 17 17 17 q25.1 67811920 67828219 + 68740371 68756693 + 71228776 71245098 + 6480464 17213182;16381901;15489336;12477932;11230166;11076863;8889548 55028 I3L072;J3KT60;J3KTJ7;J3QLV1;Q9BSJ5 ABBA01028869;ABBA01028870;AC087301;AC097641;AK000728;AK027166;AK292838;AK301905;AL136740;AMYH01008618;AY163812;AY239293;BC005005;BU736238;BU788930;CH471099;DT220543;NM_001100621;NM_001100622;NM_017941 AAH05005;AAO25513;AAP72185;BAA91344;BAB15680;BAF85527;BAH13581;CAB66674;CAL38003;EAW89117;EAW89118;EAW89119;EAW89120;NP_001094091;NP_001094092;NP_060411;Q9BSJ5 Hs.12929 1739645;1848606;1849317;1849319;2137883 A006I05;D17S1722E;D17S602;G20831;RH36218 FLJ20721;HLC-8;MIG3;SPEP1 cell migration-inducing gene 3 protein;human lung cancer oncogene 8 protein;lung cancer-related protein 8;migration-inducing protein 3;sperm-expressed protein 1;uncharacterized protein C17orf80 protein-coding ENSG00000141219 29601 17108 VALIDATED 1626518 C18orf33 chromosome 18 open reading frame 33 18 q22.3 70946828 70947196 - 14702039 100113406 AC015819;AK096231;XM_001714254;XM_001721238;XM_001721257 BAC04734;Q8N8S9;XP_001714306;XP_001721290;XP_001721309 Hs.638428 FLJ38912 protein-coding 31691 1354305 C18orf15 chromosome 18 open reading frame 15 18 13229542 13230722 + 14702039 147276 Q96N68 AK055900 1762767;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;SHGC-146549 26447 1354418 C18orf41 chromosome 18 open reading frame 41 401894 XM_377496 29311 1354365 C18orf23 chromosome 18 open reading frame 23 18 42168837 42169319 + 14702039 147341 AK091537;NM_152470 5493135 UniSTS:484412 26612 5131749 C18orf42 chromosome 18 open reading frame 42 18 18 18 p11.31 5028106 5081689 - 5135276 5187507 - 5143672 5197255 - 16344560 642597 J3KS16;P0CW23 ABBA01049876;AMYH01008784;AP001496;AP005380;NM_001145194 NP_001138666;P0CW23 Hs.437160 1682856;1734590;2159260 D18S943E;GDB:313337;RH91766 hypothetical protein LOC642597;putative uncharacterized protein C18orf42 protein-coding 28285 VALIDATED 1606638 C17orf97 chromosome 17 open reading frame 97 17 17 17 p13.3 361212 365198 + 260434 264713 + 260118 264457 + 6480464 12477932 400566 H7C5B9;I3L0T0;Q6ZQX7 ABBA01015238;AC141424;AK128660;AMYH01007974;BC057385;BC070116;BC141806;BG056786;NM_001013672 AAH57385;AAH70116;AAI41807;BAC87555;NP_001013694;Q6ZQX7 Hs.499607 1656015 RH12536 OTTHUMP00000216306;hypothetical protein LOC400566;uncharacterized protein C17orf97 protein-coding ENSG00000187624 33800 18416 VALIDATED 1347622 C18orf21 chromosome 18 open reading frame 21 18 18 18 q12.2 30360467 30367120 + 31806586 31813239 + 33552588 33559250 + 737633;6480464 12477932 16964243;15489334;14702039;21832049;21139048 83608 K7EM84;L7N2F3;Q32NC0;Q8TBS0 AA648431;ABBA01022435;AC091060;AF277182;AF277189;AMYH01008938;AW967900;AY631401;BC025950;BC108730;BC119765;BC119766;BX460890;CH471088;DN991579;NM_001201474;NM_001201475;NM_001201476;NM_031446;W84353 AAH25950;AAI08731;AAI19766;AAI19767;AAK07541;AAK07547;AAT51696;ABM83053;ABM86246;EAX01362;EAX01363;EAX01364;NP_001188403;NP_001188404;NP_001188405;NP_113634;Q32NC0 Hs.37883 1857457 RH45429 HsT3108;MGC131953;PNAS-124;PNAS-131;XTP13 HBV X-transactivated gene 13 protein;HBV X-transactivated protein 13;HBV XAg-transactivated protein 13;OTTHUMP00000158663;OTTHUMP00000163408;UPF0711 protein C18orf21;chromosome 18 open reading frame 21;hypothetical protein LOC83608 protein-coding ENSG00000141428 28802 12688 VALIDATED 1354422 C18orf57 chromosome 18 open reading frame 57 q22.3 54523 AL137361 Hs.98173 DKFZP434C0826 hypothetical protein LOC54523;uncharacterized protein LOC54523 protein-coding 25254 1604808 C17orf85 chromosome 17 open reading frame 85 17 17 17 p13.2 3726255 3761355 - 3661566 3675071 - 3710042 3749545 - 21145461;16344560;14702039;12477932;11412301;8125298;21832049;15342556;19471022;21693764;8889548;21628590 55421 K7ELP6;K7EQA5;Q53F19 ABBA01054747;ABBA01054748;AC005940;AC116914;AJ277841;AK056724;AK125048;AK223470;AMYH01008033;BC010707;BC011733;BM974475;BP344033;CH471108;CS185602;DA403386;DA815746;DA855232;NM_001114118 AAH10707;AAI46420;AAI48857;BAD97190;BAG54129;CAB91001;CAJ42783;EAW90477;EAW90478;EAW90479;NP_001107590;Q53F19 Hs.120963 1740125;2109401;2144294;2149683;2173821;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;D9S1767;HSA277841__6597;STS-H93344;WI-11637;WI-22144 ELG;FLJ32162;HSA277841 ELG protein;uncharacterized protein C17orf85 protein-coding 24612 17116 VALIDATED 1318467 C18orf25 chromosome 18 open reading frame 25 18 18 18 q21.1 40560969 40654391 + 42007986 42100953 + 43753988 43846955 + 737633;6480464 12477932 19240061;17081983;16344560;16189514;15722956;15489334;22863883;19322201;19471022;21139048;21693764 147339 K7EQH1;K7ER64;Q5BIX2;Q96B23 ABBA01022321;ABBA01022322;ABBA01022323;ABBA01022324;AC021763;AC118647;AI374757;AK289738;AK292981;AL713661;AL832027;AMYH01008973;BC016149;BC084579;BG497739;BK005125;BM561576;BU192741;BU663975;BX640683;CH471088;CS185648;DA818562;DB284444;NM_001008239;NM_145055 AAH16149;AAH84579;BAF82427;BAF85670;CAD28470;CAD89920;CAE45812;CAJ42829;DAA05329;EAX01472;EAX01473;NP_001008240;NP_659492;Q96B23 Hs.116486 1342237;1686100;2123242;2150736 D18S1143;RH36388;RH91500;WI-14742 ARKL1;MGC12909;MGC87799 ARKadia-like 1;hypothetical protein LOC147339;uncharacterized protein C18orf25 protein-coding ENSG00000152242 28172 12690 VALIDATED 1349119 C18orf61 uncharacterized LOC497259 18 p11.22 12200778 12224710 + 497259 AA393962;AA776829;ABBA01074011;AI125564;AI202918;AI683092;AMYH01008829;AMYH01008830;AP005264;NR_049896 Hs.451609;Hs.541137 chromosome 18 open reading frame 61 APPROVED miscrna 26362 PREDICTED 5132403 C18orf63 chromosome 18 open reading frame 63 18 18 18 q22.3 68850455 68893768 + 70134026 70177404 + 71983110 72026422 + 644041 J3QRQ0;Q68DL7 ABBA01056325;AC008021;AC090398;AMYH01009096;CR749350;HC006926;NM_001174123 CAH18203;CBH19268;NP_001167594;Q68DL7 Hs.465414 1763713 SHGC-147382 DKFZP781G0119 hypothetical protein LOC644041;uncharacterized protein C18orf63 protein-coding ENSG00000206043 40037 PREDICTED 1345723 C18orf58 chromosome 18 open reading frame 58 18 p11.22 10784068 10880690 - 14702039 284222 AK092226;AP005117;AP005120;NM_173817 BAC03832;NP_776178;Q8NAR6 Hs.436902 FLJ34907 protein-coding 26631 1626573 C18orf32 chromosome 18 open reading frame 32 18 18 18 q21.1 43863389 43868956 - 45262028 45267599 - 47007548 47013644 - 6480464 12761501;12477932;8889548;21139048;21890473 497661 Q8TCD1 AB097012;ABBA01018653;AC100778;AK027111;AK291882;AMYH01008990;BC022357;BC093004;BF210402;BF512018;BP395434;CB852935;NM_001035005;NM_001199346 AAH22357;AAH93004;ADR82680;BAC77365;BAF84571;NP_001030177;NP_001186275;Q8TCD1 Hs.603040 1660968;1730777;1852898;2126975 D18S103E;D18S1247;RH70037;SGC30182 FLJ23458 UPF0729 protein C18orf32;hypothetical protein LOC497661;putative NF-kappa-B-activating protein 200;putative NFkB activating protein protein-coding 31690 VALIDATED 1603142 C18orf49 chromosome 18 open reading frame 49 q21.33 12477932 400653 AK000229;BC047606 Hs.699275 FLJ20222 protein-coding 25977 1319491 C19orf12 chromosome 19 open reading frame 12 This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 19 19 19 q12 26887993 26904652 - 34881633 34898292 - 30189793 30206696 - 737633;6480464 12477932 16344560;14702039;22704260;20098747;21832049;23269600;23166001;21981780;23857908;22691760 83636 F8W6J3;K7EPS8;Q9NSK7 ABBA01039545;ABBA01039546;ABBA01039547;AC010513;AC010644;AK057185;AL162066;AMYH01009673;BC004957;BC009946;BC017211;BC063518;BG720088;BG722048;BI753584;DA064969;DA189248;DA348401;DA708831;DB541407;NG_031970;NM_001031726;NM_001256046;NM_001256047;NM_031448;NR_045690;NR_045691;NR_045692 AAH04957;AAH09946;AAH17211;AAH63518;BAG51878;CAB82403;NP_001026896;NP_001242975;NP_001242976;NP_113636;Q9NSK7 Hs.529094 1666497;1685656;1689257;1778111;1853830;2116023;2134479;5015619;5022200;5037552 D11S3114;D19S1092;D8S2279;L18426;RH65212;RH65823;RH65947;RH76650;SGC34217;STS-N21279 DKFZp762D096;MGC10922;NBIA3;NBIA4;SPG43 OTTHUMP00000194763;OTTHUMP00000194765;hypothetical protein LOC83636;neurodegeneration with brain iron accumulation 3;neurodegeneration with brain iron accumulation 4;protein C19orf12;spastic paraplegia 43 (autosomal recessive);uncharacterized protein C19orf12 APPROVED protein-coding 25443 12696 614297;614298 VALIDATED 1342903 C19orf18 chromosome 19 open reading frame 18 19 19 19 q13.43 55513281 55529383 - 63161617 63177716 - 58469805 58485902 - 737633;6480464 12477932 15489334;21832049;23251661 147685 Q8NEA5 ABBA01020789;AC010326;AMYH01010031;BC033933;CH471135;NM_152474 AAH33933;EAW72545;NP_689687;Q8NEA5 Hs.134209 MGC41906 hypothetical protein LOC147685;uncharacterized protein C19orf18 protein-coding ENSG00000177025 28642 12699 PREDICTED 1323450 C18orf8 chromosome 18 open reading frame 8 This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013] 18 18 18 q11.2 17899440 17927737 + 19337460 19365744 + 21083462 21111746 + 737633;6480464 12477932 17081983;15489334;14702039;20562859;22939629;21139048;23022380 29919 B7Z201;B7Z2Y1;B7Z3Q1;K7EIS6;K7EKN1;K7EL80;K7ENL9;K7EQ65;K7EQJ3;Q96DM3 ABBA01022632;AC010853;AC026634;AF143536;AK027106;AK057192;AK294169;AK295246;AK296230;AMYH01008887;BC002950;BC008305;CH471088;CN481504;NG_033119;NM_001276342;NM_013326;NR_075075;NR_075076 AAD33909;AAH02950;AAH08305;BAB71377;BAH11687;BAH12017;BAH12287;EAX01155;EAX01156;EAX01157;NP_001263271;NP_037458;Q96DM3 Hs.464779 1692998;1699642;1730145;2148313;2167999;2171440;5018027 AL034225;D18S75E;NPC1_s22;RH103425;RH48826;RH67909;WI-14881 FLJ23453;HsT2591;MIC1;Mic-1 colon cancer associated protein Mic1;colon cancer-associated protein Mic1;uncharacterized protein C18orf8 protein-coding ENSG00000141452 24326 12693 VALIDATED 1345093 C18orf56 chromosome 18 open reading frame 56 18 18 18 p11.32 524281 533121 - 639620 648340 - 649620 658340 - 6480464 18482256;8889548;16189514;12477932;19913121;20628086 494514 Q8TAI1 ABBA01049815;ABBA01049816;AK289986;AMYH01008772;AMYH01008773;AP001178;BC028301;BM695182;CH471113;NM_001012716 AAH28301;ADZ15719;BAF82675;EAX01723;NP_001012734;Q8TAI1 Hs.274959 2109167;2138368;2142990 CLUL1_9521;SHGC-31651;WI-22706 putative uncharacterized protein C18orf56 protein-coding ENSG00000176912 29553 18668 VALIDATED 1348009 C19orf31 chromosome 19 open reading frame 31 19 p13.3 4860216 4861013 - 14702039 404664 Q8N1I2 AC027319;AK098038;NM_001014373 BAC05219;NP_001014395;Q8N1I2 Hs.620488 FLJ40719 protein-coding 17573 1348374 C18orf54 chromosome 18 open reading frame 54 18 18 18 q21.2 48740968 48764203 + 50139169 50162386 + 51885171 51908404 + 6480464 16189514;15489334;14702039;12477932;17207965;19322201 162681 I7GY12;J3KRX3;J3KS56;Q8IYD9 AB267906;AB330143;AB330144;AB353076;AB353077;ABBA01018716;AC087395;AC093462;AK126503;AMYH01009013;BC036054;BC043651;BX640877;CH471096;NM_173529 AAH36054;ADQ32333;BAC86570;BAM28642;BAM28643;BAM34476;BAM34477;BAM35939;CAE45934;EAW63006;NP_775800;Q8IYD9 Hs.208701 1662947;1691136;1701048 RH104151;RH45188;RH80534 LAS2;MGC33382 OTTHUMP00000163556;hypothetical protein LOC162681;hypothetical protein V1;hypothetical protein V3;hypothetical protein V4;hypothetical protein V5;lung adenoma susceptibility protein 2;uncharacterized protein C18orf54 protein-coding ENSG00000166845 13796 11334 613258 VALIDATED 1316225 C19orf26 chromosome 19 open reading frame 26 19 19 19 p13.3 1164180 1172223 - 1180947 1188990 - 1229947 1237990 - 737633;6480464 12477932 16341674;17081983;15489334;15057824;17207965 255057 K7EIS9;K7EJP2;K7ELJ5;Q8N350 ABBA01002632;ABBA01002633;ABBA01002634;ABBA01002635;ABBA01002636;AC004221;AMYH01009232;AMYH01009233;AMYH01009234;AMYH01009235;AMYH01009236;AMYH01009237;AMYH01009238;AW163263;BC028156;BM263341;BM743507;BX094586;CH471139;CK824551;NM_152769 AAC04305;AAH28156;ADQ31791;EAW69535;EAW69536;EAW69537;NP_689982;Q8N350 Hs.346575 1681596;2219926 MIDN__6314;RH80863 DOS;MGC40084 downstream of Stk11;protein Dos protein-coding ENSG00000099625 28617 16627 VALIDATED 1346714 C19orf24 chromosome 19 open reading frame 24 19 19 19 p13.3 1209752 1213531 + 1226551 1230227 + 1275520 1279243 + 737633;6480464 12477932 16847563;15489334;14702039;8889548;8125298 55009 Q9BVV8 ABBA01002636;AC004258;AK000647;AK096105;AK225502;AMYH01009239;BC000890;BC012080;BG333480;BM675280;BX402818;CH471139;NM_017914 AAH00890;BAA91305;EAW69518;EAW69519;NP_060384;Q9BVV8 Hs.591383 1853080;2150989 A008K10;WI-17337 FLJ20640 OTTHUMP00000204659;OTTHUMP00000204660;hypothetical protein LOC55009;uncharacterized membrane protein C19orf24 protein-coding 26073 12702 VALIDATED 1345552 C19orf10 chromosome 19 open reading frame 10 The protein encoded by this gene was previously thought to support proliferation of lymphoid cells and was considered an interleukin. However, this activity has not been reproducible and the function of this protein is currently unknown. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 4594232 4607089 - 4608557 4621415 - 4657557 4670415 - 6480464 17362502;16713569;15489334;15057824;14641539;12477932;12077275;16169070;21128247;21139048;21906983 56005 M0QXF7;M0QYN0;Q969H8 ABBA01056051;ABBA01056052;AC005339;AC005594;AF282264;AK098829;AL365373;AL365374;AMYH01009341;AMYH01009342;BC003639;BC010129;BC014655;BG484758;CH471139;NM_019107 AAC27824;AAC33800;AAH03639;AAH10129;AAH14655;CAB96947;CAB96948;EAW69202;EAW69203;NP_061980;Q969H8 Hs.465645 1658231 RH16158 EUROIMAGE1875335;IL25;IL27;IL27w;R33729_1;SF20 UPF0556 protein C19orf10;hypothetical protein LOC56005;interleukin 25;interleukin 27 working designation;interleukin-25;stromal cell-derived growth factor;stromal cell-derived growth factor SF20 APPROVED protein-coding ENSG00000074842 16948 08415 606746 VALIDATED 2302125 C19orf38 chromosome 19 open reading frame 38 19 19 19 p13.2 10853950 10875203 + 10820089 10841473 + 10959106 10980360 + 6480464 15057824;12477932 255809 A8MVS5 ABBA01029889;ABBA01029890;ABBA01029891;ABBA01029892;ABBA01029893;AC007565;AMYH01009480;BC157863;CH471106;NM_001136482 A8MVS5;AAI57864;EAW84154;NP_001129954 Hs.440535 HIDE1 Highly expressed in immature dendritic cell transcript 1;protein HIDE1 protein-coding ENSG00000214212 34073 PROVISIONAL 1352021 C19orf35 chromosome 19 open reading frame 35 19 19 19 p13.3 2208806 2216106 - 2225631 2233175 - 2274631 2282181 - 14702039;12477932;21998595 374872 K7ELE7;Q6ZS72 ABBA01002716;ABBA01002717;AC004152;AK127680;AMYH01009278;AMYH01009279;BC107678;CH471139;NM_198532 BAC87082;EAW69392;NP_940934;Q6ZS72 Hs.511803 5014051;5015619;5037552 D11S3114;D8S2278;D8S2279 FLJ45778 putative uncharacterized protein C19orf35 protein-coding ENSG00000188305 24793 12707 VALIDATED 1352315 C19orf25 chromosome 19 open reading frame 25 19 19 19 p13.3 1407199 1413220 - 1424200 1430228 - 1473200 1479228 - 6480464 16189514;16303743;15489334;15342556;14702039;12477932;9110174;8619474;19913121;20628086;17207965;22939629;20360068;21628590 148223 E7EP72;K7EK56;K7ELZ1;K7ENK8;K7EQW1;K7ER12;Q9UFG5 ABBA01002646;AC027307;AK075267;AK093985;AK297944;AL122089;AMYH01009251;AY007120;BC018441;BP210473;CH471139;CQ783391;NM_152482 AAH18441;ADQ32390;BAC04262;BAG52098;BAG60260;CAB59260;CAF86596;EAW69495;NP_689695;Q9UFG5 Hs.532840 1688400;1739943;2116335;2154576;5123943 D2S2123;RH15927;RH39051;STS-N99984;WI-14332 FLJ36666 UPF0449 protein C19orf25;hypothetical protein LOC148223 protein-coding ENSG00000119559 26711 12703 VALIDATED 1354281 C19orf33 chromosome 19 open reading frame 33 19 19 19 q13.2 35597040 35597882 + 43486644 43487486 + 38794804 38795646 + 6480464 11606055;18507030;17309599;17081983;16189703;15489334;14981917;12477932;11080599;20432246;21832049;22886722 64073 K7EP05;K7EQG3;Q9GZP8 AB038317;AB038318;ABBA01040678;AC011479;AF213678;AF325216;AMYH01009779;BC008888;BC014264;BC060319;CH471126;NM_033520 AAG43574;AAH14264;AAH60319;AAK01421;BAB18465;BAB18466;EAW56769;EAW56770;NP_277055;Q9GZP8 Hs.631544 1685772 RH94089 H2RSP;IMUP;IMUP-1;IMUP-2;MGC39135;MGC75180 HAI-2 related small protein;HAI-2-related small protein;hepatocyte growth factor activator inhibitor type 2-related small protein;immortalization up-regulated protein;immortalization-upregulated protein protein-coding ENSG00000167644 16668 12706 PROVISIONAL 1602089 C19orf44 chromosome 19 open reading frame 44 19 19 19 p13.11 16509042 16534003 + 16468205 16493163 + 16607205 16632163 + 6480464 16344560;12477932;16196087;21900206 84167 M0QXR9;M0QYD0;M0QZ23;M0R141;M0R1E2;M0R2B3;Q9H6X5 ABBA01051148;ABBA01051149;AC008764;AK025395;AK026145;AK225118;AK225678;AK297781;AK311324;AMYH01009562;BC027869;CH471106;DA491717;NG_031959;NM_032207 AAH27869;ADZ15432;BAB15125;BAG60125;EAW84547;EAW84548;NP_115583;Q9H6X5 Hs.631627 1655567;1666730;1722419;1770250;2109135;2132389;2132914;2132916;5022651 1980;A001Y07;CHERP_9130;D11S2921;D19S680E;G19773;G60283;RH16018;RH47535 FLJ21742;FLJ22492 hypothetical protein LOC84167;uncharacterized protein C19orf44 protein-coding ENSG00000105072 26141 08641 VALIDATED 1605898 C19orf40 chromosome 19 open reading frame 40 FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008] 19 19 19 q13.11 30156740 30161565 + 38155018 38159814 + 33463148 33467974 + 6480464 18995830;18206976;18174376;17289582;16344560;15489334;12477932;18285517;20347428;20670894;17207965;20064461;20347429;21832049;18029348;22705371 91442 K7EKQ4;Q9BTP7 ABBA01039606;AC011449;AK128668;AMYH01009698;BC003535;BC010170;BC020247;DA006539;NM_152266 AAH03535;AAH10170;AAH20247;ADQ32151;BAG54708;NP_689479;Q9BTP7 Hs.579899 5022322;5022463 D11S2560;D3S1673 FAAP24;FLJ46828;MGC32020 Fanconi anemia-associated protein of 24 kDa;Fanconi anemia-associated protein, 24 kDa APPROVED protein-coding 28467 14547 610884 VALIDATED 1602810 C19orf45 chromosome 19 open reading frame 45 19 19 19 p13.2 7434951 7445845 + 7468485 7479336 + 7562445 7573336 + 6480464 16344560;14702039;12477932 374877 M0QY34;M0QYK1;M0R096;M0R0L7;Q8NA69 ABBA01010901;AC008878;AK093103;AK301623;AMYH01009405;BC029824;BC034779;DB037908;NM_198534 AAH29824;AAH34779;BAC04057;BAG63108;NP_940936;Q8NA69 Hs.631862 1701444;1760703;2220242 AB070080;RH104354;SHGC-144236 FLJ35784;FLJ56642 OTTHUMP00000211650;hypothetical protein LOC374877;uncharacterized protein C19orf45 protein-coding ENSG00000198723 24745 13420 VALIDATED 1604305 C19orf43 chromosome 19 open reading frame 43 19 19 19 p13.2 12731165 12735240 - 12702454 12706529 - 12841454 12845529 - 16189514;15489334;14702039;12477932;21832049;22939629;17332742;21890473;21906983 79002 K7ELS0;K7EN60;K7ERU7;Q9BQ61 ABBA01029777;AC018761;AF061732;AK027588;AK315754;AMYH01009495;BC000216;BC004533;BC015347;BC040846;CH471106;NM_024038 AAG43143;AAH00216;AAH04533;AAH15347;ABM82375;ABM85554;BAG38108;EAW84302;NP_076943;Q9BQ61 Hs.515155 1646898;1848376 D1S3567;RH16594 MGC2803;fSAP18 My029 protein;hypothetical protein LOC79002;uncharacterized protein C19orf43 protein-coding ENSG00000123144 28424 14528 PREDICTED 1605879 C19orf47 chromosome 19 open reading frame 47 19 19 19 q13.2 37626510 37653832 - 45518810 45546133 - 40826967 40854434 - 16381901;15489336;14702039;12477932;11230166;11076863;19616115 126526 J3QKY6;J3QKZ5;J3QS16;J3QS80;J9JIE4;Q8N9M1 ABBA01040751;ABBA01040752;ABBA01040753;AC118344;AI394044;AK094207;AL834131;AMYH01009800;BC023623;BC027935;BI916290;BM459040;CH471126;CR936760;NM_001256440;NM_001256441;NR_046202 AAH23623;AAH27935;ACE86598;ACE87279;BAC04311;CAD38848;CAL37407;CAL37488;CAL38418;CAL38618;EAW56945;EAW56946;EAW56947;EAW56948;EAW56949;NP_001243369;NP_001243370;Q8N9M1 Hs.631557 1768544;2139416;5109565 D19S624E;RH48175;SHGC-63610 DKFZp686P05129;FLJ36888 hypothetical protein LOC126526;uncharacterized protein C19orf47 protein-coding ENSG00000160392 26723 08216 VALIDATED 1605904 C19orf49 chromosome 19 open reading frame 49 19 q13.2 47573956 47574759 + 12477932 90198 Q86XP5 AC011497;AF497566;AK026018;BC093649;BC111942;BF941059;CB122799;NM_178121 AAH93649;AAI11943;AAO85531;NP_835222;Q86XP5 Hs.558582 FLJ22365;MGC138147;SBP1 protein-coding 24901 18019 1603189 C19orf48 chromosome 19 open reading frame 48 19 19 19 q13.33 48351918 48358943 - 55992773 55999786 - 51300961 51307974 - 6480464 18698046;15489334;12477932;12452007;8889548;17207965;20686220 84798 M0QXL0;M0QZ14;M0QZC8;M0R1J5;M0R1Y9;M0R3D1;Q6RUI8 ABBA01068298;AC010325;AMYH01009945;AY491972;BC006151;BC037227;BC051842;BM802982;BX508552;CF141966;CF146381;CH471135;NM_199249;NM_199250 AAH06151;AAH37227;AAH51842;AAR36899;ADQ32837;EAW71905;EAW71906;EAW71907;EAW71908;EAW71909;NP_954857;NP_954858;Q6RUI8 Hs.256301 1734674;1852635 D19S659E;D19S681E MGC13170 multidrug resistance-related protein;uncharacterized protein C19orf48 protein-coding ENSG00000167747 29667 14437 VALIDATED 1602195 C19orf52 chromosome 19 open reading frame 52 19 19 19 p13.2 10934265 10935758 + 10900424 10901917 + 11039424 11040917 + 6480464 15489334;12477932;21163940;21139048;21890473;21906983 90580 K7ENF5;Q9BSF4 ABBA01029885;AC011442;AMYH01009480;BC005075;BC007244;BC011833;CH471106;NM_138358 AAH05075;AAH07244;AAH11833;EAW84160;NP_612367;Q9BSF4 Hs.164026 1713683;2162847 G09492;RH120724 hypothetical protein LOC90580;uncharacterized protein C19orf52 protein-coding ENSG00000142444 25152 14275 PREDICTED 1606305 C19orf53 chromosome 19 open reading frame 53 19 19 19 p13.2 13779045 13783371 + 13746257 13750587 + 13885257 13889587 + 6480464 16344560;15635413;15489334;12477932;11042152;10540346;21628590;20379614;16196087;21906983 28974 K7EIU1;K7EN09;K7ESE5;Q9UNZ5 ABBA01029722;AC008686;AF078852;AF086483;AI689503;AK311855;AMYH01009511;BC015465;CH471106;DA768829;NM_014047 AAD44484;AAH15465;ABM82495;ABM85687;BAG34796;EAW84372;NP_054766;Q9UNZ5 Hs.231616 1684556;1848706;1857670;2109405 A007D32;D19S1134;HSPC023_9568;RH91188 HSPC023;LYDG10 leydig cell tumor 10 kDa protein homolog protein-coding 24991 13687 VALIDATED 1603955 C19orf57 chromosome 19 open reading frame 57 19 19 19 p13.12 13886915 13910654 - 13854168 13877909 - 13993168 14016909 - 14702039;12477932;16189514;8228263;19060904;20098747;21832049 79173 K7EIN8;K7ELK3;K7EMZ7;K7EP60;K7ERY6;Q0VDD7 ABBA01029706;ABBA01029707;ABBA01029708;ABBA01029709;AC020916;AK097431;AMYH01009516;BC002891;BC012945;BC119718;BC119719;CH471106;L17327;NM_024323 AAB02340;AAH02891;AAH12945;AAI19720;BAC05049;EAW84376;EAW84377;EAW84378;EAW84379;NP_077299;Q0VDD7 Hs.143288 1673518;2174125 RH47778;RH69020 MGC11271;MGC149720 hypothetical protein LOC79173;pre-T/NK cell associated protein (3B3);pre-T/NK cell-associated protein 3B3;uncharacterized protein C19orf57 protein-coding ENSG00000132016 28153 14415 PREDICTED 1604490 C19orf54 chromosome 19 open reading frame 54 19 19 19 q13.2 38047186 38056250 - 45938601 45948248 - 41246761 41255828 - 16344560;15146197;12477932;21890473 284325 M0QXR4;M0R0A6;M0R2U9;M0R322;M0R368;Q5BKX5;Q6ZWG5 ABBA01040786;AC020945;AI250667;AK123126;AK298068;AK310021;AMYH01009807;BC020262;BC090894;BC131602;BI521309;CH471126;CN281611;DA073426;NM_198476 AAH90894;BAC85538;BAG60359;EAW56994;NP_940878;Q5BKX5 Hs.585105 1653051;1789038;2176103;5015619 D11S3114;G65653;RH67887;SHGC-31377 FLJ17063;FLJ41131;MGC103014 OTTHUMP00000196530;UPF0692 protein C19orf54;hypothetical protein LOC284325 protein-coding ENSG00000188493 24758 13449 VALIDATED 1626536 C19orf64 chromosome 19 open reading frame 64 19 p13.3 3542443 3544539 + 14702039 100113377 Q8N7K9 AK098244 BAC05269;Q8N7K9 Hs.266873 protein-coding 33549 1603570 C19orf55 chromosome 19 open reading frame 55 19 19 19 q13.12 32962521 32973554 + 40940884 40951917 + 36249044 36260077 + 6480464 16344560;14702039;12477932;19322201 148137 C9JFW7;F5GXU6;F8W7U6;H0YFI8;K7EP81;K7ER93;M0QY86;M0QZ53;Q2NL68 ABBA01018764;AC002398;AK055219;AK124144;AL833894;AMYH01009732;BC017947;BC110893;DB086668;NM_001039887 AAH17947;AAI10894;BAB70878;CAD38750;NP_001034976;Q2NL68 Hs.527982 5014051;5015619;5022200;5022588;5037552;5117897;5118444 D11S3114;D11S3316;D5S1597E;D8S2278;D8S2279;GDB:631813;L18426 DKFZp434C2231;FLJ30657;MGC131952 OTTHUMP00000237932;hypothetical protein LOC148137;uncharacterized protein C19orf55 protein-coding ENSG00000167595 25204 14079 VALIDATED 2299179 C19orf69 chromosome 19 open reading frame 69 19 19 19 q13.2 38748919 38750526 + 41949063 41950670 + 41949063 41950670 + 15057824 100170765 A6NGS2 ABBA01040810;AC011526;AMYH01009820;CB047448;NM_001130514 A6NGS2;NP_001123986 Hs.649452 hypothetical protein LOC100170765;uncharacterized protein C19orf69 protein-coding ENSG00000204978 34497 PREDICTED 2311616 C19orf67 chromosome 19 open reading frame 67 19 19 p13.12 14052952 14057439 - 14192444 14196634 - 15057824 646457 A6NJJ6 ABBA01029692;AC022098;AMYH01009519;DN831393;DR008137;DY655148;HY028687;HY212999;NM_001277378;XM_003403704;XM_003960759;XM_929382 A6NJJ6;NP_001264307;XP_003403752;XP_003960808;XP_934475 OTTHUMP00000240721;OTTHUMP00000240722;UPF0575 protein;UPF0575 protein C19orf67;UPF0575 protein C19orf67-like;chromosome 19 open reading frame 67;hypothetical protein LOC646457 protein-coding ENSG00000188032 34354 VALIDATED 2301120 C19orf71 chromosome 19 open reading frame 71 19 19 19 p13.3 3475965 3480838 + 3488848 3495991 + 3539155 3544028 + 15057824 100128569 A6NCJ1 ABBA01002828;ABBA01002829;AC005786;AC005787;AI138384;AMYH01009313;BX396051;CH471139;DY654838;NM_001135580 A6NCJ1;EAW69312;NP_001129052 Hs.664978 1851490 RH48811 Uncharacterized protein ENSP00000327950;hypothetical protein LOC100128569;uncharacterized protein C19orf71 protein-coding ENSG00000183397 34496 VALIDATED 1604975 C19orf59 chromosome 19 open reading frame 59 This gene encodes a single-pass transmembrane protein. Based on its expression pattern, it is speculated to be involved in regulating mast cell differentiation or immune responses. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 7613125 7615901 + 7647943 7650719 + 7741943 7744719 + 6480464 15953541;15489334;12477932 199675 M0R0S5;Q8IX19 ABBA01010892;AC008763;AF461155;AF461156;AMYH01009412;BC035847;BC104796;BC104798;CA309750;CH471139;NM_174918 AAI04797;AAI04799;AAO15597;AAO15598;EAW69013;EAW69014;NP_777578;Q8IX19 Hs.709539 MCEMP1;MGC132456 mast cell-expressed membrane protein 1 APPROVED protein-coding 27291 14119 609565 REVIEWED 1344891 C19orf8 chromosome 19 open reading frame 8 140783 17974 1605988 C19orf60 chromosome 19 open reading frame 60 19 19 19 p13.11 18601706 18605350 + 18560495 18564147 + 18699495 18703147 + 6480464 14702039;16344560;12477932;16189514;17207965;19060904;19615732;19770013;21900206 55049 M0QYI9;M0R0T3;Q96EN9 ABBA01051272;AC003112;AK000857;AK054670;AK091925;AK094710;AMYH01009595;BC012078;BI836487;CH471106;DB254892;NM_001100418;NM_001100419 AAH12078;ADQ32374;BAA91400;BAC03773;EAW84719;EAW84720;EAW84721;EAW84722;EAW84723;NP_001093888;NP_001093889;Q96EN9 Hs.655317 1685129;1691028;5015404;5015619;5015861;5020946;5022578;5022651;5037552;7185938 D10S16;D11S2921;D11S3114;D1S1423;D8S2279;L17705;L17971;RH68226;RH99007 FLJ20850;FLJ30108;FLJ34606;FLJ37391 hypothetical protein LOC55049;uncharacterized protein C19orf60 protein-coding ENSG00000006015 26098 07948 VALIDATED 1602629 C19orf68 chromosome 19 open reading frame 68 19 19 19 q13.33 45540366 45565746 + 53365761 53392689 + 48675210 48700516 + 6480464 12477932;19773279;20379614;21906983 374920 Q86XI8 ABBA01033008;ABBA01033009;AC011466;AMYH01009899;AMYH01009900;BC043386;CH471177;XM_001713770;XM_001713771;XM_003960765 AAH43386;EAW52318;Q86XI8;XP_001713822;XP_001713823;XP_003960814 Hs.664054 1678565 RH93332 MGC50339 hypothetical protein LOC374920;uncharacterized protein C19orf68 protein-coding 34495 14189 MODEL 5489342 C19orf81 chromosome 19 open reading frame 81 19 19 q13.33 55844514 55854966 + 51152702 51162567 + 342918 C9J6K1;H7BZS0 ABBA01068309;AC008743;AMYH01009942;BX281890;NM_001195076 C9J6K1;NP_001182005 Hs.531650 OTTHUMP00000209170;OTTHUMP00000209171;hypothetical protein LOC342918;putative uncharacterized protein C19orf81 protein-coding ENSG00000235034 40041 VALIDATED 1607022 C19orf80 chromosome 19 open reading frame 80 19 19 19 p13.2 11245140 11247464 + 11209817 11213619 + 11350295 11352619 + 6480464 12975309;12477932;15342556;23261442;23505323;20686565;22809513;22569073;21988832;23150577 55908 K7EIY2;K7EJY6;Q6UXH0 ABBA01029868;AC011472;AF271350;AMYH01009483;AY358356;BC113823;BF511595;BP316755;CH471106;NG_031953;NM_018687 AAF76204;AAI13824;AAI41564;AAI46553;AAQ88722;EAW84185;EAW84186;NP_061157;Q6UXH0 Hs.534467 ANGPTL8;PRO1185;PVPA599;RIFL;TD26 angiopoietin-like protein 8;betatrophin;hepatocellular carcinoma-associated gene TD26;hepatocellular carcinoma-associated protein TD26;lipasin APPROVED protein-coding ENSG00000130173 24933 14245 VALIDATED 1353943 C19orf9 chromosome 19 open reading frame 9 199775 BC021822 20172 1605065 C19orf66 chromosome 19 open reading frame 66 19 19 19 p13.2 10092297 10099418 + 10057806 10064928 + 10196806 10203928 + 6480464 14702039;12477932;21044950 55337 K7ELT7;K7EML3;K7EMS9;K7EP02;Q9NUL5 ABBA01029948;AC020931;AK001098;AK002148;AK096142;AK098062;AL137694;AMYH01009467;BC010847;BC026180;BC035817;CH471106;CQ859736;DB481173;NM_018381 AAH10847;AAH26180;AAH35817;BAA92109;BAC04710;CAH25918;EAW84066;EAW84067;EAW84068;EAW84069;EAW84070;NP_060851;Q9NUL5 Hs.655613 1650218;1777662;2218724;5015961;5022322;5022578;5037552 ANGPTL6__4301;D11S2560;D15S1477;D19S1125;D1S1423;D8S2279;RH11710 FLJ11286;FLJ40743 UPF0515 protein C19orf66;hypothetical protein LOC55337 protein-coding ENSG00000130813 25649 07747 VALIDATED 3129877 C1DP2 C1D nuclear receptor corepressor pseudogene 2 10 10 10 q22.3 75782316 75783178 - 81781664 81782188 - 81791366 81792228 - 642538 ABBA01003815;AL356095;AMYH01002881;CH471142;NG_021450 EAW80418 bA369J21.3 pseudo 31660 VALIDATED 1602703 C19orf73 chromosome 19 open reading frame 73 19 19 19 q13.33 46488874 46489617 - 54313466 54314209 - 49621654 49622397 - 6480464 14702039;12477932;17207965 55150 Q9NVV2 ABBA01032941;AC008687;AK001352;AMYH01009909;BC051004;BC069669;BC069693;BC069712;BC069750;CH471177;NM_018111 AAH51004;AAH69669;AAH69693;AAH69712;AAH69750;ADQ32878;BAA91643;EAW52456;NP_060581;Q9NVV2 Hs.458310 FLJ10490 putative uncharacterized protein C19orf73 protein-coding ENSG00000221916 25534 07676 VALIDATED 3362449 C1DP1 C1D nuclear receptor corepressor pseudogene 1 10 10 10 p11.22 32564384 32565578 - 32839491 32840824 - 32799556 32800747 - 11311939 554049 ABBA01033381;AL354750;AMYH01002223;NG_005140 1647519;1679107;1680974 G23952;RH40315;RH69539 bA195O1.1 pseudo 31465 INFERRED 3129884 C1DP3 C1D nuclear receptor corepressor pseudogene 3 10 10 10 q22.3 75775107 75775960 - 81774447 81778155 - 81784144 81784997 - 20379614 642521 ABBA01003815;AL356095;AMYH01002881;NG_021448 bA369J21.2 pseudo 31661 VALIDATED 7245574 C19orf82 chromosome 19 open reading frame 82 12477932;14702039 284385 K7EIQ3 ABBA01029969;AC008759;AK097685;AMYH01009461;BC143540;DB487189;NM_001242812 NP_001229741 Hs.651747 1339347;1768469;1851448 D19S403;SHGC-7127;WI-11783 uncharacterized protein LOC284385 protein-coding ENSG00000267106 27613 VALIDATED 1353224 C1HR C1AGOH temperature sensitivity complementing 709 1227 2816606 C1DP4 C1D nuclear receptor corepressor pseudogene 4 10 10 10 q22.3 75790968 75791825 - 81790318 81790779 - 81800021 81800878 - 727879 ABBA01003814;AL356095;AMYH01002881;NG_021449 pseudo 38028 VALIDATED 1601829 C19orf70 chromosome 19 open reading frame 70 19 19 19 p13.3 5615800 5618278 - 5629433 5631911 - 5678433 5680911 - 6480464 17353931;14702039;12477932;22939629;21890473;21906983 125988 K7EIR2;K7EKR0;Q5XKP0 AB167391;ABBA01056001;AC011499;AK091768;AMYH01009363;BC009557;BC042386;BC052640;BM563199;CH471139;FB342993;FB711116;NM_205767 AAH09557;AAH42386;BAE80091;CAR81497;CAS91513;EAW69159;EAW69160;NP_991330;Q5XKP0 Hs.356626 5037552;5113791 D8S2279;RH79810 P117;QIL1 QIL1 protein;protein QIL1 protein-coding ENSG00000174917 33702 15198 VALIDATED 3380006 C19orf77 chromosome 19 open reading frame 77 19 19 19 p13.3 3411216 3417351 - 3425405 3431534 - 3474405 3480540 - 6480464 12477932;16341674;8889548 284422 K7EKM7;O75264 ABBA01002825;AC005551;AF161441;AMYH01009313;AX970540;BC146979;BC146984;BM769757;BU733823;CB178479;NM_001136503 AAF29001;AAI46980;AAI46985;CAF15648;NP_001129975;O75264 Hs.130714 1697344 RH102169 HSPC323 transmembrane protein C19orf77;transmembrane protein HSPC323 protein-coding ENSG00000095932 37244 VALIDATED 1607075 C1D C1D nuclear receptor corepressor The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Alternate splicing results in multiple transcript variants that encode the same protein. Multiple pseudogenes of this gene are found on chromosome 10.[provided by RefSeq, Jun 2010] 2 2 p13-p12 68122840 68143634 - 68269332 68290159 - 6480464 9469821;17599775;17412707;15146197;12477932;12379155;11801738;11311939;10362552;9852280;9679063;9405624;16344560;19423540;20406964;20438785;20211142;20530579;21832049;18029348;21906983 10438 J3KPZ4;Q13901 ABBA01075475;ABBA01075476;ABBA01075477;ABBA01075478;AC079112;AI004680;AJ297543;AK290451;AMYH01010412;BC005235;BC009584;BC009589;BC016284;BG505686;BM354091;CH471053;CN342947;DA900336;NM_001190263;NM_001190265;NM_006333;NM_173177;X95592 AAH05235;AAH09584;AAH09589;AAH16284;AAX88887;ABZ92396;BAF83140;CAA64845;EAW99884;EAW99885;EAW99886;NP_001177192;NP_001177194;NP_006324;NP_775269;Q13901 Hs.602900;Hs.697447 1647519;1679107;1680974;2186932 G23952;RH40315;RH69396;RH69539 LRP1;MGC12261;MGC14659;SUN-CoR;SUNCOR;hC1D C1D DNA-binding protein;C1D nuclear receptor co-repressor;OTTHUMP00000159964;OTTHUMP00000201764;OTTHUMP00000202687;OTTHUMP00000202688;nuclear DNA-binding protein;nuclear nucleic acid-binding protein C1D;small unique nuclear receptor co-repressor;small unique nuclear receptor corepressor APPROVED protein-coding 29911 07382 606997 REVIEWED 1344219 C1GALT1C1 C1GALT1-specific chaperone 1 This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009] X X q24 119643559 119647969 - 119759529 119764005 - 628501;1580863;6480464;6907045;7240710 12361956 18840896;18695044;18537974;18339842;18321367;18061573;17228361;16251947;12975309;12477932;12464682;11042152;22332537;22416136;19778426;19923218;20144270;8889548;21262965;21496458;21963094;23424651;21906983;23035125 29071 Q96EU7 AA578739;AB084170;ABBA01036052;AC011890;AF088029;AF161552;AF177284;AJ238398;AK290111;AMYH01022918;AY159319;AY358642;BC011930;BC012502;BC050441;BG779539;BM971206;CH471107;NG_016219;NM_001011551;NM_152692 AAF29039;AAH11930;AAH50441;AAN78129;AAQ13670;AAQ89005;ADZ16066;BAC41493;BAF82800;CAC80277;EAX11873;NP_001011551;NP_689905;Q96EU7 Hs.643920 2128483;2218740 C1GALT2__4480;G31528 C1GALT2;C1Gal-T2;C38H2-L1;COSMC;HSPC067;MGC19947;MST143;TNPS C1GALT1-specific chaperone 1;C1Gal-T2;C38H2-like protein 1;OTTHUMP00000023952;OTTHUMP00000023953;beta 1,3-galactosyltransferase 2;core 1 beta1,3-galactosyltransferase 2;core 1 beta3-Gal-T2;core 1 beta3-galactosyltransferase-specific molecular chaperone APPROVED protein-coding ENSG00000171155 24338 06462 300611;300622 REVIEWED 1603542 C1orf100 chromosome 1 open reading frame 100 1 1 1 q44 217805882 217842427 + 242582560 242619016 + 244515937 244552393 + 16710414;15489334;12477932;22832964;22560479 200159 Q5SVJ3 ABBA01047199;ABBA01047200;AL645465;AMYH01001895;BC054479;BX099227;CH471148;HY055397;NM_001012970;NM_001276348;NM_001276349 EAW77100;EAW77101;NP_001012988;NP_001263277;NP_001263278;Q5SVJ3 Hs.442703 1699752 RH103482 RP11-518L10.1 OTTHUMP00000037987;OTTHUMP00000037988;hypothetical protein LOC200159;uncharacterized protein C1orf100 protein-coding ENSG00000173728 30435 13168 VALIDATED 732029 C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010] 7 7 p21.3 7240414 7250506 + 7222246 7288251 + 632427;1580863;6480464;6907045 11677243 17228361;22988244;19357720;19229831;19073881;19010793;18985719;18840896;18061573;16344560;16251947;12690205;12477932;10580128;18695044;19524017;19556244;19923218;20379614;14702039;21496458;21906983;22416136;22589738;22574202;22131235;22534569;22544166;15146197 56913 C9JDX1;C9K0C8;Q9NS00 AA443459;AACC02000012;ABBA01056514;AC005532;AF155582;AI400132;AI471988;AJ132443;AJ243256;AJ278960;AK023557;AMYH01017056;BC003174;CB992707;CH236948;CH471073;CN360565;DA977378;DB106731;DB136152;JA738797;NG_027732;NM_020156 AAF81981;AAH03174;AAQ96887;CAC45046;CAC80435;CAC82373;CCF77051;EAL24308;EAW93588;EAW93589;EAW93590;NP_064541;Q9NS00 Hs.239666 1653802;1660449;1661354;1661726;1669729;1680042;1681708;1777878;2173703;2175312;7185116 D0S8242E;D7S1659;D7S537E;G09436;RH64979;RH78171;RH80632;SGC38000;SHGC-2627;WI-16903 C1GALT;T-synthase B3Gal-T8;OTTHUMP00000200760;beta 1,3-galactosyltransferase;beta-1,3-galactosyltransferase;core 1 O-glycan T-synthase;core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1;core 1 beta1,3-galactosyltransferase 1;core 1 beta3-Gal-T;core 1 beta3-Gal-T1;glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 APPROVED protein-coding ENSG00000106392 24337 16631 610555 REVIEWED 1603371 C1orf105 chromosome 1 open reading frame 105 1 1 1 q24.3 145499293 145547396 + 170656453 170704589 + 172389828 172437969 + 6480464 17081983;16710414;15489334;12477932;20379614;21832049 92346 E9PLC3;H0YCE4;O95561;Q5R3C7 ABBA01027919;AL035295;AMYH01001498;BC038410;CH471067;NM_139240;Z97195 AAH38410;CAA22895;EAW90924;NP_640333;O95561 Hs.517991 1655385;1692864;1692888;1693792;1774597;1854382;2108367;2123948;2168620 D1S1860E;G42299;G42311;PIGC_8542;RH12889;SHGC-33416;SHGC-57331;SHGC-58192;SHGC-58931 RP1-106H8.1 OTTHUMP00000032649;OTTHUMP00000230863;hypothetical protein LOC92346;uncharacterized protein C1orf105 protein-coding ENSG00000180999 29591 14291 VALIDATED 1604494 C1orf101 chromosome 1 open reading frame 101 1 1 1 q44 217914699 218093560 + 242691313 242870285 + 244624673 244803662 + 16710414;15489334;12477932;20379614 257044 B1AQM6;Q5SY80 ABBA01047195;ABBA01047196;ABBA01047197;ABBA01047198;AC099757;AK027205;AK302609;AK303059;AL591594;AMYH01001895;AMYH01001896;AMYH01001897;BC028392;BC032859;BX648685;CH471148;DB462258;NG_029082;NM_001130957;NM_001242340;NM_173807 AAH32859;ABM81932;ABW03376;BAG64176;BAH13761;EAW77109;NP_001124429;NP_001229269;NP_776168;Q5SY80 Hs.459534 1693112;1724385;1776718 AL010011;AL034284;RH122716 MGC33370;RP11-523K4.1 OTTHUMP00000037984;OTTHUMP00000037985;OTTHUMP00000037986;hypothetical protein LOC257044;uncharacterized protein C1orf101 protein-coding ENSG00000179397 28491 14561 VALIDATED 1601862 C1orf106 chromosome 1 open reading frame 106 1 1 1 q32.1 173984710 174008910 + 199127292 199151486 + 200860627 200884864 + 6480464 21102463;21833088;16344560;15489334;14702039;12477932;21297633;19915572;15342556;23128233 55765 C9JAT8;E9PK29;Q3KP66 ABBA01027539;ABBA01027540;ABBA01027541;AC099756;AK001583;AK001763;AK025066;AK303885;AK316510;AMYH01001638;AW467005;BC106877;BP357953;CH471067;DA721467;DC346620;NM_001142569;NM_018265 AAI06878;BAA91771;BAA91892;BAG64821;BAH14881;EAW91323;NP_001136041;NP_060735;Q3KP66 Hs.518997 1676686;1764635 RH65506;SHGC-148222 FLJ10901;MGC125608 OTTHUMP00000033937;OTTHUMP00000033938;hypothetical protein LOC55765;uncharacterized protein C1orf106 protein-coding ENSG00000163362 25599 07712 VALIDATED 1603514 C1orf111 chromosome 1 open reading frame 111 1 1 1 q23.3 135446582 135449710 - 160610431 160613275 - 162343515 162346644 - 6480464 16189514;12477932;17207965;21832049 284680 Q5T0L3 ABBA01047307;AL512785;AMYH01001463;AY248900;BC032957;CH471067;NM_182581 AAH32957;AAP20051;ADQ32851;EAW90701;NP_872387;Q5T0L3 Hs.97784 HSD20;RP11-565P22.3 OTTHUMP00000029530;hypothetical protein LOC284680;uncharacterized protein C1orf111 protein-coding ENSG00000171722 27648 14154 VALIDATED 1606402 C1orf110 chromosome 1 open reading frame 110 1 1 1 q23.3 135928424 135942942 - 161090711 161105229 - 162824087 162838605 - 16710414;15489334;14702039;12477932;20664687;19536175;21832049;23266556 339512 E9PMF4;Q5JSG0;Q86UF4 ABBA01047302;AK123573;AL392003;AMYH01001465;BC040018;CH471067;NM_178550 BAC85648;EAW90726;NP_848645;Q86UF4 Hs.407631 FLJ41579;MGC48998;RP11-331H2.2 OTTHUMP00000032331;coiled-coil domain-containing protein C1orf110;hypothetical protein LOC339512 protein-coding ENSG00000185860 28736 14661 VALIDATED 1603990 C1orf112 chromosome 1 open reading frame 112 1 1 1 q24.2 142874342 142932011 + 168031174 168088853 + 169764550 169822229 + 6480464 19064610;14702039;12477932;19536175;20379614;21832049;23039964;21139048;21890473 55732 B4E0A9;E7ETI8;Q9NSG2 ABBA01027945;ABBA01027946;AK001568;AK023532;AK096493;AK127098;AK294569;AK299369;AK303296;AK310638;AL021940;AL031297;AL354614;AMYH01001490;BC011012;BC011445;BC062689;BC091516;BC107168;BC107169;CH471067;NM_018186 AAH91516;AAI07169;AAI07170;ACE86830;ACE87516;BAA91761;BAB14600;BAG53304;BAG54436;BAG57763;BAG61359;BAG64371;CAB89727;EAW90863;EAW90864;EAW90865;EAW90866;NP_060656;Q9NSG2 Hs.443551 1699940;1847091 RH103578;SHGC-75871 FLJ10706;FLJ13470;MGC130018;MGC130019;RP1-97P20.1 OTTHUMP00000033966;OTTHUMP00000034000;hypothetical protein LOC55732;uncharacterized protein C1orf112 protein-coding 25565 07694 PREDICTED 1606277 C1orf109 chromosome 1 open reading frame 109 1 1 1 p34.3 36425252 36434231 - 37919829 37928779 - 38147242 38156192 - 6480464 15489334;14702039;12477932;17207965;21890473;21906983;22548824 54955 Q9NX04 ABBA01023270;ABBA01023271;ABBA01023272;AC104336;AK000515;AK092319;AK299377;AK316093;AMYH01000502;BC018109;BC063843;CH471059;NM_017850 AAH18109;AAH63843;ADQ31991;BAA91221;BAG61367;BAH14464;EAX07326;EAX07327;EAX07328;EAX07329;EAX07330;NP_060320;Q9NX04 Hs.272673 FLJ20508 OTTHUMP00000004518;hypothetical protein LOC54955;uncharacterized protein C1orf109 protein-coding ENSG00000116922 26039 07918 614799 PROVISIONAL 1604289 C1orf116 chromosome 1 open reading frame 116 1 1 1 q32.1 180443370 180457605 - 205258489 205272724 - 207191866 207206101 - 6480464 16344560;16189514;15525603;14702039;12477932;9389513;18029348;18729074 79098 Q9BPY1;Q9BW04 ABBA01048247;AC098935;AK093826;AK096741;AL832940;AMYH01001680;AY352640;BC000765;BC001943;BC002325;BC018959;BG150416;CH471100;DA859157;NM_001083924;NM_023938 AAH00765;AAH01943;AAR11484;BAC04233;CAH56284;EAW93511;NP_001077393;NP_076427;Q9BW04 Hs.32417 1665715;2117375;2176540 A007I27;RH16330;SHGC-34392 DKFZp666H2010;FLJ36507;MGC2742;MGC4309;SARG OTTHUMP00000034747;OTTHUMP00000228548;specifically androgen-regulated gene protein;specifically androgen-regulated protein protein-coding ENSG00000182795 28667 15294 611680 VALIDATED 5130803 C1orf134 chromosome 1 open reading frame 134 p36.13 6480464 574037 Q5TEV5 AL109627 CAI22564;Q5TEV5 chromosome 1 open reading frame 134 protein-coding 32021 7246865 C1orf137 chromosome 1 open reading frame 137 388667 Q5JT78 AA922397;AL356748;CH471122;NM_001013643;XR_039900 EAW56660;NP_001013665;Q5JT78 Hs.127851 putative uncharacterized protein C1orf137 protein-coding 32040 18385 VALIDATED 1606866 C1orf132 chromosome 1 open reading frame 132 1 q32.2 206057213 206109112 - 14702039 388732 H0Y479 AK123177;AL356275;XR_000522;XR_000619 CAI40193;Q5TGB9 Hs.671099 1338984;1722593;1759545;1791440;1791730;1795514;2118948;2118950;2128275;2178351;2178467 CD34_304;D1S2692;D1S3317;G60378;PMC110554P1;PMC122934P1;RH35959;RH69685;RH70214;SHGC-151219;SHGC-33582 FLJ35650;MCP protein-coding 32018 1605938 C1orf115 chromosome 1 open reading frame 115 1 1 1 q41 194082992 194091863 + 218930251 218939122 + 220863628 220872499 + 6480464 16710414;16344560;15489334;14702039;12477932;8889548;21832049 79762 Q9H7X2 ABBA01048073;AI188887;AK024208;AK056749;AK091937;AK125403;AL592406;AMYH01001743;BC036067;BU728891;CH471100;DA175175;NM_024709 AAH36067;BAB14851;BAG52445;EAW93296;EAW93297;NP_078985;Q9H7X2 Hs.519839 1847425;2147032;2181541 A004A32;HSC21A072;SHGC-17189 FLJ14146;RP11-322F10.4 OTTHUMP00000035468;hypothetical protein LOC79762;uncharacterized protein C1orf115 protein-coding ENSG00000162817 25873 08596 VALIDATED 1625840 C1orf143 chromosome 1 open reading frame 143 q41 11181995 440714 H7C473 CH471100 EAW93325 5022578 D1S1423 protein-coding 32045 1606463 C1orf122 chromosome 1 open reading frame 122 1 1 1 p34.3 36551297 36552950 + 38046556 38047713 + 38273473 38275126 + 6480464 16710414;15489334;14702039;12477932;19578796 127687 Q5VSH5;Q6ZSJ8 ABBA01023263;AK127381;AL929472;AMYH01000505;AY517499;BC016402;BC057819;BC102041;BC107856;BC127187;BC127188;CH471059;CV575592;CX788342;NM_001142726;NM_198446 AAH57819;AAI02042;AAI27188;AAI27189;AAS76640;BAC86950;EAX07315;NP_001136198;NP_940848;Q6ZSJ8 Hs.532749 5493453 UniSTS:486466 ALAESM;FLJ23476;FLJ45459 OTTHUMP00000004512;OTTHUMP00000232301;hypothetical protein LOC127687;uncharacterized protein C1orf122;uncharacterized protein LOC127687 protein-coding ENSG00000197982 24789 13508 VALIDATED 1606706 C1orf127 chromosome 1 open reading frame 127 1 1 1 p36.22 10117782 10154399 - 10929120 10946845 - 11006530 11042094 - 14702039;12477932;16344560;22693459 148345 B7ZLG7;G8JLG8;H0YBK5;H3BM07;K7EPZ7;Q8N9H9 ABBA01035619;AK094437;AK095152;AL358492;AMYH01000251;BC126349;BC143794;BC143795;BC143797;CA438298;CH471130;DA093849;DW009828;NM_001170754 AAI26350;AAI43795;AAI43796;AAI43798;BAC04355;EAW71666;EAW71667;NP_001164225;Q8N9H9 Hs.127026 1732820;5024543 D1S1267;D1S3690 FLJ37118;FLJ37833 OTTHUMP00000196215;hypothetical protein LOC148345;uncharacterized protein C1orf127 protein-coding ENSG00000175262 26730 08780 VALIDATED 1605786 C1orf140 uncharacterized LOC400804 1 1 1 q41 194722654 194729022 - 219569893 219576261 - 221503270 221509638 - 12477932 400804 Q5VVS0 ABBA01048067;AK128488;AL445470;AMYH01001744;BC140931;NR_024236 BAC87460;Q5VVS0 Hs.722626 2152528;5014055;5015961;5020948 AL009518;D15S1477;D1S3697;G35510 FLJ46636;MGC176608 APPROVED miscrna ENSG00000234754 17386 PREDICTED 1606070 C1orf141 chromosome 1 open reading frame 141 1 1 1 p31.3 65847829 65884157 - 67330447 67366808 - 67557859 67594220 - 12477932;22412388 400757 F2Z2X7;Q5JVX6;Q5JVX7 ABBA01074523;AL133320;AMYH01000690;BC047053;BC062728;BC090886;BG772061;CH471059;HC006824;NM_001013674;NM_001276351;NM_001276352;NR_075077 AAH47053;AAH90886;CBH19218;EAX06503;NP_001013696;NP_001263280;NP_001263281;Q5JVX7 Hs.666621 1644018;1673658 AL009579;AL009632 MGC48454 OTTHUMP00000011044;OTTHUMP00000011045;hypothetical protein LOC400757;uncharacterized protein C1orf141 protein-coding ENSG00000203963 32044 18418 VALIDATED 1605298 C1orf131 chromosome 1 open reading frame 131 1 1 1 q42.2 204624375 204641792 - 229426132 229443547 - 231359509 231376924 - 6480464 14702039;12975309;12477932;21832049 128061 Q5TBH9;Q5TBI2;Q8NDD1 ABBA01033034;AK055124;AK303359;AL137801;AL834274;AMYH01001819;AY358235;BC036800;BC053609;BC062353;CH471098;CX783674;NM_152379 AAH36800;AAH53609;AAH62353;AAQ88602;BAB70857;BAG64419;CAD38949;EAW69948;EAW69949;EAW69950;EAW69951;EAW69952;NP_689592;Q8NDD1 Hs.743464 1692092;1692996;1698802 AL033686;AL034224;RH102964 DKFZp547B1713 OTTHUMP00000036143;OTTHUMP00000036144;OTTHUMP00000036145;OTTHUMP00000036146;hypothetical protein LOC128061;uncharacterized protein C1orf131 protein-coding ENSG00000143633 25332 13204 VALIDATED 1601780 C1orf148 chromosome 1 open reading frame 148 1 q42.13 228351787 228353213 - 14702039 574432 B1ANH7 ABBA01005832;AI989571;AL359510;AMYH01001792;BX114038;CH471098;NR_103539;NR_103540;XR_159118;XR_159330;XR_171255 B1ANH7;EAW69861 Hs.568467 FLJ32878 miscrna ENSG00000203684 32062 VALIDATED 1603028 C1orf123 chromosome 1 open reading frame 123 1 1 1 p32.3 51967614 51974132 - 53452359 53458877 - 53679771 53686289 - 16710414;15489334;14702039;12477932;17207965;16169070;21900206;21139048;21890473;21906983;22505724 54987 B1ARP7;Q9NWV4 ABBA01074743;AK000587;AK092734;AK094371;AL606760;AMYH01000626;BC010908;CH471059;CR457246;NM_017887 AAH10908;ADQ33192;BAA91272;CAG33527;EAX06749;EAX06750;EAX06751;EAX06752;NP_060357;Q9NWV4 Hs.525391 2120086;2143308;2164721 D1S1890E;RH64517;SHGC-17418 FLJ20580;RP5-1024G6.3 OTTHUMP00000010492;OTTHUMP00000035907;UPF0587 protein C1orf123;hypothetical protein LOC54987 protein-coding ENSG00000162384 26059 07929 PREDICTED 1603476 C1orf146 chromosome 1 open reading frame 146 1 1 1 p22.1 90929995 90957788 + 92456161 92483955 + 92683573 92711367 + 15496913;12477932 388649 Q5VVC0 AA861282;ABBA01045550;AL451010;AMYH01000796;BC130499;BC171742;BQ435566;BQ435801;BU567193;BU852979;CH471097;NM_001012425 AAI30500;ADR82861;EAW73099;NP_001012425;Q5VVC0 Hs.558823 1663535 AL009497 RP11-163M2.4 OTTHUMP00000011941;OTTHUMP00000011942;hypothetical protein LOC388649;uncharacterized protein C1orf146 protein-coding ENSG00000203910 24032 17988 VALIDATED 1604211 C1orf168 chromosome 1 open reading frame 168 1 1 1 p32.2 55469351 55569881 - 56957066 57057632 - 57184477 57285369 - 6480464 16344560;14702039;8889548;22843503;23251661 199920 Q5VWT5 ABBA01074677;ABBA01074678;AK093468;AK125198;AK310842;AL035705;AL360295;AMYH01000645;BU686304;BX648439;DA523424;DB193989;NM_001004303 ACE86516;ACE87195;BAC86080;CAH56148;NP_001004303;Q5VWT5 Hs.437655 1708410;1712030;2147251;2161685 AL009563;RH118712;SHGC-58246;SHGC-83491 FLJ43208;RP4-758N20.2 OTTHUMP00000009991;hypothetical protein LOC199920;uncharacterized protein C1orf168 protein-coding ENSG00000187889 27295 14120 VALIDATED 6899621 C1orf145 chromosome 1 open reading frame 145 1 q42.13 228391207 228401365 - 10737800;12477932;14702039;15489334;16710414 574407 H0YE71;Q96MR7 ABBA01005833;AK056556;AL359510;AMYH01001792;AMYH01001793;BC027909;CH471098;NR_073154;NR_073155 BAB71215;EAW69864;EAW69865;Q96MR7 Hs.650039 miscrna ENSG00000162913 32047 VALIDATED 1604535 C1orf162 chromosome 1 open reading frame 162 1 1 1 p13.2 110263526 110268056 + 111818127 111822657 + 112016604 112021134 + 6480464 14702039;12477932 128346 Q8NEQ5 ABBA01068397;AK123160;AL390195;AMYH01000946;BC017973;CH471122;NM_174896 AAH17973;ABM82902;ABM86093;EAW56497;EAW56498;NP_777556;Q8NEQ5 Hs.288010 1682387 RH93699 MGC24133 OTTHUMP00000013474;OTTHUMP00000013475;transmembrane protein C1orf162 protein-coding ENSG00000143110 28344 14495 PROVISIONAL 1604177 C1orf167 chromosome 1 open reading frame 167 1 1 1 p36.22 10940298 10952024 + 11754772 11773198 + 11822284 11835554 + 12477932;12370778;19913121;20628086;19729601;20416077 284498 H0Y401;H0Y5F2;H0Y5L4;H7BXQ2;Q5SNV9 ABBA01003059;AF398935;AL833920;AL833926;AL834308;AL953897;AMYH01000258;BC031692;BC128091;BC128092;XM_003118845;XM_003119773;XM_003960099 AAH31692;AAI28092;AAI28093;CAD38776;CAD38782;CAD38978;Q5SNV9;XP_003118893;XP_003119821;XP_003960148 Hs.585415;Hs.730573 5022200 L18426 DKFZp434E1410;DKFZp434F1313;RP11-56N19.2 OTTHUMP00000002264;OTTHUMP00000002265;OTTHUMP00000002266;hypothetical protein LOC284498;uncharacterized protein C1orf167 protein-coding 25262 MODEL 1606208 C1orf170 chromosome 1 open reading frame 170 1 1 1 p36.33 1672416 1681155 + 900442 907330 - 910579 917473 - 6480464 12477932;8681137 84808 Q5SV97 ABBA01016005;ABBA01016006;AK123855;AK312221;AL645608;AMYH01000104;BC006300;F22110;NR_027693 AAH06300;BAC85711;BAG35154;Q5SV97 Hs.271462 FLJ92510;MGC13275;RP11-54O7.8 miscrna ENSG00000187642 28208 VALIDATED 1602191 C1orf158 chromosome 1 open reading frame 158 1 1 1 p36.21 11918687 11933640 + 12728750 12743689 + 12806163 12821102 + 16710414;15489334;12477932;17207965 93190 Q5VUY5;Q8N1D5 ABBA01003098;AK026705;AK298760;AL513016;AMYH01000261;BC029894;BX647383;CH471130;NM_152290 AAH29894;ADQ31595;BAG60902;EAW71746;NP_689503;Q8N1D5 Hs.98095 1684924;1692930;5015861;5022578;7185938 AL034179;D10S16;D1S1423;RH98526 DKFZp686C0236;MGC35194;RP11-474O21.4 OTTHUMP00000001870;OTTHUMP00000001871;hypothetical protein LOC93190;uncharacterized protein C1orf158 protein-coding 28567 14604 VALIDATED 1601806 C1orf185 chromosome 1 open reading frame 185 1 1 1 p32.3 49854427 49900283 + 51340494 51386342 + 51567906 51613754 + 16710414;14702039;21076409 284546 Q5T7R7;R4GMU4 ABBA01074813;ABBA01074814;AK130995;AL162430;AMYH01000610;NM_001136508 NP_001129980;Q5T7R7 Hs.176177 FLJ27485 OTTHUMP00000009757;hypothetical protein LOC284546;uncharacterized protein C1orf185 protein-coding ENSG00000204006 28096 PREDICTED 1606269 C1orf159 chromosome 1 open reading frame 159 1 1 1 p36.33 1559584 1569871 + 1007068 1041332 - 1017198 1051736 - 16710414;16344560;15489334;14702039;12975309;12477932;8889548 54991 B2REC4;B2REC5;J3KSJ6;J3KT48;J3QKM1;J3QRL0;J3QSF0;Q5T2W7;Q5T2W9;Q96HA4 ABBA01016014;ABBA01016015;ABBA01016016;ABBA01016017;AI270164;AK000591;AK024796;AK054793;AK057368;AK124054;AK128271;AK128434;AK301998;AL390719;AMYH01000111;AMYH01000112;AMYH01000113;AY358490;BC008788;BC028173;BE280321;BM974309;BU624412;BX394177;CH471183;DA066689;DB026989;NM_017891 AAH08788;AAQ88854;ADZ15797;BAA91276;BAC87438;BAG51908;BAG63402;EAW56288;EAW56289;EAW56290;EAW56291;NP_060361;Q96HA4 Hs.235095 5022651 D11S2921 FLJ20584;FLJ21143;FLJ36119;RP11-465B22.4 OTTHUMP00000000807;OTTHUMP00000000808;OTTHUMP00000000809;OTTHUMP00000000896;OTTHUMP00000000897;OTTHUMP00000205753;hypothetical protein LOC54991;uncharacterized protein C1orf159 protein-coding ENSG00000131591 26062 07930 VALIDATED 1602654 C1orf172 chromosome 1 open reading frame 172 1 1 1 p36.11 25673140 25683994 - 27148648 27159484 - 27276047 27286901 - 6480464 14702039;12477932;16344560 126695 Q68D65;Q8NAX2 ABBA01034938;ABBA01034939;ABBA01034940;AI216202;AK091952;AL356390;AMYH01000415;BC033143;CH471059;CR749558;DA041083;NM_152365 AAH33143;BAC03775;CAH18355;EAX07779;NP_689578;Q8NAX2 Hs.188881 1732920 D1S1326 FLJ34633;RP11-344H11.3 OTTHUMP00000004472;hypothetical protein LOC126695;uncharacterized protein C1orf172 protein-coding ENSG00000175707 26624 08754 VALIDATED 7246238 C1orf191 chromosome 1 open reading frame 191 6480464 16710414 619518 Q7Z2R9 ABBA01074726;AF176918;AL161644;AMYH01000632;NR_103541;XR_110512;XR_112074;XR_171167 AAQ13662;Q7Z2R9 Hs.591438 MST128;MSTP128 miscrna ENSG00000198711 32328 VALIDATED 1603912 C1orf173 chromosome 1 open reading frame 173 1 1 1 p31.1 73279099 73384675 - 74806383 74912010 - 75033795 75139422 - 12477932;20379614 127254 Q5RHP9;R4GMY5 ABBA01074425;AC096950;AI028350;AK127470;AL833250;AL834414;AMYH01000712;BC035114;BC044605;BC073916;BI832067;BX470253;CH471059;CR749349;NM_001002912;R61866 AAH73916;BAC86994;CAD39076;CAH18202;EAX06413;EAX06414;NP_001002912;Q5RHP9 Hs.531182 1336702;1677768;1693078;1722981;1727011;1756759;1781816;2151863 AL009754;AL034267;D1S2761;G60590;G62903;RH92319;SHGC-143889;SHGC-156141 DKFZp547I048;DKFZp761G1720;DKFZp781L0319;MGC90412;RP11-653A5.1 OTTHUMP00000011196;hypothetical protein LOC127254;uncharacterized protein C1orf173 protein-coding ENSG00000178965 25346 16816 VALIDATED 1626188 C1orf193 chromosome 1 open reading frame 193 100101443 AL513523;NM_001099689 CAH71419;NP_001093159 FLJ21919 protein-coding 32329 1603553 C1orf177 chromosome 1 open reading frame 177 1 1 1 p32.3 53559332 53595605 + 55044324 55080513 + 55271736 55307937 + 6480464 14702039;12477932;20379614 163747 Q3ZCV2 ABBA01074707;AC096536;AK097520;AMYH01000640;AMYH01000641;BC039109;BC064142;BU633253;CH471059;NM_001110533;NM_152607 AAH39109;AAH64142;BAC05087;EAX06665;EAX06666;NP_001104003;NP_689820;Q3ZCV2 Hs.376018 1781832 SHGC-172962 FLJ40201 OTTHUMP00000011682;OTTHUMP00000011683;hypothetical protein LOC163747;uncharacterized protein C1orf177 protein-coding ENSG00000162398 26854 08807 VALIDATED 1603248 C1orf174 chromosome 1 open reading frame 174 1 1 1 p36.32 3059840 3070495 - 3795557 3806709 - 3805697 3816857 - 6480464 18029348;16169070;14702039;12477932;21832049;19322201;21044950 339448 Q8IYL3 ABBA01073650;AK125092;AK289493;AL691523;AMYH01000192;BC035643;BC047611;BC067302;BX005110;CH471130;NM_207356 AAH35643;AAH67302;BAF82182;EAW71492;EAW71493;NP_997239;Q8IYL3 Hs.103939 1688468;1766319;2187333;5015861;5022322;7185938 D10S16;D11S2560;RH93299;SHGC-149666;SHGC-30623 RP13-531C17.2 OTTHUMP00000003854;UPF0688 protein C1orf174;hypothetical protein LOC339448 protein-coding ENSG00000198912 27915 17353 VALIDATED 1604188 C1orf192 chromosome 1 open reading frame 192 1 1 1 q23.3 134401651 134404794 - 159601145 159604288 - 161334521 161337664 - 6480464 17213182;8889548;22275255 257177 Q5VTH2 ABBA01016590;AL592295;AMYH01001457;BU688150;CH471121;DT215043;NM_001013625 EAW52596;NP_001013647;Q5VTH2 Hs.534593 1701676;2160051;2181924;5093192 A009J11;G32575;RH104510;RH68877 OTTHUMP00000032373;UPF0740 protein C1orf192;hypothetical protein LOC257177 protein-coding ENSG00000188931 32325 13257 VALIDATED 1604852 C1orf196 chromosome 1 open reading frame 196 p36.21 780789 B1AJZ1 AL031273;Z99291 B1AJZ1;CAI20112;CAI22533 chromosome 1 open reading frame 196 protein-coding 32336 1604859 C1orf197 chromosome 1 open reading frame 197 1 q42.12 223667869 223668585 + 653311 AC092811;XM_928433 XP_933526 FLJ43126;PRO0650 protein-coding 32338 1348164 C1orf20 chromosome 1 open reading frame 20 q25 11318611 116492 AF288396 Hs.693174 protein-coding 16786 1606860 C1orf186 chromosome 1 open reading frame 186 1 1 1 q32.1 179204080 179208813 + 204405495 204455270 - 206238872 206288647 - 6480464 16710414;15489334;14702039;12477932 440712 Q6ZWK4 ABBA01001845;ABBA01001846;AC244035;AK122631;AMYH01001676;AX118901;BC071785;BX104285;BX571818;CH471067;NM_001007544 AAH71785;BAC85497;CAC38524;EAW91594;NP_001007545;Q6ZWK4 Hs.662248 1691196 RH91969 FLJ16052 OTTHUMP00000034347;hypothetical protein LOC440712;uncharacterized protein C1orf186 protein-coding ENSG00000196533 25341 17400 VALIDATED 7246539 C1orf195 chromosome 1 open reading frame 195 15489334;16710414 727684 Q5TG92 AL035405;AW269992;BX095243;NM_001278501;NM_001278502 NP_001265430;NP_001265431;Q5TG92 Hs.735267 putative uncharacterized protein C1orf195 protein-coding 32332 VALIDATED 1641969 C1orf180 chromosome 1 open reading frame 180 1 1 1 p22.3 83337809 83344598 - 84866501 84873291 - 85093913 85100703 - 6480464 14702039;12477932 439927 Q8NAE3 ABBA01045652;AC114482;AK092806;AMYH01000752;BC137361;BC137362;BC144607;BC171792;CH471097;NR_027379 BAC03979;EAW73229;Q8NAE3 Hs.407054 FLJ35487;MGC168982;MGC168983 miscrna ENSG00000180869 26647 08182 VALIDATED 1604538 C1orf194 chromosome 1 open reading frame 194 1 1 1 p13.3 107917953 107925883 - 109450096 109458002 - 109648573 109656479 - 12477932;11329013 127003 B1ALJ5;E9PLX1;E9PRR4;Q5T5A4 ABBA01068371;ABBA01068372;AL138933;AL356488;AMYH01000929;BC127905;BG196327;BG772797;NM_001122961 NP_001116433;Q5T5A4 Hs.446962 OTTHUMP00000013446;OTTHUMP00000013448;hypothetical protein LOC127003;uncharacterized protein C1orf194 protein-coding ENSG00000179902 32331 VALIDATED 1606869 C1orf189 chromosome 1 open reading frame 189 1 1 1 q21.3 127243566 127250527 - 152438472 152445433 - 154171848 154178809 - 12477932;16710414;15489334 388701 Q5VU69 ABBA01049475;AI052706;AL590431;AMYH01001413;AMYH01001414;BC127710;BC130509;CH471121;HY025946;NM_001010979 AAI27711;AAI30510;ADR83452;EAW53228;NP_001010979;Q5VU69 Hs.104967 1735654;1848456;1850070;2138400;2147428;2171874 A002G29;D1S1842E;D1S1900E;D9S2048;RH11751;RH12547 OTTHUMP00000034203;hypothetical protein LOC388701;uncharacterized protein C1orf189 protein-coding ENSG00000163263 32305 17373 VALIDATED 1601704 C1orf204 chromosome 1 open reading frame 204 1 1 q23.2 132872691 132893564 - 159804264 159825137 - 6480464 14702039;15489334;15815621;23472185 284677 Q5VU13 ABBA01016617;ABBA01016618;AK096506;AL080176;AL590560;AMYH01001448;NM_001134233 CAH71105;NP_001127705 Hs.647718 1798158;2178946 SLAMF8_2285;WI-11725 FLJ20442;FLJ39187 OTTHUMP00000033459;hypothetical protein LOC284677;uncharacterized protein LOC284677 protein-coding ENSG00000188004 27647 PREDICTED 1626542 C1orf200 chromosome 1 open reading frame 200 1 1 1 p36.22 8823694 8825670 - 9635255 9637231 - 9712668 9714644 - 14702039;12477932 644997 Q5SR53 ABBA01035565;AK097325;AL691449;AMYH01000241;BC016063;BC144613;CH471130;NG_023434;NR_027045 BAC04998;EAW71628;Q5SR53 Hs.568595 5016851 RH80031 miscrna ENSG00000179840 32346 VALIDATED 1605280 C1orf213 chromosome 1 open reading frame 213 1 1 1 p36.12 22025118 22027986 + 23568051 23570866 + 23695464 23698332 + 12477932 148898 E5RFN3;E5RHY3;F2Z2N4;H0YBW9;Q8NC38 ABBA01059870;AK074989;AL109936;AMYH01000359;BC007899;BC028411;BC054115;BC068594;BQ072309;BX098506;CH471134;CQ782969;NR_033690;NR_033691 AAH28411;AAH54115;AAH68594;BAC11338;CAF86197;EAW95046;Q8NC38 Hs.61884 1680607;5016741 RH76104;RH80588 FLJ90508 miscrna ENSG00000249087 25122 14083 VALIDATED 1603568 C1orf210 chromosome 1 open reading frame 210 1 1 1 p34.2 42029660 42033395 - 43520141 43523837 - 43747554 43751288 - 6480464 16341674;15489334;12477932;17207965 149466 Q8IVY1 ABBA01050960;AC093420;AL696898;AMYH01000557;BC041633;BM273035;BM784450;CH471059;NM_001164829;NM_182517 AAH41633;ADQ32137;EAX07108;EAX07109;NP_001158301;NP_872323;Q8IVY1 Hs.158963 MGC52423 OTTHUMP00000224940;OTTHUMP00000224941;putative uncharacterized protein C1orf210 protein-coding ENSG00000253313 28755 14677 VALIDATED 1602995 C1orf198 chromosome 1 open reading frame 198 1 1 1 q42.2 204238818 204271280 - 229039489 229070900 - 230972865 231005335 - 6480464 16710414;15489334;14702039;12665801;12477932;16344560;19322201;21139048;21906983 84886 E5RFY9;E5RI90;Q9H425 ABBA01033029;ABBA01033030;ABBA01033031;AK027431;AK096166;AK131306;AK292433;AL118511;AL713769;AL833809;AMYH01001814;AMYH01001815;BC004870;BC066649;CH471098;DA333501;DA754292;NM_001136494;NM_001136495;NM_032800 AAH66649;BAB55105;BAD18472;BAF85122;BAG53223;EAW69923;EAW69924;EAW69925;EAW69926;EAW69927;NP_001129966;NP_001129967;NP_116189;Q9H425 Hs.520494 2149791;2162327;5110525 A006T20;RH45528;SHGC-76517 DKFZp667D152;FLJ14525;FLJ16283;FLJ38847;MGC10710 OTTHUMP00000035916;OTTHUMP00000228226;OTTHUMP00000228228;hypothetical protein LOC84886;uncharacterized protein C1orf198 protein-coding ENSG00000119280 25900 13359 VALIDATED 1601758 C1orf218 chromosome 1 open reading frame 218 1 q31.3 195745380 195788865 - 14702039;12477932 54530 AK000061;AK024832;AK091207;AL139136;AL831839;BC074735;NM_019049 AAH74735;BAA90918;BAB15024;CAD38548;CAI15312;NP_061922;Q5TAI8;Q6B0I8;Q9H774;Q9NXU2 Hs.657779 DKFZp547O0715;FLJ20054 protein-coding 25946 08611 1602948 C1orf220 chromosome 1 open reading frame 220 1 1 1 q25.2 151621094 151627187 + 176778554 176784647 + 178511931 178518024 + 14702039;12477932 400798 Q5T0J3;Q5T0J4 ABBA01027834;ABBA01027835;AK092849;AL513013;AMYH01001524;BC136727;CH471067;NR_033186 AAI36728;BAC03990;EAW91026;Q5T0J3 Hs.668085 DKFZp564J047;FLJ35530;FLJ40199 miscrna ENSG00000184909;ENSG00000213057 33805 13417 VALIDATED 1602984 C1orf216 chromosome 1 open reading frame 216 1 1 1 p34.3 34453940 34459253 - 35952064 35957377 - 36179477 36184790 - 6480464 16189514;14702039;12477932 127703 B4DG08;Q8TAB5 ABBA01023335;AK096303;AK096466;AK294352;AL354864;AMYH01000491;BC026909;CH471059;NM_152374 AAH26909;BAC04755;BAC04799;BAG57619;EAX07403;EAX07404;NP_689587;Q8TAB5 Hs.112023 1703180;2124526;2169455;2169457 A002D03;G19944;SGC31887;WI-19902 FLJ38984 OTTHUMP00000221719;UPF0500 protein C1orf216;hypothetical protein LOC127703 protein-coding ENSG00000142686 26800 08798 PROVISIONAL 1319257 C1orf21 chromosome 1 open reading frame 21 1 1 1 q25 157467104 157709101 + 182622773 182864778 + 184356150 184598155 + 6480464 16710414;16341674;15489334;14702039;12477932;11318611;9110174;8619474;17207965 81563 B1AKK6;Q9H246 ABBA01027734;ABBA01027735;ABBA01027736;AF035282;AF312864;AK056487;AK312062;AL078645;AL358152;AL445228;AL699720;AMYH01001556;AMYH01001557;AY258286;BC028567;BF575955;BG823539;BM793961;BQ431539;BX648959;CD000222;CH471067;CR627007;NM_030806 AAG45338;AAH28567;AAP82231;ADQ32265;BAB71196;BAG34998;EAW91176;EAW91177;NP_110433;Q9H246 Hs.497159;Hs.743658 1644081;1647344;1650184;1659216;1667561;1671001;1684110;1692398;1692446;1693008;1706418;2160755;2184399;5092904;5093546 A009C04;A009Q28;AL009811;AL033847;AL033873;AL034231;D1S1846E;D1S1866E;D1S2249;G32403;G32782;RH26692;RH77882;SHGC-76052;SHGC-80787 PIG13 OTTHUMP00000033397;cell proliferation-inducing gene 13 protein;chromosome 1 open reading frame 21;proliferation-inducing protein 13;uncharacterized protein C1orf21 protein-coding ENSG00000116667 15494 12721 VALIDATED 1603331 C1orf229 chromosome 1 open reading frame 229 1 1 1 q44 220569764 220572019 - 245340085 245342342 - 247273462 247275719 - 388759 Q6ZS94 ABBA01031779;ABBA01031780;AK127619;AL390728;AMYH01001909;NM_207401 AAI56416;AAI72473;BAC87060;NP_997284;Q6ZS94 Hs.456511 5014051;5022200;5037552 D8S2278;D8S2279;L18426 FLJ45717 OTTHUMP00000228876;putative uncharacterized protein C1orf229 protein-coding ENSG00000221953 33759 13511 PREDICTED 1342892 C1orf30 chromosome 1 open reading frame 30 140784 17977 1606656 C1orf222 chromosome 1 open reading frame 222 1 1 p36.33 1843256 1849228 - 1853390 1859368 - 12477932 339457 F8W7V6;H7C4E1;H7C4J0;H7C5P2;Q5T2D8;Q69YW0 ABBA01016077;ABBA01016078;AL109917;AL137547;AMYH01000160;AMYH01000161;BC114926;XM_003119800;XM_003403417;XM_003960095 AAI14927;CAH10703;Q69YW0;XP_003119848;XP_003403465;XP_003960144 Hs.259619 MGC133181 chromosome 1 open reading frame 222;hypothetical protein LOC339457;uncharacterized protein C1orf222 protein-coding 27917 14167 MODEL 1606701 C1orf227 chromosome 1 open reading frame 227 1 1 1 q32.3 186229475 186246986 - 211070106 211087614 - 213003483 213020991 - 12477932;20379614 149643 Q537H7 ABBA01048163;ABBA01048164;ABBA01048165;AC104333;AY640234;BC035742;CH471100;NM_001024601 AAH35742;AAU14247;EAW93375;NP_001019772;Q537H7 Hs.153274 OTTHUMP00000212308;UPF0732 protein C1orf227;hypothetical protein LOC149643 protein-coding ENSG00000185523 33709 18558 PREDICTED 1349502 C1orf5 chromosome 1 open reading frame 5 10759 1236 2301261 C1orf226 chromosome 1 open reading frame 226 1 1 1 q23.3 135451762 135459674 + 160618144 160623232 + 162348696 162356608 + 6480464 14702039;12477932;11181995 400793 A1L170;F8W6W0 ABBA01047306;ABBA01047307;AI480219;AK023199;AK125122;AK293907;AL512785;AMYH01001463;BC127743;BC127744;CH471067;NM_001085375;NM_001135240 A1L170;AAI27744;AAI27745;BAG57292;EAW90702;NP_001078844;NP_001128712 Hs.447011 1710146;1779680;1779684;2126471;2169349 RH78970;SHGC-153658;SHGC-153662;SHGC-37330;SHGC-81561 FLJ13137;FLJ43132;FLJ55152 OTTHUMP00000228958;OTTHUMP00000228959;hypothetical protein LOC400793;uncharacterized protein C1orf226 protein-coding ENSG00000239887 34351 VALIDATED 1606401 C1orf228 chromosome 1 open reading frame 228 1 1 1 p34.1 43423283 43474156 + 44913014 44964051 + 45140394 45191263 + 12477932 339541 C9J477;C9J579;C9JA22;C9JCY2;F8WDG2;H7C5J1;Q6PIY5 ABBA01050915;ABBA01050916;ABBA01050917;ABBA01050918;AL122004;AMYH01000567;AY254217;BC026115;BX112141;CH471059;NM_001145636 AAH26115;AAP80384;EAX07026;EAX07027;NP_001139108;Q6PIY5 Hs.173679 1676994;1692428;2183364 AL033863;RH98387;SHGC-74737 MGC33556;NCRNA00082;p40 OTTHUMP00000212437;hypothetical protein LOC339541;uncharacterized protein C1orf228 protein-coding ENSG00000198520 34345 17525 VALIDATED 6480141 C1orf233 chromosome 1 open reading frame 233 1 p36.33 1533388 1535476 - 12477932;8889548 643988 F2Z333 AB188495;ABBA01016056;ABBA01016057;ABBA01016058;ABBA01016059;ABBA01016060;ABBA01016061;ABBA01016062;AL691432;AMYH01000142;BC013276;BC070393;BU733865;NM_001242659 F2Z333;NP_001229588 Hs.528816 fibronectin type-III domain-containing transmembrane protein C1orf233;uncharacterized protein LOC643988 protein-coding ENSG00000228594 42951 VALIDATED 1346906 C1orf27 chromosome 1 open reading frame 27 1 1 1 q25 159455598 159501227 + 184611624 184657126 + 186344890 186390503 + 6480464 18187418;15718105;12868032;12477932;11318611;16344560;21139048;21706016 54953 Q5SWX8 ABBA01027704;AF214011;AK000171;AK000512;AK026086;AK298107;AL596220;AMYH01001562;AY854248;BC003397;CH471067;DB116803;DQ323046;DQ529299;NM_001164245;NM_001164246;NM_017847 AAH03397;AAL56643;AAW30011;ABC50092;ABF71985;BAA91218;BAB15356;BAG60392;EAW91207;EAW91208;EAW91209;NP_001157717;NP_001157718;NP_060317;Q5SWX8 Hs.371210 1337574;1768340;1772829;1848387;2126689;2130548;2150456;2187072;2219226;2220362 D1S2138;OCLM__6101;RH17859;RH46918;RH67877;SHGC-34113;SHGC-76036;UniSTS:480712;UniSTS:495134;WI-22547 FLJ20505;ODR4;TTG1;odr-4 LAG1-interacting protein;OTTHUMP00000033583;hODR-4;odorant response abnormal 4;protein odr-4 homolog;transactivated by recombinant transforming growth factor beta;transactivated by transforming growth factor beta protein 1 protein-coding ENSG00000157181 24299 12723 609335 VALIDATED 1347816 C1orf51 chromosome 1 open reading frame 51 1 1 1 q21.2 123370960 123375233 + 148521853 148526125 + 150255229 150259501 + 737633;6480464 12477932 16710414;15489334;14702039;17207965;21832049 148523 Q5TB12;Q5TB13;Q5TB14;Q8N365 ABBA01049331;AC242988;AK056960;AK098755;AK315397;AL138795;AMYH01001373;BC017397;BC027999;BC047238;CH471121;NM_144697 AAH17397;AAH27999;AAH47238;ACT64534;ACT64535;ADQ31740;BAB71326;BAC05404;BAG37790;CAI22816;CAI22817;CAI22818;CAI22819;EAW53560;EAW53561;EAW53562;EAW53563;EAW53564;NP_653298;Q8N365 Hs.54680 1687297;2186238;5022578;5037552 D1S1423;D8S2279;RH103224;SHGC-54240 FLJ25889 OTTHUMP00000014535;OTTHUMP00000014536;OTTHUMP00000014537;OTTHUMP00000014538;OTTHUMP00000014539;hypothetical protein LOC148523;uncharacterized protein C1orf51 protein-coding ENSG00000159208 25200 14081 PREDICTED 1350429 C1orf50 chromosome 1 open reading frame 50 1 1 1 p34.2 41514848 41523350 + 43005527 43013998 + 43232916 43241413 + 737633;6480464 12477932 16344560;15489334;15146197;8889548;21139048 79078 H0YFI9;H7C135;H7C461;Q9BV19;R4GMT4 AA741374;ABBA01050974;AC098484;AMYH01000554;BC001508;BC001711;BE464824;BM702424;CH471059;CN256666;DA684965;NM_024097;NR_040733 AAH01508;AAH01711;ADZ15681;EAX07138;EAX07139;EAX07140;EAX07141;NP_077002;Q9BV19 Hs.148845 1678937;1732888;1773511;2169331 D1S1307;RH92982;SHGC-2670;SHGC-74725 MGC955 OTTHUMP00000008833;hypothetical protein LOC79078;uncharacterized protein C1orf50 protein-coding ENSG00000164008 28795 14714 VALIDATED 1346419 C1orf52 chromosome 1 open reading frame 52 1 1 1 p22.3 83960049 83969784 - 85490244 85497913 - 85715636 85725355 - 737633;6480464 12477932 17081983;16710414;16344560;15592455;15489334;11891061;19773279;20360068;21139048;21890473 148423 Q8N6N3 ABBA01045640;AF387611;AF387612;AK126929;AL590113;AMYH01000754;AY486331;AY486332;BC029538;BX118798;CH471097;DA214065;NM_198077;NR_024113 AAH29538;AAL91352;AAL91353;AAS57906;AAS57907;BAG54401;EAW73209;NP_932343;Q8N6N3 Hs.26226 1648111 SHGC-75084 FLJ44982;RP11-234D19.1;gm117 BCL10-associated gene protein;OTTHUMP00000011650;UPF0690 protein C1orf52;hypothetical protein LOC148423 protein-coding 24871 16637 VALIDATED 1312112 C1orf35 chromosome 1 open reading frame 35 1 1 1 q42.13 201478660 201481254 - 226355051 226357645 - 228288428 228291022 - 6480464 21145461;16710414;16189514;15635413;15489334;14702039;12545221;12477932;21832049;16196087;21044950;21628590;21139048 79169 Q9BU76 ABBA01005830;AK123377;AK126087;AL136379;AMYH01001791;AY137773;BC002843;BC062585;CH471098;NM_024319 AAH02843;AAH62585;AAN15215;ACE87052;ACE87734;BAC85598;BAC86431;EAW69837;EAW69838;EAW69839;NP_077295;Q9BU76 Hs.743343 1644601;2186213 SHGC-76454;SHGC-76467 MGC4174;MMTAG2;hMMTAG2 OTTHUMP00000035918;multiple myeloma transforming 2;multiple myeloma tumor-associated protein 2 protein-coding ENSG00000143793 19032 08512;10090 PROVISIONAL 1603678 C1orf43 chromosome 1 open reading frame 43 1 1 1 q21.2 127250901 127264989 - 152445807 152459897 - 154179183 154193273 - 6480464 18029348;16710414;16094384;15489334;12477932;11230159;11042152;17207965;21906983;21963094;23167344;22505724 25912 Q09GN0;Q9UFU2 ABBA01049475;ABBA01049476;AF077036;AF109185;AF529365;AJ243663;AJ243664;AJ243665;AK290583;AL117463;AL590431;AMYH01001414;AMYH01001415;BC000152;BC001377;BC006514;BC008306;BC014391;BC088353;BU072807;CH471121;CR457131;DB457727;DQ908899;DR007097;NM_001098616;NM_015449;NM_138740 AAD27769;AAH00152;AAH01377;AAH06514;AAH08306;AAH14391;AAH88353;AAQ09599;AAQ13494;ABI60896;ADQ31620;BAF83272;CAB55939;CAB65094;CAB65095;CAB65096;CAG33412;EAW53221;EAW53222;EAW53223;EAW53224;EAW53225;EAW53226;EAW53227;NP_001092086;NP_056264;NP_620077;Q9BWL3 Hs.287471 1735654;1739155;1848456;1850070;2138400;2147428;2171874;5016478;5037552 A002G29;D1S1842E;D1S1900E;D1S2274;D8S2279;D9S2048;GDB:434012;RH11751;RH12547 DKFZp586G1722;HSPC012;MGC111001;NICE-3;NS5ATP4;S863-3 HCV NS5A-transactivated protein 4;OTTHUMP00000034197;OTTHUMP00000034198;OTTHUMP00000034199;OTTHUMP00000034200;OTTHUMP00000034201;OTTHUMP00000034202;hepatitis C virus NS5A-transactivated protein 4;hypothetical protein LOC25912;protein NICE-3;uncharacterized protein C1orf43 protein-coding ENSG00000143612 29876 16636 VALIDATED 1606868 C1orf53 chromosome 1 open reading frame 53 1 1 1 q31.3 170994586 170999402 + 196138400 196143120 + 197871682 197876497 + 6480464 16710414;15897902;15489334;12477932;23128233 388722 H7C0U6;Q5VUE5 ABBA01027585;AL590115;AMYH01001625;BC038214;BC130608;BC130634;CH471067;NM_001024594 AAI30609;AAI30635;ADR82820;EAW91286;NP_001019765;Q5VUE5 Hs.61329 OTTHUMP00000033684;OTTHUMP00000033685;hypothetical protein LOC388722;uncharacterized protein C1orf53 protein-coding ENSG00000203724 30003 18611 VALIDATED 1606237 C1orf54 chromosome 1 open reading frame 54 1 1 1 q21.2 123360914 123369066 + 148511822 148519951 + 150245183 150253335 + 6480464 16710414;16381901;15489336;15489334;14702039;12477932;11076863 79630 Q5TB16;Q8WWF1 ABBA01049330;ABBA01049331;AC242988;AI004135;AI342055;AK026874;AL138795;AMYH01001373;AX770997;AX770998;BC017761;CH471121;NM_024579 AAH17761;BAB15579;CAE01160;CAE01161;CAI22814;CAI22815;CAL37698;CAL37836;CAL37944;CAL38127;CAL38340;CAL38425;CAL38495;CAL38528;CAL38617;EAW53568;EAW53569;NP_078855;Q8WWF1 Hs.91283 FLJ23221 OTTHUMP00000014530;OTTHUMP00000014531;OTTHUMP00000014532;hypothetical protein LOC79630;uncharacterized protein C1orf54 protein-coding ENSG00000118292 26258 08020 VALIDATED 1607071 C1orf61 chromosome 1 open reading frame 61 1 1 1 q22 129446984 129472113 - 154640679 154665808 - 156374055 156399184 - 6480464 14702039;12477932;10995546;23012322;19922823;22589738 10485 H0Y3T1;H3BLW3;Q13536;Q86W69 ABBA01016658;AK095622;AK095626;AL139130;AMYH01001437;BC010558;BC016405;BC050448;BC050741;BC054045;BC059943;BC107686;BC128199;BC128200;BC141918;BC141919;CH471121;NM_006365;U49857 AAA93029;AAH50448;AAH59943;AAI52850;AAI56769;BAC04592;EAW52956;NP_006356;Q13536 Hs.380027 1659756;1694598;2111139;2135449;2147905;2158073 A002A24;D1S367E;G43296;RH12034;RH70654;STS-D51616 CROC4;FLJ38303;RP11-139I14.3 OTTHUMP00000029020;OTTHUMP00000029024;contingent replication of cDNA 4;contingent replication of cDNA-4;protein CROC-4;transcriptional activator of the c fos promoter;transcriptional activator of the c-fos promoter protein-coding ENSG00000125462 30780 09899 PROVISIONAL 1603978 C1orf63 chromosome 1 open reading frame 63 1 1 1 p36.13-p35.1 23893296 23898542 - 25441327 25446572 - 25568740 25573985 - 6480464 17207965;8125298;16189514;12477932;21700265;21832049 57035 F5GXR1;H3BMN1;H3BMX3;H3BP33;H3BT33;H3BTJ0;H3BVB7;Q9BUV0 ABBA01059930;AF247168;AF267856;AK027318;AK226012;AK292532;AK296798;AL031432;AL576262;AMYH01000380;BC001892;BC041843;BC065040;BI756502;CH471134;NM_020317 AAG44543;AAG44725;AAH01892;AAH41843;AAH65040;ADQ31734;BAB55038;BAF85221;BAG59373;EAW95157;EAW95158;EAW95159;EAW95160;EAW95161;NP_064713;Q9BUV0 Hs.259412;Hs.695168 1734198;2121683;2134980;2170402 D1S1736E;SHGC-74392;SHGC-74420;SHGC-74430 DJ465N24.2.1;NPD014;RP3-465N24.4 OTTHUMP00000040540;UPF0471 protein C1orf63;hypothetical protein LOC57035 protein-coding ENSG00000117616 25234 14835 VALIDATED 1603033 C1orf56 chromosome 1 open reading frame 56 1 1 1 q21.3 124135566 124139206 + 149286883 149290520 + 151020259 151023896 + 12975309;12477932 54964 Q9BUN1 ABBA01049368;AK000526;AK315680;AL590133;AMYH01001386;AY358436;BC002469;CH471121;NM_017860 AAH02469;AAQ88802;BAA91231;BAG38045;EAW53481;EAW53482;NP_060330;Q9BUN1 Hs.549171 1674806;1687191;1697834;1770794;1851755 RH102442;RH93368;SHGC-57518;SHGC-57939;WI-17680 FLJ20519;MENT;RP11-316M1.9 OTTHUMP00000033119;hypothetical protein LOC54964;methylated in normal thymocytes protein;protein MENT;uncharacterized protein C1orf56 protein-coding ENSG00000143443 26045 08625 PROVISIONAL 1601890 C1orf81 chromosome 1 open reading frame 81 1 q32.1 199151855 199202415 + 647215 AC099756;DQ983818;XM_930255;XM_930256;XM_940946 XP_935348;XP_935349;XP_946039 Hs.576503 1848272 AL009556 protein-coding 33122 1602382 C1orf68 chromosome 1 open reading frame 68 1 1 1 q21.3 125770080 125770987 + 150958622 150959529 + 152691998 152692905 + 9344646;17562024;16710414;11698679;11181995;20200978;20360068;21139048 100129271 Q5T750 ABBA01049425;AF005081;AL353779;AMYH01001401;CH471121;CU446285;CU457096;NM_001024679 AAB83961;EAW53369;NP_001019850;Q5T750 Hs.601077 LEP7;XP32 OTTHUMP00000014332;skin-specific protein (xp32);skin-specific protein 32 protein-coding ENSG00000198854 29468 VALIDATED 1603359 C1orf64 chromosome 1 open reading frame 64 1 1 1 p36.13 14810626 14813075 + 16203318 16205771 + 16330731 16333180 + 6480464 16710414;15489334;12477932;21832049;22341523 149563 Q8NEQ6 ABBA01004687;AK127425;AL355994;AMYH01000276;BC017946;CH471167;NM_178840 AAH17946;BAG54501;EAW51759;NP_849162;Q8NEQ6 Hs.29190 ERRF;MGC24047;RP11-5P18.4 ER-related factor;OTTHUMP00000011115;putative uncharacterized protein C1orf64;uncharacterized protein C1orf64 protein-coding 28339 14492 PROVISIONAL 1603881 C1orf67 chromosome 1 open reading frame 67 1 q42.12 223183986 223222249 + 6480464 15146197;12477932 200095 AC093560;AI076810;AL590547;BC017415;BC042869;BC119716;BC119717;CH471098;CN257875;NM_144989 AAI19717;AAI19718;CAH73045;EAW69735;EAW69740;NP_659426;Q0VDD8 Hs.133977 MGC149665;MGC149666;MGC27277;MGC51214 protein-coding 28411 1602974 C1orf65 chromosome 1 open reading frame 65 1 1 1 q41 196786071 196788168 + 221633391 221635435 + 223566715 223568812 + 16710414;16189514;15489334;14702039;12477932 164127 Q8N715 ABBA01006372;AK093047;AL590669;AMYH01001751;BC030026;BC031066;CH471100;DB446947;NM_152610 AAH30026;AAH31066;ADZ16013;BAC04033;EAW93256;NP_689823;Q8N715 Hs.192090 FLJ35728;RP11-76K24.1 OTTHUMP00000036091;hypothetical protein LOC164127;uncharacterized protein C1orf65 protein-coding ENSG00000178395 26654 08761 VALIDATED 1605215 C1orf95 chromosome 1 open reading frame 95 1 1 1 q42.12 199927428 199984233 + 224803124 224859926 + 226736501 226796915 + 6480464 20379614;16710414;16381901;15489336;11230166;11076863;9110174;8619474 375057 F8WD64;Q69YW2 ABBA01009636;ABBA01009637;AF035308;AL134612;AL137507;AL357122;AL359704;AL365444;AMYH01001779;NM_001003665 AAI41660;CAH10697;CAL38625;NP_001003665;Q69YW2 Hs.116827 1643632;1699822;1727339;1732910;1754395;1761731;1778334;2140226;2162443;2166507;2170042 D1S1320;D1S1836E;D1S2578;G63077;RH103518;SHGC-132406;SHGC-145705;SHGC-2930;STS-Z40703;WI-13390;WI-15617 DKFZp761P211;RP11-9C4.1 OTTHUMP00000035707;hypothetical protein LOC375057;spec3-like;uncharacterized membrane protein C1orf95 protein-coding ENSG00000203685 30491 16821 VALIDATED 1603567 C1orf84 chromosome 1 open reading frame 84 1 1 1 p34.2 42137708 42154717 + 43628143 43645152 + 43855556 43872565 + 15028280;14702039;12477932;10737800 149469 AK091821;AL139289;AL583862;BC017576;BC051343;BF926328;BF927604;BU101724;NM_001012961 AAH17576;BAC03755;CAI23383;CAI23384;NP_001012979 Hs.711213 FLJ34502;RP11-506B15.1;SZT2A OTTHUMP00000008576;OTTHUMP00000008577;OTTHUMP00000205510;hypothetical protein LOC149469;seizure threshold 2 homolog A protein-coding 27144 14085 VALIDATED 1602983 C1orf87 chromosome 1 open reading frame 87 1 1 1 p32.1 58744771 58828195 - 60228654 60312014 - 60456066 60539442 - 6480464 12477932;21832049 127795 C9JPP7;Q8N0U7 ABBA01074644;AC097066;AK124828;AK126061;AMYH01000660;AMYH01000661;BC027878;BC042203;CD707889;CH471059;NM_152377 AAH27878;AAH42203;BAC86420;BAG54102;EAX06609;EAX06610;NP_689590;Q8N0U7 Hs.47385 1653982;1671137;1692212;1692894;1727343 AL009480;AL009881;AL033761;AL034159;G63079 FLJ44073;MGC34837 OTTHUMP00000010551;hypothetical protein LOC127795;uncharacterized protein C1orf87 protein-coding ENSG00000162598 28547 11338 VALIDATED 1606707 C1orf74 chromosome 1 open reading frame 74 1 1 1 q32.2 183186556 183188784 - 208022285 208024513 - 209955662 209957890 - 6480464 16710414;15489334;14702039;12477932;21628590 148304 Q96LT6 ABBA01048213;AK057807;AL022398;AMYH01001696;BC039719;CH471100;NM_152485 AAH39719;BAB71584;EAW93440;NP_689698;Q96LT6 Hs.497642 1683289;1689604;2167949 RH67815;RH98921;SHGC-76222 FLJ25078 OTTHUMP00000034651;UPF0739 protein C1orf74;hypothetical protein LOC148304 protein-coding ENSG00000162757 26319 08682 PROVISIONAL 1347949 C1QBPP complement component 1, q subcomponent binding protein, pseudogene 21 21 21 q21.1 6300879 6301886 - 20053205 20054410 - 21131434 21132441 - 10830953 54098 ABBA01057150;AMYH01012156;AP000568;NG_000929 pseudo 1244 INFERRED 1602078 C1orf85 chromosome 1 open reading frame 85 1 1 1 q22 129335452 129338417 - 154529108 154532073 - 156262478 156265480 - 6480464 12477932;19556463;18021396;16303743;12975309;20139978;15342556;16341674;16344560;8889548;19489740 112770 Q8WWB7 ABBA01016664;AK075349;AK296157;AL528533;AL589685;AMYH01001436;AW293248;AY358450;BC011575;BC018757;BC036340;BM833126;BP302818;CA428514;CH471121;CN479212;CS051139;CS072256;CX756681;DA537642;N72839;NM_001256604;NM_001256605;NM_001256608;NM_001256609;NM_144580 AAH11575;AAH18757;AAH36340;AAQ88815;BAC11561;BAG58896;CAI72065;CAI93394;EAW52968;EAW52969;NP_001243533;NP_001243534;NP_001243537;NP_001243538;NP_653181;Q8WWB7 Hs.202522 1652543;1686360;2113474 D1Z10;RH69259;RH92907 MGC31963;NCU-G1;RP11-443G18.2 OTTHUMP00000021233;kidney lysosomal membrane protein;kidney predominant protein NCU-G1;lysosomal protein NCU-G1 protein-coding ENSG00000198715 29436 14544 VALIDATED 1604208 C1orf86 chromosome 1 open reading frame 86 1 1 1 p36.33 453322 477308 + 2110847 2116074 - 2115899 2144159 - 6480464 16344560;14702039;12477932;12136098;11181995;8889548;15146197;19322201;22266823;22705371;22396592 199990 H7C2E6;H7C361;H7C3A6;Q6ZRT9;Q7Z4P6;Q96ND7 ABBA01016086;ABBA01016087;AF461903;AF469129;AJ327662;AK054818;AK055593;AK093927;AK125445;AK126870;AK127994;AK128507;AL545931;AL590822;AMYH01000164;AMYH01000165;AMYH01000166;AMYH01000167;AMYH01000168;AMYH01000169;AMYH01000170;BC041041;BC066360;BC078145;BC103992;BM127377;BM674927;BM682341;BU192678;BU542153;BU626113;CH471183;CN397640;DA596011;NM_001146310;NM_001256945;NM_001256946;NM_001256947;NM_182533;NR_046424;NR_046425;NR_046426;NR_046427 AAH66360;AAI03993;AAP97719;AAQ04817;BAB70965;BAC04254;BAC86730;BAC87220;EAW56125;EAW56126;EAW56127;EAW56128;EAW56129;NP_001139782;NP_001243874;NP_001243875;NP_001243876;NP_872339;Q6NZ36 Hs.107101 1334568;1667480;1679804;1699590;1758967;1769715;2177973;5014003;5015619;5015961;5022322;5022578;5022651;5037552;5112017;5125079;7183686 D11S2560;D11S2921;D11S3114;D15S1477;D17S1136;D1S1423;D1S243;D8S2279;G44365;RH103396;RH16310;RH98469;SHGC-3360;SHGC-74104;SHGC-74107;SHGC-74115 FAAP20;FLJ30256;FLJ31031;FLJ36608;FLJ43456;FLJ46660;FP7162;MGC120153;RP11-181G12.3 Fanconi anemia-associated protein of 20 kDa;OTTHUMP00000039102;OTTHUMP00000196439;OTTHUMP00000196440;OTTHUMP00000196441;OTTHUMP00000196443;OTTHUMP00000196444;hypothetical protein LOC199990;uncharacterized protein C1orf86 protein-coding ENSG00000162585 26428 08707 615183 VALIDATED 1602848 C1orf94 chromosome 1 open reading frame 94 1 1 1 p34.3 32904826 32956861 + 34415858 34457319 + 34632624 34684732 + 16713569;16344560;16189514;14702039;12477932;17207965;16751776;22949513;23088713 84970 Q6P1W5 AA725646;ABBA01023367;ABBA01023368;AC115286;AK123355;AMYH01000483;AMYH01000484;AW117410;BC007637;BC064845;CH471059;DA714248;DB456109;NM_001134734;NM_032884 AAH07637;AAH64845;ADQ32171;BAG53893;EAX07445;EAX07446;NP_001128206;NP_116273;Q6P1W5 Hs.194610 1338171;1713513;1752649;2134459;2151553 AFMb043xh1;D1S2613;G16319;RH120241;SHGC-106497 MGC15882 OTTHUMP00000004131;OTTHUMP00000235371;hypothetical protein LOC84970;uncharacterized protein C1orf94 protein-coding ENSG00000142698 28250 11310 VALIDATED 1315493 C1QA complement component 1, q subcomponent, A chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the A-chain polypeptide of human complement subcomponent C1q. [provided by RefSeq, Jul 2008] 1 1 p36.12 22835705 22838762 + 22963118 22966175 + 1600549;1580863;6480464;6907045;7240710 8840296 9461517;18029348;814163;1249422;18927313;18505047;18504288;18406463;18174230;18054386;17929239;16710414;16566583;16465510;16335952;16046396;15878871;15489334;15231748;15034050;12960167;12847249;12645945;12630757;12477932;11714829;10878362;10528211;9777412;9476117;9225968;9184145;9013976;8778019;8417122;8195709;8172568;7939135;6981411;6981115;2372546;1706597;1537612;1431141;486087;7240;7739575;9780209;9444979;9223728;9052718;1744579;9443108;1875953;12396016;7642209;7507842;11318594;10504397;8252810;8245486;10490997;21862594;20008834;20496011;19423540;19440201;19484134;19493541;19656971;19896716;20139276;20237496;20332777;20406964;20438785;20528885;20560256;21159384;19913121;20628086;17207965;21343881;21256764;21429584;21134100;22472776;22740328;23086952;22879587;23607884;23650384;21951915;22236909;21968398;22321011;22260551;22356764;15174051;21382349;21988832;23080069;22700724 712 P02745 ABBA01059851;AF135157;AF260332;AK311980;AL158086;AMYH01000352;AY789471;BC030153;BC071986;BG548439;BX369252;CH471134;NG_007282;NM_015991 AAD32626;AAG44663;AAH30153;AAH71986;AAV40828;ACE87827;ACT64581;ADQ32158;BAG34919;EAW95014;EAW95015;NP_057075;P02745 Hs.632379 1656224;1775129;1795226 C1QA_66;D1S3273;WI-8760 OTTHUMP00000002936;OTTHUMP00000037919;OTTHUMP00000197085;complement C1q subcomponent subunit A;complement component 1, q subcomponent, alpha polypeptide;complement component C1q, A chain APPROVED protein-coding ENSG00000173372 1241 00393 120550;613652 REVIEWED 1346671 C1QB complement component 1, q subcomponent, B chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the B-chain polypeptide of human complement subcomponent C1q [provided by RefSeq, Jul 2008] 1 1 p36.12 22852269 22860616 + 22979682 22988029 + 1599518;1599508;1599509;1599510;1580863;6480464;6907045;7240710 1362796;16934480;16677633;16345062 1706597;814163;1249422;19344414;18505047;18174230;17513176;16710414;16566583;15709773;15489334;15034050;12960167;12847249;12645945;12477932;10882776;10471215;9777412;9444979;9184145;7939135;6981411;6208566;3180845;3000358;2894352;1537612;1370572;708376;486087;7739575;9780209;1744579;9443108;1875953;12396016;7642209;7507842;11318594;10504397;8252810;8245486;16289162;19423540;19493541;20139276;20237496;20379614;20406964;20438785;20528885;21698244;23607884;23650384;23750785;21951915;21862594;22740328;21988832;7240 713 D6R934;D6RA08;D6RGJ1;P02746 ABBA01059851;AL158086;AMYH01000352;BC008983;BQ711602;CH471134;K03430;L80036;M36278;NG_007283;NM_000491;X03084 AAC41692;AAH08983;AAQ67338;ABM82457;ABM85646;CAA26880;EAW95019;EAW95020;EAW95021;NP_000482;P02746 Hs.8986 1775112;1778347;1791586;1797334;2123915;2132363 C1QB_68.2;PMC115884P1;RH70806;RH78269;SHGC-74363;SHGC-74365 OTTHUMP00000002940;OTTHUMP00000002941;OTTHUMP00000217779;complement C1q subcomponent subunit B;complement component 1, q subcomponent, beta polypeptide;complement component C1q, B chain;complement subcomponent C1q chain B APPROVED protein-coding ENSG00000173369 1242 00394 120570;613652 REVIEWED 1322092 C1QL3 complement component 1, q subcomponent-like 3 10 10 10 p13 16488949 16497211 - 16595748 16604010 - 16555742 16564004 - 6480464 15164054;14702039;10862616;12477932;21378161 389941 Q5VWW1 ABBA01034568;AK094686;AL353576;AL360230;AMYH01002065;BC127716;BC127717;CH471072;CS019532;NM_001010908 AAI27717;AAI27718;AAI60038;CAI58841;EAW86225;NP_001010908;Q5VWW1 Hs.676792;Hs.745101 1655529;1688801;2218324 C1QL3_4481;RH48169;RH98481 C1QTNF13;C1ql;CTRP13;K100 C1q and tumor necrosis factor-related protein 13;C1q/TNF-related protein 13;OTTHUMP00000019215;complement C1q-like protein 3 protein-coding ENSG00000165985 19359 16632 615227 VALIDATED 1314427 C1QL1 complement component 1, q subcomponent-like 1 17 17 17 q21 39747598 39756182 - 40392587 40401170 - 43037061 43045644 - 1580863;6480464 9878755;19275900;15489334;12477932;20237496;19322201 10882 O75973 ABBA01028341;AC015936;AF095154;AF410771;AMYH01008432;AMYH01008433;BC008798;CH471178;NM_006688 AAC64186;AAH08798;AAK95248;EAW51563;NP_006679;O75973 Hs.134012 C1QRF;C1QTNF14;CRF C1q and tumor necrosis factor-related protein 14;C1q-related factor;C1q/TNF-related protein 14;OTTHUMP00000222953 protein-coding ENSG00000131094 24182 12712 611586 PROVISIONAL 1350440 C1QL2 complement component 1, q subcomponent-like 2 2 2 2 q14.2 113239899 113242551 - 119630289 119632941 - 119913819 119916471 - 1580863 18783346;12477932;20237496 165257 Q7Z5L3 ABBA01045930;ABBA01045931;AC016673;AF525315;AMYH01010986;BC043189;BC067896;BC142965;CH471103;CS057609;NM_182528 AAP80787;CAI77590;EAW95208;NP_872334;Q7Z5L3 Hs.433493 C1QTNF10;CTRP10 C1q and tumor necrosis factor related protein 10;C1q and tumor necrosis factor-related protein 10;C1q-domain containing protein;C1q/TNF-related protein 10;OTTHUMP00000203593;complement C1q-like protein 2;gliacolin-like protein-coding ENSG00000144119 24181 12713 614330 VALIDATED 7244829 C1QTNF1-AS1 C1QTNF1 antisense RNA 1 16344560 100507410 ABBA01002902;AC073624;AI031573;AMYH01008678;BC039683;DA938488;NR_040018;NR_040019 Hs.666723 1338130;1699854;1759661 D17S1847;RH103534;SHGC-151249 miscrna ENSG00000265096 44351 VALIDATED 1342690 C1QBP complement component 1, q subcomponent binding protein The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008] 17 17 p13.3 5276823 5283195 - 5336099 5342471 - 1580863;6480464 17620599;22354994;14667819;15231747;8195709;19164550;19004836;18757437;18676636;18538737;18460468;18358546;17907801;17892212;16893067;16871385;16713569;16641292;16455055;16177118;16164755;16140380;16039650;15489334;15467913;15324660;15243141;15163734;15031724;14583623;12833064;12574814;12538033;12477932;12443542;12220632;11870091;11866440;11773076;11549288;11350968;11278463;10831594;10823864;10747014;10097078;10022843;9721222;9284938;8626563;8567680;8262387;8189522;7778269;2372546;1830244;16537587;21627988;11290596;17881511;19190731;19423540;19473882;19565630;19710015;19828637;20100866;20406964;20438785;19913121;20628086;20877624;11859136;8662673;9461517;21156793;21205079;19454010;17620012;21248045;19523114;22863883;16721827;22939629;22960332;17676665;19149558;20617170;22952844;16196087;17314511;20186120;20360068;21081666;21536672;21559373;22008525;21725590;22114354;16212417;17979178;19738201;21988832;22771308;22904065;23246001;23438482;21536856;14559993;18781797;21139048;21726808;21890473;21906983;22118674;22145905;21628590;22101277;22451658;19836239;18172692;21145461;22700724;8710908 708 I3L3B0;I3L3Q7;Q07021 ABBA01054814;AC004148;AF275902;AF338439;AJ297362;AK291516;AMYH01008051;BC000435;BC013731;BT019898;BT019899;CH471108;DQ372108;L04636;NM_001212;X75913 AAA16315;AAF78763;AAH00435;AAH13731;AAK26580;AAV38701;AAV38702;ABC79624;ABM82257;ABM84292;ABM85440;ABM87682;BAF84205;CAA53512;CAB95947;EAW90335;EAW90336;EAW90337;NP_001203;Q07021 Hs.555866 1853151;2148420;2184685;2217086;5123392 C1QBP_3122;D17S2014;RH78721;STS-R63801;WI-18770 GC1QBP;HABP1;SF2p32;gC1Q-R;gC1qR;p32 ASF/SF2-associated protein p32;C1q globular domain-binding protein;complement component 1 Q subcomponent-binding protein, mitochondrial;glycoprotein gC1qBP;hyaluronan-binding protein 1;mitochondrial matrix protein p32;p33;splicing factor SF2-associated protein APPROVED protein-coding ENSG00000108561 1243 03168 601269 REVIEWED 1315664 C1QC complement component 1, q subcomponent, C chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. A deficiency in C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N-terminus, and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the C-chain polypeptide of human complement subcomponent C1q. Alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p36.11 22842734 22847190 + 22970118 22974603 + 1580863;6480464;6907045 1249422;9777412;19493541;19344414;19115936;18838169;18703056;18505047;18504288;18174230;16710414;16566583;16381901;16344560;15489336;15489334;15034050;14702039;12960167;12847249;12645945;12477932;11076863;8630118;7939135;3180845;1706597;486087;7739575;1744579;9443108;1875953;12396016;7642209;7590886;7507842;11318594;10504397;8252810;8245486;10961870;18029348;814163;20833838;19710097;19913121;20628086;15353007;19423540;19790049;20139276;20237496;20406964;20438785;20528885;15174051;23607884;23650384;23750785;21862594;22264191;22740328 714 P02747 ABBA01059851;AF087892;AK057792;AK130613;AK226152;AL158086;AMYH01000352;BC009016;BG060138;CB995661;CH471134;DA849505;NG_007565;NM_001114101;NM_172369 AAH09016;AAP97191;BAB71575;CAL37759;CAL38110;CAL38396;EAW95016;EAW95017;EAW95018;NP_001107573;NP_758957;P02747 Hs.467753 2126558;2162810 RH12869;SHGC-74373 C1Q-C;C1QG;FLJ27103 OTTHUMP00000002932;OTTHUMP00000002933;OTTHUMP00000037922;complement C1q subcomponent subunit C;complement component 1, q subcomponent, gamma polypeptide APPROVED protein-coding ENSG00000159189 1245 00395 120575;613652 REVIEWED 1604955 C1QL4 complement component 1, q subcomponent-like 4 12 12 12 q13.12 48519505 48524276 - 48012467 48017238 - 49726200 49730971 - 15489334;12477932 338761 Q86Z23 ABBA01031521;ABBA01031522;AC125611;AF466366;AMYH01004441;AX925776;BC110812;CH471111;NM_001008223 AAI10813;AAO33387;CAF02403;EAW58065;NP_001008224;Q86Z23 Hs.380386 C1QTNF11;CTRP11;MGC131708 C1q and tumor necrosis factor-related protein 11;C1q/TNF-related protein 11;OTTHUMP00000241396;complement C1q-like protein 4 protein-coding ENSG00000186897 31416 17350 615229 PROVISIONAL 1350694 C1QTNF1 C1q and tumor necrosis factor related protein 1 17 17 17 q25.3 73618468 73644096 + 74531846 74557465 + 77019016 77045870 + 1580863;6480464 18842294;18783346;18171693;16806199;16303743;15489334;14702039;12975309;12477932;12409230;16189514;23000311;16713569;16344560;16386877;21078624 114897 Q6ZMH6;Q9BXJ1 ABBA01002902;AC073624;AF232905;AF329840;AJ272138;AK055541;AK075175;AK172767;AK292034;AMYH01008678;AY358424;BC021553;CD250839;CH471099;CQ764845;CQ783254;DA877694;DA910618;DB126803;NM_030968;NM_153372;NM_198593;NM_198594;NR_049769 AAG44303;AAH21553;AAK17964;AAQ88790;ABM83468;ABM86679;BAB70947;BAC11451;BAD18750;BAF84723;CAC20425;CAF32794;CAF86457;EAW89557;EAW89558;NP_112230;NP_699203;NP_940995;NP_940996;Q9BXJ1 Hs.201398;Hs.741602 1338130;1649916;1759661 D17S1847;D17S1987;SHGC-151249 CTRP1;FLJ90694;GIP;ZSIG37 G protein coupled receptor interacting protein;complement C1q tumor necrosis factor-related protein 1;g protein-coupled receptor-interacting protein protein-coding ENSG00000173918 14324 610365 VALIDATED 1345449 C1QTNF8 C1q and tumor necrosis factor related protein 8 16 16 16 p13.3 1352946 1361608 - 1078227 1086245 - 1138226 1146244 - 12975309;19666007 390664 P60827 ABBA01030330;AC009041;AL031713;AMYH01007017;AY358832;CH471112;FJ422561;NM_207419 AAI56256;AAI57037;AAQ89191;ACJ46463;EAW85686;NP_997302;P60827 Hs.527853 CTRP8;UNQ5829 C1q/TNF-related protein 8;OTTHUMP00000236763;complement C1q tumor necrosis factor-related protein 8 protein-coding 31374 12719 614147 VALIDATED 1312783 C1QTNF3 C1q and tumor necrosis factor related protein 3 5 5 p13 34053720 34079074 - 34017963 34043371 - 6480464 18421280;17534697;17311679;16303743;14702039;14654242;12975309;12477932;11071891;20634891;20483475;20952387;20739398;22837306;16213490 114899 E9PGA6;Q9BXJ4 ABBA01066761;AC139783;AF173888;AF326976;AF329837;AK075533;AK094895;AK127389;AK295968;AK315921;AMYH01015008;AY358388;BC016021;BC112925;BC120990;BX483406;BX640995;CH471118;CS023766;CS051375;EU399231;EU399232;NM_030945;NM_181435 AAI12926;AAI20991;AAK17961;AAK70344;AAQ13635;AAQ88754;ABY86416;ABY86417;BAC11676;BAG54499;BAG58744;BAH14292;CAE45998;CAI59108;CAI72182;EAX10819;EAX10820;EAX10821;NP_112207;NP_852100;Q9BXJ4 Hs.171929 1645945;1657724;1693312;5015881;5022651 D11S2921;G42361;GDB:335751;STS-AA025644;WI-22131 C1ATNF3;CORS26;CTRP3;Corcs;Cors;Cors-26;FLJ37576 OTTHUMP00000115918;OTTHUMP00000219981;cartonectin;collagenous repeat-containing sequence 26 kDa protein;collagenous repeat-containing sequence of 26-kDa;complement C1q tumor necrosis factor-related protein 3;complement-c1q tumor necrosis factor-related protein 3;secretory protein CORS26 protein-coding 14326 12716 612045 VALIDATED 6481186 C1QTNF9-AS1 C1QTNF9 antisense RNA 1 100874232 AL359736 APPROVED miscrna 39906 1348725 C1QTNF2 C1q and tumor necrosis factor related protein 2 5 5 5 q33.3 155807245 155830113 - 159707339 159730226 - 159774761 159797648 - 1580863;6480464 15489334;12975309;12477932 114898 Q9BXJ5 ABBA01044220;ABBA01044221;AC091842;AC112191;AF329836;AMYH01015760;AY358839;BC011699;BC054506;CH471062;NM_031908 AAH11699;AAH54506;AAK17960;AAQ89198;ABM84187;ABM87589;EAW61561;NP_114114;Q9BXJ5 Hs.110062 1683771;2117440;5015961;5094934 C1QTNF2;D15S1477;RH94108;SHGC-57747 CTRP2;zacrp2 OTTHUMP00000160840;complement C1q tumor necrosis factor-related protein 2;complement-c1q tumor necrosis factor-related protein 2 protein-coding ENSG00000145861 14325 12715 VALIDATED 1322231 C1QTNF4 C1q and tumor necrosis factor related protein 4 11 11 11 q11 47753979 47758717 - 47567792 47572537 - 47611216 47615961 - 6480464 16094384;15489334;12477932;21658842 114900 E9PPZ5;Q9BXJ3 ABBA01060698;ABBA01060699;AC104942;AF329838;AMYH01003544;BC035628;BI756346;CH471064;CS208003;NM_031909 AAH35628;AAK17962;CAJ44927;EAW67893;NP_114115;Q9BXJ3 Hs.662633 CTRP4;ZACRP4 OTTHUMP00000234365;complement C1q tumor necrosis factor-related protein 4;complement-c1q tumor necrosis factor-related protein 4 protein-coding ENSG00000172247 14346 12717 614911 VALIDATED 1318784 C1QTNF5 C1q and tumor necrosis factor related protein 5 This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013] 11 11 q23.3 118714862 118716791 - 119209652 119217383 - 1580863;6480464;7240710 15489334;18842294;17766366;17249553;16600989;16396496;16376663;16123441;15340161;14702039;12975309;12944416;12477932;9512423;20554618;22031510;22110650;11263980;18783346;19651784;20621834;22183337;22261190;7835092;22892318;22277927;22632162 114902 Q9BXJ0;Q9BY79 AB055505;ABBA01039674;AF086482;AF329841;AJ862823;AK055132;AL110261;AMYH01004082;AP003396;AY358383;BC029485;BC036675;CH471065;EF444994;NG_012235;NM_001278431;NM_015645 AAH29485;AAK17965;AAQ88749;ACA06014;CAB53702;CAH93522;EAW67481;EAW67482;NP_001265360;NP_056460;Q9BXJ0 Hs.632102 1847650;2219924 D11S869E;MFRP__6310 CTRP5;DKFZp586B0621;FLJ30570;LORD C1q TNF-alpha-related protein 5;complement C1q tumor necrosis factor-related protein 5;myonectin APPROVED protein-coding ENSG00000223953 14344 10575 605670;608752 REVIEWED 1605504 C1QTNF9B C1q and tumor necrosis factor related protein 9B 13 13 13 q12.12 5528082 5533781 - 23363428 23369125 - 24465428 24471125 - 17544811;12477932;19666007;21640322 387911 B2RNN3 ABBA01007883;AL445985;AMYH01004971;AX525130;BC110413;BC137004;BC137006;BC144450;NM_001007537 AAI10414;AAI37005;AAI37007;B2RNN3;CAD57043;NP_001007538 Hs.740810 1697282 RH102138 CTRP9B;MGC117159;RP11-45B20.2 C1q/TNF-related protein 9B;OTTHUMP00000018118;OTTHUMP00000018120;collagen triple helix repeat-containing;complement C1q and tumor necrosis factor-related protein 9B;complement C1q tumor necrosis factor-related protein 9-like;complement C1q tumor necrosis factor-related protein 9B protein-coding ENSG00000205863 34072 17369 614148 PROVISIONAL 1316024 C1QTNF6 C1q and tumor necrosis factor related protein 6 22 22 22 q13.1 21377248 21385372 - 35906152 35914276 - 37576206 37584330 - 6480464 19073967;18978792;15489334;15461802;15340161;12975309;12477932;8889548;19430480;20203524;20410501;21508531;22493691 114904 F8WC87;Q9BXI9 ABBA01055461;AF329842;AK128125;AK226149;AK314060;AMYH01012753;AY358374;BC020551;BM678522;BM722009;BQ674594;BU147265;BU535692;BU542015;BU859813;CB961508;CH471095;CR456451;NM_031910;NM_182486;Z82188 AAH20551;AAK17966;AAQ88740;ABM82401;ABM85589;BAC87283;BAG36766;CAG30337;CAK54433;CAK54732;EAW60145;EAW60146;NP_114116;NP_872292;Q9BXI9 Hs.22011 1690374;2146893;5037552 D8S2279;RH91409;STS-AA011279 CTFP6;CTRP6;ZACRP6 OTTHUMP00000197772;OTTHUMP00000197774;complement C1q tumor necrosis factor-related protein 6;complement-c1q tumor necrosis factor-related protein 6 protein-coding ENSG00000133466 14343 12718 614910 VALIDATED 1602167 C1QTNF9 C1q and tumor necrosis factor related protein 9 13 13 13 q12.12 5946381 5959337 + 23781716 23794669 + 24883716 24896669 + 6480464 12477932;18787108;12975309;17207965 338872 P0C862 ABBA01007888;ABBA01007889;AL359736;AMYH01004973;AY358145;BC040438;BI767787;CH471075;NM_178540 AAH40438;AAQ88512;ADQ33014;EAX08334;EAX08335;NP_848635;P0C862 Hs.362854 1697282 RH102138 AQL1;C1QTNF9A;CTRP9;MGC48915 OTTHUMP00000018123;OTTHUMP00000018124;OTTHUMP00000018125;complement C1q and tumor necrosis factor-related protein 9;complement C1q and tumor necrosis factor-related protein 9A;complement C1q tumor necrosis factor-related protein 9;complement C1q tumor necrosis factor-related protein 9A protein-coding ENSG00000240654 28732 14659 614285 VALIDATED 1315898 C1QTNF7 C1q and tumor necrosis factor related protein 7 4 4 4 p15.3 15805380 15911648 + 14950710 15056365 + 15341560 15447791 + 1580863;6480464 19344414;16344560;15489334;12477932;20585324 114905 J3KPK0;Q9BXJ2 ABBA01032569;ABBA01032570;AC007016;AC099550;AF329839;AK314802;AMYH01014021;BC022187;BC024015;BE856929;BX647781;CH471069;DB069980;DB290077;NM_001135170;NM_001135171;NM_031911 AAH22187;AAH24015;AAK17963;ACE87828;ACT64539;BAG37330;EAW92731;NP_001128642;NP_001128643;NP_114117;Q9BXJ2 Hs.153714 1647888;1711876;1768319;1784996;1846945;2181127;5017535 C1QTNF7;G01801;G49547;SHGC-112449;SHGC-59710;SHGC-67625;WI-3239 CTRP7;ZACRP7 OTTHUMP00000122629;OTTHUMP00000159165;OTTHUMP00000217620;OTTHUMP00000217621;complement C1q tumor necrosis factor-related protein 7;complement-c1q tumor necrosis factor-related protein 7 protein-coding ENSG00000163145 14342 16633 VALIDATED 1602383 C1QTNF9B-AS1 C1QTNF9B antisense RNA 1 13 13 13 q12 5525682 5528896 + 23361028 23364242 + 24463028 24466242 + 6480464 16344560;15930275;12477932;21640322 542767 Q58A44 AB113650;ABBA01007883;AL445985;AMYH01004971;BC015452;BC073902;BC132842;BC132846;BC142999;DA867579;NM_001014442;NM_001135816 AAI40048;BAD93185;NP_001014442;NP_001129288;Q58A44 Hs.642624 1697282;1715469 RH102138;RH120899 PCOTH C1QTNF9B antisense RNA 1 (non-protein coding);prostate collagen triple helix protein;protein PCOTH APPROVED protein-coding 39839 18678 VALIDATED 6769130 C1RL-AS1 C1RL antisense RNA 1 12 p13.31 7260904 7274447 + 12975309;14702039 283314 ABBA01012194;ABBA01012195;ABBA01012196;AC018653;AC233309;AK091792;AL833364;AMYH01004212;AMYH01004213;AY358730;NR_026947 AAQ89092 Hs.744212 1657512;1693914 D12S1953;G42647 MATL2963 APPROVED miscrna ENSG00000205885 27461 PREDICTED 1349741 C20orf109 chromosome 20 open reading frame 109 140829 AL118499 dJ1168M15.1 hypothetical protein LOC140829;uncharacterized protein LOC140829 protein-coding 16103 1346750 C20orf113 chromosome 20 open reading frame 113 170486 AL034550 16107 1343891 C20orf131 chromosome 20 open reading frame 131 140698 AL136172 16124 1345661 C20orf153 chromosome 20 open reading frame 153 170489 AL356755 16146 1319235 C1R complement component 1, r subcomponent 12 12 p13 7132347 7136184 - 7187513 7189412 - 1600551;1580863;6480464;6907045;7240710 17244723 14718574;2834284;814163;1249422;17996945;16335952;15489334;14702039;12914573;12555245;12499050;12477932;12429092;11823416;11445589;11086101;9477945;9174342;8881771;8635594;8227070;8162045;8125298;6303394;3036070;3030286;3021205;2820791;2541966;1533159;737019;10878362;10092586;6282262;2372546;1370572;20008834;20178990;20970424;20592021;20796027;12788922;21988832;23589288;23650384;2387866 715 D3DUT5;F5GWL0;F5GZR1;F5H1N6;F5H1V0;F5H2D0;F5H3A3;F5H3N3;F5H6Y3;F6T9X8;H0YFH3;P00736;R4GMN6 AB083037;ABBA01012193;ABBA01017671;AC094008;AC140077;AC154092;AC233309;AK024951;AK094009;AK222481;AK222491;AK291313;AK298445;AK303750;AMYH01004212;BC035220;CH471116;M14058;NM_001733;X04701 AAA51851;AAH35220;ACE87845;ACT64363;ADZ15339;BAC19850;BAD96201;BAD96211;BAF84002;BAG60662;BAG64722;CAA28407;EAW88687;EAW88688;NP_001724;P00736 Hs.524224 1656329;1690232;1743061;2218742;5016851;5019691;5091782 A009F01;C1R_1615;G32495;GDB:251487;RH17663;RH75712;RH80031 OTTHUMP00000238099;OTTHUMP00000238100;OTTHUMP00000238101;complement C1r subcomponent;complement component 1 subcomponent r protein-coding 1246 01954 216950;613785 PROVISIONAL 1349686 C20orf157 chromosome 20 open reading frame 157 140896 AL031686 CAB42849;Q6KAL7 dJ981L23.3 protein-coding 16150 1347805 C20orf158 chromosome 20 open reading frame 158 85362 NM_152302 16151 1344242 C20orf159 chromosome 20 open reading frame 159 q11.2 140705 AL031658 CAB88102 dJ310O13.4 protein-coding 16152 1346889 C1RL complement component 1, r subcomponent-like 12 12 12 p13.31 8823225 8838082 - 7138291 7153069 - 7247146 7261869 - 6480464 19344414;15385675;15358180;14702039;12838346;12477932;8125298;22779921;16344560;19423540;20379614;20406964;20438785 51279 F5GWF3;F5H2Z5;F5H6S5;F5H7C8;H0YF87;H0YFJ9;H0YFL7;H0YGP8;Q9NZP8 ABBA01012193;ABBA01012194;ABBA01012195;AC018653;AC094008;AC233309;AF178985;AK024084;AK222802;AK314299;AMYH01004212;AMYH01004213;BC062428;CH471116;DB113812;NM_016546 AAF44349;AAH62428;AAI56781;BAB14819;BAD96522;EAW88685;EAW88686;NP_057630;Q9NZP8 Hs.631730 5022578;5022588;5022651;5037552 D11S2921;D1S1423;D5S1597E;D8S2279 C1RL1;C1RLP;C1r-LP;CLSPa C1r-like protein;C1r-like serine protease analog protein;OTTHUMP00000238049;OTTHUMP00000238050;OTTHUMP00000238052;complement C1r subcomponent-like protein;complement C1r-like proteinase protein-coding ENSG00000139178 21265 07093 608974 VALIDATED 1348206 C20orf144 chromosome 20 open reading frame 144 20 20 20 q11.22 29003152 29004752 + 31713781 31715381 + 32250092 32251721 + 15489334;12477932;11780052 128864 Q9BQM9 ABBA01019224;AL121906;AMYH01011855;BC032818;BX378327;CH471077;DQ080434;NM_080825 AAH32818;AAZ39562;EAW76310;NP_543015;Q9BQM9 Hs.324104 2160839 AF021113 dJ63M2.6 OTTHUMP00000030658;bcl-2-like protein from testis;bclt;hypothetical protein LOC128864;uncharacterized protein C20orf144 protein-coding ENSG00000149609 16137 12749 VALIDATED 1347173 C20orf141 chromosome 20 open reading frame 141 20 20 20 p13 2860175 2860994 + 2743657 2744476 + 2795633 2796476 + 15489334;12477932;11780052;23218918 128653 B2R5K4;Q9NUB4 ABBA01053798;AK312218;AL035460;AL713708;AMYH01011671;BC014591;BX094374;CH471133;HC006826;HC044737;NM_001256538;NM_080739 AAH14591;BAG35151;CAD28505;CBH19219;CBH30698;EAX10574;NP_001243467;NP_542777;Q9NUB4 Hs.352187 1772400 G09802 MGC26144;TMEM239;dJ860F19.4 OTTHUMP00000030040;hypothetical protein LOC128653;uncharacterized protein C20orf141 protein-coding ENSG00000258713 16134 12748 VALIDATED 1345172 C20orf176 chromosome 20 open reading frame 176 q13.13 140879 AL133230 CAC00619;Q9NQQ3 dJ530I15.3 protein-coding 16169 1348127 C20orf181 chromosome 20 open reading frame 181 140843 Q92884 AL158091;U63828 AAB06956;CAC17643;Q92884;Q9H1S0 Hs.555583 dJ824A14.1 protein-coding 16174 1605130 C1S complement component 1, s subcomponent This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009] 12 12 p13 7038278 7048597 + 7167980 7178336 + 6480464;6907045;7240710 11527969;814163;1249422;19344414;18062908;16344560;16335952;16169853;15489334;14702039;14674770;12788922;12645945;12477932;11390518;11337467;10878362;10775260;10630213;10092586;9973493;9882449;9856483;9794427;9477945;7779774;6604523;6362661;3756141;3521730;3500856;3007145;2834284;2831944;2553984;2537870;2459702;2372546;2141278;2007122;1854725;1533159;20467438;23592783;23650384;23750785;20008834;22855709;19423540;20406964;20438785;20592021;21103663;2387866;22318606 716 B5MCV4;C9IZP8;C9JY52;F5H7T4;F8WCZ6;H0Y5D1;Q9UCV3 AB009076;ABBA01017671;AC006512;AK025309;AK126711;AK290295;AM886411;AMYH01004212;AU100335;BC056903;CD358820;CH471116;DB257339;DB265957;HC250949;HC311138;J04080;M18767;NG_011694;NM_001734;NM_201442 AAA51852;AAA51853;AAH56903;BAA86864;BAF82984;CBJ05772;CBJ21224;EAW88689;EAW88690;NP_001725;NP_958850;P09871 Hs.458355 1725819;1741637;1797336;1847745;2117999;2175397;5022651 C1S_1475;D11S2921;D12S2020;G61997;GDB:181601;RH17587;STS-T93284 FLJ44757 C1 esterase;OTTHUMP00000197019;OTTHUMP00000197021;OTTHUMP00000197022;OTTHUMP00000239854;basic proline-rich peptide IB-1;complement C1s subcomponent;complement component 1 subcomponent s APPROVED protein-coding ENSG00000182326 1247 00397 120580;613783 REVIEWED 1353499 C2 complement component 2 Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009] 6 6 p21.3 32003473 32021427 + 31865562 31913449 + 1600582;1580863;6480464;6907045;7240710 16518403 162484;8621452;6019133;12878586;15199963;19430225;19399715;19259132;19237749;19197355;19180512;19169232;19015224;18987644;18936151;18806297;18806293;18541650;18515590;18493315;18174230;18069935;17576744;17482263;16670774;16335952;15489334;14702039;12823772;12477932;19344414;11222683;19336475;10946292;10946278;10734221;10072631;9670930;9453398;8326124;8299689;8175701;8125298;8120386;6922702;6555044;6199794;6149575;3643061;3546307;3315100;2997031;2949737;2582254;2493504;2091785;1701385;1577763;1531292;1350302;1084023;978135;11341920;22869612;20417301;21665990;20378180;19117936;19423540;19556007;19661236;19696172;19851445;19948975;20157618;20205591;20381870;20385819;20406964;20438785;20523265;20801516;20888482;19913121;20628086;20679960;21105107;20385826;22610944;23060141;22273503;22566634;22705344;21881993;22232432;21764829;23455636;23233260 717 A2ABG0;B3KTX9;B4DQI1;C9JYQ5;E9PDZ0;F2Z306;F2Z3N2;F8WCJ9;H0Y3H6;H0Y868;P06681;Q53HP3;Q5JP69;Q5ST52;Q8N6L6 ABBA01038093;ABBA01038094;ABBA01038095;ABBA01038096;ABBA01038097;ABBA01038098;ABBA01038099;AF019413;AK096258;AK222537;AK222783;AK298311;AK298808;AK300892;AK300930;AK307930;AK312581;AL645922;AL662834;AL662849;AL671762;AL844853;AMYH01016221;AMYH01016222;AMYH01016223;AY349611;BA000025;BC029781;BC043484;BX005143;BX537504;CH471081;CR388219;CR759782;CR759784;CR933857;DC349268;DC362624;L09708;M15082;M15549;M86920;N63977;NG_011730;NM_000063;NM_001145903;NM_001178063;NR_073063;X04481;X77331 AAA51854;AAA59624;AAA59649;AAB67975;AAB97607;AAH29781;AAH43484;AAQ15273;BAB63292;BAD96257;BAD96503;BAG35475;BAG53241;BAG60565;BAG60943;BAG62532;BAG62560;CAA28169;CAA54545;CAD97767;EAX03548;EAX03549;NP_000054;NP_001139375;NP_001171534;P06681 Hs.408903 1657861;1658938;1797338;2106219;2106221;2189751;5022450 C2_3011;D10S275;D6S2896;D6S2973;N3_3_3;RH18075;WI-8686 CO2;DKFZp779M0311 C3/C5 convertase;OTTHUMP00000029277;OTTHUMP00000174692;OTTHUMP00000174694;OTTHUMP00000174695;OTTHUMP00000215942;OTTHUMP00000215945;complement C2;complement component C2 APPROVED protein-coding ENSG00000166278 1248 08939 217000;603075;613927 REVIEWED 1343604 C20orf187 chromosome 20 open reading frame 187 20 20 p12.2 10956401 10958016 + 10956401 10958016 + 11780052;11181995 728434 H0YFP8;Q9UGB4 AL050322;BX281604;CH471133;XM_001131465 CAB65795;EAX10337;Q9UGB4;XP_001131465 Hs.570365 dJ727I10.1 hCG2045828;putative uncharacterized protein C20orf187 protein-coding 16180 1348785 C20orf112 chromosome 20 open reading frame 112 20 20 20 q11.21 27786886 27827327 - 30498330 30534849 - 31030862 31172875 - 6480464 15489334;15342556;15302935;14702039;12477932;11780052;8889548;20520637;17207965;21765475 140688 H0Y778;Q5JYB6;Q5JYC0;Q5JYC2;Q5W149;Q6P0R2;Q96MY1 ABBA01019261;ABBA01019262;ABBA01019263;ABBA01019264;ABBA01019265;ABBA01019266;ABBA01019267;ABBA01019268;AK056286;AK097804;AL034550;AL122043;AL133343;AL834520;AMYH01011842;AMYH01011843;AMYH01011844;AMYH01011845;AMYH01011846;BC023657;BC038088;BC065370;BC065483;BP365900;BQ067609;BX281715;CH471077;CK300322;NM_001256798;NM_080616 AAH23657;AAH65370;AAH65483;ADQ32944;BAB71138;EAW76367;EAW76368;EAW76369;EAW76370;EAW76371;EAW76372;EAW76373;NP_001243727;NP_542183;Q96MY1 Hs.516978;Hs.729596 1334806;1336853;1669928;1680068;1693406;1706136;1774545;1846807;1846809;2189383;5014053 A006D41;AL034520;D1S3693;D20S187;D20S903;G20732;MARC_3403-3404:991937204:1;RH79830;SHGC-80110;STS-AA011330;WI-14399 C20orf113;DKFZp566G1424;dJ1184F4.2;dJ1184F4.4 OTTHUMP00000030594;hypothetical protein LOC140688;uncharacterized protein C20orf112 protein-coding ENSG00000197183 16106 10728 VALIDATED 1602964 C20orf166-AS1 C20orf166 antisense RNA 1 20 20 20 q13.33 57850607 57859104 - 60552199 60559176 - 61141438 61148768 - 14702039;12477932;16344560 253868 Q96NR2 ABBA01012316;AC161429;AK054875;AK056546;AL449263;AL832097;AMYH01012057;AMYH01012058;BC093856;BC111938;CH471077;DA722400;NR_033263 AAH93856;AAI11939;BAB70817;BAG51743;EAW75356;EAW75357;EAW75358;EAW75359;Q96NR2 Hs.337024 2220606 UniSTS:485778 C20orf200;DKFZp313D1938;FLJ30313;MGC138143;NCRNA00335 APPROVED miscrna ENSG00000174403 26393 08083 VALIDATED 1349021 C20orf166 chromosome 20 open reading frame 166 20 20 20 q13.33 57857990 57878307 + 60558105 60578409 + 61147660 61167971 + 15489334;14702039;12477932;11780052;8681137 128826 Q4VX86;Q9H1L0 ABBA01012316;AK056985;AL449263;AMYH01012058;BC110595;CH471077;F35210;NM_178463 AAI10596;ACT64434;ACT64435;EAW75355;NP_848558;Q9H1L0 Hs.86507 1689095 RH91878 FLJ32423;MGC129808;dJ353C17.1 OTTHUMP00000045645;hypothetical protein LOC128826;uncharacterized protein C20orf166 protein-coding ENSG00000174407 16159 12755 VALIDATED 1606148 C20orf196 chromosome 20 open reading frame 196 20 20 20 p12.3 5802650 5916186 + 5679043 5792558 + 5731043 5844558 + 6480464 12477932;21145461;21130836;20360068 149840 Q5TGA6;Q5TGB0;Q8IYI0 ABBA01053889;ABBA01053890;ABBA01053891;ABBA01053892;AK057796;AK292708;AL035249;AL390028;AMYH01011696;BC035800;CH471133;NM_152504 AAH35800;BAB71578;BAF85397;EAX10411;EAX10412;NP_689717;Q8IYI0 Hs.529340 1650829;1752825;1778498;1846759;2119170;2124434;2162797;2170819;2183822;2186302 CHLC.GGAA9H10;D20S1034;D20S805;G09683;RH36229;RH36491;SHGC-106692;SHGC-14511;Z94356;Z94590 FLJ25067;RP4-784N16.1 OTTHUMP00000030204;OTTHUMP00000030207;hypothetical protein LOC149840;uncharacterized protein C20orf196 protein-coding ENSG00000171984 26318 08681 PREDICTED 1601971 C20orf195 chromosome 20 open reading frame 195 20 20 20 q13.33 58864733 58868396 + 61654817 61658480 + 62184373 62188036 + 6480464 16189514;15489334;12477932;11780052 79025 Q9BVV2 ABBA01021403;AK125168;AL121829;AMYH01012083;BC000912;CH471077;NM_024059 AAH00912;EAW75258;NP_076964;Q9BVV2 Hs.197755 MGC5356 OTTHUMP00000031566;hypothetical protein LOC79025;uncharacterized protein C20orf195 protein-coding ENSG00000125531 28764 14682 PREDICTED 1351674 C20orf173 chromosome 20 open reading frame 173 20 20 20 q11.22 30857159 30866071 - 33578213 33580862 - 34108569 34117481 - 16344560;15489334;14702039;12477932;11780052;11181995 140873 Q4VXR9;Q4VXS0;Q96LM9 ABBA01019159;AK058089;AK310337;AL121586;AMYH01011874;BC112060;BC112062;CH471077;DB057743;NM_001145350;NR_026933 AAI12061;AAI12063;BAB71659;CAO03347;EAW76201;EAW76202;EAW76203;NP_001138822;Q96LM9 Hs.158680 1697156;1798522;1800388;1801014;1801056;1812004;1819962;1974376;1974378;1974380;1974382;1974384;1974386;1974388;1974390;1974392;1974394;1974396;1974398;1974400;1974402;1974404;1974406;1974408;1974410;1974412;1974414;1974416;1974418;1974420;1974422;1974424;1974426;1974428;1974430;1974432;1974434;1974436;1974438;1974440;1974442;1974444;1974446;1974448;1974450;1974452;1974454;1974456;1974458;1974460;1974462;1974464;2215386;2215388;2215390;2215392;2215394;2215396 ECD00099;ECD01054;ECD01373;ECD01396;ECD07007;ECD11052;REN58074;REN58075;REN58076;REN58077;REN58078;REN58079;REN58080;REN58081;REN58082;REN58083;REN58084;REN58085;REN58086;REN58087;REN58088;REN58089;REN58090;REN58091;REN58092;REN58093;REN58094;REN58095;REN58096;REN58097;REN58098;REN58099;REN58100;REN58101;REN58102;REN58103;REN58104;REN58105;REN58106;REN58107;REN58108;REN58109;REN58110;REN58111;REN58112;REN58113;REN58114;REN58115;REN58116;REN58117;REN58118;RH102065;stSG636684;stSG636685;stSG636686;stSG636687;stSG636688;stSG636689 FLJ25360;MGC138265;MGC138267;dJ477O4.4 OTTHUMP00000196097;hypothetical protein LOC140873;uncharacterized protein C20orf173 protein-coding ENSG00000125975 16166 12756 PREDICTED 1604727 C20orf201 chromosome 20 open reading frame 201 20 20 20 q13.33 59400922 59401901 - 62185177 62186156 - 62714733 62715712 - 12477932 198437 Q8TD35 ABBA01021440;AL590548;AMYH01012098;BC036837;CH471077;NM_001007125 AAH36837;EAW75164;EAW75165;NP_001007126;Q8TD35 Hs.570316 OTTHUMP00000031628;bA299N6.3;hypothetical protein LOC198437;uncharacterized protein C20orf201 protein-coding ENSG00000171695 33718 17317 PREDICTED 1349038 C20orf194 chromosome 20 open reading frame 194 This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011] 20 20 20 p13 3291918 3450250 - 3177948 3336255 - 3229948 3388309 - 6480464 15489334;15146197;14702039;12477932;11780052;11549316;11181995;20379614;21683323;21703177 25943 E7EWP7;Q0IIP3;Q5TEA3 ABBA01053818;ABBA01053819;ABBA01053820;ABBA01053821;ABBA01053822;ABBA01053823;AI214589;AK023919;AK226100;AK303375;AK310540;AL109976;AL110249;AL117334;AMYH01011673;AU311821;BC041916;BC064352;BC080528;BC106086;BC122529;BX424937;CH471133;CN285135;DB504338;NG_031974;NM_001009984 AAH64352;AAH80528;AAI06087;AAI22530;BAG64431;CAB53697;EAX10533;EAX10534;NP_001009984;Q5TEA3 Hs.516853 1336545;1643856;1662340;1668508;1669793;1679824;1722301;1759153;1784366;2149207;2165682;2171558 A002R43;D20S193;D20S596E;G06884;G60065;IB607;RH18304;RH98248;SHGC-144481;SHGC-151132;WI-18442;Z94365 DKFZp434N061;MGC117480;MGC141683 OTTHUMP00000030101;hypothetical protein LOC25943;uncharacterized protein C20orf194 APPROVED protein-coding ENSG00000088854 17721 614146 VALIDATED 1348541 C20orf57 chromosome 20 open reading frame 57 83747 AK000652;AL160175 CAI12818;Q5QP66 Hs.434108 FLJ20645;bA243J16.5 protein-coding 16190 1351532 C20orf61 chromosome 20 open reading frame 61 19204726 140833 AL080274 CAB88097;Q9NU29 1677682;1851853;2121465 AL031203;RH98391;Z94306 dJ1012F16.1 protein-coding 16194 1348821 C20orf62 chromosome 20 open reading frame 62 140834 Q4KN68 16195 1602798 C20orf202 chromosome 20 open reading frame 202 20 20 20 p13 1280428 1285247 + 1132104 1136923 + 1184098 1188918 + 14702039;12477932 400831 A1L168 ABBA01053766;AK092524;AL031665;AMYH01011663;BC127730;BC127731;BC141955;BC141956;BC150532;CR746175;NM_001009612 A1L168;AAI27731;AAI27732;NP_001009612 Hs.148503 FLJ35205 OTTHUMP00000159741;hypothetical protein LOC400831;uncharacterized protein C20orf202 APPROVED protein-coding ENSG00000215595 37254 17387 VALIDATED 1347902 C20orf66 chromosome 20 open reading frame 66 20 q13.32 57141393 57163299 - 343629 AL121919;AL136532;CH471077;XM_001716673;XM_001723936;XM_293121 EAW75440;P0C7V3;XP_001716725;XP_001723988;XP_293121 bA379F14.2 protein-coding 16199 1347015 C20orf78 chromosome 20 open reading frame 78 20 p11.23 18790372 18810839 - 11780052 100128496 Q9BR46 ABBA01054056;AL035563;AMYH01011745;AW118618;BX112808;CH471133;CR738909;NM_001242671 EAX10223;NP_001229600;Q9BR46 Hs.664484 1688829;1697104;1703310 RH102036;RH92791;SHGC-68546 dJ1068E13.1 putative uncharacterized protein C20orf78;putative uncharacterized protein C20orf78; uncharacterized protein LOC100128496;uncharacterized protein LOC100128496 protein-coding ENSG00000149443 16210 VALIDATED 1606918 C20orf197 chromosome 20 open reading frame 197 20 20 20 q13.33 55371626 55388652 + 58064375 58081403 + 58630980 58648008 + 15489334;14702039;12975309;12477932;11780052 284756 Q6UX30;Q8N268 ABBA01005955;AK091179;AL132822;AMYH01012030;AY358539;BC101349;BC101350;BC101351;CH471077;NM_173644 AAI01350;AAI01351;AAI01352;AAQ88903;BAC03602;EAW75416;NP_775915;Q8N268 Hs.335319 FLJ33860;MGC120496;RP5-1017F8.1 OTTHUMP00000031440;hypothetical protein LOC284756;uncharacterized protein C20orf197 protein-coding ENSG00000176659 26601 08749 PREDICTED 1352255 C20orf89 chromosome 20 open reading frame 89 140882 AL157414 16220 1343671 C20orf80 chromosome 20 open reading frame 80 14702039 91222 F5H5R5;H0YEZ2;Q96ND1;Q9BZ00;Q9BZ01 AK055615;AL441988 BAB70972;CAC27358;Q96ND1;Q9BZ00;Q9BZ01 Hs.653099 bA348I14.2 protein-coding 15792 1352058 C21orf104 chromosome 21 open reading frame 104 54748 Q9UJ94 AJ011409 CAB56458;Q9UJ94 Hs.548784 1821612;1896116;1896118 ECD11892;REN18844;REN18845 miscrna 17215 1343792 C21orf105 chromosome 21 open reading frame 105 6480464 90625 XM_033004 2170961;2170963 A005Z22;G20624 17216 1342765 C21orf112 chromosome 21 open reading frame 112 378824 BF694301 Hs.125113 PRED71 protein-coding 19724 1345871 C21orf113 chromosome 21 open reading frame 113 378825 P0C852 AI015287 19725 1349466 C21orf114 chromosome 21 open reading frame 114 378826 AF304443 19726 1352954 C21orf115 chromosome 21 open reading frame 115 378827 19746 1353985 C21orf116 chromosome 21 open reading frame 116 378820 AF130090 AAG35516;Q9H386 PRED82 protein-coding 17285 1342696 C21orf118 chromosome 21 open reading frame 118 378829 AF304442 23127 2303842 C20orf203 chromosome 20 open reading frame 203 20 20 20 q11.21 27975409 27995749 - 30701895 30725404 - 31219427 31239783 - 16344560;14702039;12477932;8889548;20376170 284805 Q8NBC4 ABBA01019260;AK091025;AMYH01011848;BC105014;BC105042;BM662904;BU736724;CH471077;CR383701;DA522519;DB134998;DB160076;FO393400;GU931819;GU931820;NM_182584 ADF32072;ADF32073;BAC03569;EAW76366;NP_872390;Q8NBC4 Hs.353262 1667528;5493305 UniSTS:485666;WI-14823 FLJ33706 alugen;uncharacterized protein C20orf203 APPROVED protein-coding 26592 08164 VALIDATED 1347446 C21orf12 chromosome 21 open reading frame 12 54096 1254 1347663 C21orf124 chromosome 21 open reading frame 124 85006 BC021550;NM_032920 19728 1317125 C20orf24 chromosome 20 open reading frame 24 20 20 20 q11.23 31941205 31948034 + 34667581 34674374 + 35234137 35240960 + 6480464 17353931;15489334;15178406;14759258;12477932;11780052;8824393;20877624;21890473;21906983;22190034 55969 Q9BUV8 ABBA01006582;AF112213;AF274936;AF274948;AL050318;AMYH01011882;BC001871;BC004446;BG395753;BI223439;BQ086248;BU174619;BU189639;BU194101;BU848918;CD370956;CH471077;NM_001199534;NM_018840;NM_199483;NR_026562;S83364 AAB50849;AAF17201;AAH01871;AAH04446;AAK07515;AAK07525;EAW76120;EAW76121;EAW76122;EAW76123;EAW76124;EAW76125;NP_001186463;NP_061328;NP_955777;Q9BUV8 Hs.584985 1662759;1671904;2151711 D20S1010;HUM000AA21;WI-19258 PNAS-11;RIP5 OTTHUMP00000030851;OTTHUMP00000030853;OTTHUMP00000030854;RAB5-interacting protein;uncharacterized protein C20orf24 protein-coding ENSG00000101084 15870 12761 VALIDATED 1343597 C21orf15 chromosome 21 open reading frame 15 21 21 q11 394568 399795 + 15215454 15220685 - 11707072;10830953 54094 ABBA01057063;AL109748;AMYH01012135;AY040090;BX648100;CA415229;NR_026755 AAK74137 Hs.580910 5112333 RH103540 miscrna ENSG00000228314 1257 PREDICTED 1348175 C21orf19 chromosome 21 open reading frame 19 21 21 21 q22.13 22701316 22703084 + 36424322 36426086 + 37502452 37504216 + 11707072;10830953 54092 AP000689;AP001725;NG_000928 pseudo 1259 1323021 C20orf26 chromosome 20 open reading frame 26 20 20 20 p11.23 20107179 20415417 + 19981196 20289346 + 20033158 20341346 + 6480464 18029348;19240061;15489334;14702039;12477932;11780052;20379614 26074 C9J610;C9JA66;C9JHE8;C9JMV0;F8W6E2;F8WDF5;H0Y3Y7;Q9H128 ABBA01054080;ABBA01054081;ABBA01054082;ABBA01054083;ABBA01054084;ABBA01054085;ABBA01054086;ABBA01054087;ABBA01054088;AK057364;AK304174;AK307817;AL035454;AL049648;AL117439;AL121721;AL158849;AL161658;AMYH01011760;AMYH01011761;BC015959;BC028708;BC031674;CH471133;NM_001167816;NM_015585 AAH28708;AAH31674;BAB71452;BAH14126;CAB55925;EAX10202;EAX10203;EAX10204;NP_001161288;NP_056400;Q8NHU2 Hs.729168 1643668;1644701;1652420;1654834;1671866;1711252;1767504;2121760;2135787;2138745 RH65785;RH69393;SHGC-37392;SHGC-84987;STS-N33550;STS-N35603;Z94394;Z94527;Z94594;Z94670 DKFZp434K156;dJ1002M8.3;dJ1178H5.4 OTTHUMP00000030381;OTTHUMP00000030383;OTTHUMP00000214505;hypothetical protein LOC26074;uncharacterized protein C20orf26 protein-coding ENSG00000089101 15872 16647 VALIDATED 1323352 C20orf27 chromosome 20 open reading frame 27 20 20 20 p13 3796043 3810314 - 3682158 3696452 - 3734146 3749035 - 6480464 15489334;14702039;12665801;12477932;11780052;8125298;16189514;19913121;20628086;17549794;20811636;21139048;16344560 54976 H7BYU9;Q9GZN8 ABBA01053828;ABBA01053829;AK000557;AK024220;AK097645;AK124341;AK125202;AK225109;AK290955;AK308520;AL109804;AMYH01011679;BC010873;BC012196;BC024036;BC069204;BF978883;BG474804;CH471133;DB317576;NM_001039140;NM_001258429;NM_001258430;NR_047675 AAH12196;AAH24036;ADZ15963;BAA91252;BAB14854;BAF83644;BAG53501;EAX10508;EAX10510;EAX10511;NP_001034229;NP_001245358;NP_001245359;Q9GZN8 Hs.274422 1784344;2128238 SHGC-106101;WI-18677 FLJ20550 OTTHUMP00000030113;OTTHUMP00000030114;OTTHUMP00000030116;OTTHUMP00000030117;UPF0687 protein C20orf27;hypothetical protein LOC54976 protein-coding ENSG00000101220 15873 16648 VALIDATED 1351394 C21orf30 chromosome 21 open reading frame 30 21 q22.3 44704251 44704985 + 6480464 16780588;10830953 54083 Q9UFM2 AL117578;AP001065;CH471079;XM_001720003;XM_001722905;XM_001726311 CAB56001;EAX09424;Q9UFM2;XP_001720055;XP_001722957;XP_001726363 Hs.542533 DKFZP434C128 protein-coding 1270 1346202 C21orf32 chromosome 21 open reading frame 32 q22.3 10830953;15782160 54081 AP001753 BAA95555;P57056 putative gene with similarities to yeast gene YDL038c;putative uncharacterized protein C21orf32 protein-coding 1272 1342910 C20orf85 chromosome 20 open reading frame 85 20 20 20 q13.32 53466441 53476642 + 56159389 56169592 + 56725983 56736186 + 17304513;15489334;12477932;11780052;8889548;23251661 128602 Q9H1P6 ABBA01052938;AL354776;AMYH01012016;BC035405;BU676204;BX093883;CH471077;NM_178456 AAH35405;EAW75503;NP_848551;Q9H1P6 Hs.43977 LLC1;bA196N14.1 OTTHUMP00000031384;hypothetical protein LOC128602;low in lung cancer 1;uncharacterized protein C20orf85 protein-coding ENSG00000124237 16216 12787 VALIDATED 1346131 C20orf96 chromosome 20 open reading frame 96 20 20 20 p13 346365 366233 - 199524 219390 - 251504 271419 - 14702039;12477932;11780052;16344560;17207965;21906983 140680 B7ZML9;F5GZA9;Q5JYC3;Q9NUD7 AA921838;ABBA01053744;ABBA01053745;AK091924;AK097394;AK302223;AK304526;AL034548;AMYH01011650;AMYH01011651;AMYH01011652;BC051762;BC134417;BC137450;BC144648;BC144649;BX640715;CH471133;DB226405;DB320878;EL734555;NM_080571;NM_153269 AAI34418;AAI37451;AAI44650;BAC03772;BAC05033;BAH13653;BAH14207;CAE45834;EAX10681;EAX10682;NP_542138;NP_695001;Q9NUD7 Hs.348112 FLJ40075;dJ1103G7.2 OTTHUMP00000029908;OTTHUMP00000029909;hypothetical protein LOC140680;uncharacterized protein C20orf96 protein-coding ENSG00000196476 16227 12790 VALIDATED 1345634 C21orf36 chromosome 21 open reading frame 36 54077 1276 1345304 C21orf37 chromosome 21 open reading frame 37 54076 A6NIU2 NM_001005521 1681861 RH46019 1277 1347138 C21orf40 chromosome 21 open reading frame 40 54074 1281 1353237 C21orf47 chromosome 21 open reading frame 47 q22.11 10830953 54068 AI282569 protein-coding 1288 1346218 C21orf53 chromosome 21 open reading frame 53 54063 1295 1349584 C21orf54 chromosome 21 open reading frame 54 q22.11 10830953 339629 A6NM66 AA934973 A6NM66 Hs.125234 1808730;1823048;1826770;1839716;1841808;1842190;1845260;2026248;2026250;2026252;2026254;2026256;2026258;2026260;2026262;2026264;2026266;2026268;2026270;2026272;2026274;2026276;2026278;2026280;2026282;2026284;2026286;2026288;2026290;2026292;2026294;2026296;2026298;2026300;2026302;2026304;2026306;2026308;2026310;2100878;2100880;2100882;2100884;2100886 ECD05347;ECD12612;ECD14499;ECD21041;ECD22103;ECD22298;ECD23847;REN84124;REN84125;REN84126;REN84127;REN84128;REN84129;REN84130;REN84131;REN84132;REN84133;REN84134;REN84135;REN84136;REN84137;REN84138;REN84139;REN84140;REN84141;REN84142;REN84143;REN84144;REN84145;REN84146;REN84147;REN84148;REN84149;REN84150;REN84151;REN84152;REN84153;REN84154;REN84155;stSG606970;stSG606971;stSG606972;stSG606973;stSG606974 protein-coding 1296 1350828 C21orf119 chromosome 21 open reading frame 119 21 21 21 q22.11 18949069 18949896 + 32687326 32688140 + 33765442 33766269 + 6480464 15489334;12477932 84996 Q96HZ7 ABBA01057313;AI369236;AK026376;AMYH01012199;AP000269;BC007928;CH471079;NR_026845 EAX09875;Q96HZ7 Hs.58149 1799574;1818284;1819006;1853658;2019704;2019706;2019708;2019710;2019712;2019714;2019716;2019718;2019720;2019722;2019724;2019726;2019728;2019730;2099772;2099774 ECD00639;ECD10199;ECD10568;REN80800;REN80801;REN80802;REN80803;REN80804;REN80805;REN80806;REN80807;REN80808;REN80809;REN80810;REN80811;REN80812;REN80813;SHGC-57897;stSG606361;stSG606362 MGC14136;PRED84 miscrna ENSG00000256073 23128 12792 VALIDATED 1353705 C21orf128 chromosome 21 open reading frame 128 21 21 21 q22.3 28669792 28676192 - 42395313 42401707 - 43522244 43528644 - 15489334;14702039;12477932;10830953 150147 Q8N2C9 ABBA01014177;AK090790;AMYH01012267;AP001621;BC063412;CH471079;NR_027243 BAC03519;EAX09577;Q8N2C9 Hs.558646 1653720;1660667 SHGC-52060;WI-18470 FLJ33471 miscrna ENSG00000184385 23821 10740 VALIDATED 1347551 C21orf64 chromosome 21 open reading frame 64 59270 13560 1351432 C21orf58 chromosome 21 open reading frame 58 21 21 21 q22.3 32834819 32857559 - 46545475 46568213 - 47721047 47743785 - 6480464 14702039;12477932;11707072;10830953;7757816;18624398 54058 C9JH41;H0YCB6;H7C1T9;P58505;Q0VAL8;Q8N7N9 ABBA01021762;ABBA01021763;AK056387;AK096641;AK098098;AMYH01012337;AP000471;AY039243;AY039244;BC026042;BC028934;BC044223;BC098408;BC121007;BC121008;BM475055;CH471079;NM_058180 AAI21008;AAI21009;AAK72408;AAK72409;BAC05232;BAG51693;EAX09282;EAX09283;EAX09284;EAX09285;EAX09286;EAX09287;NP_478060;P58505 Hs.236572 1735014;5016781;5022578 D1S1423;D21S1714E;SHGC-67307 OTTHUMP00000115789;OTTHUMP00000115793;OTTHUMP00000115795;hypothetical protein LOC54058;uncharacterized protein C21orf58 protein-coding ENSG00000160298 1300 10755 VALIDATED 1320014 C21orf2 chromosome 21 open reading frame 2 Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012] 21 21 21 q22.3 30854055 30864461 - 44573255 44583574 - 45748827 45759285 - 6480464 16341674;15489334;15068244;12477932;10830953;9465297;17207965;12624744;9325172;21906983 755 G5E952;O43822 AB209578;ABBA01074163;AMYH01012292;AP001062;AP001754;BC031300;BC072012;BM761336;CH471079;NG_032952;NM_001271440;NM_001271441;NM_001271442;NM_004928;U84569;U84570;Y11392;Z93322 AAB46590;AAB46591;AAH31300;AAH72012;ADQ32159;BAA95562;BAD92815;CAA72202;CAB07532;EAX09431;EAX09432;EAX09433;EAX09434;EAX09435;NP_001258369;NP_001258370;NP_001258371;NP_004919;O43822 Hs.517331 1644669;1681712;1730873;1773776;1790651;1793954;2144290 A009B16;D21S400;PMC310701P4;RH92553;SHGC-57478;STS-AA022689;STS_CEB281 A2;YF5;YF5/A2 OTTHUMP00000109511;OTTHUMP00000109512;OTTHUMP00000109513;hypothetical protein LOC755;nuclear encoded mitochondrial protein C21orf2;nuclear encoded mitochondrial protein C21orf2; protein C21orf2;nuclear encoded mitochondrial protein C21orf2; uncharacterized protein C21orf2;nuclear encoded mitochondrial protein, cDNA A2-YF5;uncharacterized protein C21orf2 APPROVED protein-coding ENSG00000160226 1260 603191 REVIEWED 1347089 C21orf49 chromosome 21 open reading frame 49 21 21 21 q22.11 19328068 19353675 + 33066344 33091825 + 34144411 34170017 + 16344560;14702039;12477932;10830953;7782076 54067 F2Z3P8;F8WB83;F8WEE1;Q17RA5 ABBA01057320;ABBA01057321;AK096601;AMYH01012203;AP000280;BC034794;BC117397;BC117399;CH471079;DA321673;DA776905;NR_024622;NR_024623 EAX09855;Q17RA5 Hs.54725 1800968;1804190;1804390;1804552;1806864;1809768;1814340;1820272;1826312;1826678;1827304;1827390;1827464;1832798;1834974;1836520;1840318;1858580;2022812;2022814;2022816;2022818;2022820;2022822;2022824;2022826;2022828;2022830;2022832;2022834;2022836;2022838;2022840;2022842;2022844;2022846;2022848;2022850;2022852;2022854;2022856;2022858;2022860;2022862;2022864;2022866;2022868;2022870;2022872;2022874;2022876;2022878;2022880;2022882;2022884;2022886;2022888;2022890;2022892;2022894;2022896;2022898;2022900;2022902;2022904;2022906;2022908;2022910;2022912;2022914;2022916;2022918;2022920;2022922;2022924;2022926;2022928;2022930;2022932;2022934;2022936;2022938;2022940;2022942;2022944;2022946;2022948;2022950;2022952;2022954;2022956;2022958;2022960;2022962;2022964;2022966;2022968;2022970;2022972;2022974;2022976;2022978;2022980;2022982;2022984;2022986;2022988;2022990;2022992;2022994;2022996;2022998;2023000;2023002;2023004;2023006;2023008;2023010;2023012;2023014;2023016;2023018;2023020;2023022;2023024;2023026;2023028;2023030;2023032;2023034;2023036;2023038;2023040;2023042;2023044;2023046;2023048;2023050;2023052;2100296;2100298;2100300;2100302;2100304;2100306;2100308;2100310;2100312;2100314;2100316;2100318;2100326;2100328;2100330;2100332;2112684;5109281 D1S1425;D3S4402;ECD01349;ECD03015;ECD03119;ECD03205;ECD04397;ECD05876;ECD08199;ECD11210;ECD14269;ECD14453;ECD14767;ECD14811;ECD14848;ECD17540;ECD18638;ECD19423;ECD21344;ECD24491;REN82404;REN82405;REN82406;REN82407;REN82408;REN82409;REN82410;REN82411;REN82412;REN82413;REN82414;REN82415;REN82416;REN82417;REN82418;REN82419;REN82420;REN82421;REN82422;REN82423;REN82424;REN82425;REN82426;REN82427;REN82428;REN82429;REN82430;REN82431;REN82432;REN82433;REN82434;REN82435;REN82436;REN82437;REN82438;REN82439;REN82440;REN82441;REN82442;REN82443;REN82444;REN82445;REN82446;REN82447;REN82448;REN82449;REN82450;REN82451;REN82452;REN82453;REN82454;REN82455;REN82456;REN82457;REN82458;REN82459;REN82460;REN82461;REN82462;REN82463;REN82464;REN82465;REN82466;REN82467;REN82468;REN82469;REN82470;REN82471;REN82472;REN82473;REN82474;REN82475;REN82476;REN82477;REN82478;REN82479;REN82480;REN82481;REN82482;REN82483;REN82484;REN82485;REN82486;REN82487;REN82488;REN82489;REN82490;REN82491;REN82492;REN82493;REN82494;REN82495;REN82496;REN82497;REN82498;REN82499;REN82500;REN82501;REN82502;REN82503;REN82504;REN82505;REN82506;REN82507;REN82508;REN82509;REN82510;REN82511;REN82512;REN82513;REN82514;REN82515;REN82516;REN82517;REN82518;REN82519;REN82520;REN82521;REN82522;REN82523;REN82524;stSG606659;stSG606660;stSG606661;stSG606662;stSG606663;stSG606664;stSG606665;stSG606666;stSG606667;stSG606668;stSG606669;stSG606670;stSG606674;stSG606675;stSG606676;stSG606677 miscrna 1290 10750 VALIDATED 1342798 C21orf72 chromosome 21 open reading frame 72 282568 16026 1354052 C21orf79 chromosome 21 open reading frame 79 282570 16340 1347302 C21orf77 chromosome 21 open reading frame 77 21 32869022 32870473 - 55264 AK001794;NM_018277 16080 1343736 C21orf62 chromosome 21 open reading frame 62 21 21 21 q22.11 19346641 19369711 - 33084855 33107876 - 34162984 34186053 - 6480464 17567994;15342556;15146197;12477932;12036298;10773462;20494980 56245 H7BYF8;Q9NYP8 ABBA01057320;ABBA01057321;AC203640;AF231922;AI651610;AK290983;AMYH01012203;AMYH01012204;AP000280;BC004959;BC069689;BC069709;BC069766;BC069779;BE466137;BM512397;BP214434;BU789528;CH471079;CN428551;DQ656042;NM_001162495;NM_001162496;NM_019596 AAF72946;AAI72318;BAF83672;EAX09853;EAX09854;NP_001155967;NP_001155968;NP_062542;Q9NYP8 Hs.517235 1803052;1804190;1804390;1804552;1814340;1815080;1816370;1816452;1816978;1819112;1825664;1826154;1827304;1827390;1827970;1829764;1830526;1834394;1836520;1838144;1838580;1838924;1839456;1840318;1858580;2022982;2022984;2022986;2022988;2022990;2022992;2022994;2022996;2022998;2023000;2023002;2023004;2023006;2023008;2023010;2023012;2023014;2023016;2023018;2023020;2023022;2023024;2023026;2023028;2023030;2023032;2023034;2023036;2023038;2023040;2023042;2023044;2023046;2023048;2023050;2023052;2023054;2023056;2023058;2023060;2023062;2023064;2023066;2023068;2023070;2023072;2023074;2023076;2023078;2023080;2023082;2023084;2023086;2023088;2023090;2023092;2023094;2023096;2023098;2023100;2023102;2023104;2023106;2023108;2023110;2023112;2023114;2023116;2023118;2023120;2023122;2023124;2023126;2023128;2023130;2023132;2023134;2023136;2023138;2023140;2023142;2023144;2023146;2023148;2023150;2023152;2023154;2023156;2023158;2023160;2023162;2023164;2023166;2023168;2023170;2023172;2023174;2023176;2023178;2023180;2023182;2023184;2023186;2023188;2023190;2023192;2023194;2023196;2023198;2023200;2100320;2100322;2100324;2100326;2100328;2100330;2100334;2100336;2100338;2100340;2100342;2100344;2100346;2100348;2100350;2100352;2100354;2100356;2100358;2100360;2100362;2100364;5015861;5015881;5015961;5021228;5022578;5037552;7185938 D10S16;D15S1477;D1S1423;D8S2279;ECD02417;ECD03015;ECD03119;ECD03205;ECD08199;ECD08572;ECD09227;ECD09268;ECD09538;ECD10622;ECD13940;ECD14187;ECD14767;ECD14811;ECD15108;ECD16014;ECD16398;ECD18345;ECD19423;ECD20244;ECD20464;ECD20641;ECD20910;ECD21344;ECD24491;GDB:312794;GDB:335751;REN82489;REN82490;REN82491;REN82492;REN82493;REN82494;REN82495;REN82496;REN82497;REN82498;REN82499;REN82500;REN82501;REN82502;REN82503;REN82504;REN82505;REN82506;REN82507;REN82508;REN82509;REN82510;REN82511;REN82512;REN82513;REN82514;REN82515;REN82516;REN82517;REN82518;REN82519;REN82520;REN82521;REN82522;REN82523;REN82524;REN82525;REN82526;REN82527;REN82528;REN82529;REN82530;REN82531;REN82532;REN82533;REN82534;REN82535;REN82536;REN82537;REN82538;REN82539;REN82540;REN82541;REN82542;REN82543;REN82544;REN82545;REN82546;REN82547;REN82548;REN82549;REN82550;REN82551;REN82552;REN82553;REN82554;REN82555;REN82556;REN82557;REN82558;REN82559;REN82560;REN82561;REN82562;REN82563;REN82564;REN82565;REN82566;REN82567;REN82568;REN82569;REN82570;REN82571;REN82572;REN82573;REN82574;REN82575;REN82576;REN82577;REN82578;REN82579;REN82580;REN82581;REN82582;REN82583;REN82584;REN82585;REN82586;REN82587;REN82588;REN82589;REN82590;REN82591;REN82592;REN82593;REN82594;REN82595;REN82596;REN82597;REN82598;stSG606671;stSG606672;stSG606673;stSG606674;stSG606675;stSG606676;stSG606678;stSG606679;stSG606680;stSG606681;stSG606682;stSG606683;stSG606684;stSG606685;stSG606686;stSG606687;stSG606688;stSG606689;stSG606690;stSG606691;stSG606692;stSG606693 B37;C21orf120;PRED81 OTTHUMP00000216389;OTTHUMP00000216390;OTTHUMP00000216391;hypothetical protein LOC56245;uncharacterized protein C21orf62 protein-coding 1305 10759 VALIDATED 1348638 C21orf86 chromosome 21 open reading frame 86 21 45537947 45541697 - 6480464 12036297 257103 P59089 AF426264;NM_153454 16420 1343023 C21orf33 chromosome 21 open reading frame 33 This gene encodes a potential mitochondrial protein that is a member of the DJ-1/PfpI gene family. This protein is overexpressed in fetal Down syndrome brain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 21 21 21 q22.3 30659152 30671262 + 44377922 44390033 + 45553494 45565605 + 6480464 15489334;15082224;12477932;10830953;9205129;9179495;9150728;8975701;8889549;8753807;1286669;15342556;16169070;2290832;20877624;21832049;21139048;21890473;20301552;21628590 8209 F2Z2Q0;H7BYH1;H7C1F6;H7C2G3;P78474 AA045757;AB001517;ABBA01074152;AMYH01012287;AP001055;AP001753;BC002370;BC003587;BP283346;CH471079;D86060;D86061;D86062;NG_021281;NM_004649;NM_198155;U53003;U53007;Y07572 AAC50937;AAC50938;AAH02370;AAH03587;ADZ15894;BAA12984;BAA12985;BAA20888;BAA21138;BAA21139;BAA95554;CAA68857;EAX09454;EAX09455;EAX09456;NP_004640;NP_937798;P30042 Hs.413482 1646362;1682954;1793950;2128317;2131386;2132587;2160690 D21S1851;PMC310701P2;RH68310;RH75349;SHGC-64268;SHGC-87686;SHGC-87690 D21S2048E;ES1;GT335;HES1;KNP-I;KNPH;KNPI ES1 protein homolog, mitochondrial;Keio novel protein I;OTTHUMP00000109519;OTTHUMP00000109520;OTTHUMP00000109521;OTTHUMP00000109522;OTTHUMP00000174938;human HES1 protein, homolog to E.coli and zebrafish ES1 protein APPROVED protein-coding ENSG00000160221 1273 09044 601659 REVIEWED 1351562 C21orf89 chromosome 21 open reading frame 89 21 q22.3 45502890 45502991 + 12036297 114042 P59042 AF426268 AAM53524;P59042 Hs.653520 protein-coding 16425 1315861 C21orf59 chromosome 21 open reading frame 59 21 21 21 q22.1 19157614 19168548 - 32895966 32906537 - 33973984 33984918 - 6480464 15489334;14702039;16780588;17567994;15592455;12477932;8125298;21832049;17207965;17370265;21900206;19471022;21139048;21906983 56683 C9J818;C9JX57;D3DSE6;F5GXV2;H7C2R6;H7C3D9;P57076;Q9NX33 ABBA01057320;AF282851;AK000474;AK055328;AK094456;AK097566;AK098577;AK223318;AK225697;AK300970;AMYH01012202;AP000275;BC000709;CH471079;DQ655907;DQ655908;DQ656039;FJ649644;NM_021254;NR_036552 AAG00496;AAH00709;ACX50615;ADQ31713;BAA91189;BAB70903;BAC04359;BAD97038;BAG62593;EAX09865;EAX09866;EAX09867;EAX09868;NP_067077;P57076 Hs.5811 1666736;1776708;1778530;1808598;1809682;1810472;1810474;1811526;1814042;1814338;1816536;1829542;1830474;1835940;1843966;2021408;2021410;2021412;2021414;2021416;2021418;2021420;2021422;2021424;2021426;2021428;2021430;2021432;2021434;2021436;2021438;2021440;2021442;2021444;2021446;2021448;2021450;2021452;2021454;2021456;2021458;2021460;2021462;2021464;2021466;2021468;2021470;2021472;2021474;2021476;2021478;2021480;2021482;2021484;2021486;2021488;2021490;2021492;2021494;2021496;2021498;2021500;2021502;2021504;2021506;2021508;2021510;2021512;2021514;2021516;2021518;2021520;2021522;2100040;2100042;2100044;2100046;2100048;2100050;2100052;2100054;2100056;2100058;2177626;2184240;2185229 D21S1860;ECD05281;ECD05833;ECD06229;ECD06230;ECD06763;ECD08048;ECD08198;ECD09310;ECD15902;ECD16371;ECD19131;ECD23195;REN81693;REN81694;REN81695;REN81696;REN81697;REN81698;REN81699;REN81700;REN81701;REN81702;REN81703;REN81704;REN81705;REN81706;REN81707;REN81708;REN81709;REN81710;REN81711;REN81712;REN81713;REN81714;REN81715;REN81716;REN81717;REN81718;REN81719;REN81720;REN81721;REN81722;REN81723;REN81724;REN81725;REN81726;REN81727;REN81728;REN81729;REN81730;REN81731;REN81732;REN81733;REN81734;REN81735;REN81736;REN81737;REN81738;REN81739;REN81740;REN81741;REN81742;REN81743;REN81744;REN81745;REN81746;REN81747;REN81748;REN81749;REN81750;SHGC-23990;SHGC-52132;SHGC-87601;SHGC-87602;SHGC-87603;stSG606525;stSG606526;stSG606527;stSG606528;stSG606529;stSG606530;stSG606531;stSG606532;stSG606533;stSG606534 C21orf48;FLJ20467;FLJ37137;FLJ40247 OTTHUMP00000067400;OTTHUMP00000067401;OTTHUMP00000107731;OTTHUMP00000174371;hypothetical protein LOC56683;prostate cancer upregulated protein 1;uncharacterized protein C21orf59 protein-coding ENSG00000159079 1301 10756 VALIDATED 4140075 C21orf91-OT1 C21orf91 overlapping transcript 1 (non-protein coding) 21 q21.1 19149721 19164826 - 12036297 246312 ABBA01057126;AI003918;AI201304;AL109761;AMYH01012150;AW469557;AY063452;AY063453;BX088960;BX099338;CR745563;NR_038870;NR_038871 Hs.473425;Hs.624361 D21S2089E;NCRNA00285 APPROVED miscrna ENSG00000240770 16729 VALIDATED 1344304 C21orf81 chromosome 21 open reading frame 81 21 21 q11.2 14198678 14274636 - 15316090 15352765 - 6480464 12477932;12036297 391267 AF426257;AP001466;AP001634;BC036580;BC043199;BC063278;NR_027270 AAM53513;Q8NFU9 Hs.364456 MGC44241 pseudo 16413 VALIDATED 1346389 C22orf12 chromosome 22 open reading frame 12 66034 AB050770 14238 1347523 C21orf97 chromosome 21 open reading frame 97 AK024977 16624 1342876 C21orf69 chromosome 21 open reading frame 69 21 q22.3 45177157 45179316 - 16780588;15489334;12477932;11707072 84537 AL844908;AY035381;BC101235;BC101236;BC101237;BC101238;NM_058189 AAI01236;AAI01237;AAI01238;AAI01239;AAK60445;NP_478069;P58556;Q495D5 Hs.534504 MGC120186;MGC120187;MGC120189;PRED54 protein-coding 15709 10763 1602005 C22orf24 chromosome 22 open reading frame 24 22 22 22 q12.1-q12.3 16129958 16141784 - 30659507 30671336 - 32329507 32341336 - 10591208 25775 B7Z221;Q9Y442 ABBA01055356;ABBA01055357;AJ704765;AJ704766;AK294232;AK315264;AL050256;AMYH01012724;CH471095;NM_015372;Z82248 BAG37681;BAH11707;CAB43358;CAG28925;CAG28926;EAW60000;NP_056187;Q9Y442 Hs.627602 1807346;1814548;1823110;1825826;1827864;1828968;1830182;1830980;1831256;1831864;1832560;1838578;1840864;1842456;1844852;2009840;2009842;2009844;2009846;2009848;2009850;2009852;2009854;2009856;2009858;2009860;2009862;2009864;2009866;2009868;2009870;2009872;2009874;2009876;2009878;2009880;2009882;2009884;2009886;2009888;2009890;2009892;2009894;2009896;2009898;2009900;2009902;2009904;2009906;2009908;2009910;2009912;2009914;2009916;2009918;2009920;2009922;2009924;2009926;2009928;2009930;2009932;2009934;2009936;2009938;2009940;2009942;2009944;2009946;2009948;2009950;2009952;2009954;2009956;2098064;2098066;2098068;2098070;2098072;2098074;2098076;2098078;2098080;2098082 ECD04644;ECD08304;ECD12643;ECD14021;ECD15055;ECD15611;ECD16224;ECD16626;ECD16764;ECD17070;ECD17420;ECD20463;ECD21625;ECD22431;ECD23642;REN75841;REN75842;REN75843;REN75844;REN75845;REN75846;REN75847;REN75848;REN75849;REN75850;REN75851;REN75852;REN75853;REN75854;REN75855;REN75856;REN75857;REN75858;REN75859;REN75860;REN75861;REN75862;REN75863;REN75864;REN75865;REN75866;REN75867;REN75868;REN75869;REN75870;REN75871;REN75872;REN75873;REN75874;REN75875;REN75876;REN75877;REN75878;REN75879;REN75880;REN75881;REN75882;REN75883;REN75884;REN75885;REN75886;REN75887;REN75888;REN75889;REN75890;REN75891;REN75892;REN75893;REN75894;REN75895;REN75896;REN75897;REN75898;REN75899;stSG602406;stSG602407;stSG602408;stSG602409;stSG602410;stSG602411;stSG602412;stSG602413;stSG602414;stSG602416 HSN44A4A OTTHUMP00000028906;hypothetical protein LOC25775;uncharacterized protein C22orf24 protein-coding ENSG00000128254 23051 PREDICTED 1351457 C21orf67 chromosome 21 open reading frame 67 21 21 21 q22.3 31459702 31466331 - 45179076 45184010 - 46353199 46359828 - 6480464 16780588;15489334;12477932;11707072;8889548 84536 P58512 ABBA01074179;AF380178;AL844908;AMYH01012301;AY035381;AY040088;BC101235;BC101236;BC101237;BC101238;BC128244;BC128245;BI829356;BI907880;BM674075;CH471079;NR_027128;NR_027129 AAK60445;AAK74136;AAL34496;EAX09373;EAX09375;P58512 Hs.534504 5493543 UniSTS:487137 C21orf69;MGC120186;MGC120187;MGC120188;MGC120189;MGC149386;MGC149387;PRED54 miscrna ENSG00000183250 15707 10762 VALIDATED 1602476 C22orf26 chromosome 22 open reading frame 26 22 22 22 q13.31 30353970 30357655 - 44825003 44828688 - 46446339 46450024 - 6480464 16344560;14702039 55267 Q9NV39 ABBA01010435;AK001807;AK096201;AL121672;AMYH01012852;AU134173;CH471138;NM_018280 AAI52897;AAI56804;BAA91920;EAW73396;EAW73397;NP_060750;Q9NV39 Hs.567529 5037552 D8S2279 FLJ10945 OTTHUMP00000197301;putative uncharacterized protein C22orf26 protein-coding 25606 07717 VALIDATED 1343351 C21orf88 chromosome 21 open reading frame 88 21 21 21 q22.2 26166505 26182180 - 39890944 39906621 - 40969074 40984749 - 6480464 16344560;15489334;12477932;12036297;11181995;20494980 114041 K4DI91;P59052 ABBA01009332;AF064860;AF426266;AF426267;AK129590;AMYH01012252;BC062296;BC080530;BC119737;BC119738;BG751912;CH471079;DA218783;NR_026542;NR_026543 AAM53522;AAM53523;BAC85189;EAX09633;EAX09634;EAX09635;EAX09636;P59052 Hs.375120 1730867;2168889 D21S1983;D21S397 FLJ26079 miscrna ENSG00000184809 16424 09847 VALIDATED 1347547 C21orf90 chromosome 21 open reading frame 90 21 21 21 q22.3 31044774 31046536 + 44761526 44763067 + 45937098 45938860 + 16344560;15489334;12477932;12036297 114043 P59090 ABBA01074169;AF426269;AF426270;AMYH01012296;AP001066;BC016690;BC064517;BC101650;BC101654;CH471079;DA908807;NR_026547;NR_026548 AAM53525;AAM53526;EAX09421;P59090 Hs.592163 2148922;5113175;5493209 RH75464;SHGC-87699;UniSTS:485313 MGC126699;MGC126703 miscrna 16428 10775 VALIDATED 1352771 C21orf91 chromosome 21 open reading frame 91 21 21 21 q21.1 4339748 4370167 - 18083155 18113574 - 19161284 19191703 - 6480464 16344560;16189514;14702039;12815627;12477932;9828130;8125298;20360068;22039568;18624398 54149 E7ETB0;Q68DA1;Q9NYK6 ABBA01057126;AF239726;AJ227876;AK023825;AK225123;AK314471;AL109761;AMYH01012150;BC015468;BF739854;CH471079;CR457317;CR749496;DA215855;DB066982;NM_001100420;NM_001100421;NM_017447 AAF44695;AAH15468;BAB14691;BAG37077;CAG33598;CAH18319;EAX10020;EAX10021;EAX10022;NP_001093890;NP_001093891;NP_059143;Q9NYK6 Hs.293811 1652901;1673269;1679271;1698574;1730716;1730843;1730845 D21S362;D21S384;D21S385;D5S2606;D7S2890;RH102839;RH36095 C21orf14;C21orf38;CSSG1;DKFZp781D1223;EURL;YG81 OTTHUMP00000083236;OTTHUMP00000083237;OTTHUMP00000083238;OTTHUMP00000083239;cold sore susceptibility gene 1;early undifferentiated retina and lens;protein EURL homolog protein-coding ENSG00000154642 16459 10776 VALIDATED 1606220 C22orf29 chromosome 22 open reading frame 29 22 22 22 q11.21 3685729 3694440 - 18213661 18222371 - 19833661 19842371 - 6480464 12477932;8125298;18029348;16344560 79680 C9J0V4;Q7L3V2 ABBA01005404;AC000076;AK024778;AK026924;AK225088;AK291262;AL832509;AMYH01012482;BC008696;BC011679;BX640785;BX640969;BX640998;CH471176;DA182195;DA757523;NM_024627 AAH11679;BAB14998;BAF83951;CAE45875;CAE45984;CAE46001;EAX03018;EAX03019;NP_078903;Q7L3V2 Hs.105642 1671460;1699616;1774071;2129696;2154583;2159289;5020988;5022322 D11S2560;D22S958;RH103410;RH46328;SHGC-56622;STS-AA041293;STS-T79756;WI-15274 BOP;FLJ21125 BH3-only protein;OTTHUMP00000196851;OTTHUMP00000196852;OTTHUMP00000196853;OTTHUMP00000197843;hypothetical protein LOC79680;protein Bop;uncharacterized protein C22orf29 protein-coding ENSG00000215012 26112 13382 VALIDATED 1349066 C22orf15 chromosome 22 open reading frame 15 22 22 22 q11.23 7944301 7947143 + 22435208 22438047 + 24105208 24108050 + 6480464 16344560;15461802;14702039;12477932;10591208;8889548 150248 F8W7S3;Q8WYQ4 AB050773;ABBA01055120;AK093880;AMYH01012647;AP000348;AP000349;BC113450;BC113452;BU584544;BU739625;CH471095;CR456371;DB200363;NM_182520 AAI13451;AAI13453;BAB83035;CAG30257;CAK54507;CAK54806;EAW59599;EAW59600;EAW59601;NP_872326;Q8WYQ4 Hs.116254 2220680 UniSTS:492208 FLJ36561;N27C7-3 OTTHUMP00000198419;OTTHUMP00000198420;hypothetical protein LOC150248;protein N27C7-3;uncharacterized protein C22orf15 protein-coding ENSG00000169314 15558 08778 VALIDATED 2303885 C22orf34 chromosome 22 open reading frame 34 22 22 22 q13.33 33934897 33972840 - 48400123 48437082 - 50013290 50051190 - 12477932 348645 A6ZJ96;C9JIL5;F2Z342;F2Z3N5;H7C0R5;Q6ZV56 ABBA01031331;ABBA01031332;AK124962;AK126430;AMYH01012883;BC048207;BC118575;BM051939;NR_026997;Z82189;Z97192 BAC86548;Q6ZV56 Hs.133159 1693530;1714195 RH119708;SHGC-58440 miscrna 28010 14180 PREDICTED 1351784 C22orf23 chromosome 22 open reading frame 23 22 22 22 q13.1 22141251 22151322 - 36669479 36679551 - 38339057 38349676 - 15489334;15461802;14702039;12477932;11237012;15342556;16344560 84645 B0QYM1;B0QYM2;Q9BZE7 ABBA01055494;ABBA01055495;AF324466;AK057349;AL031587;AMYH01012758;BC031998;BI463610;BI827388;BP368870;CH471095;CR456440;DA968042;NM_001207062;NM_032561 AAH31998;AAK07640;BAB71442;CAG30326;CAK54469;CAK54768;EAW60200;EAW60201;NP_001193991;NP_115950;Q9BZE7 Hs.517612 1676152;1684012;1699222;1770756;2180525;2185135 RH103192;RH46410;RH68010;RH92562;RH93282;SHGC-57930 EVG1;FLJ32787;dJ1039K5.6 OTTHUMP00000198218;OTTHUMP00000198219;OTTHUMP00000198220;OTTHUMP00000198221;OTTHUMP00000199345;UPF0193 protein EVG1;hypothetical protein LOC84645 protein-coding 18589 12799 VALIDATED 1604988 C22orf42 chromosome 22 open reading frame 42 22 22 22 q12.3 16345977 16355751 - 30875519 30885243 - 32545519 32555243 - 6480464 15461802;12477932 150297 Q6IC83 ABBA01055365;AL008723;AMYH01012727;BC040263;CH471095;CR456485;NM_001010859;Z83839 AAI39846;CAG30371;EAW60007;EAW60008;NP_001010859;Q6IC83 Hs.426551 1799346;1802284;1803558;1803560;1806582;1819172;1824484;1824628;1826498;1831202;1845974;2011630;2011632;2011634;2011636;2011638;2011640;2011642;2011644;2011646;2011648;2011650;2011652;2011654;2011656;2011658;2011660;2011662;2011664;2011666;2011668;2011670;2011672;2011674;2011676;2011678;2011680;2011682;2011684;2011686;2011688;2011690;2011692;2011694;2011696;2011698;2011700;2011702;2011704;2011706;2098350;2098352;2098354;2098356;2098358;2098360;2098362;5112884;5121975 ECD00522;ECD02026;ECD02680;ECD02681;ECD04248;ECD10653;ECD13340;ECD13412;ECD14363;ECD16737;ECD20124;ECD24207;REN76741;REN76742;REN76743;REN76744;REN76745;REN76746;REN76747;REN76748;REN76749;REN76750;REN76751;REN76752;REN76753;REN76754;REN76755;REN76756;REN76757;REN76758;REN76759;REN76760;REN76761;REN76762;REN76763;REN76764;REN76765;REN76766;REN76767;REN76768;REN76769;REN76770;REN76771;REN76772;REN76773;REN76774;REN76775;REN76777;REN76778;REN76779;REN76780;REN76781;stSG602559;stSG602560;stSG602561;stSG602563;stSG602564;stSG602565;stSG602566 RP1-127L4.6;dJ90G24.6 OTTHUMP00000028678;chromosome 22 open reading frame 42;uncharacterized protein C22orf42 protein-coding 27160 14087 PROVISIONAL 1606462 C22orf39 chromosome 22 open reading frame 39 22 22 22 q11.21 3280666 3288012 - 17810894 17815220 - 19428409 19435755 - 12477932;15461802;14702039;21666788;21900206 128977 E0CX16;Q6P5X5 ABBA01005411;AC000068;AI379685;AK095271;AK290073;AMYH01012479;BC030758;BC046204;BC062599;BX337505;BX648073;CH471176;CR456339;NM_001166242;NM_173793 AAH62599;BAF82762;CAG30225;EAX03039;EAX03040;EAX03041;NP_001159714;NP_776154;Q6P5X5 Hs.659565 1854773;2112500;2128841;5015959;5022651 D10S2448;D11S2921;D22S1665;RH48037;RH65762 DKFZp686I08210;MGC74441 OTTHUMP00000196398;OTTHUMP00000196399;UPF0545 protein C22orf39;hypothetical protein LOC128977 protein-coding ENSG00000242259 27012 14041 VALIDATED 1606712 C2CD4A C2 calcium-dependent domain containing 4A 15 15 15 q22.2 39248417 39252360 + 60146468 60150408 + 62359176 62363116 + 6480464 16341674;15527968;20818381;21799836;21873549;20881960 145741 Q8NCU7 ABBA01038928;AC104590;AF504646;AMYH01006696;AMYH01006697;BF196228;BM742013;BX648578;CH471082;NM_207322 AAI72259;AAM28197;EAW77609;NP_997205;Q8NCU7 Hs.202656 DKFZp686O2263;FAM148A;NLF1 C2 calcium-dependent domain-containing protein 4A;family with sequence similarity 148, member A;nuclear localized factor 1;nuclear-localized factor 1 APPROVED protein-coding ENSG00000198535 33627 14830 610343 VALIDATED 1604374 C22orf31 chromosome 22 open reading frame 31 22 22 22 q12.1 13254591 13257838 - 27784660 27787907 - 29454660 29457907 - 12477932;18029348;15489334;15461802;12529303;10591208;20379614 25770 O95567 ABBA01055254;AL021393;AL035364;AMYH01012694;BC074758;BC126262;BC126264;CH471095;CR456405;NM_015370 AAH74758;AAI26263;AAI26265;ABZ92316;ADR82916;ADR82921;CAA23017;CAG30291;EAW59772;NP_056185;O95567 Hs.50891 1684712;1747413;1747415;2166916;2219144 G65433;G65434;HS747E2A__6596;RH98220;SHGC-37725 HS747E2A;bK747E2.1 OTTHUMP00000198941;hypothetical protein LOC25770;uncharacterized protein C22orf31 protein-coding ENSG00000100249 26931 11031 PREDICTED 1604924 C2CD4B C2 calcium-dependent domain containing 4B 15 15 15 q22.2 39344987 39346711 - 60243029 60244774 - 62455737 62457482 - 6480464 16344560;15527968;8889548;20571754;20818381;20081858;20185807;20419449;20862305;16341674;21799836;21873549;18029348;22885067 388125 A6NLJ0 ABBA01038928;AC126323;AMYH01006697;AW292865;BM023530;BM127548;BM850957;BM974537;BQ101161;BX109954;DA584890;NM_001007595 A6NLJ0;AAI72378;NP_001007596 Hs.144372 FAM148B;NLF2 C2 calcium-dependent domain-containing protein 4B;family with sequence similarity 148, member B;nuclear localized factor 2;nuclear-localized factor 2 APPROVED protein-coding ENSG00000205502 33628 17636 610344 VALIDATED 1351171 C2CD4C C2 calcium-dependent domain containing 4C 19 19 19 p13.3 405821 409548 + 356443 364234 - 405443 409170 - 6480464 11853319;15527968;23251661 126567 Q8TF44 AB075837;ABBA01002560;AC008988;AL834341;AMYH01009182;CH471242;NM_001136263 BAB85543;CAD39008;EAW61198;EAW61199;EAW61200;NP_001129735;Q8TF44 Hs.223770 2180228 WI-14847 FAM148C;KIAA1957;NLF3 C2 calcium-dependent domain-containing protein 4C;family with sequence similarity 148, member C;nuclear localized factor 3;nuclear-localized factor 3 APPROVED protein-coding ENSG00000183186 29417 610336 VALIDATED 1321089 C2CD2L C2CD2-like 11 11 11 q23.3 116135506 116145233 + 118483303 118493037 + 118978093 118987827 + 737633;1580863;6480464 12477932 9179496;17081983;16368544;15489334;15289880;12168954;21139048 9854 E9PK05;O14523 AB006623;AB094094;ABBA01039679;AK025223;AMYH01004080;AP003391;BC003598;BC010071;BC021254;BC022219;BC033083;BC040131;BC052246;BC075832;BX537572;CH471065;NM_014807 AAH03598;AAH10071;AAH21254;AAH22219;AAH33083;AAH52246;AAH75832;BAA22954;BAC76048;EAW67456;EAW67457;EAW67458;EAW67459;NP_055622;O14523 Hs.26899 1731477;1737757;1850503;2109977;5015404 D11S3352;D11S368;L17705;RH15998;TMEM24_9007 DLNB23;KIAA0285;TMEM24 C2 domain-containing protein 2-like;OTTHUMP00000232079;OTTHUMP00000232080;transmembrane protein 24 APPROVED protein-coding 29000 15533 VALIDATED 1606236 C22orf46 chromosome 22 open reading frame 46 22 22 22 q13.2 25892983 25900572 + 40416497 40424086 + 42086547 42094140 + 6480464 15231748;14702039;12477932;21832049 79640 C9J442;Q9H5C5 ABBA01055651;AK027237;AK095008;AK131457;AMYH01012804;BC007210;BC035403;CH471095;NM_001142964;Z83840 AAH07210;BAB15702;BAD18602;C9J442;EAW60455;EAW60457;NP_001136436 Hs.517653 1681004 RH74961 FLJ23584 CTA-216E10.6;OTTHUMP00000199327;putative uncharacterized protein C22orf46;uncharacterized protein C22orf46 APPROVED protein-coding ENSG00000184208 26294 08037 VALIDATED 1351796 C2CD2 C2 calcium-dependent domain containing 2 21 21 21 q22.3 28452727 28521539 - 42178288 42247068 - 43305219 43373999 - 6480464 16780588;15289880;12477932;10830953;20494980;21139048;19322201 25966 H7BZB0;Q9Y426 AB047784;AB047785;ABBA01014181;AI143200;AI298951;AK125120;AK128550;AK129520;AL050173;AL833323;AMYH01012265;AP001619;AP001745;BC020927;BC035070;BC062323;CH471079;CR627455;NM_015500;NM_199050;R13033 AAH62323;BAA95528;BAC85176;BAD74068;BAD74069;BAG54149;BAG54693;CAB43307;CAH10536;EAX09582;EAX09583;NP_056315;NP_950251;Q9Y426 Hs.473894;Hs.675058 1663454;1689963;1696920;1723063;1735034;2122441;2165608;2185052;2185641;5015961;5105797 D15S1477;D21S1728E;D21S1863;D5S2584;G34529;RH101928;RH121883;RH45596;RH79573;SHGC-147283;WI-20893 C21orf25;C21orf258;DKFZp586F0422;DKFZp686O198;MGC71445;TMEM24L C2 domain-containing protein 2;OTTHUMP00000109276;OTTHUMP00000204005;TMEM24 related geme;TMEM24-like protein-coding ENSG00000157617 1266 10745 VALIDATED 1602719 C22orf43 chromosome 22 open reading frame 43 22 22 22 q11.2 7789807 7813597 - 22280639 22304487 - 23950639 23974508 - 15461802;12477932;11230166;20237496;16344560 51233 Q6PGQ1 ABBA01055117;AK310349;AL080197;AMYH01012646;AP000346;BC056888;BC063390;CH471095;CR456370;DB052993;NM_016449 AAH56888;ACE86987;ACE87676;CAB75693;CAG30256;EAW59585;EAW59586;EAW59587;NP_057533;Q6PGQ1 Hs.517466 1682952;1700778;1784518 RH104014;RH91977;SHGC-170339 MGC33025;MGC75009 OTTHUMP00000198312;putative uncharacterized protein C22orf43;uncharacterized protein C22orf43 protein-coding ENSG00000189269 28031 17422 VALIDATED 3563711 C2CD4D C2 calcium-dependent domain containing 4D 1 1 q21.3 124925032 124927726 - 151810339 151813033 - 6480464 12477932 100191040 B7Z1M9 ABBA01049405;AK293673;AL589765;AMYH01001395;BC157847;BC171843;DC305608;NM_001136003 AAI57848;AAI71843;B7Z1M9;BAH11565;NP_001129475 Hs.694717 2179324 RH48909 FAM148D;MGC189742 C2 calcium-dependent domain-containing protein 4D;OTTHUMP00000235505;family with sequence similarity 148, member D protein-coding ENSG00000225556 37210 VALIDATED 1607065 C2CD3 C2 calcium-dependent domain containing 3 11 11 11 q13.4 71052284 71188859 - 73423128 73559712 - 73745480 73882064 - 6480464 16344560;14702039;12477932;21139048;21906983 26005 F5H0U2;H0YFM6;H0YG44;H7BZB4;H7C288;Q8NDH7 AB231763;AB231764;ABBA01017494;ABBA01017495;ABBA01017496;ABBA01017497;AK091397;AK092089;AK125894;AL080220;AL833903;AMYH01003812;AP002392;AP003717;BC035599;BC110508;BM460060;CD369754;DB068715;DB078025;NM_015531 AAH35599;AAI10509;BAC03654;BAC03802;BAC86334;BAE17137;BAE46898;CAB45779;CAD38759;NP_056346;Q4AC94 Hs.557938;Hs.694798 1665606;1686538;1724119;1735096;1737987;2148653;2176309;2180121;5126134 A008X42;D11S3588;D11S944E;D3S2776E;RH119059;RH26881;RH36451;RH66358;WI-18676 DKFZp586P0123;FLJ34770 C2 domain-containing protein 3;OTTHUMP00000237955 protein-coding ENSG00000168014 24564 16811 VALIDATED 1347260 C2orf20 chromosome 2 open reading frame 20 394262 BC009491 31020 1349564 C2orf19 chromosome 2 open reading frame 19 2 q37.3 238726269 238729374 - 12477932 394261 Q8NEE0 AC016757;BC031945;CH471063;NM_001024676 AAH31945;AAY24334;EAW71142;NP_001019847;Q8NEE0 protein-coding 31018 18620 3051032 C2orf27AP1 chromosome 2 open reading frame 27A pseudogene 1 Y 13241152 13241737 - 100420811 ABBA01013637;AC140113;NG_021911 pseudo 38413 INFERRED 1344280 C2orf31 chromosome 2 open reading frame 31 737633 12477932 11230166 81561 AL136852 25264 1352942 C2orf16 chromosome 2 open reading frame 16 2 2 2 p23.3 27644817 27651017 + 27652893 27659093 + 27799389 27805589 + 17081983;15815621;12477932;11230166;20705733;21386085;23505323;22001757;23362303 84226 Q68DN1 ABBA01045211;AC074091;AL136898;AL834384;AMYH01010198;BC115376;BC115377;BC140828;CH471053;CR749335;NM_032266 AAI15377;AAI40829;AAX93198;CAB66832;CAD39047;CAH18189;EAX00566;NP_115642;Q68DN1 Hs.131021 DKFZp434G118;DKFZp781D2023 OTTHUMP00000214070;hypothetical protein LOC84226;uncharacterized protein C2orf16 protein-coding ENSG00000221843 25275 09849 VALIDATED 1354289 C2orf12 chromosome 2 open reading frame 12 q24.3 15815621;15489334;12477932 192137 Q8TDM3 AC092153;AL117617;BC065192;BC069687;BC069706;BC069763;BC080620;XM_938663;XM_944033 AAH65192;AAH69687;AAH69706;AAH69763;AAH80620;AAX93094;Q8TDM3;XP_943756;XP_949126 Hs.470412 DKFZp564H0764;HCC-4 protein-coding 24242 1349020 C2orf15 chromosome 2 open reading frame 15 2 2 2 q11.2 93962876 93972638 + 99124617 99134382 + 99758185 99767950 + 6480464 15815621;15489334;12477932;21926972 150590 Q8WU43 ABBA01073951;ABBA01073952;AC092587;AK314133;AMYH01010804;BC021264;CH471127;NM_144706 AAH21264;AAX88926;ABM83537;ABM86777;BAG36823;EAX01893;NP_653307;Q8WU43 Hs.352211 FLJ44438;MGC29762 OTTHUMP00000161214;OTTHUMP00000203295;hypothetical protein LOC150590;uncharacterized protein C2orf15 protein-coding ENSG00000241962 28436 12806 PREDICTED 736134 C2CD5 C2 calcium-dependent domain containing 5 12 12 12 p12.1 27749342 27845274 - 22492784 22588719 - 22601517 22697452 - 6480464 17353931;17081983;15489334;15302935;12477932;9628581;22939629;21139048;19322201;21907143;21853274 9847 B4DRN7;F5H2A1;F5H3N1;F5H5R1;H0YFC4;H0YFE9;H0YGJ3;H0YGU7;Q86YS7 AB011100;ABBA01067986;AC053513;AK295862;AK299353;AK310753;AMYH01004325;AY166851;BC042498;BC053885;BC117143;BC143859;BC143860;BC143878;BX648560;CH471094;NM_014802 AAH42498;AAH53885;AAI17144;AAI43860;AAI43861;AAI43879;AAO17290;BAA25454;BAG58665;BAG61349;EAW96473;EAW96474;EAW96475;EAW96476;NP_055617;Q86YS7 Hs.271014 1678365;1680547 RH36754;RH76458 CDP138;DKFZp779N2044;KIAA0528 138 kDa C2 domain-containing phosphoprotein;C2 domain-containing phosphoprotein of 138 kDa;C2 domain-containing protein 5;OTTHUMP00000240092;OTTHUMP00000240093;OTTHUMP00000240094;OTTHUMP00000240095;OTTHUMP00000240096;OTTHUMP00000240097;hypothetical protein LOC9847;phosphatidylinositol glycan, class l;uncharacterized protein KIAA0528 APPROVED protein-coding ENSG00000111731 29062 11087 PROVISIONAL 1601786 C2orf27B chromosome 2 open reading frame 27B 2 2 q21 132269004 132275704 - 132552534 132559234 - 12477932;17207965 408029 Q580R0 ABBA01028227;AC103564;AMYH01011104;BC043584;NM_214461 AAH43584;AAY24065;ADQ33114;NP_999626 Hs.145567 2185223;5113679 RH11944;RH99290 MGC50273 OTTHUMP00000206272;hypothetical protein LOC408029;uncharacterized protein LOC408029 protein-coding ENSG00000186825 33824 14664 PREDICTED 1603029 C2orf42 chromosome 2 open reading frame 42 2 2 2 p13.3 70227826 70268958 - 70230521 70271655 - 70377017 70418151 - 6480464 12477932;22990118;23251661 54980 C9J4L7;C9J5U1;C9JJF4;C9JK51;C9JKD5;C9JS43;C9JV10;C9JZF3;Q9NWW7 ABBA01075526;ABBA01075527;ABBA01075528;ABBA01075529;AC016700;AK000565;AK026303;AL136834;AMYH01010425;BC002825;BC005079;CH471053;NM_017880 AAH02825;AAH05079;AAX93192;BAA91258;BAB15438;CAB66768;EAW99828;EAW99829;EAW99830;EAW99831;NP_060350;Q9NWW7 Hs.720049 FLJ20558 OTTHUMP00000160044;OTTHUMP00000203977;hypothetical protein LOC54980;uncharacterized protein C2orf42 protein-coding ENSG00000115998 26056 07927 PREDICTED 1353501 C2orf27A chromosome 2 open reading frame 27A 2 2 2 q21.2 126204833 126250421 + 132196534 132241449 + 132480064 132524977 + 6480464 15815621;15489334;12477932;9110174;8619474 29798 Q580R0 ABBA01028227;AC093724;AF038169;AI302788;AI418663;AMYH01011104;BC071972;BC093716;BC112189;CH471058;NM_013310 AAB97362;AAH93716;AAI12190;AAX82001;EAX11684;EAX11685;EAX11686;NP_037442;Q580R0 Hs.635289;Hs.655680 2185223;5113679 RH11944;RH99290 C2orf27;C2orf27B;MGC138394 OTTHUMP00000162444;hypothetical protein LOC29798;uncharacterized protein C2orf27 protein-coding ENSG00000197927 25077 12811 VALIDATED 1605056 C2orf43 chromosome 2 open reading frame 43 2 2 2 p24.1 20747203 20885172 - 20748299 20886308 - 20884818 21022827 - 6480464 12477932;20676098;20379614;17207965;21059979;20339536;22662242;21139048;21890473;21906983;17135363 60526 B4DRG3;B5MCE2;B5MCU4;B5MDU6;B7ZA47;B7ZAJ5;C9JHU6;C9JUM0;D3YTH1;Q9H6V9 ABBA01018472;ABBA01018473;AC012065;AC012361;AK025473;AK299244;AK299555;AK300494;AK301493;AK316162;AK316204;AK316310;AL137397;AMYH01010156;BC017473;CH471053;NM_021925 AAH17473;AAX93236;AAY14959;ADQ31891;BAB15142;BAG61275;BAG61500;BAG62208;BAG63004;BAH14533;BAH14575;BAH14681;EAX00806;EAX00807;EAX00808;EAX00809;EAX00810;NP_068744;Q9H6V9 Hs.187823 1659222;1674343;1687746;1776795;1790727;1790731;1850439;2144350;2171213;2178552;2182136 AFMa070za9;B293ZC9;RH44584;RH65141;RH66466;RH99120;SHGC-12237;SHGC-33648;STS-ETM1231;STS-ETM1240;WI-11147 FLJ21820 OTTHUMP00000151184;OTTHUMP00000151185;UPF0554 protein C2orf43;hypothetical protein LOC60526 protein-coding ENSG00000118961 26145 07113 613570 PREDICTED 1603606 C2orf40 chromosome 2 open reading frame 40 2 2 q12.2 106048545 106061040 + 106682113 106694611 + 6480464 22411956;22626786;18029348;19521989;17786363;17284679;15815621;15489334;12975309;12800218;12477932;20017917;21288367;20598162;22901147;22110708;21935431;21436262;22526622;23770814;22325214 84417 B8ZZE5;C9JRR0;Q9H1Z8 ABBA01073844;ABBA01073845;ABBA01073846;AC018878;AF325503;AMYH01010837;AY358601;BC021742;CH471127;CS072958;FB740500;NM_032411 AAG42321;AAH21742;AAQ88964;AAY15084;ABM83338;ABM86552;CAI93686;CAX20415;EAX01751;EAX01752;NP_115787;Q9H1Z8 Hs.43125 1663737 RH69278 ECRG4 OTTHUMP00000161527;OTTHUMP00000203230;OTTHUMP00000203231;augurin;esophageal cancer related gene 4 protein;esophageal cancer-related gene 4 protein protein-coding ENSG00000119147 24642 13261 611752 VALIDATED 1601962 C2orf44 chromosome 2 open reading frame 44 2 2 2 p23.3 24092585 24110627 - 24105747 24123727 - 24252206 24270296 - 12029088;17353931;16344560;12477932;16169070;19197348;19596235;18218781;16051665;20360068;21900206;22327622 80304 C9JYC1;Q9H6R7 ABBA01045100;ABBA01045101;AC104665;AF218013;AI800484;AK025598;AMYH01010164;BC035698;CH471053;CX756689;DB292134;NM_001142319;NM_025203 AAG17255;AAH35698;AAY24115;BAB15186;EAX00771;EAX00772;NP_001135791;NP_079479;Q9H6R7 Hs.24624 1681245;1682251;1694540;1770027;2168809 G43158;RH36907;RH79240;RH93548;STS-R16779 FLJ21945;PP384 OTTHUMP00000155153;OTTHUMP00000200748;WD repeat-containing protein C2orf44 protein-coding ENSG00000163026 26157 07972 VALIDATED 1603199 C2orf47 chromosome 2 open reading frame 47 2 2 2 q33.1 194574744 194583552 + 200528285 200537085 + 200820040 200828848 + 6480464 12477932;20877624;19176441;17207965;21832049;21139048;21890473;20360068 79568 H7C0V0;Q8WWC4 ABBA01062509;AC097717;AK026208;AL832964;AMYH01011397;BC017959;BQ448209;CH471063;NM_024520 AAH17959;AAY24163;ADQ32132;BAB15393;CAH56348;EAW70195;EAW70196;NP_078796;Q8WWC4 Hs.154494 2172917 RH78324 DKFZp666A212;FLJ22555 OTTHUMP00000163659;hypothetical protein LOC79568;uncharacterized protein C2orf47, mitochondrial protein-coding ENSG00000162972 26198 07994 VALIDATED 1604753 C2orf50 chromosome 2 open reading frame 50 2 2 2 p25.1 11188994 11202728 + 11190630 11203603 + 11273179 11286916 + 12477932;22779921;23319000 130813 Q96LR7 ABBA01015641;ABBA01015642;AC062028;AK057872;AK292828;AMYH01010110;BC120930;CH471053;NM_182500 AAI20931;BAB71603;BAF85517;EAX00943;EAX00944;NP_872306;Q96LR7 Hs.406894 FLJ25143;MGC149401 OTTHUMP00000147596;OTTHUMP00000200414;hypothetical protein LOC130813;uncharacterized protein C2orf50 protein-coding ENSG00000150873 26324 08051 VALIDATED 1602960 C2orf61 chromosome 2 open reading frame 61 2 2 2 p21 47152977 47221350 - 47209091 47235930 - 47314130 47382517 - 16344560;14702039;20339536;20379614 285051 H7C2Z2;H7C3W9;Q8N801 ABBA01075150;ABBA01075151;ABBA01075152;ABBA01075153;AC073283;AK097491;AMYH01010321;CH471053;DA313162;NM_001163561;NM_173649 AAI72329;AAY24084;BAC05075;EAX00224;EAX00225;NP_001157033;NP_775920;Q8N801 Hs.531575 FLJ40172 OTTHUMP00000159071;OTTHUMP00000203195;hypothetical protein LOC285051;uncharacterized protein C2orf61 protein-coding ENSG00000239605 26850 08273 VALIDATED 1606097 C2orf48 chromosome 2 open reading frame 48 2 2 2 p25.1 10197558 10267755 + 10198960 10269307 + 10281981 10350942 + 15489334;14702039;12477932 348738 Q96LS8 ABBA01015606;ABBA01015607;ABBA01015608;AC007240;AK057831;AMYH01010100;BC093999;BC094001;CH471053;NM_182626 AAH93999;AAH94001;BAB71592;EAX00967;NP_872432;Q96LS8 Hs.454981 1687882 RH92352 FLJ25102 OTTHUMP00000147547;hypothetical protein LOC348738;uncharacterized protein C2orf48 protein-coding 26322 08049 PREDICTED 1602815 C2orf53 chromosome 2 open reading frame 53 2 2 2 p23.3 27206021 27208638 - 27213219 27215836 - 27359715 27362332 - 16344560;12477932;17207965 339779 C9JVA3;Q53SZ7 AA812952;ABBA01045195;AC013403;AMYH01010194;BC045671;BX118458;CH471053;DB022743;DB052016;DB336367;HC007168;HC044575;NM_178553 AAH45671;AAX93171;ADQ32954;CBH19389;CBH30617;EAX00625;NP_848648;Q53SZ7 Hs.136555 2151281 D2S1748 MGC44505 OTTHUMP00000158509;hypothetical protein LOC339779;uncharacterized protein C2orf53 protein-coding ENSG00000186143 28677 14633 VALIDATED 1606945 C2orf57 chromosome 2 open reading frame 57 2 2 2 q37.1 226233973 226235392 + 232165856 232167238 + 232457575 232458994 + 12477932;20379614;21832049 165100 Q53QW1 ABBA01002055;AC104634;AMYH01011559;BC034405;BC063389;CH471063;NM_152614 AAH34405;AAH63389;AAY24071;ABM82214;ABM85398;EAW70967;NP_689827;Q53QW1 Hs.98104 1685782 RH92133 MGC35154 OTTHUMP00000164298;hypothetical protein LOC165100;uncharacterized protein C2orf57 protein-coding ENSG00000177673 28563 14602 VALIDATED 1605342 C2orf54 chromosome 2 open reading frame 54 2 2 2 q37.3 235498112 235508356 - 241474138 241484246 - 241825465 241835573 - 6480464 14702039;12477932 79919 C9JEK0;C9JP86;H7BXM3;Q08AI8 ABBA01006034;AC104809;AK026324;AK055735;AK056601;AK096434;AMYH01011626;BC125154;BC125155;CH471063;NM_001085437;NM_024861 AAI25155;AAI25156;AAY24169;BAB15445;BAG51761;BAG53291;EAW71218;EAW71219;EAW71220;NP_001078906;NP_079137;Q08AI8 Hs.193745 1763313;1773572;1779414 RH64976;SHGC-147042;SHGC-153404 FLJ22671;MGC150431;MGC150432 OTTHUMP00000200750;OTTHUMP00000200751;OTTHUMP00000200752;hypothetical protein LOC79919;uncharacterized protein C2orf54 protein-coding ENSG00000172478 26216 08003 VALIDATED 1604297 C2orf49 chromosome 2 open reading frame 49 2 2 2 q12.1 100154460 100162431 + 105320445 105328416 + 105954013 105961984 + 6480464 17081983;15815621;15489334;12477932;22990118;21832049;22939629;22174317;22944692 79074 B4E2G9;C9J4K0;Q9BVC5 ABBA01073858;AC012360;AK127661;AK304268;AK307891;AMYH01010834;BC001310;CH471127;NM_024093 AAH01310;AAY15011;ABM82138;ABM85321;BAG54545;BAG65131;EAX01763;NP_076998;Q9BVC5 Hs.549577 1689773;5022322;5037552 D11S2560;D8S2279;RH26023 FLJ45759;MGC5509;asw OTTHUMP00000161377;OTTHUMP00000203145;ashwin protein-coding 28772 14688 PROVISIONAL 2298820 C2orf70 chromosome 2 open reading frame 70 2 2 2 p23.3 26629117 26646026 + 26638985 26655899 + 26785481 26802395 + 14702039 339778 A6NJV1;B8ZZ55;H7C0N2 ABBA01045184;AC015977;AC108070;AK091483;AMYH01010192;CH471053;NM_001105519 A6NJV1;EAX00681;NP_001098989 Hs.407083 1676618 RH99278 OTTHUMP00000203783;OTTHUMP00000214053;UPF0573 protein C2orf70;hypothetical protein LOC339778 protein-coding ENSG00000173557 27938 PREDICTED 2298740 C2orf72 chromosome 2 open reading frame 72 2 2 2 q37.1 225677793 225689941 + 231605230 231623304 + 231902281 231914429 + 6480464 16344560;15815621;11752456;9110174;8619474 257407 A6NCS6 ABBA01002064;ABBA01002065;ABBA01002066;AC009407;AF007149;AF070612;AF086098;AMYH01011554;AMYH01011555;AV658788;DA141613;DB303203;NM_001144994 A6NCS6;NP_001138466 Hs.526596;Hs.551993 1645816;1850415;2147917;2167650;5022578 A007A45;D1S1423;RH16222;RH67878;SHGC-34388 OTTHUMP00000204821;hypothetical protein LOC257407;uncharacterized protein C2orf72 protein-coding ENSG00000204128 27418 VALIDATED 2298744 C2orf71 chromosome 2 open reading frame 71 The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010] 2 2 2 p23.2 29128955 29141525 - 29138062 29150631 - 29284556 29297127 - 6480464;7240710 14702039;21412943;20811058;20125088;20398884;20398886;8889548;20301590 388939 A6NGG8 ABBA01045243;AC105398;AK092250;AMYH01010208;BM669582;CH471053;NG_021427;NM_001029883 A6NGG8;EAX00517;NP_001025054 Hs.354243 FLJ34931 OTTHUMP00000201019;chromosome 2 open reading frame 71;uncharacterized protein C2orf71 APPROVED protein-coding ENSG00000179270 34383 613425;613428 REVIEWED 1602399 C2orf66 chromosome 2 open reading frame 66 2 2 2 q33.1 191425877 191430868 - 197378254 197383245 - 197669139 197675000 - 12975309;12477932 401027 Q6UXQ4 ABBA01062462;AC012486;AMYH01011385;AW768745;AY358249;BC137150;BC137151;CH471063;NM_213608 AAI37151;AAI37152;AAQ88616;EAW70135;NP_998773;Q6UXQ4 Hs.245666;Hs.372069 UNQ6411 OTTHUMP00000163620;hypothetical protein LOC401027;uncharacterized protein C2orf66 protein-coding 33809 13734 VALIDATED 2298835 C2orf78 chromosome 2 open reading frame 78 2 2 2 p13.1 73862173 73875539 + 73864824 73897782 + 74011316 74044274 + 388960 A6NCI8 ABBA01075585;ABBA01075586;ABBA01075587;AC092653;AC136006;AK125975;AMYH01010440;AMYH01010441;AMYH01010442;AMYH01010443;AMYH01010444;AMYH01010445;AMYH01010446;AMYH01010447;NM_001080474 A6NCI8;NP_001073943 Hs.456833 COG5373;FLJ43987;hCG1989538 OTTHUMP00000202508;hypothetical protein LOC388960;uncharacterized protein C2orf78 protein-coding ENSG00000187833 34349 PREDICTED 1602043 C2orf62 chromosome 2 open reading frame 62 2 2 2 q35 212988189 212999428 + 218929823 218941061 + 219221579 219232817 + 12477932;17207965;21832049 375307 Q7Z7H3 ABBA01023871;AC021016;AMYH01011494;BC052750;CH471063;NM_198559 AAH52750;ADQ33106;EAW70610;NP_940961;Q7Z7H3 Hs.645453 MGC50811 OTTHUMP00000164138;hypothetical protein LOC375307;uncharacterized protein C2orf62 protein-coding ENSG00000158428 25062 11846 PREDICTED 2298834 C2orf81 chromosome 2 open reading frame 81 2 2 2 p13.1 74472492 74476033 - 74488432 74498442 - 74641303 74644844 - 15815621 388963 A6NN90;E5RID8;E5RIL7;E5RIT9;E5RJQ4;G3XAA6 ABBA01075600;AC005041;AMYH01010454;BM045416;BX102034;CH471053;NM_001145054 A6NN90;EAW99682;EAW99683;NP_001138526 Hs.445377 1693472 SHGC-57623 hCG40743 OTTHUMP00000226132;Uncharacterized protein ENSP00000290390;hypothetical protein LOC388963;uncharacterized protein C2orf81 protein-coding ENSG00000159239 34350 PREDICTED 1606379 C2orf68 chromosome 2 open reading frame 68 2 2 2 p11.2 85660660 85667462 - 85687288 85692663 - 85832376 85839179 - 6480464 15146197;14702039;12477932;21874238;19322201 388969 F6S878;H7C1Q5;L7T9J5;Q2NKX9 ABBA01075761;AC012454;AC016753;AK024174;AK092972;AK124808;AK300003;AK311297;AMYH01010496;BC057834;BC111483;BU619982;CH471053;CN303296;JX960761;NM_001013649 AAI11484;AGC31581;BAC85956;BAG61822;EAW99495;NP_001013671;Q2NKX9 Hs.516159 1675078;2148268;5014051;5015619;5016596;5020274;5021872;5022200;5022450;5022578;5022651;5037552;5037554 D10S275;D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;D8S2282;GDB:631802;L18426;L18441;SHGC-32166;WI-17158;sY3084 FLJ14112;FLJ35653;HCRCN81;MGC131675 OTTHUMP00000203084;UPF0561 protein C2orf68;hypothetical protein LOC388969 protein-coding 34353 18391 VALIDATED 1603539 C2orf69 chromosome 2 open reading frame 69 2 2 2 q33.1 194531108 194547696 + 200484274 200501241 + 200775979 200792996 + 6480464 16344560;14702039;12477932;17207965 205327 Q8N8R5 ABBA01062508;AC097717;AK096292;AMYH01011395;AMYH01011396;AMYH01011397;BC036456;CH471063;DA773166;NM_153689 AAH36456;AAY24161;ADQ31601;BAC04749;EAW70190;NP_710156;Q8N8R5 Hs.471040 1658121;1734736;2129723;2185435 D2S1523E;RH45770;RH69327;SHGC-31000 FLJ38973 OTTHUMP00000205792;UPF0565 protein C2orf69;hypothetical protein LOC205327 protein-coding ENSG00000178074 26799 08797 VALIDATED 2298736 C2orf74 chromosome 2 open reading frame 74 2 2 2 p15 61215846 61236014 + 61225792 61245468 + 61372243 61391964 + 6480464 12477932;21102463;22412388;21988832;23128233 339804 A8MZ97;C9JBF1 ABBA01075346;ABBA01075347;AC016747;AMYH01010379;BC014578;NM_001143959;NM_001143960 A8MZ97;NP_001137431;NP_001137432 Hs.140617 hypothetical protein LOC339804;uncharacterized protein C2orf74 protein-coding ENSG00000237651 34439 VALIDATED 5688543 C2orf91 chromosome 2 open reading frame 91 2 p21 42162508 42180943 - 400950 Q6ZV80 ABBA01075055;AC013480;AC104654;AK124893;AMYH01010280;NM_001242815 BAC85983;NP_001229744;Q6ZV80 Hs.738713 1758397 SHGC-148242 uncharacterized protein C2orf91;uncharacterized protein LOC400950 protein-coding ENSG00000205086 42966 VALIDATED 1603909 C2orf73 chromosome 2 open reading frame 73 2 2 2 p16.2 54398902 54427568 + 54411575 54442218 + 54558071 54588714 + 6480464 14702039;12477932;18654987 129852 B5MBY8;C9J598;E7ENW1;F8WD05;H7C1Z5;Q8N5S3 ABBA01075252;AC108929;AK097617;AMYH01010359;BC031669;BC126244;BC126246;BC144191;BC144192;CH471053;NM_001100396 AAH31669;AAI26245;AAI26247;AAI44192;AAI44193;BAC05122;EAX00149;EAX00150;EAX00151;NP_001093866;Q8N5S3 Hs.732626 1680294;1700410 RH103826;RH92103 FLJ40298 OTTHUMP00000200608;OTTHUMP00000200611;OTTHUMP00000201054;OTTHUMP00000213115;hypothetical protein LOC129852;uncharacterized protein C2orf73 protein-coding ENSG00000177994 26861 13446 VALIDATED 1606162 C2orf76 chromosome 2 open reading frame 76 2 2 2 q14.2 113386186 113450397 - 119776490 119840728 - 120060020 120124258 - 6480464 12477932;20205591;20379614;21890473 130355 C9JTA8;Q3KRA6 ABBA01045926;AC016736;AMYH01010987;BC047365;BC062434;BC105805;BC126395;BC126397;BC144012;BC144014;BC171737;CH471103;NM_001017927 AAH47365;AAI05806;AAI26396;AAI26398;AAI44013;AAI71737;ADR82800;EAW95213;NP_001017927;Q3KRA6 Hs.99488 1678093 RH48926 AIM29;MGC104437 OTTHUMP00000203619;OTTHUMP00000203620;OTTHUMP00000203621;OTTHUMP00000203622;UPF0538 protein C2orf76;hypothetical protein LOC130355 protein-coding ENSG00000186132 27017 18547 PREDICTED 1343619 C3CER1 chromosome 3 common eliminated region 1 9408748;10610706 23739 1320 2298832 C2orf80 chromosome 2 open reading frame 80 2 2 2 q34 202798308 202823009 - 208738316 208763018 - 209030071 209054773 - 22080834;12477932;20080650 389073 C9J2L1;C9J2S2;C9JAS9;C9JTX0;H7BZF5;H7C2Y3;Q0P641 ABBA01062701;ABBA01062702;ABBA01062703;ABBA01062704;AC016697;AMYH01011452;AW136505;BC035737;CH471063;DB541912;NM_001099334 AAH35737;EAW70436;NP_001092804;Q0P641 Hs.198416 OTTHUMP00000206606;OTTHUMP00000206607;OTTHUMP00000206674;hypothetical protein LOC389073;uncharacterized protein C2orf80 protein-coding ENSG00000188674 34352 VALIDATED 1606085 C2orf82 chromosome 2 open reading frame 82 2 2 2 q37.1 227499270 227505383 + 233443238 233449351 + 233734994 233741107 + 6480464 12975309;12477932;23453885 389084 C9K0N5;H7C356;Q6UX34 ABBA01002006;AC016692;AMYH01011571;AMYH01011572;AY358535;BC035093;BC049848;BC130307;BC130309;CH471063;NM_206895 AAI30308;AAI30310;AAQ88899;EAW71021;EAW71022;EAW71023;NP_996778;Q6UX34 Hs.657509 1690125;1715601 RH120944;RH94178 MGC163179;MGC163181;UNQ830 ASCL830;OTTHUMP00000164373;OTTHUMP00000203465;hypothetical protein LOC389084;uncharacterized protein C2orf82 protein-coding ENSG00000182600 33763 15620 PREDICTED 1604331 C2orf83 chromosome 2 open reading frame 83 2 2 2 q36.3 222244328 222267570 - 228183050 228206132 - 228474806 228498036 - 16381901;15489336;14702039;12477932;11230166;11076863;22610502 56918 Q53S99 ABBA01050181;AC064853;AK055355;AL359944;AMYH01011542;AMYH01011543;BC131618;CH471063;CR749679;NM_001162483;NM_020161 AAI31619;AAX93156;CAB95774;CAH18470;CAL38026;CAL38151;EAW70873;EAW70874;NP_001155955;NP_064546;Q53S99 Hs.283092 OTTHUMP00000204101;OTTHUMP00000204102;folate transporter-like protein C2orf83 protein-coding ENSG00000042304 25344 13208 VALIDATED 1347639 C3orf14 chromosome 3 open reading frame 14 3 3 3 p14.2 62322488 62336413 + 62280436 62294361 + 62305396 62319321 + 737633;6480464 12477932 15489334;10931946;17207965;20379614 57415 C9JY17;Q9HBI5 ABBA01024329;AC092502;AF236158;AK310431;AK313915;AMYH01013241;BC017772;CH471055;NM_020685 AAG09750;AAH17772;ADQ32108;BAG36637;EAW65400;EAW65401;EAW65402;NP_065736;Q9HBI5 Hs.47166 1660293;1779134 RH45851;SGC38115 HT021 OTTHUMP00000213295;OTTHUMP00000213296;OTTHUMP00000213297;OTTHUMP00000213298;hypothetical protein LOC57415;uncharacterized protein C3orf14 protein-coding ENSG00000114405 25024 12819 PREDICTED 1343802 C3orf18 chromosome 3 open reading frame 18 3 3 3 p21.3 50568268 50581264 - 50570466 50580186 - 50595456 50608458 - 737633;6480464 12477932 15489334;17207965;16344560;20205591 51161 C9IYC4;F8WCC4;Q9UK00 AA716515;AA908974;ABBA01024543;ABBA01024544;AC096920;AF188706;AK124438;AK130227;AK308074;AK309486;AK311093;AK313128;AL833938;AMYH01013175;BC034766;CH471055;DA504094;DA535127;DB027651;DB166816;NM_001171740;NM_001171741;NM_001171743;NM_016210 AAF01050;AAH34766;ADQ32861;BAC85307;BAG35948;BAG54038;CAD38793;EAW65122;EAW65123;EAW65124;NP_001165211;NP_001165212;NP_001165214;NP_057294;Q9UK00 Hs.517860 1735090;1852720;2130188;2139522;2143493 A003M37;D3S2773E;D3S2903E;G16541;RH15919 G20 OTTHUMP00000210812;OTTHUMP00000210813;OTTHUMP00000210815;OTTHUMP00000210817;OTTHUMP00000210818;hypothetical protein LOC51161;uncharacterized protein C3orf18 protein-coding ENSG00000088543 24837 16654 VALIDATED 1603406 C3orf27 chromosome 3 open reading frame 27 3 3 3 q21 126719455 126723541 - 129773533 129777619 - 128290843 128294929 - 15067727;9307271 23434 O15544 ABBA01020902;AC080005;AF008191;AF008192;AMYH01013464;CH471052;NM_007354 AAB65247;AAB65248;AAI40212;AAI46514;EAW79310;NP_031380;O15544 Hs.194283 2219100 GR6__6661 GR6 OTTHUMP00000216237;protein GR6;putative GR6 protein protein-coding ENSG00000198685 17099 13607 VALIDATED 1601946 C2orf88 chromosome 2 open reading frame 88 2 2 2 q32.2 184597431 184663252 + 190710731 190776455 + 191002486 191068210 + 6480464 23115245;16344560;16303743;16189514;12477932;17207965 84281 C9JS57;H7BZ15;P0C876;Q9BSF0 ABBA01062383;AC010679;AK075168;AK313395;AMYH01011345;BC005083;BU567236;BX648070;CH471058;DA247977;DA389238;NM_001042519;NM_001042520;NM_001042521;NM_032321 AAH05083;AAX93233;ADQ32431;BAG36193;EAX10878;EAX10879;NP_001035984;NP_001035985;NP_001035986;NP_115697;P0C876;Q9BSF0 Hs.389311 1686520;1686738;1721457;2114428;2137539;2183731 G59581;RH69372;RH93597;RH94194;SHGC-35899;WIAF-2135 MGC13057;smAKAP OTTHUMP00000205557;OTTHUMP00000205558;OTTHUMP00000205559;OTTHUMP00000205560;OTTHUMP00000205561;OTTHUMP00000205562;UPF0733 protein C2orf88;Uncharacterized protein FLJ90687;hypothetical protein LOC84281;small A-kinase anchoring protein;small membrane AKAP protein-coding ENSG00000187699 28191 14436 615117 VALIDATED 1343380 C3orf20 chromosome 3 open reading frame 20 3 3 3 p25.1 14654855 14752777 + 14691658 14789545 + 14716606 14814543 + 737633;6480464 12477932 11256614;16381901;15489336;15489334;11230166;11076863;16344560;20379614;21832049 84077 Q8ND61 ABBA01025153;ABBA01025154;AC090957;AK131481;AL136781;AL834386;AMYH01012996;AMYH01012997;BC030599;BC038406;BG718869;CH471055;DB064418;NM_001184957;NM_001184958;NM_032137 AAH30599;AAH38406;CAB66715;CAD39049;CAL37708;CAL37860;CAL38115;EAW64204;EAW64205;EAW64206;NP_001171886;NP_001171887;NP_115513;Q8ND61 Hs.661452 1775494;1956446;2164263;2185317 REN49088;RH16620;SHGC-33603;SHGC-76719 DKFZP434N1817 OTTHUMP00000208214;OTTHUMP00000208215;OTTHUMP00000208216;hypothetical protein LOC84077;uncharacterized protein C3orf20 protein-coding ENSG00000131379 25320 12821 VALIDATED 1353843 C3AR1 complement component 3a receptor 1 12 12 p13.31 8102186 8110222 - 8210919 8218955 - 1580863;5129690;5129559;5129512;5129702;5129564;5129560;5129561;5129686;5129688;5129681;6480464;6907045 16461429;15278436;15159277;21421909;17544263;15940127;20045013;17079327;20802484 21371235;8702752;10571060;8765043;8898085;19344414;19247692;19005416;18538384;17498719;17472841;17234193;16778800;15489334;15356170;15067069;15039137;12871936;12511407;12477932;11412308;11342658;11160252;11044372;10725738;10358194;10340761;9725198;9694514;9221749;8605247;8125298;20484595;18577758;21589858;22868393;21799898;15123239;22901903;23284683;23077507 719 A8K2H7;F5GZE6;Q16581 AB065870;ABBA01012236;AC006511;AK223388;AK290242;AK312458;AMYH01004224;AY268431;AY455929;BC020742;CH471116;NM_004054;U28488;U62027;Z73157 AAC50374;AAC50657;AAH20742;AAP23198;AAR13862;ABM82930;ABM86123;ABM87839;BAC06088;BAD97108;BAF82931;BAG35365;CAA97504;EAW88640;EAW88641;NP_004045;Q16581 Hs.591148 1795456;2132674;2139319;2184584 C3AR1_491;RH44757;STS-U28488;WI-18562 AZ3B;C3AR;HNFAG09 C3a anaphylatoxin chemotactic receptor;C3a-R;OTTHUMP00000239050;OTTHUMP00000239051;complement component 3 receptor 1 protein-coding ENSG00000171860 1319 05581 605246 VALIDATED 1352471 C3orf17 chromosome 3 open reading frame 17 3 3 3 q13.2 111129629 111146889 - 114203981 114221245 - 112721291 112738555 - 737633;6480464 12477932 16565220;15489334;14702039;19615732;19850743;21890473;21906983 25871 A8MVI8;C9J9E3;E9PFF8;F2Z3E4;F8WBQ8;F8WC60;F8WDL7;Q6NW34 ABBA01061657;AC074044;AK024325;AK092546;AK293218;AK295165;AK295954;AK300811;AK301161;AK304022;AK304083;AL117573;AL537045;AMYH01013392;BC014673;BC056663;BC067743;BM152568;CH471052;CR749341;NM_015412;NR_027794;NR_027796 AAH67743;ACE86517;ACE86712;ACE87196;ACE87397;BAB14885;BAG56757;BAG58177;BAG58735;BAG62467;BAG62751;BAG64937;BAG64990;CAB55998;CAH18194;EAW79648;EAW79649;EAW79650;EAW79651;NP_056227;Q6NW34 Hs.591288 1644847;1660120;1665440;1678227;1685017;1760177;1764659;1770445;2133559;2141812;2171570;2179022 Cda1ac05;RH44330;RH46087;RH65022;RH92227;SHGC-132456;SHGC-148248;SHGC-32187;SHGC-33071;SHGC-77207;SHGC-77208;WI-13462 DKFZp434F2021;NET17 OTTHUMP00000214707;OTTHUMP00000214708;hypothetical protein LOC25871;uncharacterized protein C3orf17 protein-coding ENSG00000163608 24496 08524 VALIDATED 735504 C3 complement component 3 Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. People with C3 deficiency are susceptible to bacterial infection. [provided by RefSeq, Feb 2009] 19 19 p13.3-p13.2 6628846 6671662 - 6677846 6720662 - 1600604;1580863;1580273;2314030;2314031;5129507;5129562;5130153;5130170;1600605;5130169;5129517;5129694;5129513;5129519;5129524;5129564;5129550;1582136;5129502;5129514;5129516;5129537;5129681;5129536;5129538;5129563;5129508;1600478;5129523;5129535;5129539;5129540;1599509;5129484;5129520;5129492;5129504;5129512;5129500;4142862;5129509;5129542;5129543;5130163;5129525;5129501;5129505;5129554;6480464;6907045;7175513;7175514;7175516;7175543;7175544;7183082;7183083;7175542;7240710 2212005;16367929;16488421;3253105;16186675;10886251;3826891;18648551;16996480;19050293;11591733;2784515;12235218;20589464;17345707;21421909;11950907;11560858;18069416;12196286;12096683;20402389;20802484;17981193;20395963;10729746;16014897;16751365;17956621;18052971;20109314;17114852;16677633;20510197;18256172;21408070;17975205;15278436;19472039;19258923;15972516;14577867;14561876;20405;17169032;18566738;16355111;11532096;22320401;22103620;22863782;11287758;21888025;19200691;10955930;17960140 20453728;11854358;8406564;21801245;18054386;18039528;17984207;17767156;17762737;17703412;17684013;17634448;17520688;17502296;17498719;17482181;17372315;17322907;17172439;17060630;17051160;17051152;17051150;16893076;16889542;16823297;16809564;16670774;16627066;16570073;16516157;16449793;16339538;16335952;16301317;16263699;16199891;16177781;16148107;15872081;16148115;15833747;15810889;15749882;15713468;15713467;15648851;15590640;15489226;15383607;15381670;15342556;15241561;15187133;15090635;15033778;14760718;14702039;14662858;14639503;14563826;14527961;12967641;12942785;12893820;12816955;12761187;12754519;12679444;12645945;12511407;12477932;12165538;12006395;11979403;11939578;11896391;9164946;162484;10085065;279011;3052276;6912277;12878586;15199963;19559392;19505474;19457998;19454698;19407382;19399715;19387462;19344414;19336475;19328844;19265162;19263529;19259132;19247692;19246358;19234341;19225544;19202148;19196712;19179465;19168221;19164292;19131662;19112495;19048105;19028829;19028820;19022911;19017934;19015224;19005416;18974840;18936151;18854167;18805911;18802120;18796626;18760301;18755462;18702682;18694577;18682851;18671285;18631248;18596911;18585783;18572187;18562603;18562232;18456336;18434316;18383369;18356838;18325906;18253759;18247123;18206145;18174230;18061265;21665990;11813855;11803045;11785295;11773063;11684127;11513971;11387479;11367533;11342658;11086104;11073102;11058592;10946275;10882776;10622723;10610782;10608878;10382758;10358196;10079271;10078261;9988761;9719152;9605165;9596584;9291131;8943712;8845016;8702752;8648130;8416818;10432298;12540846;22635230;9555951;7539791;7512600;6203109;6175959;4097977;4062888;3871945;3546307;3488995;3421908;3279119;3260670;2824652;2584723;2579379;2473125;2387584;1976733;1861080;1830068;1717583;1703437;1577777;1531292;1401896;1350678;1323007;1238393;695691;7893437;8630395;8471312;9544576;7535292;7911492;7642209;7590866;11884542;7961791;23628799;21527715;21404895;20817881;21402993;20385826;20173020;20089077;20188594;20951140;20926033;21205667;20861866;20862287;20888482;20841369;20498262;22234447;22390383;19913121;20576771;20603037;20628086;20628624;20664795;16452172;16530040;18039777;19117936;19423540;19503104;19549636;19590060;19661236;19665237;19670317;19680263;19694644;19703145;19767107;19773279;19797206;19823576;19825847;19828715;19834535;19843088;19850835;19861685;19899988;19913840;19939777;19948975;20091675;20104494;20105310;20139276;20139773;20157618;20237496;20238042;20378178;20379614;20381870;20385819;20406964;20438785;20503287;20513133;20523265;20105190;20644161;20852386;20837143;21163532;21462136;21270401;20706769;20807366;21085669;21788512;21435440;22792353;23071281;22851413;21658310;21308746;21813769;21415311;21501302;21642543;22264230;22718507;22930722;23337555;21555552;21566112;21733505;22007489;22228414;22273503;19878567;21706294;22669319;22132894;22553783;22705344;22089112;22138144;22153860;22361228;22542119;20639865;21055811;21816153;21966368;23390291;22246034;22258234;22393059;22174912;23455636;22145905;22194611;22250080;22171262;22415003;20301541;21414106;22176838;22324951;20926148;21464960;21664558;21953030;22518841;22996269;23056509;23068452;23028341;23209669;23285141;23537682;21988832;22878256;23031360;23098807;23134230;23206327;23619360;23750785;23235567;23365660;22253322;9059512;22909298;23233260 718 M0QXZ3;M0QYC8;M0R0Q9;M0R1Q1;P01024 ABBA01051470;ABBA01051471;ABBA01051472;ABBA01051473;ABBA01051474;AC008760;AI758500;AK094728;AK304071;AMYH01009377;AY513239;BC022897;BC063852;BC150179;BC150200;BC150299;BP201387;BP349355;CH471139;CQ985770;J04763;K02765;M55658;M63423;NG_009557;NM_000064 AAA35722;AAA85332;AAI50180;AAI50201;AAR89906;BAG64978;CAI46844;EAW69070;EAW69071;NP_000055;P01024 Hs.529053 1649693;1679283;1741127;2136247;2138189 GDB:177904;RH11718;RH45403;RH80210;SGC31874 AHUS5;ARMD9;ASP;C3a;C3b;CPAMD1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1;C3a anaphylatoxin;OTTHUMP00000197086;acylation-stimulating protein cleavage product;complement C3;complement component C3;complement component C3a;complement component C3b;prepro-C3 APPROVED protein-coding ENSG00000125730 1318 00400 120700;611378;612925;613779 REVIEWED 1606145 C3orf30 chromosome 3 open reading frame 30 3 3 3 q13.32 117273489 117278794 + 120347687 120352992 + 118864997 118870302 + 14702039;12477932;19821082 152405 E9PFE5;H7C4V1;H7C564;H7C5E0;Q96M34 ABBA01061587;AC083800;AK057421;AMYH01013417;BC130475;BC144197;CH471052;DW009752;NM_152539 AAI30476;AAI44198;BAB71478;EAW79578;NP_689752;Q96M34 Hs.730099 FLJ32859;TSCPA OTTHUMP00000214992;OTTHUMP00000214993;OTTHUMP00000214995;OTTHUMP00000214997;hypothetical protein LOC152405;uncharacterized protein C3orf30 protein-coding ENSG00000163424 26553 08146 VALIDATED 1603560 C3orf22 chromosome 3 open reading frame 22 3 3 3 q21.3 124693189 124702399 - 127751209 127760448 - 126268519 126277758 - 6480464 15489334;14702039;12477932 152065 B3KUS9;Q8N5N4 ABBA01016386;AC024558;AK097841;AMYH01013450;BC032025;CH471052;HC007152;NM_152533 AAH32025;BAG53541;CBH19381;EAW79358;NP_689746;Q8N5N4 Hs.178210 1683465 RH92341 MGC34728 OTTHUMP00000222592;hypothetical protein LOC152065;uncharacterized protein C3orf22 protein-coding ENSG00000180697 28534 14585 PREDICTED 1605538 C3orf35 chromosome 3 open reading frame 35 3 3 3 p22.2 37374537 37410558 + 37415972 37451992 + 37440968 37476988 + 6480464 16344560;16187228;15208675;12771950;12543795;12477932 339883 Q8IVJ6;Q8IVJ8 ABBA01024844;AC092055;AC136290;AJ493599;AJ493600;AJ493601;AJ493602;AJ493603;AJ493604;AJ493605;AMYH01013087;BC100859;BC100860;BC100861;BC100862;BC112433;BC113895;BC132691;BC133024;BC144376;BC144377;CH471055;DB349441;NM_178339;NM_178342 AAI32692;AAI33025;AAI44377;AAI44378;ADR83466;CAD42702;CAD42703;CAD42704;CAD42705;CAD42706;CAD42707;CAD42708;EAW64498;EAW64499;EAW64500;NP_848029;NP_848032;Q8IVJ8 Hs.475945 1337145;1646653;1658936;1665131;2124768;2135949;2166967;5022651 A003B17;D11S2921;D3S2885E;D3S3623;D3S4247;NIB1520;SHGC-76828;WI-18659 APRG1 AP20 region protein 1;AP20 region protein1;OTTHUMP00000208938;OTTHUMP00000208939;OTTHUMP00000208941;OTTHUMP00000208942 protein-coding ENSG00000198590 24082 16502 611429 VALIDATED 1605242 C3orf33 chromosome 3 open reading frame 33 3 3 3 q25.31 153901052 153944745 - 156963095 157006749 - 155480401 155524055 - 6480464 15489334;14702039;12477932;18487146;20515784;20680465;21832049;19322201 285315 F8WCI5;F8WDI1;H7C4I0;Q6P1S2 ABBA01058854;AC104472;AF115515;AK055701;AK289890;AL832165;AMYH01013595;AMYH01013596;BC042198;BC064898;CH471052;NM_173657 AAH42198;AAH64898;AAO06952;BAB70989;BAF82579;EAW78745;EAW78746;NP_775928;Q6P1S2 Hs.350846 5014563;5015961;5022200;5022322;5037552 D11S2560;D15S1477;D8S2279;L17676;L18426 AC3-33;FLJ31139 AP-1 activity suppressor;OTTHUMP00000212995;hypothetical protein LOC285315;uncharacterized protein C3orf33 protein-coding ENSG00000174928 26434 08095 PROVISIONAL 1602414 C3orf53 chromosome 3 open reading frame 53 3 p24.1 28591929 28592915 - 14702039 285322 Q8N290 AC109586;AK090970;XM_928239 BAC03560;Q8N290;XP_933332 Hs.376725 FLJ33651 protein-coding 26589 08162 1602212 C3orf36 chromosome 3 open reading frame 36 3 3 3 q22.1 132072844 132074511 - 135129679 135131346 - 133646989 133648656 - 6480464 15489334;14702039;12477932;21832049 80111 Q3SXR2 ABBA01059163;AC080128;AK025826;AK225383;AMYH01013511;BC051274;BC064502;BC082257;BC104161;BC104162;CH471052;NM_025041 AAI04162;AAI04163;BAB15249;EAW79157;NP_079317;Q3SXR2 Hs.287691 5493499 UniSTS:486865 FLJ22173;MGC125760;MGC125761 hypothetical protein LOC80111;uncharacterized protein C3orf36 protein-coding ENSG00000221972 26170 07981 VALIDATED 1602632 C3orf38 chromosome 3 open reading frame 38 3 3 3 p11.1 88952867 88961107 + 88281799 88288758 + 88198893 88207115 + 6480464 15489334;12477932;21177773;21139048;21906983;22505724 285237 E9PFZ1;Q5JPI3 ABBA01004634;AC128650;AK297719;AK313547;AL832398;AMYH01013325;BC016013;BC024188;CH471110;NM_173824 AAH24188;ADZ15889;BAG36323;BAG60073;CAI46184;EAW68858;EAW68859;EAW68860;NP_776185;Q5JPI3 Hs.476944;Hs.518099 1690920;5015861;5037552;7185938 D10S16;D8S2279;RH92935 FLJ54270;MGC26717 OTTHUMP00000208594;OTTHUMP00000214138;hypothetical protein LOC285237;uncharacterized protein C3orf38 protein-coding ENSG00000179021 28384 14509 VALIDATED 1604329 C3orf37 chromosome 3 open reading frame 37 3 3 3 q21.3 127428466 127455235 + 130480374 130506826 + 128997684 129024136 + 6480464 15489334;12477932;9110174;8889548;8619474;21832049;19471022;19953087;21693764;21890473;21906983;21963094;22505724 56941 D6R9T3;D6RAI0;D6RAZ3;D6RGK7;E7EMP6;Q96FZ2 ABBA01020934;ABBA01020935;AC137695;AF201934;AK025883;AK225264;AK297501;AK309891;AMYH01013475;AY007144;BC009993;BC010125;BC050686;BC088363;BU728549;CH471052;NM_001006109;NM_020187 AAF86870;AAH09993;AAH10125;AAH50686;AAH88363;ABM84010;ABM87350;BAG59914;EAW79265;EAW79266;NP_001006109;NP_064572;Q96FZ2 Hs.458320 1647985;1678533;1854077;2149065;2155005;2160648 A002R07;D3S3816;DBEST27818;HSC2JD062;RH98834;SHGC-4168 DC12;MGC111075 OTTHUMP00000215384;OTTHUMP00000215385;OTTHUMP00000215386;OTTHUMP00000215387;OTTHUMP00000215388;OTTHUMP00000215392;UPF0361 protein C3orf37;chromosome 3 open reading frame 37 protein-coding ENSG00000183624 24446 13119 VALIDATED 1604495 C3orf43 chromosome 3 open reading frame 43 3 3 3 q29 194816034 194824582 - 197718147 197726634 - 196233750 196242237 - 15489334;12477932 255798 F8WEP5;Q147U7 ABBA01033741;ABBA01033742;ABBA01033743;AC092933;AK123917;AK291522;AL833140;AL833443;AMYH01013794;BC118556;BC118636;NM_001077657 AAI18557;AAI18637;BAF84211;BAG53982;NP_001071125;Q147U7 Hs.631933 2153866 RH41804 DKFZp313B0440;FLJ41923;MGC141734;MGC141735;SMCO1 OTTHUMP00000208310;hypothetical protein LOC255798;single-pass membrane and coiled-coil domain-containing protein 1;single-pass membrane protein with coiled-coil domains 1;uncharacterized protein C3orf43 protein-coding ENSG00000214097 27407 VALIDATED 1602072 C3orf49 chromosome 3 open reading frame 49 3 3 3 p14.1 63821801 63851073 + 63775826 63809352 + 63805041 63834312 + 15489334;15203218;12477932 132200 Q96BT1 ABBA01024315;AC104162;AMYH01013247;BC015210;CD636567;NR_026866 Q96BT1 Hs.506386 1653081 SHGC-77029 MGC17310 miscrna ENSG00000163632 25190 VALIDATED 1601717 C3orf55 chromosome 3 open reading frame 55 3 3 3 q25.32 155684834 155742697 + 158743860 158779237 + 157261133 157319022 + 6480464 12477932;8889549;11329013 152078 A1A4F0;C9J2K9;C9JRW5 AA131625;ABBA01058828;ABBA01058829;AC084212;AI377021;AMYH01013603;AMYH01013604;AW151487;BC010062;BC029129;BC126187;BC126189;BC144066;BE905784;BG209594;BG217991;BX113701;CH471052;NM_001099777;NM_001130001;NM_001130002;NM_001243729;NR_024016 A1A4F0;AAH29129;AAI26188;AAI26190;ADR82799;EAW78701;EAW78702;NP_001093247;NP_001123473;NP_001123474;NP_001230658 Hs.259046 1852808 RH48081 OTTHUMP00000213373;OTTHUMP00000213374;OTTHUMP00000213375;OTTHUMP00000213376;putative uncharacterized protein C3orf55 protein-coding ENSG00000174899 25146 VALIDATED 1606226 C3orf52 chromosome 3 open reading frame 52 3 3 3 q13.2 110204266 110236149 + 113287929 113319734 + 111805182 111837073 + 6480464 16344560;15737651;15489334;14702039;12477932;19322201 79669 H7C5J7;Q5BVD1 AA215562;ABBA01061667;ABBA01061668;AC024887;AC128688;AK026839;AK298076;AK303588;AMYH01013389;AY830714;BC017064;BX104180;CH471052;DB159226;NM_001171747;NM_024616 AAH17064;AAX21411;ADZ16001;BAB15569;BAG60364;BAG64604;EAW79681;NP_001165218;NP_078892;Q5BVD1 Hs.434247 1658836;1675618 RH93661;SHGC-59894 FLJ23186;TTMP OTTHUMP00000214424;OTTHUMP00000214425;TPA induced trans-membrane protein;TPA-induced transmembrane protein;novel endoplasmic reticulum transmembrane protein protein-coding ENSG00000114529 26255 08018 611956 VALIDATED 1602415 C3orf56 chromosome 3 open reading frame 56 3 3 q21.3 128394664 128399715 + 126911974 126917025 + 14702039;12477932 285311 Q8N813 ABBA01020875;AC112482;AK097460;AMYH01013452;BC137154;BC137155;HC044771;NM_001007534;XR_108480;XR_112539;XR_171405 AAI37155;AAI37156;BAC05062;CBH30715;NP_001007535;Q8N813 Hs.591284 FLJ40141 putative uncharacterized protein C3orf56 protein-coding ENSG00000214324 32481 16949 VALIDATED 2298743 C3orf72 chromosome 3 open reading frame 72 3 3 3 q22.3 137092546 137099300 + 140148766 140155520 + 138666076 138672830 + 401089 F8WBY5;Q6ZUU3 ABBA01059072;AC092947;AC130416;AK125319;AK304483;AMYH01013536;NG_029796;NM_001040061 BAC86125;BAH14198;NP_001035150;Q6ZUU3 Hs.591303 2218710 UniSTS:463206 FLJ52231 FLJ43329 protein;OTTHUMP00000216880;chromosome 3 open reading frame 72;uncharacterized protein C3orf72 protein-coding ENSG00000206262 34428 VALIDATED 3234336 C3orf79 chromosome 3 open reading frame 79 3 3 3 q25.2 151619934 151638137 + 154684974 154703176 + 153202284 153220486 + 152118 P0CE67 ABBA01058876;AC078788;AF086445;AMYH01013589;CH471052;NM_001101337 EAW78768;NP_001094807;P0CE67 Hs.58586 OTTHUMP00000216027;putative uncharacterized protein C3orf79 protein-coding ENSG00000237787 37259 PREDICTED 1605264 C3orf67 chromosome 3 open reading frame 67 3 3 3 p14.2 58741188 59049142 - 58702777 59010755 - 58727737 59035715 - 12477932;20379614 200844 C9IYJ1;C9J3M8;C9J8V2;F5H9F7;F8WF72;H0Y8H3;H7C4Q4;H7C4R0;H7C586;H7C5H9;Q6ZVT6 ABBA01024373;ABBA01024374;ABBA01024375;AC104300;AC104303;AC119424;AK124111;AK124920;AK128200;AK296111;AMYH01013231;BC050317;BC075863;BC132815;BC140002;BC151142;CH471055;NM_198463 AAH50317;AAI32816;AAI51143;BAC85775;BAC85994;BAG58860;EAW65383;EAW65384;EAW65385;EAW65386;EAW65387;EAW65388;EAW65389;EAW65390;EAW65391;NP_940865;Q6ZVT6 Hs.368434 1338562;1646986;1651097;1667863;1679289;1695798;1697350;1715241;1726589;1731293;5014051 D3S1450;D3S1766;D3S3040;D8S2278;G62527;RH102173;RH119871;RH93562;SHGC-14756;SHGC-31910;SHGC-82555 FLJ42117;FLJ42930;MGC48416 OTTHUMP00000214186;OTTHUMP00000214328;hypothetical protein LOC200844;uncharacterized protein C3orf67 protein-coding ENSG00000163689 24763 13458 VALIDATED 2301260 C3orf73 chromosome 3 open reading frame 73 3 q21.3 130197985 130234686 + 16641997;15489334 729581 AC112484;XM_001130148;XM_001130701;XM_001714569 A8MYE2;XP_001130148;XP_001130701;XP_001714621 Hs.134807 protein-coding 34529 1602599 C3orf65 chromosome 3 open reading frame 65 3 3 3 q27.2 183868956 183873871 + 186913774 186918649 + 185431040 185435955 + 14702039;12477932 646600 F8WDD8;Q96M15 ABBA01058406;AC016961;AC108670;AK057462;AMYH01013729;BC039525;BC041450;BC137313;BC137314;CH471052;NG_011602;NR_027317 BAB71499;EAW78212;Q96M15 Hs.647949;Hs.737101 FLJ32900 miscrna ENSG00000163915 32674 VALIDATED 1605238 C3orf70 chromosome 3 open reading frame 70 3 3 3 q27.2 183242851 183317793 - 186278532 186353496 - 184795838 184870802 - 6480464 12477932;21042317 285382 A6NLC5 ABBA01058429;AC007934;AC025573;AMYH01013726;AMYH01013727;BC137178;BC137179;BC150565;CH471052;NM_001025266 A6NLC5;AAI37179;AAI37180;AAI50566;EAW78232;NP_001020437 Hs.380048 1650295;1715631;5020988;5037552 D22S958;D8S2279;RH119259;SHGC-77613 OTTHUMP00000210414;UPF0524 protein C3orf70;hypothetical protein LOC285382 protein-coding ENSG00000187068 33731 18774 PREDICTED 7207322 C4B_2 complement component 4B (Chido blood group), copy 2 This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. This GeneID and its associated RefSeq record represent a second copy of C4B found on ALT_REF_LOCI_7. [provided by RefSeq, Jul 2011] 10207042;12224044;12226794;17503323;18032375;19505723;20795316;2431902;2883116;6546707 100293534 Q96SA7 BX679671;NM_001242823 NP_001229752 Hs.534847 1648514;1712246;1745799;1769516;2121053;2143466;5127416 G54031;GDB:642029;RH1519;RH36425;RH46798;SHGC-12566;SHGC-31623 complement C4-B-like protein-coding 42398 REVIEWED 1602042 C3orf62 chromosome 3 open reading frame 62 3 3 3 p21.31 49269717 49277952 - 49281223 49289456 - 49306030 49314508 - 6480464 15489334;14702039;12477932;17207965;21832049 375341 C9JW57;H7BZX3;Q6ZUJ4 ABBA01024601;AC121247;AK056215;AK096799;AK125642;AMYH01013156;BC023586;BC032616;BC053629;BC061697;CH471055;NM_198562 AAH23586;AAH53629;AAH61697;ADQ32598;BAC86231;EAW64967;NP_940964;Q6ZUJ4 Hs.403828 1672246;1857714;2108983;2116986;2119674;2151369;2168751;2170375;5014019;5015961 D15S1477;D5S2354;RH18550;RH41918;RH45172;SGC32571;SHGC-31529;SHGC-57032;STS-U20657;USP4_8707 FLJ43654;MGC23381;MGC61663;MGC62079 OTTHUMP00000210683;OTTHUMP00000210721;hypothetical protein LOC375341;uncharacterized protein C3orf62 protein-coding 24771 13475 VALIDATED 1603352 C3orf58 chromosome 3 open reading frame 58 3 3 3 q24 142113447 142133972 + 145173603 145193895 + 143690640 143711210 + 6480464 17207965;21264219;16344560;15489334;14702039;12477932;8889548;18651652;23784961;21283809 205428 B3KTD4;C9JY09;E7ET39;Q8NDZ4 ABBA01059010;ABBA01059011;AC117379;AK025119;AK095063;AK095161;AK095400;AK294020;AK315082;AL832839;AMYH01013554;BC037293;BM968874;CH471052;DA760601;DB067725;DC310234;DC310421;NM_001134470;NM_173552 AAH37293;ADQ31743;BAG37549;BAG52997;BAG53046;BAH11649;EAW78946;EAW78947;EAW78948;NP_001127942;NP_775823;Q8NDZ4 Hs.288954 DIA1;HASF;MGC33365 Golgi protein GoPro49;OTTHUMP00000215115;OTTHUMP00000215116;UPF0672 protein C3orf58;deleted in autism 1;deleted in autism protein 1 protein-coding ENSG00000181744 28490 14559 612200 VALIDATED 1342759 C4BPAP1 complement component 4 binding protein, alpha pseudogene 1 1 1 1 q32.2 180591424 180609988 + 205405463 205424029 + 207338840 207357406 + 8406448;2352933 727859 ABBA01048247;AL445493;AMYH01001680;NG_006475 1750629 SHGC-111938 C4BPAL1 APPROVED pseudo 1326 INFERRED 1345971 C4BPAP2 complement component 4 binding protein, alpha pseudogene 2 1 1 1 q32 180651731 180655135 + 205468269 205468468 + 207399143 207402547 + 7806286 724 ABBA01048247;AL596218;AMYH01001680;NG_002761;X81360;X81361;X81362 C4BPAL2 APPROVED pseudo 1327 INFERRED 5486719 C3orf80 chromosome 3 open reading frame 80 3 3 q25.33 161425777 161428694 + 159943423 159946000 + 11181995;12477932 401097 F5H4A9 ABBA01058798;ABBA01058799;AC112641;AMYH01013614;BC031660;CH471052;NM_001168214 AAH31660;EAW78649;F5H4A9;NP_001161686 Hs.729755 hypothetical protein LOC401097;uncharacterized membrane protein C3orf80 protein-coding ENSG00000180044 40048 VALIDATED 1603837 C3P1 complement component 3 precursor pseudogene 19 19 19 p13.2 10047526 10080306 + 10013032 10045811 + 10152032 10184814 + 6480464 15060002;12477932;11752456;16712791 388503 Q6ZMU1 ABBA01029950;ABBA01029951;ABBA01029952;AC020931;AK131489;AMYH01009466;AMYH01009467;AW827199;CB162385;CH471106;DT932550;NR_027300 BAD18634;EAW84063;EAW84064;EAW84065;Q6ZMU1 Hs.655363 1716345;2154875 RH121350;SGC33001 CPLP pseudo ENSG00000167798 34414 18382 VALIDATED 1350864 C4A complement component 4A (Rodgers blood group) This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 6 6 p21.3 32090549 32111173 + 31949834 31970457 + 5688253;5688260;5688264;5688259;5688262;5688255;6480464;6907045;7240710 21913394;17503323;21943165;19150565;16879240;21809649 21801245;22387014;22297669;162484;6019133;12878586;15199963;19167759;19137635;19062096;19035512;19028829;18636124;18360261;18069935;18058064;18054386;17921792;17728371;17257223;17212707;16908004;16893076;16439442;16335952;16098595;15998580;15794202;15787745;15166556;15039137;14760718;14574404;12894949;12754519;12480675;12477932;12367531;12226794;12224044;12133986;11803045;11367523;11168010;10529130;10092831;10072631;9725198;8660986;8589688;8473511;8422437;8132574;8012361;7545960;7518568;6978711;6950384;6881182;6832377;6577433;6572000;6559257;6546707;6316164;6167582;3944109;3838531;3696167;3542363;3264881;2883116;2612324;2431902;2304899;1988494;1699796;1573268;11773063;23592783;20795316;20498262;21164027;20936779;20409594;7391573;17971360;18091514;19135723;19665237;19923011;20139276;20346360;20506482;19913121;20628086;22406254;20649895;21085669;21345967;22151770;22737222;22949645;21677994;21857912;23335107;15174051;22616691;22886582;22052466;21904924;23028341;23031360;22837109;23750785;22785613 720 B0UZ83;B4DDH0;F5H2J9;Q6U2F8 AB209989;ABBA01038101;AI065121;AK293191;AK293364;AL645922;AL844853;AL929593;AMYH01016223;AMYH01016224;AMYH01016225;AY224378;AY379864;AY379866;AY379880;AY379881;AY379882;AY379883;AY379885;AY379887;AY379888;AY379889;AY379890;AY379891;AY379892;AY379893;AY379894;AY379895;AY379896;AY379897;AY379898;AY379899;AY379900;AY379902;AY379904;AY379906;AY379908;AY379912;AY379913;AY379914;AY379915;AY379916;AY379917;AY379918;AY379919;AY379920;AY379921;AY379922;AY379923;AY379928;AY379929;AY379930;AY379931;AY379932;AY379933;AY379934;AY379935;AY379960;AY379961;AY379962;AY379963;AY379964;AY379965;AY379966;AY379967;AY379968;AY379969;AY379970;AY379971;BC012372;BC016933;BC063289;BC144546;BC146673;BC146849;BC151204;BC171786;BX452374;CR753845;CR936924;K00830;K02403;L26261;M14823;M14824;M59815;M59816;NG_011638;NM_001252204;NM_007293;S58715;S81585;U07851;U07852;U07853;U07855;V00502;X77491;XM_003960046;XM_003960047 AAA20121;AAA35617;AAA36229;AAA51855;AAA52292;AAB26211;AAB36122;AAB59537;AAB63418;AAB63419;AAB63420;AAB63422;AAH12372;AAH63289;AAI44547;AAI46674;AAI46850;AAI51205;AAI71786;AAP83249;AAR89091;AAR89093;AAR89107;AAR89108;AAR89109;AAR89110;AAR89112;AAR89114;AAR89115;AAR89116;AAR89117;AAR89118;AAR89119;AAR89120;AAR89121;AAR89122;AAR89123;AAR89124;AAR89125;AAR89126;AAR89127;AAR89130;AAR89132;AAR89134;AAR89136;AAR89139;AAR89140;AAR89141;AAR89142;AAR89143;AAR89144;AAR89145;AAR89146;AAR89147;AAR89148;AAR89149;AAR89150;AAR89155;AAR89156;AAR89157;AAR89158;AAR89159;AAR89160;AAR89161;AAR89162;AAR89164;AAR89165;AAR89166;AAR89167;AAR89168;AAR89169;AAR89170;AAR89171;AAR89172;AAR89173;AAR89174;AAR89175;BAE06071;BAG56731;BAH11494;CAA23760;CAA54627;NP_001239133;NP_009224;P0C0L4;XP_003960095;XP_003960096 Hs.534847;Hs.720022 1648514;1712246;1745799;1769516;2106659;2121053;2143466;5127416 G54031;GDB:642029;RH1519;RH36425;RH46798;SHGC-12566;SHGC-31623;STK19__5340 C4;C4A2;C4A3;C4A4;C4A6;C4AD;C4S;CO4;CPAMD2;MGC164979;RG C3 and PZP-like alpha-2-macroglobulin domain-containing protein 2;C4A anaphylatoxin;OTTHUMP00000029266;OTTHUMP00000216221;Rodgers form of C4;acidic C4;acidic complement C4;complement C4-A;complement component 4a APPROVED protein-coding ENSG00000244731 1323 00401 120810;152700;614374;614380 REVIEWED 1605129 C4B complement component 4B (Chido blood group) This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, Jul 2008] 6 6 p21.3 32057813 32078435 + 31982572 32003195 + 5688253;5688257;5688260;5688264;5688263;5688259;5688256;5688255;6480464;6907045 21913394;20452682;17503323;21943165;22076784;19150565;21445879;21809649 22169613;21967755;22387014;22393059;19167759;19137635;19062096;18929826;18927458;18682851;18645500;18365397;18360261;18347532;18315707;18179706;18085389;18065805;18032375;17984207;17921792;17915330;17728371;17425651;17318071;17257223;17212707;17202363;17015733;16980082;16908004;16893076;16889542;16740002;16504674;16386506;16344560;16098595;15998580;15816885;15787745;15665772;15456488;15203218;15096498;15033778;14989716;14760718;14574404;12907438;12893820;12754519;12480675;12477932;12226794;12224044;11803045;11367523;11341920;11168010;11062289;10946278;10851272;10528211;10383431;10207042;10072631;9759862;8889548;8660986;8575831;8132574;7545960;7525470;6978711;6950384;6881182;6832377;6559257;6546707;6167582;3944109;3840370;3696167;3542363;2883116;2431902;2295627;1988494;1717583;1699796;1088823;7893437;8630395;7911492;7642209;7590866;17971360;18091514;19135723;19505723;19900552;20139276;20506482;20795316;20022265;20580617;7391573;12878586;19913121;20628086;21345967;21085669;23006730;21642539;22151770;22737222;21620080;22132894;21857912;23199209;22841245;22878256;23274969;23026593;22785613 721 B4DDH0;F5GXS0;Q6U2F8;Q96SA7 ABBA01138727;AF019413;AF092085;AK304564;AL049547;AL645922;AL662849;AL929593;AY343497;AY379860;AY379861;AY379862;AY379863;AY379865;AY379867;AY379868;AY379869;AY379870;AY379871;AY379872;AY379873;AY379874;AY379875;AY379876;AY379877;AY379878;AY379879;AY379884;AY379886;AY379901;AY379903;AY379905;AY379907;AY379909;AY379910;AY379911;AY379924;AY379925;AY379926;AY379927;AY379959;BM672834;BQ960796;BX679671;CD624022;CR753845;DA395398;DA918359;K02404;NG_011639;NM_001002029;U24578;U77886;U77887 AAA59651;AAA99717;AAB67980;AAC98380;AAI72377;AAK49810;AAK49811;AAQ99144;AAR89087;AAR89088;AAR89089;AAR89090;AAR89092;AAR89094;AAR89095;AAR89096;AAR89097;AAR89098;AAR89099;AAR89100;AAR89101;AAR89102;AAR89103;AAR89104;AAR89105;AAR89106;AAR89111;AAR89113;AAR89128;AAR89129;AAR89131;AAR89133;AAR89135;AAR89137;AAR89138;AAR89151;AAR89152;AAR89153;AAR89154;AAR89163;BAG65356;CAB89302;NP_001002029;P0C0L5 Hs.534847;Hs.720022 1648514;1678425;1712246;1745799;1769516;1797462;2106223;2106659;2121053;2137309;2143466;2157927;5127416 CYP21A2_2362;G29213;G54031;GDB:642029;N3_3_2;RH11436;RH1519;RH36425;RH46798;SHGC-12566;SHGC-31623;STK19__5340;WI-7720 C4B1;C4B12;C4B2;C4B3;C4B5;C4BD;C4B_2;C4F;CH;CO4;CPAMD3;FLJ60561;MGC164979 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 3;Chido form of C4;OTTHUMP00000029269;basic C4;basic complement C4;complement C4-B;complement C4B1a APPROVED protein-coding ENSG00000224389 1324 00402;18631 120820;614379 REVIEWED 736103 C4BPA complement component 4 binding protein, alpha This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008] 1 1 q32 205344230 205384940 + 207277607 207318317 + 1580863;5129484;6480464;6907045 20510197 16330538;18029348;14718574;19344414;19155499;19076829;18842294;18715646;18556068;18424762;18406463;17579075;17548110;16819837;16335952;15489334;15188402;15179322;12893820;12477932;12135356;11705989;11441101;10383431;9089100;8406448;7806286;7772049;7592941;6222381;4033666;3840370;3378624;3017751;2590215;2352933;2237642;1989602;1833851;12100475;10744423;1534488;9628846;20532227;17225862;19417080;19423540;19494311;20022381;20059470;20212171;20237496;20406964;20438785;21262398;22732096;22925928;21988832;23274142;23390292;21659506;22333221;21915248 722 A6PVY5;F2Z2V7;P04003;Q5VVQ8 ABBA01048247;AK303793;AK303798;AK313164;AL445493;AMYH01001680;BC022312;BQ019292;CH471100;M31452;M62448;M62486;NG_029579;NM_000715;X02865;X04284;X04296;X07853 AAA36506;AAA36507;AAH22312;ABM82947;ABM86139;BAG35982;BAG64750;BAG64753;CAA26617;CAA27839;CAA30701;CAB51244;EAW93500;EAW93501;EAW93502;EAW93503;NP_000706;P04003 Hs.1012 1644105;1692290;1760241;2113122;2167273;2187286;2217088 AL034030;C4BPA_2902;D1S3036;D1S3704;SHGC-132542;SHGC-35696;SHGC-76272 C4BP;PRP C4b binding protein, alpha chain;C4b-binding protein alpha chain;OTTHUMP00000034376;complement component 4 binding protein, alpha chain;complement component 4-binding protein, alpha;proline-rich protein APPROVED protein-coding ENSG00000123838 1325 00403 120830 REVIEWED 1602474 C4orf19 chromosome 4 open reading frame 19 4 4 4 p14 37895413 38034606 + 37131947 37271527 + 37455552 37595132 + 6480464 16344560;15342556;14702039;12477932;8125298;20379614;20802204 55286 D6RFF1;Q8IY42 ABBA01074302;ABBA01074303;ABBA01074304;ABBA01074305;ABBA01074306;ABBA01074307;ABBA01074308;AC022463;AC027607;AI050941;AK001879;AK225192;AMYH01014111;BC037906;BP220791;CF995148;CH471069;DA684897;NM_001104629;NM_018302 AAH37906;BAA91958;EAW92882;EAW92883;NP_001098099;NP_060772;Q8IY42 Hs.107527 1716467;1750613;2118437;2132421;2137939;2141024 D4S2544E;D4S745;RH121413;SHGC-111906;SHGC-59841;SHGC-67963 FLJ11017 OTTHUMP00000158731;OTTHUMP00000158732;hypothetical protein LOC55286;uncharacterized protein C4orf19 protein-coding 25618 07725 VALIDATED 736875 C4BPB complement component 4 binding protein, beta This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants. [provided by RefSeq, Jul 2008] 1 1 q32 205328835 205339961 + 207262212 207273338 + 1580863;6480464;6484113;6907045 8325877;14718574;19344414;19284503;18842294;17597997;16710414;16335952;16330538;15967823;15489334;15179322;14702039;12492479;12477932;12193728;9089100;8598458;7561113;2970465;2300577;2237642;19423540;19494311;20212171;20237496;20379614;20406964;20438785;20693287;21856004;21963094;23390292;22514678 725 E7EQT9;P20851;Q5VVQ7 ABBA01048247;AK092427;AK293379;AK315137;AL445493;AMYH01001680;BC005378;BG568018;BM987840;CH471100;EF613556;H63461;L11245;L11246;M29964;NG_029386;NM_000716;NM_001017364;NM_001017365;NM_001017366;NM_001017367;U31765 AAA35616;AAB59520;AAH05378;ABQ52216;ADZ15873;BAG56891;EAW93504;EAW93505;EAW93506;NP_000707;NP_001017364;NP_001017365;NP_001017366;NP_001017367;P20851 Hs.99886 1687630;1742401;2163927;2169990;2180368;2186392;5019759;5037552;5106339;5121082 A009P34;D1S3277;D8S2279;G32746;GDB:196645;RH36383;RH46587;RH68537;RH69004;SHGC-76271 C4BP C4b binding protein, beta chain;C4b-binding protein beta chain;OTTHUMP00000034288;OTTHUMP00000034289;OTTHUMP00000034374;OTTHUMP00000034375;complement component 4 binding protein, beta chain;complement component 4-binding protein, beta APPROVED protein-coding ENSG00000123843 1328 00404 120831 REVIEWED 1606121 C4orf22 chromosome 4 open reading frame 22 4 4 4 q21.21 78550408 79177954 + 81475898 82103928 + 81256874 81884910 + 18519826;12477932;20379614;21832049;23251661 255119 E7EPK2;G5E9Y8;Q6V702 ABBA01063403;ABBA01063404;ABBA01063405;ABBA01063406;ABBA01063407;ABBA01063408;ABBA01063409;ABBA01063410;ABBA01063411;AC021127;AC093876;AC093883;AC098822;AC105917;AI650567;AK128642;AMYH01014344;AMYH01014345;AMYH01014346;AMYH01014347;AMYH01014348;AMYH01014349;AY349359;BC034296;CH471057;DB522959;NM_001206997;NM_152770 AAH34296;AAQ56723;ABM84123;ABM84124;ABM87151;ABM87152;ABM87153;ABM87533;ABM87534;BAC87545;EAX05861;EAX05862;EAX05863;EAX05864;EAX05865;NP_001193926;NP_689983;Q6V702 Hs.527104 1662962;1688867;1710464;1725541;1737535;1751151;1755371;1762285;1774513;2122984;2164750 D4S1130;D4S2690;D4S3208;RH119169;RH94079;SHGC-105105;SHGC-142252;SHGC-146136;SHGC-51338;SHGC-86246;SHGC4-1672 MGC35043 OTTHUMP00000160797;OTTHUMP00000219240;hypothetical protein LOC255119;uncharacterized protein C4orf22 protein-coding ENSG00000197826 28554 14597 VALIDATED 1602323 C4orf21 chromosome 4 open reading frame 21 4 4 4 q25 110754552 110852228 - 113730235 113777505 - 113460489 113558151 - 6480464 17974005;17081983;16344560;15146197;14702039;12477932;11181995;8889548;20332099;21832049;21906983 55345 B4DSN6;D6RB47;D6REN9;D6REQ7;E9PDE1;G3XAL8;G5EA02;I3L0G6;Q6ZU11;Q86YA3 ABBA01063816;AC023886;AC106864;AK002193;AK090556;AK126054;AK299831;AK302613;AL137700;AL708767;AMYH01014469;BC028584;BC044799;BF056790;BM721145;BX647594;CH471057;CN297341;DA199760;DB219969;NM_018392 AAH44799;BAA92130;BAC86416;BAG52184;BAG61698;BAG63860;CAB70881;EAX06279;EAX06280;EAX06281;NP_060862;Q6ZU11;Q86YA3 Hs.380346;Hs.713663 1750007;1785180;2173151 D4S1143;SHGC-111707;SHGC-70129 DKFZp313L226;DKFZp434C0927;FLJ11331;FLJ33237;FLJ44066 OTTHUMP00000163825;OTTHUMP00000218236;OTTHUMP00000219764;prematurely terminated mRNA decay factor-like protein-coding ENSG00000138658 25654 08562 VALIDATED 1604986 C4orf26 chromosome 4 open reading frame 26 Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during amelogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012] 4 4 4 q21.1 73777392 73786055 + 76700282 76708951 + 76481258 76491103 + 12477932;22658654;22901946 152816 D6RFW7;Q17RF5 ABBA01063344;AC096759;AK074237;AK172776;AK300227;AMYH01014305;BC061701;BC117342;BC144003;BC144005;BX377852;CH471057;HC006960;NG_032974;NM_001206981;NM_001257072;NM_178497;NR_046429;NR_046430;R32248 AAI17343;ADR82804;BAB85027;BAD18758;BAG61995;CBH19285;EAX05738;EAX05739;NP_001193910;NP_001244001;NP_848592;Q17RF5 Hs.24510 2123427;2128837;5037552 D8S2279;G16705;SHGC-50699 FLJ23657;FLJ23937;FLJ53097;MGC150951 OTTHUMP00000160597;OTTHUMP00000219249;hypothetical protein LOC152816;uncharacterized protein C4orf26 protein-coding ENSG00000174792 26300 08040 614829;614832 REVIEWED 1352720 C4orf17 chromosome 4 open reading frame 17 4 4 4 q23 97729579 97760871 + 100651223 100682483 + 100432161 100463460 + 15489334;14702039;12477932;11230166;16169070;16344560;23455924;23568457;23319000;8125298 84103 D6RHU4;Q53FE4;Q8NA78 ABBA01063673;AC083902;AK093085;AK223345;AK314711;AL136838;AMYH01014420;AMYH01014421;AP001960;BC069805;BC074759;CH471057;CR533542;DB051883;NM_032149 AAH69805;AAH74759;BAC04048;BAD97065;BAG37256;CAB66772;CAG38573;EAX06102;EAX06103;NP_115525;Q53FE4 Hs.97501 1686814;1764301;1785040 RH98528;SHGC-147917;SHGC-154039 DKFZP434G072 OTTHUMP00000161654;OTTHUMP00000220331;hypothetical protein LOC84103;uncharacterized protein C4orf17 protein-coding ENSG00000138813 25274 12825 VALIDATED 1604909 C4orf40 chromosome 4 open reading frame 40 4 4 4 q13.3 68377867 68390293 + 71054493 71066915 + 71019904 71032326 + 16381901;15489336;11230166;11076863 401137 D6RGD6;H0Y8Q8;Q6MZM9 ABBA01022925;AC104811;AMYH01014273;BX484937;BX485867;BX640892;BX640924;BX640997;BX647183;BX647185;BX648724;BX648872;BX648895;BX648896;NM_214711 AAI46697;CAE45962;CAE46000;CAH56124;CAH56126;CAL38348;NP_999876;Q6MZM9 Hs.518795 OTTHUMP00000159768;OTTHUMP00000218951;hypothetical protein LOC401137;uncharacterized protein C4orf40 protein-coding 33193 14222 VALIDATED 1604791 C4orf29 chromosome 4 open reading frame 29 4 4 4 q28.2 126267834 126333840 + 129105911 129171918 + 128886461 128952468 + 6480464 12477932;21890473 80167 B7WP89;D6R9K9;D6RD85;D6RGX5;Q0P651 ABBA01044799;ABBA01044800;ABBA01044801;ABBA01044802;ABBA01044803;ABBA01044804;AC099340;AK024759;AMYH01014509;BC034253;BC058847;BC058898;BC075793;BC111400;BC128142;BC128143;BX500590;CH471056;NM_001039717 AAH34253;AAI28143;AAI28144;BAB14990;EAX05189;EAX05190;EAX05191;EAX05192;NP_001034806;Q0P651 Hs.445817 1644249;1661184;1700200;1776277;5015961;5016478 D15S1477;GDB:434012;RH103716;RH36511;RH46171;STS-H40321 FLJ21106;MGC149227;MGC149228 OTTHUMP00000164426;hypothetical protein LOC80167;uncharacterized protein C4orf29 protein-coding ENSG00000164074 26111 07953 PREDICTED 1602179 C4orf45 chromosome 4 open reading frame 45 4 4 4 q32.1 157155716 157297403 - 160034134 160175783 - 159814684 159956333 - 6480464 16344560;15342556;20379614 152940 Q96LM5 ABBA01070211;ABBA01070212;ABBA01070213;ABBA01070214;ABBA01070215;ABBA01070216;AC093700;AC109823;AK058100;AK307319;AMYH01014646;AMYH01014647;BP369394;CH471056;DB037602;NM_152543 AAI72327;BAB71665;EAX04851;NP_689756;Q96LM5 Hs.415576 1684174;1684977;1714541;1761351;1770240;1785200;1855485;2154113;2172373;2185339 C027ZB9;RH119783;RH45922;SHGC-145362;SHGC-25153;SHGC-67962;SHGC-68047;SHGC-68119;SHGC-84316;STS-Z41140 FLJ25371 OTTHUMP00000220951;hypothetical protein LOC152940;uncharacterized protein C4orf45 protein-coding 26342 08058 VALIDATED 1606274 C4orf27 chromosome 4 open reading frame 27 4 4 4 q33 167983601 168012093 - 170887194 170915668 - 170650619 170679093 - 6480464 11256614;16381901;15489336;14702039;12477932;11230166;11076863;16169070;19505873;20379614;16712791;21139048;22505724 54969 Q9NWY4 ABBA01070342;ABBA01070343;AC106878;AK000541;AK090742;AK124036;AL136673;AMYH01014704;BC010367;BM905677;CB141427;CH471056;DN990093;NM_017867 AAH10367;BAA91241;CAB66608;CAL37758;EAX04780;EAX04781;NP_060337;Q9NWY4 Hs.406756 5124063 RH41158 FLJ20534;FLJ33423;FLJ42042 OTTHUMP00000219418;UPF0609 protein C4orf27;hypothetical protein LOC54969 protein-coding ENSG00000056050 26051 07924 VALIDATED 1604907 C4orf3 chromosome 4 open reading frame 3 4 4 4 q26 117579164 117587192 - 120437022 120441416 - 120217574 120225600 - 6480464 16344560;16174453;15146197;12477932;8889548;20332099;17207965 401152 Q8WVX3 ABBA01044706;AC092656;AF075061;AK024537;AK025703;AMYH01014484;AY605045;BC017399;BU739784;CH471229;CN361054;DA353224;NM_001001701;NM_001170330 AAH17399;AAT35812;ADQ32691;EAW73665;NP_001001701;NP_001163801;Q8WVX3 Hs.741263 1664849;1674210;2132898;2164525 SHGC-32100;SHGC-59293;SHGC-59810;SHGC-59853 HCV F-transactivated protein 1;OTTHUMP00000220063;OTTHUMP00000223700;hepatitis C virus F protein-transactivated protein 1;hypothetical protein LOC401152;uncharacterized protein C4orf3 APPROVED protein-coding 19225 14223 VALIDATED 1601935 C4orf33 chromosome 4 open reading frame 33 4 4 4 q28.2 127396845 127415860 + 130234279 130253293 + 130014829 130033843 + 6480464 17567985;14702039;12477932 132321 D6RD26;D6RIS3;D6RIT3;Q8N1A6 ABBA01044830;AC093826;AK091022;AK309229;AMYH01014515;BC016358;BC032582;BE566349;BP871612;BQ549846;BU783470;BX538164;CH471056;CN483524;NM_001099783;NM_173487 AAH16358;AAH32582;BAC03568;CAD98044;EAX05161;EAX05162;EAX05163;EAX05164;EAX05165;EAX05166;NP_001093253;NP_775758;Q8N1A6 Hs.567679 1654948;1715143;2127735 D4S2553E;RH119524;SHGC-32420 FLJ33703 OTTHUMP00000164486;OTTHUMP00000220026;OTTHUMP00000220994;UPF0462 protein C4orf33;hypothetical protein LOC132321 protein-coding ENSG00000151470 27025 14049 VALIDATED 2974931 C4orf51 chromosome 4 open reading frame 51 4 4 4 q31.21 143928891 143981824 + 146820806 146873399 + 146601356 146653949 + 646603 C9J302;H0Y9W7 ABBA01070034;ABBA01070035;ABBA01070036;ABBA01070037;AC093864;AC107212;AMYH01014595;AMYH01014596;AMYH01014597;AMYH01014598;AMYH01014599;NM_001080531 C9J302;NP_001074000 Hs.452865 1763465 SHGC-147171 OTTHUMP00000220285;chromosome 4 open reading frame 51;uncharacterized protein C4orf51 protein-coding ENSG00000237136 37264 INFERRED 1606723 C4orf32 chromosome 4 open reading frame 32 4 4 4 q25 110359983 110403664 + 113286127 113329678 + 113066553 113110237 + 6480464 19380854;18437351;14702039;12477932;20332099;21139048;21906983;19322201;21963094;23349771 132720 Q8N8J7 ABBA01063814;AC093663;AC109347;AI634637;AK096689;AMYH01014468;BC022534;BC041964;BI463956;CH471057;NM_152400 AAH22534;AAY40961;BAC04841;EAX06266;NP_689613;Q8N8J7 Hs.23439 1644452;1724937;2125262;2168628;2172618;2181379 D4S2449;RH119235;SHGC-18154;SHGC-36541;SHGC-50578;SHGC-60034 FLJ39370 OTTHUMP00000163750;chromosome 4 open reading frame 32;uncharacterized protein C4orf32 protein-coding ENSG00000174749 26813 08252 VALIDATED 1606159 C4orf36 chromosome 4 open reading frame 36 4 4 4 q21.3 85086805 85103009 - 88016382 88032599 - 87797358 87813575 - 6480464 15489334;15342556;14702039;12477932;20379614;23568457 132989 D6RAE1;D6RCP1;D6RF10;D6RGW9;Q96KX1 ABBA01063513;AC093827;AMYH01014371;BC016746;BC063410;BP289794;BX090513;CH471057;NM_144645 AAH16746;EAX05970;NP_653246;Q96KX1 Hs.339646 MGC26744 OTTHUMP00000161171;OTTHUMP00000219442;OTTHUMP00000219445;OTTHUMP00000219447;hypothetical protein LOC132989;uncharacterized protein C4orf36 protein-coding ENSG00000163633 28386 14511 VALIDATED 2301122 C4orf48 chromosome 4 open reading frame 48 4 4 4 p16.3 1955927 1957904 + 2013487 2015495 + 2043720 2045697 + 6480464 15809229;12477932;21287218 401115 Q5BLP8 ABBA01029524;AI929674;AL132868;AMYH01013873;AW157771;AY947524;BC038466;BC047038;BC062790;BQ129383;CH471131;NM_001141936;NM_001168243 AAX21785;EAW82542;EAW82543;NP_001135408;NP_001161715;Q5BLP8 Hs.446474 1745935 G64299 CHR4_55 OTTHUMP00000205822;OTTHUMP00000205823;hypothetical protein LOC401115;neuropeptide-like protein C4orf48 protein-coding ENSG00000243449 34437 614690 VALIDATED 1606430 C4orf46 chromosome 4 open reading frame 46 This gene encodes a small, conserved protein of unknown function that is expressed in a variety of tissues. There are pseudogenes for this gene on chromosomes 6, 8, 16, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013] 4 4 4 q32.1 156928857 156934241 - 159807279 159896209 - 159587831 159593202 - 6480464 16344560;16303743;14702039;12477932;21832049;19322201;8889548 201725 D6RFF4;Q504U0 ABBA01070208;AC107219;AK027539;AK074948;AK311718;AMYH01014643;AMYH01014644;BC065017;BC094775;BI823282;BU688970;CH471056;CQ783770;DB289388;NG_033150;NM_001008393;NR_077234;NR_077235 AAH65017;AAH94775;BAG51339;BAG52038;CAF86853;EAX04855;NP_001008394;Q504U0 Hs.380920;Hs.735449 1688953;1775993;1807560;2048086;2048090;2104522;2141686;2162072;5113271 ECD04752;REN95180;REN95182;RH41930;RH93633;SHGC-33796;STS-T95868;STS-W61113;stSG608963 OTTHUMP00000220837;OTTHUMP00000221325;hypothetical protein LOC201725;uncharacterized protein C4orf46 protein-coding ENSG00000205208 27320 17319 VALIDATED 1343214 C5orf10 chromosome 5 open reading frame 10 170747 17703 2298813 C4orf47 chromosome 4 open reading frame 47 4 4 4 q35.1 183676735 183698471 + 186584397 186607976 + 186350545 186370821 + 6480464 15809229;15489334;12477932;20379614 441054 A7E2U8;D6R9T4;D6RB10;D6RCA9 ABBA01070532;AC106897;AMYH01014774;AMYH01014775;AY947525;BC127739;BC141967;BC141968;BC150574;NM_001114357 A7E2U8;AAI50575;AAX21786;NP_001107829 Hs.549398 2145706;5094798 ATT077P;STS-H64141 OTTHUMP00000218242;UPF0602 protein;UPF0602 protein C4orf47;hypothetical protein LOC441054 protein-coding ENSG00000205129 34346 PREDICTED 1602802 C4orf50 chromosome 4 open reading frame 50 4 4 4 p16.2 5858375 5889687 - 6009746 6041067 - 5958839 5990166 - 12477932;20379614 389197 E9PNW5;Q6ZRC1 ABBA01008269;AC092442;AK128339;AMYH01013910;AMYH01013911;BC140710;XM_003118524;XM_003119922;XM_003960335 AAI40711;BAC87391;Q6ZRC1;XP_003118572;XP_003119970;XP_003960384 Hs.479065 2121648;2143697;2164255 SHGC-24741;SHGC-59715;STS-Z40860 FLJ46481 OTTHUMP00000195600;chromosome 4 open reading frame 50;hypothetical protein LOC389197;uncharacterized protein C4orf50 protein-coding ENSG00000181215 33766 13538 MODEL 7246716 C5orf17 chromosome 5 open reading frame 17 6480464 14702039;22379092 439936 Q8NAS9 ABBA01066620;AC026784;AC108093;AK092155;AMYH01014973;BI198197;BQ950913;DQ323997;XR_132502;XR_133395;XR_171491 ABC88599;Q8NAS9 Hs.638078 protein-coding ENSG00000248874 26630 MODEL 735934 C5 complement component 5 The protein encoded by this gene is the fifth component of complement, which plays an important role in inflammatory and cell killing processes. This protein is comprised of alpha and beta polypeptide chains that are linked by a disulfide bridge. An activation peptide, C5a, which is an anaphylatoxin that possesses potent spasmogenic and chemotactic activity, is derived from the alpha polypeptide via cleavage with a convertase. The C5b macromolecular cleavage product can form a complex with the C6 complement component, and this complex is the basis for formation of the membrane attack complex, which includes additional complement components. Mutations in this gene cause complement component 5 deficiency, a disease where patients show a propensity for severe recurrent infections. Defects in this gene have also been linked to a susceptibility to liver fibrosis and to rheumatoid arthritis. [provided by RefSeq, Jul 2008] 9 9 q33-q34 122754434 122852375 - 123714613 123812554 - 1600637;1600651;1600652;1600655;1600599;1580863;1600658;1600665;1600666;1600592;1600597;5129512;5130153;5130158;5130162;5130159;5130160;5129681;5130180;5130161;5129688;5130175;5129705;5130170;5130154;5130150;5129706;5130168;5129707;6480464;6907045;7240710 12355496;11591795;11422211;11136932;14688199;10486240;10188960;9631876;15995705;15158333;15278436;3826891;10973279;3540828;7814608;2612053;20802484;10516626;3631740;17079327;20975959;20500690;18648551;3985125;3264125;20143644;11292607;17975174 20880552;22258234;8898085;10820279;9590258;7649993;8759757;3052276;9218605;19479237;19416238;19401279;19375167;19344414;19336421;19324972;19265162;19263529;19258923;19247692;19230171;19225544;19180477;19131662;19116907;19110536;19028820;18974840;18759306;18714034;18644651;18576341;18411281;18300128;18039528;17880261;17804836;17703412;17644516;17634448;17533009;17505301;17498719;17482181;17428459;17322907;17023413;16879222;16823297;16670089;16335952;15879120;15778377;15598652;15585680;15550394;15488949;15383587;14662858;14556080;12937147;12881318;12878586;12488432;12477932;11752456;11367533;10352266;9553099;9188742;9007977;8889548;8702752;8175701;7835913;7730648;7661861;3624872;3408713;3365401;2808363;2784981;2730871;2579066;1996961;1984448;1387399;690134;106884;8630395;7911492;11939578;15768031;20424189;22802338;14566334;16452172;18240029;1847994;19162005;19414197;19423540;19503088;19559392;19565500;19674979;19729601;19741008;19843088;19864026;19902201;19909405;19918040;19948975;20022638;20030635;20049410;20109314;20124699;20133685;20205706;20219786;20233754;20237496;20353580;20406964;20438785;20444755;20479942;20498205;20503287;20453842;20545943;20591742;20797713;20822712;20962850;18953960;19913121;20536507;20603037;20628086;22812419;20813982;22820624;22244896;22452399;21926466;22308306;22528500;23071133;21393613;22284611;22496247;22500023;23028051;23401592;21890473;23321589 727 P01031 AB209031;ABBA01016235;ABBA01016236;ABBA01016237;ABBA01016238;ABBA01016239;AC006430;AK310774;AK310780;AMYH01021691;AMYH01021692;AV682721;BC022299;BC113738;BC113740;BG533927;CB250401;CH471090;DQ400449;M57729;M65134;NG_007364;NM_001735;T82068 AAA51856;AAA51925;AAB35171;AAI13739;AAI13741;ABD48959;BAD92268;EAW87480;NP_001726;P01031 Hs.494997 1657620;1795206;1851945;1852909;2186007;2217090 C5_001;C5_3095;D9S2050;G29157;SHGC-52622;WI-12734 C5a;C5b;CPAMD4;FLJ17816;FLJ17822;MGC142298 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4;C5a anaphylatoxin;OTTHUMP00000022001;anaphylatoxin C5a analog;complement C5;prepro-C5 APPROVED protein-coding ENSG00000106804 1331 00405 120900;609536 REVIEWED 1350810 C5AR1 complement component 5a receptor 1 19 19 q13.3-q13.4 52504944 52517167 + 47813104 47825327 + 1580863;5130168;5130169;5129704;5130170;5129559;5129560;5130177;5130166;5129564;1600652;5129681;5129561;5129702;1600597;5130167;5130165;5130180;5130176;6480464;6907045 11292607;19050293;5129564;18648551;17544263;12759460;16511606;21421909;11422211;20802484;15940127;15159277;15158333;14718840;19926870;10516626;12897064 22187344;10352266;7649993;8779720;8702752;9590258;2007135;19344414;19333232;19324972;19308263;19251703;19005416;18772131;18753257;18538384;18187666;17804836;17724165;17234193;17199736;17135254;17090530;17068344;17023413;16879222;16778800;16301808;15944400;15550394;15489334;15485893;15278436;15144465;15128829;15039137;14570896;12794141;12651630;12477932;12464600;12453150;12091343;11773063;11733378;11705397;11342590;10963136;9553099;8759762;8573284;8383526;7962171;7642584;7521884;1847994;1612600;2541200;10597774;15768031;22608366;20500690;20473571;19864971;12600272;17322907;18240029;19423540;19464229;19657723;19789190;20044484;20406964;20438785;20484595;16341674;21292772;23041570;21628869;21613290;22244896;22496247;22441801;21963094;23479227;22960554;23402022 728 M0QZK7;P21730 ABBA01041024;ABBA01041025;AC099491;AMYH01009883;AY221091;BC008982;BE042476;BI916506;BM830753;BT007358;CH471126;M62505;NM_001736;S56557;X57250;X58674 AAA62831;AAD14919;AAH08982;AAO65969;AAP36022;ABM82683;ABM85866;CAA40530;CAB37830;EAW57470;EAW57471;NP_001727;P21730 Hs.2161 1741855;1795204 C5R1_STS1;GDB:185765 C5A;C5AR;C5R1;CD88 C5a anaphylatoxin chemotactic receptor;C5a anaphylatoxin chemotactic receptor 1;C5a anaphylatoxin receptor;C5a ligand;C5a-R;complement component 5 receptor 1;complement component 5 receptor 1 (c5a ligand) protein-coding ENSG00000197405 1338 00224 113995 VALIDATED 1350555 C4orf6 chromosome 4 open reading frame 6 This gene is expressed in neuroblastoma; however, the function of this gene is not yet determined. [provided by RefSeq, Jul 2008] 4 4 4 p16.2 5424543 5427188 + 5577784 5580429 + 5526883 5529528 + 6480464 9016955;18454448;15489334;12477932;8889548 10141 H0Y9I1;Q99440 ABBA01008259;AC004664;AMYH01013906;BC117444;BC117446;BM978917;BX094519;CH471131;D82070;NM_005750 AAI17445;AAI17447;ADR83316;BAA11534;EAW82415;NP_005741;Q99440 Hs.177972 2139182 RH68303 aC1 OTTHUMP00000155146;OTTHUMP00000217284;chromosome 4 open reading frame 6;expressed in neuroblastoma;uncharacterized protein C4orf6 APPROVED protein-coding ENSG00000082929 13716 12826 REVIEWED 1354173 C5AR2 complement component 5a receptor 2 This gene encodes a G-protein coupled receptor 1 family member involved in the complement system of the innate immune response. Unlike classical G-protein coupled receptors, the encoded protein does not associate with intracellular G-proteins. It may instead modulate signal transduction through the beta-arrestin pathway, and may alternatively act as a decoy receptor. This gene may be involved in coronary artery disease and in the pathogenesis of sepsis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 19 19 q13.33 52532211 52537112 + 47840371 47845272 + 1580863;6480464 17158873;17068344;16204243;15833747;15634936;15489334;14570896;12540846;12477932;11773063;11165367;11090875;22194190;22180093;22187344;17322907;19100624;19615750;19767107;20044484;21698200;21630250;23239822;15342556;16344560;22441801;22496247;22812419;22960554 27202 Q6NWR0;Q9P296 AB038237;ABBA01041026;AC008754;AC099491;AF317655;AK313994;AMYH01009883;AY268430;BC067477;BC067478;BC067479;BC067480;BP370117;CH471126;CS173027;DA673976;NM_001271749;NM_001271750;NM_018485 AAH67477;AAH67478;AAH67479;AAH67480;AAK12640;AAP23197;BAA95414;BAG36706;CAJ33695;EAW57472;NP_001258678;NP_001258679;NP_060955;Q9P296 Hs.534412 1797656 GPR77_2341 C5L2;GPF77;GPR77 C5a anaphylatoxin chemotactic receptor 2;C5a anaphylatoxin chemotactic receptor C5L2;G protein-coupled receptor 77;G protein-coupled receptor C5L2;G-protein coupled receptor 77 APPROVED protein-coding ENSG00000134830 4527 17072 609949 REVIEWED 1605576 C5orf20 chromosome 5 open reading frame 20 This intronless gene is specifically expressed in dendritic cells (DCs), which are potent antigen-presenting cells involved in activating naive T cells to initiate antigen-specific immune response. The encoded protein is localized mainly in the perinucleus. One of the alleles (A/T) of this gene, that causes premature translation termination at aa 117, has been associated with an increased prevalence of major depression in humans. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 130903693 130906827 - 134807803 134810937 - 134779904 134783038 - 6480464 11181995;17460725;16189510;15489334;12477932;11798177;10737800;20351714;17207965;20693543 140947 Q8TF63 AB074498;ABBA01068727;AC022092;AMYH01015628;BC069608;BC069610;BC074831;BC074832;BC117156;BC117158;CH471062;NM_130848 AAH69608;AAH69610;AAH74831;AAH74832;ADQ32916;BAB84585;EAW62216;NP_570900;Q8TF63 Hs.152477 1677780;5492697;5493393;5494041 RH93048;UniSTS:480796;UniSTS:482053;UniSTS:485969 DCNP1 OTTHUMP00000223506;dendritic cell nuclear protein 1 APPROVED protein-coding ENSG00000251380 24459 16786 609710 REVIEWED 1321206 C5orf15 chromosome 5 open reading frame 15 5 5 5 q31.1 129414883 129428091 - 133319100 133332377 - 133291198 133304406 - 6480464 12477932;9110174;8889548;8619474;18951430;16303743;15489334;15342556;14702039;12752121;21832049;21139048;21890473;21906983;19322201;22505724 56951 B4DPV8;Q8NC54 ABBA01068770;AC025177;AF035313;AF226055;AK074963;AK298515;AK315362;AMYH01015621;AY157581;BC020875;BM681428;BP245947;CH471062;CS300550;NM_020199 AAF86955;AAH20875;AAO13165;ABM82948;ABM86140;BAC11319;BAG37757;BAG60720;CAK32214;EAW62287;EAW62288;NP_064584;Q8NC54 Hs.744034 2128802;2133865;5092736 A005V24;G32296;RH35974 HTGN29;KCT2 OTTHUMP00000159392;keratinocyte-associated transmembrane protein 2;keratinocytes associated transmembrane protein 2 protein-coding ENSG00000113583 20656 12829 VALIDATED 2303887 C5orf27 chromosome 5 open reading frame 27 5 5 5 q15 91066688 91074592 + 95213695 95221593 + 95187936 95195837 + 6480464 14702039;12477932 202299 Q52M75 ABBA01069245;AC008592;AK096140;AK314737;AMYH01015490;AW206457;AY168789;BC093643;BC101577;CH471084;NR_026936 AAO25675;BAG37278;EAW96058;EAW96059;Q52M75 Hs.8373 1767463;2107099 A004D35;FIS__6724 FIS;FLJ38821;MGC126626 miscrna ENSG00000236882 24687 16896 VALIDATED 1605291 C5orf24 chromosome 5 open reading frame 24 5 5 5 q31.1 130309065 130323730 + 134209269 134222687 + 134181370 134195425 + 6480464 16344560;14702039;12477932;17207965;21890473 134553 H0YAE0;Q7Z6I8 ABBA01068736;AC006077;AJ437658;AK094881;AMYH01015626;BC045567;BC053677;BX640771;BX648529;CH471062;DA760705;NM_001135586;NM_152409 AAH53677;ADQ32595;BAC04448;CAD26900;EAW62234;EAW62235;EAW62236;NP_001129058;NP_689622;Q7Z6I8 Hs.743453 1699608;1785664;2116355;2175101;5091871 A007F30;RH103405;RH47430;SHGC-64770;STS-N26241 FLJ37562 OTTHUMP00000159384;OTTHUMP00000223106;OTTHUMP00000223108;OTTHUMP00000223109;UPF0461 protein C5orf24;hypothetical protein LOC134553 protein-coding ENSG00000181904 26746 08226 VALIDATED 1605070 C5orf22 chromosome 5 open reading frame 22 5 5 5 p13.3 31412843 31435644 + 31568158 31590043 + 31532373 31555165 + 6480464 16344560;16189514;14702039;12477932;8889548;8619474;9110174;21139048;21890473;21906983;19322201;22053931 55322 B4DR92;E5RFG1;E5RHP8;Q49AR2 ABBA01066717;AC022417;AF038176;AF085882;AI300780;AK002055;AK074385;AK299156;AL834427;AMYH01014993;AV710784;BC021215;BC032845;BM683466;CH471118;DA783320;DC404356;NM_018356 AAH21215;AAH32845;BAA92060;BAG61204;CAD39088;EAX10771;EAX10772;EAX10773;EAX10774;NP_060826;Q49AR2 Hs.519246 1654744;1739643;2127965;2176814;5095034 C5orf22;D5S1928E;G31097;RH36313;RH79023 DKFZp667N066;FLJ11193;FLJ23805;MGC33010 OTTHUMP00000161701;UPF0489 protein C5orf22;hypothetical protein LOC55322 protein-coding ENSG00000082213 25639 07740 VALIDATED 1606242 C5orf23 chromosome 5 open reading frame 23 5 5 5 p13.3 32670577 32673451 + 32824702 32827576 + 32788945 32791819 + 11256614;15489334;14702039;12477932;19913121;20628086;19570815 79614 AC026703;AK024116;BC022250;CH471118;NM_024563 AAH22250;BAB14832;EAX10800;NP_078839;Q9H7Z1 Hs.13528 FLJ14054 hypothetical protein LOC79614 protein-coding 25861 08593 1602449 C5orf30 chromosome 5 open reading frame 30 5 5 5 q21.1 98542288 98562209 + 102622341 102642260 + 102594442 102614361 + 6480464 14702039;12477932;9110174;8619474;20453842;22085962;19322201 90355 Q96GV9 ABBA01069145;AC011362;AF038182;AK058020;AK090558;AMYH01015516;BC009203;CH471086;NM_033211 AAH09203;ADZ15830;BAC03478;EAW49075;NP_149988;Q96GV9 Hs.482976 1699666;1854441;2115251;2173992;2173994;2173996;2173998 D5S1572E;RH103437;RH36330;RH47357;RH47369;SGC34527;WI-22600 FLJ25291 OTTHUMP00000158932;OTTHUMP00000222713;OTTHUMP00000222714;UNC119-binding protein C5orf30;UPF0684 protein C5orf30;hypothetical protein LOC90355 protein-coding ENSG00000181751 25052 12383 PROVISIONAL 1605053 C5orf28 chromosome 5 open reading frame 28 5 5 5 p12 43335476 43375118 - 43480111 43515847 - 43444354 43483992 - 6480464 16344560;15489334;14702039;12477932;21832049 64417 D6RAV6;E9PBX6;Q0VDI3;Q6GMT5 ABBA01024257;AC025457;AK025310;AK225220;AK315466;AL137306;AMYH01015057;BC013351;BC063832;BC073852;BC119658;BC119659;CH471119;DA028175;DA035926;NM_022483 AAH13351;AAH63832;AAH73852;AAI19659;AAI19660;BAB15108;BAG37853;EAW56061;EAW56062;EAW56063;EAW56064;NP_071928;Q0VDI3 Hs.732093 1656420;1850443;1852765;5024039;5037552;5119219 D16S325;D5S1925E;D8S2279;G30173;RH46937;SHGC-64113 FLJ21657;MGC149524;MGC90226 OTTHUMP00000161801;OTTHUMP00000221630;OTTHUMP00000221631;OTTHUMP00000221633;transmembrane protein C5orf28 protein-coding ENSG00000151881 26139 07965 VALIDATED 1606695 C5orf38 chromosome 5 open reading frame 38 5 5 5 p15.33 2784111 2787360 + 2805262 2808511 + 2752262 2755511 + 16515847;12477932 153571 B7ZL86;D6RBL9;Q86SI9 ABBA01010210;ABBA01010211;AC091891;AMYH01014869;AY249324;AY249325;BC101608;BC101634;BC143638;BC143639;BC143640;BC171731;CH471102;NM_178569 AAI01609;AAI01635;AAI43640;AAP15241;AAP15242;EAX08134;EAX08135;NP_848664;Q86SI9 Hs.668017 CEI;IRX2NB;MGC126657;MGC126683 IRX2 neighbor;OTTHUMP00000220678;OTTHUMP00000220682;OTTHUMP00000220683;OTTHUMP00000228970;coordinated expression to IRX2;coordinated expression to IRXA2 homeobox;coordinated expression to IRXA2 protein;protein CEI protein-coding ENSG00000186493 24226 16706 610522 PROVISIONAL 1601916 C5orf34 chromosome 5 open reading frame 34 5 5 5 p12 43377936 43406275 - 43522567 43550944 - 43486803 43515273 - 6480464 14702039;12477932;21987572;21906983 375444 E9PBC3;H0YAD0;Q96MH7 ABBA01024257;AC025457;AC114956;AK056925;AK303336;AMYH01015057;AMYH01015058;AW002049;BC036867;CH471119;DB453004;NM_198566 AAH36867;BAB71311;BAG64399;EAW56065;NP_940968;Q96MH7 Hs.661641;Hs.733375 FLJ32363;MGC46448 OTTHUMP00000161802;hypothetical protein LOC375444;uncharacterized protein C5orf34 protein-coding ENSG00000172244 24738 13407 VALIDATED 1605197 C5orf46 chromosome 5 open reading frame 46 5 5 5 q32 143353069 143366899 - 147252464 147266294 - 147272271 147286101 - 6480464 12975309;12477932 389336 Q6UWT4 ABBA01026321;AC011352;AK289403;AMYH01015693;AY358656;BC021680;NM_206966 AAH21680;AAQ89019;ADZ16057;BAF82092;NP_996849;Q6UWT4 Hs.660038 1653205 L28266 MGC23985 OTTHUMP00000223878;hypothetical protein LOC389336;uncharacterized protein C5orf46 protein-coding ENSG00000178776 33768 14491 VALIDATED 1606513 C5orf42 chromosome 5 open reading frame 42 The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012] 5 5 5 p13.2 36993297 37136467 - 37142087 37249612 - 37106330 37249530 - 6480464 14702039;12477932;21145461;17549794;20936779;10737800;15372022;22425360;21987572;22264561;20301500 65250 H0Y9I8;H0YA77;J9JIC9;Q9H799;R4GNH6 ABBA01024176;ABBA01024177;ABBA01024178;AC008925;AC025449;AK023293;AK024779;AK026735;AK055192;AK096581;AL832176;AL833065;AMYH01015029;AMYH01015030;AW996738;BC028410;BC074774;BC144069;BC144070;BC144072;BC150594;BX647602;BX649121;DB448866;DN831769;DW009792;DW009948;DW009949;DW009996;DW009997;DY655086;EG327639;NG_032772;NM_023073 AAH28410;AAH74774;AAI44070;AAI50595;BAB14513;BAB14999;BAB15539;BAC04822;NP_075561;Q9H799 Hs.586199 1660980;1670997;2130082;2155116;5014762 D5S2523;D5S2547;RH11888;RH36352;STS-W92787 DKFZp686K02105;FLJ13231;FLJ21126;JBTS17 OTTHUMP00000218308;OTTHUMP00000218309;OTTHUMP00000218310;Transmembrane protein ENSP00000382582;chromosome 5 open reading frame 42;hypothetical protein LOC65250;uncharacterized protein C5orf42 APPROVED protein-coding ENSG00000197603 25801 07822 614571;614615 REVIEWED 2298816 C5orf50 chromosome 5 open reading frame 50 5 5 q35.1 171145481 171166221 + 171201478 171233616 + 6480464 15372022;19197348;20379614;23509962;23028347;20881960 644994 A6NLE4;H0YC34 ABBA01044070;AC011410;AC022440;AMYH01015808;XM_003403786;XM_003960360;XM_928062 A6NLE4;XP_003403834;XP_003960409;XP_933155 1338328;1687405;1709288;1723581;1752075;2111478;2123053;2140233;7185386 D5S2366;D5S462;G16950;RH123244;RH45655;RH92339;SHGC-106017;SHGC-85842 chromosome 5 open reading frame 50;hypothetical protein LOC644994;uncharacterized protein C5orf50 protein-coding 34440 MODEL 1606005 C5orf45 chromosome 5 open reading frame 45 5 5 5 q35.3 174889422 174910994 - 179196872 179218446 - 179264266 179285840 - 6480464 16381901;15489336;15146197;14702039;12477932;11230166;11076863;17207965 51149 B7Z1T6;E5RGF8;E5RHV0;E5RHY8;E5RI52;E5RIC8;E5RIJ7;E5RJC6;E5RK98;E7EMV9;F6UWW1;F6XPR0;Q6NTE8 ABBA01010044;ABBA01010045;ABBA01010046;ABBA01010047;AC008393;AF153685;AK293901;AK298954;AMYH01015960;BC002739;BC050714;BC056889;BC069051;BF965313;BQ642639;BX537968;BX647375;CH471165;CN363239;CR936785;NM_001017987;NM_016175 AAD51611;AAH02739;AAH69051;ADQ32062;BAH11622;BAH12911;CAD97932;CAL37424;CAL38467;EAW53784;EAW53785;NP_001017987;NP_057259;Q6NTE8 Hs.741169 1740517;1740867;1776934;1856023;2108523;2120717;2130122;2154130;2162845;5015861;5020274;5020948;5021228;5022200;5022425;5037552;5037670;5112017;7185938 A002O27;A008T21;D10S16;D11S4452;D22S296;D3S4354;D5S2306E;D8S2279;G35510;G44365;GDB:312794;L18426;L18441;RH18060;RH70719;SHGC-33017;SQSTM1_8870;WI-22658 DKFZp686L2452;MGC65027;MGC78537 OTTHUMP00000224084;OTTHUMP00000224353;OTTHUMP00000224355;OTTHUMP00000224356;OTTHUMP00000224357;UPF0544 protein C5orf45;hypothetical protein LOC51149 protein-coding ENSG00000161010 30817 17420 VALIDATED 2298818 C5orf47 chromosome 5 open reading frame 47 5 5 5 q35.2 169448431 169465412 + 173333391 173365749 + 173416162 173433143 + 6480464 12477932 133491 Q569G3 ABBA01044015;AC093275;AC113423;AMYH01015831;BC034971;BC047225;BC053953;BC057842;BC066964;BC092489;BC121167;BC121168;CH471062;DB443869;NM_001144954 AAH34971;AAH92489;EAW61388;NP_001138426;Q569G3 Hs.131469 OTTHUMP00000223699;hypothetical protein LOC133491;uncharacterized protein C5orf47 protein-coding ENSG00000185056 27026 VALIDATED 1605198 C5orf48 chromosome 5 open reading frame 48 5 5 5 q23.2 121924031 121928585 + 125995313 125999873 + 125967414 125971974 + 12477932 389320 Q6ZNM6 ABBA01068900;AC099513;AK131015;AMYH01015600;BC130495;BC130497;CH471086;NM_207408 AAI30496;AAI30498;ADR82834;BAC85477;EAW48848;NP_997291;Q6ZNM6 Hs.177983 1684451 RH98376 FLJ27505;MGC163367;MGC163369 OTTHUMP00000159191;hypothetical protein LOC389320;uncharacterized protein C5orf48 protein-coding ENSG00000196900 33767 13399 PREDICTED 2303474 C5orf52 chromosome 5 open reading frame 52 5 5 5 q33.3 153125154 153133754 + 157098561 157107162 + 157098561 157107162 + 15489334;15372022 100190949 A6NGY3 ABBA01044264;AC008694;AI187821;AMYH01015748;BG721329;CH471062;NM_001145132 A6NGY3;EAW61592;NP_001138604 Hs.720862 1659144 RH65319 OTTHUMP00000205880;hypothetical protein LOC100190949;uncharacterized protein C5orf52 protein-coding ENSG00000187658 35121 VALIDATED 2298811 C5orf49 chromosome 5 open reading frame 49 5 5 5 p15.31 7872579 7892308 - 7884511 7904264 - 7830491 7851603 - 12477932;20379614 134121 A4QMS7;D6RHK3 ABBA01020576;AC010346;AMYH01014891;AMYH01014892;BC053548;BC062569;BC104204;BC104205;BC115361;CH471102;NM_001089584 A4QMS7;AAI04206;AAI15362;EAX08096;NP_001083053 Hs.709979 1675672 RH99110 OTTHUMP00000220815;OTTHUMP00000220816;hypothetical protein LOC134121;uncharacterized protein C5orf49 protein-coding ENSG00000215217 27028 VALIDATED 5132119 C5orf63 chromosome 5 open reading frame 63 5 5 5 q23.2 122507919 122538849 - 126411112 126435214 - 126378250 126409184 - 6480464 16344560 401207 A6NC05 ABBA01068884;AC004507;AC005915;AK126569;AMYH01015604;BQ269742;CH471062;DA507232;NM_001164478;NM_001164479 A6NC05;EAW62410;EAW62411;NP_001157950;NP_001157951 Hs.49573 1682015;1719097;2148124;2152932 RH123266;RH65981;RH93386;SGC32884 FLJ44606;YDR286C glutaredoxin-like protein C5orf63;glutaredoxin-like protein YDR286C homolog protein-coding ENSG00000164241 40051 VALIDATED 1606516 C5orf54 chromosome 5 open reading frame 54 5 5 5 q33.3 155852618 155859521 - 159752733 159759638 - 159820155 159827060 - 6480464 12477932;10607616;21900206;21890473;23533661 63920 Q8IZ13 AA728782;ABBA01044219;AC091842;AF205598;AK026754;AMYH01015760;BC032603;BC112128;BC112130;BM457021;BM903536;BQ959342;CH471062;NM_022090 AAF18452;AAH32603;AAI12129;AAI12131;BAB15542;EAW61557;EAW61558;EAW61559;EAW61560;NP_071373;Q8IZ13 Hs.529464 1644181;1646299;1691218 A007J26;D5S2666;RH93457 Buster3;ZBED8 OTTHUMP00000224268;protein ZBED8;transposon-derived Buster3 transposase-like protein;zinc finger BED domain-containing protein 8 protein-coding ENSG00000221886 30804 17430 615253 VALIDATED 1350608 C5orf9 chromosome 5 open reading frame 9 q31 415118 AI808255 Hs.124611 protein-coding 17924 2306473 C5orf55 chromosome 5 open reading frame 55 5 5 5 p15.33 539762 541405 - 494613 496210 - 441613 443258 - 12477932;16189514 116349 Q8N2X6 ABBA01034257;AC010442;AMYH01014826;BC014011;BC029796;NM_138464 AAH14011;AAH29796;NP_612473;Q8N2X6 Hs.446702 5014051 D8S2278 OTTHUMP00000221641;hypothetical protein LOC116349;uncharacterized protein C5orf55 protein-coding ENSG00000221990 25175 VALIDATED 1605775 C5orf56 chromosome 5 open reading frame 56 5 5 5 q31.1 127876758 127928158 + 131774572 131825958 + 131746465 131811736 + 14702039;22561531;20570966;12477932;18587394;21102463;19760754;20886065;20031576;20031577;23128233 441108 A6NHD6;B5MCK2;Q8N8D9 ABBA01068805;ABBA01068806;ABBA01068807;AC116366;AI377899;AK025221;AK096941;AK128882;AK129632;AK309191;AMYH01015615;BC130299;BC130656;BM998490;CH471062;CS072460;DC350817;DN991436;NR_045116 AAI30300;AAI30657;ADR83475;BAC04907;CAI93598;EAW62333;EAW62334;EAW62335;EAW62336;Q8N8D9 Hs.658288 1669682;1773548;1785420;1791554;1792798;1803044;1803114;1803452;1805262;1806444;1807810;1807944;1810180;1810464;1810466;1811368;1811688;1812078;1812560;1814178;1815312;1815680;1816614;1817912;1818420;1820652;1822512;1824624;1825426;1825656;1826492;1827296;1827860;1827960;1829820;1830176;1831418;1831730;1834440;1834774;1835728;1835926;1837184;1837290;1837860;1838414;1839068;1840942;1841188;1843886;1846278;1847177;1998426;1998428;1998430;1998432;1998434;1998436;1998438;1998440;1998442;1998444;1998446;1998448;1998450;1998452;1998454;1998456;1998458;1998460;1998462;1998464;1998466;1998468;1998470;1998472;1998474;1998476;1998478;1998480;1998482;1998484;1998486;1998488;1998490;1998492;1998494;1998496;1998498;1998500;1998502;1998504;1998506;1998508;1998510;1998512;1998514;1998516;1998518;1998520;1998522;1998524;1998526;1998528;1998530;1998532;1998534;1998536;1998538;1998540;1998542;1998544;1998546;1998548;1998550;1998552;1998554;1998556;1998558;1998560;1998562;1998564;1998566;1998568;1998570;1998572;1998574;1998576;1998578;1998580;1998582;1998584;1998586;1998588;1998590;1998592;1998594;1998596;1998598;1998600;1998602;1998604;1998606;1998608;1998610;1998612;1998614;1998616;1998618;1998620;1998622;1998624;1998626;1998628;1998630;1998632;1998634;1998636;1998638;1998640;1998642;1998644;1998646;1998648;1998650;1998652;1998654;1998656;1998658;1998660;1998662;1998664;1998666;1998668;1998670;1998672;1998674;1998676;1998678;1998680;1998682;1998684;1998686;1998688;1998690;1998692;1998694;1998696;1998698;1998700;1998702;1998704;1998706;1998708;1998710;1998712;1998714;1998716;1998718;1998720;1998722;1998724;1998726;1998728;1998730;1998732;1998734;1998736;1998740;1998742;1998744;1998746;1998748;1998750;1998752;1998754;1998756;1998758;1998760;1998762;1998764;1998766;1998768;1998770;1998772;1998774;1998776;1998778;1998780;1998782;1998784;1998786;1998788;1998790;1998792;1998794;1998796;1998798;1998800;1998802;1998804;1998806;1998808;1998810;1998812;1998814;1998816;1998818;1998820;1998822;1998824;1998826;1998828;1998830;1998832;1998834;1998836;1998838;1998840;1998842;1998844;1998846;1998848;1998850;1998852;1998854;1998856;1998858;1998860;1998862;1998864;1998866;1998868;1998870;1998872;1998874;1998876;1998878;1998880;1998882;1998884;1998886;1998888;1998890;1998892;1998960;1998962;1998964;1998966;1998968;1998970;1998972;1998974;1998976;1998978;1999088;1999090;2095974;2095976;2095978;2095980;2095982;2095984;2095986;2095988;2095990;2095992;2095994;2095996;2095998;2096000;2096002;2096004;2096006;2096008;2096010;2096012;2096014;2096016;2096018;2096020;2096022;2096024;2096026;2096028;2096030;2096032;2096034;2096036;2096038;2096040;2096042;2096044;2096046;2096048;2096050;2096052;2096054;2096056;2096058;2096074 ECD02413;ECD02448;ECD02623;ECD03576;ECD04178;ECD04880;ECD04947;ECD06082;ECD06225;ECD06226;ECD06682;ECD06848;ECD07044;ECD07290;ECD08118;ECD08692;ECD08878;ECD09349;ECD10010;ECD10268;ECD11401;ECD12344;ECD13410;ECD13820;ECD13936;ECD14360;ECD14763;ECD15053;ECD15103;ECD16043;ECD16221;ECD16845;ECD17002;ECD18368;ECD18535;ECD19021;ECD19124;ECD19758;ECD19812;ECD20100;ECD20381;ECD20713;ECD21664;ECD21789;ECD23154;ECD24359;L28348;PMC115182P1;PMC164606P14;REN70125;REN70126;REN70127;REN70128;REN70129;REN70130;REN70131;REN70132;REN70133;REN70134;REN70135;REN70136;REN70137;REN70138;REN70139;REN70140;REN70141;REN70142;REN70143;REN70144;REN70145;REN70146;REN70147;REN70148;REN70149;REN70150;REN70151;REN70152;REN70153;REN70154;REN70155;REN70156;REN70157;REN70158;REN70159;REN70160;REN70161;REN70162;REN70163;REN70164;REN70165;REN70166;REN70167;REN70168;REN70169;REN70170;REN70171;REN70172;REN70173;REN70174;REN70175;REN70176;REN70177;REN70178;REN70179;REN70180;REN70181;REN70182;REN70183;REN70184;REN70185;REN70186;REN70187;REN70188;REN70189;REN70190;REN70191;REN70192;REN70193;REN70194;REN70195;REN70196;REN70197;REN70198;REN70199;REN70200;REN70201;REN70202;REN70203;REN70204;REN70205;REN70206;REN70207;REN70208;REN70209;REN70210;REN70211;REN70212;REN70213;REN70214;REN70215;REN70216;REN70217;REN70218;REN70219;REN70220;REN70221;REN70222;REN70223;REN70224;REN70225;REN70226;REN70227;REN70228;REN70229;REN70230;REN70231;REN70232;REN70233;REN70234;REN70235;REN70236;REN70237;REN70238;REN70239;REN70240;REN70241;REN70242;REN70243;REN70244;REN70245;REN70246;REN70247;REN70248;REN70249;REN70250;REN70251;REN70252;REN70253;REN70254;REN70255;REN70256;REN70257;REN70258;REN70259;REN70260;REN70261;REN70262;REN70263;REN70264;REN70265;REN70266;REN70267;REN70268;REN70269;REN70270;REN70271;REN70272;REN70273;REN70274;REN70275;REN70276;REN70277;REN70278;REN70279;REN70280;REN70282;REN70283;REN70284;REN70285;REN70286;REN70287;REN70288;REN70289;REN70290;REN70291;REN70292;REN70293;REN70294;REN70295;REN70296;REN70297;REN70298;REN70299;REN70300;REN70301;REN70302;REN70303;REN70304;REN70305;REN70306;REN70307;REN70308;REN70309;REN70310;REN70311;REN70312;REN70313;REN70314;REN70315;REN70316;REN70317;REN70318;REN70319;REN70320;REN70321;REN70322;REN70323;REN70324;REN70325;REN70326;REN70327;REN70328;REN70329;REN70330;REN70331;REN70332;REN70333;REN70334;REN70335;REN70336;REN70337;REN70338;REN70339;REN70340;REN70341;REN70342;REN70343;REN70344;REN70345;REN70346;REN70347;REN70348;REN70349;REN70350;REN70351;REN70352;REN70353;REN70354;REN70355;REN70356;REN70357;REN70358;REN70392;REN70393;REN70394;REN70395;REN70396;REN70397;REN70398;REN70399;REN70400;REN70401;REN70456;REN70457;RH47939;RH70122;SHGC-144724;stSG601254;stSG601255;stSG601256;stSG601257;stSG601258;stSG601259;stSG601260;stSG601261;stSG601262;stSG601263;stSG601264;stSG601265;stSG601266;stSG601267;stSG601268;stSG601269;stSG601270;stSG601271;stSG601272;stSG601274;stSG601275;stSG601276;stSG601277;stSG601278;stSG601279;stSG601280;stSG601281;stSG601282;stSG601283;stSG601284;stSG601285;stSG601286;stSG601287;stSG601288;stSG601289;stSG601290;stSG601291;stSG601292;stSG601293;stSG601294;stSG601295;stSG601296;stSG601297;stSG601305 FLJ21568;FLJ26121 OTTHUMP00000065826;OTTHUMP00000065827;OTTHUMP00000065828;hypothetical protein LOC441108 miscrna ENSG00000197536 33838 18460 VALIDATED 3403707 C5orf58 chromosome 5 open reading frame 58 5 5 5 q35.1 165691873 165705161 + 169592528 169605813 + 169659950 169673235 + 6480464 12477932 133874 C9J3I9;G3V135 ABBA01044101;AC008660;AC034199;AMYH01015802;BC030767;BC092511;BX100176;CH471062;NM_001102609 C9J3I9;EAW61482;NP_001096079 Hs.519749 1654229 RH70635 MGC42229 OTTHUMP00000223182;putative uncharacterized protein C5orf58 protein-coding ENSG00000234511 37272 PREDICTED 1351960 C6orf100 chromosome 6 open reading frame 100 6 p22.1 28911203 28912313 + 19851445 387084;729583 Q5JQF7 BX118328;NR_103538;R07702;XM_002343966;XM_002343988;XM_002344022;XM_002344050;XR_039921;XR_039923;XR_078633;Z84476 CAC69878;Q5JQF7;XP_002344007;XP_002344029;XP_002344063;XP_002344091 Hs.453549 2128410;2186434 RH46736;WI-17133 dJ25J6.5 miscrna 21195 PREDICTED 1604480 C5orf64 chromosome 5 open reading frame 64 5 5 5 q12.1 57929772 57998497 + 60969393 61038119 + 60933636 61002362 + 14702039;12477932;22832961 285668 Q2M2E5 ABBA01048371;AC026746;AC094086;AK094862;AK127800;AMYH01015114;BC111982;BC112008;CH471137;NM_173667 AAI11983;AAI12009;BAC04439;EAW51393;NP_775938;Q2M2E5 Hs.683866 1341609;1681885;1709964;1761023;5015619;5037552 D11S3114;D5S1990;D8S2279;RH92005;SHGC-144986;SHGC-82250 FLJ37543;FLJ45901;MGC138187;MGC138213 OTTHUMP00000221970;hypothetical protein LOC285668;uncharacterized protein C5orf64 APPROVED protein-coding ENSG00000178722 26744 09962 VALIDATED 1604481 C5orf51 chromosome 5 open reading frame 51 5 5 5 p13.1 41792762 41810031 + 41940227 41957495 + 41904470 41921738 + 6480464 15489334;15372022;14702039;12477932;21139048;21890473;19322201;22505724 285636 A6NDU8;Q6AW98 ABBA01024237;AC034222;AK094002;AL833916;AMYH01015051;BC131721;BF439305;CH471119;NM_175921 A6NDU8;AAI31722;EAW56016;EAW56017;NP_787117 Hs.29899 1677220 RH98965 OTTHUMP00000221208;UPF0600 protein;UPF0600 protein C5orf51;hypothetical protein LOC285636 protein-coding ENSG00000205765 27750 11258 VALIDATED 3104049 C5orf60 chromosome 5 open reading frame 60 5 5 q35.3 179001940 179004612 - 179068558 179072047 - 12477932;14702039;15372022;15489334 285679 A6NFR6;H0Y8N9 ABBA01010029;AC136604;AK093042;AMYH01015956;BC040992;BC043435;BC130442;BC130444;BC144274;BC144275;HC007094;NM_001142306 A6NFR6;AAI30443;AAI30445;AAI44275;AAI44276;CBH19352;NP_001135778;Q8NA96 Hs.558748 1650586;1654186;1660625;1676656;1677012;1677116;1683156;1694678;1700336;1719077;1797694;2130779;2140472 D5S1862;G16980;G43520;HNRPH1_2339;RH103788;RH123255;RH69028;RH77877;RH78175;RH79987;RH99066;RH99206;SHGC-13723 FLJ35723 OTTHUMP00000223358;OTTHUMP00000223359;putative uncharacterized protein C5orf60;putative uncharacterized protein FLJ35723 protein-coding ENSG00000204661 27753 PREDICTED 1605841 C6orf1 chromosome 6 open reading frame 1 6 6 6 p21.31 35768530 35771279 - 34322135 34324882 - 34214157 34216904 - 6480464 15489334;12477932;10036196;8889549;19913121;20628086;19893584;20379614;21998595 221491 G8JLJ3;Q86T20 AA043491;AA779779;ABBA01038180;AK290164;AL354740;AMYH01016255;AY062936;BC009526;BC023627;BC047919;CF456665;CH471081;NM_001008703;NM_001008704;NM_178508 AAH23627;AAH47919;BAF82853;EAX03775;EAX03776;EAX03777;EAX03778;NP_001008703;NP_001008704;NP_848603;Q86T20 Hs.381300 1677856;2189327 MARC_1047-1048:991929773:1;RH94282 LBH;MGC57858 OTTHUMP00000216380;OTTHUMP00000216551;OTTHUMP00000216552;OTTHUMP00000216553;hypothetical protein LOC221491;uncharacterized protein C6orf1 protein-coding ENSG00000186577 1340 12834 611419 VALIDATED 1346663 C6orf10 chromosome 6 open reading frame 10 6 6 6 p21.3 33827603 33906430 - 32368453 32447634 - 32260475 32339656 - 6480464 22751097;19143821;19116923;18445777;15489334;14574404;12509440;12477932;10803852;8125298;20549515;20587610;20639878;20662065;18576341;18941528;19680446;19851445;20200978;20453842;21326295;21408207;21804548;21900946;22457343;22318606;22589738;22703881;23042114;23251661;23321320 10665 B0UYU3;B0UYU4;B0UZT8;B0UZT9;C9J9T8;E9PLW3;E9PMB1;E9PNQ4;E9PQ85;F8VVU2;Q13647;Q5SPK9 ABBA01038109;ABBA01038110;AK225742;AK302176;AK310230;AL034394;AL035445;AL662796;AL670296;AL671511;AL845509;AL845557;AMYH01016236;AMYH01016237;BC034774;BX001039;BX113229;BX119999;BX255945;BX284927;BX908732;BX927180;CH471081;CR751604;CR752644;CR759737;CR759773;CR759917;CT009614;NM_006781;U60665 AAB02975;AAH34774;BAG63542;CAI20345;CAI20346;CAI42178;CAI42179;EAX03624;EAX03625;NP_006772;Q5SRN2 Hs.567414 1681203;1697158;1786154;2106255;2106257;2106259;2106261;2106263;2106265;2106267;2106269;2106271;2106273;2106275;2106277;2189725;2189727;2220328 13-36829;D6S2732;D6S2734;D6S2744;D6S2886;D6S2887;D6S2888;D6S2889;D6S2890;D6S2891;D6S2892;D6S2913;D6S2914;M2_2_46;M2_2_48;RH102067;RH80842;SHGC-79455 TSBP OTTHUMP00000029142;OTTHUMP00000029143;OTTHUMP00000229345;OTTHUMP00000229346;OTTHUMP00000229347;chromosome 6 open reading frame 10;testis specific basic protein;uncharacterized protein C6orf10 protein-coding ENSG00000204296 13922 09851 VALIDATED 1345988 C6orf131 chromosome 6 open reading frame 131 387091 21287 1354360 C6orf132 chromosome 6 open reading frame 132 6 6 6 p21.1 43621313 43663175 - 42202512 42218693 - 42068857 42110715 - 6480464 647024 Q5T0Z8 ABBA01050734;ABBA01050735;ABBA01050736;AK074567;AL096814;AL512274;AMYH01016302;NM_001164446 NP_001157918;Q5T0Z8 Hs.444277 1758385;5015961 D15S1477;SHGC-148209 FLJ90086;bA7K24.2 OTTHUMP00000016396;OTTHUMP00000223436;hypothetical protein LOC647024;uncharacterized protein C6orf132 protein-coding ENSG00000188112 21288 PREDICTED 1352972 C6 complement component 6 This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012] 5 5 p13 41178093 41249369 - 41142336 41261540 - 1600672;1600673;625607;1600675;1600489;1600682;1600670;1580863;6480464;6907045;7240710 15638131;15351314;11970970;11912252;10807586;2672823;17034580 17474147;3052276;19344414;18842294;17257682;16344560;16335952;15845028;15489334;14757862;12477932;10551839;9856498;9472666;9366265;8805625;8512929;8364540;8101442;3764345;3192535;2808363;2789218;2468158;1672663;1387399;16169070;19162005;19423540;19665237;19864026;20237496;20406964;20438785;20459687;19913121;20628086;22267737;21704099;22288589;22500023;21988832;23149075 729 C9JC72;C9JX36;P13671 AB126592;ABBA01024229;ABBA01024230;ABBA01024231;AC008863;AC091871;AK292509;AK313673;AMYH01015049;BC035723;BJ993387;CH471119;DB066614;DB184605;J04506;J05024;J05064;NG_011582;NM_000065;NM_001115131;X72177 AAA51860;AAA59668;AAB59433;AAH35723;ABM82183;ABM85369;BAD02321;BAF85198;CAA50994;EAW56012;EAW56013;NP_000056;NP_001108603;P13671 Hs.481992 1655871;1695680;1717965;1743587;1785282;2177204;2217092;5491856 C6;C6_2629;D5S2425;GDB:352711;RH122809;SHGC-106966;SHGC-78720;STS-X72177 OTTHUMP00000120010;OTTHUMP00000197101;complement component C6 APPROVED protein-coding ENSG00000039537 1339 01956 217050;612446 REVIEWED 1348768 C6orf120 chromosome 6 open reading frame 120 6 6 6 q27 170812442 170816587 + 169844182 169848327 + 170102257 170106402 + 12477932;9110174;8908511;8619474;21980299;22340178 387263 J3KQ97;Q7Z4R8 ABBA01016118;AF055030;AF451991;AK295061;AK295962;AL513547;AMYH01016878;BC051700;CH471051;NM_001029863 AAH51700;AAP97690;BAG58110;BAG58741;EAW47445;EAW47446;NP_001025034;Q7Z4R8 Hs.591375;Hs.694601 1769969;2138236;2151082 D6S1237E;D6S1902;RH36593 bA160E12.4 OTTHUMP00000017670;UPF0669 protein C6orf120;hypothetical protein LOC387263 protein-coding ENSG00000185127 21247 PROVISIONAL 1347646 C6orf114 chromosome 6 open reading frame 114 6 6 6 p23 14702736 14719620 - 13577488 13594394 - 13469509 13486415 - 15489334;14574404;12477932 85411 AF264036;AL583828;BC009205;BC066553;CH471087;NM_033069 AAH66553;AAK58533;CAI14821;EAW55330;NP_149060;Q96JD4 Hs.674313 ADG-90;FLJ20330;RP11-501I19.1 OTTHUMP00000016049;chromosome 6 open reading frame 114;hypothetical protein LOC85411 protein-coding 21229 12841 MODEL 1350222 C6orf144 chromosome 6 open reading frame 144 387096 21358 1601978 C6orf106 chromosome 6 open reading frame 106 6 6 6 p21.31 36109394 36219085 - 34663043 34772603 - 34555065 34664625 - 6480464 8619474;19266077;18793612;18391952;18003597;15489334;14702039;14574404;12477932;9110174;20546612;20846217;19059477;19343178;21832049;19322201;21987572;21139048;21890473;21906983;20686565;21963094;21988832;23000965;23449627;22053931;22505724 64771 Q5TH58;Q9H6K1 ABBA01038192;ABBA01038193;ABBA01038194;ABBA01038195;ABBA01038196;ABBA01038197;AF052106;AF370387;AK025848;AK056964;AK313410;AL031577;AL451165;AMYH01016259;AMYH01016260;BC002328;BC010143;BC010184;BC013241;BC071885;BC075810;BC107732;BE898102;CH471081;NM_022758;NM_024294 AAH02328;AAH10184;AAH75810;AAQ15223;BAB15258;BAB71327;BAG36204;EAX03790;EAX03791;EAX03792;NP_073595;NP_077270;Q9H6K1 Hs.643498 1654832;2124337;2144210;2157578 D6S1136E;RH16573;RH65367;WI-21948 FLJ22195;FLJ32402;FP852;MGC4614;RP3-391O22.4;dJ391O22.4 OTTHUMP00000016235;OTTHUMP00000016236;OTTHUMP00000016237;chromosome 6 open reading frame 106;uncharacterized protein C6orf106 protein-coding ENSG00000196821 21215 12837 612217 VALIDATED 1349789 C6orf118 chromosome 6 open reading frame 118 6 6 6 q27 166431264 166461218 - 165613143 165643101 - 165693153 165723111 - 6480464 8889548;15489334;14574404;12477932;21832049;22589738 168090 F5H2W5;Q5T5N4 ABBA01015091;AI333765;AK302358;AL117345;AL356125;AMYH01016842;BC026278;BM968092;CH471051;DB454755;NM_144980 AAH26278;BAH13683;EAW47548;EAW47549;NP_659417;Q5T5N4 Hs.144734 MGC23884;bA85G2.1;dJ416F21.2 OTTHUMP00000017584;dJ416F21.2 (novel protein);hypothetical protein LOC168090;uncharacterized protein C6orf118 protein-coding ENSG00000112539 21233 12844 VALIDATED 1348540 C6orf15 chromosome 6 open reading frame 15 6 6 6 p21.3 32679218 32680550 - 31186979 31188311 - 31079000 31080332 - 6480464 19620980;18029348;15217361;14574404;12975309;11178745;10545595;15466855;19851445;20639881;21841780;22493691;23263863;23326239 29113 M1T2K5;Q6UXA7 AB031481;AB088114;AB202103;ABBA01038068;AL662844;AL662867;AL773544;AMYH01016209;AY358438;BX927139;CH471081;CR753819;CR759805;NG_021348;NM_014070 AAI46375;AAI53158;AAQ88804;BAA88132;BAC54947;BAE78624;EAX03356;NP_054789;Q6UXA7 Hs.272214 5493185 UniSTS:484638 STG OTTHUMP00000029146;STG protein;taste bud-specific protein;uncharacterized protein C6orf15 protein-coding ENSG00000204542 13927 12856 611401 VALIDATED 1354465 C6orf147 chromosome 6 open reading frame 147 6 6 q13 74377094 74414626 - 73983862 74020088 - 16341674;14702039 387097 ABBA01040310;ABBA01040311;AC019205;AK090984;AMYH01016425;BM747426;NR_027005 Hs.732094 1666974;1809276;1812602;1816948;1817340;1820570;1822202;1823370;1824056;1824216;1825944;1831840;1835710;1837634;1837974;1838904;1839178;1839380;1841174;1841720;1843112;1843228;1845122;1845726;1855756;1855758;1922730;1922732;1922734;1922736;1922738;1922740;1922742;1922744;1922746;1922748;1922750;1922752;1922754;1922756;1922758;1922760;1922762;1922764;1922766;1922768;1922770;1922772;1922774;1922776;1922778;1922780;1922782;1922784;1922786;1922788;1922790;1922792;1922794;1922796;1922798;1922800;1922802;1922804;1922806;1922808;1922810;1922812;1922814;1922816;1922818;1922820;1922822;1922824;1922826;1922828;1922830;1922832;1922834;1922836;1922838;1922840;1922842;1922844;1922846;1922848;1922850;1922852;1922854;1922856;1922858;1922860;1922862;1922864;1922866;1922868;1922870;1922872;1922874;1922876;1922878;1922880;1922882;1922884;1922886;1922888;1922890;1922892;1922894;1922896;1922898;1922900;1922902;1922904;1922906;1922908;1922910;1922912;1922914;1922916;1922918;1922920;1922922;1922924;1922926;1922928;1922930;1922932;1922934;1922936;1922938;1922940;1922942;1922944;1922946;1922948;1922950;1922952;1922954;1922956;1922958;1922960;1922962;1922964;1922966;1922968;1922970;1922972;1922974;1922976;1922978;1922980;1922982;1922984;1922986;1922988;1922990;1922992;1922994;1922996;1922998;1923000;1923002;1923004;1923006;1923008;1923010;1923012;1923014;1923016;1923018;1923020;1923022;2159494;2172145;2172147;2183855;2207106;2207108;2207110;2207112;2207114;2207116;2207118;2207120;2207122;2207124;2207126;2207128;2207130;2207132;2207134;2207136;2207138;2207140;2207142;2207144;2207146;2207148;2207150;2207152;2207154;2207156;2207218;5022322;5037552 A002C29;A005C09;D11S2560;D6S1876;D8S2279;ECD05628;ECD07311;ECD09523;ECD09720;ECD11360;ECD12187;ECD12775;ECD13124;ECD13205;ECD14081;ECD17058;ECD19012;ECD19984;ECD20158;ECD20631;ECD20769;ECD20872;ECD21781;ECD22058;ECD22764;ECD22822;ECD23778;ECD24082;G19931;G20265;REN32189;REN32190;REN32191;REN32192;REN32193;REN32194;REN32195;REN32196;REN32197;REN32198;REN32199;REN32200;REN32201;REN32202;REN32203;REN32204;REN32205;REN32206;REN32207;REN32208;REN32209;REN32210;REN32211;REN32212;REN32213;REN32214;REN32215;REN32216;REN32217;REN32218;REN32219;REN32220;REN32221;REN32222;REN32223;REN32224;REN32225;REN32226;REN32227;REN32228;REN32229;REN32230;REN32231;REN32232;REN32233;REN32234;REN32235;REN32236;REN32237;REN32238;REN32239;REN32240;REN32241;REN32242;REN32243;REN32244;REN32245;REN32246;REN32247;REN32248;REN32249;REN32250;REN32251;REN32252;REN32253;REN32254;REN32255;REN32256;REN32257;REN32258;REN32259;REN32260;REN32261;REN32262;REN32263;REN32264;REN32265;REN32266;REN32267;REN32268;REN32269;REN32270;REN32271;REN32272;REN32273;REN32274;REN32275;REN32276;REN32277;REN32278;REN32279;REN32280;REN32281;REN32282;REN32283;REN32284;REN32285;REN32286;REN32287;REN32288;REN32289;REN32290;REN32291;REN32292;REN32293;REN32294;REN32295;REN32296;REN32297;REN32298;REN32299;REN32300;REN32301;REN32302;REN32303;REN32304;REN32305;REN32306;REN32307;REN32308;REN32309;REN32310;REN32311;REN32312;REN32313;REN32314;REN32315;REN32316;REN32317;REN32318;REN32319;REN32320;REN32321;REN32322;REN32323;REN32324;REN32325;REN32326;REN32327;REN32328;REN32329;REN32330;REN32331;REN32332;REN32333;REN32334;REN32335;RH44515;WI-15927;stSG625778;stSG625779;stSG625780;stSG625781;stSG625782;stSG625783;stSG625784;stSG625785;stSG625786;stSG625787;stSG625788;stSG625789;stSG625790;stSG625791;stSG625792;stSG625793;stSG625794;stSG625795;stSG625796;stSG625797;stSG625798;stSG625799;stSG625800;stSG625801;stSG625802;stSG625803;stSG625837 miscrna 21363 PREDICTED 1351982 C6orf177 chromosome 6 open reading frame 177 387105 H7C4Q1 21537 1604202 C6orf163 chromosome 6 open reading frame 163 6 6 6 q15 88473243 88493854 + 88113939 88131900 + 88054571 88075181 + 14702039;14574404 206412 E1P506;Q5TEZ5 ABBA01040492;AK092941;AL096817;AMYH01016493;CH471051;NM_001010868 EAW48604;EAW48605;EAW48606;NP_001010868;Q5TEZ5 Hs.646309 2113832;5015961;5037552 AB070040;D15S1477;D8S2279 OTTHUMP00000016829;hypothetical protein LOC206412;uncharacterized protein C6orf163 protein-coding ENSG00000203872 21403 16659 PROVISIONAL 1349161 C6orf178 chromosome 6 open reading frame 178 387108 21546 1346584 C6orf179 chromosome 6 open reading frame 179 387109 AL365217 CAI16604 bA74E24.1 protein-coding 21547 1348040 C6orf180 chromosome 6 open reading frame 180 387110 21548 1346936 C6orf123 chromosome 6 open reading frame 123 6 6 6 q27 168902229 168914578 - 167931093 167934605 - 168185217 168197539 - 15489334;12477932;10382971 26238 Q9Y6Z2 AB016901;ABBA01000417;AL009178;AL732359;AMYH01016865;BC027853;CH471051;NR_026773 BAA78636;EAW47488;EAW47489;Q9Y6Z2 Hs.520583 1336670;5016478;5024039;5037552 D16S325;D6S503;D8S2279;GDB:434012 HGC6.2;RP3-431P23.4;dJ431P23.4 miscrna ENSG00000146521 21235 12846 PREDICTED 1350155 C6orf183 chromosome 6 open reading frame 183 6 6 q21 109593733 109658131 + 109487040 109551438 + 11181995;14574404;14702039 389422 Q5T699 ABBA01026130;ABBA01026131;ABBA01026132;ABBA01026133;ABBA01026134;ABBA01026135;ABBA01026136;AL355305;AL359712;AMYH01016581;AMYH01016582;CH471051;XM_003403515;XM_003403796;XM_003960372 EAW48358;EAW48359;EAW48360;Q5T699;XP_003403563;XP_003403844;XP_003960421 FLJ37396;bA487F23.3 chromosome 6 open reading frame 183;putative uncharacterized protein C6orf183;transmembrane protein FLJ37396 protein-coding ENSG00000243587 21562 MODEL 1346500 C6orf187 chromosome 6 open reading frame 187 221299 XM_166305 21567 1349077 C6orf193 chromosome 6 open reading frame 193 254751 XM_173173 19130 1351435 C6orf2 chromosome 6 open reading frame 2 23737 1341 1342733 C6orf141 chromosome 6 open reading frame 141 6 6 6 p12.3 51074268 51075963 + 49625862 49628148 + 49518113 49519808 + 6480464 15489334;15146197;14702039;14574404;12477932 135398 H0YDR2;Q5SZD1 ABBA01050590;AK054918;AK289889;AL590244;AMYH01016339;BC036917;CH471081;CN345508;NM_001145652 AAH36917;BAB70828;BAF82578;EAX04335;EAX04336;NP_001139124;Q5SZD1 Hs.722010 5015861;5015881;7185938 D10S16;GDB:335751 MGC46457 OTTHUMP00000233263;hypothetical protein LOC135398;uncharacterized protein C6orf141 protein-coding ENSG00000197261 21351 12852 VALIDATED 1343649 C6orf202 chromosome 6 open reading frame 202 387115 AL136968 CAI19704;Q5TBU7 dJ182O16.3 protein-coding 21621 1350837 C6orf164 chromosome 6 open reading frame 164 6 6 6 q15-q16.1 88525506 88528123 + 88106842 88109459 + 88106842 88109459 + 14702039;12477932 63914 Q5TEZ4 ABBA01040493;ABBA01040494;AK021476;AL096817;AMYH01016493;NR_026784 Q5TEZ4 Hs.645177 dJ102H19.4 miscrna ENSG00000203871 21404 VALIDATED 1349220 C6orf184 chromosome 6 open reading frame 184 6 q21 109722199 109736133 + 12477932;11181995 221261 AL359711;BC107113;BC107114;CH471051;XM_001725460;XM_168053;XM_939850 A4QMU0;AAI07114;CAI40694;EAW48357;XP_001725512;XP_168053;XP_944943 Hs.373914 bA425D10.3 protein-coding 21563 1348259 C6orf136 chromosome 6 open reading frame 136 6 6 6 p21.33 32212933 32219096 + 30722780 30728963 + 30614816 30620987 + 6480464 16344560;15489334;15342556;14702039;14574404;12477932;8889548;17207965;22461910;21900206 221545 B0S7Q4;F8WBB4;F8WC77;F8WEV2;H7C4U4;H7C4Z6;H7C5B5;H7C5D3;Q0P5T2;Q5SQH8 ABBA01038051;ABBA01038052;AI536982;AK127564;AL662798;AL662800;AL732442;AL845353;AMYH01016205;AMYH01016206;BC016167;BC064397;BC073975;BM695485;BP255323;BQ022831;BX119957;BX908728;CH471081;CR753328;CR759778;DA200997;NM_001109938;NM_001161376;NM_145029 AAH16167;AAH64397;ADQ32157;BAC87037;EAX03310;EAX03311;NP_001103408;NP_001154848;NP_659466;Q5SQH8 Hs.591787 1685379;1739677;2156323;2189613;5116997 C4_2_24;D6S1533E;HL002;RH98618;STS-N98554 MGC15854 OTTHUMP00000029326;OTTHUMP00000029327;OTTHUMP00000029329;OTTHUMP00000214979;hypothetical protein LOC221545;uncharacterized protein C6orf136 protein-coding ENSG00000204564 21301 12851 VALIDATED 1351690 C6orf215 chromosome 6 open reading frame 215 p21.3 16702430;8838313 80866 AB088092;X90534 GT257 miscrna 30986 1354340 C6orf201 chromosome 6 open reading frame 201 6 6 6 p25.2 5308009 5359561 + 4024439 4075998 + 4079440 4130999 + 12477932;17207965;21832049 404220 B3KW47;B4DXB2;E9PC17;F8W941;Q7Z4U5 ABBA01021999;AF429972;AK124114;AK301893;AL033383;AMYH01016040;BC047663;BC066986;CH471087;NM_001085401 AAH47663;AAH66986;AAP97304;ADQ32979;BAG54009;BAG63324;EAW55155;EAW55156;EAW55157;NP_001078870;Q7Z4U5 Hs.716731 1658219;1679251;1744295;1744297;2182043 D6S1142E;GDB:451589;GDB:451598;RH70427;RH99317 MGC87625;dJ1013A10.5 OTTHUMP00000213693;OTTHUMP00000213725;hypothetical protein LOC404220;protein MGC87625;uncharacterized protein C6orf201 protein-coding ENSG00000185689 21620 12872 VALIDATED 1321665 C6orf165 chromosome 6 open reading frame 165 6 6 6 q15 88536482 88592999 + 88174440 88230901 + 88117690 88174191 + 6480464 16189514;15489334;14702039;14574404;12477932;16344560;20308539 154313 D6R9L9;D6RBZ4;Q8IYR0;Q8N771 ABBA01040494;AK093830;AK098840;AL049697;AMYH01016493;BC035083;BC045171;CH471051;DB021694;DB510748;NM_001031743 AAH35083;BAC04234;BAC05430;EAW48594;EAW48596;EAW48598;NP_001026913;Q8IYR0 Hs.82921 1335002;1676638;2176039 D6S1004;RH93136;SGC34177 FLJ25974;FLJ46091;dJ382I10.1 OTTHUMP00000016831;OTTHUMP00000220982;UPF0704 protein C6orf165;hypothetical protein LOC154313 protein-coding ENSG00000213204 21405 12863 VALIDATED 1605195 C6orf222 chromosome 6 open reading frame 222 6 6 6 p21.31 37838123 37859251 - 36391516 36412640 - 36283534 36304662 - 14574404;12477932 389384 P0C671 ABBA01038256;ABBA01038257;AMYH01016271;AMYH01016272;BC140873;BX648558;CH471081;NM_001010903;Z84484 AAI40874;EAX03884;NP_001010903;P0C671 Hs.162104 DKFZp779B1540 OTTHUMP00000216602;hypothetical protein LOC389384;uncharacterized protein C6orf222 protein-coding ENSG00000189325 33769 16824 VALIDATED 1343779 C6orf195 chromosome 6 open reading frame 195 6 6 6 p25.2 3851932 3864257 - 2567971 2580297 - 2622972 2635298 - 15489334;14702039;14574404;12477932;23251661 154386 Q96MT4 ABBA01048629;AK056496;AL138876;AMYH01016025;BC104007;BC104008;BC104009;CH471087;NM_152554 AAI04008;AAI04009;AAI04010;BAB71197;EAW55081;NP_689767;Q96MT4 Hs.680574 FLJ31934;MGC120321;MGC120322;MGC120323;RP11-145H9.2;bA145H9.2 OTTHUMP00000015942;hypothetical protein LOC154386;uncharacterized protein C6orf195 protein-coding 21600 12870 VALIDATED 1353225 C6orf36 chromosome 6 open reading frame 36 p21.3 140785 Z93017 protein-coding 17979 1605842 C6orf223 chromosome 6 open reading frame 223 6 6 6 p21.1 45521486 45526844 + 44076317 44080865 + 43968337 43973695 + 6480464 12477932;21757650 221416 Q8N319 ABBA01050660;AL109615;AMYH01016318;AW136542;BC029071;BC032706;BF515759;BX342526;CH471081;NM_001171992;NM_153246 AAH29071;AAH32706;ABM87657;ABW03908;ACT64510;ACT64511;EAX04238;EAX04239;NP_001165463;NP_694978;Q8N319 Hs.531926 MGC45491 OTTHUMP00000217343;OTTHUMP00000217344;hypothetical protein LOC221416;uncharacterized protein C6orf223 protein-coding ENSG00000181577 28692 14640 VALIDATED 1349360 C6orf42 chromosome 6 open reading frame 42 394256 18773 1352614 C6orf43 chromosome 6 open reading frame 43 493815 18774 1345357 C6orf38 chromosome 6 open reading frame 38 p21 387055 AA913908;AI688709 Hs.369401 C6orf39;bA373N24.1 protein-coding 18690 1606421 C6orf224 chromosome 6 open reading frame 224 6 q21 109920757 109934386 - 12477932;11181995 222521 AK098657;AL109947;BC101714;BC111948;BC143533;CH471051;NM_173559 AAI01715;AAI11949;AAI43534;BAC05368;EAW48336;NP_775830;Q3MIS4 Hs.335027 FLJ25791;MGC126763;MGC138153 protein-coding 26377 08076 1353882 C6orf50 chromosome 6 open reading frame 50 6 p25.1 3927901 3928709 + 14574404 57052 Q9HD87 AF210650;AL138831 AAF99586;CAI20479;Q9HD87 Hs.150858 KIAA0536;NAG19 protein-coding 20481 1348700 C6orf52 chromosome 6 open reading frame 52 6 6 6 p24.1 11900143 11923522 - 10779637 10795769 - 10671651 10695030 - 737633;6480464 12477932 347744 D6RAP8;D6RGE8;Q5T4I8 ABBA01022083;ABBA01022084;AI376550;AI621292;AI809192;AL358777;AMYH01016079;AW183566;AW293245;BC016820;BX280692;CH471087;NM_001145020;NR_026736;NR_026737 AAH16820;EAW55264;NP_001138492;Q5T4I8 Hs.61389 OTTHUMP00000016016;OTTHUMP00000016017;putative uncharacterized protein C6orf52 protein-coding ENSG00000137434 20881 PREDICTED 1346285 C6orf203 chromosome 6 open reading frame 203 6 6 6 q21 108097763 108120882 + 107456110 107479238 + 107349407 107372546 + 6480464 21832049;16344560;15489334;14702039;14574404;12477932;11707072;11042152;16169070;20877624;20186120 51250 J3KQ88;Q9P0P8 ABBA01026182;ABBA01026183;ABBA01026184;AF151064;AI193526;AK091564;AL355586;AMYH01016569;BC010899;CH471051;DA167160;NM_001142468;NM_001142470;NM_016487 AAF36150;AAH10899;ADZ15801;BAG52381;EAW48402;NP_001135940;NP_001135942;NP_057571;Q9P0P8 Hs.486084 2180854;5022339 HSPC230;RH45359 FLJ34245;HSPC230;PRED31;RP11-59I9.1 HSPC230;OTTHUMP00000016927;hypothetical protein LOC51250;uncharacterized protein C6orf203 protein-coding ENSG00000130349 17971 12873 VALIDATED 1602792 C6orf226 chromosome 6 open reading frame 226 6 6 6 p21.1 44410270 44410821 - 42965981 42966532 - 42858003 42858554 - 6480464 12477932 441150 Q5I0X4 ABBA01050708;AL035587;AMYH01016309;AX061662;BC051007;BC060325;BC073804;BC094854;NM_001008739 AAH60325;AAH73804;AAH94854;ADR82728;CAC25022;NP_001008739;Q5I0X4 Hs.571098 OTTHUMP00000211032;hypothetical protein LOC441150;uncharacterized protein C6orf226 protein-coding ENSG00000221821 34431 17403 PROVISIONAL 1313144 C6orf211 chromosome 6 open reading frame 211 6 6 6 q25.1 152507286 152525096 + 151815115 151832925 + 151773422 151791232 + 6480464 17353931;18029348;18978678;15489334;14702039;14574404;12477932;21540461;21552322;21139048;21906983;19805454 79624 F2Z3I8;F5GZY1;Q9H993 ABBA01025635;ABBA01025636;AJ420548;AK022972;AK298490;AK310840;AL110241;AL590543;AMYH01016746;BC011348;CH471051;NM_024573 AAH11348;BAB14339;BAG60698;CAB53692;EAW47744;EAW47745;NP_078849;Q9H993 Hs.15929 2166922 STS-T85358 DKFZp566I174;FLJ12910 OTTHUMP00000017433;UPF0364 protein C6orf211;hypothetical protein LOC79624 protein-coding ENSG00000146476 17872 09854 PROVISIONAL 1347534 C6orf61 chromosome 6 open reading frame 61 6 q22.31 119241321 119261971 - 16226853;14702039;14574404 54844 AK000177;AL132874;BN000882;XM_927492 BAA90991;CAC05409;CAJ70648;Q2KHJ0;Q8N5S5;Q9NXL9;XP_932585 Hs.279008 FLJ20170;MCM9;dJ329L24.1 protein-coding 18148 1353600 C6orf7 chromosome 6 open reading frame 7 6 q14 80513304 80580137 - 20522523 89758 ABBA01040419;AL078462;AL132875;AL590241;AMYH01016459;NM_001243308 NP_001230237 Hs.288213 hypothetical protein LOC89758;uncharacterized protein LOC89758 protein-coding 14109 VALIDATED 1344247 C6orf48 chromosome 6 open reading frame 48 6 6 6 p21.3 33400945 33405790 + 31910672 31915520 + 31802693 31807541 + 6480464 14759258;12477932;8096093;19851445;20041166;19913121;20628086;23382691 50854 Q9UBA6 ABBA01038089;AJ249731;AJ249732;AK311989;AL662834;AL671762;AL929592;AMYH01016219;BA000025;BC000706;BC017660;BC066330;BQ920527;BT007334;CD249104;CH471081;CR388202;CR759915;NM_001040437;NM_001040438 AAH00706;AAH17660;AAP35998;ADZ15651;BAB63298;CAB56506;CAB56507;CAB56508;EAX03530;EAX03531;EAX03532;EAX03533;EAX03534;EAX03535;NP_001035527;NP_001035528;Q9UBA6 Hs.640836;Hs.714250 1650615;2131873;2155308;5115473 G30247;RH41849;RH46105;RH47136 D6S57;G8 OTTHUMP00000029249;OTTHUMP00000029250;OTTHUMP00000029251;OTTHUMP00000029252;OTTHUMP00000029253;OTTHUMP00000029254;OTTHUMP00000029256;OTTHUMP00000174626;protein G8 protein-coding ENSG00000204387 19078 12015 605447 VALIDATED 1354388 C6orf25 chromosome 6 open reading frame 25 This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 p21.33 33289386 33291076 + 31799140 31800830 + 31691121 31694487 + 1304532;6480464 10384126 11544253;19143814;18955485;17678728;17311996;15848171;14702039;14656967;14574404;12665801;12477932;11076863;19913121;20628086;19851445;8889548;17192395 80739 B0UXC5;B0UXC6;B0V023;B7ZLJ5;F8WDG3;Q96A90 ABBA01038084;AF129756;AJ012008;AJ292259;AJ292260;AJ292261;AJ292262;AJ292263;AJ292264;AJ292265;AK092392;AL662899;AL670886;AL844216;AMYH01016217;BA000025;BC113719;BC113721;BC143850;BU681844;BX248244;CH471081;CR354443;CR759787;CR936239;NG_029044;NM_025260;NM_138272;NM_138273;NM_138274;NM_138275;NM_138277 AAD18075;AAI11843;AAI13720;AAI13722;AAI43851;ADR82871;BAB63378;BAG52544;CAB46080;CAC83496;CAC83497;CAC83498;CAC83499;CAC83500;CAC83501;CAC83502;EAX03492;EAX03493;EAX03494;EAX03495;EAX03496;EAX03497;EAX03498;EAX03499;NP_079536;NP_612116;NP_612117;NP_612118;NP_612119;NP_612121;O95866 Hs.247879 1685714;5014051;5022651;5037552;5493107 D11S2921;D8S2278;D8S2279;RH76564;UniSTS:484317 G6b;MGC142279;MGC142281;NG31 OTTHUMP00000029171;OTTHUMP00000029172;OTTHUMP00000029173;OTTHUMP00000029176;OTTHUMP00000029177;OTTHUMP00000215228;OTTHUMP00000215230;immunoglobulin receptor;protein G6b APPROVED protein-coding ENSG00000204420 13937 09405 606520 REVIEWED 1345123 C6orf92 chromosome 6 open reading frame 92 387076 21164 1354353 C6orf98 chromosome 6 open reading frame 98 6 q25.1 152529594 152532033 - 387079 NM_001099267 NP_001092737 dJ45H2.2 protein-coding 21178 1350961 C6orf99 chromosome 6 open reading frame 99 6 6 6 q25.3 159957470 159979248 + 159210965 159251373 + 159309619 159331385 + 14574404 100130967 Q4VX62 ABBA01021075;ABBA01021076;AL627422;AMYH01016794;AW138390;BF688381;NM_001195032 NP_001181961;Q4VX62 Hs.32804 1680054;2131466 RH99275;SHGC-57156 yR211F11.1 OTTHUMP00000017513;putative uncharacterized protein C6orf99 protein-coding 21179 PREDICTED 1354435 C6orf47 chromosome 6 open reading frame 47 6 6 6 p21.3 33224296 33226770 - 31734054 31736528 - 31626075 31628549 - 6480464 19143821;18835879;17081983;15489334;14667819;14656967;14574404;12477932;2477242;16169070;19851445;19913121;20628086;21890473 57827 O95873;Q9UMP7 ABBA01038084;AF129756;AJ245433;AL662801;AL662899;AL670886;AL805934;AMYH01016217;BA000025;BC012950;BC063584;BX511262;CH471081;CR354443;CR753842;CR759761;NM_021184 AAD18083;AAH12950;BAB63388;CAB51603;EAX03465;NP_067007;O95873 Hs.247323 1686830;1773416;2132093;2175166 A007I39;RH78482;RH92454;STS-W74100 D6S53E;G4;NG34 G4 protein;OTTHUMP00000029241;protein G4;uncharacterized protein C6orf47 protein-coding ENSG00000204439 19076 12883 VALIDATED 1347069 C6orf62 chromosome 6 open reading frame 62 6 6 6 p22.3 25938465 25952778 - 24813137 24827382 - 24705089 24719403 - 737633;6480464 12477932 11256614;15489334;14702039;14574404;11230166;16169070;19322201 81688 B4DWX7;Q9GZU0 AB075502;ABBA01066538;AJ420475;AK022681;AK301718;AL031775;AL133264;AL136632;AMYH01016151;AY598792;BC040260;BC047866;CH471087;CR457292;CR533486;NM_030939 AAH47866;AAT09203;ACE86559;ACE87241;BAB14175;BAE45752;BAG63189;CAB66567;CAG33573;CAG38517;EAW55461;EAW55462;EAW55463;EAW55464;NP_112201;Q9GZU0 Hs.9676 1693744;1735590;1768687;1792864;2133526;2173311;5017801 C6orf62;D6S1127E;PMC166143P4;RH44630;RH68224;SGC33935;SHGC-58818 DKFZp564G182;FLJ12619;Nbla00237;XTP12;dJ30M3.2 HBV X-transactivated gene 12 protein;HBV X-transactivated protein 12;HBV XAg-transactivated protein 12;OTTHUMP00000016093;OTTHUMP00000016094;hypothetical protein LOC81688;uncharacterized protein C6orf62 protein-coding 20998 12891 VALIDATED 1319485 C6orf57 chromosome 6 open reading frame 57 6 6 6 q13 71665041 71687022 + 71333346 71355327 + 71276625 71298606 + 6480464 15489334;14574404;12477932;21490949;17207965;20877624 135154 Q5VUM1 ABBA01040269;AL583856;AMYH01016415;BC018085;BC104649;BG703280;CF597237;CH471051;CS300728;NM_145267 AAH18085;AAI04650;ACT64428;ACT64429;ADQ33164;CAK32392;EAW48810;EAW48811;EAW48812;NP_660310;Q5VUM1 Hs.418495 5015861;7185938 D10S16 MGC104225 OTTHUMP00000016704;UPF0369 protein C6orf57;hypothetical protein LOC135154 protein-coding 20957 12888 VALIDATED 1350193 C6orf58 chromosome 6 open reading frame 58 6 6 6 q22.33 128640558 128655201 + 127940012 127954655 + 127898319 127912962 + 6480464 16740002;15489334;14574404;12477932 352999 Q6P5S2 ABBA01025929;AK303850;AL583806;AMYH01016658;BC062712;CH471051;NM_001010905 AAH62712;BAG64792;EAW48094;NP_001010905;Q6P5S2 Hs.226268 MGC72003 OTTHUMP00000017176;UPF0762 protein C6orf58;hypothetical protein LOC352999 protein-coding ENSG00000184530 20960 17379 VALIDATED 1319689 C6orf70 chromosome 6 open reading frame 70 6 6 6 q27 170861896 170891792 + 169893646 169923542 + 170151721 170181617 + 6480464 14702039;12477932;12107410;16344560 55780 F8WAF1;K7EM31;K7EME8;K7EMW5;K7EPX8;K7ER62;K7ERF7;K7ESI0;Q5T6L9 AA909435;ABBA01016120;AI522177;AK001369;AK002014;AK021520;AK294090;AL354892;AMYH01016879;BC044812;CA396814;CH471051;DA650477;NM_001278531;NM_001278532;NM_001278533;NM_018341 AAH44812;AAI48359;BAA91653;BAA92035;BAG57431;EAW47436;EAW47437;EAW47438;NP_001265460;NP_001265461;NP_001265462;NP_060811;Q5T6L9 Hs.47546 1728549;1765855 G63713;SHGC-149278 FLJ11152;dJ266L20.3 OTTHUMP00000017682;OTTHUMP00000017683;transmembrane protein C6orf70 protein-coding ENSG00000130023 21056 18697 VALIDATED 1348833 C6orf89 chromosome 6 open reading frame 89 6 6 6 p21.2 38408678 38451782 + 36961618 37004718 + 36853640 36896740 + 6480464 17461456;16381901;15489336;15489334;14702039;14574404;12975309;12477932;11230166;11076863;21890473;21906983;22930588;23460338;21857995 221477 Q5TDC5;Q5TDC7;Q6UWU4 ABBA01038267;ABBA01038268;AJ420498;AJ420511;AK001957;AK025213;AK058086;AK172780;AK300351;AK315984;AL122034;AMYH01016275;AMYH01016276;AY358637;BC009380;BC021804;BC023605;BC032796;BC050582;BC095423;BC105946;BC105947;BC107489;BX538108;BX647220;CH471081;DQ487761;FR832871;FR832872;NM_152734 AAH23605;AAH95423;AAI05947;AAI05948;AAI07490;AAQ89000;ABF61801;BAB71656;BAD18761;BAG62093;BAH14355;CAD98021;CAL38248;CCA30148;CCA30149;EAX03919;EAX03920;EAX03921;EAX03922;NP_689947;Q6UWU4 Hs.433381 1661067;1666292;1672555;1682451;1688078;1728131;1779184;2128187;2182637;2187817;5020948;5109281 D1S1425;D6S1286;G35510;G63337;G69466;RH35893;RH46642;RH79658;RH94301;SHGC-33920;STS-R62412;WI-14896 BRAP;FLJ25357;MGC126060;MGC126061;MGC126062 OTTHUMP00000016311;OTTHUMP00000016312;OTTHUMP00000016313;amfion;bombesin receptor activated protein;bombesin receptor-activated protein C6orf89;hypothetical protein LOC221477;uncharacterized protein C6orf89 protein-coding 21114 12905 VALIDATED 1351072 C7orf13 chromosome 7 open reading frame 13 7 7 7 q36.3 150858250 150860538 - 156123821 156126109 - 156431060 156433348 - 6480464 14702039;12690205;12477932;11890671 129790 Q8NI28;Q9H3I6 AACC02000068;ABBA01032376;AC005534;AF063598;AF439977;AI168080;AK056371;AMYH01018188;BC031037;BC050364;BC070228;CH236954;CH471149;NR_026865 AAG43157;AAM33252;EAL23919;EAX04550;Q8NI28 Hs.647014 MY040 miscrna ENSG00000244291 17126 12908 610242 VALIDATED 1317752 C7orf25 chromosome 7 open reading frame 25 7 7 7 p14.1 42939193 42942010 - 42915397 42918214 - 42948872 42951689 - 6480464 12477932;12446740;8125298;16169070;17207965;21900206 79020 C9JF90;C9K0L6;Q9BPX7 AACC02000040;ABBA01058178;AC010132;AK024820;AK225194;AK298865;AMYH01017204;BC000769;BC001845;CH236951;CH471073;DC303669;DC366585;NM_001099858;NM_024054 AAH00769;AAH01845;ADQ31787;BAB15019;BAG60985;EAL24004;EAW94148;EAW94149;EAW94150;NP_001093328;NP_076959;Q9BPX7 Hs.698120 1676568 RH94241 FLJ21167;MGC2821 OTTHUMP00000159093;OTTHUMP00000207371;OTTHUMP00000207372;OTTHUMP00000207374;OTTHUMP00000207375;UPF0415 protein C7orf25;hypothetical protein LOC79020 protein-coding ENSG00000136197 21703 09861 VALIDATED 1317399 C7 complement component 7 C7 is a component of the complement system. It participates in the formation of Membrane Attack Complex (MAC). People with C7 deficiency are prone to bacterial infection. [provided by RefSeq, Jul 2008] 5 5 p13 40945356 41018798 + 40909599 40983041 + 1599528;1599522;1599523;1580863;6480464;6907045;7240710 6241952;15724448;12574424 3052276;18029348;3335508;19344414;19221116;19179470;18842294;16335952;15889368;15879120;15489334;15383587;14760718;12595902;12477932;11378347;10886241;10882776;10551839;9856499;9218625;8892662;8871666;8814254;8364540;8345200;7814888;7730625;7523157;2792129;1672663;1517503;1387399;17266113;19913121;20628086;19162005;19419965;19423540;19834535;19864026;19931914;20237496;20406964;20438785;22206826 730 P10643;Q05CI3 ABBA01024227;AC026732;AC114967;AK290349;AK304848;AK312737;AMYH01015049;BC025402;BC041807;BC063851;BC065305;CH471119;J03507;NG_011692;NM_000587;X86328;X86344;Y11720 AAA51861;AAH25402;AAH63851;ADR82762;BAF83038;BAG35608;BAG65588;CAA60121;CAA72407;EAW56007;EAW56008;NP_000578;P10643 Hs.78065 1681356;1745113;1745535;1745537;1795458;2132758 C7_298;D5S2658;GDB:594803;GDB:623672;GDB:623675;RH80221 OTTHUMP00000197104;complement component C7 APPROVED protein-coding ENSG00000112936 1346 01957 217070;610102 REVIEWED 1317700 C7orf10 chromosome 7 open reading frame 10 This gene encodes a protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] 7 7 7 p14.1 40162765 40891115 + 40141100 40866882 + 40174575 40900366 + 6480464 18926513;15489334;14702039;12853948;12690205;12477932;11829489;9847074;19197348;20379614;8889548;20877624;19913121;20628086;23893049;22277967 79783 B7Z568;H0Y4N1;H7C0H3;H7C1N0;Q9HAC7 AACC02000039;AACC02000040;AB014767;ABBA01058154;ABBA01058155;ABBA01058156;ABBA01058157;ABBA01058158;ABBA01058159;ABBA01058160;AC004988;AC005030;AC005160;AC006023;AC025536;AC026866;AC079149;AC092030;AF397013;AK021870;AK296048;AK298516;AK299133;AK307935;AK308764;AMYH01017194;AMYH01017195;AMYH01017196;BC098117;BC098261;BC098310;BC098318;BM668297;CH236951;CH471073;NG_023422;NM_001193311;NM_001193312;NM_001193313;NM_024728 AAD26979;AAH98117;AAH98261;AAH98310;AAH98318;AAL76418;AAS01999;AAS02000;AAS07506;BAB13922;BAB87807;BAG58812;BAG61185;BAH12804;EAL24000;EAW94135;EAW94136;EAW94137;NP_001180240;NP_001180241;NP_001180242;NP_079004;Q9HAC7 Hs.586313 1334988;1337116;1647697;1660147;1709192;1756009;1756017;1768225;1774911;1786408;1788226;1788228;1788230;1790583;2114900;2121014;2122409;2144746;2147290;2156746;2157444;2163473;2164890;2169785;2176911;2181354;2182944;5017539;5037552;5491250;7183801;7186497 123XB10;C7orf10;D1S3168;D7S1468;D7S1472;D7S1587;D7S1769;D7S1930;D7S2328;D7S2524;D7S2541;D7S3090;D7S3091;D7S3094;D8S2279;GDB:1317746;GDB:1317950;GDB:1318090;GDB:1318194;GDB:1318400;GDB:1318489;GDB:4585101;HSC210_(7Gr40mb);MARC_5901-5902:991939787:5;RH45639;SHGC-142826;SHGC-142831;SHGC-171985;SHGC-34401;SHGC-85764 DERP13;FLJ11808;FLJ53872;ORF19 CaiB/baiF CoA-transferase family protein C7orf10;OTTHUMP00000207229;OTTHUMP00000207230;OTTHUMP00000207231;Russel-Silver syndrome candidate;dermal papilla derived protein 13;dermal papilla-derived protein 13 APPROVED protein-coding ENSG00000175600 16001 09859 231690;609187 REVIEWED 1317382 C7orf26 chromosome 7 open reading frame 26 7 7 7 p22.1 6086824 6105263 - 6596440 6614880 + 6629915 6648355 + 6480464 15489334;14702039;12477932;16169070;20133760;21907836 79034 H7BZK9;H7C0Q5;Q96N11 AACC02000124;ABBA01056495;ABBA01056496;AC079742;AK056149;AMYH01017041;BC001076;BC005121;CH236963;CH878731;NM_024067 AAH01076;AAH05121;BAB71104;EAW55021;EAW55022;NP_076972;Q96N11 Hs.487511 1670640;1847113;2117094;2120538;2131161;2142035;2142037 A008D23;D7S2646;GDB:4585098;RH12045;RH48523;SHGC-55949;STS-Z41394 MGC2718 OTTHUMP00000155172;OTTHUMP00000200655;hypothetical protein LOC79034;uncharacterized protein C7orf26 protein-coding ENSG00000146576 21702 12913 PROVISIONAL 1345356 C7orf34 chromosome 7 open reading frame 34 7 7 7 q34 137473461 137474817 + 142346721 142348077 + 142636603 142637957 + 737633 12477932 16189514;15489334;12690205 135927 Q96L11 AACC02000106;AB083483;AB083484;ABBA01034131;AC099652;AI990561;AMYH01018007;BC014596;CH236959;CH471198;NG_007492;NM_178829 AAH14596;BAB88941;BAB88942;EAL23778;EAW51894;EAW51895;NP_849151;Q96L11 Hs.239676 1683235;2121871 D7S2887;RH99241 ctm-1 MSSP-binding protein CTM-1;OTTHUMP00000202176;hypothetical protein LOC135927;uncharacterized protein C7orf34 protein-coding ENSG00000165131 21750 12922 VALIDATED 1349806 C7orf31 chromosome 7 open reading frame 31 7 7 7 p15.3 25163708 25209272 - 25140841 25186342 - 25174316 25219817 - 6480464 15489334;14702039;12853948;12477932;9847074;21832049 136895 C9J431;C9JF06;C9JTB1;Q8N865 AACC02000007;ABBA01056732;AC004129;AK097248;AK098189;AMYH01017122;BC015397;BC043269;BC060879;BI830207;BX640851;CH236948;CH471073;NM_138811 AAH15397;AAH43269;AAH60879;AAP22338;ADZ15585;BAC04985;BAC05255;CAE45919;EAL24238;EAW93825;EAW93826;EAW93827;EAW93828;NP_620166;Q8N865 Hs.122055 2177964 GDB:1317782 OTTHUMP00000158611;OTTHUMP00000202039;hypothetical protein LOC136895;uncharacterized protein C7orf31 protein-coding ENSG00000153790 21722 12919 VALIDATED 1342559 C7orf33 chromosome 7 open reading frame 33 7 7 7 q36.1 142958374 142983626 + 147918590 147943885 + 148287657 148312952 + 6480464 15489334;12690205;12477932 202865 Q8WU49 AACC02000041;ABBA01033596;AC005229;AMYH01018114;BC021251;CH471146;NM_145304 AAH21251;ADZ15654;EAL24420;EAW80075;EAW80076;EAW80077;NP_660347;Q8WU49 Hs.352212 2147894 GDB:3755045 OTTHUMP00000202308;hypothetical protein LOC202865;uncharacterized protein C7orf33 protein-coding ENSG00000170279 21724 12921 PREDICTED 1603878 C7orf41 chromosome 7 open reading frame 41 7 7 7 p14.3 30163906 30191735 + 30141077 30168906 + 30174552 30202381 + 6480464 14702039;12690205;12477932;9847074;17213182;20379614;21832049;21139048;19322201 222166 B8ZZW9;C9JBT1;Q8N3F0 AACC02000087;ABBA01056812;AC007036;AK055466;AK096533;AK294982;AL834391;AMYH01017147;AY054121;BC045592;BC062423;BI560774;CH471073;DT217816;NM_152793 AAI52892;AAI56840;AAL14866;BAC04811;BAG58051;CAD39053;EAL24456;EAW93934;EAW93935;EAW93936;NP_690006;Q8N3F0 Hs.200100 1651715;1659589;1672468;1677923;1679616;1727689;1774128;2131661;2153860 G63258;RH13728;RH28602;RH45752;RH45883;SHGC-31928;SHGC-53497;SHGC-56006;STS-H98629 Ells1;FLJ25903 OTTHUMP00000158708;UPF0452 protein C7orf41;hypothetical protein LOC222166;protein Ells1 protein-coding ENSG00000180354 25457 07635 VALIDATED 1605367 C7orf43 chromosome 7 open reading frame 43 7 7 7 q22.1 94487394 94491646 - 99589979 99594238 - 99752043 99756302 - 6480464 16381901;15489336;15489334;14702039;12690205;12477932;11256614;11230166;11076863;16169070 55262 B3KNS5;C9JMZ9;E9PFF9;F8WFE0;H0Y452;H7C1F8;Q8WVR3 AACC02000084;ABBA01013231;ABBA01013232;AC073842;AK001787;AK054872;AK302342;AK310170;AL136555;AMYH01017728;BC002749;BC015722;BC094727;CH236956;CH471091;NM_018275 AAH02749;AAH15722;BAA91911;BAG51437;BAG63670;CAB66490;CAL37853;EAL23848;EAW76580;EAW76581;EAW76582;EAW76583;NP_060745;Q8WVR3 Hs.533139 1774863;2134644 D7S2925;WI-20780 DKFZp761G0712;FLJ10925 OTTHUMP00000206833;OTTHUMP00000206843;OTTHUMP00000206870;hypothetical protein LOC55262;uncharacterized protein C7orf43 protein-coding ENSG00000146826 25604 07716 PREDICTED 1602100 C7orf49 chromosome 7 open reading frame 49 7 7 7 q33 129588008 129593008 - 134501077 134505987 - 134850532 134855578 - 6480464 17043244;16344560;12690205;12477932;15342556;8889548 78996 C9JKC7;Q9BWK5 AACC02000025;ABBA01001113;AC083862;AI632984;AK026103;AK130795;AL708733;AMYH01017955;BC000168;BC067350;BE674385;BG770658;BM727569;BP213903;BQ423284;CB961457;CH236950;CH471070;DA213716;DB129229;NM_001243749;NM_001243751;NM_001243752;NM_001243753;NM_001243754;NM_001243755;NM_024033 AAH00168;AAH67350;BAC85431;EAL24064;EAW83840;EAW83841;NP_001230678;NP_001230680;NP_001230681;NP_001230682;NP_001230683;NP_001230684;NP_076938;Q9BWK5 Hs.521213;Hs.732134 1685542;1697316;1735648 D7S2063E;RH102155;RH80739 FLJ22450;FLJ27285;MGC5242;MRI OTTHUMP00000208012;OTTHUMP00000208013;modulator of retrovirus infection homolog protein-coding ENSG00000122783 22432 08333 VALIDATED 1606950 C7orf55 chromosome 7 open reading frame 55 7 7 7 q34 133764065 133768709 + 138676615 138681605 + 139025196 139031065 + 6480464 16381901;15489336;14702039;12853948;12477932;11076863;8889548;20877624;16712791 154791 Q96HJ9 AA393224;AA620996;AACC02000025;ABBA01001188;AC083880;AF161386;AK093018;AMYH01017976;BC008467;BI117784;BM672187;BU852633;CB125801;CH236950;CH471070;NG_030012;NM_197964;NR_073058;NR_073059;NR_073060 AAF28946;AAH08467;AAS07478;ABM84075;ABM87443;CAL38025;EAW83912;EAW83913;EAW83914;EAW83915;NP_932068;Q96HJ9 Hs.718441 1650458;5015619;5015961;5022322;5022651;5024756;5037552 D11S2560;D11S2921;D11S3114;D15S1477;D8S2279;RH80030;SHGC-56728 FLJ35699;FMC1;HSPC268 OTTHUMP00000200424;UPF0562 protein C7orf55;formation of mitochondrial complexes 1 homolog protein-coding ENSG00000164898 26946 13714 VALIDATED 1603950 C7orf50 chromosome 7 open reading frame 50 7 7 7 p22.3 1004263 1143944 - 1003168 1144360 - 1036623 1177893 - 6480464 20834067;16341674;16189514;15146197;12477932;8889548;21145461;18482256;21832049;22990118;16196087;19471022;19953087;21139048;21907836;21628590 84310 C9JQV0;H7C0T1;H7C2R9;Q9BRJ6 AACC02000050;AACC02000129;AACC02000130;ABBA01039315;ABBA01039316;ABBA01039317;ABBA01039318;ABBA01039319;ABBA01039320;AC073957;AC091729;AF495721;AMYH01016946;AMYH01016947;AMYH01016948;AMYH01016949;AMYH01016950;AMYH01016951;AMYH01016952;BC006224;BC025971;BM676072;BM763235;CH236953;CH236965;CH471144;CN261680;NM_001134395;NM_001134396;NM_032350 AAH06224;AAH25971;AAQ06675;EAW87188;EAW87189;EAW87190;NP_001127867;NP_001127868;NP_115726;Q9BRJ6 Hs.653258;Hs.732316 1697044;1765393;1765933;1774795;1775742;1797604;1856229;2120030;2135708;2142692;2166947;2167318;5017686 D7S2090E;D7S2826;GPR146_2063;GPR30;RH102001;RH11876;RH65680;RH70704;SHGC-148880;SHGC-149337;SHGC-32510;SHGC-34866;STS-N27306 MGC11257;YCR016W OTTHUMP00000200082;OTTHUMP00000200083;OTTHUMP00000200084;OTTHUMP00000200094;OTTHUMP00000213381;hypothetical protein LOC84310;hypothetical protein mgc11257;uncharacterized protein C7orf50 protein-coding ENSG00000146540 22421 14413 VALIDATED 1602147 C7orf61 chromosome 7 open reading frame 61 7 7 7 q22.1 94784037 94791693 - 99892174 99899830 - 100054238 100061894 - 12690205;12477932;17207965 402573 H7C3K1;Q8IZ16 AACC02000084;ABBA01013210;ABBA01013211;ABBA01013212;ABBA01013213;AC092849;AMYH01017735;BC031966;CH236956;NM_001004323 AAH31966;ADQ32435;EAL23832;NP_001004323;Q8IZ16 Hs.632306 1339079;1652662;1682351;1759619;7187384 D7S2480;GDB:1317218;RH92106;SHGC-153234 OTTHUMP00000196705;hypothetical protein LOC402573;uncharacterized protein C7orf61 protein-coding ENSG00000185955 22135 17558 PREDICTED 2303475 C7orf65 chromosome 7 open reading frame 65 7 7 7 p12.3 47795219 47801624 + 47661402 47665351 + 47694842 47701246 + 16344560;12690205 401335 Q6ZTY9 AACC02000093;ABBA01041094;AC095067;AK126096;AMYH01017229;CH236958;DB341636;NM_001123065 BAC86438;EAL23804;NP_001116537;Q6ZTY9 Hs.520816 5015619;5022578;5037552 D11S3114;D1S1423;D8S2279 FLJ44108 protein;OTTHUMP00000208225;hypothetical protein LOC401335;uncharacterized protein C7orf65 protein-coding ENSG00000221845 34432 VALIDATED 1642900 C7orf57 chromosome 7 open reading frame 57 7 7 7 p12.3 48174395 48200108 + 48041642 48067418 + 48075108 48100894 + 6480464 19193627;12477932;20379614 136288 C9JQZ6;F5H7J8;J3KQX6;Q86XB5;Q8NEG2 AACC02000093;ABBA01041079;ABBA01041080;AC069279;AMYH01017234;BC031107;BC045737;BI560654;CH236958;NM_001100159;NM_001267865;NM_001267866 AAH31107;AAH45737;NP_001093629;NP_001254794;NP_001254795;Q8NEG2 Hs.258357 OTTHUMP00000208687;OTTHUMP00000208689;OTTHUMP00000208690;hypothetical protein LOC136288;uncharacterized protein C7orf57 protein-coding ENSG00000164746 22247 VALIDATED 1606444 C7orf66 chromosome 7 open reading frame 66 7 7 7 q31.1 103336979 103337578 - 108311274 108311873 - 108524038 108524637 - 12690205;9887257;22006218;22219177 154907 A4D0T2 AACC02000004;ABBA01057887;AC004014;AF103078;AF103195;AMYH01017840;CH236947;NM_001024607 A4D0T2;AAD16519;AAD30755;EAL24381;NP_001019778 Hs.276325;Hs.638689 1704602 SHGC-83114 OTTHUMP00000206841;Putative uncharacterized protein LOC154907;hypothetical protein LOC154907;uncharacterized protein C7orf66;uncharacterized protein LOC154907-like protein-coding ENSG00000205174 33712 18563 PREDICTED 1606951 C7orf60 chromosome 7 open reading frame 60 7 7 7 q31.1 107271822 107392595 - 112246438 112367168 - 112459202 112579932 - 6480464 18951430;16344560;14702039;12477932;20379614 154743 H0Y6Y0;Q1RMZ1 AACC02000001;ABBA01057838;ABBA01057839;ABBA01057840;ABBA01057841;AC018464;AC073183;AF274937;AK056380;AK299901;AL834437;AMYH01017862;BC114615;CH236947;CH471070;DA738444;NM_152556 AAI14616;BAB71169;BAG61743;CAD39097;EAW83473;EAW83474;NP_689769;Q1RMZ1 Hs.489734 1852676;2147601 D7S2885;G17120 FLJ31818 OTTHUMP00000207494;OTTHUMP00000207495;UPF0532 protein C7orf60;hypothetical protein LOC154743;probable methyltransferase BTM2 homolog protein-coding ENSG00000164603 26475 08108 VALIDATED 2902413 C7orf72 chromosome 7 open reading frame 72 7 7 7 p12.2 50229773 50293484 + 50106348 50169398 + 50135682 50198852 + 6480464 12690205;12853948;20379614 100130988 A4D263 AACC02000076;ABBA01008171;AC020743;AC034148;AI696031;AMYH01017244;BX092263;CH236955;DY654485;NM_001161834 A4D263;EAL23902;NP_001155306 Hs.99248 OTTHUMP00000208843;hypothetical protein LOC100130988;uncharacterized protein C7orf72 protein-coding 22564 VALIDATED 1603879 C7orf62 chromosome 7 open reading frame 62 7 7 7 q21.13 83128231 83129842 - 88261357 88262967 - 88423420 88425031 - 12690205;12477932;17207965;22493691 219557 Q8TBZ9 AACC02000015;ABBA01045858;AC002127;AMYH01017673;BC028365;CH236949;CH471091;HC007144;HC044757;NM_152706 AAH28365;ADQ31577;CBH19377;CBH30708;EAL24169;EAW76902;NP_689919;Q8TBZ9 Hs.112877 MGC26647 OTTHUMP00000204499;hypothetical protein LOC219557;uncharacterized protein C7orf62 protein-coding ENSG00000164645 22402 14507 VALIDATED 1605032 C7orf69 chromosome 7 open reading frame 69 7 7 7 p12.3 47933226 47957778 + 47801414 47825970 + 47834889 47859445 + 12690205;12853948;12477932 80099 C9JS17;Q9H7B7 AACC02000093;ABBA01041084;AC019066;AC069282;AK024728;AMYH01017230;AMYH01017231;BC113679;BC113681;CA420605;CH236958;CH471128;NM_025031 AAI13680;AAI13682;AAS07564;BAB14977;EAL23806;EAW61008;NP_079307;Q9H7B7 Hs.287647 FLJ21075 OTTHUMP00000208381;hypothetical protein LOC80099;uncharacterized protein C7orf69 protein-coding ENSG00000136275 21911 08635 VALIDATED 3030166 C7orf71 chromosome 7 open reading frame 71 7 7 7 p15.2 26666461 26675896 + 26644015 26653493 + 26677490 26686924 + 12107410;12477932;12690205;14702039 285941 A4D174 AACC02000007;ABBA01056751;AC003999;AK093321;AMYH01017129;AMYH01017130;BC112220;BC112222;BC143810;CA390440;CH236948;NM_001145531 A4D174;EAL24232;NP_001139003 Hs.413394 1652932 STS-N29318 OTTHUMP00000202568;hypothetical protein LOC285941;putative uncharacterized protein C7orf71;uncharacterized protein LOC285941 protein-coding ENSG00000222004 22364 PREDICTED 1604426 C7orf76 chromosome 7 open reading frame 76 7 7 7 q21.3 90810971 90832868 - 95948874 95970771 - 96110938 96132835 - 12477932;19801982;22504420 401388 B7ZVW6;Q6ZVN7 AACC02000013;ABBA01045766;AC092031;AK124274;AMYH01017701;BC140736;BC171740;CH236949;NM_001201450;NM_001201451 AAI40737;AAI71740;BAC85824;NP_001188379;NP_001188380;Q6ZVN7 Hs.734935 hypothetical protein LOC401388;putative uncharacterized protein C7orf76;putative uncharacterized protein FLJ42280 APPROVED protein-coding ENSG00000197851 33815 16959 VALIDATED 1352674 C8B complement component 8, beta polypeptide This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 1 1 p32.2 57167471 57204276 - 57394883 57431688 - 1600501;1580863;6480464;6907045;7240710 7515561 3052276;2820472;19344414;18842294;16710414;16618117;16335952;16199891;12477932;12413696;12220191;11041874;10551839;10387094;9476128;8345200;19162005;19423540;8131848;8098723;7440581;3651397;3624872;3171181;19864026;20237496;20406964;20438785;1360193;16624411;21073882;21454577;2284574;2571125;2613233;2759635;3435043;3676249;3879968;451601;468996;6415112;7594510;7710765;8020197;8365729;9165271;9476133 732 F5GY80;F5H7G1;P07358;Q05CV3 ABBA01074676;AK292740;AK298425;AK298444;AK313382;AK316209;AL121998;AMYH01000645;BC020701;BC130575;CD364465;CH471059;M16973;NG_007285;NM_000066;NM_001278543;NM_001278544;X04393 AAA51862;AAH20701;AAI30576;ADR83218;BAF85429;BAG36180;BAH12786;BAH12791;BAH14580;CAA27981;EAX06641;EAX06642;EAX06643;NP_000057;NP_001265472;NP_001265473;P07358 Hs.391835 1652324;1658705;1669058;1722349;1742987;1743585;1777699;2120524;2172444;2178855 D1S519;G60243;GDB:228022;GDB:352688;L17910;SHGC-33530;SHGC-74868;SHGC-74885;SHGC-74888;WI-8974 C82;MGC163447 OTTHUMP00000010015;complement component 8 subunit beta;complement component C8 beta chain APPROVED protein-coding ENSG00000021852 1353 00410 120960;613789 REVIEWED 1352401 C8orf16 chromosome 8 open reading frame 16 8 p23.1 11021390 11025155 - 83735 AF131215;AJ312026;CH471157;NM_001014439 CAC84873;EAW65603;NP_001014439;Q8TCU9 Hs.660259 miscrna 15628 18701 1605631 C7orf63 chromosome 7 open reading frame 63 7 7 7 q21.13 84578592 84644463 + 89712461 89777624 + 89874488 89940377 + 6480464 18288132;14702039;12477932;8889548;20379614 79846 A5D8W1;F8WBX7;H7BZV2;H7C002;H7C076;H7C3Z7;H7C468 AACC02000015;ABBA01045840;ABBA01045841;AC002064;AK024715;AK093991;AK302636;AK303034;AL833446;AMYH01017680;AMYH01017681;AY349356;BC036351;BC132771;BC140742;BC141834;BC142655;BF112239;BU676209;CH236949;DC402406;NM_001039706;NM_001160138 A5D8W1;AAH36351;AAI32772;AAI40743;AAI41835;AAI42656;AAQ56720;BAB14972;BAG63878;BAG64159;NP_001034795;NP_001153610 Hs.657403 1670164;1735700;1800462;1803324;1806462;1806960;1807910;1808616;1808618;1808970;1809408;1809856;1809858;1810420;1812944;1814484;1815000;1816636;1820134;1820292;1821204;1822812;1823674;1824424;1825526;1829232;1829836;1830246;1830484;1831334;1831610;1832030;1832306;1832672;1833378;1833588;1833912;1834312;1835864;1836334;1836712;1836828;1837198;1837248;1837664;1838004;1838884;1839358;1840074;1840210;1840592;1840808;1841206;1843742;1843976;1844332;1844928;1845310;1846060;1846820;1858438;2070414;2070416;2070418;2070420;2070422;2070424;2070426;2070428;2070430;2070432;2070434;2070436;2070438;2070440;2070442;2070444;2070446;2070448;2070450;2070452;2070454;2070456;2070458;2070460;2070462;2070464;2070466;2070468;2070470;2070472;2070474;2070476;2070478;2070480;2070482;2070484;2070486;2070488;2070490;2070492;2070494;2070496;2070498;2070500;2070502;2070504;2070506;2070508;2070510;2070512;2070514;2070516;2070518;2070520;2070522;2070524;2070526;2070528;2070530;2070532;2070534;2070536;2070538;2070540;2070542;2070544;2070546;2070548;2070550;2070552;2070554;2070556;2070558;2070560;2070562;2070564;2070566;2070568;2070570;2070572;2070574;2070576;2070578;2070580;2070582;2070584;2070586;2070588;2070590;2070592;2070594;2070596;2070598;2070600;2070602;2070604;2070606;2070608;2070610;2070612;2070614;2070616;2070618;2070620;2070622;2070624;2070626;2070628;2070630;2070632;2070634;2070636;2070638;2070640;2070642;2070644;2070646;2070648;2070650;2070652;2070654;2070656;2070658;2070660;2070662;2070664;2070666;2070668;2070670;2070672;2070674;2070676;2070678;2070680;2070682;2070684;2070686;2070688;2070690;2070692;2070694;2070696;2070698;2070700;2070702;2070704;2070706;2070708;2070710;2070712;2070714;2070716;2070718;2070720;2070722;2070724;2070726;2070728;2070730;2070732;2070734;2070736;2070738;2070740;2070742;2070744;2070746;2070748;2070750;2070752;2070754;2070756;2070758;2070760;2070762;2070764;2070766;2070768;2070770;2070772;2070774;2070776;2070778;2070780;2070782;2070784;2070786;2070788;2070790;2070792;2070794;2070796;2070798;2070800;2070802;2070804;2070806;2070808;2070810;2070812;2070814;2070816;2070818;2070820;2070822;2070824;2070826;2070828;2070830;2070832;2070834;2070836;2070838;2070840;2070842;2070844;2070846;2070848;2070850;2070852;2070854;2070856;2070858;2070860;2070862;2070864;2070866;2070868;2070870;2070872;2070874;2070876;2070878;2070880;2070882;2070884;2070886;2070888;2070890;2070892;2070894;2070896;2070898;2070900;2070902;2070904;2070906;2070908;2070910;2070912;2070914;2070916;2070918;2070920;2070922;2070924;2070926;2070928;2070930;2070932;2070934;2070936;2070938;2070940;2070942;2070944;2070946;2070948;2070950;2070952;2070954;2070956;2070958;2070960;2070962;2070964;2070966;2070968;2070970;2070972;2070974;2070976;2070978;2070980;2070982;2070984;2070986;2070988;2070990;2070992;2070994;2070996;2070998;2071000;2071002;2071004;2071006;2194066;2194068;2194070;2194072;2194074;2194076;2194078;2194080;2194082;2194084;2194086;2194088;2194090;2194092;2194094;2194096;2194098;2194100;2194102;2194104;2194106;2194108;2194110;2194112;2194114;2194116;2194118;2194120;2194122;2194124;2194126;2194128;2194130;2194132;2194134;2194136;2194138;2194140;2194142;2194144;2194146;2194148;2194150;2194152;2194154;2194156;5014019;5015861;5019046;5020948;5022578;7185938 D10S16;D1S1423;D5S2354;D7S1641;D7S2152E;ECD01091;ECD02558;ECD04187;ECD04445;ECD04930;ECD05290;ECD05291;ECD05468;ECD05696;ECD05920;ECD05921;ECD06203;ECD07486;ECD08272;ECD08531;ECD09361;ECD11141;ECD11221;ECD11679;ECD12494;ECD12929;ECD13310;ECD13871;ECD15745;ECD16051;ECD16257;ECD16377;ECD16803;ECD16942;ECD17153;ECD17292;ECD17477;ECD17832;ECD17938;ECD18102;ECD18304;ECD19093;ECD19329;ECD19520;ECD19578;ECD19766;ECD19791;ECD19999;ECD20173;ECD20621;ECD20861;ECD21221;ECD21289;ECD21486;ECD21596;ECD21798;ECD23082;ECD23200;ECD23380;ECD23680;ECD23872;ECD24250;G17188;G35510;G43535;REN106398;REN106399;REN106400;REN106401;REN106402;REN106403;REN106404;REN106405;REN106406;REN106407;REN106408;REN106409;REN106410;REN106411;REN106412;REN106413;REN106414;REN106415;REN106416;REN106417;REN106418;REN106419;REN106420;REN106421;REN106422;REN106423;REN106424;REN106425;REN106426;REN106427;REN106428;REN106429;REN106430;REN106431;REN106432;REN106433;REN106434;REN106435;REN106436;REN106437;REN106438;REN106439;REN106440;REN106441;REN106442;REN106444;REN106445;REN106446;REN106447;REN106448;REN106449;REN106450;REN106451;REN106452;REN106453;REN106454;REN106455;REN106456;REN106457;REN106458;REN106459;REN106460;REN106461;REN106462;REN106463;REN106464;REN106465;REN106466;REN106467;REN106468;REN106469;REN106470;REN106471;REN106472;REN106473;REN106474;REN106475;REN106476;REN106477;REN106478;REN106479;REN106480;REN106481;REN106482;REN106483;REN106484;REN106485;REN106486;REN106487;REN106488;REN106489;REN106490;REN106491;REN106492;REN106493;REN106494;REN106495;REN106496;REN106497;REN106498;REN106499;REN106500;REN106501;REN106502;REN106503;REN106504;REN106505;REN106506;REN106507;REN106508;REN106509;REN106510;REN106511;REN106512;REN106513;REN106514;REN106515;REN106516;REN106517;REN106518;REN106519;REN106520;REN106521;REN106522;REN106523;REN106524;REN106525;REN106526;REN106527;REN106528;REN106529;REN106530;REN106531;REN106532;REN106533;REN106534;REN106535;REN106536;REN106537;REN106538;REN106539;REN106540;REN106541;REN106542;REN106543;REN106544;REN106545;REN106546;REN106547;REN106548;REN106549;REN106550;REN106551;REN106552;REN106553;REN106554;REN106555;REN106556;REN106557;REN106558;REN106559;REN106560;REN106561;REN106562;REN106563;REN106564;REN106565;REN106566;REN106567;REN106568;REN106569;REN106570;REN106571;REN106572;REN106573;REN106574;REN106575;REN106576;REN106577;REN106578;REN106579;REN106580;REN106581;REN106582;REN106583;REN106584;REN106585;REN106586;REN106587;REN106588;REN106589;REN106590;REN106591;REN106592;REN106593;REN106594;REN106595;REN106596;REN106597;REN106598;REN106599;REN106600;REN106601;REN106602;REN106603;REN106604;REN106605;REN106606;REN106607;REN106608;REN106609;REN106610;REN106611;REN106612;REN106613;REN106614;REN106615;REN106616;REN106617;REN106618;REN106619;REN106620;REN106621;REN106622;REN106623;REN106624;REN106625;REN106626;REN106627;REN106628;REN106629;REN106630;REN106631;REN106632;REN106633;REN106634;REN106635;REN106636;REN106637;REN106638;REN106639;REN106640;REN106641;REN106642;REN106643;REN106644;REN106645;REN106646;REN106647;REN106648;REN106649;REN106650;REN106651;REN106652;REN106653;REN106654;REN106655;REN106656;REN106657;REN106658;REN106659;REN106660;REN106661;REN106662;REN106663;REN106664;REN106665;REN106666;REN106667;REN106668;REN106669;REN106670;REN106671;REN106672;REN106673;REN106674;REN106675;REN106676;REN106677;REN106678;REN106679;REN106680;REN106681;REN106682;REN106683;REN106684;REN106685;REN106686;REN106687;REN106688;REN106689;REN106690;REN106691;REN106692;REN106693;REN106694;REN106695;STS-AA035745;stSG614497;stSG614498;stSG614499;stSG614500;stSG614501;stSG614502;stSG614503;stSG614504;stSG614505;stSG614506;stSG614507;stSG614508;stSG614509;stSG614510;stSG614512;stSG614513;stSG614514;stSG614515;stSG614516;stSG614517;stSG614518;stSG614519;stSG614520;stSG614521;stSG614522;stSG614523;stSG614524;stSG614525;stSG614526;stSG614527;stSG614528;stSG614529;stSG614530;stSG614531;stSG614532;stSG614533;stSG614534;stSG614535;stSG614536;stSG614537;stSG614538;stSG614539;stSG614541;stSG614542;stSG614543;stSG614544 FLJ21062 OTTHUMP00000067737;OTTHUMP00000212899;hypothetical protein LOC79846;uncharacterized protein C7orf63 protein-coding ENSG00000105792 26107 08633 VALIDATED 1354286 C8orf17 chromosome 8 open reading frame 17 56988 Q9NRJ1 AF220264;NM_020237 17737 2300134 C8orf28 chromosome 8 open reading frame 28 q21.3 552862 BI767459 Hs.674222 chromosome 8 open reading frame 28 protein-coding 25912 2300133 C8orf29 chromosome 8 open reading frame 29 p12 552863 BQ426089 Hs.583797 chromosome 8 open reading frame 29 protein-coding 15681 1318077 C8A complement component 8, alpha polypeptide C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008] 1 1 p32 57093065 57156482 + 57320443 57383894 + 1600501;1580863;6480464;6907045;7240710 7515561 3052276;6771072;2820471;12413696;19048311;18842294;18440555;17872444;16935577;16761437;16710414;16618117;16335952;12477932;12463754;12220191;11297196;11041874;10551839;10387094;9759902;9647238;7759071;7649542;7544344;7440581;4063341;3624872;3171181;1551680;19423540;20237496;20379614;20406964;20438785;19913121;20628086;21507937 731 P07357;Q05CV2 ABBA01074676;AK309596;AL121998;AMYH01000645;BC020702;BC132911;BC132913;CH471059;M16974;NG_012049;NM_000562;U08006 AAA52200;AAA82124;AAH20702;AAI32912;AAI32914;ADR83082;EAX06644;EAX06645;EAX06646;NP_000553;P07357 Hs.93210 1658627;1709886;1718245;1760639;1797340;2159336;2163445 C8A_1366;D1S3432;RH122892;RH17669;RH64775;SHGC-144179;SHGC-84784 OTTHUMP00000010016;complement component 8 subunit alpha;complement component C8 alpha chain APPROVED protein-coding ENSG00000157131 1352 00409 120950;613790 REVIEWED 5480038 C7orf73 chromosome 7 open reading frame 73 7 7 q33 134997446 135011700 + 135347221 135361160 + 6480464 12477932;16344560;17720804;8889548 647087 E0CX11 AACC02000025;ABBA01001123;ABBA01001124;AC091736;AC093107;AMYH01017959;BC016741;BC021734;BC031327;BC047474;BC063529;BC073942;BC107765;BM979743;CH236950;DA785733;NM_001130929 E0CX11;NP_001124401 Hs.200022 1643939;1682245;1744281;1762395;1776607 GDB:451559;RH26240;RH68700;SHGC-146230;STS-H98777 PL-5283 OTTHUMP00000221117;PL-5283 protein;uncharacterized protein C7orf73 protein-coding 41909 VALIDATED 1353709 C8orf12 chromosome 8 open reading frame 12 8 8 8 p23.1 10353939 10425009 + 11263321 11333577 + 11225911 11296166 + 12477932;11896452;20125193 83656 Q96KT0 ABBA01026880;ABBA01026881;AF131216;AJ301563;AMYH01018480;BC080558;CH471157;NR_026814 CAC82739;EAW65615;Q96KT0 Hs.583896 1340902;1658235;1713179;1850746;2119439;2174336;5093498 A009P42;D8S265;G32753;RH120376;RH66428;SGC33822;STS-W67504 miscrna ENSG00000184608 15548 PREDICTED 1319211 C8G complement component 8, gamma polypeptide The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha and beta play a role in complement-mediated bacterial killing, the gamma subunit is not required for the bactericidal activity. [provided by RefSeq, Jul 2011] 9 9 q34.3 138959534 138961240 + 139839698 139841426 + 1580863;6480464;6907045 8172891;3052276;19048311;18440555;17452033;16935577;16618117;16341674;15164053;12477932;12413696;12220191;12033936;11058761;11041874;10387094;9476128;8865989;3676249;2447883;2446620;1707134;19423540;20406964;20438785 733 P07360;Q5SQ08 ABBA01022733;AL807752;AMYH01021881;AW663384;BC113624;BC113626;BM852158;BX282392;CH471090;M17263;M17999;NG_029580;NM_000606;U08198;X06465 AAA18482;AAA51863;AAA51888;AAI13625;AAI13627;ADR83494;CAA29773;EAW88316;NP_000597;P07360 Hs.1285 2158636;5492759;5493443 UniSTS:482381;UniSTS:486325;WI-6981 C8C;MGC142186 OTTHUMP00000022634;complement component C8 gamma chain APPROVED protein-coding ENSG00000176919 1354 00407 120930 REVIEWED 1605484 C8orf15 chromosome 8 open reading frame 15 8 p23.1 11018292 11019012 - 12477932 439940 AF131215;AJ312027;BC132953;BC132979;CH471157;NM_001033662 AAI32954;AAI32980;CAC84874;EAW65602;NP_001028834;Q8TCU8 Hs.661517 protein-coding 15627 1606663 C8orf31 chromosome 8 open reading frame 31 8 8 8 q24.3 140430937 140445971 + 144192054 144207095 + 144120679 144135720 + 14702039;12477932 286122 Q8N9H6 ABBA01005274;ABBA01005275;AC083982;AK094450;AMYH01019098;BC063497;BC073830;BC120993;CH471162;NM_173687 AAH73830;BAC04358;EAW82281;EAW82282;EAW82283;NP_775958;Q8N9H6 Hs.660382 5037552 D8S2279 FLJ37131;MGC90155 OTTHUMP00000227437;hypothetical protein LOC286122;uncharacterized protein C8orf31 protein-coding ENSG00000177335 26731 08781 PREDICTED 1349468 C8orf22 chromosome 8 open reading frame 22 8 8 8 q11 45972114 45975853 + 50147456 50151195 + 49966895 49988642 + 6480464 15489334;12477932;11329013;16344560 492307 Q8WWR9 ABBA01041660;AC044893;AJ276240;AMYH01018706;BC017981;BG202040;BX500169;CH471068;DA820911;DA900243;NM_001007176;NM_001256596;NM_001256597;NM_001256598 AAH17981;ACT64579;ACT64580;CAC81690;EAW86701;EAW86702;EAW86703;NP_001007177;NP_001243525;NP_001243526;NP_001243527;Q8WWR9 Hs.49890;Hs.741050 1700524;1735446;1735740 D5S1577E;D8S1355E;RH103883 OTTHUMP00000226209;OTTHUMP00000226210;OTTHUMP00000226211;OTTHUMP00000226294;exocrine differentiation and proliferation factor-like protein;pancreatic progenitor cell differentiation and proliferation factor-like protein protein-coding ENSG00000168333 31745 16670 VALIDATED 1606509 C8orf33 chromosome 8 open reading frame 33 8 8 8 q24.3 142454766 142458407 + 146248630 146252220 + 146277824 146281416 + 6480464 16344560;12477932;21145461;16169070;21832049;21900206;21139048;21907836 65265 Q9H7E9 ABBA01005190;AC139103;AF086170;AK024642;AMYH01019165;BC010001;BC015181;BX648996;CH471162;CR457330;DA467518;NM_023080 AAH10001;AAH15181;BAB14943;CAG33611;EAW82022;EAW82023;NP_075568;Q9H7E9 Hs.169615 1677568 RH65235 FLJ20989 OTTHUMP00000229101;UPF0488 protein C8orf33;hypothetical protein LOC65265 protein-coding ENSG00000182307 26104 07951 VALIDATED 1605303 C8orf34 chromosome 8 open reading frame 34 8 8 8 q13 65343493 65724632 + 69512702 69893811 + 69242957 69731258 + 6480464 14702039;12477932;8889548;22664479;23314748;21732829;23251661 116328 E5RJD9;Q49A92 AB056652;ABBA01041912;ABBA01041913;ABBA01041914;AC011884;AC067871;AC083967;AC090096;AK094191;AK094650;AK291436;AL834454;AMYH01018779;BC041961;BC143425;BM684412;CH471068;NM_001195639;NM_052958 AAH41961;BAB64433;BAC04304;BAC04395;BAF84125;CAD39114;EAW86945;EAW86946;EAW86947;EAW86948;EAW86949;NP_001182568;NP_443190;Q49A92 Hs.491941 1338544;1647742;1704528;1705114;1711290;1720863;1734080;1749163;1750477;1752431;1767627;1786546;1850408;2114198;2139426;2148262;2152111;5021872;5037552 D7S2658;D8S1380E;D8S1495;D8S1582;D8S1792;D8S2279;D8S23;G32204;G59259;RH18165;SHGC-106363;SHGC-110852;SHGC-111385;SHGC-111787;SHGC-79977;SHGC-83060;SHGC-84172;WI-20666;sY3084 DKFZp547E186;FLJ36872;FLJ37331;VEST1 A830018L16Rik;OTTHUMP00000226698;OTTHUMP00000226700;OTTHUMP00000226701;hypothetical protein LOC116328;protein VEST-1;uncharacterized protein C8orf34;vestibule 1;vestibule-1 protein protein-coding ENSG00000165084 30905 18281 VALIDATED 7243524 C8orf44-SGK3 C8orf44-SGK3 readthrough This locus represents naturally occurring read-through transcription between the neighboring putative uncharacterized protein C8orf44 (GeneID 56260) and serine/threonine-protein kinase Sgk3 (GeneID 23678) genes on chromosome 8. The read-through transcript produces a protein that shares sequence identity with the downstream gene product. [provided by RefSeq, Feb 2011] 10548550;10585774;12397388;14702039;15489334;16460280;16790420;16959974;17344846;20967262 100533105 Q96BR1 ABBA01041876;ABBA01041877;ABBA01041878;ABBA01041879;ABBA01041880;ABBA01041881;ABBA01041882;AC011031;AC090154;AMYH01018773;AMYH01018774;NM_001204173 NP_001191102;Q96BR1 Hs.613417 1855803;2118769;5014740;5015619;5015961;5022322;5037552 D11S2560;D11S3114;D15S1477;D17S610;D8S2279;SHGC-36195;STS-H98714 cytokine-independent survival kinase;serine/threonine-protein kinase Sgk3;serum/glucocorticoid-regulated kinase 3 protein-coding 48354 VALIDATED 1606135 C8orf37 chromosome 8 open reading frame 37 This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012] 8 8 8 q22.1 92443250 92466452 - 96327411 96350613 - 96257141 96281462 - 14702039;12477932;20379614;16344560;22177090;20301590;23251661 157657 F4Y588;Q96NL8 AA897574;ABBA01037480;AC024995;AK055162;AMYH01018901;AP003466;BC036855;BC150301;CH471060;DA473498;DB205618;GQ240139;NG_032804;NM_177965 AAI72331;ADE62519;BAB70866;EAW91744;EAW91745;NP_808880;Q96NL8 Hs.548157 1675804;1777927;5020948 G35510;RH99292;SHGC-56949 CORD16;FLJ30600;RP64;smalltalk OTTHUMP00000227184;hypothetical protein LOC157657;protein C8orf37;uncharacterized protein C8orf37 APPROVED protein-coding ENSG00000156172 27232 14104 614477;614500 REVIEWED 1349776 C8orf5 chromosome 8 open reading frame 5 203080 AJ305312;NM_182754 15539 1606262 C8orf44 chromosome 8 open reading frame 44 8 8 8 q13.1 63581240 63586021 + 67751008 67755789 + 67579787 67593384 + 6480464 15489334;14702039;12477932;16344560 56260 E5RJQ3;Q96CB5 AA551208;ABBA01041876;AC090154;AK002129;AMYH01018773;BC014448;CH471068;DA341401;NM_019607 AAH14448;BAA92096;EAW86917;EAW86918;NP_062553;Q96CB5 Hs.661238 FLJ11267 OTTHUMP00000226970;OTTHUMP00000226971;putative uncharacterized protein C8orf44 protein-coding ENSG00000213865 25646 07744 VALIDATED 1601950 C8orf57 chromosome 8 open reading frame 57 q21.3 11230166 84257 Q9BQG3 AL136588 CAB66523;Q9BQG3 Hs.492187 DKFZp761D112 protein-coding 25411 1346279 C8orf4 chromosome 8 open reading frame 4 This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. The encoded protein may also play a role in the NF-kappaB and ERK1/2 signaling pathways. Expression of this gene may play a role in the proliferation of several types of cancer including thyroid cancer, breast cancer and hematological malignancies. [provided by RefSeq, Nov 2011] 8 8 p11.2 40130146 40131978 + 40010987 40012827 + 6480464 17520678;18959821;17905836;17603013;22658654;17178857;16740781;16424001;15489334;15185345;15087392;12477932;11056052;8889548;17207965;19684084;20878554;21139048;19322201;23377761 56892 Q9NR00 ABBA01015904;AC022733;AF268037;AF268038;AI861861;AI935347;AK026240;AMYH01018657;BC020623;BC021672;BM976768;BX434108;CH471080;NM_020130 AAF78961;AAH20623;AAH21672;ACE87044;ACE87727;ADQ33213;EAW63268;NP_064515;Q9NR00 Hs.591849;Hs.644772 1698842 RH102985 MGC22806;TC-1;TC1;hTC-1 OTTHUMP00000225689;human thyroid cancer 1;thyroid cancer protein 1;thyroid cancer-1;uncharacterized protein C8orf4 APPROVED protein-coding ENSG00000176907 1357 09650 607702 REVIEWED 1353747 C8orf6 chromosome 8 open reading frame 6 8 11032417 11032701 - 203081 NM_145656 15542 2304146 C8orf48 chromosome 8 open reading frame 48 8 8 8 p22 12389653 12391098 + 13468723 13470172 + 13424352 13425797 + 6480464 16189514;12477932;8889548;19060904 157773 Q96LL4 ABBA01021622;AC022832;AF394908;AK058131;AK058156;AMYH01018529;BC031245;CB306127;CH471080;NM_001007090 AAH31245;AAQ02889;BAB71677;BAB71692;EAW63850;NP_001007091;Q96LL4 Hs.104941 1688975 RH92548 FLJ25402 OTTHUMP00000229934;hypothetical protein LOC157773;uncharacterized protein C8orf48 protein-coding ENSG00000164743 26345 16922 VALIDATED 1606129 C8orf47 chromosome 8 open reading frame 47 8 8 8 q22.2 95262686 95291703 + 99145926 99175014 + 99076750 99105838 + 6480464 14702039;12477932;20208534;21906983 203111 Q6P6B1 ABBA01037532;AI697720;AK096872;AMYH01018915;AMYH01018916;AP003352;AP003439;BC062359;CH471060;NM_001170806;NM_173549 AAH62359;BAC04880;EAW91772;EAW91773;NP_001164277;NP_775820;Q6P6B1 Hs.171455 1786704 SHGC-154724 FLJ39553 OTTHUMP00000227641;hypothetical protein LOC203111;uncharacterized protein C8orf47 protein-coding ENSG00000177459 26823 08802 VALIDATED 2300141 C8orf63 chromosome 8 open reading frame 63 q24.3 619339 BQ919341 chromosome 8 open reading frame 63 protein-coding 21804 1602381 C8orf66 chromosome 8 open reading frame 66 q24.3 619427 AL834492 Hs.638555 DKFZp434O0331 protein-coding 32282 1603174 C8orf56 chromosome 8 open reading frame 56 8 8 q22.3 100332034 100340409 - 104145191 104153570 - 12477932;21832049 157556 P0C853 ABBA01037630;AMYH01018944;AP003550;BC029562;BC071743;NR_027071 P0C853 Hs.459124 MGC39526 miscrna ENSG00000236939 28595 VALIDATED 2300140 C8orf69 uncharacterized LOC619344 8 q22.1 96219235 96228602 - 619344 AA469917;ABBA01037479;ABBA01037480;AMYH01018900;AMYH01018901;AP003466;AW103292;NR_046232 Hs.741630 chromosome 8 open reading frame 69 APPROVED miscrna ENSG00000253351 VALIDATED 2300142 C8orf67 chromosome 8 open reading frame 67 p23.3 10737800 619338 BF742662 Hs.678836 chromosome 8 open reading frame 67 protein-coding 21519 1601708 C8orf46 chromosome 8 open reading frame 46 8 8 8 q13.1 63398468 63423736 + 67568321 67593294 + 67405491 67430759 + 6480464 15489334;14702039;12477932 254778 E5RH60;E5RJS6;E5RKA6;Q8TAG6;R4GNJ7 ABBA01041871;AC009879;AK055047;AK096336;AK294261;AK308800;AK315486;AMYH01018773;BC028400;CH471068;DC344091;H17010;NM_152765 AAH28400;ACT64493;ACT64494;BAG37870;BAG57555;EAW86908;EAW86909;EAW86910;NP_689978;Q8TAG6 Hs.268869 1661554;1673195;1676652;1777739;2120644;2147864 1978;A002V38;D8S1398E;D8S1578;HSC15E112;RH91788 MGC33510 OTTHUMP00000211258;OTTHUMP00000226956;OTTHUMP00000226957;OTTHUMP00000228340;hypothetical protein LOC254778;uncharacterized protein C8orf46 protein-coding ENSG00000169085 28498 14565 VALIDATED 1602379 C8orf61 chromosome 8 open reading frame 61 8 p23.3 1720281 1722142 + 14702039 619435 Q8N8I7 AC100810;AK096736;NM_001034061 BAC04854;NP_001029233;Q8N8I7 Hs.591392 FLJ39417 protein-coding 32277 1604869 C8orf49 chromosome 8 open reading frame 49 8 8 p23.1 11656174 11657024 + 11618765 11620309 + 14702039;12477932;22500510 606553 E9PQH1;Q96NF6 ABBA01026877;AC069185;AK055534;AMYH01018482;BC132945;BC136882;CH471157;NR_103552;XR_110589;XR_113107;XR_171708 AAI32946;AAI36883;EAW65622;Q96NF6 Hs.545529 1681275;1754435;2169795;2172970;5022322 D11S2560;RH11694;RH91374;SHGC-132501;SHGC-33472 FLJ30972 miscrna ENSG00000255394 32200 PREDICTED 1345698 C8orf8 chromosome 8 open reading frame 8 p23-p22 11896452 83647 Q96KT2 AJ301561 CAC82737;Q96KT2 Hs.404138 protein-coding 15544 1604140 C8orf59 chromosome 8 open reading frame 59 8 8 8 q21.2 82131333 82137694 - 86313540 86319895 - 86126288 86132643 - 6480464 16344560;16341674;15146197;12477932;11597177;21139048;21963094;23000965 401466 E5RGR5;E5RIV3;Q8N0T1 ABBA01004010;AC011773;AMYH01018835;BC032347;BC055092;BC062221;BC146983;BC146988;BC157825;BC171873;BG926519;BM785759;CH471068;CN280666;DB094478;NM_001099670;NM_001099671;NM_001099672;NM_001099673 AAH32347;AAI46984;AAI46989;AAI57826;EAW87124;EAW87125;EAW87126;EAW87127;NP_001093140;NP_001093141;NP_001093142;NP_001093143;Q8N0T1 Hs.443072 1776082;1797490;2116893;2125751;2180191 E2F5_2517;RH16329;RH46301;SGC35072;SHGC-35383 OTTHUMP00000227510;OTTHUMP00000227512;OTTHUMP00000227967;OTTHUMP00000227969;OTTHUMP00000227970;hypothetical protein LOC401466;uncharacterized protein C8orf59 protein-coding ENSG00000176731 32235 VALIDATED 1604880 C8orf58 chromosome 8 open reading frame 58 8 8 8 p21 21418974 21423515 + 22513067 22517608 + 22457114 22461663 + 6480464 14702039;12477932;17207965;16751776;18029348 541565 E5RJ64;H0YAZ5;Q8NAV2 ABBA01005525;AC037459;AI380311;AK092034;AK295405;AMYH01018567;BC012750;BI910955;DC328974;DQ593874;NM_001013842;NM_001198827;NM_173686 AAH12750;ADQ32183;BAC03795;BAG58356;NP_001013864;NP_001185756;NP_775957;Q8NAV2 Hs.743508 1688110;1698432;1699706 RH102761;RH103458;RH79699 FLJ34715 OTTHUMP00000205210;OTTHUMP00000205211;hypothetical protein LOC541565;uncharacterized protein C8orf58 protein-coding ENSG00000241852 32233 18675 VALIDATED 1343550 C9orf101 chromosome 9 open reading frame 101 445578 31361 5688531 C8orf87 chromosome 8 open reading frame 87 8 q22.1 94146324 94179079 - 20889312;12477932 389676 E5RJ46;H0YBK8 ABBA01037432;ABBA01037433;AC016885;AC022825;AMYH01018881;BC089453;NM_001242668 E5RJ46;NP_001229597 Hs.386711 1340639;1711930 D8S1818;G49576 uncharacterized protein C8orf87;uncharacterized protein LOC389676 protein-coding ENSG00000254318 42974 VALIDATED 1606363 C8orf82 chromosome 8 open reading frame 82 8 8 8 q24 141927283 141930130 - 145722411 145725266 - 145751603 145754458 - 12477932 414919 H0YEK9;H0YF29;J3KNI2;Q6P1X6 ABBA01005200;AC084125;AMYH01019157;AMYH01019158;BC064373;BC064829;BC073936;CH471162;NM_001001795 AAH64373;AAH64829;AAH73936;EAW82063;EAW82064;NP_001001795;Q6P1X6 Hs.105685 1648009 RH11522 MGC70857 OTTHUMP00000228796;OTTHUMP00000228798;UPF0598 protein C8orf82;hypothetical protein LOC414919 protein-coding 33826 17567 PREDICTED 1602035 C8orf86 chromosome 8 open reading frame 86 8 8 8 p11.22 37321247 37339347 - 38487509 38505337 - 38368352 38386180 - 12477932 389649 Q6ZUL3 ABBA01023530;ABBA01023531;AC069120;AC087623;AK125570;AMYH01018653;BC137511;BC137512;BC139744;NM_207412 AAI37512;AAI37513;AAI39745;BAC86207;NP_997295;Q6ZUL3 Hs.546586 FLJ43582 OTTHUMP00000225520;hypothetical protein LOC389649;uncharacterized protein C8orf86 protein-coding ENSG00000196166 33774 13474 PREDICTED 1606427 C8orf74 chromosome 8 open reading frame 74 8 8 8 p23.1 9658009 9685862 + 10567557 10595513 + 10530147 10558103 + 6480464 15489334;12477932 203076 E5RJ53;H0YBH0;Q6P047 ABBA01026889;AC105001;AK131443;AMYH01018477;BC038534;BC065837;BC132852;BC132854;CH471157;HC006850;NM_001040032 AAH65837;AAI32853;AAI32855;ADR82897;CBH19230;EAW65593;NP_001035121;Q6P047 Hs.371776 1338216;1697090;7184055 D8S520;RH102027 OTTHUMP00000224980;hypothetical protein LOC203076;uncharacterized protein C8orf74 protein-coding ENSG00000171060 32296 VALIDATED 1348246 C9orf118 chromosome 9 open reading frame 118 q22.32 15164053 414312 A6NHY6;B1AM58 AL161728 A6NHY6;CAH72691 bA342C23.1 Putative uncharacterized protein C9orf118;chromosome 9 open reading frame 118 protein-coding 25943 1349151 C9orf120 chromosome 9 open reading frame 120 414322 31413 1602854 C8orf76 chromosome 8 open reading frame 76 8 8 8 q24.13 120421270 120442656 - 124301412 124322798 - 124232196 124253638 - 6480464 15489334;14702039;12477932;8125298;20379614;19416867;21906983 84933 Q96K31 ABBA01037869;ABBA01037870;AC068228;AK027731;AK222660;AMYH01019003;BC067796;CH471060;DR156993;GD144749;NM_032847 AAH67796;ACT64409;ACT64410;BAB55327;BAD96380;EAW92026;NP_116236;Q96K31 Hs.707401 1679143;1689145;1847469;2123583;2167102 RH48703;RH80528;RH93745;STS-AA032013;STS-N32331 FLJ14825;MGC9784 OTTHUMP00000228384;hypothetical protein LOC84933;uncharacterized protein C8orf76 protein-coding ENSG00000189376 25924 08605 VALIDATED 1343592 C9orf114 chromosome 9 open reading frame 114 9 9 9 q34.11 102235130 102242872 - 130624166 130631906 - 131581930 131592100 - 737633;6480464 12477932 15489334;15164053;11790298;11042152;17207965;22990118;20813266;21900206;21906983 51490 Q5T280;R4GNG4 ABBA01043904;AF161459;AK303563;AL110193;AL441992;AMYH01021752;BC010579;BC021273;BC033677;BC039590;BC046133;BC056890;BC063644;BM997763;CH471090;NM_016390 AAF29074;AAH10579;AAH21273;AAH33677;AAH39590;AAH46133;AAH63644;ADQ32533;BAG64586;EAW87838;EAW87839;NP_057474;Q5T280 Hs.744105 2108057;2125011 ENDOG_7788;RH78082 CENP-32;DKFZp566D143;HSPC109;MGC29492;RP11-545E17.7 OTTHUMP00000022300;centromere protein 32;hypothetical protein LOC51490;uncharacterized protein C9orf114 protein-coding ENSG00000198917 26933 12935 VALIDATED 1353369 C9orf116 chromosome 9 open reading frame 116 9 9 9 q34.3 108904156 108908891 - 137526847 137531582 - 138387026 138391761 - 737633;6480464 12477932 15489334;15164053;14702039 138162 H0Y549;Q5BN46 ABBA01030037;AI367252;AI873313;AK024007;AL161452;AMYH01021839;AY927868;BC021261;CH471090;DR003074;NM_001048265;NM_144654 AAH21261;AAX22217;ABM83710;ABM87030;EAW88154;EAW88155;NP_001041730;NP_653255;Q5BN46 Hs.414028 1696930 RH101935 FLJ13945;MGC29761;PIERCE1;RP11-426A6.4;RbEST47 OTTHUMP00000022533;OTTHUMP00000022534;OTTHUMP00000022536;UPF0691 protein C9orf116;hypothetical protein LOC138162;p53-induced expression 1 in Rb−/− cells;p53-induced expression in RB-null cells protein 1;pierce 1 protein-coding ENSG00000160345 28435 12937 614502 VALIDATED 1350389 C9orf129 chromosome 9 open reading frame 129 9 9 9 q22.31 66522701 66550923 - 95120302 95148517 - 96080481 96108696 - 20379614 445577 Q5T035 ABBA01018607;AL583839;AMYH01021513;NM_001098808 NP_001092278;Q5T035 Hs.575636 1768531;2116753;2169832 IB543;RH66306;WI-15809 bA165J3.3 OTTHUMP00000021675;putative uncharacterized protein C9orf129 protein-coding ENSG00000204352 31116 PREDICTED 1319327 C9orf123 chromosome 9 open reading frame 123 9 9 9 p24.1 7726922 7730231 - 7786490 7789799 - 7796490 7799799 - 737633;6480464 12477932 19240061;15489334;15164053;21832049;22219177 90871 Q96GE9 ABBA01065371;AK292632;AL137489;AL354694;AMYH01019215;BC009510;BI550091;CH471071;NM_033428 AAH09510;ADZ15990;BAF85321;CAB70768;EAW58728;NP_219500;Q96GE9 Hs.7517 1678695;1679952;1687153;2143217 RH12800;RH39444;RH65064;WIAF-2166 MGC4730 OTTHUMP00000021055;transmembrane protein C9orf123 protein-coding ENSG00000137038 30536 12939 PROVISIONAL 1343575 C9orf117 chromosome 9 open reading frame 117 9 9 9 q34.11 101120163 101127195 + 129509092 129516124 + 130469271 130476303 + 14702039;12477932;21145461 286207 A2RUS6;Q5JU67 ABBA01043840;AK094948;AK126437;AL162426;AL833241;AMYH01021732;BC125172;BC133027;BC141809;CH471090;NM_001012502 AAI33028;AAI41810;EAW87682;EAW87683;EAW87684;NP_001012520;Q5JU67 Hs.652519 1677476;2179981 RH92521;SGC30286 RP11-56D16.5 OTTHUMP00000022194;hypothetical protein LOC286207;uncharacterized protein C9orf117 protein-coding ENSG00000160401 27843 16673 PREDICTED 1641964 C9orf141 chromosome 9 open reading frame 141 9 q34.3 138983516 138986263 + 203235 Q5SQ13 AL807752;NM_001101674;XM_117514 CAI12755;NP_001095144;Q5SQ13;XP_117514 protein-coding 18147 1349578 C9orf106 chromosome 9 open reading frame 106 9 9 9 q34.11 102734238 102735825 + 131123116 131124703 + 132083295 132084882 + 14702039;12477932;21139048 414318 Q8NAJ2 ABBA01043923;AK092588;AL161785;AMYH01021758;BC132699;BC132701;CH471090;NM_001012715 AAI32700;AAI32702;BAC03921;EAW87887;NP_001012733;Q8NAJ2 Hs.449434 1786974;1823784;1827270;1828498;1829502;1831194;1832440;1833834;1835662;1929304;1929306;1929308;1929310;1929312;1929314;1929316;1929318;1929320;1929322;1929324;1929326;1929328;1929330;1929332;1929334;1929336;1929338;1929340;1929342;1929344;1929346;1929348;1929350;1929352;2208570;2208572;2208574;2208576;2208578;5037552 D8S2279;ECD12984;ECD14750;ECD15376;ECD15882;ECD16733;ECD17359;ECD18063;ECD18988;REN35481;REN35482;REN35483;REN35484;REN35485;REN35486;REN35487;REN35488;REN35489;REN35490;REN35491;REN35492;REN35493;REN35494;REN35495;REN35496;REN35497;REN35498;REN35499;REN35500;REN35501;REN35502;REN35503;REN35504;REN35505;SHGC-145676;stSG628365;stSG628366;stSG628367;stSG628368;stSG628369 bA65J3.5 putative uncharacterized protein C9orf106 protein-coding 31370 10207 VALIDATED 1626519 C9orf147 chromosome 9 open reading frame 147 q32 100113405 H0Y7W3 AK131020 Hs.662552 bA32M23.3 protein-coding 31438 1320687 C9 complement component 9 This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009] 5 5 p14-p12 39320758 39400412 - 39284377 39364655 - 1580863;6480464;6907045;7240710 2426252;19344414;18842294;17644516;17482181;16844690;16618117;16335952;16263699;15489334;14760718;12596049;12477932;12463754;11881818;11359403;11027207;10551839;9703418;9634479;9570574;9144525;8603752;8471847;8345200;7523406;6095282;4063341;4018030;3624872;3219351;2744767;2395434;1672663;1377690;8630395;21057849;20383146;21507937;19162005;19423540;19739077;19864026;20139276;20153530;20237496;20406964;20438785;16712791;19913121;20628086;21380615;21840429;22528500;22190594;18029348;23487461 735 P02748;Q9UGI4 ABBA01024210;AC008846;AC025471;AJ251818;AK308045;AMYH01015043;BC020721;CB135741;CB157001;CH471119;J02833;K02766;NG_009894;NM_001737;X02176;Y08545 AAA51889;AAA51890;AAH20721;ABM82336;CAA26117;CAA69849;CAB66087;EAW55986;EAW55987;EAW55988;NP_001728;P02748 Hs.654443 1653135;1705146;1768376;1776755;2140543;2176333 D5S2371;RH11647;SGC33368;SHGC-80007;STS-K02766;WI-12573 OTTHUMP00000119994;complement component C9 APPROVED protein-coding ENSG00000113600 1358 00408 120940;613825 REVIEWED 1318524 C9orf151 chromosome 9 open reading frame 151 q34.3 401560 AA916420;BI827090 Hs.528581 bA413M3.2 protein-coding 31453 7246739 C9orf135-AS1 C9orf135 antisense RNA 1 (head to head) 12477932 494558 ABBA01033816;AL162412;AMYH01021393;BC039385;BG717523;BI830190;NR_038833 Hs.130722 1729588 D9S110 miscrna 48713 VALIDATED 1605872 C9orf135 chromosome 9 open reading frame 135 9 9 9 q21.12 43026105 43111542 + 71625551 71710968 + 72435731 72521148 + 16335952;15164053;12477932;20379614;20818722 138255 A7E2U4;E9PIA3;H0YD79;H0YDM9;Q5VTT2 AA416734;ABBA01033816;ABBA01033817;ABBA01033818;ABBA01033819;AL162412;AL591215;AL603625;AMYH01021393;AMYH01021394;BC136709;BC144373;BC144374;BC144375;BC150564;CD684431;CH471089;NM_001010940 AAI36710;AAI50565;EAW62492;NP_001010940;Q5VTT2 Hs.444459 1704720;1729588 D9S110;SHGC-79021 OTTHUMP00000021439;OTTHUMP00000232342;OTTHUMP00000232346;hypothetical protein LOC138255;uncharacterized protein C9orf135 protein-coding ENSG00000204711 31422 17298 VALIDATED 1344533 C9orf148 chromosome 9 open reading frame 148 q33.2 12477932 401550 BC039180 Hs.644347 protein-coding 24214 1352712 C9orf155 chromosome 9 open reading frame 155 497260 AL161447;NM_001099268 CAH73151;NP_001092738 FLJ23608;bA379P1.3 protein-coding 29844 1604527 C9orf131 chromosome 9 open reading frame 131 9 9 9 p13.3 34973075 34977961 + 35031102 35035988 + 35041102 35045988 + 6480464 16344560;14702039;12477932 138724 F5H224;F5H4E3;F8W7H5;Q5VYM1 ABBA01064998;AK090398;AK097595;AK302123;AL133575;AL353795;AMYH01019341;BC045643;DB072610;DB091135;DB093341;DB096349;NM_001040410;NM_001040411;NM_001040412;NM_203299 AAH45643;BAC03379;BAG63501;CAB63722;NP_001035500;NP_001035501;NP_001035502;NP_976044;Q5VYM1 Hs.148250;Hs.742567 2128862;5014267;5015861;5022200;5022576;5022651;5037552;7185938 D10S16;D11S2921;D1S1361;D8S2279;G29284;L18426;REN93612 FLJ00273;MGC41945 OTTHUMP00000021323;OTTHUMP00000239652;OTTHUMP00000239653;OTTHUMP00000239674;hypothetical protein LOC138724;uncharacterized protein C9orf131 protein-coding ENSG00000174038 31418 14616 VALIDATED 1603806 C9orf139 chromosome 9 open reading frame 139 9 9 q34.3 139041737 139051055 + 139921916 139931234 + 14702039;12477932 401563 Q6ZV77 ABBA01022736;ABBA01022737;ABBA01022738;AK093587;AK124899;AL807752;AMYH01021885;AMYH01021886;AMYH01021887;BC132809;BC136839;CH471090;NM_207511 AAI32810;AAI36840;ADR83488;BAC04202;BAC85986;EAW88334;NP_997394;Q6ZV77 Hs.522509 1792768;1795874;2163150 FUT7_665;PMC16366P1;STS-X78031 FLJ36268;FLJ42909 OTTHUMP00000022650;hypothetical protein LOC401563;uncharacterized protein C9orf139 protein-coding ENSG00000180539 31426 16942 PREDICTED 1606404 C9orf142 chromosome 9 open reading frame 142 9 9 9 q34.3 110399180 110400738 + 139006691 139008249 + 139886870 139888428 + 6480464 12477932;17207965;21832049;21139048 286257 Q9BUH6 ABBA01022734;AL807752;AMYH01021882;BC002613;BC038191;CH471090;NM_183241 AAH02613;AAH38191;ADQ32091;EAW88324;EAW88325;EAW88326;EAW88327;EAW88328;NP_899064;Q9BUH6 Hs.409582 1669143;5123576 STS-T23618;WI-19910 OTTHUMP00000022672;hypothetical protein LOC286257;uncharacterized protein C9orf142 protein-coding ENSG00000148362 27849 14163 PREDICTED 1602164 C9orf164 chromosome 9 open reading frame 164 9 q22.2 91166336 91169386 - 15164053;14702039 349236 AJ420442;AK090804;AK091601;AK097056;AK128342;AL929575;BC137515;BC137518;NM_182635 AAI37516;AAI37519;BAC04938;CAI95794;NP_872441;Q8N8B0 Hs.714762 FLJ39737 protein-coding 28023 14184 1602292 C9orf163 chromosome 9 open reading frame 163 9 9 9 q34.3 109892404 109894976 + 138497768 138500340 + 139377947 139380519 + 17353931;14702039;12477932 158055 Q8N9P6;Q96NJ1 ABBA01022709;AK055336;AK094098;AL592301;AMYH01021864;BC036221;BC117152;BC117154;CH471090;NM_152571 AAI17153;AAI17155;ADR82842;BAB70904;BAC04285;EAW88240;NP_689784;Q8N9P6 Hs.212613 5493399 UniSTS:485993 FLJ36779;RP11-413M3.11 OTTHUMP00000162518;hypothetical protein LOC158055;uncharacterized protein C9orf163 protein-coding ENSG00000196366 26718 08211 VALIDATED 1342470 C9orf152 chromosome 9 open reading frame 152 9 9 9 q31.3 83463470 83472042 - 112001662 112009735 - 112961841 112970413 - 6480464 15851553;15489334;15164053;12477932 401546 A8K2L3;Q5JTZ5 ABBA01042750;AK290278;AL353598;AMYH01021626;BC110807;BX648492;BX648620;CD722791;CH471105;NM_001012993 AAI10808;ABZ92215;ACE86941;ACE87629;BAF82967;EAW59058;NP_001013011;Q5JTZ5 Hs.125608 1697256 RH102122 MGC131682;bA470J20.2 OTTHUMP00000021886;hypothetical protein LOC401546;uncharacterized protein C9orf152 protein-coding ENSG00000188959 31455 10249 VALIDATED 1604152 C9orf153 chromosome 9 open reading frame 153 9 9 9 q21.33 59412336 59444629 - 88032046 88064339 - 88842226 88874519 - 15489334;15164053;12477932 389766 Q5TBE3 ABBA01016308;AL137849;AMYH01021474;BC108665;BG772848;BI827110;CH471089;HC006858;NM_001010907;NM_001276366;NM_001276367;NM_001276368 AAI08666;CBH19234;EAW62710;EAW62711;NP_001010907;NP_001263295;NP_001263296;NP_001263297;Q5TBE3 Hs.632073 MGC131702;bA507D14.1 OTTHUMP00000021589;hypothetical protein LOC389766;uncharacterized protein C9orf153 protein-coding ENSG00000187753 31456 16677 VALIDATED 1603334 C9orf169 chromosome 9 open reading frame 169 9 9 9 q34.3 110634766 110635885 + 140119644 140120763 + 140119644 140120763 + 6480464 12477932;22939629;21078624 375791 A8MQ03;B8A4K4 ABBA01022750;AMYH01021895;BC018787;BC052297;BE563091;BX255925;BX322591;NM_199001 A8MQ03;AAH52297;NP_945352 Hs.495540;Hs.512469 MGC59937 UPF0574 protein C9orf169;hypothetical protein LOC375791 protein-coding ENSG00000197191 30529 14696 VALIDATED 1313441 C9orf156 chromosome 9 open reading frame 156 9 9 9 q22.33 71181022 71199104 - 99706593 99724673 - 100666772 100684852 - 6480464 18654987;14702039;12477932;11042152;9153233;20583170;19779022;21963094;22493691;22318606 51531 Q5T111;Q5T112;Q5T114;Q9BU70 ABBA01042926;AF151053;AK000213;AK023069;AK302701;AK309270;AL499604;AMYH01021558;AY189280;BC002863;CH471105;NM_016481;X86033 AAF36139;AAH02863;AAO86724;ABM83909;ABM87230;BAA91013;BAH13783;CAA60025;EAW58858;EAW58859;EAW58860;NP_057565;Q9BU70 Hs.9196 2148084 D9S1711 HSPC219;NAP1;RP11-23B15.3 Nef (lentivirus myristoylated factor) associated protein 1;Nef associated protein 1;OTTHUMP00000022729;nef-associated protein 1;thioesterase NAP1 protein-coding ENSG00000136932 30967 12945 VALIDATED 3302853 C9orf172 chromosome 9 open reading frame 172 9 9 9 q34.3 110252657 110255587 + 138858688 138861618 + 139738867 139741797 + 389813 C9J069 ABBA01022724;ABBA01022725;AL355987;AMYH01021875;AMYH01021876;AMYH01021877;AMYH01021878;NM_001080482 C9J069;NP_001073951 Hs.495485 chromosome 9 open reading frame 172;uncharacterized protein C9orf172 protein-coding ENSG00000232434 37284 INFERRED 1347051 C9orf33 chromosome 9 open reading frame 33 q22.1 90477 O75562;Q5JUI2 AF072164;AL160054 AAC24864;CAI41367;O75562;Q5JUI2 Hs.667154 HFSE-1 protein-coding 23374 1353607 C9orf35 chromosome 9 open reading frame 35 p21.2 414160 AL163192 chromosome 9 open reading frame 35 protein-coding 23388 1604151 C9orf171 chromosome 9 open reading frame 171 9 9 9 q34.13 105827436 105990419 + 134275432 134438496 + 135285611 135448675 + 6480464 12477932;19913121;20628086;20379614;23251661 389799 A2A393;Q6ZQR2 ABBA01032484;ABBA01032485;ABBA01032486;ABBA01032487;AK128819;AL353701;AL354735;AMYH01021787;AMYH01021788;AMYH01021789;AMYH01021790;AMYH01021791;AMYH01021792;BC118593;BC124555;CH471090;NM_207417 AAI18594;AAI24556;BAC87621;EAW88003;EAW88004;NP_997300;Q6ZQR2 Hs.201709 1337349;1738303;1740535;5020611 D9S1275;D9S149;D9S1847;UniSTS:224561 FLJ46082;MGC148067;RP11-738I14.8 OTTHUMP00000162463;OTTHUMP00000213246;hypothetical protein LOC389799;uncharacterized protein C9orf171 protein-coding ENSG00000188523 33776 13522 PREDICTED 1349397 C9orf36 chromosome 9 open reading frame 36 9 65243186 65249430 - 26165 Q5TZJ5;Q8IWB4 BC040528;NM_015667 23394 1352754 C9orf38 chromosome 9 open reading frame 38 9 p24.1 6457602 6460369 - 29044 Q9UI66 AF090921;AL353718;XM_927012;XM_939946 AAF24038;CAH74115;Q9UI66;XP_932105;XP_945039 Hs.676462 5022578;5022651;5037552 D11S2921;D1S1423;D8S2279 PRO0365 protein-coding 23398 1603810 C9orf170 chromosome 9 open reading frame 170 9 9 9 q21.33 60335217 60346294 + 88953379 88964461 + 89763559 89774641 + 15489334;14702039;12477932 401535 A2RU37 ABBA01016317;ABBA01016318;AK127445;AL158205;AMYH01021477;BC132741;BC136791;NM_001001709 A2RU37;AAI32742;AAI36792;ADR82813;NP_001001709 Hs.657740 1770107 WI-17567 FLJ45537 OTTHUMP00000215881;hypothetical protein LOC401535;uncharacterized protein C9orf170 protein-coding ENSG00000204446 33817 16988 VALIDATED 1342591 C9orf16 chromosome 9 open reading frame 16 9 9 9 q34.1 101573422 101577094 + 129962360 129966028 + 130922539 130926207 + 6480464 16964243;16189514;15489334;15146197;14702039;12477932;10369878 79095 Q9BUW7;Q9Y3F6 ABBA01043870;AK022885;AK315753;AL590708;AMYH01021743;BC001857;BC008887;CH471090;CN360246;DB493059;NM_024112;Y17449;Y17450 AAH01857;AAH08887;BAG38107;CAB44344;CAB44366;EAW87751;NP_077017;Q9BUW7 Hs.522412 1664190;1730199;5022200 D9S1673E;L18426;RH48361 EST00098;FLJ12823;MGC4639 OTTHUMP00000022233;UPF0184 protein C9orf16;hypothetical protein LOC79095 protein-coding ENSG00000171159 17823 12946 VALIDATED 1604889 C9orf173 chromosome 9 open reading frame 173 9 9 9 q34.3 110661314 110663520 + 139265551 139267755 + 140145713 140147935 + 14702039;12477932 441476 B7ZM74;Q8N7X2 ABBA01022752;AK097565;AMYH01021896;BC033939;BC050094;BC132726;BC144308;BC144310;BC144311;BC144314;BX255925;CH471090;DB453255;NM_001004353;NM_001256699;NM_001256700;NM_001256701;NR_046339;NR_046340 AAH33939;AAI32727;AAI44309;AAI44312;AAI44315;ADR82979;BAC05104;EAW88374;EAW88375;EAW88376;NP_001004353;NP_001243628;NP_001243629;NP_001243630;Q8N7X2 Hs.372640 1681829;1687077 RH69719;RH94267 FLJ40246 hypothetical protein LOC441476;uncharacterized protein C9orf173 APPROVED protein-coding ENSG00000197768 37285 17408 VALIDATED 1320010 C9orf3 chromosome 9 open reading frame 3 This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] 9 9 9 q22.32 67929905 68290531 + 96528815 96889262 + 97488951 97849500 + 737633;6480464 12477932 15687497;15489334;15164053;14702039;22885925;20379614;15342556;16344560;20932654;22544366;22632968;23251661 84909 B4DKT1;B4DQU3;B4DU39;H0Y7A8;H0Y7M4;H0YCM2;Q8N6M6 ABBA01043625;ABBA01043626;ABBA01043627;ABBA01043628;ABBA01043629;ABBA01043630;ABBA01043631;ABBA01043632;AF043896;AF043897;AI982632;AJ560639;AK027581;AK057450;AK098242;AK296699;AK296782;AK298959;AK300486;AL157936;AL353768;AL354893;AL807757;AMYH01021531;AMYH01021532;BC020194;BC029616;BP274281;BQ448239;BX099259;BX648970;CH471174;DA222106;DA521148;NG_027833;NM_001193329;NM_001193331;NM_032823 AAH20194;AAH29616;BAB55210;BAB71491;BAG59293;BAG59360;BAG61055;BAG62201;CAD90259;EAW92618;EAW92619;EAW92620;EAW92621;EAW92622;EAW92623;NP_001180258;NP_001180260;NP_116212;Q8N6M6 Hs.434253 1643729;1652635;1664228;1666640;1666642;1667359;1668770;1676738;1680343;1680541;1707870;1708772;1715913;1719135;1755639;1773170;1774871;1779130;1780234;1849228;1850109;1850111;2128733;2129198;2135688;2140064;2154784;2165411;2165413;2167363 A006I15;D9S792;G09308;G20840;G29150;RH122691;RH123285;RH16396;RH18210;RH35946;RH41810;RH44616;RH45578;RH47885;RH47933;RH80162;RH80732;SGC35135;SHGC-142492;SHGC-154697;SHGC-32587;SHGC-33390;SHGC-33990;SHGC-35212;SHGC-81622;SHGC-82173;STS-N52510;STS-T91788;U57798;U57803 AOPEP;AP-O;APO;C90RF3;FLJ14675;FLJ40923;FLJ55832;ONPEP OTTHUMP00000021698;OTTHUMP00000021700;OTTHUMP00000021701;OTTHUMP00000021702;aminopeptidase O APPROVED protein-coding ENSG00000148120 1361 07476 REVIEWED 1343340 C9orf37 chromosome 9 open reading frame 37 While this gene appears to be transcribed and translated to make a protein, no function has been assigned to the protein. [provided by RefSeq, Apr 2009] 9 9 9 q34.3 111033445 111036970 - 139629610 139633070 - 140509784 140513308 - 15164053;12477932;10931946 85026 Q9H2J1 ABBA01022779;AF267857;AL365502;AMYH01021914;AW015916;BC011781;BC066646;BC117267;CH471090;DB727790;NG_011776;NM_032937 AAG44726;AAH66646;AAI17268;ADR82841;EAW88407;EAW88408;NP_116326;Q9H2J1 Hs.522520 1670730;1779167;2128682 STS-H18962;STS-N91817;STS-R41874 AD038;OTTHUMP00000022697;chromosome 9 open reading frame 37;uncharacterized protein C9orf37 APPROVED protein-coding ENSG00000203993 23395 12955 REVIEWED 1323541 C9orf41 chromosome 9 open reading frame 41 9 9 9 q21.13 48175365 48220811 - 76787693 76833130 - 77597873 77643310 - 737633;6480464 12477932 15489334;15164053;14702039;17207965;21832049;21890473 138199 B4DSD4;Q5T8U9;Q5T8V1;Q8N4J0 ABBA01033890;ABBA01033891;AK098661;AK299691;AL158825;AMYH01021416;BC034033;BX538061;BX647386;CH471089;NM_152420 AAH34033;ACE87004;ACE87692;ADQ32135;BAC05369;BAG61596;CAD97992;EAW62565;EAW62566;EAW62567;NP_689633;Q8N4J0 Hs.567688 2013194;2013200;2013204;2098622 REN77532;REN77535;REN77537;stSG602705 FLJ25795 OTTHUMP00000021491;UPF0586 protein C9orf41;hypothetical protein LOC138199 protein-coding 23435 12958 PREDICTED 2290029 C9orf51 chromosome 9 open reading frame 51 9 p13.1 38517094 38517909 + 647044 B1ANY3 AL390726;XM_001713954;XM_930041;XM_940136 Q5VWG5;XP_001714006;XP_935134;XP_945229 bA392E22.4 protein-coding 23678 1317081 C9orf48 chromosome 9 open reading frame 48 9 p13.3 34242378 34319198 - 737633;6480464 12477932 347240 Q5T7B8 AK125180;AK125872;AL353662;BC048311;BC110502;BC110503;CH471071;NM_194313 AAH48311;AAI10503;AAI10504;BAC86074;BAC86329;CAI15919;EAW58466;NP_919289;Q5T7B8 Hs.661678 FLJ43884;MGC125677;MGC125678 protein-coding 23670 12963 613747 1350435 C9orf56 chromosome 9 open reading frame 56 414154 20950 1322222 C9orf24 chromosome 9 open reading frame 24 This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 9 9 9 p13.3 34310522 34329350 - 34369017 34387849 - 34379017 34397849 - 6480464 19213785;15862967;15242845;14702039;12477932;12029067;8125298;17207965;8401585;8889548 84688 H0Y454;Q5T5A1;Q8NCR6 AA338648;ABBA01065012;AF367474;AK058087;AK094751;AK225981;AL356494;AMYH01019336;AW961020;BC022084;BC029484;BI561111;CB854584;CH471071;NM_001252195;NM_032596;NM_147168;NM_147169 AAH22084;AAH29484;AAK53410;ADQ31579;BAB71657;BAC04412;EAW58456;EAW58457;EAW58458;EAW58459;NP_001239124;NP_115985;NP_671697;NP_671698;Q8NCR6 Hs.50334 1686512;2141726;2151144 D9S1929;RH12896;RH66380 CBE1;MGC32921;MGC33614;NYD-SP22;SMRP1;bA573M23.4 OTTHUMP00000000492;OTTHUMP00000000493;OTTHUMP00000000494;OTTHUMP00000000495;OTTHUMP00000000498;ciliated bronchial epithelial protein 1;ciliated bronchial epithelium 1;spermatid-specific manchette-related protein 1;testes development-related NYD-SP22;testis development protein NYD-SP22;uncharacterized protein C9orf24 APPROVED protein-coding ENSG00000164972 19919 12949 REVIEWED 1343208 C9orf62 chromosome 9 open reading frame 62 9 9 q34.3 137375066 137376074 + 138235095 138238408 + 737633;6480464 12477932 157927 Q8N4C0 ABBA01030031;AL353615;AMYH01021836;BC034752;NM_173520 AAH34752;NP_775791;Q8N4C0 Hs.559511 5094220 G54620 MGC35463;RP11-555H7.1 putative uncharacterized protein C9orf62 protein-coding ENSG00000178243 28581 VALIDATED 1345519 C9orf43 chromosome 9 open reading frame 43 9 9 9 q32 86820622 86839482 + 115212843 115231703 + 116173022 116191882 + 737633 12477932 15489334;15164053;20583170;16344560;21832049 257169 Q8TAL5 ABBA01042684;AK301872;AK313867;AL137066;AMYH01021669;BC026884;BC033037;CH471090;DB048582;DB057586;NM_001278629;NM_001278630;NM_152786 AAH26884;AAH33037;BAG36595;BAG63309;EAW87383;EAW87384;EAW87385;EAW87386;NP_001265558;NP_001265559;NP_689999;Q8TAL5 Hs.632691 1788640 RH18148 MGC17358 OTTHUMP00000021960;OTTHUMP00000021961;hypothetical protein LOC257169;uncharacterized protein C9orf43 protein-coding ENSG00000157653 23570 12959 VALIDATED 1347500 C9orf53 chromosome 9 open reading frame 53 9 9 9 p21.3 21905490 21906105 + 21957199 21957752 + 21967138 21967753 + 6480464 19664850;17081983;15164053;21048031;21385355;21406102 51198 Q9UH64 ABBA01065171;ABBA01065172;AF211119;AL449423;AMYH01019276;BX091351;NG_007485;NR_024274 AAF22974;Q9UH64 Hs.721053 2120982;2121132;2167157 D9S2060;RH67869;STS-S69824 bA149I2.3 miscrna ENSG00000224854 23831 VALIDATED 1342941 C9orf57 chromosome 9 open reading frame 57 9 9 9 q21.13 45239014 45248238 - 73856113 73877565 - 74666297 74675521 - 737633 12477932 15489334;15164053 138240 A1L456;Q5W0N0 ABBA01033851;AL138751;AL583829;AMYH01021404;BC036255;BC044620;BC053956;BC130404;BC144273;CH471089;NM_001128618 AAI30405;AAI44274;EAW62527;NP_001122090;Q5W0N0 Hs.371235 1683918 RH92915 RP11-346E17.3 OTTHUMP00000021462;hypothetical protein LOC138240;uncharacterized protein C9orf57 protein-coding ENSG00000204669 27037 VALIDATED 1606405 C9orf47 chromosome 9 open reading frame 47 9 9 9 q22.1 62188427 62193706 + 90795663 90800875 + 91605778 91611057 + 6480464 15164053;14702039;12477932;22331829 286223 Q5SQD6;Q6ZRZ4 ABBA01004617;AK094842;AK127854;AK130650;AL831887;AMYH01021494;AY333281;BC136895;BC144432;CK905850;NM_001001938;NM_001142413 AAI36896;AAI44433;AAP93864;BAC04433;BAC87162;NP_001001938;NP_001135885;Q6ZRZ4 Hs.585118 C9orf108;FLJ37523;bA791O21.3 OTTHUMP00000021610;OTTHUMP00000215692;hypothetical protein LOC286223;uncharacterized protein C9orf47 protein-coding ENSG00000186354 23669 12962 VALIDATED 1350600 C9orf40 chromosome 9 open reading frame 40 9 9 9 q21.13 48135332 48141635 - 76751319 76757622 - 77561499 77567802 - 6480464 17081983;15489334;15164053;14702039;12477932;8125298;21139048;21890473 55071 Q8IXQ3 ABBA01033888;AK000972;AK225349;AL158825;AMYH01021416;BC039588;BM126413;CH471089;NM_017998 AAH39588;BAA91449;EAW62564;NP_060468;Q8IXQ3 Hs.532296 1671572;2157825 SHGC-64302;WI-12436 FLJ10110;FLJ25795 OTTHUMP00000021490;hypothetical protein LOC55071;uncharacterized protein C9orf40 protein-coding ENSG00000135045 23433 12957 VALIDATED 1345654 C9orf73 chromosome 9 open reading frame 73 q22.31 14702039 286371 AK095132 Hs.711420 1339396;1713753;1773150 D9S1098;D9S1842;RH120763 protein-coding 27862 1606874 C9orf50 chromosome 9 open reading frame 50 9 9 9 q34.11 103025311 103033860 - 131414325 131422876 - 132374504 132383055 - 6480464 16344560;14702039;12477932;21382349;22041458 375759 Q5SZB4 ABBA01043938;ABBA01043939;AK093122;AL391056;AL590369;AMYH01021762;AW468767;AW958564;AW958565;BC112353;CH471090;DB024443;JF442034;NM_199350 AAI12354;AEO12129;EAW87891;EAW87892;NP_955382;Q5SZB4 Hs.124223 FLJ35803 OTTHUMP00000022341;hypothetical protein LOC375759;uncharacterized protein C9orf50 protein-coding ENSG00000179058 23677 14197 VALIDATED 1322751 C9orf64 chromosome 9 open reading frame 64 9 9 9 q21.32 57124248 57142674 - 85743046 85761483 - 86553226 86571663 - 737633;6480464 12477932 15489334;15164053;14702039;21139048;19322201;20881960;22505724 84267 Q5T6V5;Q5T6V6;Q5T6V7 ABBA01034011;ABBA01034012;AK090882;AL354733;AMYH01021461;AMYH01021462;BC004407;BC137461;BC137462;BX116423;CH471089;DB464056;NM_032307 AAI37462;AAI37463;BAC03538;EAW62672;EAW62673;EAW62674;NP_115683;Q5T6V5 Hs.208914 1786918;5037552 D8S2279;SHGC-112554 MGC10999;RP11-575L7.5 OTTHUMP00000021562;OTTHUMP00000021563;UPF0553 protein C9orf64;hypothetical protein LOC84267 protein-coding ENSG00000165118 28144 12969 611342 VALIDATED 1347775 C9orf66 chromosome 9 open reading frame 66 9 9 9 p24.3 127940 130725 - 203462 205741 - 213108 215893 - 6480464 15164053;14702039;12477932 157983 Q0VG94;Q5T8R8 ABBA01065460;AK055720;AL158832;AMYH01019173;BC111423;NG_017007;NM_152569 AAI11424;BAB70995;NP_689782;Q5T8R8 Hs.190877 5021872;5493463 UniSTS:486505;sY3084 FLJ31158;RP11-59O6.1 OTTHUMP00000022749;hypothetical protein LOC157983;uncharacterized protein C9orf66 protein-coding ENSG00000183784 26436 12971 VALIDATED 1349018 C9orf69 chromosome 9 open reading frame 69 9 9 9 q34.3 109524655 109528958 - 138146248 138150552 - 139006427 139010731 - 6480464 16344560;14702039;12477932;21667337 90120 H0YKC6;H0YL14;H3BQM9;H3BVA3 ABBA01030058;ABBA01030059;AK023162;AK091349;AL138781;AMYH01021858;BC009229;BC013282;BC014304;BC021231;BC064970;BC084549;BC092490;BC111053;DA685158;NM_001256526;NM_152833 H0YL14;NP_001243455;NP_690046 Hs.287411 2171721 STS-T50077 bA83N9.1 herpes virus UL25-binding protein;hypothetical protein LOC90120;protein C9orf69;uncharacterized protein LOC90120 protein-coding ENSG00000238227 31009 VALIDATED 1314456 C9orf89 chromosome 9 open reading frame 89 9 9 9 q22.31 66300177 66317285 + 94898271 94915386 + 95858450 95875565 + 737633;6480464 12477932 15637807;15489334;15164053;14702039 84270 Q96LW7 ABBA01018603;AK057716;AK091611;AK097977;AK128259;AL451065;AMYH01021512;AW207349;BC004500;BC038856;BC042201;BC091476;CH471089;NM_032310 AAH04500;AAH38856;BAB71550;EAW62850;EAW62851;EAW62852;EAW62853;EAW62854;EAW62855;NP_115686;Q96LW7 Hs.434213 1677564;1728761;1729575;1729898;5022200;5022578;5022651;7184633 D11S2921;D1S1423;D9S119;D9S12;G54480;L18426;RH65765 BinCARD;MGC110898;MGC11115;bA370F5.1 Bcl10-interacting protein with CARD;OTTHUMP00000021671;bcl10-interacting CARD protein protein-coding ENSG00000165233 28148 12985 VALIDATED 1349109 C9orf92 chromosome 9 open reading frame 92 9 9 9 p22.3 16131238 16203619 - 16193933 16266305 - 16193933 16266305 - 15164053;11329013 100129385 A6NGG3;H7C3I8 AI167486;AL513424;AW779702;BG207459;NM_001271829;NR_073471;XM_001723009;XM_001723011;XM_001725126;XM_001725127 A6NGG3;NP_001258758;XP_001723061;XP_001723063;XP_001725178;XP_001725179 Hs.586441 1340310;1691126;1729662;1778540;1778647;7186427 AFM051xd6;D8S209;D9S156;D9S1917;D9S908 Em:AL513424.1 chromosome 9 open reading frame 92;putative uncharacterized protein C9orf92 protein-coding 19054 VALIDATED 1312125 C9orf91 chromosome 9 open reading frame 91 9 9 9 q32 88021359 88056348 + 116413527 116448524 + 117373706 117408703 + 737633;6480464 12477932 16381901;16344560;15489336;14702039;11230166;11076863;9110174;8619474;19322201 203197 Q5VZI3 ABBA01042663;ABBA01042664;ABBA01042665;AF038174;AK095364;AK098022;AK289383;AL160275;AL557166;AL834412;AMYH01021674;AMYH01021675;BC010029;BC019913;BC062550;BC107133;BC107134;BI553818;BQ049157;BX649023;CH471090;DB199443;NM_153045 AAH19913;AAH62550;AAI07134;AAI07135;BAC04537;BAF82072;CAD39074;CAL37803;EAW87426;EAW87427;EAW87428;NP_694590;Q5VZI3 Hs.522357 1662970;1666304;1771976;1787058;2152588;5020948;5022200 CHLC.GGAT3C11;G35303;G35510;L18426;NIB917;RH11942;SHGC-154091 DKFZp547P234;FLJ38045;MGC129868;MGC129869;RP11-402G3.2 OTTHUMP00000021980;OTTHUMP00000021981;transmembrane protein C9orf91 protein-coding ENSG00000157693 24513 12988 VALIDATED 1602828 C9orf72 chromosome 9 open reading frame 72 Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 9 9 9 p21.2 27474665 27501967 - 27536544 27563842 - 27546543 27573864 - 6480464;7240710 22305801;22721568;22727276;22766072;22564974;22499346;22343411;22426854;15489334;15164053;14702039;12477932;22216764;19734901;20423481;20801718;22406228;23423380;22964910;22964911;23084342;21944778;22399792;22399793;11015796;12672552;16495328;20562461;20801717;21944779;22228244;22678362;22692064;23012445;23160421;23338682;22708871;22742426;22985429;23035801;23036583;23063644;23088937;19322201;22487746;21890473;22083254;22300873;22300876;22344582;22366791;22366792;22366793;22366794;22366795;22550220;20301623;22410647;22418734;22445326;22459598;22483864;22502998;21832049;22732773;23100398;22815561;23393093;22936364;23111906;23413259;22571983;23264878;22959728;22840558;23117491;22739338;22673113;22807188;22843265;22181065;22766732;22875086;22875087;23284068 203228 Q96LT7;Q9NUW0 ABBA01065127;AK001971;AK057806;AK291425;AL451123;AL832229;AL832467;AMYH01019297;BC020851;BC039112;BC068445;BG722125;CH471071;JN681271;NG_031977;NM_001256054;NM_018325;NM_145005 AAH68445;ADR82709;AET41697;BAA92009;BAB71583;BAF84114;EAW58558;EAW58559;EAW58560;EAW58561;NP_001242983;NP_060795;NP_659442;Q96LT7 Hs.493639 1298120;1298167;1337019;1681209;2141327;2175677 D9S1122;D9S301;D9S922;RH66179;SGC32711;SHGC-36542 ALSFTD;FTDALS;MGC23980;RP11-27J8.2 OTTHUMP00000021170;OTTHUMP00000021171;OTTHUMP00000021172;hypothetical protein LOC203228;protein C9orf72;uncharacterized protein C9orf72 APPROVED protein-coding ENSG00000147894 28337 12975 105550;614260 VALIDATED 1351188 C9orf84 chromosome 9 open reading frame 84 9 9 9 q31.3 84947957 85044839 - 113488722 113585600 - 114448901 114545779 - 6480464 16344560;15164053;14702039;12477932;18812090;21771883 158401 A6PVK7;Q5VXU9;Q6ZU10 ABBA01042725;ABBA01042726;AK057341;AK126055;AL135787;AL354877;AL356491;AL704322;AL833535;AMYH01021643;BC041858;BC112357;BC144680;CH471105;DB066382;NM_001080551;NM_173521 AAI12358;BAB71436;BAC86417;EAW59088;EAW59089;EAW59090;NP_001074020;NP_775792;Q5VXU9 Hs.428209 1663193;2184447 G31134;SGC38204 FLJ32779;FLJ44067;MGC43661 OTTHUMP00000021923;OTTHUMP00000161933;OTTHUMP00000196461;hypothetical protein LOC158401;uncharacterized protein C9orf84 protein-coding ENSG00000165181 26535 12982 VALIDATED 1605873 C9orf85 chromosome 9 open reading frame 85 9 9 9 q21.13 45099152 45161076 + 73716243 73778193 + 74526423 74588373 + 6480464 15489334;15164053;14702039;12477932;17207965;16712791 138241 E9PN32;F6X0R3;H3BLX8;Q96MD7 ABBA01033843;ABBA01033844;ABBA01033845;ABBA01033846;AK307186;AK311206;AL138751;AMYH01021403;AMYH01021404;BC010179;BC028019;BC052375;BQ020559;BQ431408;BX104173;CB113688;CH471089;NM_182505 AAH52375;ADQ32587;EAW62523;EAW62524;EAW62525;EAW62526;NP_872311;Q96MD7 Hs.534190 1773327;2140991;2175063;5015861;5022425;5022578;5022651;5093240;7185938 A009K05;D10S16;D11S2921;D1S1423;D22S296;G32602;RH69359;WI-13979 MGC61599;RP11-346E17.2 OTTHUMP00000021459;OTTHUMP00000021460;OTTHUMP00000021461;hypothetical protein LOC138241;uncharacterized protein C9orf85 protein-coding ENSG00000155621 28784 12983 VALIDATED 1316505 C9orf96 chromosome 9 open reading frame 96 9 9 9 q34.2 106793768 106821789 + 135233105 135261041 + 136243284 136271220 + 737633;6480464 12477932 15489334;15164053;14702039;12471243;23267103 169436 B4DH61;Q8NE28 ABBA01032458;ABBA01032459;ABBA01032460;ABBA01032461;AK131533;AK131545;AK294947;AL158826;AL593848;AMYH01021800;AMYH01021801;AMYH01021802;BC036504;CH471090;NM_153710;NR_103997 AAH36504;BAD18679;BAG58022;CAI12843;EAW88075;EAW88076;EAW88077;EAW88078;EAW88079;EAW88080;EAW88081;NP_714921;Q8NE28 Hs.720195 1339754;1653548;1683996;1689951;2127411;5021226;7186178 A008L29;Cda18h02;D14S594;D9S164;RH75089;WI-21963 MGC43306;RP11-244N20.8;SgK071;Sk521 OTTHUMP00000022465;probable inactive protein kinase-like protein SgK071;protein kinase-like protein SgK071;sugen kinase 071 protein-coding ENSG00000198870 28669 12990 VALIDATED 1313051 C9orf78 chromosome 9 open reading frame 78 9 9 9 q34.11 103240592 103248602 - 131629385 131637393 - 132589564 132597572 - 6480464 18654987;17081983;15592455;15489334;15302935;15164053;14702039;12477932;12097419;11042152;8889548;16169070;16712791;21832049;18029348;20360068;21900206;21044950;21139048;22863883 51759 Q9NZ63 ABBA01043951;AF151054;AF218421;AK057004;AK097577;AL137549;AL158207;AMYH01021765;AY632862;BC007664;BC017570;BC037173;BU674575;CB128496;CH471090;NM_016520 AAF36140;AAF37561;AAH07664;AAH17570;AAT46619;BAG51840;CAB70805;EAW87909;EAW87910;NP_057604;Q9NZ63 Hs.278429 1762657;2114910;2152953;5015619;5015961;5022322;5024756;5037552 D11S2560;D11S3114;D15S1477;D8S2279;RH71165;RH80030;SHGC-146454;STS-W80591 HCA59;HSPC220;bA409K20.3 OTTHUMP00000022352;chromosome 9 open reading frame 78;hepatocellular carcinoma-associated antigen 59;uncharacterized protein C9orf78 protein-coding ENSG00000136819 24932 10803 VALIDATED 1353846 C9orf9 chromosome 9 open reading frame 9 9 9 9 q34 106296025 106307156 + 134744111 134755239 + 135754290 135765418 + 6480464 12477932;16169070;16303743;15489334;15164053;14702039;21048031;21900206;22505724 11092 Q6ZNY5;Q96E40 ABBA01032479;AJ011375;AK075259;AK130389;AL445645;AMYH01021792;BC012940;CH471090;CQ783377;CR457210;NM_018956 AAH12940;ADZ15821;BAC11503;BAC85340;CAB66158;CAF86580;CAG33491;EAW88018;EAW88019;EAW88020;NP_061829;Q96E40 Hs.62595 1771984;5014051;5015619;5015879;5016478;5020881;5020948;5022578;5037552 2008;D11S3114;D1S1423;D8S2278;D8S2279;G35510;GDB:314949;GDB:434012;L17709 FLJ26879 OTTHUMP00000022441;OTTHUMP00000022442;Rsb-66 protein;Rsb66 homolog;uncharacterized protein C9orf9 protein-coding ENSG00000165698 1367 12986 PROVISIONAL 1321274 C9orf94 chromosome 9 open reading frame 94 9 p22.1 18816146 18900948 + 15489334;15164053;14702039;12477932 206938 AK092602;AK123028;AK128724;AL158150;AL591423;BC100788;BC100789;BC100790;BX640951;NM_001040272 AAI00789;AAI00790;AAI00791;BAC03925;BAC87592;CAE45975;CAM13086;CAM14351;CAM14352;NP_001035362;Q496M7;Q496M8;Q6MZQ3;Q6ZQU1 Hs.643388 FLJ35283;MGC118803;MGC118805 protein-coding 26642 12989 6898050 CA15P1 carbonic anhydrase XV, pseudogene 1 22 19018766 19022784 - 16083424 100996435 ABBA01005426;AC000095 pseudo 44364 MODEL 6902306 CA15P2 carbonic anhydrase XV, pseudogene 2 22 q11.21 20485854 20487364 - 16083424 440795 ABBA01009187;AC023490;AMYH01012507;NG_029357 1683523;1767133;1767135;2112410 A001T42;D22S1611;G19640;RH25381 pseudo 14916 INFERRED 6897921 CA15P3 carbonic anhydrase XV, pseudogene 3 22 q11.21 21708005 21714771 + 16083424 100996556 AP000552;XM_003846306 XP_003846354 carbonic anhydrase 15-like;carbonic anhydrase XV, pseudogene 3 protein-coding 44363 MODEL 1348503 CA11 carbonic anhydrase XI Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XI is likely a secreted protein, however, radical changes at active site residues completely conserved in CA isozymes with catalytic activity, make it unlikely that it has carbonic anhydrase activity. It shares properties in common with two other acatalytic CA isoforms, CA VIII and CA X. CA XI is most abundantly expressed in brain, and may play a general role in the central nervous system. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 46006137 46014315 - 53833084 53841263 - 49141272 49149451 - 1580863;6480464 9878252;16335952;15489334;12975309;12477932;12044474;11311946;10350627;9878543;18450452;21060863;21926972;23300138 770 M0QXK8;O75493 AB018195;ABBA01032978;AC008888;AF050106;AF067662;AMYH01009904;AY358967;BC002662;BT007265;BX440526;CH471177;CR541772;NM_001217 AAC99689;AAD08802;AAH02662;AAP35929;AAQ89326;ACE86910;ACE87597;BAA36840;CAG46571;EAW52376;EAW52377;EAW52378;NP_001208;O75493 Hs.428446 5112293 RH103095 CARP2;CARPX1 CA-RP II;CA-XI;CARP XI;CARP-2;carbonic anhydrase-related protein 11;carbonic anhydrase-related protein 2;carbonic anhydrase-related protein XI APPROVED protein-coding ENSG00000063180 1370 05225 604644 REVIEWED 1320302 CA1 carbonic anhydrase I Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA1 is closely linked to CA2 and CA3 genes on chromosome 8, and it encodes a cytosolic protein which is found at the highest level in erythrocytes. Variants of this gene have been described in some populations. Multiple alternatively spliced variants, encoding the same protein, have been identified. Transcript variants of CA1 utilizing alternative polyA_sites have been described in literature. [provided by RefSeq, Sep 2009] 8 8 q21.2 86427709 86477594 - 86240458 86290342 - 1580863;6480464 2121614;18029348;17464559;17314045;16870440;15837325;15836783;15489334;14675565;12477932;12009884;11680594;11392054;9879596;7866410;7574487;6781336;4632246;4625868;4217196;4207120;3124707;3104879;3088232;1916821;1602151;827930;804171;406674;15342556;19536309;2511043;21143847;17192395;20624682;22416960;22996014;22619369;21900206;22360420;21988832 759 E5RFE7;E5RFL2;E5RG43;E5RG81;E5RGU8;E5RH81;E5RHP7;E5RHS7;E5RIF9;E5RII2;E5RJF6;E5RJI8;H0YBE2;P00915 ABBA01004009;AC025800;AI802646;AMYH01018835;BC027890;BP261967;BU655910;BU656154;BU659301;BU659695;BU664306;BU665210;CH471068;M33987;NG_016221;NM_001128829;NM_001128830;NM_001128831;NM_001164830;NM_001738;X05014 AAA51910;AAH27890;ABM81856;ABM85017;CAA28663;EAW87129;EAW87130;EAW87131;EAW87132;NP_001122301;NP_001122302;NP_001122303;NP_001158302;NP_001729;P00915 Hs.23118 1723615;2148816;2217094 CA1_3942;RH118415;SHGC-31642 CA-I;CAB;Car1 CA-I;CAB;OTTHUMP00000227973;OTTHUMP00000227974;OTTHUMP00000227976;OTTHUMP00000227977;OTTHUMP00000227978;OTTHUMP00000227979;OTTHUMP00000227981;carbonate dehydratase I;carbonic anhydrase 1;carbonic anhydrase B;carbonic dehydratase APPROVED protein-coding ENSG00000133742 1368 00265 114800 REVIEWED 1352724 CA10 carbonic anhydrase X This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q21.33 47062673 47592376 - 49707674 50237377 - 1580863;6480464 11311946;19240061;19172221;17081983;16344560;15499993;15489334;15328829;12975309;12500287;12477932;12044474;11230166;9921901;8673298;20379614;21102462;23400010 56934 B4DGL6;I3L0J7;I3L375;I3NI54;Q68D28;Q9NS85 AB001597;AB036836;ABBA01041266;ABBA01041267;ABBA01041268;ABBA01041269;ABBA01041270;AC002090;AC004108;AC005883;AC006083;AC016473;AC092713;AF288385;AK294652;AK313001;AL161812;AMYH01008483;AMYH01008484;AW135066;AY358509;BC020577;BC029865;BC047456;BC068462;CH471109;CR749607;DA110822;DA128892;DA518921;NM_001082533;NM_001082534;NM_020178 AAH20577;AAH29865;AAH47456;AAH68462;AAK11974;AAQ88873;ADZ15875;BAB00615;BAB46928;BAG35837;BAG57827;CAB82105;CAH18402;EAW94558;NP_001076002;NP_001076003;NP_064563;Q9NS85 Hs.463466 1335200;1336122;1340733;1341327;1651864;1661830;1665711;1673878;1689320;1695280;1708696;1718705;1722763;1754697;2150280;2181411;2182138;2218326;7186585 A002U30;A008O45;CA10_4487;D17S1388E;D17S1820;D17S2122;D17S809;D17S941;D17S956;G60320;RH11759;RH124024;RH91156;SHGC-133050;SHGC-62998;SHGC-81490;STS-N26826;WI-22496 CA-RPX;CARPX;HUCEP-15 CA-RP X;CARP X;carbonic anhydrase-related protein 10;carbonic anhydrase-related protein X;cerebral protein 15;cerebral protein-15 APPROVED protein-coding ENSG00000154975 1369 05224 604642 REVIEWED 1322168 CA13 carbonic anhydrase XIII Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see MIM 114800.[supplied by OMIM, Mar 2008] 8 8 8 q21.2 82162764 82201350 + 86345259 86383554 + 86157716 86196302 + 1580863;6480464 18336313;16344560;15836783;15489334;14702039;14600151;12477932;17207965 377677 Q8N1Q1 ABBA01004009;ABBA01004010;AC011773;AC025800;AK095314;AMYH01018835;BC052602;CH471068;DB287770;NM_198584 AAH52602;ADQ32140;BAC04528;EAW87128;NP_940986;Q8N1Q1 Hs.127189 1675969;2126295;5015861;5022425;5037552;7185938 D10S16;D22S296;D8S2279;RH99059;WI-16869 CAXIII;FLJ36434;FLJ37995;MGC59868 CA-XIII;OTTHUMP00000227972;carbonate dehydratase XIII;carbonic anhydrase 13 APPROVED protein-coding ENSG00000185015 14914 12992 611436 VALIDATED 1344775 CA5AP1 carbonic anhydrase VA pseudogene 1 16 p11.2 29630106 29648664 - 7490083;15837316;7490083 764 ABBA01013123;ABBA01013124;ABBA01013125;ABBA01013126;ABBA01013127;AC009086;AMYH01007494;NG_027849;XM_113281 CA5P APPROVED pseudo 1379 INFERRED 1315327 CA12 carbonic anhydrase XII Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 15 15 q22 61402783 61461128 - 63615730 63674075 - 6480464;7240710 9636197;18029348;19291313;18451179;18336315;18322268;16416108;15849821;15489334;14702039;14578124;12923247;12854129;12676895;12477932;11680594;11493685;11420383;11238049;11101628;11083462;10666387;10611263;10512682;9770531;8524854;16169070;20132413;20398423;20434230;21035102;21040567;21278619;20215053;20509747;21184099;23348702;22172588;22439015;21139048;21900206;22944692 771 B3KUB4;O43570 ABBA01038912;ABBA01038913;AC087525;AF037335;AF051882;AK000158;AK096845;AK315769;AMYH01006702;BC000278;BC001012;BC011691;BC023981;BC087838;BM994285;BQ440047;BT006656;BU167720;BU944741;CA309380;CH471082;NG_028022;NM_001218;NM_206925 AAC39789;AAC63952;AAH00278;AAH01012;AAH11691;AAH23981;AAP35302;ABM84114;ABM87510;ACE86537;ACE86542;ACE87216;ACE87223;BAA90981;BAG38121;BAG53376;EAW77646;EAW77647;EAW77648;EAW77649;EAW77650;NP_001209;NP_996808;O43570 Hs.210995 1644386;1760859;1763507;1848736;1853234;2107905;2185289 CA12_8238;D15S1357;RH47249;SHGC-144530;SHGC-147205;SHGC-32776;SHGC-36693 CAXII;FLJ20151;HsT18816 CA-XII;OTTHUMP00000163786;OTTHUMP00000163787;carbonate dehydratase XII;carbonic anhydrase 12;carbonic dehydratase;tumor antigen HOM-RCC-3.1.3 APPROVED protein-coding 1371 04464 143860;603263 REVIEWED 1317436 CA14 carbonic anhydrase XIV Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008] 1 1 1 q21 123345949 123353209 + 148488047 148504102 + 150230218 150237478 + 1580863;6480464 10512682;17881426;16710414;15489334;14702039;14578124;12975309;12611920;12477932;12028451;11172051;20170095;20379614 23632 A8K3J4;Q9ULX7 AB025904;ABBA01049330;AC242988;AK074765;AK290609;AK295341;AK315469;AL138795;AMYH01001373;AY358689;BC034412;BT020054;CH471121;NM_012113 AAH34412;AAQ89052;AAV38857;ABM84715;ABM92237;BAA85002;BAC11191;BAF83298;BAG37855;BAG58312;CAI22810;EAW53570;EAW53571;EAW53572;EAW53573;EAW53574;NP_036245;Q9ULX7 Hs.528988 1652765;1655085;2109103 CA14_9388;SGC31751;SHGC-32182 CAXiV CA-XIV;OTTHUMP00000014540;carbonate dehydratase XIV;carbonic anhydrase 14;carbonic dehydratase APPROVED protein-coding ENSG00000118298 1372 05320 604832 REVIEWED 6481393 CA5B-AS1 CA5B antisense RNA 1 100873927 AC096510 APPROVED miscrna 40115 1347153 CA5A carbonic anhydrase VA, mitochondrial Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008] 16 16 16 q24.3 72219173 72267375 - 86479126 86527613 - 87921625 87970112 - 1580863;6480464 8356065;7490083;17174092;10082753;9733757;12477932;20877624;21906983;22632162 763 P35218 ABBA01006923;ABBA01006924;ABBA01006925;AC127455;AC133539;AMYH01007904;BC137405;BC137411;CH471114;L19297;NG_033227;NM_001739;S80181;U25134 AAA02890;AAB47048;AAC99806;AAI37406;AAI37412;EAW95371;EAW95372;NP_001730;P35218 Hs.177446 1685768;1703702;1757011;2128177;2167638 RH70394;RH71359;SHGC-144370;SHGC-64110;SHGC-78863 CA5;CAV;CAVA CA-VA;OTTHUMP00000175040;carbonate dehydratase VA;carbonic anhydrase 5A, mitochondrial;carbonic anhydrase V, mitochondrial;carbonic dehydratase APPROVED protein-coding ENSG00000174990 1377 00262 114761 REVIEWED 1346033 CA5BP1 carbonic anhydrase VB pseudogene 1 X X X p22.2 19808527 19836963 + 15602213 15631236 + 15693039 15721474 + 737633;1580863;6480464 12477932 16344560;12107413 340591 Q8WTZ4;Q9P170 ABBA01071335;ABBA01071336;ABBA01071337;ABBA01071338;ABBA01071339;AC112497;AMYH01022108;BC021816;BQ228866;CD675860;DB271346;NR_026551 Q8WTZ4 Hs.732244 1656675;1699328;1727615;2144835 G31008;G63217;RH103251;RH78665 CA5BL;CA5BP;PRO2325 APPROVED pseudo ENSG00000186312 29544 VALIDATED 1353547 CA3 carbonic anhydrase III, muscle specific Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008] 8 8 q21.2 86537710 86548526 + 86351056 86361269 + 1580863;6480464 3086182;19301202;18444244;18322545;16344560;15489334;14702039;12745799;12484342;12477932;12171926;11976500;11024467;10845711;9890711;9651514;8633035;8506074;7574487;6784712;6770531;6410007;6221502;6119426;3930440;3122635;3110380;3106467;3099285;3000276;2824285;1971453;1905166;1764784;1414196;1361281;120192;17207965;22797148;23049597 761 E5RHI4;P07451 ABBA01004009;AC084734;AJ006473;AK096880;AK300670;AK300677;AK313254;AMYH01018835;BC004897;CH471068;DA421884;M29452;M29453;M29454;M29455;M29456;M29457;M29458;NM_005181 AAA52293;AAH04897;ADQ31847;BAG36064;BAG53390;BAG62355;BAG62360;CAA07056;EAW87133;EAW87134;NP_005172;P07451 Hs.82129 1712218;1722435;1741625;2157558;2168883;5022592 D8S1367E;G54016;G60292;GDB:181594;SHGC-35614;WI-16407 CAIII;Car3;FLJ36434 CA-III;OTTHUMP00000227990;carbonate dehydratase III;carbonic anhydrase 3 APPROVED protein-coding ENSG00000164879 1374 00260 114750 REVIEWED 1353429 CA4 carbonic anhydrase IV Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008] 17 17 q23 55582131 55591686 + 58227302 58236907 + 1600730;1580863;6480464;7240710 15090652 1311094;6811592;19211803;18344446;17881426;17652713;17409381;16344560;15563508;15489334;14567693;12477932;11994299;10231836;10090333;9632745;9385361;8942978;8903383;8809084;8675662;8325641;8064130;7672351;7625839;7581389;2116168;2111324;1901414;17207965;20801516;20308551;20450258;20626030;21680735;17500595;23049597;22021688;20301590;21988832;23297198 762 B4DQA4;K7EIH9;K7EKY5;K7ENI8;P22748;Q6FHI7 ABBA01035417;AC025048;AI990988;AK289715;AK298710;AMYH01008526;BC057792;BC069649;BC074768;CH471109;CR541766;DA113846;L10955;M83670;NG_012050;NM_000717 AAA35625;AAA35626;AAA35630;AAH57792;AAH69649;AAH74768;ADQ32513;BAF82404;BAG60866;CAG46565;EAW94361;EAW94362;EAW94363;NP_000708;P22748 Hs.89485 1337712;1339975;1676488;2180226 D17S807;D17S808;RH71355;RH79679 CAIV;Car4;RP17 CA-IV;carbonate dehydratase IV;carbonic anhydrase 4;carbonic dehydratase IV APPROVED protein-coding ENSG00000167434 1375 00261 114760;600852 REVIEWED 737257 CA2 carbonic anhydrase II CA2 is one of several (at least 7) isozymes of carbonic anhydrase. Carbonic anhydrase catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. [provided by RefSeq, Jul 2008] 8 8 q22 86563383 86580973 + 86376131 86393721 + 1600698;1600710;1580863;1300048;6480464;6907045;7240710 1301935;10977795 1928091;3151020;114507;18029348;19371798;19034380;19012038;18942852;18580434;18539591;18323598;18247480;18189416;18083150;18060825;17881426;17631639;17363915;17319695;17319692;17202139;16996812;16825953;16687407;16475831;16344560;16265785;16169070;16106378;15952740;15837325;15837316;15836783;15667203;15489334;15453828;15300855;15218065;15062553;15049705;14760703;14736710;14718574;14675565;14578124;14567693;12933803;12826902;12566520;12501217;12477932;12411514;12171926;12138085;12056894;11956656;11606574;11457932;11264157;11076507;11063570;10821857;10820026;10811634;10423017;10333352;10231836;9890926;9774471;9541386;9453381;9336790;9205766;9150731;9143915;8834238;8460098;8128957;8127074;7930522;7627193;7574487;6817747;6407977;4624444;4621826;4207120;3925334;3221988;3151019;3121496;3108857;3107918;3081869;3000449;2850697;2123360;2121671;2117271;1977133;1925679;1602151;1542674;823150;20398423;20578724;20081808;20637176;20693695;14675051;19269136;19407386;19415900;19520834;19583303;19615732;19634894;19686046;20000378;20025241;20170095;20297840;20445237;20445238;20634585;20509747;22416960;21282642;21145876;23030313;23181366;21243755;16196087;21543742;20849852;22001224;21680735;22732064;20360068;21988105;21139048;21890473;22386980;21145461;22192857;15990874;23215152;23098192 760 E5RID5;E5RK37;P00918 ABBA01004009;AC084734;AF015039;AK312978;AMYH01018835;BC011949;BC035424;CH471068;CR536526;CR541875;DA431650;J03037;M36532;M77178;M77181;NG_007287;NM_000067;S69526;X03251;Y00339 AAA51908;AAA51909;AAA51911;AAB30170;AAH11949;ABM82246;ABM85430;BAG35815;CAA27012;CAA68426;CAG38763;CAG46673;EAW87136;NP_000058;P00918 Hs.155097 1694926;1722451;1852788;2114723;5109679 D8S1418E;D8S1912;G44354;G60153;RH11468 CA-II;CAC;CAII;Car2 CAC;OTTHUMP00000227991;carbonate dehydratase II;carbonic anhydrase 2;carbonic anhydrase B;carbonic anhydrase C;carbonic dehydratase APPROVED protein-coding ENSG00000104267 1373 02023 259730;611492 REVIEWED 1323700 CA6 carbonic anhydrase VI The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008] 1 1 p36.2 8928509 8957738 + 9005893 9035151 + 1580863;6480464 22198626;2433278;17499996;16710414;15342556;12477932;11875253;11553764;11304804;11303978;10705347;10523402;10415846;10207193;9784398;9691177;9439449;8429198;2505973;2113069;1899030;19721466;20379614;20631203;22366092;21631296;21712049 765 B4DUH8;F8W148;P23280;Q8N4G4 AB102863;AB103091;ABBA01035528;ABBA01035529;ABBA01035530;ABBA01035531;AF128418;AK300652;AL139415;AMYH01000230;BC034350;BP333541;BP334640;BX282262;CB956732;CH471130;M57892;NM_001215;NM_001270500;NM_001270501;NM_001270502 AAA51892;AAF22565;AAH34350;ADZ15992;BAD89397;BAD89434;BAG62340;EAW71606;NP_001206;NP_001257429;NP_001257430;NP_001257431;P23280 Hs.100322 1745773;2129525 GDB:636125;SHGC-74181 CA-VI;GUSTIN;MGC21256 OTTHUMP00000001699;OTTHUMP00000242906;OTTHUMP00000242907;carbonate dehydratase VI;carbonic anhydrase 6;salivary carbonic anhydrase;secreted carbonic anhydrase APPROVED protein-coding ENSG00000131686 1380 00264 114780 REVIEWED 1343079 CA5B carbonic anhydrase VB, mitochondrial Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VB is localized in the mitochondria and shows the highest sequence similarity to the other mitochondrial CA, CA VA. It has a wider tissue distribution than CA VA, which is restricted to the liver. The differences in tissue distribution suggest that the two mitochondrial carbonic anhydrases evolved to assume different physiologic roles. [provided by RefSeq, Jul 2008] X X X p21.1 19872853 19923232 + 15666333 15715669 + 15756412 15805748 + 1580863;6480464 10677517;10409679;17174092;15489334;15342556;14702039;12477932;11303978;7574487;17207965;19322201 11238 C9IZP3;C9JA11;H7C4G3;Q9Y2D0 AA811880;AB021660;ABBA01071344;ABBA01071345;ABBA01071346;ABBA01071347;ABBA01071348;ABBA01071349;ABBA01071350;ABBA01071351;AC096510;AC112497;AK057568;AK291050;AMYH01022109;AMYH01022110;BC028142;BP371510;CH471074;NG_012766;NM_007220 AAH28142;ADQ32291;BAA76671;BAF83739;EAW98895;EAW98896;EAW98897;EAW98898;NP_009151;Q9Y2D0 Hs.744128 1656445;1656675;1681895;1701782;1702968;1852010;2114626;2143170;5014051;5015619;5016596;5020948;5022200;5022450;5037552;5112017 Cda1bf09;D10S275;D11S3114;D8S2278;D8S2279;DXS1292;DXS1351;DXS6753;G24103;G31008;G35510;G44365;GDB:631802;L17739;L18426;RH47691 CA-VB;MGC39962 OTTHUMP00000215056;carbonate dehydratase VB;carbonic anhydrase 5B, mitochondrial;carbonic dehydratase APPROVED protein-coding ENSG00000169239 1378 02207 300230 REVIEWED 1315686 CA7 carbonic anhydrase VII Carbonic anhydrases are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. The cytosolic protein encoded by this gene is predominantly expressed in the salivary glands. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 51386593 51396359 + 65435783 65445551 + 66878282 66888050 + 1580863;6480464 1783392;15686895;15528236;15489334;12477932;12417987;11875253;10493829;7574487;20493921 766 F8W0L0;P43166 ABBA01025418;AC004638;AC044802;AMYH01007742;AY075019;AY075020;BC033865;BI752037;CH471092;M76420;M76421;M76422;M76423;M76424;M76425;NM_001014435;NM_005182 AAA51923;AAC23785;AAH33865;AAL78167;AAL78168;ABM86190;ABW03694;EAW83044;EAW83045;EAW83046;EAW83047;NP_001014435;NP_005173;P43166 Hs.37014 2115806;2218328 CA7_4490;SHGC-60620 CAVII CA-VII;OTTHUMP00000174821;OTTHUMP00000242940;carbonate dehydratase VII;carbonic anhydrase 7;carbonic dehydratase VII APPROVED protein-coding ENSG00000168748 1381 00263 114770 REVIEWED 1312313 CA8 carbonic anhydrase VIII The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. [provided by RefSeq, Jul 2008] 8 8 q12.1 61263977 61356508 - 61101423 61193954 - 1580863;6480464;7240710 8977131;19461874;19172221;17219437;15489334;14702039;12611586;12536316;12477932;12044474;8482548;7821612;7587398;16169070;17207965;19360879;20819067;21348951;21812104;21139048;21890473;22952603;23251661 767 P35219 ABBA01041806;ABBA01041807;ABBA01041808;AC021393;AC132834;AK090655;AK289470;AK293999;AK314538;AMYH01018752;AY075022;BC015531;BC069744;BC069794;BC108929;BM462961;BU182748;CH471068;L04656;NG_023193;NM_004056 AAA35653;AAH69744;AAH69794;AAI08930;AAL78170;ADQ32952;BAF82159;BAG37128;BAG52209;BAG57361;EAW86824;EAW86825;EAW86826;NP_004047;P35219 Hs.654388 1663421;1669014;1672244;1673079;1696372;1698416;1716197;1718613;1847711;1849836;1855476;1855563;2140741;2150351;2165212;2175435 RH102752;RH121122;RH122992;RH16300;RH16303;RH70118;RH70985;SGC34477;SGC44649;SHGC-32354;SHGC-34991;SHGC-44649;SHGC-77819;STS-H58922;WI-17948;WI-21909 CA-VIII;CALS;CAMRQ3;CARP;MGC120502;MGC99509 CA-related protein;OTTHUMP00000229370;carbonate dehydratase;carbonic anhydrase-like sequence;carbonic anhydrase-related protein APPROVED protein-coding 1382 00266 114815;613227 REVIEWED 1315034 CA9 carbonic anhydrase IX Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and the only tumor-associated carbonic anhydrase isoenzyme known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jul 2008] 9 9 p13.3 35663915 35671152 + 35673915 35681156 + 1580863;2293190;2293194;2293199;2293200;2293204;2293196;2293198;2293201;2298945;2298947;2298946;2293191;2293193;2293195;2293197;6480464;6484113 18483361;17280655;12883698;12687273;16714773;17233814;12966427;11506497;17452774;15069539;17429140;18464292;17308115;17245699;14520462 22289741;8661007;19367501;19291313;19204726;19165203;19074859;19022520;19008051;18941400;18841153;18728663;18703501;18695901;18676750;18482982;18440050;18336316;18336315;18290322;18173856;18060036;18026188;17906661;17855694;17852557;17706406;17674038;17652430;17536770;17452775;17390110;17367605;17200340;16964400;16954440;16944313;16533775;16428489;16416108;16288478;16243791;16168127;15935515;15856466;15849821;15847702;15837325;15833446;15809767;15671533;15585626;15556624;15500003;15489334;15340161;15240538;15199132;15184875;14654550;14578124;14567991;12865916;12854129;12676895;12615703;12576453;12560438;12477932;12154057;12137853;11705854;11680594;11676494;11303978;11083462;10709109;9787087;9770531;9524195;9024293;8486430;8084592;1312272;22430125;22484976;20398423;20526721;21223596;21281785;21306648;22367930;20819778;20840814;21040473;21088149;18976937;19347577;19458084;19469910;19473055;19539328;19540352;19564335;19619339;19805286;19861127;19950233;20127031;20170095;20358226;20461082;20038959;20423227;20224781;19808899;19913121;20514415;20628086;20521252;20964835;20978319;23181366;21209841;21454639;22918393;21302028;21363891;22939629;21966417;21691815;21959110;21090098;21442770;21761968;19017360;19523858;21249485;21547579;21694464;21870331;16236267;22175902;22199327;22037869;22976806;23226559;21519917;21910893;22170054;22486898;22147747;22465027;20875751;21745383;22133596;22699808;22843905;23226406;23074198;23098453;23299542;23372804;20822935;22436629;22366443;23263636 768 Q16790 ABBA01064988;AI023541;AJ010588;AL133410;AL357874;AL554705;AMYH01019347;BC014950;CH471071;EF122496;HC729665;NM_001216;X66839;Z54349 AAH14950;ABL67717;ABM83134;ABM86330;CAA47315;CAB82444;CBL94025;EAW58359;NP_001207;Q16790 Hs.63287 2132345;2138117 RH66792;STS-X66839 CAIX;MN CA-IX;OTTHUMP00000022773;P54/58N;RCC-associated antigen G250;RCC-associated protein G250;carbonate dehydratase IX;carbonic anhydrase 9;carbonic dehydratase;membrane antigen MN;pMW1;renal cell carcinoma-associated antigen G250 APPROVED protein-coding ENSG00000107159 1383 04417 603179 REVIEWED 1345026 CABLES2 Cdk5 and Abl enzyme substrate 2 20 20 20 q13.33 57698960 57717613 - 60397081 60415734 - 60963686 60982339 - 737633;1580863;6480464 12477932 15489334;14637168;11955625;11780052;20056645 81928 H0Y5H2;Q9BTV7 ABBA01040087;AI066606;AL121832;AMYH01012053;AMYH01012054;BC003122;BC011196;BU166894;CA420818;CB960872;CH471077;NM_031215;XM_003960792 AAH03122;EAW75364;EAW75365;EAW75366;NP_112492;Q9BTV7;XP_003960841 Hs.301040 1650878;1669353;2110999 D20S141E;RH12076;RH64856 C20orf150;dJ908M14.2;ik3-2 CDK5 and ABL1 enzyme substrate 2;OTTHUMP00000031481;OTTHUMP00000031482;interactor with CDK3 2 protein-coding ENSG00000149679 16143 12994 VALIDATED 1344567 CAAP1 caspase activity and apoptosis inhibitor 1 9 9 9 p21.2 26768847 26820992 - 26830683 26882725 - 26840683 26892826 - 6480464 19240061;17081983;15489334;15164053;14702039;12477932;9110174;8619474;16169070;15302935;15342556;20379614;17207965;23383273;21832049;19322201;21980415 79886 E5RFV1;E5RFW3;Q9H8G2 ABBA01065135;AF131768;AK023719;AK300739;AK301673;AL356133;AMYH01019295;BC014658;BC071953;BP228742;BP374752;CH471071;NM_001167575;NM_024828 AAH14658;AAH71953;ADQ32016;BAB14655;BAG62409;BAG63146;EAW58576;EAW58577;EAW58578;EAW58579;NP_001161047;NP_079104;Q9H8G2 Hs.178357 1771102;1848124;2121485;2175608 A007F33;D9S2086;WI-13926;WI-21850 C9orf82;CAAP;FLJ13657;RP11-337A23.1 OTTHUMP00000021163;caspase activity and apoptosis inhibitor 1;conserved anti-apoptotic protein;hypothetical protein LOC79886;uncharacterized protein C9orf82 APPROVED protein-coding ENSG00000120159 25834 12981 VALIDATED 1345299 CABP3 calcium binding protein 3 The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. Study of the transcripts and genomic structure revealed that the 5' end of this gene is complementary and reverse to that of the CABP5 gene, and the sequence beyond the overlapping region is nearly identical to that of CABP5. Thus, these two genes encode the protein products with distinct N-terminal halves but identical C-terminal halves. [provided by RefSeq] q13.33 1580863 10625670;11785943 51476 AF170816;AF170817;AF170818;AF224511 AAF27810;AAF27811;Q9NZU6 protein-coding 15960 1313589 CABLES1 Cdk5 and Abl enzyme substrate 1 This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 18 18 q11.2 18969725 19092615 + 20714528 20840434 + 737633;1580863;6480464 12477932 11706030;17101133;19266077;18391951;18059193;17982127;16964243;16177791;16177568;15489334;14729625;14702039;14637168;13679449;12612882;11955625;11733001;11585773;11527406;10896159;10873625;19247474;20189936;20694014;20546612;15174051;23455922;23505323;21890215;20881960;22139419 91768 A7K6Y5;J3QRY5;Q8TDN4 ABBA01022639;ABBA01022640;ABBA01022641;AC011731;AC105247;AF348525;AK025627;AK093243;AK296407;AK304880;AMYH01008884;AMYH01008885;BC004124;BC015686;BC037218;CH471088;EF028204;EF444961;NM_001100619;NM_001256438;NM_138375;NR_023359 AAH04124;AAH37218;AAL83906;ABL77400;ACA05957;BAC04107;BAG59072;BAG65617;EAX01147;EAX01148;NP_001094089;NP_001243367;NP_612384;Q8TDN4 Hs.11108 1774728;2136073 A004P17;UniSTS:37732 CABL1;CABLES;FLJ35924;HsT2563;IK3-1 CDK5 and ABL1 enzyme substrate 1;interactor with CDK3 1 APPROVED protein-coding ENSG00000134508 25097 16461 609194 VALIDATED 1314979 CAB39 calcium binding protein 39 2 2 q37.1 231285909 231394031 + 231577557 231685790 + 1600678;1580863;6480464;6907045 15509864 17353931;19386264;18854318;16344560;15561763;15489334;15183188;14976552;14730349;14676191;14517248;12477932;10810093;8910387;20562859;16054041;19513107;19892943;21423148;22939629;21139048;21890473;21906983;22318606;22179124 51719 A8K8L7;Q9Y376 AB073893;ABBA01050113;ABBA01050114;AC012507;AC084031;AF113536;AF134480;AF151824;AK000804;AK026335;AK292382;AK315692;AMYH01011551;AMYH01011552;AMYH01011553;BC020570;BG773506;CH471063;DA886579;DB455871;NM_001130849;NM_001130850;NM_016289 AAD34061;AAF14873;AAH20570;AAP97257;AAY14829;BAF85071;BAG38055;EAW70932;EAW70933;NP_001124321;NP_001124322;NP_057373;Q9Y376 Hs.603930 1339006;1645935;1653878;1678945;1705866;1734812;1855398;2110293;2158794;2169583;2170729;5024613 A002Q38;CAB39_9754;D2S1575E;D2S2340;G06903;NIB1194;RH46522;RH68250;RH69702;RH94102;SHGC-81194;WI-17440 CGI-66;FLJ22682;MO25 MO25alpha;OTTHUMP00000164293;OTTHUMP00000204438;OTTHUMP00000204439;calcium-binding protein 39 protein-coding ENSG00000135932 20292 10091 612174 VALIDATED 732324 CABIN1 calcineurin binding protein 1 Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011] 22 22 q11.23 22737765 22904596 + 24407765 24574596 + 734676;6480464 8896451 9655484;17531200;15902271;15683985;15671033;15063762;14718166;14623296;12700764;12477932;11714752;10933397;10931822;10825153;10591208;10531067;9205841;9150134;19505873;19913121;20628086;17172641;19668210;19717561;19817957;20075944;20379614;21414300;18029348;21139048;22195966;23624525;21807893;22401310;22275266 23523 B5MEB3;C9J068;C9JT60;G5E9F3;Q6PHY0;Q9Y6J0 AB002328;ABBA01055126;ABBA01055127;ABBA01055128;ABBA01055129;ABBA01055130;AF072441;AK307522;AL390166;AL703593;AMYH01012660;AMYH01012661;AMYH01012662;AP000351;AP000352;AP000353;BC013099;BC021929;BC028969;BC041659;BC054497;CH471095;NM_001199281;NM_001201429;NM_012295;Z92546 AAD40846;AAH21929;AAH28969;AAH41659;AAH54497;BAA20788;CAB62954;CAB99097;EAW59637;EAW59638;EAW59639;EAW59640;NP_001186210;NP_001188358;NP_036427;Q9Y6J0 Hs.517478 1335420;1646075;1646202;1696902;1697454;1733266;1759157;1759941;1772850;2121477;2218330 CABIN1_4493;D22S1174;D22S345;D22S613;D22S651;G18177;RH101917;RH102228;SHGC-150952;SHGC-170345;STS-R43261 CAIN;KIAA0330;PPP3IN OTTHUMP00000198540;OTTHUMP00000198541;OTTHUMP00000208363;cain;calcineurin binding protein cabin 1;calcineurin inhibitor;calcineurin-binding protein cabin-1 APPROVED protein-coding ENSG00000099991 24187 10369 604251 REVIEWED 1319011 CAB39L calcium binding protein 39-like 13 13 13 q14.2 30938637 31073173 - 48780787 48916222 - 49882786 50018221 - 1580863;6480464;6907045 17353931;18592235;16344560;15489334;15057823;14702039;12601173;12477932;8889548;16054041;20379614;20562859;21240483;20706999;23135622 81617 B7ZBJ4;B7ZBJ5;B7ZBJ6;B7ZBJ7;Q5TAW7;Q9H9S4 AA278473;ABBA01051015;ABBA01051016;AK022639;AK309011;AL136218;AL138875;AMYH01005107;AMYH01005108;AY211923;AY288977;BC010993;BX647518;CA450475;CH471075;DA146462;DB279812;NM_001079670;NM_030925 AAH10993;AAO65176;AAQ93064;BAB14147;EAX08820;EAX08821;EAX08822;EAX08823;NP_001073138;NP_112187;Q9H9S4 Hs.87159 1334605;1646976;1682483;1699448;1761641;2110291;2138912;2158159;2166912;7186549 CAB39L__4492;D13S1185;D13S165;D13S1678;G17736;RH103315;RH91905;SHGC-145628;STS-N23383 FLJ12577;MO25-BETA;MO2L;RP11-103J18.3;bA103J18.3 MO25beta;OTTHUMP00000018410;OTTHUMP00000018411;OTTHUMP00000018412;OTTHUMP00000205794;U937-associated antigen;antigen MLAA-34;calcium-binding protein 39-like;mo25-like protein;sarcoma antigen NY-SAR-79 protein-coding ENSG00000102547 20290 12993 612175 VALIDATED 1348796 CABP7 calcium binding protein 7 22 22 22 q12.2 13916071 13927549 + 28446344 28457822 + 30116344 30127822 + 737633;6480464 12477932 19338761;15489334;11785943;7566098;22989873 164633 Q86V35 AA351919;ABBA01055274;ABBA01055275;ABBA01055276;ABBA01055277;AC004882;AMYH01012701;AMYH01012702;BC051805;BX488512;CH471095;NM_182527 AAH51805;ADR82654;EAW59834;EAW59835;NP_872333;Q86V35 Hs.643608 1678875;1682846;1772798;1850863;2174924 A007D33;RH27831;RH45735;STS-L11353;WI-12398 CALN2;MGC57793 OTTHUMP00000199672;calcium-binding protein 7;calneuron 2;calneuron II;calneuron-2 protein-coding ENSG00000100314 20834 12995 VALIDATED 1345908 CABYRP1 calcium binding tyrosine-(Y)-phosphorylation regulated pseudogene 1 3 3 3 p21.1 54048406 54049611 - 54056514 54058124 - 54081687 54082892 - 266954 ABBA01024468;AC115282;AMYH01013196;NG_002394 1699816 RH103515 CABYRP calcium binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2) pseudogene;calcium-binding tyrosine-(y)-phosphorylation regulated (fibrousheathin 2) pseudogene APPROVED pseudo 31902 INFERRED 1344745 CACD central areolar choroidal dystrophy 7240710 8733141;9733038 772 1387 731282 CABP1 calcium binding protein 1 Calcium binding proteins are an important component of calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily of calcium binding proteins which share similarity to calmodulin. The protein encoded by this gene regulates the gating of voltage-gated calcium ion channels. This protein inhibits calcium-dependent inactivation and supports calcium-dependent facilitation of ion channels containing voltage-dependent L-type calcium channel subunit alpha-1C. This protein also regulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors, P/Q-type voltage-gated calcium channels, and transient receptor potential channel TRPC5. This gene is predominantly expressed in retina and brain. Alternative splicing results in multiple transcript variants encoding disinct isoforms. [provided by RefSeq, Jul 2012] 12 12 q24.31 119562805 119589510 + 121078422 121105127 + 1580863;6480464;7204681 20668007 14570872;12477932;11865310;10625670;8889548;14685260;12032348;11108966;9920909;15980432;15140941;19008222;17960496;16470652;16147998;14702039;22693956;21134641;21383011;22996592;19338761;21608059 9478 C9J8G2;Q9NZU7 ABBA01020131;ABBA01020132;AC069234;AF169148;AF169149;AK127203;AL533429;AMYH01004803;BC015006;BC030201;BM716422;BQ188859;CH471054;NG_029321;NM_001033677;NM_004276;NM_031205 AAF25782;AAF25783;AAH30201;ABM86439;ABW03794;EAW98209;EAW98210;EAW98211;NP_001028849;NP_004267;NP_112482;Q9NZU7 Hs.458482 1698862;2130496 D12S183;RH102996 CALBRAIN;HCALB_BR OTTHUMP00000210617;OTTHUMP00000210618;OTTHUMP00000210619;OTTHUMP00000210620;calcium binding protein 5;calcium-binding protein 1;caldendrin APPROVED protein-coding ENSG00000157782 1384 605563 REVIEWED 1348224 CABP2 calcium binding protein 2 This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction.[provided by RefSeq, Nov 2010] 11 11 11 q13.1 64620821 64625302 - 67042994 67047475 - 67286418 67290899 - 1580863;6480464;7204681 20668007 10625670;12477932;11415439;11108966;21697133;19338761;22981119 51475 F5H458;Q9NPB3 AB593136;ABBA01024030;AF169154;AF170811;AMYH01003747;AP001184;BC018476;CH471076;NG_032982;NM_016366 AAF25788;AAF26283;AAI52747;BAJ84076;EAW74645;EAW74646;EAW74647;NP_057450;Q9NPB3 Hs.278984 DFNB93 OTTHUMP00000237584;OTTHUMP00000238412;calcium-binding protein 2 APPROVED protein-coding ENSG00000167791 1385 09535 607314;614899 REVIEWED 1604567 CABS1 calcium-binding protein, spermatid-specific 1 4 4 4 q13.3 68558418 68560580 + 71235260 71237422 + 71200671 71202833 + 6480464 16344560;14702039;12477932;19208547;19271754;17207965 85438 Q96KC9 ABBA01022926;AC106884;AF380838;AK057459;AK315022;AMYH01014276;BC034492;BC046111;BX098854;CH471057;DB027445;HC007196;HC044633;NM_033122 AAH46111;AAK57455;ADQ33118;BAB71497;BAG37512;CBH19403;CBH30646;EAX05615;EAX05616;NP_149113;Q96KC9 Hs.120316 1697370 RH102183 C4orf35;CLPH;FLJ32897;NYD-SP26 OTTHUMP00000159771;calcium-binding and spermatid-specific protein 1;calcium-binding protein, sperm-specific 1;casein-like phosphoprotein;testis development protein NYD-SP26 APPROVED protein-coding ENSG00000145309 30710 14865 VALIDATED 1314493 CABP4 calcium binding protein 4 This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. [provided by RefSeq, Mar 2010] 11 11 11 q13.2 64556021 64562452 + 66979394 66983267 + 67222818 67229245 + 1580863;6480464;7204681;7240710 20668007 16960802;15452577;10625670;19074807;16554811;15489334;12477932;1316906;20157620;8889548;20801516;22936811;19338761 57010 F5H3E8;P57796 ABBA01024032;AMYH01003747;AP003419;AY039217;BC033167;BM665388;CH471076;NG_021211;NM_145200 AAH33167;AAK83462;EAW74627;EAW74628;EAW74629;EAW74630;NP_660201;P57796 Hs.143036 1733720;5016478;5037552 D11S2072;D8S2279;GDB:434012 CSNB2B OTTHUMP00000237645;OTTHUMP00000237671;calcium-binding protein 4 APPROVED protein-coding 1386 12344 608965;610427 REVIEWED 1317691 CABP5 calcium binding protein 5 The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. [provided by RefSeq, Oct 2009] 19 19 19 q13.33 45398355 45412448 - 53225022 53239116 - 48532640 48547311 - 1580863 10625670;15489334;12477932;11785943;8889548;11108966;7566098;19338761;18029348 56344 Q9NP86 AA318398;ABBA01033017;ABBA01033018;AC010330;AC010458;AF169159;AF170812;AF170813;AF170814;AF170815;AMYH01009896;BC126133;BC126135;BQ185108;BU734136;CH471177;NM_019855 AAF25793;AAF25798;AAI26134;AAI26136;ADR82830;EAW52310;NP_062829;Q9NP86 Hs.117694 2149490 SHGC-30732 CABP3 Calcium-binding protein 3;calcium-binding protein 5 APPROVED protein-coding 13714 09537 607315 REVIEWED 735950 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Mar 2010] 19 19 p13 13178256 13478274 - 13317256 13617274 - 1358570;734669;1358446;2311105;6480464;6907045;7240710;7204688 10945665;11342703;14530926;16868246;21746798 22190617;8692999;11865310;12451115;16595610;8825650;19527141;19429006;19259763;19235102;19189122;19145126;19007941;18976783;18973067;18940563;18758887;18755274;18670797;18644040;18606230;18602318;18581134;18541804;18513263;18498393;18478327;18437043;18413478;18400034;18338196;18313928;18285829;18279427;18162541;18056581;17672918;17654512;17588611;17573560;17438119;17418573;17292920;17289272;17119788;17020933;16508934;16389595;16382099;16373336;16325861;16306128;16186543;16043807;15985579;15827025;15826995;15795222;15743764;15728831;15710862;15545010;15504897;15504896;15474358;15452324;15448138;15362569;15293273;15254089;15240985;15223312;15210532;15057824;15026782;15026160;15003170;14756671;14681882;14592859;14570872;14534930;12756131;12736095;12707077;12676347;12545428;12542511;12527722;12461694;12235360;12056940;12049805;11971066;11960817;11843866;11804332;11803518;11742003;11723274;11320173;11179022;11176968;11061267;10987655;10753886;10737800;10607897;10212211;10049321;9600739;9442082;9311738;9303303;9302278;9259275;9238069;9009193;8988170;8898206;8525433;8220421;7823133;1370480;15953418;21078624;20156848;19242091;19438926;19486177;19520699;19586927;19633872;19811514;19864665;20069235;20071244;20080591;20129625;20379614;19336002;19624685;20484531;20043227;20837964;20091047;20301319;20301674;20495360;21183743;20631222;19182766;22549042;22969264;16147992;20043243;21788606;21827907;21827920;21186355;21768184;22942164;23255606;21965686;22074995;21440913;21696515;21906983;20301562;21550405;23407676;23103419 773 B5TYJ1;I3L2V5;I3L313;I3L391;K7EIF8;K7EKF7;K7EQ95;Q99792;Q9NS89 AB035726;AB035727;ABBA01029742;ABBA01029743;ABBA01029744;ABBA01029745;ABBA01029746;ABBA01029747;ABBA01029748;ABBA01029749;ABBA01029750;ABBA01029751;AC005305;AC005513;AC008540;AC011446;AC022436;AC026805;AC093062;AC098781;AC124224;AF004883;AF004884;AF100774;AF144098;AF152345;AMYH01009503;AMYH01009504;AMYH01009505;AMYH01009506;AMYH01009507;BQ340521;CH471106;FJ040507;NG_011569;NM_000068;NM_001127221;NM_001127222;NM_001174080;NM_023035;S76537;U06702;U79663;U79664;U79665;U79666;U79667;U79668;X99897 AAB33068;AAB49674;AAB49675;AAB49676;AAB49677;AAB49678;AAB61612;AAB61613;AAB64179;AAC26839;AAC77460;AAD38386;AAF03935;ACH89974;BAA94765;BAA94766;CAA68172;EAW84361;EAW84362;EAW84363;EAW84364;EAW84365;EAW84366;NP_000059;NP_001120693;NP_001120694;NP_001167551;NP_075461;O00555 Hs.501632 1338443;1710728;1721999;1728735;1728737;1767776;2112236;5019597;5019599;5019601;5019603;5019605;5092486;5092488;5092490;5092492;5092494;5092496;5092498;5092500;5092502;5092504;5092506;5092508;5092510;5092512;5092514;5092516;5092518;5092520;5092522;5092524;5092528;5092534;5092538;5092540;5092542;5092544;5092546;5092548;5092550;5092552;5092554;5092556;5092558;5092560;5092562;5092564;5092566;5092568;5092570;5092572;5092574 D19S1150;D19S564;G49217;G49219;G54374;G54375;G54376;G54377;G54378;G54379;G54380;G54381;G54382;G54383;G54384;G54385;G54386;G54387;G54388;G54389;G54390;G54391;G54392;G54393;G54394;G54395;G54397;G54398;G54401;G54403;G54404;G54405;G54406;G54407;G54408;G54409;G54410;G54411;G54412;G54413;G54414;G54415;G54416;G54417;G54418;G54419;G54420;G54422;G54423;G54424;G59885;RH48188;SHGC-83991 APCA;BI;CACNL1A4;CAV2.1;EA2;FHM;HPCA;MHP;MHP1;SCA6 BI;brain calcium channel 1;brain calcium channel I;calcium channel, L type, alpha-1 polypeptide;calcium channel, voltage-dependent, alpha 1a subunit;voltage-dependent P/Q-type calcium channel subunit alpha-1A;voltage-gated calcium channel subunit alpha Cav2.1 APPROVED protein-coding ENSG00000141837 1388 03004 108500;141500;183086;601011 REVIEWED 6481192 CACNA1C-AS2 CACNA1C antisense RNA 2 100874235 AC007618 APPROVED miscrna 40118 6481187 CACNA1C-AS4 CACNA1C antisense RNA 4 12 2329703 2332647 - 16344560 100874234 ABBA01048809;AC005344;AMYH01004179;BI830379;DB094045;NR_046578 Hs.372570 APPROVED miscrna ENSG00000256025 40116 VALIDATED 6480960 CACNA1C-IT1 CACNA1C intronic transcript 1 (non-protein coding) 100874368 AC005342 miscrna 41312 6480963 CACNA1C-IT2 CACNA1C intronic transcript 2 (non-protein coding) 100874369 AC005342 miscrna 41313 6480961 CACNA1C-IT3 CACNA1C intronic transcript 3 (non-protein coding) 12 2378942 2397911 + 100874370 AA421533;ABBA01048808;AC005293;AC005344;AMYH01004179;NR_046769 Hs.653548 miscrna 41314 VALIDATED 6483983 CACNA1C-AS1 CACNA1C antisense RNA 1 12 2785167 2800323 - 14702039;16344560 100652846 ABBA01048802;ABBA01048803;ABBA01048804;AC007618;AK093746;AMYH01004180;DB156888;NG_008801;NR_045725 Hs.683896 FLJ36427 APPROVED miscrna ENSG00000246627 40119 VALIDATED 1349000 CABYR calcium binding tyrosine-(Y)-phosphorylation regulated To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013] 18 18 q11.2 19972953 19995562 + 21718955 21741564 + 1580863;6480464 17317841;16139264;15752768;15489334;12509440;12477932;11820818;11730911;8125298;7849610;21240291;21274509;17207965;20379614;20954286;18421703;22285430;18029348;22990118;16344560 26256 G5E9E5;J3KRI0;J3KT09;J3KTE8;J3QLW5;J3QQK7;O75952 ABBA01022619;AC090772;AF088868;AF295037;AF295038;AF295039;AF329634;AK225858;AK301889;AK313243;AMYH01008891;AY007205;BC011996;CH471088;DB055487;HM594163;HM594164;HM594165;HM594166;HM594167;HM594168;HM594169;HQ659768;HY051562;NM_012189;NM_138643;NM_138644;NM_153768;NM_153769;NM_153770 AAC35373;AAG01891;AAG17889;AAG17890;AAG17891;AAH11996;AAL56051;ADK33596;ADK33597;ADK33598;ADK33599;ADK33600;ADK33601;ADQ32700;ADX30691;BAG36054;BAG63320;EAX01174;EAX01175;EAX01176;EAX01177;EAX01178;EAX01179;NP_036321;NP_619584;NP_619585;NP_722452;NP_722453;NP_722454;O75952 Hs.511983 1689065;1699816 RH103515;RH79977 CABYRa;CABYRc;CABYRc/d;CABYRe;CBP86;CT88;FSP-2;FSP2;MGC9117 OTTHUMP00000035470;OTTHUMP00000162776;OTTHUMP00000162777;OTTHUMP00000162778;calcium binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2);calcium-binding protein 86;calcium-binding tyrosine phosphorylation-regulated protein;calcium-binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2);cancer/testis antigen 88;fibrousheathin 2;fibrousheathin II;fibrousheathin-2;testis-specific calcium-binding protein CBP86 APPROVED protein-coding ENSG00000154040 15569 10806 612135 REVIEWED 735457 CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 3 3 p14.3 53504116 53821001 + 53529031 53846492 + 704382;1300292;1580863;2311105;6480464;6906919;6907045;6906922;7204688 12591156;10929716;16868246;18947822;16026470;21746798 11160515;19339512;19240061;19225208;19004828;18482979;17081983;16973824;16921373;15939813;14981074;11581302;11441182;11424233;11292657;11285265;10468580;8738134;7557998;1849233;1664412;1324226;1309948;1309651;17257825;19351867;19885716;20379614;20424473;21076409;20363327;21131953;21859974;21737448;21998309;21998310;21352396;21901158;17110593;23229155;23396134 776 B7Z269;F5H313;H7C4S8;Q01668;Q59GD8 AB209171;ABBA01024471;ABBA01024472;AC005905;AC012467;AC024149;AC132810;AF055575;AK294397;AK294585;AMYH01013194;AMYH01013195;AW008794;CH471055;D43747;EU363339;M76558;M83566;NG_032999;NM_000720;NM_001128839;NM_001128840 AAA35629;AAA58402;AAD08651;ABY66526;BAA07804;BAD92408;BAG57776;BAH11755;EAW65286;EAW65287;EAW65288;EAW65289;EAW65290;EAW65291;EAW65292;EAW65293;EAW65294;EAW65295;NP_000711;NP_001122311;NP_001122312;Q01668 Hs.476358 1336929;1672212;1672973;1700824;1743083;1745405;1755707;1755725;1766443;1779400;1784696;2120484;2138063;2174533;5093216;5094630;5125449;7184262;7184264 A009J32;D3S1578;D3S3101;D3S3905;G32588;GDB:251823;GDB:606284;PMC18246P1;RH104037;SHGC-142550;SHGC-142572;SHGC-149368;SHGC-149773;SHGC-153389;SHGC-30332;SHGC-32456;SHGC-77009 CACH3;CACN4;CACNL1A2;CCHL1A2;Cav1.3;SANDD OTTHUMP00000212730;OTTHUMP00000212731;OTTHUMP00000212732;OTTHUMP00000212733;calcium channel, L type, alpha-1 polypeptide, isoform 2;calcium channel, neuroendocrine/brain-type, alpha 1 subunit;voltage-dependent L-type calcium channel subunit alpha-1D;voltage-gated calcium channel alpha 1 subunit;voltage-gated calcium channel alpha subunit Cav1.3;voltage-gated calcium channel subunit alpha Cav1.3 protein-coding ENSG00000157388 1391 00247 114206;614896 REVIEWED 1605969 CACHD1 cache domain containing 1 1 1 1 p31.3 63227656 63449867 + 64709064 64931329 + 64936476 65158741 + 6480464 14702039;12477932;12421765;10997877;20379614;21139048;22268729 57685 Q5VU97 AB046793;ABBA01074559;ABBA01074560;ABBA01074561;ABBA01074562;AC099678;AK022571;AK024256;AK131297;AK299361;AL355515;AL590405;AL833000;AMYH01000681;AMYH01000682;BC039301;BX537603;CH471059;CX163220;NM_020925 AAH39301;BAB13399;BAB14105;BAB14860;BAG61356;CAD97793;CAH56312;EAX06551;NP_065976;Q5VU97 Hs.443891 1660970;1691146;1698214;1707692;1708870;1718325;1718541;1753641;1769978;1778726;1781386;1781804;2150786;2160108;2180969;5092892;5121549 A009B41;D1S3164;D1S3724;G16067;G32395;G58143;RH102643;RH122934;RH91887;SHGC-106872;SHGC-107550;SHGC-156086;SHGC-74907;SHGC-74939;SHGC-74941;SHGC-82019;SHGC-83932 KIAA1573;RP4-655E10.1 OTTHUMP00000010675;VWFA and cache domain-containing protein 1;cache domain-containing protein 1;von Willebrand factor type A and cache domain containing 1 protein-coding ENSG00000158966 29314 13874 VALIDATED 1322993 CACFD1 calcium channel flower domain containing 1 9 9 9 q34 106875680 106886533 + 135314952 135325706 + 136325087 136335909 + 6480464 16344560;16303743;15489334;15164053;14702039;12975309;12477932;18940312;19737521;21906983 11094 F6TGH8;Q9UGQ2 AA436195;ABBA01032457;AJ011373;AK074852;AK075416;AK075548;AK296343;AK298820;AK304524;AK311325;AL137319;AL593848;AMYH01021804;AMYH01021805;AY358452;BC030558;CH471090;CQ782808;CS051223;CS051397;DA699497;DB165724;NM_001135775;NM_001242369;NM_001242370;NM_017586 AAH30558;AAQ88817;BAC11245;BAC11606;BAC11691;BAH12324;BAH12877;BAH14205;CAB66156;CAF86035;CAI72107;CAI72193;EAW88089;EAW88090;NP_001129247;NP_001229298;NP_001229299;NP_060056;Q9UGQ2 Hs.62003 1673218;2112884;2216988 ADAMTS13_3006;D9S2135;STS-AA040591 C9orf7;D9S2135;FLOWER OTTHUMP00000022493;OTTHUMP00000022494;OTTHUMP00000022495;calcium channel flower domain-containing protein 1;calcium channel flower homolog APPROVED protein-coding ENSG00000160325 1365 12974 613104 VALIDATED 731992 CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit This gene encodes a member of the alpha-1 subunit family; a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been shown to cause incomplete X-linked congential stationary night blindness type 2 (CSNB2). [provided by RefSeq, Feb 2012] X X p11.23 48948467 48976777 - 49061523 49089833 - 734671;1580863;6480464;6907045;7240710;7204688 12111638;21746798 17651254;14973233;15897456;17474147;7571473;18206315;17949918;17525176;16960802;16505158;16476079;16382099;16085774;15807819;15772651;15761389;15634789;10873387;9662400;9662399;9344658;8933343;8889549;7633454;15452577;12954628;12860808;12853422;12807962;12719097;12552565;12187427;11281458;10900517;20398921;20801516;22744390;19029287;22936811;21920492;22069316;22194652;8889548;20301423;23219801;22735794 778 F5CIQ9;H7C549;O60840 AA019975;ABBA01046135;ABBA01046136;ABBA01046137;ABBA01046138;ABBA01046139;ABBA01046140;ABBA01046141;AC232271;AF067227;AF196779;AF201304;AF235097;AJ006216;AJ224874;AMYH01022294;BM931932;CH471224;JF701915;NG_009095;NM_001256789;NM_001256790;NM_005183;U93305 AAB92359;AAD03587;AAF15290;AED89557;CAA06916;CAA12175;EAW50677;EAW50678;EAW50679;EAW50680;EAW50681;EAW50682;EAW50683;NP_001243718;NP_001243719;NP_005174;O60840 Hs.632799 1298117;1298195;1338510 D2S1788;D2S405;DXS8060 AIED;COD3;COD4;CORDX;CORDX3;CSNB2;CSNB2A;CSNBX2;Cav1.4;JM8;JMC8;OA2 Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2);Cav1.4alpha1;OTTHUMP00000024299;OTTHUMP00000032032;OTTHUMP00000216983;calcium channel, voltage-dependent, alpha 1f subunit;voltage gated calcium channel alpha 1F subunit;voltage-dependent L-type calcium channel subunit alpha-1F;voltage-gated calcium channel subunit alpha Cav1.4 APPROVED protein-coding ENSG00000102001 1393 02119 300071;300110;300476;300600 REVIEWED 1347795 CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 9 9 q34 139892062 140136449 + 140772241 141019076 + 1580151;1580863;1626313;1626312;6480464;6907045;7204688 11353727;17567797;16289869;21746798 21166801;15728831;1321501;9030575;8825650;19065143;18958281;17081983;16857708;16627564;16382099;15953418;15607937;15166237;14684825;14602720;12665800;12477932;12435810;12414690;12177192;12161429;12018859;11438518;11395521;11130074;10455105;8750830;8684604;22491326;20379614;20489179;21057379;22590648;21906983;22613715;9238069 774 B1AQK4;B1AQK6;B1AQK7;E9PDR3;F6RH32;H0Y7I8;Q00975;Q5JRE4;Q9HAT3;Q9HAT6;Q9HBH2 AB209467;AF237470;AF238295;AF238296;AF245659;AF245660;AF302780;AF302782;AL591424;AL772363;AMYH01001373;AMYH01021919;AMYH01021920;AMYH01021921;AMYH01021922;AY429522;AY429523;BC033060;CH471090;CS184988;M94172;M94173;NM_000718;NM_001243812;U76666 AAA51897;AAA51898;AAC51138;AAG13642;AAG13643;AAG13644;AAG13645;AAG13646;AAG13647;AAG13648;AAG13650;AAG14396;AAG14397;AAG14398;BAD92704;CAJ41866;EAW88415;EAW88416;EAW88417;EAW88418;NP_000709;NP_001230741;Q00975 Hs.495522 1337682;1647218;1654731;1732015;1743007;1758309;1787046;1795228;1848645;2111021;2164748;5113224 A004Y39;CACNA1B_73;D9S1090;D9S2168;D9S218E;D9S325;GDB:229346;RH69203;RH79907;SHGC-148023;SHGC-153882;SHGC-32482 BIII;CACNL1A5;CACNN;Cav2.2 Cav2.2 voltage-gated Ca2+ channel;OTTHUMP00000022714;OTTHUMP00000022715;OTTHUMP00000022716;OTTHUMP00000022718;brain calcium channel III;calcium channel alpha12.2 subunit;calcium channel, L type, alpha-1 polypeptide;calcium channel, N type;calcium channel, voltage-dependent, alpha 1B subunit, N type;voltage-dependent N-type calcium channel subunit alpha-1B;voltage-gated calcium channel alpha subunit Cav2.2;voltage-gated calcium channel subunit alpha Cav2.2 APPROVED protein-coding ENSG00000148408 1389 03005 601012 REVIEWED 68993 CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008] 16 16 p13.3 1143242 1211773 + 1203241 1271772 + 1358447;1580863;6480464;6907045;7240710;7204688 12891677;21746798 10861024;9670923;19641113;19144837;19131331;18708747;18591418;18309285;18230611;18218623;17696120;17215393;17156077;17081983;16973746;16905256;16754686;16565161;16504478;16475676;16443692;16382099;16377633;16303743;16301824;16133267;15852375;15616553;15498803;14729682;14602827;14529577;12853961;12808460;11927664;11799114;11751928;11157797;10414291;9930755;9110174;8619474;14631046;21438841;21099341;15833171;19609347;19903827;19948975;20201926;19336002;22574369;21059758;21084288;20699644;19342457;23111027;21788606;22130660;22469755;22572848;20147652 8912 B3KQH9;H3BMW6;H3BNT0;H3BPX6;H3BUA8;Q9NYY5 ABBA01030324;ABBA01030325;ABBA01030326;ABBA01030327;ABBA01030328;ABBA01030329;AC120498;AE006466;AF051946;AF070604;AF073931;AF223560;AF223561;AF223562;AF223563;AJ420779;AK074965;AL031703;AL031715;AMYH01007021;AMYH01007022;AMYH01007023;AMYH01007024;AMYH01007025;AMYH01007026;AMYH01007027;AMYH01007028;BM554380;CA335096;CD243650;CH471112;DQ363526;DQ363527;DQ363528;DQ363529;NG_012647;NM_001005407;NM_021098 AAC67239;AAD17668;AAF60160;AAF60161;AAF60162;AAF60163;AAK61268;ABC88009;ABC88010;ABC88011;ABC88012;BAG52041;CAC42094;CAD12646;EAW85683;EAW85684;NP_001005407;NP_066921;O95180 Hs.459642 1795460 CACNA1H_1248 CACNA1HB;Cav3.2;ECA6;EIG6;FLJ90484 calcium channel, voltage-dependent, T type, alpha 1Hb subunit;low-voltage-activated calcium channel alpha1 3.2 subunit;low-voltage-activated calcium channel alpha13.2 subunit;voltage dependent t-type calcium channel alpha-1H subunit;voltage-dependent T-type calcium channel subunit alpha-1H;voltage-gated calcium channel alpha subunit Cav3.2;voltage-gated calcium channel alpha subunit CavT.2;voltage-gated calcium channel subunit alpha Cav3.2 APPROVED protein-coding ENSG00000196557 1395 07442 607904;611942 REVIEWED 68989 CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011] 17 17 q22 45993448 46059541 + 48638429 48704835 + 68747;68748;68746;1580863;2316207;6480464;6907045;7204688 9495342;11073957;10615950;14615287;21746798 19211869;18801335;18663132;18663131;18591418;17591929;17446221;17397049;16713569;16671074;16382099;15774856;15465033;12752779;12676336;12477932;12168954;11927664;10692398;10648811;10574461;10548410;10493502;21438841;20416077;19455149;20435690;22574369;21788606;22469755;22572848;22973059;22973060;23535033 8913 H0YAN0;I3L2W8;Q9Y5T2 AB012043;AB032949;ABBA01041240;ABBA01041241;ABBA01041242;ABBA01041243;AC004590;AC021491;AF029228;AF029229;AF124351;AF126965;AF126966;AF134985;AF134986;AF190860;AF227744;AF227745;AF227746;AF227747;AF227748;AF227749;AF227750;AF227751;AK296513;AMYH01008473;AMYH01008474;AMYH01008475;BC110995;CH471109;DQ494449;DQ494450;DQ494451;DQ494452;DQ494453;DQ494454;DQ494455;DQ494456;DQ494457;DQ494458;DQ494459;DQ494460;DQ494461;DQ494462;DQ494463;DQ494464;DQ494465;DQ494466;DQ494467;DQ494468;DQ494469;DQ494470;DQ494471;DQ494472;DQ494473;DQ494474;DQ494475;DQ494476;DQ494477;DQ494478;DQ494479;FB571393;FB571395;FB571397;FB571399;FB571401;FB571403;FB571405;FB571407;FB571409;FB571411;FB571413;FB571415;FB571417;FB571419;FB571421;NG_032024;NM_001256324;NM_001256325;NM_001256326;NM_001256327;NM_001256328;NM_001256329;NM_001256330;NM_001256331;NM_001256332;NM_001256333;NM_001256334;NM_001256359;NM_001256360;NM_001256361;NM_018896;NM_198376;NM_198377;NM_198378;NM_198379;NM_198380;NM_198382;NM_198383;NM_198384;NM_198385;NM_198386;NM_198387;NM_198388;NM_198396;NR_046054;NR_046055;NR_046056;NR_046057;NR_046058;R43876 AAD12731;AAD12732;AAD29400;AAD29401;AAD34352;AAF19346;AAF19347;AAF35287;AAF37689;AAF37690;AAF37691;AAF37692;AAF37693;AAF37694;AAF37695;AAF37696;AAI10996;ABF69900;ABF69901;ABF69902;ABF69903;ABF69904;ABF69905;ABF69906;ABF69907;ABF69908;ABF69909;ABF69910;ABF69911;ABF69912;ABF69913;ABF69914;ABF69915;ABF69916;ABF69917;ABF69918;ABF69919;ABF69920;ABF69921;ABF69922;ABF69923;ABF69924;ABF69925;ABF69926;ABF69927;ABF69928;ABF69929;ABF69930;BAA36409;BAA86437;BAG59145;CAR95114;CAR95115;CAR95116;CAR95117;CAR95118;CAR95119;CAR95120;CAR95121;CAR95122;CAR95123;CAR95124;CAR95125;CAR95126;CAR95127;CAR95128;EAW94596;EAW94597;EAW94598;EAW94599;EAW94600;EAW94601;NP_001243253;NP_001243254;NP_001243255;NP_001243256;NP_001243257;NP_001243258;NP_001243259;NP_001243260;NP_001243261;NP_001243262;NP_001243263;NP_001243288;NP_001243289;NP_001243290;NP_061496;NP_938190;NP_938191;NP_938192;NP_938193;NP_938194;NP_938196;NP_938197;NP_938198;NP_938199;NP_938200;NP_938201;NP_938202;NP_938406;O43497 Hs.591169 2128157;2169146;5095171;5114024;5491946 CACNA1G-1;CACNA1G-SNP1;D17S747;RH78047;RH93018 Ca(V)T.1;Cav3.1;MGC117234;NBR13 OTTHUMP00000221509;OTTHUMP00000221510;OTTHUMP00000221511;OTTHUMP00000221512;OTTHUMP00000221513;OTTHUMP00000221514;OTTHUMP00000221515;OTTHUMP00000221516;OTTHUMP00000221517;OTTHUMP00000221518;OTTHUMP00000221560;OTTHUMP00000221561;OTTHUMP00000221562;OTTHUMP00000221563;OTTHUMP00000221564;OTTHUMP00000221565;OTTHUMP00000221566;OTTHUMP00000221567;OTTHUMP00000221568;OTTHUMP00000221569;OTTHUMP00000221570;OTTHUMP00000221572;OTTHUMP00000221573;OTTHUMP00000221574;OTTHUMP00000221575;OTTHUMP00000221590;OTTHUMP00000221591;OTTHUMP00000221592;OTTHUMP00000221593;OTTHUMP00000221594;calcium channel, voltage-dependent, T type, alpha-1G subunit;calcium channel, voltage-dependent, alpha 1G subunit;cav3.1c;voltage-dependent T-type calcium channel subunit alpha-1G;voltage-dependent calcium channel alpha 1G subunit, isoform 11;voltage-gated calcium channel subunit alpha Cav3.1 APPROVED protein-coding ENSG00000006283 1394 04961 604065 REVIEWED 10268 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012] 12 12 p13.3 2032725 2677376 + 2162416 2807115 + 1580173;1580863;2311105;6480464;6907045;7204688;7240708;7240710 15863612;16868246;21746798;23091085 22012475;18317468;18250309;18174367;17950697;17942635;17916557;17593353;17224476;17173968;17071743;16820363;16648185;16610939;16382099;16319140;16299511;16285952;16157588;16020652;15980432;15980164;15916803;15845581;15749491;15671035;15583004;15454078;15339916;15299022;15141227;15140941;8392192;19095005;11206130;14140941;12130699;19492014;19388002;19279214;19265197;19225208;19205682;19106618;19065143;18927079;18711365;18675806;18618671;18603601;18596041;18536931;18535201;18535142;18359894;14981074;14722109;14702039;12962146;12832067;12593842;12477932;12176756;12166659;12163037;11741969;11576544;11461190;11438518;10022083;9668070;9607315;9247274;9110174;9087614;9013606;8619474;8612821;8099908;7959794;7737988;2173707;1653763;1650913;1335957;1330882;1316612;15170217;15728831;15953418;20351721;21464227;11438519;19215628;19351867;19520970;19620129;19621016;19625771;19687230;19717733;19781653;19952088;20031608;20066046;20098439;20169111;20201926;20226536;20351715;20379614;20424473;8664319;18836301;21042317;21057379;21078228;20636642;20719785;20371314;20953164;21098446;19913121;19916019;20628086;20638048;20677014;20679588;20723887;20817017;20819988;20301577;21134641;20924598;21282112;22957138;21931320;21487241;21292451;21395576;22990809;22464935;21665954;21676128;21767209;21712653;21810465;21926972;19343720;21685391;21788606;22100296;21186355;21998324;22688191;21664226;21519340;22590648;22085483;21352396;21926974;22261054;21521762;20301690;17110593;16483597;21145461;22490625;23222517;23453885;22647524;16338416;22705413 775 E9PDI6;F5GY28;F5H0X0;F5H522;F5H638;Q4VMI9 AB209016;ABBA01048802;ABBA01048803;ABBA01048804;ABBA01048805;ABBA01048806;ABBA01048807;ABBA01048808;ABBA01048809;ABBA01048810;ABBA01048811;ABBA01048812;AC005293;AC005342;AC005344;AC005414;AC005866;AC006051;AC007618;AF070589;AF465484;AJ224873;AJ536834;AJ537510;AK092125;AK302698;AK308652;AK309111;AMYH01004177;AMYH01004178;AMYH01004179;AMYH01004180;AY129012;AY562395;AY562396;AY830711;AY830712;AY830713;BC093695;BC146846;CH471116;L04568;L29529;L29534;L29536;M57971;M57972;M61130;M91370;M92269;NG_008801;NM_000719;NM_001129827;NM_001129829;NM_001129830;NM_001129831;NM_001129832;NM_001129833;NM_001129834;NM_001129835;NM_001129836;NM_001129837;NM_001129838;NM_001129839;NM_001129840;NM_001129841;NM_001129842;NM_001129843;NM_001129844;NM_001129846;NM_001167623;NM_001167624;NM_001167625;NM_199460;Z26257;Z26294;Z26295;Z26308;Z34809;Z34810;Z34811;Z34812;Z34813;Z34814;Z34815;Z34816;Z34817;Z34818;Z34819;Z34820;Z34821;Z34822;Z74996 AAA02500;AAA17030;AAA51899;AAA51900;AAA51901;AAA58409;AAA62832;AAA74590;AAB59461;AAC28649;AAH93695;AAI46847;AAM70049;AAM98755;AAT67986;AAT67987;AAX37354;AAX37355;AAX37356;BAD92253;BAH13781;CAA12174;CAA81218;CAA81219;CAA84340;CAA84341;CAA84342;CAA84343;CAA84344;CAA84345;CAA84346;CAA84347;CAA84348;CAA84349;CAA84350;CAA84351;CAA84352;CAA84353;CAA99284;CAD61168;CAD61169;EAW88895;EAW88896;EAW88897;EAW88898;EAW88899;EAW88900;EAW88901;EAW88902;EAW88903;EAW88904;EAW88905;EAW88906;EAW88907;EAW88908;EAW88909;EAW88910;NP_000710;NP_001123299;NP_001123301;NP_001123302;NP_001123303;NP_001123304;NP_001123305;NP_001123306;NP_001123307;NP_001123308;NP_001123309;NP_001123310;NP_001123311;NP_001123312;NP_001123313;NP_001123314;NP_001123315;NP_001123316;NP_001123318;NP_001161095;NP_001161096;NP_001161097;NP_955630;Q13936 Hs.118262 1334589;1337399;1340038;1341339;1654910;1659697;1661476;1665757;1669620;1671597;1683014;1684056;1693864;1693866;1693868;1693870;1693872;1698220;1705432;1724607;1731847;1734010;1734014;1742899;1748497;1752493;1754557;1759175;1759493;1766823;1770738;1772105;1778617;1852594;2116259;2117757;2118412;2124175;2132832;2132834;2146373;2153856;2154442;2155803;2155978;2156996;2161177;2177027;2177105;5016899;5491314;5493349;7185055;7185413;7187837 A001U36;AF045313;D12S100;D12S1076;D12S1092;D12S1094;D12S1096;D12S1108;D12S1113;D12S1116;D12S1117;D12S1392E;D12S1443;D12S1615;D12S1689;D12S1694;D12S2044;D12S2049;D12S2051;D12S381E;G17659;G19668;G30965;G41239;G42621;G42623;G42624;G42625;G42626;GDB:214834;RH102646;RH121301;RH25054;RH27134;RH44512;RH44799;RH48669;RH78411;RH93423;SHGC-106399;SHGC-132840;SHGC-150871;SHGC-151138;SHGC-152191;SHGC-30605;SHGC-37464;SHGC-57441;SHGC-6998;SHGC-83797;STS-H29303;UniSTS:485794;WI-18742;WI-3910 CACH2;CACN2;CACNL1A1;CCHL1A1;CaV1.2;LQT8;MGC120730;TS DHPR, alpha-1 subunit;OTTHUMP00000196730;OTTHUMP00000196731;OTTHUMP00000196732;OTTHUMP00000196733;OTTHUMP00000196734;OTTHUMP00000196735;OTTHUMP00000196736;OTTHUMP00000196737;OTTHUMP00000196738;OTTHUMP00000196739;OTTHUMP00000196740;OTTHUMP00000196741;OTTHUMP00000196742;OTTHUMP00000196743;OTTHUMP00000196744;OTTHUMP00000196746;OTTHUMP00000196747;OTTHUMP00000196748;OTTHUMP00000196749;OTTHUMP00000196750;OTTHUMP00000196751;OTTHUMP00000238277;OTTHUMP00000238278;OTTHUMP00000238479;calcium channel, L type, alpha 1 polypeptide, isoform 1, cardic muscle;calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle;calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit;calcium channel, voltage-dependent, alpha 1c subunit;voltage-dependent L-type calcium channel subunit alpha-1C;voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10*;voltage-gated calcium channel alpha subunit Cav1.2;voltage-gated calcium channel subunit alpha Cav1.2 APPROVED protein-coding 1390 00246 114205;601005;611875 REVIEWED 6770493 CACNA1G-AS1 CACNA1G antisense RNA 1 17 q21.33 48633568 48639469 - 12477932;8889548 253962 ABBA01041240;AC021491;AMYH01008473;BC041476;BU742796;H13333;NG_032024;NR_038439 Hs.558704 2145484 WI-22304 APPROVED miscrna ENSG00000250107 27377 VALIDATED 736857 CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008] 1 1 q32 199275263 199348317 - 201008640 201081694 - 1300372;1300373;1580863;6480464;6907045;7240710;7204688 7847370;9199552;21746798 9852570;17418573;11206130;17204937;19191329;19187971;19118277;18229654;17587224;16382099;15726306;15716625;15711422;15072700;14660679;12636044;12496092;9668070;9175745;8838325;8592342;8188298;8118099;8004673;7987325;7916735;7897626;7713519;3037387;2844809;1322891;22140091;12477932;19134469;19779499;19825159;20379614;20424473;20301512;20861472;21248738;22863883;20618440;21931568;21841462;21262876;21774221;20301325;21855088;21845430;22927026 779 B1ALM3;Q13698 ABBA01027535;ABBA01027536;ABBA01027537;AL139159;AL358473;AMYH01001640;BC133671;CH471067;L33798;NG_009816;NM_000069;U09784;U14413;U18986;U30707 AAA20531;AAA51902;AAB37235;AAC50397;AAC50398;AAI33672;EAW91333;EAW91334;EAW91335;NP_000060;Q13698 Hs.1294 1692468;1742327;1743783;1765531;1797342;2116210;2131635;2154837;2157615;2182480;5491870 AL033885;CACNA1S;CACNA1S_2396;D1S3520;G09493;GDB:196341;GDB:373596;RH71040;SHGC-149005;SHGC-76114;SHGC-76141 CACNL1A3;CCHL1A3;Cav1.1;HOKPP;HOKPP1;MHS5;TTPP1;hypoPP OTTHUMP00000033931;OTTHUMP00000033932;calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis);calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle;dihydropyridine receptor;dihydropyridine-sensitive L-type calcium channel alpha-1 subunit;voltage-dependent L-type calcium channel subunit alpha-1S;voltage-gated calcium channel subunit alpha Cav1.1 APPROVED protein-coding ENSG00000081248 1397 00248 114208;170400;188580;601887 REVIEWED 733702 CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011] 1 1 q25.3 179719339 180037339 + 181452686 181775920 + 1299845;734670;1580863;6480464;6907045;7204688 8388125;11735114;21746798 8071363;8825650;18676988;18037383;17934712;17727731;17720895;17660294;17189400;17050807;16855219;16382099;15845089;15258581;14702039;12706458;12401453;12202369;11903132;11719851;11179973;11159396;9799129;9776767;9753159;9656471;8358434;7536609;9238069;16543726;20379614;20424473;20026913;12477932;15342556;21482359;22633975;21691059;22178872;21906983;22427875;23382691;22846999 777 E9PIE8;F8W760;F8W8A2;F8W9Z1;J3KP11;Q15878;Q59FG1 AA349993;AB209499;ABBA01027775;ABBA01027776;ABBA01027777;ABBA01027778;AF152379;AF223391;AJ276502;AK096563;AK309070;AL160059;AL161734;AL356500;AL359270;AL590998;AMYH01001545;AMYH01001546;AMYH01001547;AW452628;BC037800;BE504178;BI914369;BP230397;CD580303;CH471067;L27745;L29384;L29385;NM_000721;NM_001205293;NM_001205294;R11722 AAA59204;AAA59205;AAA72125;AAD38389;AAF37687;AAF37688;AAI72376;BAD92736;CAB81554;EAW91103;EAW91104;EAW91105;EAW91106;EAW91107;EAW91108;EAW91109;EAW91110;NP_000712;NP_001192222;NP_001192223;Q15878 Hs.437444 1683785;1694742;1713093;1728929;1778212;1781674;1846801;2142988;2150288;2158257;2168216 Cacna1e;G19134;G43571;HSC1IC052;RH120334;RH71450;RH80638;SHGC-154997;SHGC-75979;SHGC-76011;SHGC-76012 BII;CACH6;CACNL1A6;Cav2.3 OTTHUMP00000035416;OTTHUMP00000035417;OTTHUMP00000035418;OTTHUMP00000235985;brain calcium channel II;calcium channel, L type, alpha-1 polypeptide, isoform 6;calcium channel, R type, alpha-1 polypeptide, isoform 6;calcium channel, voltage-dependent, alpha 1E subunit;calcium channel, voltage-dependent, l type, alpha 1e subunit;voltage-dependent R-type calcium channel subunit alpha-1E;voltage-dependent calcium channel alpha 1E subunit;voltage-gated calcium channel alpha 1E subunit;voltage-gated calcium channel alpha subunit Cav2.3;voltage-gated calcium channel subunit alpha Cav2.3 APPROVED protein-coding ENSG00000198216 1392 03006 601013 REVIEWED 68996 CACNA1I calcium channel, voltage-dependent, T type, alpha 1I subunit This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] 22 22 q13.1 38296704 38415686 + 39966758 40085740 + 1580863;6480464;6907045;7204688 21746798 16740636;10454147;18591418;17535809;16939858;16382099;15254077;12477932;12080115;11927664;10749850;10591208;10574461;22883433;15174051;23382691 8911 A8MPS3;F8WDE5;Q9NZC8 AB032946;ABBA01055578;ABBA01055579;ABBA01055580;ABBA01055581;ABBA01055582;ABBA01055583;AF129133;AF142567;AF211189;AF393329;AL008716;AL022312;AL022319;AMYH01012780;AMYH01012781;BC042972;CH471095;N52765;NM_001003406;NM_021096 AAD45251;AAF25722;AAF44626;AAM67414;BAA86434;EAW60345;EAW60346;EAW60347;EAW60348;EAW60349;EAW60350;EAW60351;NP_001003406;NP_066919;Q9P0X4 Hs.125116 1684445;1711494;1733238;1747503;1747505;2148448;2149341;5021978 D22S578;D22S645;G10206;G49248;G65375;G65376;RH75338;contig_249751 Cav3.3;KIAA1120;ca(v)3.3 OTTHUMP00000199122;OTTHUMP00000199123;OTTHUMP00000199124;OTTHUMP00000199125;ca(v)3.3;calcium channel, voltage-dependent, alpha 1I subunit;voltage-dependent T-type calcium channel subunit alpha-1I;voltage-gated calcium channel subunit alpha Cav3.3 APPROVED protein-coding ENSG00000100346 1396 10500 608230 REVIEWED 6481194 CACNA2D3-AS1 CACNA2D3 antisense RNA 1 3 54908632 54935282 - 14702039 100874237 ABBA01024460;ABBA01024461;AC109584;AK092143;AMYH01013199;NR_046666 Hs.570583 FLJ34824 APPROVED miscrna ENSG00000243715 40702 PREDICTED 731942 CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 7 7 q21-q22 81417354 81910967 - 81579418 82073031 - 1580863;6480464;6907045 11160515;19240061;19106618;19001023;17438119;17224476;16335952;14602720;12853948;12477932;10534405;9847074;8188232;8107964;7951247;2458626;1309651;20889312;20379614;20708005;20817017;20579869;21464332;20360068;21383000;22939629;23006423;23251661 781 B7Z658;E7ERK3;H0Y715;P54289 AACC02000015;ABBA01058068;ABBA01058069;ABBA01058070;ABBA01058071;ABBA01058072;ABBA01058073;ABBA01058074;ABBA01058075;ABBA01058076;ABBA01058077;AC004892;AC004970;AC004989;AC005159;AC006145;AC008283;AF083854;AK299838;AL707206;AMYH01017648;AMYH01017649;AMYH01017650;BC051339;BC117468;BC117470;BG055272;BI545104;BU501177;CH236949;CH471091;M76559;NG_009358;NM_000722;Z28599 AAA51903;AAC78619;AAD20938;AAD51454;AAF03259;AAF19234;AAI17469;AAI17471;BAH13144;EAW76990;NP_000713;P54289 Hs.282151 1341053;1648249;1673622;1696796;1696808;1708108;1713441;1720267;1750365;1752897;2106967;2116140;2139677;2140878;2146283;2172465 CACNA2D1__2648;CACNL2A;D7S1435;D7S1507;D7S1996;G49141;G49147;GDB:1318495;RH119578;RH123882;RH17738;SHGC-106835;SHGC-112539;SHGC-81452;UD2;WI-7124 CACNA2;CACNL2A;CCHL2A OTTHUMP00000161364;calcium channel, L type, alpha 2 polypeptide;calcium channel, voltage-dependent, alpha2/delta subunit 1;dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunit;voltage-dependent calcium channel subunit alpha-2/delta-1;voltage-gated calcium channel subunit alpha-2/delta-1 APPROVED protein-coding ENSG00000153956 1399 00245 114204 REVIEWED 1349571 CACNA2D3 calcium channel, voltage-dependent, alpha 2/delta subunit 3 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 3 3 3 p21.1 54123406 55075102 + 54131733 55083624 + 54156693 55108584 + 1580863;6480464;6907045 22542470;19240061;18588891;18519826;17937436;12477932;20889312;12181424;11329013;11245980;10737800;21074052;20379614;22395973;22644305 55799 B4DSF6;C9JAV5;F8WAV4;Q8IZS8 ABBA01024457;ABBA01024458;ABBA01024459;ABBA01024460;ABBA01024461;ABBA01024462;ABBA01024463;ABBA01024464;ABBA01024465;ABBA01024466;AC092057;AC092797;AC104298;AC109581;AC109584;AC115282;AC133010;AC137673;AC138059;AF516696;AJ272213;AJ272268;AK299718;AK307449;AMYH01013197;AMYH01013198;AMYH01013199;AMYH01013200;AW905454;BC137502;BC137505;BE702896;BE768691;BG206136;BG213431;BI753834;CH471055;NM_018398 AAI37503;AAI37506;AAN06673;BAG61618;CAB75878;CAB75962;EAW65303;EAW65304;NP_060868;Q8IZS8 Hs.656687 1336638;1337433;1340199;1340468;1340768;1340899;1341411;1650001;1664899;1670484;1672915;1677446;1699166;1701028;1706170;1716035;1718179;1718327;1723219;1729978;1730081;1731299;1731855;1751447;1751809;1752059;1759701;1759723;1762931;1763441;1766515;1784588;1784594;1784782;1784818;2110465;2120416;2124649;2131348;2143540;2159403;2160142;2185520;5093292;7185554;7187578 A009K48;AFMA048XB9;D3S1236;D3S1241;D3S1289;D3S1447;D3S1582;D3S1613;D3S2567E;D3S3080;D3S3660;D3S3666;D3S3672;D3S4050;D3S4145;D3S717;G16563;G32633;HT017__7511;RH103162;RH104141;RH120956;RH122293;RH122858;RH122935;RH26835;RH65515;RH78885;SHGC-105280;SHGC-105801;SHGC-106008;SHGC-111457;SHGC-111488;SHGC-146684;SHGC-147153;SHGC-149832;SHGC-150991;SHGC-150992;SHGC-155025;SHGC-155305;SHGC-77015;SHGC-80609;STS-AA101173;WI-21592 HSA272268 OTTHUMP00000213118;OTTHUMP00000213119;calcium channel alpha2-delta3 subunit;calcium channel, voltage-dependent, alpha 2/delta 3 subunit;voltage-dependent calcium channel subunit alpha-2/delta-3;voltage-gated calcium channel subunit alpha-2/delta-3 APPROVED protein-coding ENSG00000157445 15460 05907 606399 REVIEWED 737609 CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 3 3 p21.3 50375234 50515896 - 50400230 50540892 - 1580863;6480464;6907045 17135419;15331424;12555074;11851383;11292331;11085536;10766861;10762351;9628581;21809394;12477932;16344560;21906983;23402298 9254 C9JE82;C9JGM2;C9JHE6;C9JVC9;Q9NY47 AB011130;ABBA01024546;ABBA01024547;ABBA01024548;ABBA01024549;AF040709;AF042792;AF042793;AJ251367;AJ251368;AK074820;AK310138;AL450422;AMYH01013171;AMYH01013172;AMYH01013173;AMYH01013174;AW451435;AW952467;BC152438;CH471055;DA760583;NM_001005505;NM_001174051;NM_006030;Z75742;Z75743;Z84492;Z84494;Z84495 AAB96913;AAB96914;AAC70914;AAI52439;BAA25484;CAB86192;CAB86193;EAW65118;EAW65119;EAW65120;EAW65121;NP_001005505;NP_001167522;NP_006021;Q9NY47 Hs.476273;Hs.674666 1338000;1682792;1793458;1793460;1793462;1793464;1793466;1793500;1793502;1795462;2174251;2179573;7185404 A006W17;CACNA2D2_1675;D3S1568;PMC22669P10;PMC22669P11;PMC22669P12;PMC22669P13;PMC22669P14;PMC22669P8;PMC22669P9;RH47509;RH80071 CACNA2D;KIAA0558;LUAC11.1 OTTHUMP00000210930;OTTHUMP00000210931;OTTHUMP00000210932;OTTHUMP00000210933;OTTHUMP00000212538;OTTHUMP00000212539;alpha 2 delta calcium channel subunit;calcium channel, voltage dependent, alpha2/delta subunit 2;gene 26;voltage-dependent calcium channel subunit alpha-2/delta-2;voltage-gated calcium channel subunit alpha-2/delta-2 APPROVED protein-coding ENSG00000007402 1400 06154 607082 REVIEWED 1346782 CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 12 12 12 p13.33 3508846 3635489 - 1771384 1898131 - 1901123 2027870 - 1580863;6480464;6907045;7240710 17033974;12477932;12181424;20379614;22488967 93589 B4DVU4;E7EUE0;K7EIY9;K7EJY1;K7ER25;K7ER98;Q7Z3S7 AA001411;ABBA01048814;ABBA01048815;ABBA01048816;ABBA01048817;AC005342;AC005343;AF516695;AI160471;AK301234;AL137658;AMYH01004176;BC048288;BC150186;BI908421;BX457018;BX537436;BX537437;CA443847;CH471116;NG_012663;NM_172364 AAH48288;AAI50187;AAN06672;ACE86813;ACE87500;BAG62806;CAD97678;CAD97679;EAW88918;EAW88919;EAW88920;NP_758952;Q7Z3S7 Hs.13768 1693860;1756447;2120191;2175247;2181730;2217096 CACNA2D4_497;G09509;G42619;RH11342;SHGC-143451;SHGC-53029 RCD4 OTTHUMP00000237961;OTTHUMP00000237964;voltage-dependent calcium channel subunit alpha-2/delta-4;voltage-gated calcium channel alpha(2)delta-4 subunit;voltage-gated calcium channel subunit alpha-2/delta-4 APPROVED protein-coding ENSG00000151062 20202 12182 608171;610478 REVIEWED 68552 CACNB1 calcium channel, voltage-dependent, beta 1 subunit The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 17 17 q21-q22 34583235 34607427 - 37329709 37353956 - 734675;1580863;6480464;6907045;7204688 8395940;21746798 1385409;17081983;16713569;14762176;14760703;14623965;12477932;10624822;10465427;10066897;8943043;8905728;8381767;7916667;1657644;1370480;1309651;19821165;21098446;15342556;21832049;19953087;21906983;23382691 782 Q02641 AA694045;AB054985;AB209176;ABBA01031881;ABBA01031882;ABBA01031883;AC004408;AK127283;AK289729;AK297643;AK300666;AK312385;AMYH01008374;AY393857;BC037311;BP217857;CH471152;L06110;L06111;L06112;M76560;M92301;M92302;M92303;NM_000723;NM_199247;NM_199248;U86960;Z21725;Z21726 AAA35631;AAA35632;AAA35633;AAA36167;AAA36168;AAA36169;AAA51894;AAB58779;AAB58780;AAB58781;AAH37311;AAQ97605;ABM82614;ABW03409;BAB21444;BAD92413;BAF82418;BAG54473;BAH12640;BAH13323;CAA79824;CAA79825;EAW60556;EAW60557;EAW60558;EAW60559;EAW60560;EAW60561;EAW60562;EAW60563;EAW60564;NP_000714;NP_954855;NP_954856;Q02641 Hs.635 1739465;1777354;2117361;2157438;5017975;5018097 CACNB1;D17S1655;G73122;RH12690;RH71354;WI-7808 CAB1;CACNLB1;CCHLB1;MGC41896 OTTHUMP00000164286;OTTHUMP00000164287;calcium channel voltage-dependent subunit beta 1;calcium channel, L type, beta 1 polypeptide;dihydropyridine-sensitive L-type, calcium channel beta-1 subunit;voltage-dependent L-type calcium channel subunit beta-1 APPROVED protein-coding ENSG00000067191 1401 11743 114207 REVIEWED 732576 CACNB2 calcium channel, voltage-dependent, beta 2 subunit This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013] 10 10 p12 18469612 18870694 + 18429606 18830688 + 734673;6480464;6907045;7240710;7204688;7240708 9254841;21746798;23091085 8494331;9594024;19430479;19241460;19106618;18676988;18519826;18464913;17224476;16344560;15339916;14762176;14702039;14623965;12719232;12042350;10623591;10567342;10465427;10441130;10066897;9757060;9461395;9252229;8889549;8395157;8107964;1309651;12477932;16385451;17525370;19197348;19358333;20201926;20379614;20386566;20414254;20479155;20025708;20677014;20817017;21045733;21156931;21963141;22090166;21909110;21909115;20301690;23251661;23319000;23453885 783 A6PVM6;AAB27916;Q59H42;Q5QJ99;Q5VVH1;Q6TME3;Q9Y341 AB208917;ABBA01034537;ABBA01034538;ABBA01034539;ABBA01034540;ABBA01034541;ABBA01034542;AF137376;AF137377;AF285239;AF423189;AF423190;AF423191;AF423192;AF465485;AK021994;AK022426;AK128769;AK293837;AK293937;AK295113;AK296471;AK299873;AK307526;AK307800;AK310943;AK311694;AL119895;AL139814;AL162054;AL353603;AL360231;AL390783;AL450364;AL450384;AL599294;AL600557;AMYH01002154;AY027898;AY393858;AY393859;AY393860;AY393861;AY393862;AY393863;AY675091;AY675092;BC136409;BM312516;CH471072;DB235418;DC307859;DC352526;NG_016195;NM_000724;NM_001167945;NM_201570;NM_201571;NM_201572;NM_201590;NM_201593;NM_201596;NM_201597;S60415;U95019 AAB27916;AAB51370;AAB53332;AAD33729;AAD33730;AAG01473;AAI36410;AAK16994;AAL16948;AAL16949;AAL16950;AAL16951;AAL73495;AAQ97606;AAQ97607;AAQ97608;AAQ97609;AAQ97610;AAQ97611;AAV49501;AAV49502;BAD92154;BAH11608;BAH11631;BAH11979;BAH12366;BAH13158;EAW86193;EAW86194;EAW86195;EAW86196;EAW86197;NP_000715;NP_001161417;NP_963864;NP_963865;NP_963866;NP_963884;NP_963887;NP_963890;NP_963891;Q08289 Hs.59093 1339504;1650522;1656293;1668547;1700486;1709914;1713267;1740853;1768487;1782030;1782092;2123681;2155677;2166623;2174633;5016851;5017266;5020948;5109281;7184452;7187966 A008O21;D10S2318;D10S2356;D10S548;D1S1425;G15938;G35510;L18506;RH103864;RH120624;RH17936;RH44603;RH80031;SHGC-149805;SHGC-154459;SHGC-30313;SHGC-35043;SHGC-84814;STS-S60415 CACNLB2;CAVB2;FLJ23743;MYSB CAB2;OTTHUMP00000019254;OTTHUMP00000019255;OTTHUMP00000019256;OTTHUMP00000019257;OTTHUMP00000019258;OTTHUMP00000196783;OTTHUMP00000196784;OTTHUMP00000196786;calcium channel voltage-dependent subunit beta 2;lambert-Eaton myasthenic syndrome antigen B;myasthenic (Lambert-Eaton) syndrome antigen B;voltage-dependent L-type calcium channel subunit beta-2 APPROVED protein-coding ENSG00000165995 1402 02473 600003;611876 REVIEWED 735859 CACNB3 calcium channel, voltage-dependent, beta 3 subunit This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011] 12 12 q13 47498779 47508991 + 49208215 49222726 + 1580863;6480464;6907045;7204688 21746798 11160515;8825650;16525042;15489334;15170217;14702039;12477932;12181424;8621722;8617257;8494331;8119293;7557998;19807924;19917615;15028279;16344560;21926972 784 F8VNV8;F8VU10;F8VUW8;F8VV14;F8VWK1;F8W0F8;F8W1N3;H0YHK1;H0YHY2;Q13913 ABBA01031488;AC117498;AK122911;AK289709;AK297639;AK300901;AK304537;AK316323;AL534844;AL537072;AL702978;AMYH01004435;BC041811;BI667991;CD013906;CH471111;D43704;DB277524;L27584;NG_030048;NM_000725;NM_001206915;NM_001206916;NM_001206917;U07139;X76555;X76556 AAA19799;AAA95958;AAH41811;BAA07803;BAF82398;BAH12637;BAH13371;BAH14209;BAH14694;CAA54055;CAA54056;EAW58008;EAW58009;NP_000716;NP_001193844;NP_001193845;NP_001193846;P54284 Hs.250712;Hs.737291 1770419;1770648;1795464;2146421;5492080 CACNB3_499;D12S2032;IB1472;MARC_42832-42833:1097693526:1;WI-18779 CAB3;CACNLB3;FLJ58949 CAB3;OTTHUMP00000243673;OTTHUMP00000243674;OTTHUMP00000243678;OTTHUMP00000243679;OTTHUMP00000243681;calcium channel voltage-dependent subunit beta 3;voltage-dependent L-type calcium channel subunit beta-3 APPROVED protein-coding ENSG00000167535 1403 11879 601958 REVIEWED 68558 CACNB4 calcium channel, voltage-dependent, beta 4 subunit This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 2 2 q22-q23 152402382 152663790 - 152689285 152955593 - 734674;1580863;6480464;6907045;7240710;7204688 10762541;21746798 16525042;11880487;8825650;16385006;18755274;18712068;18446307;17618603;16866717;16344560;15489334;15342556;15170217;14623965;12477932;10212211;9757060;9628818;9530629;9442082;9254841;9254840;9252229;16169070;19807924;20200978;21297076;21220418;22892567 785 C9J224;E7EN11;F8WA06;H0Y476;O00305 AB302276;ABBA01004782;ABBA01004783;ABBA01004784;ABBA01004785;ABBA01004786;AC068547;AC079790;AC097448;AF038852;AF075047;AF216867;AK290049;AK291378;AK294398;AK316045;AL700210;AMYH01011178;AMYH01011179;AY054985;BC075049;BP229182;BP360802;BX279713;BX484858;BX648679;CH471058;DA782833;HQ214056;NG_012641;NM_000726;NM_001005746;NM_001005747;NM_001145798;T23939;U95020 AAB53333;AAC24206;AAF61674;AAH75049;AAL14351;AAX82014;AAY14711;AAY14759;ADP09414;BAF73808;BAF82738;BAF84067;BAG57651;BAH14416;EAX11493;EAX11494;NP_000717;NP_001005746;NP_001005747;NP_001139270;O00305 Hs.120725 1339368;1707734;1734974;1756393;1765687;1774475;1779190;1784234;1784238;1854083;2217098 CACNB4_2927;D2S1720E;D2S1751;D2S2236;SHGC-143363;SHGC-149129;SHGC-152741;SHGC-156047;SHGC-156071;SHGC-82083;WI-15038 CAB4;CACNLB4;EA5;EIG9;EJM;EJM4;EJM6 OTTHUMP00000207228;OTTHUMP00000207246;OTTHUMP00000207247;OTTHUMP00000207248;OTTHUMP00000207249;OTTHUMP00000209460;calcium channel voltage-dependent subunit beta 4;dihydropyridine-sensitive L-type, calcium channel beta-4 subunit;voltage-dependent L-type calcium channel subunit beta-4 APPROVED protein-coding ENSG00000182389 1404 09057 601949;607682;613855 REVIEWED 732630 CACNG1 calcium channel, voltage-dependent, gamma subunit 1 Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010] 17 17 17 q24 61613382 61625583 + 62471168 62483375 + 65040652 65052913 + 734675;1580863;6480464;6907045 8395940 8387489;15489334;12477932;11738816;11170751;10613843;8404045;16344560;17652770;8111396;9186513 786 Q06432 ABBA01029014;AC005544;AF086300;AK313852;AMYH01008583;BC069493;BC113486;BC113492;CH471099;DA898357;L07738;NM_000727;Z19587;Z19603 AAA51904;AAH69493;AAI13487;AAI13493;ADR83392;BAG36580;CAA79671;CAB62573;EAW89022;NP_000718;Q06432 Hs.147989 1743011;1743027;1797344;2155864;2163205 CACNG1__2503;GDB:235907;GDB:250204;RH17604;SHGC-12505 CACNLG L-type calcium channel gamma polypeptide;dihydropyridine-sensitive L-type skeletal muscle calcium channel gamma subunit;dihydropyridine-sensitive L-type, skeletal muscle calcium channel subunit gamma;neuronal dihydropyridine-sensitive calcium channel gamma subunit;voltage-dependent calcium channel gamma-1 subunit APPROVED protein-coding ENSG00000108878 1405 00249 114209 REVIEWED 731676 CACNG2 calcium channel, voltage-dependent, gamma subunit 2 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010] 22 22 q13.1 35290050 35428849 - 36956916 37098690 - 1580863;6480464;6907045;7240704 22334212 10221464;19543281;19156168;18571626;18408563;17483093;16793768;16637659;15758178;15567474;15489334;15461802;15001777;14505496;12477932;12359873;11805122;11170751;11140673;10643919;10591208;18311135;19805317;20688780;14702039;16434481;17652770;18304745;20219255;21832049;23166629 10369 Q9Y698 ABBA01055449;ABBA01055450;AF096322;AK123431;AL022313;AL031845;AL049749;AMYH01012753;BC069612;BC112297;BC112299;BE670632;BI919073;CH471095;CR456414;NG_031861;NM_006078;Z70289 AAD22738;AAH69612;AAI12298;AAI12300;ADR82940;CAG30300;CAK54405;CAK54704;EAW60113;NP_006069;Q9Y698 Hs.146766 1340423;1694958;1733236;2140951;2152426;2184624;7183698;7187005 D22S1258;D22S426;D22S573;D22S619;D6S1611;G44389;RH45498 FLJ41437;MGC138502;MGC138504;MRD10 OTTHUMP00000028790;TARP gamma-2;neuronal voltage-gated calcium channel gamma-2 subunit;stargazin;transmembrane AMPAR regulatory protein gamma-2;voltage-dependent calcium channel gamma-2 subunit APPROVED protein-coding 1406 04220 602911;614256 REVIEWED 736548 CACNG3 calcium channel, voltage-dependent, gamma subunit 3 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010] 16 16 16 p12.1 23044814 23151626 + 24174377 24281238 + 24266874 24373737 + 1300374;1580863;6480464;6907045 10613843 10221464;17264864;15489334;14702039;14505496;12477932;11170751;10493829;21169531;17207965;17652770;18304745;20219255;14572453;21832049 10368 O60359 ABBA01017085;ABBA01017086;ABBA01017087;AC004125;AF100346;AF114832;AF134640;AK055453;AK095553;AK315150;AMYH01007390;BC033741;BC037899;BC040005;CH471145;H04803;NM_006539 AAC15246;AAD22739;AAF42975;AAH37899;AAH40005;AAP97231;ADQ32452;BAG37598;BAG51520;BAG53082;EAW55793;EAW55794;NP_006530;O60359 Hs.7235 1334547;1664447;1756945;1790219;2218744 CACNG3_4051;D16S672;SHGC-144113;SHGC-60568;URB036 Cacng2 OTTHUMP00000162423;TARP gamma-3;neuronal voltage-gated calcium channel gamma-3 subunit;transmembrane AMPAR regulatory protein gamma-3;voltage-dependent calcium channel gamma-3 subunit;voltage-gated calcium channel gamma subunit APPROVED protein-coding ENSG00000006116 1407 05910 606403 REVIEWED 735495 CACNG4 calcium channel, voltage-dependent, gamma subunit 4 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010] 17 17 17 q24 61533692 61602193 + 62391475 62459980 + 64960980 65029518 + 1300374;1580863;6480464;6907045 10613843 15489334;14702039;14505496;12477932;11738816;11170751;19913121;20628086;17652770;18304745;20378664;22779921 27092 Q8TCR4;Q9UBN1 ABBA01029014;AC005544;AC005988;AF142622;AF142623;AF142624;AF142625;AF162692;AK055232;AK315149;AL526464;AL713655;AL831834;AMYH01008583;BC004504;BC032765;BC034532;BF508806;CH471099;NM_014405 AAF03090;AAF14538;AAH34532;ABM82741;ABM85926;BAG37597;CAD28464;EAW89020;EAW89021;NP_055220;Q9UBN1 Hs.514423 1678553;1707640;1795466;1854946;2144924;2180688 CACNG4_503;D20S801;G17986;RH93006;SHGC-17632;SHGC-81981 MGC11138;MGC24983 TARP gamma-4;neuronal voltage-gated calcium channel gamma-4 subunit;transmembrane AMPAR regulatory protein gamma-4;voltage-dependent calcium channel gamma-4 subunit APPROVED protein-coding ENSG00000075461 1408 05911 606404 REVIEWED 1347642 CACTIN-AS1 CACTIN antisense RNA 1 19 19 19 p13.3 3547476 3553529 + 3561626 3563908 + 3607245 3613928 + 14702039;23251661 404665 Q8N1I8 ABBA01002835;AC005175;AK097999;AMYH01009314;AMYH01009315;NR_038865 Q8N1I8 Hs.719726 2132848;2132850 A005X06;G20563 C19orf29-AS1;C19orf29OS APPROVED miscrna ENSG00000226800 31391 VALIDATED 732322 CACNG8 calcium channel, voltage-dependent, gamma subunit 8 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010] 19 19 19 q13.4 51505965 51525810 + 59158106 59177951 + 54466290 54493469 + 1580863;6480464;6907045 11170751;11738816;14702039;17652770;18304745;18311135 59283 Q8WXS5 ABBA01068181;ABBA01068182;AC008440;AF234892;AF288388;AF361354;AK055160;AK131287;AMYH01009973;AMYH01009974;AMYH01009975;CH471135;NM_031895 AAI57120;AAI72268;AAK15019;AAK20031;AAL50049;EAW72168;NP_114101;Q8WXS5 Hs.631595 1336954;1800612;1801818;1808172;1812292;1814682;1818574;1825130;1832070;1833750;1836230;1837400;1837604;1838530;1838746;1843590;1843644;1843912;1844586;2103390;2103392;2103394;2103396;2103398;2103400;2103402;2103404;2103406;2103408;2103410;2103412;2103414;2103416;2131215;5015881;5016596;5016851;5022578;5037552;5037554;5117897 D1S1423;D6S1576;D8S2279;D8S2282;ECD01167;ECD01790;ECD05067;ECD07153;ECD08371;ECD10349;ECD13666;ECD17173;ECD18020;ECD19276;ECD19867;ECD19969;ECD20439;ECD20551;ECD23005;ECD23033;ECD23167;ECD23507;GDB:335751;GDB:631802;GDB:631813;RH80031;WI-22592;stSG605682;stSG605683;stSG605684;stSG605685;stSG605686;stSG605687;stSG605688;stSG605689;stSG605690;stSG605691;stSG605695;stSG605696;stSG605697;stSG605698 FLJ16240;FLJ30598 OTTHUMP00000067377;TARP gamma-8;neuronal voltage-gated calcium channel gamma-8 subunit;transmembrane AMPAR regulatory protein gamma-8;voltage-dependent calcium channel gamma-8 subunit APPROVED protein-coding ENSG00000142408 13628 06063 606900 REVIEWED 7241100 CACYBPP1 calcyclin binding protein pseudogene 1 10 86214445 86215808 - 100420043 ABBA01003755;AC074321;AMYH01002892;NG_025452 pseudo 45122 INFERRED 7240978 CACYBPP2 calcyclin binding protein pseudogene 2 22118674 644877 ABBA01062316;AC074182;AMYH01011320;NG_021541 1667408 SHGC-64074 pseudo 45123 INFERRED 734378 CACNG5 calcium channel, voltage-dependent, gamma subunit 5 The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. This gene is a susceptibility locus for schizophrenia and bipolar disorder. [provided by RefSeq, Dec 2010] 17 17 17 q24 61446119 61454026 + 62303913 62311819 + 64873391 64881395 + 1300374;1580863;6480464;6907045 10613843 15489334;12477932;11927536;11738816;11170751;17652770;21057379 27091 Q9UF02 ABBA01029020;AC005988;AF142618;AF142619;AF142620;AF142621;AF148220;AF361351;AF458898;AK290171;AMYH01008582;BC101607;BC101633;CH471099;NM_145811 AAF00132;AAF03089;AAI01608;AAI01634;AAL50046;AAM00595;BAF82860;EAW89018;EAW89019;NP_665810;Q9UF02 Hs.278907 1797346 CACNG5_3025 MGC126656;MGC126682 OTTHUMP00000232948;TARP gamma-5;neuronal voltage-gated calcium channel gamma-5 subunit;transmembrane AMPAR regulatory protein gamma-5;voltage-dependent calcium channel gamma-5 subunit APPROVED protein-coding ENSG00000075429 1409 05912 606405 REVIEWED 1317719 CACUL1 CDK2-associated, cullin domain 1 10 10 10 q26.11 114171140 114245410 - 120430484 120504748 - 120440494 120514758 - 737633 12477932 15489334;15164054;14702039;19829063;22415352;19471022;21139048;22982681;23178685;23000965;22903020 143384 B4DVQ4;Q86Y37 ABBA01062929;ABBA01062930;ABBA01062931;AJ544771;AK026985;AK057742;AK097728;AK131008;AK301182;AL139407;AL157388;AMYH01003107;AY743663;BC038294;BG772719;BU623607;CH471066;NM_153810 AAH38294;AAU89709;BAC05153;BAG62766;CAD67614;EAW49411;EAW49412;NP_722517;Q86Y37 Hs.420024 1644307;1673949;1740015;1856142;2169309;2183695;5019741;5022322;5024039 A009N08;D10S1627;D11S2560;D16S325;G06209;G32677;RH69427;WI-16905;WI-17887 C10orf46;CAC1;FLJ40409;MGC33215 CDK2-associated and cullin domain-containing protein 1;Cdk-Associated Cullin1;OTTHUMP00000020585;OTTHUMP00000020586;chromosome 10 open reading frame 46;cullin;uncharacterized protein C10orf46 APPROVED protein-coding ENSG00000151893 23727 12576 VALIDATED 735845 CACNG6 calcium channel, voltage-dependent, gamma subunit 6 Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [provided by RefSeq, Dec 2010] 19 19 19 q13.4 51535226 51555565 + 59187354 59207732 + 54495542 54515920 + 1580863;6480464;6907045 11170751;15489334;12477932;11738816;20860846;17652770 59285 A6NFR2;A6NP74;Q9BXT2 ABBA01068180;ABBA01068181;AC008440;AF288386;AF361352;AMYH01009976;BC021552;BX281606;CH471135;NM_031897;NM_145814;NM_145815;NR_102308 AAH21552;AAK20029;AAL50047;ABM86136;ABW03468;ABW03776;EAW72170;EAW72171;EAW72172;NP_114103;NP_665813;NP_665814;Q9BXT2 Hs.631560 1798376;1798994;1799526;1802540;1821264;1826504;1827886;1836230;1837454;1837604;1840656;1842650;1843096;2103418;2103420;2103422;2103424;2103426;2103428;2103430;2103432;2103434;2103436;2103438;2103440;2131215 ECD00024;ECD00342;ECD00615;ECD02156;ECD11712;ECD14366;ECD15066;ECD19276;ECD19894;ECD19969;ECD21518;ECD22532;ECD22756;WI-22592;stSG605702;stSG605703;stSG605704;stSG605705;stSG605706;stSG605707;stSG605708;stSG605710;stSG605712;stSG605713;stSG605715;stSG605716 OTTHUMP00000067375;OTTHUMP00000067376;neuronal voltage-gated calcium channel gamma-6 subunit;voltage-dependent calcium channel gamma-6 subunit APPROVED protein-coding ENSG00000130433 13625 06061 606898 REVIEWED 6481315 CADM2-AS1 CADM2 antisense RNA 1 100874038 AC107024 APPROVED miscrna 41248 6481314 CADM2-AS2 CADM2 antisense RNA 2 3 85849137 85877200 - 11329013;22832960 100874037 ABBA01031084;AC117452;AMYH01013322;BG200721;NR_046752 Hs.570566 APPROVED miscrna ENSG00000241648 41247 PREDICTED 732586 CACNG7 calcium channel, voltage-dependent, gamma subunit 7 The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010] 19 19 19 q13.4 51457105 51485939 + 59107883 59138080 + 54415991 54446969 + 6480464;6907045 11170751;15489334;12477932;11927536;11738816;17652770 59284 P62955 ABBA01068183;ABBA01068184;ABBA01068185;AC008440;AF288387;AF361353;AF458897;AL537399;AMYH01009970;AMYH01009971;BC069332;BC093869;BC113503;CH471135;NM_031896 AAH69332;AAH93869;AAI13504;AAK20030;AAL50048;AAM00594;ADR83128;EAW72162;EAW72163;EAW72164;EAW72165;EAW72166;NP_114102;P62955 Hs.631597 1798642;1798716;1814262;1819996;1823936;1830794;1832628;1834304;1834866;1837028;1842200;2103348;2103350;2103352;2103354;2103356;2103358;2103360;2103362;2103364;2103366 ECD00160;ECD00198;ECD08160;ECD11069;ECD13063;ECD16533;ECD17455;ECD18300;ECD18583;ECD19678;ECD22303;stSG605644;stSG605645;stSG605647;stSG605648;stSG605649;stSG605656;stSG605657;stSG605660;stSG605662;stSG605663 OTTHUMP00000067298;OTTHUMP00000067299;OTTHUMP00000197715;TARP gamma-7;neuronal voltage-gated calcium channel gamma-7 subunit;transmembrane AMPAR regulatory protein gamma-7;voltage-dependent calcium channel gamma-7 subunit APPROVED protein-coding ENSG00000105605 13626 06062 606899 REVIEWED 1344995 CACTIN cactin, spliceosome C complex subunit 19 19 19 p13.3 3547464 3563656 - 3561626 3577813 - 3610626 3626813 - 6480464 14667819;15302935;15489334;15197164;15146197;15057824;12477932;11991638;10508479;9110174;8619474;17353931;19913121;20628086;20829348;21429463;23251661 58509 J3KMW8;K7EIU6;K7EMQ0;K7ENY9;K7EQE3;Q8WUQ7 ABBA01002835;AC005175;AC005542;AF052087;AF155102;AK299963;AMYH01009315;AW027691;AY917150;BC004262;BC019848;BF196424;CF272634;CN305928;CO248922;NM_001080543;NM_021231 AAC24305;AAC32903;AAD42868;AAH04262;AAH19848;AAI56485;AAI72549;AAX84551;BAG61789;NP_001074012;NP_067054;Q8WUQ7 Hs.128425 2132848;2132850 A005X06;G20563 C19orf29;FLJ17482;FLJ59622;NY-REN-24;fSAPc NY REN 24 antigen;NY-REN-24 antigen;cactin homolog;chromosome 19 open reading frame 29;functional spliceosome-associated protein c;renal carcinoma antigen NY-REN-24;uncharacterized protein C19orf29 APPROVED protein-coding ENSG00000105298 29938 VALIDATED 1312331 CADM4 cell adhesion molecule 4 19 19 19 q13.31 40929016 40946485 - 48818362 48835831 - 44126522 44143991 - 6480464 11536053;16261159;12477932;16825666;19565570;20200953;21139048;21900206;21544807 199731 Q8NFZ8 ABBA01040863;AC005525;AF363368;AK313028;AMYH01009840;BC068457;BC113963;CH471126;NM_145296 AAC32740;AAI13964;AAI40327;AAI41628;AAM60750;BAG35862;EAW57212;EAW57213;EAW57214;NP_660339;Q8NFZ8 Hs.370984 1658758;2109427;2124171 D19S832;IGSF4C__6451;RH48989 IGSF4C;NECL4;Necl-4;TSLL2;synCAM4 TSLC1-like 2;TSLC1-like protein 2;cell adhesion molecule 4;immunoglobulin superfamily member 4C;nectin-like 4;nectin-like protein 4 protein-coding ENSG00000105767 30825 17141 609744 VALIDATED 1322220 CADM1 cell adhesion molecule 1 11 11 q23.2 114549555 114880451 - 115044345 115375241 - 1580863;2289088;2289091;2289095;2289096;2289089;2289090;2296030;6480464 17260099;12079507;17428255;16814249;17009984;15589594;16532039 21436696;12826663;15811952;19371721;19115211;18957284;18922876;18726896;18684968;18559103;18498117;18471525;18332875;18084322;17326163;17300670;17130425;17018592;16394014;16311015;16303743;16205641;16108829;16083501;15905536;15781451;15535129;15471956;15231748;15184878;14970278;14639656;14633730;14559819;13679854;12975309;12973698;12942568;12925956;12920246;12716461;12477932;12432281;12234973;12202822;12112527;12050160;11279526;10610705;22706526;23063768;21190187;23142238;19561085;12759359;15741237;19643986;19653122;19783739;19835597;19854157;19995226;20190806;20215110;20379614;22173495;20375924;20709797;20838585;22289924;22438059;19913121;20570966;20628086;20677014;20340131;21329006;21045196;21081044;21131357;21643982;21271221;22528944;23301758;21526423;23136087;21067843;21389098;21880726;22207107;23176198;23530148;23028344;21139048;22237452;22547693;22429880;22392644;22863734;22926846;22851235;22940845;23504322;23251661;23310950;23047161;23330003 23705 F5H0H5;F5H125;F5H372;F5H8J9;H0YG94;Q8N2F4 AB017563;AB094146;ABBA01039760;ABBA01039761;ABBA01039762;ABBA01039763;AF132811;AK075502;AK172730;AK315245;AL080181;AMYH01004047;AMYH01004048;AP000462;AP000465;AP003174;AP003179;AP005020;AY309502;AY358334;BC035930;BC047021;BC125102;BC125103;BI915307;BM309987;BX641042;BX647110;CA447277;CA777709;CH471065;CR457157;CS019549;EF444987;HC206622;HE586496;HE586497;HE586498;HE586499;HE586500;HE586501;HE586503;NM_001098517;NM_014333 AAF69029;AAH47021;AAI25103;AAI25104;AAQ81866;AAQ88700;ACA06003;BAA75822;BAC11657;BAC66178;CAE46024;CAG33438;CAI58842;CBI85480;CCD32610;CCD32611;CCD32612;CCD32613;CCD32614;CCD32615;CCD32617;EAW67256;EAW67257;EAW67258;EAW67259;EAW67260;NP_001091987;NP_055148;Q9BY67 Hs.370510 1298102;1648013;1648700;1650814;1658206;1719075;1737731;1737739;1767897;1770956;1771335;1772266;1776499;1780256;1848851;1850449;1851350;1851976;2111824;2112322;2118026;2138486;2145896;2148007;2149180;2153786;2163949;2165191;2179931;2181289;2190899;5015961;5037552;5128209;7184936 2024;AFMA340WD1;C95578;C95582;C95583;C95588;C95596;C95603;C95606;C95619;C95631;C95632;C95641;C95642;D11S1077;D11S2038;D11S3323;D11S3337;D11S4502;D11S4636;D11S4693;D11S4897;D11S908;D15S1477;D8S2279;MARC_10475-10476:999705103:1;RH123254;RH47150;RH47303;RH65662;SHGC-152044;SHGC-154812;SHGC-31226;WI-20930 BL2;DKFZp686F1789;IGSF4;IGSF4A;MGC149785;MGC51880;NECL2;Necl-2;RA175;ST17;SYNCAM;TSLC1;sTSLC-1;sgIGSF;synCAM1 OTTHUMP00000238280;OTTHUMP00000238281;OTTHUMP00000238282;OTTHUMP00000238283;OTTHUMP00000238284;OTTHUMP00000238285;TSLC-1;TSLC1/Nectin-like 2/IGSF4;cell adhesion molecule 1;immunoglobulin superfamily member 4;immunoglobulin superfamily, member 4;immunoglobulin superfamily, member 4D variant 2;nectin-like 2;nectin-like protein 2;spermatogenic immunoglobulin superfamily;synaptic cell adhesion molecule;truncated CADM1 protein;tumor suppressor in lung cancer 1 protein-coding ENSG00000182985 5951 05746 605686 VALIDATED 1313847 CADM2 cell adhesion molecule 2 This gene encodes a member of the synaptic cell adhesion molecule 1 (SynCAM) family which belongs to the immunoglobulin (Ig) superfamily. The encoded protein has three Ig-like domains and a cytosolic protein 4.1 binding site near the C-terminus. Proteins belonging to the protein 4.1 family crosslink spectrin and interact with other cytoskeletal proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 3 3 3 p12.1 85754715 86870332 + 85858322 86200641 + 85008133 86123579 + 6480464 16311015;12477932;8889548;19861958;20379614;14702039;20935630;21062931;21864505;22589738;22832960 253559 G3XHN4;G3XHN7;G3XHN8;Q8N3J6 AB646739;AB646740;AB646741;AB646742;AB646743;ABBA01031081;ABBA01031082;ABBA01031083;ABBA01031084;ABBA01031085;ABBA01031086;ABBA01031087;ABBA01031088;ABBA01031089;AC018361;AC023600;AC107024;AC107026;AC108700;AC117452;AC119726;AC119729;AC132660;AC134650;AF538973;AK090787;AK094943;AK095545;AK295885;AL833049;AL834270;AMYH01013317;AMYH01013318;AMYH01013319;AMYH01013320;AMYH01013321;AMYH01013322;AMYH01013323;BC040985;BC105999;BC112136;BC112138;BM674450;BX954585;CH471110;CQ893573;NM_001167674;NM_001167675;NM_001256502;NM_001256503;NM_001256504;NM_001256505;NM_153184 AAI06000;AAI12137;AAI12139;AAN16368;BAG58681;BAK93302;BAK93303;BAK93304;BAK93305;BAK93306;CAD38945;CAH56314;CAH68708;EAW68874;EAW68875;NP_001161146;NP_001161147;NP_001243431;NP_001243432;NP_001243433;NP_001243434;NP_694854;Q8N3J6 Hs.164578 1337169;1339773;1342264;1659847;1660118;1673669;1679461;1682650;1688102;1693320;1694880;1705458;1707134;1715485;1720723;1720727;1733930;1740087;1749245;1754929;1789136;1849944;2125421;2127184;2130112;2131417;2151612;2154152;2155243;2164634;2175277;2176986;2180361;5092744 A005W32;A007K07;AFM161xg11;D3S1276;D3S1663;D3S2315;D3S2392;D3S2451;D3S2544;D3S3502;D3S4553;G16557;G32302;G42366;G44321;G59335;G59337;G65704;RH120985;RH12384;RH78551;RH78628;RH80056;RH99008;SHGC-110936;SHGC-141853;SHGC-77126;SHGC-77127;SHGC-81333;SHGC-83814;STS-H08139;UniSTS:73712;WI-18489;WI-21552 IGSF4D;MGC104534;MGC138341;MGC138343;NECL3;Necl-3;SynCAM 2;synCAM2 OTTHUMP00000213814;OTTHUMP00000213815;OTTHUMP00000213816;cell adhesion molecule 2;immunoglobulin superfamily member 4D;nectin-like 3;nectin-like protein 3;synaptic cell adhesion molecule 2 APPROVED protein-coding ENSG00000175161 29849 11046 609938 VALIDATED 1346732 CACYBP calcyclin binding protein The protein encoded by this gene is a calcyclin binding protein. It may be involved in calcium-dependent ubiquitination and subsequent proteosomal degradation of target proteins. It probably serves as a molecular bridge in ubiquitin E3 complexes and participates in the ubiquitin-mediated degradation of beta-catenin. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q24-q25 173235194 173247786 + 174968571 174981163 + 2326117;2326146;6480464;6907045 16440310;18765951 17353931;18443365;18171983;17400182;16085652;15489334;14702039;12895292;12477932;12421809;12042313;12006993;11927578;11389839;19615732;20562859;20878073;18029348;21297076;21110948;22939629;20585948;22863883;22874833;22990118;16196087;19135240;20181957;21268134;18781797;22118674;21139048;21890473;21906983;18803400;21628590;22295074;19875381;23208506;21466614;22480271;22053931;22505724 27101 B2ZWH1;Q9HB71 ABBA01027873;AF057356;AF275803;AF314752;AK093425;AK294042;AK313278;AL035305;AMYH01001514;AW300675;AX058084;AY423723;BC005975;BC022352;BC067823;BC078151;BQ432793;CA951015;CH471067;NG_029961;NM_001007214;NM_014412;Z99127 AAC21458;AAG23817;AAG34170;AAH05975;AAH22352;AAH67823;AAH78151;AAS00486;BAG36086;BAG52713;BAG57394;CAA22910;CAC22475;EAW90982;EAW90983;NP_001007215;NP_055227;Q9HB71 Hs.508524 1644145;1667408;1710524;2124321;2136931;2162904;2164939;5017568 CACYBP;D1S2592;RH64562;SHGC-31968;SHGC-64074;SHGC-75931;SHGC-75932;SHGC-86290 GIG5;MGC87971;PNAS-107;RP1-102G20.6;S100A6BP;SIP OTTHUMP00000032884;OTTHUMP00000032885;OTTHUMP00000201857;S100A6-binding protein;Siah-interacting protein (SIP);calcyclin-binding protein;growth-inhibiting gene 5 protein;hCacyBP APPROVED protein-coding ENSG00000116161 30423 07316 606186 REVIEWED 1315991 CADM3 cell adhesion molecule 3 IGSF4B is a brain-specific protein related to the calcium-independent cell-cell adhesion molecules known as nectins (see PVRL3; MIM 607147) (Kakunaga et al., 2005 [PubMed 15741237]).[supplied by OMIM, Mar 2008] 1 1 q21.2-q22 157408044 157438426 + 159141377 159172932 + 6480464 12826663;19165527;19062177;18502984;18420026;17903293;16710414;16467305;15893517;15741237;15340161;14702039;14659875;12975309;12477932;11536053;21325282;11544254;18686605;19565570;20237496;20598232;22360420;22291609;21139048;20078932 57863 Q8N126 ABBA01016620;AF062733;AF363367;AF529206;AK001560;AK289541;AK308915;AL035403;AMYH01001444;AY046418;AY358332;AY663416;AY663417;AY663418;AY663419;AY663420;AY663421;AY663422;AY663423;AY663424;AY663425;AY663426;AY663427;AY663428;AY663429;AY663430;AY663431;AY663432;AY663433;BC033819;CH471121;CS019555;CS019557;DQ181553;DQ181554;DQ181555;DQ181556;DQ181557;DQ181558;DQ181559;DQ181560;DQ181561;DQ181562;DQ181563;DQ181564;DQ181565;DQ181566;DQ181567;HC206628;HC206630;NM_001127173;NM_021189 AAD17540;AAH33819;AAL02143;AAM60749;AAN75603;AAQ88698;AAU47274;AAU47277;AAU47280;AAU47283;AAU47286;AAU47289;AAU47292;AAU47295;AAU47298;AAU47301;AAU47304;AAU47307;AAU47310;AAU47313;AAU47316;AAU47319;AAU47322;AAU47325;ABA10402;ABA10405;ABA10408;ABA10411;ABA10414;ABA10417;ABA10420;ABA10423;ABA10426;ABA10429;ABA10432;ABA10435;ABA10438;ABA10441;ABA10444;ABM81774;ABM84928;BAA91756;BAF82230;CAI58844;CAI58845;CBI85482;CBI85483;EAW52792;EAW52793;EAW52794;NP_001120645;NP_067012;Q8N126 Hs.365689 1340905;1674852;1846882;2117930;2141228;2164682 A001Y21;D1S2635;D1S3501;RH11558;RH12336;STS-T65055 BIgR;FLJ10698;IGSF4B;NECL1;Necl-1;TSLL1;synCAM3 OTTHUMP00000035289;OTTHUMP00000035290;OTTHUMP00000035291;TSLC1-like 1;TSLC1-like protein 1;brain immunoglobulin receptor;cell adhesion molecule 3;dendritic cell nectin-like protein 1 short isoform;immunoglobulin superfamily member 4B;nectin-like 1;nectin-like protein 1;synaptic cell adhesion molecule 3 APPROVED protein-coding ENSG00000162706 17601 13733 609743 VALIDATED 6480342 CAHM colon adenocarcinoma hypermethylated (non-protein coding) 6 163834097 163834982 - 8889548 100526820 ABBA01015111;AL356119;AMYH01016835;BG168587;BQ771676;BX381206;CA945055;NG_029604;NR_037593 Hs.644159 LINC00468 miscrna ENSG00000270419 42860 VALIDATED 1348167 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. [provided by RefSeq, Jul 2008] 2 2 p22-p21 27293762 27320158 + 27440258 27466654 + 1580863;2303530;2303540;2303532;5132586;5132591;5133412;5132587;6480464;6907045 2888462;6030068;3973436;13618893;1476792;15096496;2914957 21145461;21319273;8619816;15326225;15890648;9525610;18679823;17081983;16964243;16155188;15621215;15489334;15324660;14559996;14523024;12746293;12477932;12438317;11986331;11854437;4092695;2885743;2565865;1979741;20379614;20659789;16055720;19394292;16335966;22939629;16196087;16051665;18457437;19596686;21081666;21697133;21982950;18781797;21139048;21890473;21906983;21987572;20473970;21575865;22145905;22318606;22586326;17266347;19805454;20085233;21963094;22623428;23000965;23143245;23438482;18729074;19380743;22505724 790 F8VPD4;H7BZB3;H7C2E4;H7C3Z5;P27708 AB621827;ABBA01045199;AC013403;AC013413;AK226105;AMYH01010195;BC014178;BC065510;BM927624;BU541191;BU558264;CH471053;D78586;M38561;NM_004341 AAA51907;AAH14178;AAH65510;AAX93165;AAY24293;BAA11423;BAK64162;EAX00612;EAX00613;EAX00614;NP_004332;P27708 Hs.377010 1712186;1792206;1793306;2181945;5024555;5121494 G54144;PMC139788P1;PMC207647P2;RH70745;SGC30858;WI-14618 CAD protein;CAD trifunctional protein;OTTHUMP00000122585;OTTHUMP00000201035;multifunctional protein CAD APPROVED protein-coding ENSG00000084774 1424 06437 114010 REVIEWED 1344966 CADPS Ca++-dependent secretion activator This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. [provided by RefSeq, Aug 2008] 3 3 3 p14.2 62401123 62879063 - 62359061 62836094 - 62384021 62861064 - 1299540;1580863;6480464 1516133 15489334;14702039;14530279;12659812;12477932;12421765;12168954;10574461;9697858;9525942;9289490;1429734;15857609;16169070;20379614;19913121;20628086;21697133;21798848;22566634;22747683;17984325;21601610;23382691 8618 H0YFP0;H7C4K9;H7C4P2;H7C4T6;H7C538;H7C5J0;Q9ULU8 AB032947;AB593079;ABBA01024327;ABBA01024328;ABBA01024329;AC012519;AC092039;AC104161;AC124860;AF458662;AK000873;AK127506;AL833895;AMYH01013241;AMYH01013242;BC015754;BC029460;BC035100;BC072684;BC131731;BX647166;CH471055;NM_003716;NM_183393;NM_183394;R54020;U36448 AAA79701;AAH15754;AAH29460;AAH72684;AAI31732;AAM61861;BAA86435;BAJ84019;CAD38751;EAW65405;EAW65406;EAW65407;EAW65408;EAW65409;EAW65410;EAW65411;NP_003707;NP_899630;NP_899631;Q9ULU8 Hs.654933 1337419;1337606;1644042;1647282;1657287;1657876;1671482;1677466;1708592;1708800;1713229;1713511;1714245;1715409;1718699;1722711;1724479;1735284;1740143;1751091;1756377;1759443;1760261;1767833;1851309;1855738;2112746;2113736;2116208;2117026;2120244;2126251;2128538;2134199;2151060;2160057;2164161;2164163;2171591;2172893;2184634;2186021;5094776 A002A38;AB049865;AGAT128;CHLC.GATA61E08;D3S1312;D3S2865E;D3S2931E;D3S3068;D3S3119;D3S3395;D3S3506;D3S3566;D3S3913;D3S4010;D3S4440;G17282;G19863;G60440;RH119901;RH120240;RH120537;RH120604;RH122405;RH123040;RH12341;RH47457;RH78270;RH91169;SHGC-104973;SHGC-132569;SHGC-143347;SHGC-150757;SHGC-31932;SHGC-36112;SHGC-77045;SHGC-77057;SHGC-77062;SHGC-77085;SHGC-81061;SHGC-85085;STS-T59032;WI-12448;WI-20079 CADPS1;CAPS;CAPS1;KIAA1121 CAPS-1;Ca2+-dependent activator protein for secretion;Ca2+-dependent secretion activator;Ca2+-regulated cytoskeletal protein;OTTHUMP00000213223;OTTHUMP00000213348;OTTHUMP00000213351;calcium-dependent activator protein for secretion 1;calcium-dependent secretion activator 1 APPROVED protein-coding ENSG00000163618 1426 05236 604667 REVIEWED 1604175 CAGE1 cancer antigen 1 6 6 6 p24.3 8556649 8619686 - 7271886 7334941 - 7326887 7389942 - 6480464 17786288;17114284;16964403;15489334;14702039;14574404;12531476;12477932 285782 D6R9A7;D6RCC6;E7EUJ7;Q8TC20 ABBA01022040;ABBA01022041;AF414185;AK097760;AL139095;AMYH01016063;AMYH01016064;BC026188;BC026194;BC033545;CH471087;NM_001170692;NM_001170693;NM_205864 AAH26194;AAH33545;AAO47239;ABM83382;ABM86594;BAC05162;EAW55206;EAW55207;EAW55208;EAW55209;NP_001164163;NP_001164164;NP_995586;Q8TC20 Hs.721486 1663147;2145805 D8S1159;RH36530 CT3;CT95;CTAG3;FLJ40441;bA69L16.7 CT3;OTTHUMP00000015995;OTTHUMP00000015996;OTTHUMP00000221197;OTTHUMP00000221198;OTTHUMP00000221200;OTTHUMP00000221202;cancer-associated gene 1 protein;cancer/testis antigen 3;cancer/testis antigen 95;cancer/testis antigen gene 1 protein-coding ENSG00000164304 21622 10511 608304 VALIDATED 1342691 CADPS2 Ca++-dependent secretion activator 2 This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009] 7 7 7 q31.3 116762799 117331572 - 121745714 122313790 - 121958478 122526813 - 6480464 19058789;19008227;17380209;16344560;15857609;15489334;14702039;14530279;12659812;12477932;10997877;12421765;14715936;20171287;20379614;19690564;21626674;22001167 93664 B7ZM57;C9IYE1;F8W8P5;H0Y8B5;H7BYR4;Q9HCI1 AACC02000001;AB046811;ABBA01057742;ABBA01057743;ABBA01057744;ABBA01057745;ABBA01057746;ABBA01057747;ABBA01057748;AC004594;AC004838;AC004986;AC006009;AC015983;AC091438;AF401638;AK000768;AK025672;AK054853;AK126518;AL833058;AMYH01017899;AMYH01017900;AY264289;BC054339;BC136601;BC144278;BC144279;BX110721;CH236947;CH471070;DA118516;DA248542;DA323097;NG_016215;NM_001009571;NM_001167940;NM_017954 AAH54339;AAI36602;AAI44279;AAI44280;AAN38707;AAP22132;BAA91372;BAB13417;BAB15210;BAG51434;BAG54341;CAH56288;EAL24339;EAW83571;EAW83572;EAW83573;EAW83574;EAW83575;EAW83576;NP_001009571;NP_001161412;NP_060424;Q86UW7 Hs.649459 1338770;1341619;1646327;1651971;1664427;1706950;1710048;1710316;1714075;1721995;1724705;1752085;1769210;1771513;1774409;1786406;1788796;1796696;1850332;1851344;1852164;2113710;2116452;2126505;2132732;2134201;2134661;2142875;2147856;2158792;2165472;2168107;2169503;2180571;2184040;2187721;2187723;2187725;2189277;2189279;2189281;2189283;2189285;2189287;2189289;2189291;2189293;2189295;2189297;2189299;2189301;2189303;2189305;2189307;2189309;2189311;2189313;2189315;2189317;2189319;2189321;2189323;2189505;7186670 AB070023;D7S1550;D7S1906;D7S1960;D7S1982;D7S2177;D7S2219;D7S2486;D7S2529;D7S3210;D7S3211;D7S3213;D7S3214;D7S3215;D7S3216;D7S3217;D7S3218;D7S3219;D7S3220;D7S3221;D7S3222;D7S3223;D7S3224;D7S3225;D7S3226;D7S3227;D7S3228;D7S3229;D7S3230;D7S3231;D7S3232;D7S3233;D7S3234;D7S3235;D7S3236;D7S3237;D7S3238;D7S711;D7S731;G59883;GDB:1234292;GDB:1317866;GDB:1317954;GDB:1318270;GDB:1318464;NIB2049;RH119642;RH122556;RH137681;RH46936;RH48021;RH48144;RH65176;RNF133_1733r1;SGC38250;SHGC-106021;SHGC-171982;SHGC-32546;SHGC-80972;SHGC-82300;SHGC-82403;STS-AA026969;WI-14238 FLJ40851;KIAA1591 CAPS-2;Ca2+-dependent activator protein for secretion 2;OTTHUMP00000211454;OTTHUMP00000211455;OTTHUMP00000213045;calcium-dependent activator protein for secretion 2;calcium-dependent secretion activator 2 APPROVED protein-coding ENSG00000081803 16018 12996 609978 REVIEWED 732083 CALB1 calbindin 1, 28kDa Calbindin is a calcium-binding protein belonging to the troponin C superfamily. It was originally described as a 27-kD protein induced by vitamin D in the duodenum of the chick. In the brain, its synthesis is independent of vitamin-D-derived hormones. Calbindin contains 4 active calcium-binding domains, and 2 modified domains that presumably have lost their calcium-binding capacity. The neurons in brains of patients with Huntington disease are calbindin-depleted. [provided by RefSeq, Jul 2008] 8 8 q21.3 91140014 91164283 - 91070838 91095107 - 704404;633843;704383;1580863;6480464;7204685 12204357;12372637;20943758 3691519;16928804;18587625;18568448;18359862;18259068;17442486;17156698;16421571;15741335;15641794;15489334;14702039;12684061;12606474;12520521;12477932;12176979;11994015;10841767;9373717;8739042;7943215;2897519;2565876;1906795;1713126;1537319;20214988;16763551;19674066;20054781;20098747;20452033;22483853;17257825;21364983;22272358 793 B7Z9J4;E5RG14;E5RIZ8;P05937 ABBA01037403;AC004612;AC123779;AF068862;AF070717;AK054881;AK295585;AK312491;AK315959;AMYH01018873;BC006478;BC020864;BX537530;CH471060;M19878;M19879;NM_004929;S46006;X06661 AAA98991;AAA98992;AAB19408;AAC14672;AAC25277;AAC62230;AAH06478;AAH20864;BAG35393;BAG51438;BAH12116;BAH14330;CAA29860;EAW91665;EAW91666;NP_004920;P05937 Hs.65425 1653399;1657965;2119893;2185604;2218332 CALB1_4495;D8S1947;SGC30430;SHGC-30996;WI-16365 CALB D-28K;OTTHUMP00000166027;OTTHUMP00000225441;RTVL-H protein;calbindin;calbindin 1;calbindin 1, (28kD);calbindin D28;vitamin D-dependent calcium-binding protein, avian-type APPROVED protein-coding ENSG00000104327 1434 00229 114050 REVIEWED 1351311 CALCP calcitonin pseudogene 11 11 11 p15.1 15056164 15056664 + 14885522 14886222 + 14929045 14929545 + 8468047;2898385 798 ABBA01061099;AC090835;AMYH01003406;NG_001088;X07964;X07965 2139647 CALC-P CALC3 pseudo 1439 INFERRED 1350431 CALCB calcitonin-related polypeptide beta 11 11 p15.2-p15.1 15051722 15056753 + 15095146 15100177 + 1580863;6480464 12477932;2985435;19192276;19086053;15761041;15489334;14702039;11803621;8468047;6091915;3493259;3492492;3492393;2322288;1318039;18577758;18240029;12036966;21641113 797 E7ESF5;P10092 ABBA01061097;AC090744;AI937230;AK054728;AK291188;AMYH01003406;BC092468;BI668461;CH471064;M28640;M28641;NM_000728;X02404;X04855;X04861 AAH92468;BAF83877;CAA26249;CAC05295;EAW68466;EAW68467;NP_000719;P10092 Hs.534305 1742567;1854927 D11S4626;GDB:197895 CALC2;CGRP-II;CGRP2;FLJ30166 OTTHUMP00000227061;OTTHUMP00000231700;beta-CGRP;beta-type CGRP;calcitonin 2;calcitonin gene-related peptide 2;calcitonin gene-related peptide II;calcitonin-related polypeptide, beta protein-coding ENSG00000175868 1438 11742 114160 VALIDATED 733108 CALCRL calcitonin receptor-like 2 2 q32.1 187916091 188021266 - 188207846 188313021 - 1580863;6480464 7818539;19598235;19394311;19210874;18198792;17785463;17675298;17503773;17310067;17067815;16622024;16495482;16410241;16344560;16293613;15797661;15641806;15613468;15340161;15300632;15245870;14722252;14668209;12824306;12684703;12684503;12630808;12574158;12538603;12490608;12419522;12234182;12213903;12128288;12093471;12084528;11973435;11937264;11921352;11814625;11693189;11535606;11420389;11389975;11387328;10903324;10882736;10772950;10767413;10217420;9876047;9620797;8626685;3001670;2826160;12036966;20954838;18039931;18240029;19581316;19898635;19903822;19913063;20074556;20379614;20424473;22933837;20946927;21703310;22102369;22142144;22484227;22208649 10203 B8ZZJ4;E7EN01;Q16602 AA436933;AA961493;ABBA01062350;AC007319;AC074020;AK291630;AK292998;AL602685;AMYH01011339;AMYH01011340;AY389506;BQ002778;CB270158;CH471058;DA097876;DA215003;DA217003;DA883991;DQ280491;L76380;NM_001271751;NM_005795;U17473 AAA62158;AAC41994;AAI56828;AAQ91332;AAY14806;AAY14996;ABC16643;BAF84319;BAF85687;EAX10925;EAX10926;NP_001258680;NP_005786;Q16602 Hs.470882;Hs.744587 1338110;1661519;1669962;1705368;1715751;1719717;1734754;1747981;1751481;1849993;2108713;2161781;2166799;5014051;5022200;5022651;5093136;7186944 A006O27;A009H16;CALCRL_7967;D11S2921;D2S152;D2S1541E;D8S2278;G32541;G66836;L18426;RH119322;RH123547;RH70468;SGC31527;SHGC-105313;SHGC-34224;SHGC-83539 CGRPR;CRLR CGRP type 1 receptor;OTTHUMP00000163474;OTTHUMP00000205433;OTTHUMP00000205434;calcitonin gene-related peptide type 1 receptor;calcitonin receptor-like receptor protein-coding ENSG00000064989 16709 11809 114190 VALIDATED 730992 CALCA calcitonin-related polypeptide alpha This gene encodes the peptide hormones calcitonin, calcitonin gene-related peptide and katacalcin by tissue-specific alternative RNA splicing of the gene transcripts and cleavage of inactive precursor proteins. Calcitonin is involved in calcium regulation and acts to regulate phosphorus metabolism. Calcitonin gene-related peptide functions as a vasodilator while katacalcin is a calcium-lowering peptide. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009] 11 11 p15.2 14944792 14950408 - 14988215 14993832 - 1580863;734677;2314032;2314035;2314033;2314034;5684343;5684013;5684010;5684360;5684019;5684020;6480464;5684017;5684345;7204486;7204479;7204487;7205498 2502220;19816194;17151309;19152794;17934713;19900492;21718723;21964254;19563774;21181115;20959432;21195698;19684430;15928032;19194162;15583078;15286264 21219690;21658317;11803621;11389975;11337490;11317366;11185743;10754330;9620797;8626685;8468047;8405394;6610687;6609312;6546550;6327497;6148938;6132180;5760861;3872459;3549095;3492492;3485540;3259294;3034287;3001670;2983422;2578663;2571128;2039456;2001366;1988044;1761559;1318039;15155765;17558349;17552872;17535749;17485015;17481780;17441790;17381353;17251226;17149558;17123735;17101796;17038199;17026622;16996466;16890288;16840549;16720289;16712930;16710309;16611736;16597919;16574742;16531504;16511394;16439457;16236878;15880427;15784626;15761654;15761041;15621724;15489334;15449935;15319367;15300632;15168342;14984255;14759258;14745805;14684361;14668209;14654229;14627864;14586070;12917321;12871824;12728303;12594852;12590613;12540523;12529288;12517415;12477932;12446725;12369791;12359227;12234182;12231407;12220731;12213903;12198603;12063634;8078488;8940110;17983652;2408883;9685362;17267696;1326102;10642343;10822112;17241109;16014619;11014233;16904178;3266556;18057382;19543500;19541585;19453261;19440016;19299090;19086053;19078972;18959118;18953261;18941191;18784182;18779512;18626012;18574663;18525431;18384419;18295515;18211417;18197882;18180663;18167349;17941085;17785463;17710246;17676478;17669797;18556380;20375903;17207965;15248232;15203218;16386179;18240029;18403669;19236383;19282810;19447044;19484659;19541012;19589278;19623026;19736013;19797133;19829249;19909213;20010500;20046084;20146868;20173430;20233513;12036966;20214413;18577758;19715516;20654671;19913121;20628086;20654748;19485922;20131075;20441469;20805714;20890583;20146986;21211657;20832068;19685709;17087112;20930646;20530033;20595156;21216873;21703310;22607374;21541027;10882736;14722252;22652631;20929576;20699253;20143189;21778801;21391919;21550738;22200484;22371911;21078153;21083886;21352816;21423046;21996233;22207498;21457239;22429353;23214280;20803037;21843355;21937947;22149667;22550867;22019953;22399852;22074408;22079264;22631226;22898635;21289592;22233274;22573121;15696922;23356193;22961239;23010746;23118979;22677443;22685586;18000879;23436675;23580106;22960196;23237777;22208649;22561677;22819536 796 P01258;P06881 A15601;ABBA01061097;AC090835;AMYH01003406;BC069684;BC069704;BC069760;BC069778;BC093753;BC101599;BC143562;BF447272;BF942024;CD612754;CH471064;DQ080435;FB571423;FB571425;FB571427;FO082042;K03512;K03513;M12666;M12667;M26094;M26095;M28637;M64486;NG_015960;NM_001033952;NM_001033953;NM_001741;X00356;X02330;X03662;X15943 AAA35501;AAA51912;AAA51913;AAA51914;AAA52011;AAA52012;AAA52124;AAA58403;AAH69684;AAH69704;AAH69760;AAH69778;AAH93753;AAI01600;AAI43563;AAY68212;ADQ32890;CAA01243;CAA25103;CAA26189;CAA26190;CAA27299;CAA34070;CAR95129;CAR95130;CAR95131;EAW68468;EAW68469;NP_001029124;NP_001029125;NP_001732;P01258;P06881 Hs.37058 1694478;1742501;2127998;2128812;2217100;5111567 CALCA_3026;D11S4427;G06648;G42969;GDB:197828;STS-X15943 CALC1;CGRP;CGRP-I;CGRP1;CT;KC;MGC126648 OTTHUMP00000216318;OTTHUMP00000216319;OTTHUMP00000216320;OTTHUMP00000216321;alpha-type CGRP;calcitonin;calcitonin 1;calcitonin gene-related peptide 1;calcitonin gene-related peptide I;calcitonin/calcitonin-related polypeptide, alpha;calcitonin; calcitonin gene-related peptide 1;katacalcin APPROVED protein-coding ENSG00000110680 1437 00238 114130 REVIEWED 731363 CALB2 calbindin 2 This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] 16 16 q22.2 69950127 69981842 + 71392616 71424341 + 1580863;2315881;6480464;7204685 18604736;20943758 18029348;19435792;18992917;18801393;18297277;18269580;18223328;18214032;18189312;18091323;17535091;16415795;16289944;15950053;15489334;15285029;12542677;12477932;7643192;7607211;2618861;2001709;1906795;12359331;12064772;12051635;11642722;10942575;9452956;9370058;8125298;20509881;20576695;16270201;16344560;19450707;19550372;19648883;19854615;19998412;20138841;20175889;2071140;2612220;8889548;22796338;22555304;22891683;21629658;23075894;22360420;22272358;22020045;21139048;22011651;22343111;23033479 794 A6NER6;H3BMN5;H3BN14;P22676 ABBA01016777;ABBA01032109;ABBA01032110;AC106736;AK222495;AK222648;AK291096;AMYH01007787;BC015484;BM664507;BX116479;CH471166;DA060805;NM_001740;NM_007088;NR_027910;X56667;X56668 AAH15484;BAD96215;BAD96368;BAF83785;CAA39991;CAA39992;EAW59240;EAW59241;EAW59242;EAW59243;EAW59244;NP_001731;NP_009019;P22676 Hs.106857 1341076;1741349;1763963;2134515 D16S681;GDB:180914;SHGC-11961;SHGC-147616 CAB29;CAL2;CR 29 kDa calbindin;OTTHUMP00000174922;calbindin 2;calbindin 2, (29kD, calretinin);calbindin 2, 29kDa (calretinin);calbindin D29K;calretinin APPROVED protein-coding ENSG00000172137 1435 00230 114051 REVIEWED 731717 CALCOCO1 calcium binding and coiled-coil domain 1 12 12 12 q13.13 53754817 53771222 - 52391169 52407486 - 54104902 54121307 - 5128512;6480464 16394250 19183483;19165232;16931570;16713569;16381901;16344560;16344550;16189514;15851553;15522220;15489336;14702039;12975309;12601173;12477932;11256614;11230166;11076863;10819331;8125298;16169070;20211142;16717280;21832049;18029348;20360068;19953087 57658 F8VPN1;F8VQE3;F8VRQ9;F8VUB3;F8VWP8;F8VXS2;F8VZI3;F8W0X2;H3BRW8;Q9P1Z2 AB040969;ABBA01008358;ABBA01008359;AC076968;AF370415;AK027881;AK092788;AK122773;AK222646;AK294424;AK296497;AK309199;AK315578;AL136895;AMYH01004483;AY211909;AY358397;AY563137;BC003177;BX538208;CD723746;CH471054;CR533567;DB060684;NM_001143682;NM_020898;NR_026554 AAH03177;AAO65163;AAQ15251;AAQ88763;AAT68474;BAA96060;BAB55428;BAG52609;BAG53720;BAG57671;BAG59131;CAB66829;CAD98068;CAG38598;CAL38131;EAW96727;EAW96728;EAW96729;EAW96730;EAW96731;EAW96732;EAW96733;NP_001137154;NP_065949;Q9P1Z2 Hs.156667 1687219;2142302;2143136;5021680 RH8151;STS-T71651;WI-11261;ksks136 Cocoa;KIAA1536;PP13275;calphoglin OTTHUMP00000242802;OTTHUMP00000242803;OTTHUMP00000242804;OTTHUMP00000242924;OTTHUMP00000242925;calcium-binding and coiled-coil domain-containing protein 1;coiled-coil coactivator protein;coiled-coil leucine zipper coactivator 1;inorganic pyrophosphatase activator;kiaa1536 protein;sarcoma antigen NY-SAR-3 protein-coding ENSG00000012822 29306 13868 VALIDATED 1601886 CALCOCO2 calcium binding and coiled-coil domain 2 This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a receptor for ubiquitin-coated bacteria and plays an important role in innate immunity by mediating macroautophagy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 17 17 17 q21.32 43362488 43396512 + 44263371 44297228 + 46908350 46942607 + 6480464 12869526;7540613;9230084;17635994;16189514;15231748;14747555;12477932;12033769;8125298;19285159;17207965;18029348;19820708;21552525;23143396;21646350;23022382;21079414;21988832;22053931;23000965;23209807;18985028;21565611;21903422;21139048;21890473;21906983;21963094;21964925;16969126;23386746;22505724 10241 D6RBF9;D6RBI4;D6REB0;D6RF70;D6RJE7;E9PBE5;H0Y9G3;H0YBP4;I3L493;I3L4E1 ABBA01041177;ABBA01041178;ABBA01041179;ABBA01041180;AC068531;AF085965;AK222666;AK223227;AK293137;AK293329;AK298177;AK303313;AK304024;AK314796;AL042638;AL046722;AMYH01008456;AMYH01008457;BC004130;BC015893;BE315542;BG773301;BU620013;CH471109;CR456763;NM_001261390;NM_001261391;NM_001261393;NM_001261395;NM_005831;U22897 AAA75297;AAH04130;AAH15893;ADQ32739;ADZ15727;BAD96386;BAD96947;BAG37327;BAG56685;BAG56845;BAG60448;BAG64382;BAG64939;CAG33044;EAW94707;EAW94708;NP_001248319;NP_001248320;NP_001248322;NP_001248324;NP_005822;Q13137 Hs.514920 1645852;1649587;1769192;1769385;2148569;2152890;5015961 D15S1477;RH48296;SGC32799;SGC34389;SHGC-33986;STS-U22897;WI-11586 MGC17318;NDP52 OTTHUMP00000218344;OTTHUMP00000218345;OTTHUMP00000218346;OTTHUMP00000218347;OTTHUMP00000218348;OTTHUMP00000218349;OTTHUMP00000218351;antigen nuclear dot 52 kDa protein;calcium-binding and coiled-coil domain-containing protein 2;nuclear domain 10 protein 52;nuclear domain 10 protein NDP52;nuclear dot protein 52 APPROVED protein-coding ENSG00000136436 29912 06846 604587 REVIEWED 731272 CALCR calcitonin receptor This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 7 7 q21.3 92891735 93041686 - 93053799 93204042 - 704404;1580863;6480464;7240710 17714780;17709929;17487556;16713399;16412323;16363366;16280328;15966503;15929987;15860547;15856322;15670850;15490304;15489334;15279076;15155765;15086532;14614653;14583624;12905735;12853948;12771454;12690205;12565884;12531889;12517415;12477932;12375338;12016463;11858573;11560994;11464063;11353946;11298188;11136533;10865224;10570950;10385705;9817931;9571205;8143880;7961748;7789182;7733946;7720653;12383251;12397072;9694898;12147682;12821648;8078488;15563840;7619207;1331173;11250927;7588285;19453261;19255718;18676680;18622089;18240029;18923429;19170196;19445988;19447889;19625176;19692168;19903822;19946674;20424473;4961748;7769107;12036966;20961463;21033393;19913121;20654748;21462477;10882736;14722252;22335784;23202124;20869948;23137636 799 A4D1G6;F5H605;P30988;Q5ZGL8;Q659U6 AACC02000014;AB022177;AB022178;ABBA01045790;ABBA01045791;AC003078;AC005024;AJ831406;AJ831407;AK313996;AMYH01017691;AY430048;BC069611;BC075028;CH236949;CH471091;FN994993;FN994994;FN994995;FN994996;L00587;NG_013005;NM_001164737;NM_001164738;NM_001742;S77876;U26553;U26554;X69920;X82466 AAA35640;AAB83945;AAC50300;AAC50301;AAD14268;AAH69611;AAH75028;AAR06949;BAA86928;BAA86929;BAG36708;CAA49541;CAA57849;CAH40796;CAH40797;CBN80565;CBN80566;CBN80567;CBN80568;EAL24142;EAW76813;EAW76814;NP_001158209;NP_001158210;NP_001733;P30988 Hs.489127 1721791;1786260;1857176;2110295;2146322;2169611;2182509 CALCR;CALCR_3944;D7S2736;G59766;GDB:1317880;GDB:1317942;SHGC-144374 CRT;CT-R;CTR;CTR1 CT-R;OTTHUMP00000162535;OTTHUMP00000208683;OTTHUMP00000208686;calcitonin receptor 1643401 BMD1_H APPROVED protein-coding ENSG00000004948 1440 00239 114131;166710 REVIEWED 1345562 CALM1P1 calmodulin 1 (phosphorylase kinase, delta) pseudogene 1 X X X q21.33 95279440 95279547 + 94641463 94641570 + 94754807 94754914 + 7925473;2885258 802 ABBA01064717;AL022161;AMYH01022693;NG_001089;U12435 1702076 DXS1398 CALML1 pseudo 1443 INFERRED 1603161 CALHM1 calcium homeostasis modulator 1 This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in some populations, but the pathogenicity of this polymorphism is unclear.[provided by RefSeq, Mar 2010] 10 10 q24.33 105203134 105208635 - 105213144 105218648 - 6480464 18585350;19070563;19038093;18667147;15489334;15164054;12477932;20534741;20574532;20592574;20634593;19191331;19191332;19472444;19545933;19655363;19944073;20005921;20061624;20164573;20164592;20164602;20847397;22874670;21439911;21574960;21378601;21629967;23467090;23300080 255022 Q8IU99 ABBA01063099;AL139339;AMYH01003026;BC036193;BC036208;CH471066;NG_016855;NM_001001412 AAH36193;AAH36208;ADZ15984;EAW49632;NP_001001412;Q8IU99 Hs.680365 1782028 SHGC-149649 FAM26C;MGC39514;MGC39617 OTTHUMP00000020413;calcium homeostasis modulator protein 1;family with sequence similarity 26, member C APPROVED protein-coding ENSG00000185933 23494 16879 612234 REVIEWED 1353740 CALM2P1 calmodulin 2 pseudogene 1 17 17 17 q24.3 64809189 64810303 + 65749159 65749497 + 68237388 68238519 + 2717417 100128390 ABBA01028923;AC005242;AMYH01008599;NG_002716;X13907 1742223 GDB:193857 pseudo 1446 INFERRED 1347189 CALHM3 calcium homeostasis modulator 3 10 10 10 q24.33 98972496 98978932 - 105222551 105228981 - 105232561 105238997 - 18585350;15489334;15164054;12477932;16385451;20164573 119395 Q86XJ0 ABBA01063099;AL139339;AMYH01003026;BC039499;BC043367;NM_001129742 AAH39499;AAH43367;ADR82711;NP_001123214;Q86XJ0 Hs.364624 FAM26A;bA225H22.7 OTTHUMP00000020410;calcium homeostasis modulator protein 3;family with sequence similarity 26, member A protein-coding ENSG00000183128 23458 13300 VALIDATED 1344159 CALM1P2 calmodulin 1 (phosphorylase kinase, delta) pseudogene 2 7 7 7 p11.2 55430633 55431016 - 55294905 55295288 - 55327411 55327794 - 7925473 804 AACC02000090;ABBA01011850;AC073324;AMYH01017268;CH236957;NG_001090;U12475 pseudo 1444 INFERRED 1350868 CALM2P3 calmodulin 2 pseudogene 3 13 13 13 q14.11 22802541 22803177 - 40640529 40643941 - 41744724 41745342 - 1999288 807 ABBA01021276;AL354696;AMYH01005061;NG_004858;X52956 pseudo 1448 INFERRED 1344512 CALM2P2 calmodulin 2 pseudogene 2 10 10 10 q22.1 65202461 65203593 + 71593347 71593991 + 71923365 71924497 + 1999288 806 ABBA01019620;AL731540;AMYH01002811;NG_001091;X52955 pseudo 1447 INFERRED 1352091 CALML1 calmodulin-like 1 809 1450 5129008 CALM2P4 calmodulin 2 pseudogene 4 13 13 q32.2 80137079 80137577 - 99293063 99293561 - 643193 ABBA01027136;AL356423;AMYH01005323;NG_011335 2144817 G17682 pseudo 39661 INFERRED 7175949 CALML3-AS1 CALML3 antisense RNA 1 10 p15.1 5557803 5558553 - 16344560 100132159 ABBA01034777;AK128534;AL732437;AMYH01002002;DA220455;DA770774;XR_158859;XR_159195;XR_171832 BAC87486 Hs.239600;Hs.678826;Hs.738690 miscrna 44682 MODEL 1317957 CALHM2 calcium homeostasis modulator 2 10 10 10 q24.33 98946475 98952094 - 105196536 105202065 - 105206543 105212162 - 1580863;6480464 18585350;16344560;15489334;15164054;14702039;12477932;9110174;8619474;16385451;20164573 51063 Q9HA72 ABBA01063099;ABBA01063100;AF131810;AK022195;AL139339;AMYH01003026;BC000039;CA432041;CH471066;DB109582;NM_015916;NR_024552;NR_046344 AAD20050;AAH00039;BAB13983;EAW49633;EAW49634;EAW49635;EAW49636;EAW49637;EAW49638;NP_057000;Q9HA72 Hs.241545 1661779;1681967;1771680;1848742;2168329 D10S1325E;D10S2276;NIB223;RH11327;RH92378 FAM26B OTTHUMP00000020411;OTTHUMP00000020412;calcium homeostasis modulator protein 2;family with sequence similarity 26, member B protein-coding ENSG00000138172 23493 13301 612235 VALIDATED 735369 CALM1 calmodulin 1 (phosphorylase kinase, delta) This gene encodes a member of the EF-hand calcium-binding protein family. It is one of three genes which encode an identical calcium binding protein which is one of the four subunits of phosphorylase kinase. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 14 14 q32.11 89933126 89944363 + 90863327 90874619 + 1300048;2305981;6480464;6892953;6484113;6907045;7204676;7204677;7240705;7240708 10487978;21216827;10884684;18083096;22717267;23091085 22295092;19080622;19034380;19023099;18940010;18452398;18178620;18001530;17975119;17884685;17654480;17580302;17569884;16627785;16613843;16359877;16344560;16299511;16258073;16154564;16127172;16084495;16030015;16013055;15902271;15817490;15806159;15746192;15746150;15670850;15632291;15583004;15522886;15316014;15229223;15147735;15104175;15087444;14613930;14594800;14551202;12925680;12821674;12808128;12805215;12727204;12724311;12715898;12626507;12556500;12509414;12477932;12475216;12446675;12408866;12358748;12223552;12153558;12135876;12051765;12034722;12032157;12006621;11984006;11981030;11953448;11827172;11741295;11736632;11585916;11457836;11448995;11395482;11323678;11278607;11248124;11178895;11171103;11054265;10899953;10893241;10860555;10852921;10816571;10757985;10748158;10747990;10692436;10681496;10547355;10488094;10416864;10411641;10333484;10088721;10075700;10075657;22437832;22451665;7525583;7490111;6847627;6385987;3472906;3350007;3111527;2507540;2487274;2455687;2223880;2161834;2123288;1790714;1660262;1544444;1520270;1332771;11072229;8312049;8226798;9282777;17046994;16229872;10625668;9658102;8862395;8780394;9362478;8573130;2062825;1872871;9096366;11847276;10827182;11734550;8626479;12221128;10823944;12809501;14695896;7559563;10026200;10026195;9952395;9923700;9837900;9822657;9753452;9728925;9681195;9512352;9490638;9374536;9341188;9278050;9202019;9188503;9115241;9092566;9009191;9003189;8901523;8900147;8824319;8769426;8756646;8670801;8663089;8639568;8625412;8486648;8314583;8206911;7947686;7925473;7887964;7836475;7642608;7593266;15048887;17314412;21145461;2853949;15746172;14960328;8872303;15664518;14985437;15494036;18768750;18989758;19133300;19596235;19615732;19667195;20468064;2445749;20562859;21047202;19855925;19913121;20628086;20738160;21124984;19658100;16522924;22044025;17942410;23106098;23159936;23370391;21439835;21555518;21640070;1519061;20618440;20705923;21664913;23019329;15990872;19358819;20103772;21167176;22996592;15161933;16051665;21730051;10880439;15840729;17568776;18070603;21901608;22266860;23040497;23388215;9677319;12202484;12626508;15851513;11397791;11807557;12594225;17379601;19614740;20639865;21726808;21963094;22100452;9242710;22009783;22009847;22323446;22342729;21372285;17696464;19322201;22588125;22779921;16338416;16512683;18567582;23455922;23552119;7607248;23322042;23398456;23662433;12901717;16760425;21150319;21988832;23152621;23235156;23438482;23300090;23285036;23457304;22767601;22801425;12610000;22856685;22939629;11811958;16051151;17202341;18370588;18553937;20012528;20488189;20876399;20946164;20956522;21102557;21799007;22004035;22363329;22505724;22768143;22803592;9774336 801 B4DJ51;E7ETZ0;G3V226;G3V361;G3V479;Q96HK3;Q96HY3 ABBA01030501;AC006536;AI651063;AK289937;AL512791;AMYH01005946;AU122722;AY189287;BC000454;BC007965;BC008597;BC011834;BC042831;BC047523;BT006818;BX479707;BX482177;BX537677;BX648223;CH471061;M27319;NG_013338;NM_006888;U12022;U16850;U16851 AAA35635;AAB60644;AAD45181;AAH00454;AAH07965;AAH08597;AAH11834;AAO86731;AAP35464;BAF82626;EAW81427;EAW81428;NP_008819;P62158 Hs.282410 1658699;1666022;1712188;1730279;1730341;1772524;1788760;1790313;2116051;2116053;2130182;2134446;2144055;2150520;2159826;2184383;2190511;5016476;5017841;7184691;7184708;7186388 1928;CALM1;D14S1231;D14S642E;D14S89E;D14S901;D14S98E;EST13B3;G06214;G54145;GDB:433805;IB3608;RH11167;RH11243;RH130082;RH70561;SHGC-30527;SSC3C06;WI-18834 CALM2;CALM3;CALML2;CAMI;CPVT4;DD132;PHKD;caM OTTHUMP00000244938;OTTHUMP00000244939;OTTHUMP00000244940;OTTHUMP00000244941;OTTHUMP00000244942;caM;calmodulin;calmodulin 1;phosphorylase kinase, delta subunit;prepro-calmodulin 1 APPROVED protein-coding ENSG00000198668 1442 00241 114180;614916 REVIEWED 730856 CALD1 caldesmon 1 This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 7 7 q33 134114711 134306014 + 134464164 134655480 + 1580863;2314036;6480464 10644879 1555769;16130169;18772142;18353764;17631293;17582218;17081983;16800003;16115893;15958622;15521070;15489334;15456752;15226374;15161654;15047636;14702039;12613668;12477932;11996092;11894847;11759055;11736632;11098082;10919986;10766836;10559276;9415999;9003189;8889548;8581978;8307018;1885618;1601129;1465449;14627618;15146197;16344560;18029348;19582387;19764806;19834610;19889635;20379614;21131830;20801058;19875381;21184254;20811636;21626272;22863883;22939629;20360068;21738699;21139048;22316291;16009940;21044950;17620599;23000965;23265641;23398456 800 C9J813;C9JE79;C9JEK3;E7EX44;E9PGZ1;F5H1Z9;F8WE61;Q05682 AACC02000025;AB062484;ABBA01001111;ABBA01001112;AC019014;AC083870;AF247820;AF315788;AI926727;AJ223812;AK021691;AK022222;AK022456;AK289686;AK298524;AK300282;AK304729;AL601004;AMYH01017954;AU134367;BC005006;BC014035;BC015839;BC040354;BC061926;BF675655;BF965359;BQ010124;BU683034;BX538339;BX640946;BX648808;BX649088;CA433571;CA447404;CD359921;CH236950;CH471070;CK821334;CN314587;CS158819;CV573441;D90452;D90453;DA323544;DA546174;DB090561;M64110;M83216;NG_029186;NM_004342;NM_033138;NM_033139;NM_033140;NM_033157 AAA35636;AAA58419;AAA58420;AAF69498;AAH05006;AAH14035;AAH40354;AAH61926;BAA14418;BAA14419;BAB93509;BAF82375;BAG60727;BAG65492;BAH13250;CAD98104;CAI46261;CAJ29926;EAW83826;EAW83827;EAW83828;EAW83830;EAW83831;EAW83832;EAW83833;EAW83834;EAW83835;NP_004333;NP_149129;NP_149130;NP_149131;NP_149347;Q05682 Hs.490203 1648656;1648658;1664666;1673991;1701272;1706652;1768782;1846672;1853386;2121980;2131009;2168056;2178415;2178417;5022578;5024039;5024547;5037552 A005L07;CALD1;D16S325;D1S1423;D1S3698;D7S2330;D7S2751;D8S2279;G20301;GDB:1317196;GDB:4585525;RH104265;RH11457;RH16186;SHGC-34706;SHGC-82810;WI-17596;WI-9105 CDM;H-CAD;HCAD;L-CAD;LCAD;MGC21352;NAG22 OTTHUMP00000207948;OTTHUMP00000207949;OTTHUMP00000207950;OTTHUMP00000207952;OTTHUMP00000207953;OTTHUMP00000207954;OTTHUMP00000207955;OTTHUMP00000214473;caldesmon APPROVED protein-coding ENSG00000122786 1441 00251 114213 REVIEWED 1344788 CALML4 calmodulin-like 4 15 15 15 q23 45367956 45383362 - 66270097 66285502 - 68483043 68498448 - 6480464 16344560;14702039;12747765;12477932;23377640 91860 H3BM27;H3BM29;H3BS46;Q6MZY3;Q96GE6 ABBA01038785;AC107871;AF308287;AK092628;AK296804;AMYH01006736;BC009516;BC015215;BX640702;BX640817;CH471082;DB204573;NM_001031733;NM_033429 AAG48255;BAG59377;CAE45822;CAE45894;EAW77808;EAW77809;EAW77810;NP_001026903;NP_219501;Q96GE6 Hs.709550 1647814;1684345;2109165;2161399;2161627 CLN6_9860;RH91440;STS-N52768;STS-W81097;WI-18401 MGC4809;NY-BR-20 OTTHUMP00000164388;OTTHUMP00000194712;calmodulin-like protein 4;serologically defined breast cancer antigen NY-BR-20 protein-coding 18445 12998 VALIDATED 1346825 CALML6 calmodulin-like 6 1 1 1 p36.33 746319 748788 - 1836126 1838593 + 1846266 1848733 + 1580863;6907045 16710414;15621662;12477932;18029348 163688 B1AKR1;Q8TD86 ABBA01016077;AF490905;AL109917;AMYH01000160;AY566229;BC053567;CH471183;NM_138705 AAI60060;AAM08411;AAS67001;EAW56144;EAW56145;EAW56146;NP_619650;Q8TD86 Hs.85902 CAGLP EF-hand protein;OTTHUMP00000001117;OTTHUMP00000179025;calglandulin-like protein;calmodulin-like protein 6 protein-coding ENSG00000169885 24193 12997 610171 VALIDATED 1313562 CALML3 calmodulin-like 3 10 10 p15.1 5556924 5558225 + 5566924 5568225 + 1580863;6480464;6907045 8428750;19166543;18818677;17130134;16189514;15489334;15164054;12477932;12067719;11426940;11278607;8507643;8476923;3181418;2217169;1334432;16385451;19615732;22145905;21044950 810 P27482 ABBA01034777;AK313934;AL732437;AMYH01002002;BC031889;CH471072;FB335818;HH767157;M36707;M58026;NM_005185;X13461 AAA36356;AAH31889;ABM82702;ABM85886;BAG36653;CAA31809;CAR80870;CBX84343;EAW86443;NP_005176;P27482 Hs.239600 1743153 GDB:277110 CLP OTTHUMP00000019004;caM-like protein;calmodulin-like protein 3;calmodulin-related protein NB-1 protein-coding ENSG00000178363 1452 00244 114184 VALIDATED 736342 CALM2 calmodulin 2 (phosphorylase kinase, delta) 2 2 p21 47240809 47257154 - 47387221 47403740 - 1300048;2305981;6480464;6484113;6892958;6907045;7204676;7204677;7240705;7240708 10487978;22885997;10884684;18083096;22717267;23091085 17687619;16545345;16189514;15723066;15632291;15342556;15225611;14702039;14613930;12577052;12477932;12221128;12189141;12153558;12051765;12032157;11981030;11953448;11741295;11736632;11591728;11054265;10899953;10823944;10816571;10757985;10692436;10416864;9923700;9681195;9278050;9242710;8314583;8076819;3111527;2445749;2223880;11072229;8312049;21145461;8226798;9282777;17046994;16229872;10625668;9658102;8862395;8780394;9362478;8573130;9096366;11847276;16169070;21546767;19584346;20198394;20379146;20379614;16127172;21047202;19913121;20628086;17189291;21139048;21565611;21890473;21906983;21987572;21988832;22053931;22633975;23000965;23349634;23388215;23798571;22939629;20000738;10075700;16051665;20639865;21078624;21726808;21963094;22331908;22323446;17202341;18370588;18553937;20012528;20876399;20956522;21799007;22505724 805 B4DJ51;E7EMB3;F8WBR5;H0Y7A7;Q96HK3 ABBA01075153;AC073283;AI873701;AK055130;AK315694;AMYH01010321;AMYH01010322;BC003354;BC006464;BC008437;BC017385;BC018677;BC026065;BC047553;BP370358;BT009916;CH471053;CR541990;CR542021;D45887;M19311;NM_001743;U94725;U94726;U94727;U94728 AAA35641;AAC83174;AAH03354;AAH06464;AAH08437;AAH17385;AAH18677;AAH26065;AAP88918;AAY24085;BAA08302;BAG38057;CAG46787;CAG46818;EAX00220;EAX00221;EAX00222;EAX00223;NP_001734;P62158 Hs.468442 1742223;1746043;2121606;2158019 GDB:193857;RH125634;SHGC-30221;WI-9106 CALM1;CALM3;CAMII;FLJ99410;PHKD;PHKD2 LP7057 protein;OTTHUMP00000159070;OTTHUMP00000202341;OTTHUMP00000202343;caM;calmodulin;phosphorylase kinase delta;prepro-calmodulin 2 protein-coding ENSG00000143933 1445 00242 114182 VALIDATED 3399173 CALR4P calreticulin 4, pseudogene 1 1 1 p32.3 50306918 50334964 + 51789483 51833259 - 52020400 52035422 - 6480464 20210993 441884 ABBA01074794;AC104170;AL772260;AMYH01000616;NG_021361 pseudo 35456 INFERRED 1320724 CALML5 calmodulin-like 5 This gene encodes a novel calcium binding protein expressed in the epidermis and related to the calmodulin family of calcium binding proteins. Functional studies with recombinant protein demonstrate it does bind calcium and undergoes a conformational change when it does so. Abundant expression is detected only in reconstructed epidermis and is restricted to differentiating keratinocytes. In addition, it can associate with transglutaminase 3, shown to be a key enzyme in the terminal differentiation of keratinocytes. [provided by RefSeq, Jul 2008] 10 10 10 p15.1 5471713 5472588 - 5530660 5531510 - 5540658 5541533 - 1580863;6480464;6907045 10777582;17353931;16765896;16689864;15489334;12477932;11969404;11407979;8125298;21145461;19615732;16196087;21139048;22145905;16934469 51806 Q53H37;Q9NZT1 ABBA01034777;AF172852;AK222744;AL732437;AMYH01002002;BC039172;CH471072;NM_017422 AAF66821;AAH39172;ADZ15995;BAD96464;EAW86444;NP_059118;Q9NZT1 Hs.180142 CLSP OTTHUMP00000019005;calmodulin-like protein 5;calmodulin-like skin protein APPROVED protein-coding ENSG00000178372 18180 05538 605183 REVIEWED 737387 CALM3 calmodulin 3 (phosphorylase kinase, delta) 19 19 q13.2-q13.3 51796352 51805879 + 47104512 47114039 + 1300048;2305981;6480464;6484113;6907045;7204676;7204677;7240705;7240708 10487978;10884684;18083096;22717267;23091085 15632291;2223880;9681195;11984006;7607248;10899953;16760425;9188442;9580552;10781589;19429631;18768750;16299511;15815621;15746192;15719022;15592455;15489334;15140941;14702039;14613930;12871148;12577052;12508121;12485993;12477932;12153558;12051765;12032157;11981030;11953448;11807546;11741295;11736632;11710561;11685248;11591728;11054265;10816571;10757985;10737800;10692436;10416864;9927666;9923700;9804419;9278050;8476923;8314583;7925473;7803388;7093203;6385987;3182832;3111527;2445749;2244899;1474585;11072229;8312049;8226798;9256481;17046994;16229872;10625668;9658102;8862395;8780394;9362478;8573130;9096366;11847276;11278607;17353931;21145461;10373510;10823944;11286509;11448995;12189141;12221128;12821674;14594800;14622581;14627618;14630798;14701808;14960328;15032605;15723066;16127172;16169070;16189514;17620599;17719545;19001277;20379146;6330098;6457647;8615909;8702940;9242710;10880439;19913121;20628086;21047202;22939629;21078624;21980498;20639865;21726808;21906983;21963094;21987572;19322201;22323446;18370588;18553937;19380743;20012528;20876399;20956522;21799007;22505724;18567582;8631777;23128233 808 B4DJ51;M0QZ52;Q96HK3;Q96HY3;Q9BRL5 ABBA01040980;AC093503;AK094964;AK295927;AK310762;AL050207;AMYH01009867;AW883334;BC005137;BC006182;BG753029;BT006855;CH471126;J04046;NM_005184;X52606;X52608 AAA51918;AAH05137;AAH06182;AAP35501;BAG58713;CAA36839;EAW57425;EAW57426;EAW57427;EAW57428;EAW57429;NP_005175;P62158 Hs.515487 2115359;2183963;2189473 MARC_7076-7077:992008234:1;NIB1538;RH11519 CALM1;CALM2;PHKD;PHKD3 OTTHUMP00000164793;OTTHUMP00000164794;caM;calmodulin;calmodulin 3;prepro-calmodulin 3 protein-coding ENSG00000160014 1449 00243 114183 VALIDATED 1314120 CALN1 calneuron 1 This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 7 7 7 q11 64619023 65251883 - 70882412 71515296 - 71244476 71877360 - 1580863;6480464 19338761;16344560;15489334;12853948;12690205;12477932;11286509;9847074;9110174;8619474;14702039;22837378;20379614;21926974 83698 A4D1Z1;E9PFU3;Q9BXU9 AACC02000048;AACC02000049;ABBA01063998;ABBA01063999;ABBA01064000;ABBA01064001;ABBA01064002;ABBA01064003;ABBA01064004;ABBA01064005;ABBA01064006;ABBA01064007;ABBA01064008;ABBA01064009;ABBA01064010;ABBA01064011;ABBA01064012;ABBA01064013;ABBA01064014;ABBA01064015;AC004845;AC004905;AC005011;AC006334;AC067941;AC092424;AC092785;AF282250;AK091485;AK094469;AK123862;AK313054;AL117636;AMYH01017527;AMYH01017528;AMYH01017529;AY007302;AY726595;BC020200;BG718538;CH236952;CH471140;DA101934;DA150825;DA805580;NM_001017440;NM_031468 AAG09620;AAH20200;AAK15155;AAP21872;AAP21889;AAS02041;AAS07466;AAS07507;ABM83066;ABM86260;BAG35885;BAG53974;EAL23970;EAX07901;EAX07902;NP_001017440;NP_113656;Q9BXU9 Hs.592750 1334667;1337127;1340458;1341086;1342170;1645683;1645685;1659733;1660782;1662784;1667776;1667923;1667925;1696488;1725549;1735714;1740009;1768597;1770506;1777189;1851919;1857574;2114152;2122357;2124026;2129966;2131898;2133684;2136500;2137329;2143861;2144400;2145591;2156358;2160406;2161619;2168783;2171267;2175424;7183772;7185353;7185430;7185497;7185536;7186011;7186154;7186740 A005B02;A006A08;A006O39;A007B21;D7S1483;D7S1497;D7S1499;D7S1511;D7S1607;D7S1776;D7S1816;D7S1843;D7S2025;D7S2161E;D7S2169E;D7S2393;D7S2415;D7S2633;D7S2933;D7S653;D7S672;G17123;G20236;G20644;GDB:1234276;GDB:1317540;GDB:1317622;GDB:1318633;GDB:3754362;GDB:3755065;RH119173;RH11992;RH44479;SHGC-32199;SHGC-4640;SHGC-79816;WI-19877;WI-21143;WI-21173 CABP8 OTTHUMP00000160216;OTTHUMP00000198477;OTTHUMP00000198493;OTTHUMP00000210382;OTTHUMP00000210383;calcium-binding protein 8;calcium-binding protein CABP8;calneuron I;calneuron-1 APPROVED protein-coding ENSG00000183166 13248 06209 607176 VALIDATED 1601759 CALY calcyon neuron-specific vesicular protein The protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinergic or muscarinic but not beta-adrenergic receptors. The encoded protein interacts with D1 dopamine receptor and may interact with other DA receptor subtypes and/or GPCRs. [provided by RefSeq, Jul 2008] 10 10 q26.3 134988923 135000401 - 135138928 135150475 - 6480464 16595675;14534309;19352218;17885599;17623072;17081983;16172615;15489334;14755439;12477932;11583808;20602615;16385451;20468064;21415033;22843680 50632 Q9NYX4 ABBA01006212;AF225903;AL360181;AMYH01003235;AMYH01003236;AMYH01003237;BC038978;BI914942;BP392207;CH471211;NM_015722 AAF34714;AAH38978;EAW61334;EAW61335;NP_056537;Q9NYX4 Hs.148680 DRD1IP;NSG3;RP11-122K13.5 D1 dopamine receptor-interacting protein;OTTHUMP00000020793;OTTHUMP00000020795;calcyon D1 dopamine receptor-interacting protein (CALCYON);calcyon protein;dopamine receptor D1 interacting protein;neuron-specific vesicular protein calcyon APPROVED protein-coding ENSG00000130643 17938 06871 604647 VALIDATED 731618 CAMK1 calcium/calmodulin-dependent protein kinase I Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008] 3 3 p25.3 9774031 9786661 - 9799029 9811668 - 1580863;6480464 9395448;7641687;19086053;18089838;15680915;15489334;15367659;15251453;14754892;14507913;12935886;12665801;12630910;12539042;12477932;12475216;12237306;12193581;11395482;11114197;11081517;10874031;10571231;10400690;10187789;9822657;9705275;9662074;8384217;7559563;1375933;21249615;19844571;20468064;19913121;20628086;15166223;16767219;21832049;17442826;18184567;21791615;21139048;22318606;19100722;20433920;23028635 8536 B0YIY3;C9JES6;F8W6S9;H7C071;Q14012 AA724193;AB451277;AB451407;ABBA01020400;AC022382;AK314917;AMYH01012964;BC106754;BC106755;BI546222;CH471055;DN990042;EF444963;L41816;NM_003656 AAA99458;AAI06755;AAI06756;ACA05961;ACE87772;ACT64438;BAG37428;BAG70091;BAG70221;EAW63989;EAW63990;EAW63991;EAW63992;EAW63993;NP_003647;Q14012 Hs.434875 1658025;1709002;1788118;2131591;2159032 G67289;RH78923;SHGC-76687;SHGC-76689;SHGC-79567 CAMKI;MGC120317;MGC120318 OTTHUMP00000158527;caM kinase I alpha;caM-KI;caMKI-alpha;calcium/calmodulin-dependent protein kinase type 1;regulator of g-protein signalling 19 APPROVED protein-coding ENSG00000134072 1459 05412 604998 REVIEWED 731575 CALR calreticulin Calreticulin is a multifunctional protein that acts as a major Ca(2+)-binding (storage) protein in the lumen of the endoplasmic reticulum. It is also found in the nucleus, suggesting that it may have a role in transcription regulation. Calreticulin binds to the synthetic peptide KLGFFKR, which is almost identical to an amino acid sequence in the DNA-binding domain of the superfamily of nuclear receptors. Calreticulin binds to antibodies in certain sera of systemic lupus and Sjogren patients which contain anti-Ro/SSA antibodies, it is highly conserved among species, and it is located in the endoplasmic and sarcoplasmic reticulum where it may bind calcium. The amino terminus of calreticulin interacts with the DNA-binding domain of the glucocorticoid receptor and prevents the receptor from binding to its specific glucocorticoid response element. Calreticulin can inhibit the binding of androgen receptor to its hormone-responsive DNA element and can inhibit androgen receptor and retinoic acid receptor transcriptional activities in vivo, as well as retinoic acid-induced neuronal differentiation. Thus, calreticulin can act as an important modulator of the regulation of gene transcription by nuclear hormone receptors. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin but calreticulin is not a Ro/SS-A antigen. Earlier papers referred to calreticulin as an Ro/SS-A antigen but this was later disproven. Increased autoantibody titer against human calreticulin is found in infants with complete congenital heart block of both the IgG and IgM classes. [provided by RefSeq, Jul 2008] 19 19 p13.3-p13.2 12910423 12916303 + 13049414 13055304 + 1580863;704416;2326172;2326165;6480464;6907045;7204686 11907032;18563736;15289361;20356453 11149926;8107809;15474971;11842004;1911778;14726956;12242300;17563366;10581245;16130169;8107808;19580784;19470730;19154346;19100874;19054761;19050968;18925427;18791162;18653767;18641393;18559259;18417548;18221019;18177377;8006073;7923996;7876246;7622522;7592883;7559457;3260607;2400400;2365822;2332496;1939344;1919005;1733953;1286669;1286667;17353931;11765911;12052826;18022694;17982021;17959730;17947714;17655857;17499031;17390051;17009399;16974078;16951317;16951181;16542777;16527813;16522185;16236267;16140380;15952740;15893733;15855281;15634883;15596044;15494401;15489334;15383281;15371419;15351734;15236594;15057824;14985176;14980518;14732231;14624761;12821648;12740382;12704787;12646570;12584332;12538033;12477932;12397072;12383251;12362238;12324449;12239218;12235131;12196561;12147682;12065601;11891802;11825569;11378243;11327697;11322874;10887119;10547375;10513896;10508608;10436013;10364189;10358038;9988700;9693955;9671507;9545232;9525969;9359841;9312001;9150948;9089287;9036970;8910335;8904349;8805302;8769474;8662691;8550632;8537405;8418194;8125298;8062452;8050453;22024156;22511615;22844112;10929008;18303019;18795239;20929309;20480531;20699648;20855873;17055437;17215244;18765291;18801343;19524015;19567621;19608864;19684620;7841019;8666824;16522924;21115737;19760677;20861015;19913121;20624402;20628086;19659458;20533543;11859136;21178137;21075854;20834237;21142150;22863883;9427624;21423620;21447409;15998798;23464991;23564462;23667531;20000738;21652723;21182888;21139048;21693764;21890473;21906983;21911577;18029348;21996511;20360068;21723904;21900206;22079093;22492046;22377355;22429966;22507216;22586326;19322201;22083347;22415851;22661095;22915645;22939629;21319273;22415225;12047747;23587357;23222517;10198260;23334957;22304920;23000965;23233327;22174317;22190034;22242185;22773372;22952844 811 K7EJB9;K7EL50;K7ELE2;K7EM77;P27797 AB451408;ABBA01029763;AC092069;AD000092;AF087986;AK130190;AK223060;AK295230;AK304492;AMYH01009497;AY047586;BC002500;BC007911;BC020493;BC107102;BT007448;CH471106;CR457070;CS288581;JA462404;M32294;M84739;NG_029662;NM_004343 AAA36582;AAA51916;AAB51176;AAH02500;AAH07911;AAH20493;AAL13126;AAP36116;BAD96780;BAG58223;BAG65301;BAG70222;CAG33351;CAK18761;CCD35250;EAW84330;EAW84331;EAW84332;NP_004334;P27797 Hs.515162 2134870;2217102 CALR_3945;STS-M84739 CRT;FLJ26680;RO;SSA;cC1qR CRP55;ERp60;HACBP;Sicca syndrome antigen A (autoantigen Ro; calreticulin);autoantigen Ro;calregulin;calreticulin;endoplasmic reticulum resident protein 60;grp60 APPROVED protein-coding ENSG00000179218 1455 00169 109091 REVIEWED 1319475 CALR3 calreticulin 3 The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011] 19 19 19 p13.11 16491740 16508840 - 16450887 16468003 - 16589868 16607003 - 1580863;6480464 12384296;17975137;15489334;15342556;14702039;12477932;16159877;21590275 125972 M0R0Y8;Q96L12 AA724299;AA910019;AB576176;ABBA01051147;ABBA01051148;AC008764;AK058084;AMYH01009562;BC014595;BP370084;CH471106;CS288583;DB459545;DB510196;NG_031959;NM_145046 AAH14595;ABM81829;ABM84982;BAB71655;BAJ14705;CAK18762;EAW84546;NP_659483;Q96L12 Hs.304020 CMH19;CRT2;CT93;FLJ25355;MGC26577 calreticulin 2;calreticulin-2;calreticulin-3;calsperin;cancer/testis antigen 93 APPROVED protein-coding ENSG00000269058 20407 12999 611414;613875 REVIEWED 1603628 CAMK1D calcium/calmodulin-dependent protein kinase ID This gene encodes a member of the Ca2+/calmodulin-dependent protein kinase 1 subfamily of serine/threonine kinases. The encoded protein may be involved in the regulation of granulocyte function through the chemokine signal transduction pathway. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] 10 10 p13 12431589 12911741 + 12391583 12871735 + 6480464 11264466;19383354;19324937;19139842;19020324;19020323;18372903;15840691;15489334;15164054;12935886;12477932;11050006;20571754;20677014;16385451;18029348;19602701;19670153;19720844;19741467;19794065;19833888;19933996;20080650;20161779;20379614;20418484;20862305;20712903;20879858;20889853;20927120;21832049;22923468;16324104;17056143;23824909;22863883;23568457;19953087;21909839;21044950;21988832;23251661;23459443 57118 Q5SQQ7;Q8IU85 AB081726;ABBA01034637;ABBA01034638;ABBA01034639;ABBA01034640;ABBA01034641;ABBA01034642;ABBA01034643;ABBA01034644;ABBA01034645;ABBA01034646;ABBA01034647;ABBA01034648;ABBA01034649;ABBA01034650;ABBA01034651;ABBA01034652;AF286366;AI821714;AK289393;AL391314;AL512284;AL512783;AL603717;AL731559;AMYH01002033;AMYH01002034;AMYH01002035;AMYH01002036;AMYH01002037;BC035745;BQ059621;BU542765;CH471072;EF444962;HH961742;NM_020397;NM_153498 AAG00534;AAH35745;ABM83390;ABM86602;ACA05958;ACA05959;ACA05960;BAC19846;BAF82082;CBX51344;EAW86314;EAW86315;EAW86316;NP_065130;NP_705718;Q8IU85 Hs.659517 1299918;1334518;1336187;1648563;1655838;1674492;1708180;1709808;1730277;1754025;1757919;1764799;1765995;1777671;1779344;1781966;2141195;2179457;5022322;7184706;7186556 D10S1430;D10S1705;D10S2325;D10S2365;D10S236E;D11S2560;G17442;GDB:315097;RH47896;SHGC-132068;SHGC-141926;SHGC-146855;SHGC-148366;SHGC-149390;SHGC-153341;SHGC-32225;SHGC-6785;SHGC-79342;SHGC-84721 CKLiK;CaM-K1;CaMKID CaM kinase ID;CamKI-like protein kinase;OTTHUMP00000019119;OTTHUMP00000019120;caM kinase I delta;caM-KI delta;caMKI delta;calcium/calmodulin-dependent protein kinase type 1D APPROVED protein-coding ENSG00000183049 19341 06409 607957 REVIEWED 733017 CALU calumenin The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] 7 7 q32.1 128166672 128198764 + 128379346 128413477 + 1580863;2316232;6480464 18776587 12477932;11827452;11230166;11076863;10631319;10222138;9675259;9598325;10094503;9218460;17596133;17189218;17081983;17081065;17049586;17048007;16964243;16381901;16344560;16303743;15489336;15489334;14702039;12690205;12665801;12643545;18029348;18688696;19794411;19958090;20020283;20149073;20200517;20499136;22188360;21057703;19913121;20553802;20628086;20673165;22939629;22863883;20360068;21139048;21890473;21906983;22514732;22190034;22768251 813 B3KQF5;H0Y875;O60456;Q6IAW5 AACC02000035;ABBA01057656;AC024952;AF013759;AF257659;AF345637;AK027460;AK056338;AK074862;AK075089;AK312446;AMYH01017924;AW068942;BC013383;BF438624;BT006826;BT020143;BX091230;CH236950;CH471070;CR457039;CR541835;DA023987;DA703012;HM002604;HM002605;HM002606;HM002607;HM002609;HM002610;HM002611;HM002613;HM002615;HM002616;NG_033110;NM_001130674;NM_001199671;NM_001199672;NM_001199673;NM_001199674;NM_001219;NR_074086;U67280 AAB97725;AAC17216;AAF76141;AAH13383;AAK72908;AAP35472;AAV38945;ABM83159;ABM86360;ADG45004;ADG45005;ADG45006;ADG45007;ADG45009;ADG45010;ADG45011;ADG45013;ADG45015;ADG45016;BAG35353;BAG51328;BAG51681;BAG52017;BAG52065;CAG33320;CAG46634;CAL37464;CAL37467;CAL37505;CAL37557;CAL37588;CAL37696;CAL37834;CAL37878;CAL37907;CAL37987;CAL38060;CAL38141;CAL38267;CAL38335;CAL38634;CAL38691;EAL24113;EAW83674;EAW83675;EAW83676;EAW83677;EAW83678;EAW83679;NP_001124146;NP_001186600;NP_001186601;NP_001186602;NP_001186603;NP_001210;O43852 Hs.743262;Hs.7753 1645033;1651881;1661898;1662194;1679934;1770183;1775395;1855479;1855481;2106795;2106797;2157114;2162104;2173773;2176856;2178426;2181468;5093314;5491419 A002N36;A006B29;A009L17;G20679;G32645;MARC_11525-11526:1001518036:1;RH12835;RH44842;RH45162;RH48732;RH64944;RH66822;SHGC-35138;SHGC-52887;STS-H01049;STS-M13299;STS-N32527;UniSTS:464721;UniSTS:464722 FLJ90608 IEF SSP 9302;OTTHUMP00000212712;OTTHUMP00000212713;OTTHUMP00000212714;OTTHUMP00000212715;calumenin;crocalbin;crocalbin-like protein;multiple EF-hand protein;reticulocalbin APPROVED protein-coding 1458 04569 603420 REVIEWED 736752 CAMK2A calcium/calmodulin-dependent protein kinase II alpha The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2008] 5 5 q32 149579248 149649529 - 149599054 149669403 - 1580863;6480464;6484113;6907045;7240705;7240704 22717267;22334212 14684825;22573680;18227124;17632540;17627985;17603807;17221287;16820363;16565089;16557530;16436603;16247765;16120608;16115892;15866054;15673434;15621017;15358237;15312654;15140879;15044063;14970204;14722083;12954639;12951199;12933808;12630910;12486117;12477932;12475968;12435421;12408851;12387894;12223541;17052756;19453375;19328558;19156168;18305109;12147342;11930170;11889801;11867691;11814622;11751951;11710563;11468283;11459059;11447121;11331285;11306676;11278737;11264466;11222640;11160423;11104776;11027280;10874031;10862698;10861222;10851169;10753652;10737800;10737616;10629061;10400690;10347170;10318869;10231032;10090741;9832145;9771888;9735171;9724800;9452388;9452387;9115241;9099667;8999860;8980240;8940188;8413226;7929371;7822264;7706316;7523419;3475713;2394752;2164678;2155236;2114109;1375933;1374067;1314426;1309762;11679592;8663317;12871946;17353931;18803808;10373510;11013247;12815021;14622581;18218981;18311135;19638347;20053885;20379614;8615909;8665664;9481670;9813144;12619878;18292392;21124984;17512525;22505582;22815963;22939629;23260144;19213956;21611732;17568776;21610080;11397791;21906983;22360420;22023388;20178748;22318606;22427672;22496558;22496345;15757646;22939624;23000965;23251661;16027165;17202341;21315782;22514303 815 A8K161;D6RFJ0;D6RHX9;Q7LDD5;Q8IWE0;Q9UQM7 AB023185;ABBA01026282;ABBA01026283;AC011372;AF091486;AF145710;AF145711;AK289776;AK308853;AMYH01015706;AY429524;BC040457;BF951952;CH471062;NM_015981;NM_171825 AAD30558;AAD30559;AAD55815;AAH40457;ACE86769;ACE87455;BAA76812;BAF82465;EAW61741;EAW61742;NP_057065;NP_741960;Q9UQM7 Hs.743976 1654846;1660904;1780608;1795468;2147676;2172992;2187811;5123329 1954;CAMK2A__1170;D17S1195;G69463;RH11735;RH35759;WI-16284;bac51383T CAMKA;KIAA0968 CaM kinase II alpha subunit;CaM-kinase II alpha chain;CaMK-II alpha subunit;CaMKIINalpha;OTTHUMP00000165787;OTTHUMP00000165788;caM kinase II subunit alpha;caMK-II subunit alpha;calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha;calcium/calmodulin-dependent protein kinase II alpha-B subunit;calcium/calmodulin-dependent protein kinase type II alpha chain;calcium/calmodulin-dependent protein kinase type II subunit alpha APPROVED protein-coding ENSG00000070808 1460 06532 114078 REVIEWED 732495 CAMK1G calcium/calmodulin-dependent protein kinase IG This gene encodes a protein similar to calcium/calmodulin dependent protein kinase, however, its exact function is not known. [provided by RefSeq, Jul 2008] 1 1 1 q32.2 182987934 183018193 + 207823668 207853907 + 209757045 209787284 + 6480464 16710414;15489334;14702039;12637513;12477932;10645953;19913121;20628086;20729199;21988832;22939624;23455922;23624525;22623531;21935397 57172 C9IYV2;Q96NX5 ABBA01048215;AF428261;AK095713;AK289675;AL023754;AL049688;AMYH01001696;AY212935;BC032787;BG715920;CH471100;NM_020439 AAH32787;AAL28100;AAP29964;ABM82986;ABM86179;BAF82364;BAG53112;CAB41259;EAW93450;EAW93451;EAW93452;NP_065172;Q96NX5 Hs.199068 1734344;5110253 D1S70;L461 CLICK3;CLICKIII;VWS1;dJ272L16.1 CLICK III;OTTHUMP00000034556;OTTHUMP00000034557;OTTHUMP00000034558;caM kinase I gamma;caM kinase IG;caM-KI gamma;caMK-like CREB kinase III;caMKI gamma;caMKIG;calcium/calmodulin-dependent protein kinase type 1G APPROVED protein-coding ENSG00000008118 14585 10807 614994 REVIEWED 1602218 CAMK2N1 calcium/calmodulin-dependent protein kinase II inhibitor 1 1 1 1 p36.12 19133214 19137058 - 20681471 20685315 - 20808884 20812728 - 6480464;7240706;7240707 21070840;21301225 18305109;12650977;12477932;12175859;19322201 55450 Q7Z7J9;Q9P1J2 ABBA01059780;ABBA01059781;AL391357;AMYH01000322;AY204901;BC020630;BI820748;CH471134;DB475389;NM_018584 AAH20630;AAO49802;EAW94923;EAW94924;NP_061054;Q7Z7J9 Hs.731383 1660465;1665755;2126234;2138161;2143396 HSC1IC062;SHGC-35895;SHGC-74338;SHGC-74339;SHGC-74356 MGC22256;PRO1489;RP11-401M16.1 CaMKIINalpha;OTTHUMP00000002879;caMKII inhibitory protein alpha;caMKIIN-alpha;calcium/calmodulin-dependent protein kinase II inhibitor 1 protein-coding ENSG00000162545 24190 13112 614986 VALIDATED 732268 CAMK2N2 calcium/calmodulin-dependent protein kinase II inhibitor 2 This gene encodes a protein that is highly similar to the rat CaM-KII inhibitory protein, an inhibitor of calcium/calmodulin-dependent protein kinase II (CAMKII). CAMKII regulates numerous physiological functions, including neuronal synaptic plasticity through the phosphorylation of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate (AMPA) receptors. Studies of the similar protein in rat suggest that this protein may function as a negative regulator of CaM-KII and may act to inhibit the phosphorylation of AMPA receptors. [provided by RefSeq, Jul 2008] 3 3 3 q27.1 182417767 182420015 - 185459697 185461945 - 183977003 183979251 - 6480464;7240706;7240707 21070840;21301225 12531901;12477932;11444830;9724800;22087225;19586909;20487031;22472876;23153928 94032 Q96S95 ABBA01058450;ABBA01058451;AC061705;AC078797;AMYH01013714;AMYH01013715;AY037149;BC105077;BC105079;CH471052;NM_033259 AAI05078;AAI05080;AAK67630;EAW78280;EAW78281;NP_150284;Q96S95 Hs.585003 2112582;2169422;5493297;5493941 D3S4350;RH12612;UniSTS:480474;UniSTS:485633 CAM-KIIN;CAMKIIN CaM-KII inhibitory protein;OTTHUMP00000210693;calcium/calmodulin-dependent protein kinase II inhibitor 2 APPROVED protein-coding ENSG00000163888 24197 16377 608721 REVIEWED 1604851 CAMK2G calcium/calmodulin-dependent protein kinase II gamma The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.[provided by RefSeq, Mar 2011] 10 10 q22 75242265 75304349 - 75572259 75634349 - 6480464;6484113;6907045;7240705 22717267 9060999;9240463;11264466;19204726;19001023;18483256;18434368;17553505;17431504;17373700;17192257;17081983;17032905;16436603;16002660;15775983;15322115;15164054;14963018;14722083;14702039;14532276;12808093;12637327;12609872;12554746;12486117;12477932;12032636;11972023;11889801;11839738;11825621;11535587;11398101;11359875;11325525;11160423;11108966;11080189;11027280;10860555;10748018;10693762;10625670;10366608;10347170;10212259;9768837;9721757;9677319;9407043;9355737;9224693;9115241;8798667;8663317;8449910;8404858;8380342;8287681;8125298;7877986;7876254;7690989;7557101;7543024;6150037;3118371;2160950;1309762;11290523;20851109;10373510;11013247;12815021;14622581;16120608;16385451;18218981;18311135;19603549;19615732;19671701;19682070;19840793;20060891;20139089;20149311;8615909;8665664;9481670;22612808;19913121;20628086;21063097;21513986;22952977;15294044;17568776;21983898;22623531;23502535;23008441;18781797;21139048;21906983;22049206;22371496;21145461;22592532;22615928;11559703;22939624;23000965;23074277;9670010;22505724 818 B4DVQ3;H0Y6G2;Q13280;Q5SWX3;Q5SWX4;Q8WU40 AB209474;ABBA01020305;ABBA01020306;ABBA01020307;ABBA01020308;AC022400;AK026309;AK094774;AK095576;AK131199;AK225771;AK291704;AK301180;AL596247;AL713896;AMYH01002831;AMYH01002832;AMYH01002833;BC012795;BC021269;BC034044;BC037928;BU165166;CH471083;L07043;L07044;NG_029408;NM_001204492;NM_001222;NM_172169;NM_172170;NM_172171;NM_172173;U32472;U32473;U32509;U50359;U50360;U66063;U66064 AAA75201;AAA75202;AAA75203;AAB16864;AAB16865;AAB61379;AAB80847;AAB80848;AAH21269;AAH34044;ABM83291;ABM86500;ABM87691;BAD92711;BAF84393;BAG53089;BAG54748;BAG62765;EAW54527;EAW54528;EAW54529;EAW54530;EAW54531;EAW54532;EAW54533;EAW54534;EAW54535;EAW54536;EAW54537;EAW54538;EAW54539;EAW54540;EAW54541;EAW54542;EAW54543;NP_001191421;NP_001213;NP_751909;NP_751910;NP_751911;NP_751913;Q13555 Hs.523045 1338862;1672432;1696568;1758631;1758633;1781890;2111055;5014051;5021872;5022200;5022578;5022651;5037552;5109281;5118444 D10S1737;D10S483E;D11S2921;D11S3316;D1S1423;D1S1425;D8S2278;D8S2279;L18426;SHGC-106444;SHGC-148964;SHGC-148965;SHGC-78184;WI-12185;sY3084 CAMK;CAMK-II;CAMKG;FLJ16043;MGC26678 OTTHUMP00000019843;OTTHUMP00000019844;OTTHUMP00000019845;OTTHUMP00000019846;OTTHUMP00000019847;caM kinase II subunit gamma;caMK-II subunit gamma;calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma;calcium/calmodulin-dependent protein kinase type II subunit gamma APPROVED protein-coding ENSG00000148660 1463 03672 602123 REVIEWED 1349409 CAMKK1 calcium/calmodulin-dependent protein kinase kinase 1, alpha The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 p13.2 3710358 3743086 - 3763609 3796337 - 1580863;2311420;6480464 16054095 18270593;16741161;15489334;15324660;12935886;12628440;12477932;11574070;11230166;10833263;10560916;10187789;9705275;8621423;7642608;7615569;15591024;18695047;19247474;19520843;20106900;20453000;21832049 84254 F8W9H1;J3KPJ3;Q8N5S9 ABBA01054749;ABBA01054750;AC005940;AF370377;AF425232;AF425301;AK128601;AL136576;AMYH01008033;BC011401;BC031647;BC043487;CH471108;NM_032294;NM_172206;NM_172207 AAH31647;AAH43487;AAN37386;AAN37387;AAQ15213;ABM83347;ABM86561;CAB66511;EAW90474;EAW90475;EAW90476;NP_115670;NP_757343;NP_757344;Q8N5S9 Hs.8417 1717761;2170149;2170151;2175956;5014051;5015619;5016478;5021872;5022463;5022651;5037552;5092454 A005P11;D11S2921;D11S3114;D3S1673;D8S2278;D8S2279;G20392;G54292;GDB:434012;RH121788;SHGC-32989;sY3084 CAMKKA;DKFZp761M0423;MGC34095 CAMKK alpha protein;OTTHUMP00000115903;OTTHUMP00000115904;OTTHUMP00000115905;caM-KK 1;caM-KK alpha;caM-kinase IV kinase;caM-kinase kinase 1;caM-kinase kinase alpha;caMKK 1;calcium/calmodulin-dependent protein kinase kinase 1;calcium/calmodulin-dependent protein kinase kinase alpha APPROVED protein-coding ENSG00000004660 1469 13000 611411 REVIEWED 735326 CAMK2B calcium/calmodulin-dependent protein kinase II beta The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Eight transcript variants encoding eight distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 7 7 p14.3-p14.1 44225416 44331749 - 44256749 44365230 - 1580863;6480464;6484113;6907045;7240705;7240704 22717267;22334212 9060999;19156168;19058789;18302935;17419996;16436603;16381901;16344560;16247765;16185778;16126727;15792370;15665723;15489336;15489334;15312654;15199064;14722083;14702039;14565989;12853948;12690205;12496285;12477932;12475968;12147342;11889801;11867691;11751951;11710563;11468283;11325525;11306676;11160423;11076863;11042361;10858498;10819240;9724800;9115241;9110174;8940188;8619474;8125298;7758473;3417668;2842767;17353931;10373510;11013247;12815021;14622581;15604093;18218981;18311135;20379614;8615909;9481670;8665664;21479273;12619878;21884935;15294044;18817731;21871176;20178748;21610080;21139048;21906983;22399527;21988832;22750393;22939624;23000965;23275563;17202341;22505724 816 A4D2J9;B7Z1Z6;E7EQE4;E7ERS6;E7ETC9;E9PBE8;H7BXS4;H7BZC6;H7C394;Q9UP00 AA399393;AACC02000110;AB073352;ABBA01058215;ABBA01058216;ABBA01058217;AC006454;AC093086;AC106040;AF078803;AF081572;AF081924;AF083419;AF112471;AF112472;AF131776;AF140350;AI190315;AJ252236;AJ252237;AJ252238;AK091991;AK222703;AK290148;AK294138;AK315663;AMYH01017209;BC019070;BI550751;BX445032;CH236960;CH471128;DA069361;DB175099;DB566810;NG_029407;NM_001220;NM_172078;NM_172079;NM_172080;NM_172081;NM_172082;NM_172083;NM_172084;U23460;U50358 AAB16863;AAC99802;AAD03743;AAD03744;AAD42035;AAD42036;AAD42037;AAD42038;AAD42070;AAH19070;AAS02024;AAS07454;BAD96423;BAF82837;BAG38029;BAH11682;CAB65120;CAB65121;CAB65122;CAL37627;CAL37670;CAL38439;CAL38692;EAL23755;EAL23756;EAL23757;EAL23758;EAL23759;EAL23760;EAL23761;EAL23762;EAW61104;EAW61105;EAW61106;EAW61107;EAW61108;EAW61109;NP_001211;NP_742075;NP_742076;NP_742077;NP_742078;NP_742079;NP_742080;NP_742081;Q13554 Hs.351887 1647837;1704772;1758075;1786466;1855772;2163188;2173183 D7S2140E;D7S2630;GDB:1318018;SHGC-147284;SHGC-172651;SHGC-32552;SHGC-79851 CAM2;CAMK2;CAMKB;MGC29528 CaM kinase II beta subunit;CaM-kinase II beta chain;OTTHUMP00000025109;OTTHUMP00000159355;OTTHUMP00000159356;OTTHUMP00000159440;OTTHUMP00000159441;OTTHUMP00000159442;OTTHUMP00000159443;OTTHUMP00000209343;OTTHUMP00000209344;OTTHUMP00000214130;OTTHUMP00000225913;caM kinase II subunit beta;caMK-II subunit beta;calcium/calmodulin-dependent protein kinase (CaM kinase) II beta;calcium/calmodulin-dependent protein kinase ii beta subunit;calcium/calmodulin-dependent protein kinase type II beta chain;calcium/calmodulin-dependent protein kinase type II subunit beta;proline rich calmodulin-dependent protein kinase APPROVED protein-coding ENSG00000058404 1461 12127 607707 REVIEWED 736174 CAMK2D calcium/calmodulin-dependent protein kinase II delta The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008] 4 4 q26 114593021 114902177 - 114372188 114683083 - 1580863;6480464;6484113;6907045;6907065;7240705;7240708 20638246;22717267;23091085 9060999;11264466;19132087;18218981;17192257;17179159;17081983;16436603;16344560;16185778;15489334;15345747;14722083;14702039;12477932;12145273;11972023;11889801;10852918;10819240;10525155;10189359;9847074;9692886;9165051;9115241;8404858;17353931;10373510;11013247;12815021;14622581;16120608;18311135;18832449;19615732;20332099;20379614;8615909;8665664;9481670;20442409;20668654;20814023;16767219;22270398;12676814;17157285;19482609;21447778;21491429;17620599;22623531;18457437;21139048;21890473;21906983;21150319;21988832;22939624;23000965;23283722;23218918 817 D6R938;E9PBG7;E9PF82;H0Y9C2;H0Y9J2;Q13557 AB209288;ABBA01063833;ABBA01063834;AC004056;AC004168;AC093900;AC107386;AF071569;AI004608;AI057019;AJ252239;AK025368;AK055642;AK294517;AL120285;AMYH01014474;AY987011;BC022558;BC032784;BX538071;BX647363;CA416772;CF551834;CH471057;DA113081;EF139846;NM_001221;NM_172114;NM_172115;NM_172127;NM_172128;NM_172129;U50361;U73738 AAB16866;AAB18327;AAD20442;AAH22558;AAH32784;AAX88806;ABM86181;ABW03692;BAD92525;BAG51545;BAH11796;CAB65123;EAX06295;EAX06296;EAX06297;EAX06298;EAX06299;EAX06300;EAX06301;NP_001212;NP_742112;NP_742113;NP_742125;NP_742126;NP_742127;Q13557 Hs.144114 1338395;1643907;1646019;1646021;1663537;1667157;1674157;1675692;1682772;1715021;1735404;1848827;1850468;1857648;2111143;2117910;2123851;2125003;2128949;2135719;2141589;2145774;2156343;2179941;2187384;5093620;5094022;5494159;7187551 A009S43;A010A47;D4S1366;D4S1497E;D4S1611;D4S2577E;D4S3165;D4S3167;D4S448;D4S967;EST02144;G32826;G33061;RH120847;SHGC-23829;SHGC-23830;SHGC-24808;SHGC-30317;SHGC-30731;SHGC-50558;SHGC-50970;SHGC-58101;SHGC-67300;SHGC-8542;SHGC-8607;STS-H54295;STS-R98767;fb62d09.x1 CAMKD;DKFZp686G23119;DKFZp686I2288;MGC44911 CaM kinase II delta subunit;CaM-kinase II delta chain;CaMK-II delta subunit;OTTHUMP00000163829;OTTHUMP00000163830;OTTHUMP00000163831;OTTHUMP00000220381;OTTHUMP00000220382;OTTHUMP00000220383;OTTHUMP00000220385;OTTHUMP00000220386;OTTHUMP00000220389;caM kinase II subunit delta;caMK-II subunit delta;calcium/calmodulin-dependent protein kinase (CaM kinase) II delta;calcium/calmodulin-dependent protein kinase ii, delta;calcium/calmodulin-dependent protein kinase type II delta chain;calcium/calmodulin-dependent protein kinase type II subunit delta APPROVED protein-coding ENSG00000145349 1462 09653 607708 REVIEWED 731356 CAMK4 calcium/calmodulin-dependent protein kinase IV The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq, Jul 2008] 5 5 q21.3 110587981 110848648 + 110559947 110820749 + 734683;1580863;734684;6480464;6907045 10932193;11572782 8089075;18029348;19538941;19386606;19017650;19001277;18829949;18660489;18606955;18053176;17909078;17903302;17192257;15841182;15840651;15680915;15665723;15591024;15489334;15143065;14701808;12630910;12477932;12065094;11970865;11470791;11395482;11274168;10874031;10681496;10617605;9822657;9705275;9154845;8702940;8621423;8194751;8107230;7615569;2536634;2011593;1375933;15902271;10400690;21514275;21612516;19436069;19506079;19633294;20171262;20378615;20379614;16344560;20677014;23535033;18930438;8855261;19953087;21139048;23049845;22897820;22939624;23103515;19100722 814 D6RCD6;D6RE65;D6REY7;Q16566 ABBA01069071;AC010275;AC010468;AC011422;AK311662;AK312840;AL833368;AMYH01015545;AMYH01015546;BC016695;BC025687;BG721313;CH471086;D30742;DA396146;L17000;L24959;NM_001744 AAA18251;AAA35639;AAH16695;AAH25687;ABM83828;ABM84121;ABM84122;ABM87522;ABM87523;ABM87524;ABM87525;BAA06403;BAG35694;EAW49032;EAW49033;EAW49034;NP_001735;Q16566 Hs.591269 1646776;1647015;1665321;1717151;1739057;1739061;1739069;1750835;1754827;1772136;2107907;2147714;2170330 CAMK4_8239;D5S1778;D5S1780;D5S1785;D5S2448;RH11450;RH121498;RH36049;RH36499;RH69019;SGC35247;SHGC-104500;SHGC-141749 CaMK IV;CaMK-GR;IV;MGC36771;caMK CAM kinase IV;CAM kinase- GR;OTTHUMP00000159000;OTTHUMP00000222818;brain Ca(2+)-calmodulin-dependent protein kinase type IV;brain Ca++-calmodulin-dependent protein kinase type IV;caM kinase-GR;caMK IV;calcium/calmodulin-dependent protein kinase type IV;calcium/calmodulin-dependent protein kinase type IV catalytic chain APPROVED protein-coding 1464 07169 114080 REVIEWED 1605634 CAMKMT calmodulin-lysine N-methyltransferase This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012] 2 2 2 p21 44427993 44838447 + 44442607 44853233 + 44589043 44999731 + 6480464 18234729;16344560;12477932;19575798;20200953;20379614;17207965;20975703;21832049;23349634;19322201;22610502;20881960;23285036 79823 B5MC16;B5MC79;H7C2N4;H7C2T0;H7C3B0;Q7Z624 ABBA01075107;ABBA01075108;ABBA01075109;ABBA01075110;ABBA01075111;ABBA01075112;ABBA01075113;ABBA01075114;ABBA01075115;ABBA01075116;AC012455;AC016703;AC019184;AC067957;AI933944;AK027104;AMYH01010305;AMYH01010306;BC029359;BC053733;CH471053;DA760277;DB461740;NG_032944;NM_024766 AAH29359;AAH53733;AAX88866;AAX93163;ADQ32074;BAB15658;EAX00272;EAX00273;EAX00274;NP_079042;Q7Z624 Hs.468349 1664466;1668498;1672490;1705402;1705580;1707088;1708566;1711254;1726917;1727743;1734214;1734216;1734218;1789560;1856133;2114677;2137644;2158280;2160949;2164561;2185891;5019837;5093742 A009V46;A010A13;AFM210XE9;D2S1485;D2S1486;D2S1487;D2S1830;D2S4016;G32897;G33043;G62702;G63136;RH10992;RH16227;RH47074;RH69636;SHGC-10607;SHGC-81302;SHGC-83564;SHGC-83898;SHGC-84990;SHGC-85069;WI-18144 C2orf34;CLNMT;CaM KMT;Cam;FLJ23451;KMT OTTHUMP00000158959;calmodulin methyltransferase;calmodulin-lysine N-methyltransferase;hypothetical protein LOC79823 APPROVED protein-coding ENSG00000143919 26276 08028 609559 REVIEWED 1321992 CAMSAP1 calmodulin regulated spectrin-associated protein 1 9 9 9 q34.3 109218269 109316951 - 137841248 137914570 - 138700333 138799005 - 737633;6480464 12477932 14702039;19508979;21890473 157922 Q9P1D5;Q9UFJ5 ABBA01030047;ABBA01030048;AF116701;AJ420438;AJ519841;AK025533;AK055790;AL117634;AL158822;AL353636;AL355574;AL834528;AMYH01021850;AMYH01021851;AW448941;BC010646;BC012778;BC040549;BC130580;BC144082;BU949503;CH471090;NM_015447 AAF71121;AAH10646;AAH12778;AAI30581;AAI44083;CAB56024;CAD39184;CAD58627;EAW88183;EAW88184;EAW88185;EAW88186;NP_056262;Q5T5Y3 Hs.522493 1662017;1668288;1735900;1735914;1775683;1786890;1787130;2114573;2116049;2125177;2137593;2157856;2158180;2181995;2181997 A004G46;A005O30;D9S1042E;D9S1053E;D9S1146;G20380;RH18182;RH70341;RH78822;SGC30172;SHGC-101598;SHGC-155357;SHGC-36022;STS-R16148;WI-20957 DKFZp434F195;DKFZp434G2311;FLJ31228;MGC163452;PRO2405;RP11-100C15.2;bA100C15.1 OTTHUMP00000022559;OTTHUMP00000202115;OTTHUMP00000202116;bA100C15.1 (novel protein);calmodulin-regulated spectrin-associated protein 1 protein-coding ENSG00000130559 19946 13001 613774 VALIDATED 737324 CAMKK2 calcium/calmodulin-dependent protein kinase kinase 2, beta The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases. [provided by RefSeq, Jul 2012] 12 12 q24.2 120159878 120220494 - 121675495 121736111 - 2311420;6480464;6484113 16054095 22654108;11395482;18436530;17197037;16880506;16673375;16247765;16054096;15489334;12935886;12477932;12168954;9872452;9822657;9662074;12628440;10187789;16344560;18029348;19407487;19667195;19763792;19958286;20018878;20379614;21084482;20562859;21832049;23027865;21670147;17043677;21807092;19953087;21890473;21906983;21669867;21957496;22939624;23110126;18976975;22778263 10645 F5GZ00;F5H360;F5H4I7;J3KPZ9;Q9Y5N2 AA678930;AB018330;AB081336;AB081337;ABBA01020153;ABBA01020154;ABBA01020155;ABBA01020156;ABBA01020157;AC069209;AF091074;AF101264;AF140507;AF287630;AF287631;AF321385;AF321386;AF321387;AF321388;AF321389;AF321401;AF321402;AF425668;AI612762;AK024748;AK292072;AK300865;AL834322;AMYH01004811;BC000318;BC026060;BF972593;CH471054;DA075361;NG_029409;NM_001270485;NM_001270486;NM_006549;NM_153499;NM_153500;NM_172214;NM_172215;NM_172216;NM_172226;U87803 AAC72943;AAD04566;AAD31507;AAH00318;AAH26060;AAK64600;AAK64601;AAK91829;AAK91830;AAL37215;AAL37216;AAL37217;AAL37218;AAN37388;ABM84336;ABM87784;BAA34507;BAC19840;BAC19841;BAF84761;BAG62514;CAD38990;EAW98247;EAW98248;EAW98249;EAW98250;EAW98251;EAW98252;EAW98253;EAW98254;EAW98255;EAW98256;EAW98257;EAW98258;NP_001257414;NP_001257415;NP_006540;NP_705719;NP_705720;NP_757363;NP_757364;NP_757365;NP_757380;Q96RR4 Hs.297343 1653567;1736296;1746515;1746563;1768650;1848161;1848163;2106817;2106819;2106821;2106823;2106825;2165736;2170322;2174688;5022578 A001Z45;D12S1241E;D1S1423;G19833;G64570;G64571;HSC2OG072;PG2S01;PG2S02;PG2S09;PG2S15;PG2S5UT01;RH11188;RH11255;SGC32416;WI-15135 CAMKK;CAMKKB;KIAA0787;MGC15254 CAMKK beta protein;OTTHUMP00000240235;OTTHUMP00000240236;OTTHUMP00000240237;OTTHUMP00000240238;OTTHUMP00000240239;OTTHUMP00000240241;OTTHUMP00000240242;OTTHUMP00000240244;OTTHUMP00000240245;ca+/calmodulin-dependent protein kinase kinase beta (cam-kinase kinase beta);caM-KK 2;caM-KK beta;caM-kinase kinase 2;caM-kinase kinase beta;caMKK 2;calcium/calmodulin-dependent protein kinase beta;calcium/calmodulin-dependent protein kinase kinase 2;calcium/calmodulin-dependent protein kinase kinase beta APPROVED protein-coding ENSG00000110931 1470 06467 615002 REVIEWED 6481052 CAMTA1-IT1 CAMTA1 intronic transcript 1 (non-protein coding) 100874340 Z97987 miscrna 41446 1347931 CAMLG calcium modulating ligand The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq, Jul 2008] 5 5 q23 134102105 134115746 + 134074170 134087850 + 1580863;2316229;6480464 12031912 16243292;7522304;12919676;18391951;15668245;12477932;12388711;11006089;9632697;9311921;8824814;15451437;10880535;19135167;20126395;20485444;16344560;23041287;20553626;21139048;21906983;22281498;21128111 819 D6RIW3;P49069 ABBA01068746;ABBA01068747;ABBA01068748;AC010301;AF068179;AK313156;AMYH01015626;BC063532;BC130325;BG720084;BX111055;CH471062;DA727548;NM_001745;U18242 AAA59420;AAC23596;AAI30326;ADR82926;BAG35974;EAW62243;EAW62244;NP_001736;P49069 Hs.529846 1674906;1700284;1793358;1848328;2218334;5015961;5022322 CAMLG_4499;D11S2560;D15S1477;PMC212802P1;RH103760;SGC30209;SHGC-32215 CAML;MGC163197 OTTHUMP00000159378;OTTHUMP00000223128;calcium signal-modulating cyclophilin ligand;calcium-modulating cyclophilin ligand;calcium-signal modulating cyclophilin ligand;cyclophilin B-binding protein APPROVED protein-coding ENSG00000164615 1471 03073 601118 REVIEWED 1343513 CAMP cathelicidin antimicrobial peptide This gene encodes a member of an antimicrobial peptide family, characterized by a highly conserved N-terminal signal peptide containing a cathelin domain and a structurally variable cationic antimicrobial peptide, which is produced by extracellular proteolysis from the C-terminus. The encoded protein has several functions in addition to antimicrobial activity, including cell chemotaxis, immune mediator induction and inflammatory response regulation. [provided by RefSeq, Aug 2011] 3 3 p21.3 48239866 48241979 + 48264837 48266981 + 1580863;2316243;2316237;6480464;6907045 17142779;19879657 22246800;19542465;19389235;19265148;19263072;19245866;19234121;19183447;19166322;19014773;18936485;18818205;18765670;18717821;18703682;18657865;18579695;18490458;18258235;18200058;18166145;18059019;17960624;17943182;17922409;17882905;17873860;17805349;17764778;17709140;17676051;17675463;17627504;17400609;17181861;17041145;17015740;17012259;16998135;16926414;16764694;16751768;16750994;16645154;16630942;16497887;16493063;16456005;16236890;16177113;16034119;15953032;15864780;15778507;15778390;15717688;15675959;15661923;15645239;15609314;15591123;15531744;15500911;15489334;15364108;15322010;15222757;15067080;15004180;14978112;14561157;12782669;12767238;12759353;12713586;12625579;12612195;12603850;12578451;17621825;12477932;21518024;12454100;12445197;12375270;12366839;12351523;12244186;12101274;11972628;11796631;11753073;11544322;11389039;11238224;11049988;11015447;10858248;10225921;9689116;9182550;8946956;8681941;7890387;7624374;7615076;7529412;22674298;19133797;19346112;19390494;19527294;19531482;19625657;19703986;19750480;19800862;19808939;19812202;19894716;19949065;20042575;20054823;20090765;20140902;20190140;20646232;20849904;16177355;20375583;20610648;20685090;20661475;20600427;17207965;20624254;20653851;19645825;20097832;20970965;22695798;23045480;23283724;21179490;20556966;21463582;21470491;22759465;22815956;22901663;23267025;23424670;21211790;21529380;21732986;21562016;21685939;21713010;21832078;21790937;21858032;23052388;23217559;22039520;22069323;21850017;22095714;22927244;23095809;22023339;21988832;23246832;22036268;22184422;22516952;23038277;23142587;23241112;23406372;22336091;23332157;23100468;22781454 820 J3KNB4;P49913 AA635187;ABBA01024653;AC104190;AMYH01013149;AY162210;AY251531;BC055089;BU074012;CH471055;CR457083;CR541961;GM949500;NM_004345;U19970;U48795;X89658;X96735;Z38026 AAA74084;AAC02634;AAH55089;AAN78318;AAP20054;ADQ32148;CAA61805;CAA86115;CAG33364;CAG46759;CAV11903;EAW64854;NP_004336;P49913 Hs.51120 2147727 SHGC-76929 CAP-18;CAP18;CRAMP;FALL-39;FALL39;HSD26;LL37 18 kDa cationic antimicrobial protein;CAP-18;OTTHUMP00000164805;cathelicidin antimicrobial peptide;hCAP-18 APPROVED protein-coding ENSG00000164047 1472 02722 600474 VALIDATED 1604302 CAMKV CaM kinase-like vesicle-associated 3 3 3 p21.31 49861230 49873180 - 49870426 49882373 - 49895422 49907369 - 6480464 18029348;19367581;15489334;15345747;14702039;12477932;11256614;11230166;8283228;16169070;21145461;21832049;21906983;22318606 79012 B4DM24;B4DSW8;C9J9E2;C9JSB2;E7ETR1;F8WDJ4;Q9H0Q5 ABBA01024571;AC105935;AC139451;AK074856;AK074899;AK075294;AK226073;AK295588;AK297258;AK297437;AK299953;AK315525;AL136697;AL833943;AL834461;AMYH01013163;BC000497;BC001921;BC005828;BC017363;BC019256;BC033374;BX647074;CH471055;CR533508;NM_024046 AAH00497;AAH01921;AAH05828;AAH17363;AAH19256;ABM82330;ABM87818;BAC11248;BAC11278;BAC11528;BAG37906;BAG58480;BAG59736;BAG59864;BAG61780;CAB66632;CAD38798;CAG38539;EAW65027;EAW65028;EAW65029;EAW65030;EAW65031;EAW65032;EAW65033;EAW65034;NP_076951;Q8NCB2 Hs.145156 1665869;1672186;2147079 1810;RH11809;WI-15318 1G5;MGC8407;VACAMKL OTTHUMP00000212743;OTTHUMP00000212744;OTTHUMP00000212745;OTTHUMP00000212746;OTTHUMP00000212747;OTTHUMP00000212766;caM kinase-like vesicle-associated protein;vesicle-associated calmodulin-binding protein protein-coding ENSG00000164076 28788 11361 614993 VALIDATED 1604039 CAMSAP2 calmodulin regulated spectrin-associated protein family, member 2 1 1 1 q32.1 173831311 173953903 + 198975309 199096455 + 200708686 200829832 + 6480464 19508979;15561718;15897902;15345747;14702039;12477932;12107410;10470851;21139048;22116939;19322201;16713569 23271 B3KTI4;H0Y4Z1;H0YE13;Q08AD1 AB029001;ABBA01027542;ABBA01027543;ABBA01027544;ABBA01027545;ABBA01027546;AF087998;AK026348;AK095640;AK126821;AL110158;AL450104;AMYH01001637;AMYH01001638;BC011385;BC029449;BC045721;BC056910;BC065508;BC125229;BC125230;CA388618;CH471067;H14341;NM_203459 AAH11385;AAH56910;AAI25230;AAI25231;BAA83030;BAG53096;BAG54376;CAB53664;EAW91320;EAW91321;NP_982284;Q08AD1 Hs.23585 1675461;1696910;1709560;2114213;2155623;2167056;2172375 RH101923;RH92112;SHGC-33046;SHGC-76118;SHGC-76122;SHGC-76143;SHGC-81869 CAMSAP1L1;KIAA1078;MGC150680;MGC150681;RP11-93N17.1 OTTHUMP00000033885;OTTHUMP00000033922;OTTHUMP00000038644;calmodulin regulated spectrin-associated protein 1-like 1;calmodulin-regulated spectrin-associated protein 1-like protein 1;calmodulin-regulated spectrin-associated protein 2 APPROVED protein-coding ENSG00000118200 29188 11124 613775 VALIDATED 1346126 CANDN1 candidiasis, nail 1 (with ICAM1 deficiency) 7240710 12205111;12774035 338434 20683 1316325 CAMSAP3 calmodulin regulated spectrin-associated protein family, member 3 19 19 19 p13.2 7533272 7554380 + 7566788 7589196 + 7660788 7683196 + 6480464;6484113 19041755;19041742;16964243;15489334;15302935;12477932;11318610;10819331;8889548;16169070;23084401;19508979;19389623;21900206 57662 Q8WZ12;Q9P1Y5 AB040976;ABBA01010894;ABBA01010895;ABBA01010896;ABBA01010897;ABBA01010898;AC008763;AF289580;AL833927;AMYH01009406;AMYH01009407;AMYH01009408;AMYH01009409;AMYH01009410;BC020431;BC035808;BC036935;BC064490;BC128201;BC128202;BU733578;CH471139;NM_001080429;NM_020902 AAI28202;AAI28203;AAL55764;BAA96067;CAD38783;EAW69025;EAW69028;NP_001073898;NP_065953;Q9P1Y5 Hs.17686 1334745;1336406;1851658;2111097;2137045 D19S388E;D19S76;D19S905;RH47063;SGC33793 KIAA1543;NEZHA calmodulin-regulated spectrin-associated protein 3;protein Nezha APPROVED protein-coding ENSG00000076826 29307 612685 VALIDATED 1318785 CAMTA1 calmodulin binding transcription activator 1 1 1 p36.31-p36.23 6767971 7752351 + 6845384 7829766 + 1580863;6480464 19336475;18210030;17470457;17222547;16710414;15709179;15138581;12964007;12477932;12168954;11925432;10048485;19913121;20628086;19851296;20125193;20198315;20379614;21385898;22693284;22429593;21584898;18029348;21857646;21951953;15174051;23000965;22699663;23362303 23261 G3V297;H0YJG5;H0YJK7;H0YJR7;H0YJV1;H0YJY7;Q9Y6Y1 AA757826;AB020640;ABBA01035467;ABBA01035468;ABBA01035469;ABBA01035470;ABBA01035471;ABBA01035472;ABBA01035473;ABBA01035474;ABBA01035475;ABBA01035476;ABBA01035477;ABBA01035478;ABBA01035479;ABBA01035480;ABBA01035481;ABBA01035482;ABBA01035483;ABBA01035484;ABBA01035485;ABBA01035486;ABBA01035487;ABBA01035488;ABBA01035489;AF086286;AF111804;AI278074;AK302088;AK309727;AL157716;AL359881;AL365194;AL512330;AL590128;AL596210;AL683812;AMYH01000218;AMYH01000219;AMYH01000220;AMYH01000221;AMYH01000222;AMYH01000223;AMYH01000224;AW956937;AY037153;AY349360;BC038183;BC051341;BC116457;BC151835;BG027385;BM470492;CD103791;NM_001195563;NM_001242701;NM_015215;NR_038934;Z97635;Z97987;Z98052;Z98884 AAH51341;AAI16458;AAI51836;AAK67633;AAL39006;AAQ56724;BAA74856;BAG63475;NP_001182492;NP_001229630;NP_056030;Q9Y6Y1 Hs.397705;Hs.671020 1298152;1338235;1338668;1338882;1338999;1339362;1339510;1339969;1655606;1670884;1672909;1686626;1691948;1692978;1695246;1695380;1698848;1706214;1711156;1732701;1732870;1732886;1732990;1733046;1733050;1740583;1740585;1754467;1759483;1762921;1765719;1781480;1781768;1788952;1849830;2113506;2118305;2120955;2125405;2137834;2145904;2163221;2173633;5015147;7187931 AL009308;AL009326;AL009713;AL009845;AL033595;AL034206;BZ907149;D1S113;D1S1192;D1S1297;D1S1306;D1S1365;D1S1398;D1S1400;D1S1646;D1S214;D1S2586;D1S2642;D1S2663;D1S2666;D1S2694;D1S508;D1S548;D1S95;G06229;G16217;G65551;RH102988;RH44468;RH98600;SHGC-132293;SHGC-132739;SHGC-146676;SHGC-149152;SHGC-150713;SHGC-152712;SHGC-155570;SHGC-31020;SHGC-62954;SHGC-68426;SHGC-74143;SHGC-74163;SHGC-80636;SHGC-85316 CANPMR;KIAA0833 OTTHUMP00000001352;OTTHUMP00000244035;OTTHUMP00000244036;OTTHUMP00000244038;calmodulin-binding transcription activator 1 protein-coding ENSG00000171735 18806 16681 611501;614756 VALIDATED 5489226 CAP1P1 CAP1 pseudogene 1 3 3 p12.3 76565859 76568015 + 76483169 76484576 + 401076 ABBA01031000;AC026877;AMYH01013293;NG_022250;NG_027734 pseudo 31134 INFERRED 5489259 CAP1P2 CAP1 pseudogene 2 10 10 q11.21 43420073 43421705 - 44100294 44101652 - 399748 ABBA01050012;AL645634;AMYH01002293;NG_022144 pseudo 31970 INFERRED 1322678 CAMTA2 calmodulin binding transcription activator 2 The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. The encoded protein may be a transcriptional coactivator of genes involved in cardiac growth. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010] 17 17 17 p13.2 4886098 4905775 - 4812017 4831655 - 4871287 4890960 - 1580863;6480464 16678093;15489334;12477932;11925432;10048485;16344560;16678087;17046230;17689537 23125 I3L146;I3L2A1;I3L3V0;I3L3W6;O94983 AB020716;ABBA01054785;ABBA01054786;ABBA01054787;AC004771;AK302528;AK307947;AK308666;AL831849;AL833974;AMYH01008044;BC010050;BC016163;BC032381;BC136534;BC142606;BC142695;BC144232;BC167148;BC167149;BC167151;BC167160;BI548947;DB275145;NM_001171166;NM_001171167;NM_001171168;NM_015099 AAH10050;AAH16163;AAH32381;AAI36535;AAI42696;AAI44233;AAI67148;AAI67149;AAI67151;AAI67160;ACE86799;ACE87486;BAA74932;BAG63801;CAD38553;CAD38818;NP_001164637;NP_001164638;NP_001164639;NP_055914;O94983 Hs.632242 1698914;2218746;5022921;5491256 CAMTA2__4500;MARC_6523-6524:992007271:1;RH103026;ksks155 KIAA0909 OTTHUMP00000125265;calmodulin-binding transcription activator 2 APPROVED protein-coding ENSG00000108509 18807 13002 611508 VALIDATED 1346127 CAP2P1 CAP, adenylate cyclase-associated protein, 2 (yeast) pseudogene 1 14 14 14 q31.3 69803981 69806194 - 88825615 88827828 - 89755862 89758075 - 353163 ABBA01030520;AL157736;AL357093;AMYH01005939;NG_002772 pseudo 20142 INFERRED 733192 CAND2 cullin-associated and neddylation-dissociated 2 (putative) 3 3 3 p25.2 12776461 12814604 + 12813171 12851301 + 12838171 12876313 + 6480464 12692129;19159115;16641997;12207886;10441524;9734811;20736409;12477932;23181366;22613845;21139048;21906983;21169563;22190034;22952844 23066 C9JH00;F8WBB8;O75155 AB014567;ABBA01025188;ABBA01025189;AC034198;AMYH01012988;BC136592;BE256308;BX502783;BX648800;CH471055;DB471722;DR001490;GU727621;NM_001162499;NM_012298;W44800 AAI36593;ADU87623;BAA31642;EAW64143;NP_001155971;NP_036430;O75155 Hs.343664 1671993;1680296;1855525;2112560;2112680;2112682;2185840 D3S4338;D3S4400;D3S4401;RH93304;SHGC-32188;SHGC-76713;WI-21041 KIAA0667;TIP120B;Tp120b OTTHUMP00000207913;OTTHUMP00000209387;TBP interacting protein;TBP-interacting protein 120B;TBP-interacting protein of 120 kDa B;cullin-associated NEDD8-dissociated protein 2;cullin-associated and neddylation-dissociated protein 2;epididymis tissue protein Li 169;p120 CAND2;tbp-interacting protein tip120b protein-coding ENSG00000144712 30689 610403 VALIDATED 1348972 CANT1 calcium activated nucleotidase 1 This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010] 17 17 q25.3 74499394 74517433 - 76987798 77005899 - 631908;1580863;6480464;6907045;7240710 12167635 16751776;12761501;18451133;18222531;18067325;16303743;15489334;15248776;15006348;14702039;12600208;12477932;12234496;21037275;12676900;15211652;19853239;19948975;21435463;21412251;21654728;22539336;22797925 124583 K7EIP9;K7EKT2;K7EKW6;K7EMT2;K7EN15;K7EQD4;K7EQT4;Q8WVQ1 AB097006;AB097033;ABBA01002907;ABBA01002908;AC073624;AC100788;AF328554;AJ312208;AK026161;AK074687;AK295930;AMYH01008678;BC005104;BC017655;BC065038;BC118563;CH471099;CQ783584;DC355691;DQ578890;DQ582927;DQ585977;DQ595190;NG_016645;NM_001159772;NM_001159773;NM_138793 AAH05104;AAH17655;AAH65038;AAM94564;BAC11139;BAC77359;BAC77386;BAG58716;CAC85468;CAF86751;EAW89548;EAW89549;EAW89550;EAW89551;EAW89552;EAW89553;EAW89554;EAW89555;NP_001153244;NP_001153245;NP_620148;Q8WVQ1 Hs.8859 1340599 D17S1806 DBQD;SCAN-1;SCAN1;SHAPY Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase;apyrase homolog;micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification;putative MAPK-activating protein PM09;putative NF-kappa-B-activating protein 107;soluble Ca-activated nucleotidase, isozyme 1;soluble calcium-activated nucleotidase 1;soluble calcium-activated nucleotidase SCAN-1 APPROVED protein-coding ENSG00000171302 19721 13003 251450;613165 REVIEWED 733696 CAND1 cullin-associated and neddylation-dissociated 1 12 12 q14 65949416 65994189 + 67663061 67708388 + 1559298;6480464 15209382 12504025;10581176;12609982;18826954;16344560;16303743;16036220;15537541;15489334;15208391;14702039;12504026;12477932;11230166;10931946;10048485;8954946;17438373;18606781;21145461;21319273;22013077;22261722;22474075;22902628;22405651;12207886;16964240;17439941;17643375;18173839;19615732;19668339;20562859;15448697;19454010;20820187;12706828;22863883;22990118;23022380;21249194;21252943;21778237;22360420;18781797;19596686;21081666;21139048;21890473;21906983;12684064;16861300;17079684;19193609;20473970;21169563;22767593;23181366;17110338;19738201;19805454;21149631;23000965;23453757;22032989;23328082;19295130;22053931;23019411 55832 F5H6I6;H0YH27;Q9H0G2 AB020636;ABBA01026566;ABBA01026567;AC012518;AC078983;AF157326;AK000976;AK001791;AK027404;AK027783;AK074922;AK096010;AK129780;AK292456;AK314358;AL133560;AL136810;AL833880;AMYH01004558;BC004232;BC026220;BC050341;CH471054;DB064887;DB098973;NM_018448 AAF67492;AAH04232;AAH26220;AAH50341;ACE86847;ACE87534;BAA74852;BAB55090;BAB55365;BAF85145;BAG36990;BAG50842;BAG50975;CAB63714;CAB66744;CAD38737;EAW97171;EAW97172;NP_060918;Q86VP6 Hs.546407 1686140;1713925;1746735;1849539;1851984;2126610;2139099;2183899 D12S868;G64814;RH11001;RH119392;RH80154;STS-N47220;WI-12457;WI-13881 DKFZp434M1414;FLJ10114;FLJ10929;FLJ38691;FLJ90441;KIAA0829;TIP120;TIP120A OTTHUMP00000240019;TBP interacting protein;TBP-interacting protein 120A;TBP-interacting protein of 120 kDa A;cullin-associated NEDD8-dissociated protein 1;cullin-associated and neddylation-dissociated protein 1;p120 CAND1 protein-coding 30688 06983 607727 VALIDATED 733378 CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast) This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008] 6 6 6 p22.3 18632068 18796067 + 17501715 17666002 + 17393736 17558023 + 1580863;6480464 7962207;18391951;17000669;15489334;15231748;12477932;8761950;20936779;22863883;23022774;21139048 10486 B7Z1C4;B7Z214;B7Z385;E9PDI2;F8WDB9;F8WEW0;P40123;Q5JPJ8 ABBA01022212;ABBA01022213;ABBA01022214;ABBA01022215;ABBA01022216;ABBA01022217;ABBA01022218;ABBA01022219;ABBA01022220;ABBA01022221;AI928000;AK293134;AK294215;AK295600;AK297538;AK308461;AK312362;AL034372;AL138824;AL832154;AMYH01016117;AMYH01016118;AMYH01016119;BC008481;BF791244;BI667914;CH471087;CR457022;NM_006366;U02390 AAA20587;AAH08481;ABM84679;ABM92205;BAG35280;BAH11460;BAH11700;BAH12121;BAH12609;CAG33303;CAI46134;EAW55380;NP_006357;P40123 Hs.132902 1339091;1339355;1678261;1712821;2108715;2140617;2172808;2172810 1874;A006B38;CAP2_9120;D6S1567;D6S966;G20684;RH120127;RH79700 2810452G09Rik;CAP 2;OTTHUMP00000016069;OTTHUMP00000214354;OTTHUMP00000214357;OTTHUMP00000214358;adenylyl cyclase-associated protein 2 APPROVED protein-coding ENSG00000112186 20039 10808 REVIEWED 7247095 CAPN10-AS1 CAPN10 antisense RNA 1 (head to head) q37.3 14702039 101752400 AC124862;AK024254;AL832402;NR_103792 Hs.585987 miscrna 48839 VALIDATED 1349457 CAP1 CAP, adenylate cyclase-associated protein 1 (yeast) The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2008] 1 1 p34.2 40278842 40310908 + 40506255 40538321 + 1580863;2326238;6480464 19188911 20471030;22939629;7962207;1406678;18716285;18671965;17900295;16807684;16710414;16341674;16289162;15489334;15311924;14702039;12665801;12477932;11950878;8761950;8125298;20416077;22863883;22990118;23182705;21800051;21139048;21890473;22586326;11557983 10487 D3DPU2;Q01518;Q5T0R1;Q5T0R2;Q5T0R3;Q5T0R4;Q5T0R5;Q5T0R6;Q5T0R7;Q5T0R8;Q5T0R9;Q5T0S3 ABBA01023190;AK096193;AK222513;AK295396;AK297829;AK298094;AK298110;AK300861;AK315731;AL512599;AMYH01000531;BC013963;BC020367;BC095440;BI460362;BM772471;BP391532;BT007152;CH471059;CR457409;L12168;M98474;NM_001105530;NM_006367 AAA35507;AAA35648;AAH13963;AAH95440;AAP35816;ABM81586;ABM84766;BAD96233;BAG38086;BAG58350;BAG60165;BAG60379;BAG60395;BAG62510;CAG33690;EAX07239;EAX07240;EAX07241;EAX07242;EAX07243;EAX07244;EAX07245;NP_001099000;NP_006358;Q01518 Hs.370581;Hs.713078 1649851;1723535;2115796;2129011;2151518;2176157;5124079 D1S1857E;D1S2572;G16306;RH118585;RH69007;SHGC-74659;WI-12268 CAP;CAP1-PEN CAP 1;OTTHUMP00000004820;OTTHUMP00000004821;OTTHUMP00000004822;OTTHUMP00000004823;OTTHUMP00000004824;OTTHUMP00000004825;adenylyl cyclase-associated protein 1 APPROVED protein-coding ENSG00000131236 20040 09869 614849 REVIEWED 1323330 CAPG capping protein (actin filament), gelsolin-like This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012] 2 2 p11.2 85475382 85491187 - 85621871 85641197 - 1580863;6480464 1322908;19166812;19011242;18938132;18709641;18461482;18266911;18237446;18059028;17081065;16767159;15489334;15454578;12754261;12637565;12477932;11694586;9160743;8125298;7851883;7814409;18029348;19188659;19242827;19439302;22190510;21768101;11337467;21906983;22155129;21908955;23085225;19454010 822 B2R9S4;B4DU58;B8ZZL6;E7ENU9;H7C0X8;P40121 ABBA01075748;ABBA01075749;AC062037;AK130130;AK225374;AK225378;AK300507;AK309290;AK313898;AMYH01010494;AU099216;BC000728;BC014549;BU626913;CH471053;M94345;NM_001256139;NM_001256140;NM_001747;U12026 AAA59570;AAA92670;AAH00728;AAH14549;AAY24128;ABM83089;ABM86283;BAG36621;BAG62220;EAW99517;EAW99518;EAW99519;EAW99520;NP_001243068;NP_001243069;NP_001738;P40121 Hs.516155 2160884;5491818 CAPG;WI-17489 AFCP;MCP OTTHUMP00000203056;OTTHUMP00000203057;OTTHUMP00000203058;OTTHUMP00000203059;OTTHUMP00000203060;OTTHUMP00000203061;OTTHUMP00000203063;actin regulatory protein CAP-G;actin-regulatory protein CAP-G;gelsolin-like capping protein;macrophage capping protein;macrophage-capping protein APPROVED protein-coding ENSG00000042493 1474 01088 153615 REVIEWED 737068 CANX calnexin This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 5 5 q35 179058536 179091248 + 179125930 179158642 + 1580863;2314284;6480464;6907045 18567819 8136357;8055875;14966132;19054761;18791162;18716059;18417615;18367207;17728248;17395585;17203246;17170088;17081983;17081065;16938437;16858427;16565220;16304048;16061483;16002696;15923638;15557823;15537650;15489334;15467828;15261665;15236594;15231748;15161937;14980518;14732708;14732231;14498830;12805210;12643545;12610306;12610305;12562843;12507291;12477932;12383251;12359150;12239218;12222674;12208510;12119418;12052826;11851433;11756446;11751874;11583625;11566319;11506858;11350933;10636893;10601334;10364201;9717723;9642293;9545232;9528938;9525969;9312001;9295027;9110174;9050874;9024687;8910335;8662691;8621641;8619474;8551575;8549676;8486646;8278814;8163531;1326756;1286667;10873786;11054427;8790377;8550632;10364189;12582175;11765911;7513695;15105504;10461883;10436013;17948026;21145461;22905195;16169070;16546175;17215244;17220478;17387721;17467700;17872946;18029348;19524015;19801547;19815548;20202930;10929008;18303019;20506117;20528919;20720009;20801878;9765244;21205830;21362330;19651773;22915798;22939629;17569659;11901144;16257961;23233672;23383273;16196087;19135240;22354994;22586326;18781797;20360068;21081666;21139048;21343306;21693764;21890473;21906983;22222883;21842374;22314232;19471022;16361248;19723497;21252943;16968747;19322201;22065046;19342655;11054417;17360537;21632540;22053931;22190034;22242185;22337587;22505724;9642271;9925657;10671537 821 B4DGP8;B4E2T8;D6RAQ8;D6RAU8;D6RB85;D6RD16;D6RDP7;D6RFL1;D6RFW4;D6RG29;D6RGY2;D6RHJ3;H0Y9H1;H0Y9Q7;P27824 ABBA01010032;ABBA01010033;ABBA01010034;ABBA01010035;AC113426;AF070646;AJ271880;AK129990;AK130080;AK294702;AK304420;AK312334;AMYH01015957;BC003552;BC042843;BC050534;CH471165;JA462402;L10284;L18887;M94859;M98452;NM_001024649;NM_001746 AAA21013;AAA21749;AAA35696;AAA36125;AAH03552;AAH42843;ABM84720;ABM92244;BAC85269;BAG35255;BAG57859;BAG65250;CAB72137;CCD35249;EAW53802;EAW53803;EAW53804;EAW53805;NP_001019820;NP_001737;P27824 Hs.567968 1653593;1769655;1849556;2112208;2119090;2139140;2171534;2181088 108;D5S2779;RH16379;RH17758;RH44837;SHGC-12400;SHGC-52564;STS-N25670 CNX;FLJ26570;IP90;P90 OTTHUMP00000161516;OTTHUMP00000223184;OTTHUMP00000223187;calnexin;major histocompatibility complex class I antigen-binding protein p88 APPROVED protein-coding ENSG00000127022 1473 00252 114217 REVIEWED 1352333 CAPN14 calpain 14 Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM, Mar 2008] 2 2 2 p23.1-p21 31238630 31283129 - 31249426 31310228 - 31395922 31440411 - 6480464 14702039;11675017;10964513 440854 A8MX76;B7Z467;F1LLU4;G8JLL1 AA743820;ABBA01074852;AC015980;AK092257;AK296910;AL121657;AMYH01010219;DC347418;NM_001145122 A8MX76;BAG52511;BAH12453;NP_001138594 Hs.468059 1337052;1721687;1751339;1779030 D2S2283;D2S2741;G59706;SHGC-105147 FLJ54788 CANP 14;OTTHUMP00000201066;calcium-activated neutral proteinase 14;calpain-14 APPROVED protein-coding ENSG00000214711 16664 610229 VALIDATED 1316482 CAPN12 calpain 12 The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012] 19 19 19 q13.2 36022825 36037032 - 43912672 43926954 - 39220832 39235114 - 6480464 14702039;12477932;10964513 147968 M0QXJ6;M0QZ20;M0QZT6;M0R052;M0R0X4;M0R3D7;Q6ZSI9 ABBA01040692;ABBA01040693;AC022144;AK125713;AK127398;AMYH01009784;AMYH01009785;BC014027;BC040022;BE872274;CH471126;NM_144691 AAI40398;AAI53094;BAC86959;EAW56813;EAW56814;EAW56815;EAW56816;NP_653292;Q6ZSI9 Hs.731775 1854288;2180935 RH16012;SHGC-16522 MGC20576 CANP 12;calcium-activated neutral proteinase 12;calpain-12 APPROVED protein-coding ENSG00000182472 13249 07007 608839 VALIDATED 736980 CAPN1 calpain 1, (mu/I) large subunit The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 11 11 q13 64705919 64736052 + 64948686 64979477 + 1580863;1626249;6480464;6907045 17429681 15935327;8702541;19457105;18823990;18806756;18793761;18726991;18498295;18468730;18165173;18085799;18071073;18070881;18032503;17977825;17908236;17765980;17716656;17690304;17359359;17195093;17157313;17121855;16908521;16740134;16697376;16598790;16361262;16150694;16107503;15975558;15950654;15948206;15809056;15663601;15590628;15489334;15488707;15471877;15302874;15131115;14980313;14702039;14612448;12843408;12684003;12591934;12477932;12432277;12393869;12358155;12200134;12121992;12000759;11861304;11516996;10846184;10830966;10677567;10521480;9989581;9852298;9110986;8993318;8938448;8695851;8561910;8253784;7592818;7499244;7493986;3038169;3017764;2844821;2400579;2209092;1656060;8954122;10978167;16737952;18029348;18624772;19617626;19901552;19946330;20034566;20041182;20193680;16344560;20933204;20398180;20518497;20514436;20557290;20659425;21268016;21305563;20679491;22863883;22990118;23289183;21209906;21516125;21876002;21880013;21252943;21531719;21825064;21374734;21808066;21555338;21442128;21839844;22335024;17620599;22477191;22586326;22145905;21139048;21890473;18624398;21906983;22449977;21315622;21494752;22480599;23006733;19458911;19738201;21963094;21987572;21988832;22190034;22623428;23000965;23400779;23408424;17897354;19022302;20962236;22505724 823 B2RDI5;B4DWH5;E9PIA9;E9PJA6;E9PJJ3;E9PL37;E9PLC9;E9PLQ6;E9PLX0;E9PMC6;E9PQB3;E9PRM1;E9PSA6;P07384 ABBA01024132;ABBA01024133;AK022319;AK025380;AK097277;AK301538;AK311001;AK315556;AMYH01003716;AP003068;AY550975;AY796340;BC008751;BC015091;BC017200;BC075862;BE018156;CH471076;DA788342;DC365116;DC372552;NM_001198868;NM_001198869;NM_005186;NR_040008;X04366 AAH08751;AAH17200;AAH75862;AAT52221;AAV41878;ABM83831;ABM87599;BAG37932;BAG63037;CAA27881;EAW74366;EAW74367;EAW74368;EAW74369;EAW74370;EAW74371;NP_001185797;NP_001185798;NP_005177;P07384 Hs.502842;Hs.735492 1738121;1851227;2132979;2167102;2175336;5016596 D11S3744;G33105;GDB:631802;RH11707;RH48703;SGC31567 CANP;CANP1;CANPL1;muCANP;muCL CANP 1;OTTHUMP00000230448;OTTHUMP00000230452;OTTHUMP00000230453;OTTHUMP00000230454;OTTHUMP00000230461;calcium-activated neutral proteinase 1;calpain 1;calpain mu-type;calpain, large polypeptide L1;calpain-1 catalytic subunit;calpain-1 large subunit;cell proliferation-inducing gene 30 protein;cell proliferation-inducing protein 30;micromolar-calpain APPROVED protein-coding ENSG00000014216 1476 00253 114220 REVIEWED 1342957 CAPN11 calpain 11 Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq, Dec 2008] 6 6 6 p12 45679690 45705285 + 44234526 44260117 + 44126548 44152139 + 1580863;6480464 10409436;16541461;16344560;15489334;12477932;10340998;8070630;2479145 11131 E9PIX3;E9PQZ4;F5GX91;Q9UMQ6 ABBA01050646;ABBA01050647;ABBA01050648;AJ242832;AK300107;AK309883;AK314054;AL365192;AMYH01016319;BC033733;BG721593;CH471081;DB052011;NM_007058 AAH33733;ADZ15500;BAG36761;BAG61902;CAB52137;EAX04250;EAX04251;EAX04252;EAX04253;NP_008989;Q9UMQ6 Hs.225953 1334933;2109105 CAPN11_9225;D6S1650 calpain11 CANP 11;OTTHUMP00000016505;calcium-activated neutral proteinase 11;calpain-11 APPROVED protein-coding ENSG00000137225 1478 05315 604822 REVIEWED 732443 CAPN10 calpain 10 Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010] 2 2 q37.3 241174818 241205795 + 241526133 241538526 + 737693;1625047;734686;1625046;1625049;1625050;1580863;1625063;4107073;4107074;6480464;7247733;7247735;7247732;7247734;7247736;7240710 14658759;16752174;11673414;17106059;16721485;14646187;20178008;19688040;22012129;18554168;22568896;20406624;11018080 18452715;18367022;18248681;18241614;18167206;17964829;17855447;17601994;17570749;17560157;17559371;17511963;17454172;17382509;16873988;16857402;16837224;16546286;16456802;16427731;16377260;16344560;16333311;16306378;16186407;16028216;15926113;15862281;15860244;15793266;15696376;15652721;15641690;15489334;15240652;15172858;14974344;14759258;14749261;14741193;14730479;14702039;14642065;14602801;14574648;14500039;12905623;12519860;12477932;12453914;12161543;12145185;12974673;17572128;15044459;15471947;19418728;19387820;19337008;19336475;19297292;19193380;19144693;18936436;18722363;18701098;18698425;18683748;18487065;12133483;12107745;12107735;12107250;12083814;12050223;12046551;11980626;11978669;11978665;11935160;11932299;11891618;11891023;11872216;11836299;11774208;11756349;11756346;11736815;11704924;11522685;11481585;11375982;11347906;11017071;9396712;12137596;22796443;11350192;20570542;20667559;20682687;19491387;19565864;19578796;19643578;19752882;19948975;20075150;20119856;20142250;20193213;20368234;20470430;20848425;20881413;20923526;23262350;21389182;19570442;22384174;21906115 11132 B7WPF5;H7C251;H7C2P1;Q9HC91 AB058748;ABBA01048874;ABBA01048875;AC124862;AF089088;AF089090;AF089091;AF089092;AF089093;AF089094;AF089096;AF158748;AK027330;AK074807;AK128552;AK300279;AL558905;AMYH01011623;AU310002;BC004260;BC007553;BC107088;BI909439;BQ052841;BQ962770;CH471063;DA413480;DA623373;DB224752;NG_011558;NM_023083;NM_023085 AAG17966;AAG17968;AAG17969;AAG17970;AAG17971;AAG17972;AAG17974;AAH04260;AAH07553;AAX88944;ABM84445;ABM87502;BAB47474;BAC11220;BAH13249;EAW71197;EAW71199;EAW71204;EAW71205;EAW71206;NP_075571;NP_075573;Q9HC96 Hs.728234 1667769;1678617;1721391;1776059;1781326;1781328;1781330 G31184;G31185;G31186;G59697;RH46532;RH80243;WI-15718 CANP10;NIDDM1 CANP 10;OTTHUMP00000164509;OTTHUMP00000201396;OTTHUMP00000201422;OTTHUMP00000201424;OTTHUMP00000201425;OTTHUMP00000201427;OTTHUMP00000201428;calcium-activated neutral protease;calcium-activated neutral proteinase 10;calpain-10;calpain-like protease CAPN10 2315054;2315066;2315772 GLUCO131_H;GLUCO132_H;GLUCO146_H APPROVED protein-coding ENSG00000142330 1477 05595 601283;605286 REVIEWED 1349624 CAPN13 calpain 13 The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012] 2 2 2 p22-p21 30788751 30873413 - 30799141 30883815 - 30945637 31030311 - 15815621;15489334;14702039;12477932;11675017;10964513;10737800;20379614;20591971 92291 F5GYA7;F8W7Z8;H7C1Z4;Q6MZZ7 ABBA01074848;ABBA01074849;ABBA01074850;AC092569;AK026692;AK027176;AK074418;AK290298;AK308037;AMYH01010218;BC117345;BC117347;BM127691;BX476842;BX640793;BX647678;CH471053;NM_144575 AAI17346;AAI17348;AAX82015;ADR83092;BAB85075;BAF82987;CAE45878;EAX00491;EAX00492;EAX00493;NP_653176;Q6MZZ7 Hs.660911 1336214;1683755;1713973;1715537;1852572 D2S375;RH119416;RH120912;RH47910;SHGC-1668 FLJ23523 CANP 13;OTTHUMP00000201117;OTTHUMP00000201118;calcium-activated neutral proteinase 13;calpain-13 APPROVED protein-coding ENSG00000162949 16663 07008 610228 VALIDATED 1315174 CAPN15 calpain 15 This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 778242 804990 + 517857 544637 + 577856 604636 + 1580863;6480464 9722942;15489334;12477932;11157797;11076863;10524757;8640222;21139048;21890473;21906983;21987572;21963094;22053931;23263863 6650 H3BR03;H3BT55;H3BTS4;O75808 ABBA01030363;ABBA01030364;AE006464;AMYH01006995;BC001869;BC011939;BC021854;BC032648;BC040169;BC044259;BC112918;BX341589;CH471112;NM_005632;U69557;U85647;Z97986;Z98882 AAC33822;AAH01869;AAH21854;AAI11933;AAI12919;AAI18502;AAK61233;EAW85803;NP_005623;O75808 Hs.632219 1698932 RH103035 CAPN15;MGC131491 OTTHUMP00000147599;calpain-15;small optic lobes homolog APPROVED protein-coding ENSG00000103326 11182 07220 603267 REVIEWED 736537 CAPN8 calpain 8 1 1 1 q41 196935481 197009067 - 221866556 221920053 - 223714972 223853436 - 632482;6480464 7690035 17646163;16344560;16341674;12477932;11523006;11516996;11329013;8889549 388743 A3QK36;A3QK37;A6NHC0;B1B153;B1B154;H0YDN4;H0YEJ4;H0YEQ4 ABBA01006375;ABBA01008159;ABBA01008160;AC099065;AMYH01001752;AMYH01001753;AMYH01001754;AMYH01001755;AMYH01001756;AMYH01001757;AMYH01001758;AMYH01001759;BC157893;BG187068;BM739137;BM843240;CR628412;CR848842;DA874912;NM_001143962 A6NHC0;AAI57894;NP_001137434 Hs.291487 1340391;1755447;1765245;1781676;2157613;2159628;7185256 D1S213;D1S2568;SHGC-142314;SHGC-148734;SHGC-155000;SHGC-76401 nCL-2 calpain-8;new calpain 2;stomach-specific M-type calpain protein-coding 1485 VALIDATED 5128765 CAPNS1P1 calpain, small subunit 1 pseudogene 1 1 1 1 p22.2 88105341 88105980 + 89632114 89632813 + 89859580 89860219 + 391053 ABBA01045587;AL691464;AMYH01000777;NG_022791 pseudo 39562 INFERRED 731876 CAPN3 calpain 3, (p94) Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008] 15 15 q15.1 40427593 40491807 + 42651698 42704515 + 69795;734687;1600769;1600777;1580863;6480464;7240710 2555341;10814721;9150160;10806331 10229226;22505582;9642272;7720071;19386580;19074885;19048948;18974005;18676612;18563459;18337726;18334579;18310072;18299526;18258189;18073330;17979987;17702496;17596655;17585039;17318636;17157502;16971480;16934440;16627476;16533054;16290124;16189514;16141003;16107503;15827562;15725583;15689361;15489334;15351423;15324660;15221789;15073171;14981715;14702039;14675785;14583192;14506720;12882647;12482600;12477932;12461690;12075569;11485017;10987085;10330340;20517216;22443334;10068445;9873017;9771675;9763216;9762961;9655129;9396712;9266733;9246005;9185618;8624690;8537379;2209092;8954122;20860623;18854869;19556129;20139084;20634290;20533264;20635405;20301490;20477750;21172462;22926650;22006685;21984748;21386772;20686565;20301582;21836041;22158424;22486197;23666804;17897354;22975586 825 F8W8F5;H3BMH1;H3BNN7;H3BS30;H3BS77;H3BSA2;H3BUR3;H3BUZ3;H3BV08;P20807 ABBA01038377;ABBA01038378;AC012651;AF127764;AF127765;AF147441;AF209502;AK027249;AK293792;AK308103;AMYH01006581;AMYH01006582;AY902237;BC003169;BC003521;BC004883;BC007810;BC067126;BC100782;BC100783;BC100784;BC107791;BC128605;BC146649;BC146672;BT007322;EU791850;EU791851;FB775530;FB775532;FB775534;FB775536;FB775538;FB775540;FB775542;NG_008660;NM_000070;NM_024344;NM_173087;NM_173088;NM_173089;NM_173090;X85030 AAD28253;AAD28254;AAH03169;AAH03521;AAH04883;AAH07810;AAH67126;AAI00783;AAI00784;AAI00785;AAI07792;AAI28606;AAI46650;AAI46673;AAL40183;AAP35986;AAW69391;ACE86752;ACE87440;ACI63187;ACI63188;BAG57205;CAA59403;CAV30722;CAV30723;CAV30724;CAV30725;CAV30726;CAV30727;CAV30728;NP_000061;NP_077320;NP_775110;NP_775111;NP_775112;NP_775113;P20807 Hs.143261 1644727;1652869;1669128;1728933;1736718;1736740;1736772;1739419;1745141;1745143;1745145;1745147;1745149;1745151;1745153;1745155;1745179;1745183;1745185;1745187;1745189;1745191;1745195;1745197;1745201;1745203;1745205;1745209;1745211;1745217;1745221;1745225;1745227;1745229;1745235;1745237;1768707;1790231;2110299;2111252;2166229;2191531;5491326 CAPN3__4505;D15S1208;D15S498;D15S741;D15S756;D15S774;D15S882E;EST160846;GDB:595491;GDB:595502;GDB:595506;GDB:595511;GDB:595521;GDB:595526;GDB:595530;GDB:595532;GDB:596044;GDB:596046;GDB:596049;GDB:596085;GDB:596146;GDB:596192;GDB:596194;GDB:596196;GDB:596199;GDB:596200;GDB:596203;GDB:596205;GDB:596208;GDB:596213;GDB:596223;GDB:596226;GDB:596229;GDB:596230;GDB:596235;GDB:596238;MARC_26098-26099:1032551724:1;PMC104364P1;RH17562;SHGC-35143;SKM-CALPOV;UniSTS:141225;WI-17962 CANP3;CANPL3;LGMD2;LGMD2A;MGC10767;MGC11121;MGC14344;MGC4403;nCL-1;p94 CANP 3;OTTHUMP00000161194;OTTHUMP00000161195;OTTHUMP00000161196;calcium-activated neutral proteinase 3;calpain 3;calpain L3;calpain p94, large [catalytic] subunit;calpain, large polypeptide L3;calpain-3;muscle-specific calcium-activated neutral protease 3 large subunit;new calpain 1 APPROVED protein-coding ENSG00000092529 1480 00255 114240;253600 REVIEWED 732800 CAPN2 calpain 2, (m/II) large subunit The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 1 1 q41-q42 221966742 222030343 + 223889295 223963720 + 1580863;1626249;6480464;6907045 17429681 16598790;16530191;16436382;16361262;16344560;16310784;15950654;15817486;15590481;15489334;15471877;15302874;14980313;14976200;14702039;14688278;12783889;12665801;12477932;12150984;12130691;12070670;12000759;11853546;11673052;11517928;11387205;11023826;10944468;10830966;10671558;10666632;9562261;9407132;9337844;9213221;8900201;8561910;3038169;2852952;2539381;10639123;19074885;18568448;18340456;18332219;18032503;17650508;17596297;17359359;17261541;17192410;16816119;16652152;22623320;22711986;2209092;1527057;1067155;8954122;11483505;21185840;21374734;10978167;17643375;19422794;19720936;19752040;19756344;19861418;19946123;20041182;20070945;20150423;20193680;20379614;20453000;9873017;19913121;20628086;20618160;20730561;20729206;20924799;21152086;22629380;22863883;22990118;21086148;21117903;22745213;21839844;18239623;23389291;21139048;21890473;21906983;22064597;22335024;22435971;14993287;21963094;23000965;23140395;23538341;23667531;17897354;20962236 824 B4DN77;C9JWY7;P17655;Q59EF6 AB209855;ABBA01008155;ABBA01008156;ABBA01008157;ABBA01008158;AC096542;AC099065;AF261089;AI089162;AK023851;AK056838;AK097247;AK124751;AK297800;AK303952;AK315179;AK316211;AMYH01001760;AMYH01001761;AY835586;BC007686;BC011828;BC021303;CH471100;DA448245;J04700;M23254;NM_001146068;NM_001748 AAA35645;AAA52760;AAF99682;AAH07686;AAH11828;AAH21303;AAV80421;ABM84238;ABM84546;ABW03605;BAC85936;BAD93092;BAG37620;BAG53441;BAG60139;BAG64879;BAH14582;EAW93249;EAW93250;EAW93251;NP_001139540;NP_001739;P17655 Hs.350899 1652057;2115825;2133079;2142765;2164828;5022578 AL009595;D1S1423;D1S2550;D1S3584;SHGC-76403;UniSTS:56629 CANP2;CANPL2;CANPml;FLJ39928;mCANP CANP 2;M-calpain;OTTHUMP00000035497;calcium-activated neutral proteinase 2;calpain 2;calpain 2, large [catalytic] subunit;calpain 2, large subunit;calpain M-type;calpain large polypeptide L2;calpain, large polypeptide L2;calpain-2 catalytic subunit;calpain-2 large subunit;millimolar-calpain 2289325 BW86_H APPROVED protein-coding ENSG00000162909 1479 00254 114230 REVIEWED 734276 CAPN6 calpain 6 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009] X X X q23 110967943 110993390 - 110374987 110400407 - 110488327 110513774 - 635266;1580863;6480464 9503024 9339374;21681744;18657900;15772651;15489334;12477932;10340998;8163008;16344560;20414141;8401585;19913121;20628086;17210638 827 F5GWQ6;Q9Y6Q1 A98730;AA368247;ABBA01043322;ABBA01043323;ABBA01043324;AF029232;AJ000388;AK300340;AK312701;AL031117;AMYH01022840;AY800242;BC000730;CH471120;DA863483;L32067;NG_015962;NM_014289 AAB86605;AAH00730;AAV41896;ABM82777;ABM85967;BAG35579;BAG62085;CAA04051;CAB70568;EAX02650;EAX02651;NP_055104;Q9Y6Q1 Hs.496593 1645334;1691670;1702454;2187278;5119184 AL023597;AL032604;DXS1252;DXS7540;SGC32977 CANPX;CAPNX;CalpM;DJ914P14.1 OTTHUMP00000023858;calpain-6;calpain-like protease X-linked;calpamodulin APPROVED protein-coding ENSG00000077274 1483 02145 300146 REVIEWED 1312532 CAPN7 calpain 7 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008] 3 3 3 p24 15185995 15232682 + 15222737 15269427 + 15247733 15294423 + 1580863;6480464 12477932;11342116;14702039;17986458;10051333;8889548;8163008;20849418;21963094;23497113;21890473;21906983;21616915;22505724 23473 F8WCZ1;F8WDQ3;H7C0F1;H7C1B7;Q7Z479;Q9Y6W3 AB028639;ABBA01025142;ABBA01025143;ABBA01025144;AC087590;AK093742;AK314253;AMYH01013001;BC056202;BI464220;BM974327;BX502535;CH471055;NM_014296 AAH56202;ADZ16049;BAA78730;BAG36919;EAW64223;EAW64224;NP_055111;Q9Y6W3 Hs.595234 1683255;1753605;2121447;2124861;2158282 G16595;RH66709;RH68909;SHGC-107505;SHGC-64041 CALPAIN7;FLJ36423;PALBH OTTHUMP00000160302;calpain like protease;calpain-7;homolog of Aspergillus Nidulans PALB;palB homolog APPROVED protein-coding ENSG00000131375 1484 05908 606400 REVIEWED 731611 CAPN9 calpain 9 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q42.11-q42.3 204149151 204203730 + 228949753 229004372 + 230883130 230937749 + 724622;734688;1580863;6480464 9524069;10835488 19074885;17157313;12477932;11516996;9917325;8561910;20379614;20453000;23049088 10753 E7ESS6;O14815;Q6PIV8 AB038463;ABBA01033028;ABBA01033029;AF022799;AK298024;AK309039;AK313629;AL512328;AL591291;AMYH01001814;AY874864;BC027993;CH471098;FO393421;NM_006615;NM_016452 AAB80762;AAH27993;AAW49735;BAA92137;BAG36389;BAG60326;EAW69920;EAW69921;EAW69922;NP_006606;NP_057536;O14815 Hs.498021 1336310;1764693;1765383;1852539;2126263;2145576 AL009462;D1S1656;D1S3730;G15722;SHGC-148285;SHGC-148871 GC36;nCL-4 OTTHUMP00000035899;OTTHUMP00000035900;calpain 9 (ncl-4);calpain-9;digestive tract-specific calpain;new calpain 4;novel calpain large subunit-4 2289325 BW86_H APPROVED protein-coding ENSG00000135773 1486 05909 606401 REVIEWED 731758 CAPN5 calpain 5 Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008] 11 11 q14 76455640 76514849 + 76777992 76837201 + 635266;1580863;6480464 9503024 9339374;18829447;18787380;18657264;17227582;16396936;15489334;15464980;14702039;12477932;11517927;11168679;9367857;8889548;19913121;20628086;19734545;19948975;20200332;21139048;21906983;23055945 726 E7EV01;E9PS73;K7EP62;O15484 AB209087;ABBA01017439;ABBA01017440;ABBA01017441;AK092880;AK094150;AK128124;AK129588;AK310978;AK313132;AMYH01003823;AP000752;BC018123;BM679546;CH471076;NG_033002;NM_004055;U94346;Y10552 AAC51869;AAH18123;ABM82528;ABW03388;BAC85188;BAC87282;BAD92324;BAG52829;CAA71584;EAW75014;EAW75015;EAW75016;NP_004046;O15484 Hs.248153 1652209;1660070;1661768;1678357;1737065;1737663;1778290;2107453;2136136;2149504;2181240;2220364;5022200 A003B31;A006A01;D11S2312E;D11S2819;D11S3269;L18426;OMP;OMP__7185;RH47480;RH70524;RH78791;UniSTS:480807;WI-18290 FLJ46245;HTRA3;nCL-3 OTTHUMP00000228836;OTTHUMP00000228838;OTTHUMP00000228839;calpain htra-3;calpain-5;new calpain 3 APPROVED protein-coding ENSG00000149260 1482 03963 602537 REVIEWED 1313896 CAPRIN1 cell cycle associated protein 1 11 11 11 p13 34220789 34271699 + 34029806 34080733 + 34073230 34124157 + 1580863;6480464 17353931;21145461;7657653;17210633;16177067;15471883;14764709;12477932;11060040;8786113;12183049;18029348;20516077;19250063;20696395;16055720;22737234;21182205;21832049;22939629;20360068;21139048;21890473;21906983;19542561;22586326;21628590;23097442;22053931;22174317;22505724 4076 E9PLA9;E9PP31;G3V153;Q14444 ABBA01060876;ABBA01060877;AC090469;AF086078;AK127972;AK299720;AMYH01003486;BC001731;BC015700;BC026302;BK001101;BK001104;BR000867;CH471064;JA385098;JA385100;NM_005898;NM_203364;X89572;Z48042 AAH01731;ABW03502;ABW03810;ABW03918;BAG54610;BAG61620;CAA61751;CAA88096;CCB07370;CCB07371;DAA01118;DAA01121;EAW68176;EAW68177;EAW68178;EAW68179;EAW68180;FAA00692;NP_005889;NP_976240;Q14444 Hs.471818 1676862;1677338;1679479;1688845;1689410;1693604;1719879;2137106;2137521;2141626;2165393;5018347;5124633 RH123632;RH12452;RH142945;RH27392;RH64874;RH79878;RH80676;RH93956;RH98715;SHGC-58520;STS-L37771;STS-T10644;WI-19568 GPIAP1;GPIP137;M11S1;RNG105;caprin-1;p137GPI GPI-anchored membrane protein 1;GPI-anchored protein p137;GPI-p137;OTTHUMP00000232328;OTTHUMP00000232330;OTTHUMP00000232331;OTTHUMP00000232929;OTTHUMP00000232930;RNA granule protein 105;activation/proliferation-associated protein 1;caprin 1;caprin-1;cell cycle-associated protein 1;cytoplasmic activation- and proliferation-associated protein 1;cytoplasmic activation/proliferation-associated protein-1;membrane component chromosome 11 surface marker 1;membrane component, chromosome 11, surface marker 1 protein-coding ENSG00000135387 6743 03108 601178 VALIDATED 1345503 CAPNS2 calpain, small subunit 2 16 16 16 q12.2 40114807 40115815 + 54158085 54159093 + 55600584 55601592 + 1580863;6480464 15489334;12477932;11853546;15590481;17207965;19913121;20628086;21832049;23408906;23390828 84290 Q96L46 ABBA01066525;AC007336;AMYH01007681;AY052551;BC005397;BC006000;CH471092;NM_032330 AAH05397;AAH06000;AAL02241;ACE87747;ADQ32630;EAW82830;NP_115706;Q96L46 Hs.660027 MGC12536;MGC14804 CSS2;OTTHUMP00000236926;calcium-dependent protease small subunit 2;calpain small subunit 2 protein-coding ENSG00000256812 16371 16682 VALIDATED 1604605 CAPRIN2 caprin family member 2 The protein encoded by this gene may be involved in the transitioning of erythroblasts from a highly proliferative state to a terminal phase of differentiation. High level expression of the encoded protein can lead to apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 12 12 12 p11 36005312 36050258 - 30753753 30798715 - 30862486 30907448 - 6480464 14593112;18762581;16094384;14764709;14702039;12477932;11347906;21145461;20516077 65981 F5GXI7;F5GYA1;F5GZX3;F5H142;F5H5J8;F5H7T6;H0YGG3;H0YID4;H3BM22;H7BXN4;Q96RN6 AB058776;ABBA01068089;AC010198;AF326778;AF525416;AK021453;AK024247;AK026222;AL834212;AMYH01004361;AY074490;AY074491;BC007520;BC025420;BC066295;BC111007;BC117672;BC117673;BK001102;BK001103;BQ010043;BR000870;BX537569;BX538080;CH471094;NG_029557;NM_001002259;NM_001206856;NM_023925;NM_032156;NR_038177 AAH66295;AAI11008;AAI17673;AAI17674;AAK83153;AAL71549;AAL71550;AAP80792;BAB13830;BAB15398;BAB47502;CAD97786;CAD98004;DAA01119;DAA01120;EAW96608;EAW96609;EAW96610;EAW96611;EAW96612;EAW96613;EAW96614;EAW96615;EAW96616;FAA00695;NP_001002259;NP_001193785;NP_076414;NP_115532;Q6IMN6 Hs.234355 1664569;1726007;1740149;1852211;2171514;2171516;5022651;5037552 A006H42;A006S17;D11S2921;D12S1577;D12S1821;D8S2279;G20824;G62362 C1QDC1;EEG-1;EEG1;FLJ11391;FLJ22569;KIAA1873;MGC102894;MGC134847;MGC134848;RNG140;caprin-2 C1q domain containing 1;C1q domain-containing protein 1;OTTHUMP00000240356;OTTHUMP00000240689;OTTHUMP00000240691;OTTHUMP00000240692;OTTHUMP00000240693;RNA granule protein 140;caprin-2;cytoplasmic activation/proliferation-associated protein 2;gastric cancer multidrug resistance-associated protein;protein EEG-1 APPROVED protein-coding ENSG00000110888 21259 12711 610375 REVIEWED 1352276 CAPZA1P capping protein (actin filament) muscle Z-line, alpha 1 pseudogene X X X q21.3 87588102 87590440 - 87238048 87238902 - 87349921 87352259 - 11499681 53338 ABBA01051962;AF284769;AL024493;AMYH01022675;NG_001277 pseudo 1489 INFERRED 735486 CAPNS1 calpain, small subunit 1 Calpains are a ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. Calpain families have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. Calpain I and II are heterodimeric with distinct large subunits associated with common small subunits, all of which are encoded by different genes. This gene encodes a small subunit common to both calpain I and II and is associated with myotonic dystrophy. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 19 19 q13.12 41322758 41333095 + 36630918 36641255 + 1580863;6480464 8702541;10639123;18029348;18544539;18234454;16169070;15611136;15489334;15057824;12684003;12591934;12477932;12358155;12121983;11673052;11517928;11516996;10737800;10666632;10661889;9326644;9110174;8619474;8561910;3024120;3016651;2209092;1656060;17643375;18761085;19942621;20107320;20419804;19913121;20628086;21268016;22863883;22939629;21151833;21890473;21906983;22118674;22318606;19738201;21963094;21988832;22623428;23349941 826 K7EIV0;K7EK10;K7EKD8;K7ELJ7;K7EM73;K7EMQ1;K7EP80;K7ES78;K7ES82;P04632 ABBA01018779;AC002984;AD001527;AK289606;AMYH01009738;AMYH01009739;AY007141;AY789642;BC000592;BC007779;BC011903;BC017308;BC018931;BC021933;BC023643;BC064998;BF822052;BQ898664;BT009775;M31501;M31511;NM_001003962;NM_001749;X04106;X64180;X64190 AAA35646;AAB51183;AAB81546;AAH00592;AAH07779;AAH11903;AAH17308;AAH18931;AAH21933;AAH23643;AAH64998;AAP88777;AAV40829;BAF82295;CAA27726;NP_001003962;NP_001740;P04632 Hs.515371 1665842;1734642;2155827;2168428;2177925;5022716 CAPNS1;D19S1102;D19S640E;G13289;RH69431;STS-X04106 30K;CALPAIN4;CANP;CANPS;CAPN4;CDPS;CSS1 CANP small subunit;calcium-activated neutral proteinase small subunit;calcium-dependent protease small subunit 1;calcium-dependent protease, small subunit;calpain 4, small subunit (30K);calpain regulatory subunit;calpain small subunit 1;calpain, small polypeptide APPROVED protein-coding ENSG00000126247 1481 00240 114170 REVIEWED 1320373 CAPS2 calcyphosine 2 Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008] 12 12 12 q14.1 75337122 75391273 - 73957276 74070969 - 75669759 75723836 - 6480464 15489334;14702039;14530279;12477932;11846421;1184642 84698 A2RRN2;B9A061;C9J524;F8VWP7;F8VZC3;F8W927;H7BXT1;Q9BXY5 ABBA01026470;AC091534;AC092552;AC121761;AF251056;AF351611;AK091839;AK092274;AMYH01004591;AMYH01004592;BC033860;BC056672;BC131724;CH471054;NM_032606 AAH56672;AAI31725;AAK34946;AAN76511;BAC03759;BAC03845;EAW97296;EAW97297;EAW97298;EAW97299;EAW97300;NP_115995;Q9BXY5 Hs.733835 2110303 CAPS2__4508 FLJ34520;UG0636c06 OTTHUMP00000202411;OTTHUMP00000202412;OTTHUMP00000229610;calcyphosin-2;calcyphosine-2;calcyphosphine 2 APPROVED protein-coding ENSG00000180881 16471 09659 607724 VALIDATED 1348480 CAPS calcyphosine This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants. [provided by RefSeq, Jul 2008] 19 19 p13.3 5865219 5866886 + 5914193 5916222 + 1580863;6480464 2540953;19275752;18775726;18729184;15489334;15057824;12477932;9224948;9125191;8889548;8125298;2265558;20468064;18029348 828 K7EL21;K7ES72;Q13938;Q96ET4 ABBA01055983;AC004602;AC104532;AK090469;AK226026;AMYH01009367;AW510425;BC011961;BC019065;BC080599;BC101513;BC104766;BG768134;BU689238;CH471139;CS300742;CS300743;NM_004058;NM_080590;X97966 AAC14484;AAH11961;AAH80599;AAI01514;AAI04767;BAC03450;CAA66609;CAK32406;CAK32407;EAW69125;EAW69126;EAW69127;EAW69128;NP_004049;NP_542157;Q13938 Hs.584744 2129061;5014019;5014039;5015619;5015961;5016478;5016781;5017227;5020946;5022200;5022322;5022578;5037552;5493005 D11S2560;D11S3114;D15S1477;D1S1423;D22S1584;D5S2354;D8S2279;G38154;GDB:434012;L17971;L18426;RH78172;SHGC-67307;UniSTS:483678 CAPS1;MGC126562 calcyphosin;calcyphosine 1;thyroid protein p24 APPROVED protein-coding 1487 00250 114212 VALIDATED 1601932 CAPSL calcyphosine-like 5 5 5 p13.2 35790080 35824563 - 35940154 35974638 - 35904397 35938881 - 6480464 18563381;17554260;15489334;12477932;8889549;8889548;21832049 133690 D6RF97;D6RHD7;Q8WWF8 ABBA01024158;AC112204;AMYH01015024;BC017586;BM975803;CD687387;CH471119;NM_001042625;NM_144647;W25222 AAH17586;ADZ16101;EAW55926;NP_001036090;NP_653248;Q8WWF8 Hs.55150 1719525 RH123495 MGC26610 OTTHUMP00000161737;OTTHUMP00000221227;OTTHUMP00000222243;calcyphosin-like protein protein-coding ENSG00000152611 28375 14506 VALIDATED 1319685 CARD11 caspase recruitment domain family, member 11 The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008] 7 7 p22 2912295 3050105 - 2945709 3083509 - 1580863;6480464;6907045 11278692;16809782;12154360;15122200;15125833;15541657;17468049;19104039;18625728;18323416;18231929;17428801;17287217;16520020;16508008;16356856;16356855;16301747;15802604;15184390;14739370;14702039;14673152;12690205;12477932;12356734;12154356;11356195;11259443;8889549;9847074;22528498;22808296;21266526;16825666;17047224;17293856;19444310;19706536;20164171;20237496;21157432;20544211;21172665;20799731;21176849;22397314;23027925;23129749;23374270;22411628;23632891;23690623;20008554;21905497;21569705;22303480;22371397;21513986;19815501;21900206;22075698;17363905;23264041;23322406;23042114;23128233;23218918;18806265;23149938 84433 E2QRC0;H7BY05;Q8TES3;Q9BXL7 AA194010;AA594170;AACC02000053;ABBA01039390;ABBA01039391;ABBA01039392;ABBA01039393;ABBA01039394;AC004906;AC024028;AC092689;AF322641;AF352576;AK074049;AK097139;AMYH01016981;AMYH01016982;AMYH01016983;AW139089;BC111719;CH236953;CH471144;NG_027759;NM_032415 AAG53402;AAI11720;AAL34460;AAQ96893;BAB84875;EAL23962;EAW87276;EAW87277;EAW87278;EAW87279;NP_115791;Q9BXL7 Hs.648101 1336846;1771574;2119980;2166791;2217106;5022651;7185207 CARD11_3630;D11S2921;D7S2484;G09444;GDB:1318525;RH65749 BENTA;BIMP3;CARMA1;MGC133069;PPBL CARD-containing MAGUK protein 1;OTTHUMP00000024641;bcl10-interacting maguk protein 3;card-maguk protein 1;carma 1;caspase recruitment domain-containing protein 11 APPROVED protein-coding ENSG00000198286 16393 06234 607210;615206 REVIEWED 1353508 CAPZA3 capping protein (actin filament) muscle Z-line, alpha 3 This gene encodes an actin capping protein, one of the F-actin capping protein alpha subunit family. The encoded protein is predominantly localized to the neck region of ejaculated sperm, other immunohistochemical signals were found in the tail and postacrosomal regions. The encoded protein may also form heterodimers of alpha and beta subunits. This protein may be important in determining sperm architecture and male fertility. [provided by RefSeq, Jul 2008] 12 12 12 p12.3 24036563 24037640 + 18782312 18783389 + 18891045 18892122 + 1580863;6480464 15489334;14702039;12477932;12029070;10524250;7957958;19913121;20628086;21139048 93661 Q96KX2 AB053259;ABBA01067925;AC087242;AK058174;AMYH01004310;BC016745;BG772483;CH471094;HC006864;NM_033328 AAH16745;ADZ15357;BAB61901;BAB71703;CBH19237;EAW96391;NP_201585;Q96KX2 Hs.131288 CAPPA3;Gsg3 CP-alpha-3;CapZ alpha-3;F-actin capping protein alpha-3 subunit;F-actin-capping protein subunit alpha-3;OTTHUMP00000239909;germ cell-specific protein 3 APPROVED protein-coding ENSG00000177938 24205 12282 608722 REVIEWED 1314786 CAPZA1 capping protein (actin filament) muscle Z-line, alpha 1 CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq, Jul 2008] 1 1 p13.2 112963598 113015764 + 113162075 113214241 + 1580863;6480464 9828130;7665558;17353931;16130169;9331217;18321953;16987810;16710414;16344560;15489334;12690097;12488317;12480931;12477932;12470955;9803314;9354614;9119363;8639502;8125298;1602151;21145461;21572416;19615732;19922875;16054028;22863883;22990118;22939629;23084401;23106098;23184937;16196087;21566537;21800051;17620599;21822214;18457437;21139048;21890473;21906983;19322201;21628590;22706086;16678097;22070227;20697350;20876399;20884878;22505724;9852149 829 P52907 ABBA01068413;ABBA01068414;ABBA01068415;ABBA01068416;AJ227918;AK223226;AK289654;AL603832;AL929470;AMYH01000949;BC000144;BC034391;BT019364;BX648738;CH471122;CR407657;CR541819;DB233456;NM_006135;U56637 AAC00533;AAH00144;AAV38171;ABM81680;ABM84845;BAD96946;BAF82343;CAG28585;CAG46618;EAW56525;EAW56526;EAW56527;NP_006126;P52907 Hs.514934 1335693;2147819;7186593 D1S487;SHGC-75335 CAPPA1;CAPZ;CAZ1 Cap Z;F-actin-capping protein subunit alpha-1;OTTHUMP00000013512;capZ alpha-1 APPROVED protein-coding ENSG00000116489 1488 03347 601580 REVIEWED 1605176 CARD17 caspase recruitment domain family, member 17 11 11 11 q22.3 102127380 102136342 - 104468406 104477368 - 104963196 104972158 - 15383541 440068 Q5XLA6 ABBA01039912;AMYH01004003;AP001153;AY761064;CH471065;NM_001007232 AAI46364;AAV28630;EAW67064;NP_001007233;Q5XLA6 Hs.732627 1652545 STS-N29857 INCA Inhibitory CARD;OTTHUMP00000232067;caspase recruitment domain-containing protein 17;caspase-1 inhibitor INCA;inhibitory caspase recruitment domain (CARD) protein;inhibitory caspase recruitment domain protein protein-coding ENSG00000255221 33827 17149 609490 PROVISIONAL 1350794 CAPZA2 capping protein (actin filament) muscle Z-line, alpha 2 The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008] 7 7 7 q31.2-q31.3 111310094 111366812 + 116289799 116346549 + 116502563 116559313 + 1580863;6480464 17353931;9331217;18029348;17567994;15489334;12853948;12690205;12665801;12477932;12029070;8125298;7665558;1602151;16054028;12470955;22863883;17620599;21822214;18624398;21139048;21890473;21906983;19322201;20697350;20876399;22505724 830 A4D0V4;B4DG50;C9J7V0;C9JCZ4;C9JUG7;F8W9N7;F8WED3;P47755 AACC02000001;ABBA01057804;ABBA01057805;AC002543;AK222989;AK223004;AK293405;AK294409;AK311406;AK314808;AK315915;AMYH01017883;AMYH01017884;BC005338;BC015963;BI553815;BT006735;BX386541;CH236947;CH471070;DQ655955;DQ655956;NM_006136;U03269;U03851 AAA88848;AAC00534;AAC60382;AAH05338;AAP35381;BAD96709;BAD96724;BAG37333;BAG56912;BAG57661;BAH14286;EAL24358;EAW83512;EAW83513;EAW83514;EAW83515;NP_006127;P47755 Hs.446123 1654383;1672294;1704860;1711748;1711750;1711752;1800042;1801352;1802710;1802712;1804482;1804818;1804864;1805446;1805650;1808304;1809008;1810454;1814754;1814830;1814978;1817200;1820110;1820464;1821304;1822074;1823038;1823916;1826566;1827024;1830604;1831148;1831412;1833574;1833620;1834536;1834538;1834720;1834770;1834810;1835134;1835880;1836126;1836176;1836900;1837694;1837942;1841184;1841414;1841480;1841544;1841738;1843134;1843580;1844204;1845294;1845296;1845556;1845558;1845836;1853278;1989030;1989032;1989034;1989036;1989038;1989040;1989042;1989044;1989046;1989048;1989050;1989052;1989054;1989056;1989058;1989060;1989062;1989064;1989066;1989068;1989070;1989072;1989074;1989076;1989078;1989080;1989082;1989084;1989086;1989088;1989090;1989092;1989094;1989096;1989098;1989100;1989102;1989104;1989106;1989108;1989110;1989112;1989114;1989116;1989118;1989120;1989122;1989124;1989126;1989128;1989130;1989132;1989134;1989136;1989138;1989140;1989142;1989144;1989146;1989148;1989150;1989152;1989154;1989156;1989158;1989160;1989162;1989164;1989166;1989168;1989170;1989172;1989174;1989176;1989178;1989180;1989182;1989184;1989186;1989188;1989190;1989192;1989194;1989196;1989198;1989200;1989202;1989204;1989206;1989208;1989210;1989212;1989214;1989216;1989218;1989220;1989222;1989224;1989226;1989228;1989230;1989232;1989234;1989236;1989238;1989240;1989242;1989244;1989246;1989248;1989250;1989252;1989254;1989256;1989258;1989260;1989262;1989264;1989266;1989268;1989270;1989272;1989274;1989276;1989278;1989280;1989282;1989284;1989286;1989288;1989290;1989292;1989294;1989296;1989298;1989300;1989302;1989304;1989306;1989308;1989310;1989312;1989314;1989316;1989318;1989320;1989322;1989324;1989326;1989328;1989330;1989332;1989334;1989336;1989338;1989340;1989342;1989344;1989346;1989348;1989350;1989352;1989354;1989356;1989358;1989360;1989362;1989364;1989366;1989368;1989370;1989372;1989374;1989376;1989378;1989380;1989382;1989384;1989386;1989388;1989390;1989392;1989394;1989396;1989398;1989400;1989402;1989404;1989406;1989408;1989410;1989412;1989414;1989416;2093740;2093742;2093744;2093746;2093748;2093750;2093752;2093754;2093756;2093758;2093760;2093762;2093764;2093766;2093768;2093770;2093772;2093774;2093776;2093778;2093780;2093782;2093784;2093786;2093788;2093790;2093794;2093796;2093798;2093800;2093802;2093804;2093806;2093808;2093810;2093812;2093814;2093816;2128426;2128945;2148888;5092350 D7S2776;ECD00876;ECD01548;ECD02242;ECD02243;ECD03166;ECD03342;ECD03367;ECD03671;ECD03775;ECD05133;ECD05487;ECD06220;ECD08408;ECD08446;ECD08520;ECD09650;ECD11128;ECD11307;ECD11732;ECD12123;ECD12607;ECD13052;ECD14397;ECD14627;ECD16438;ECD16710;ECD16842;ECD17930;ECD17955;ECD18416;ECD18417;ECD18508;ECD18533;ECD18553;ECD18722;ECD19101;ECD19224;ECD19249;ECD19614;ECD20014;ECD20142;ECD21787;ECD21903;ECD21936;ECD21969;ECD22068;ECD22775;ECD22999;ECD23315;ECD23864;ECD23865;ECD23996;ECD23997;ECD24137;G10671;G49382;G49383;G49384;G49385;REN65419;REN65420;REN65421;REN65422;REN65423;REN65424;REN65425;REN65426;REN65427;REN65428;REN65429;REN65430;REN65431;REN65432;REN65433;REN65434;REN65435;REN65436;REN65437;REN65438;REN65439;REN65440;REN65441;REN65442;REN65443;REN65444;REN65445;REN65446;REN65447;REN65448;REN65449;REN65450;REN65451;REN65452;REN65453;REN65454;REN65455;REN65456;REN65457;REN65458;REN65459;REN65460;REN65461;REN65462;REN65463;REN65464;REN65465;REN65466;REN65467;REN65468;REN65469;REN65470;REN65471;REN65472;REN65473;REN65474;REN65475;REN65476;REN65477;REN65478;REN65479;REN65480;REN65481;REN65482;REN65483;REN65484;REN65485;REN65486;REN65487;REN65488;REN65489;REN65490;REN65491;REN65492;REN65493;REN65494;REN65495;REN65496;REN65497;REN65498;REN65499;REN65500;REN65501;REN65502;REN65503;REN65504;REN65505;REN65506;REN65507;REN65508;REN65509;REN65510;REN65511;REN65512;REN65513;REN65514;REN65515;REN65516;REN65517;REN65518;REN65519;REN65520;REN65521;REN65522;REN65523;REN65524;REN65525;REN65526;REN65527;REN65528;REN65529;REN65530;REN65531;REN65532;REN65533;REN65534;REN65535;REN65536;REN65537;REN65538;REN65539;REN65540;REN65541;REN65542;REN65543;REN65544;REN65545;REN65546;REN65547;REN65548;REN65549;REN65550;REN65551;REN65552;REN65553;REN65554;REN65555;REN65556;REN65557;REN65558;REN65559;REN65560;REN65561;REN65562;REN65563;REN65564;REN65565;REN65566;REN65567;REN65568;REN65569;REN65570;REN65571;REN65572;REN65573;REN65574;REN65575;REN65576;REN65577;REN65578;REN65579;REN65580;REN65581;REN65582;REN65583;REN65584;REN65585;REN65586;REN65587;REN65588;REN65589;REN65590;REN65591;REN65592;REN65593;REN65594;REN65595;REN65596;REN65597;REN65598;REN65599;REN65600;REN65601;REN65602;REN65603;REN65604;REN65605;REN65606;REN65607;REN65608;REN65609;REN65610;REN65611;REN65612;RH44861;SHGC-79904;STS-U03851;WI-18209;WI-18760;stSG598217;stSG598221;stSG598222;stSG598223;stSG598224;stSG598225;stSG598226;stSG598227;stSG598228;stSG598229;stSG598230;stSG598231;stSG598232;stSG598234;stSG598235;stSG598236;stSG598237;stSG598238;stSG598239;stSG598240;stSG598243;stSG598244;stSG598245;stSG598246;stSG598248;stSG598250;stSG598252;stSG598253;stSG598254;stSG598255;stSG598256;stSG598257;stSG598258;stSG598259;stSG598260;stSG598262;stSG598263;stSG598264 CAPPA2;CAPZ F-actin capping protein alpha-2 subunit;F-actin-capping protein subunit alpha-2;OTTHUMP00000024803;capZ alpha-2 APPROVED protein-coding ENSG00000198898 1490 11871 601571 REVIEWED 1312685 CARD10 caspase recruitment domain family, member 10 The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008] 22 22 q13.1 36216346 36245156 - 37886400 37915210 - 1580863;6480464 11259443;15125833;19112107;18757306;18676680;18349075;17724468;17101977;15489334;15184390;14702039;12477932;11387339;11356195;10591208;20237496;19913121;20628086;20695076;20800603;22884800;21307088;21406399;21078624;21139048;21890473;21906983;22615840;22992343 29775 B0QYC3;B0QYC4;Q8NC81;Q9BWT7 ABBA01055469;ABBA01055470;ABBA01055471;AF086324;AK057334;AK074906;AK296176;AL022315;AL049851;AMYH01012753;AY028896;AY032928;BC032058;BC113659;BC117403;CH471095;FP325335;NM_014550 AAI13660;AAI17404;AAK26165;AAK54454;BAC11282;BAH12273;EAW60163;NP_055365;Q9BWT7 Hs.57973 1677728;1731327;2217104 CARD10_3578;D22S346;RH99263 BIMP1;CARMA3;MGC142219 Bcl10 binding protein and activator of NFKB;CARD-containing MAGUK 3 protein;CARD-containing MAGUK protein 3;OTTHUMP00000197888;OTTHUMP00000197889;OTTHUMP00000197890;carma 3;caspase recruitment domain-containing protein 10 APPROVED protein-coding ENSG00000100065 16422 06233 607209 REVIEWED 1347618 CAPZB capping protein (actin filament) muscle Z-line, beta This gene encodes the beta subunit of the barbed-end actin binding protein, which belongs to the F-actin capping protein family. The capping protein is a heterodimeric actin capping protein that blocks actin filament assembly and disassembly at the fast growing (barbed) filament ends and functions in regulating actin filament dynamics as well as in stabilizing actin filament lengths in muscle and nonmuscle cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, Apr 2011] 1 1 1 p36.1 17992290 18138980 - 19537860 19684579 - 19665267 19812066 - 1580863;6480464 7665558;17353931;16130169;16710414;16678097;16169070;15489334;12665801;22482804;12477932;21319273;12488317;15146197;17643375;19615732;19922875;20379614;16054028;9331217;21565293;14702039;9354614;21182205;22863883;22990118;22939629;22494929;20697350;20876399;20884878;22505724;21844192;19156129;21822214;22266860;18457437;21139048;21890473;21900206;21906983;22118674;16300736;21628590;22234250;22706086;22070227;19738201;22623428;23000965;23084401;23398456;23408906 832 B1AK85;B1AK87;B1AK88;F6Q0E3;F6USW4;P47756;Q7L4N0 ABBA01059758;ABBA01059759;AI799520;AK022336;AK125085;AK126650;AK301442;AK313113;AL035413;AL359199;AL445163;AMYH01000316;BC008095;BC012305;BC024601;BC069031;BC107752;BC109241;BC109242;BE870234;BQ009850;BQ773230;BT019470;BT019471;BX647941;CB267021;CH471134;CN273493;EB387955;NG_029551;NM_001206540;NM_004930;NR_038125;U03271 AAA87395;AAH08095;AAH24601;AAI07753;AAI09242;AAI09243;AAV38277;AAV38278;BAG35935;BAG54137;BAG62968;EAW94888;EAW94889;EAW94890;EAW94891;NP_001193469;NP_004921;P47756 Hs.432760 1659692;1692476;1699622;1758113;1758595;1760063;1781692;1846602;2117682;2140050;5020948;5022450 AL009488;AL033889;D10S275;D1S1674;G35510;RH103414;SHGC-107611;SHGC-147427;SHGC-148894;SHGC-155098;SHGC-175;SHGC-74331 CAPB;CAPPB;CAPZ;DKFZp686K0524;FLJ12274;FLJ44693;MGC104401;MGC129749;MGC129750 Cap Z;F-actin capping protein beta subunit;F-actin-capping protein subunit beta;OTTHUMP00000002652;OTTHUMP00000002653;OTTHUMP00000002654;OTTHUMP00000002656;OTTHUMP00000002657;capZ beta APPROVED protein-coding ENSG00000077549 1491 11872 601572 REVIEWED 1350189 CARD14 caspase recruitment domain family, member 14 This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012] 17 17 17 q25 74781528 74812042 + 75766876 75797446 + 78143791 78183130 + 1580863;6480464;7240710 22703878;11278692;16189514;15489334;14702039;12477932;11356195;11259443;18029348;19851296;20198315;20237496;16344560;21302310;22521418;22521419;23328365 79092 E7ETJ2;I3L1Z7;I3L3F1;I3L414;I3L4Q8;Q9BXL6 ABBA01015407;ABBA01015408;AC087741;AF322642;AK002138;AK054723;AK091123;AK095416;AK296762;AK309299;AMYH01008692;AMYH01008693;AMYH01008694;AX746790;AY032927;BC001326;BC018142;BU617627;CH471099;DA461380;DB314596;EU652409;NG_032778;NM_001257970;NM_024110;NM_052819;NR_047566 AAG53403;AAH01326;AAH18142;AAK54453;ACF49506;BAG59342;EAW89586;EAW89587;EAW89588;EAW89589;NP_001244899;NP_077015;NP_438170;Q9BXL6 Hs.675480;Hs.696253;Hs.735899 1707610;1710346;1773107;2157958;2219044;5015861;5015961;5016478;5024761;5037552;7185938 A005O39;CARD14_3621;D10S16;D15S1477;D8S2279;GDB:434012;RH36905;RH78492;SHGC-82425;SHGC-84620 BIMP2;CARMA2;FLJ38097;PRP;PSORS2;PSS1 CARD-containing MAGUK 2 protein;CARD-containing MAGUK protein 2;bcl10-interacting maguk protein 2;card-maguk protein 2;carma 2;caspase recruitment domain-containing protein 14 APPROVED protein-coding ENSG00000141527 16446 06235 173200;602723;607211 REVIEWED 1605643 CARD18 caspase recruitment domain family, member 18 11 11 11 q22.3 102172632 102174645 - 104513879 104515663 - 105008448 105010461 - 6480464;6907045 11051551;15383541;12975309;12477932;11821383;21048031 59082 G5EA35;P57730 ABBA01039912;AF208005;AI189838;AMYH01004003;AP003181;AW295205;AY358231;BC131610;CH471065;NM_021571 AAG23528;AAI31611;AAQ88598;EAW67065;NP_067546;P57730 Hs.56279 ICEBERG;UNQ5804;pseudo-ICE ICEBERG caspase-1 inhibitor;OTTHUMP00000232068;caspase recruitment domain-containing protein 18;caspase-1 inhibitor Iceberg protein-coding ENSG00000255501 28861 16099 605354 VALIDATED 1606185 CARD16 caspase recruitment domain family, member 16 11 11 11 102076226 102080224 - 104417263 104421261 - 104912053 104916051 - 6480464 11432859;16920334;16354923;15383541;14702039;12477932;11821383;11536016;19913121;20628086;20479761 114769 E9PQW1;Q5EG05 ABBA01039912;AF367017;AK125640;AK311902;AMYH01004002;AP001153;AY885669;BC033638;BC070196;BC104635;BC117478;BC117480;CH471065;NM_001017534;NM_052889 AAI17479;AAI17481;AAI41474;AAI48761;AAK71682;AAW78563;BAG34843;EAW67062;NP_001017534;NP_443121;Q5EG05 Hs.348365 COP;COP1;PSEUDO-ICE CARD only domain-containing protein 1;CARD only protein;OTTHUMP00000232049;OTTHUMP00000232050;caspase recruitment domain-containing protein 16;caspase-1 dominant-negative inhibitor pseudo-ICE;caspase-1 inhibitor COP;pseudo interleukin-1 beta converting enzyme;pseudo interleukin-1beta converting enzyme protein-coding ENSG00000204397 33701 16740 VALIDATED 1314062 CARD6 caspase recruitment domain family, member 6 This gene encodes a protein that contains a caspase recruitment domain (CARD), an antiparallel six-helical bundle that mediates homotypic protein-protein interactions. The encoded protein is a microtubule-associated protein that has been shown to interact with receptor-interacting protein kinases and positively modulate signal transduction pathways converging on activation of the inducible transcription factor NF-kB. [provided by RefSeq, Jul 2008] 5 5 5 p13.1 40730018 40744065 + 40877167 40891213 + 40841410 40855456 + 1580863;6480464;6907045 17081983;16582588;16418290;12775719;12477932;20025480;21890473 84674 Q6XZE5;Q9BX69 AB209844;ABBA01024225;ABBA01024226;AC008810;AC026732;AF356193;AK304349;AMYH01015049;AY196783;BC093825;CH471119;NM_032587 AAH93825;AAK32718;AAP40637;BAD93081;BAG65193;EAW56006;NP_115976;Q9BX69 Hs.200242 2106455 CARD6_3632 CINCIN1 CARD-containing inhibitor of Nod1 and Cardiak-induced NF-kB activation;OTTHUMP00000120002;caspase recruitment domain protein 6;caspase recruitment domain-containing protein 6 APPROVED protein-coding ENSG00000132357 16394 09871 609986 REVIEWED 1344005 CARM1P1 coactivator-associated arginine methyltransferase 1 pseudogene 1 9 9 9 p24.2 2861811 2971689 - 2895041 3052970 - 2943562 3053404 - 100130873 ABBA01065434;ABBA01065435;ABBA01065436;AL359077;AMYH01019193;AMYH01019194;NG_009935 1340158;1660898;1788410 D9S54;RH65521;fb73h01.x1 CARM1L;KIAA0020 APPROVED pseudo 23392 INFERRED 1351599 CARD8 caspase recruitment domain family, member 8 The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] 19 19 q13.33 53403325 53444737 - 48711343 48759203 - 1580863;5490210;6480464;6907045 19302047 22128899;15030775;11551959;19319132;19252766;19074885;18841008;18311798;18263599;18212821;18092344;17878386;17595233;17484912;17030188;16796750;15489334;12477932;12067710;11956601;11821383;11408476;10231032;12775719;20385562;21308686;19443463;19664744;19843337;19940360;20182451;20379614;20453000;16712791;20800603;23506543;23507658;23088220;21248762;21621776;22227487;19322201;22087307;23053059 22900 B7Z7N9;E5RFI5;E5RFV9;E5RGC9;E5RGG3;E5RHJ3;E5RHZ3;E5RIN1;E5RJG3;H0YB90;H0YBW7;I6L9C6;Q9Y2G2 AB023172;ABBA01033008;AC008392;AC011466;AF143869;AF322184;AF331519;AF405558;AF511652;AI040349;AK297045;AK297069;AK302327;AK311077;AK311079;AMYH01009900;AY026322;BC034564;BC041697;BC045539;BC046136;BC056891;BX641091;BX648568;CA448628;CB119078;CH471177;DC404273;EU118120;EU118121;EU118122;NG_029574;NM_001184900;NM_001184901;NM_001184902;NM_001184903;NM_001184904;NM_014959;NR_033678;NR_033679;NR_033680 AAG50014;AAH45539;AAH56891;AAK01126;AAK08982;AAL02427;AAM46959;ABW96891;ABW96892;ABW96893;BAA76799;BAH12482;BAH12488;BAH13675;CAE46043;EAW52319;EAW52320;EAW52321;EAW52322;EAW52323;EAW52324;EAW52325;NP_001171829;NP_001171830;NP_001171831;NP_001171832;NP_001171833;NP_055774;Q9Y2G2 Hs.446146;Hs.655940 1672611;1672613;1847412;2118115;2132097;5016478;5021228;5024761 D19S1010;D19S1113;GDB:312794;GDB:434012;RH16607;RH36905;SHGC-33567;WI-14251 CARDINAL;DACAR;DKFZp779L0366;Dakar;FLJ18119;FLJ18121;KIAA0955;MGC57162;NDPP;NDPP1;TUCAN CARD inhibitor of NF-kappaB-activating ligands;OTTHUMP00000228260;OTTHUMP00000228262;OTTHUMP00000228264;OTTHUMP00000228265;OTTHUMP00000228267;OTTHUMP00000228271;OTTHUMP00000228272;OTTHUMP00000228273;apoptotic protein NDPP1;caspase recruitment domain-containing protein 8;tumor up-regulated CARD-containing antagonist of CASP9;tumor up-regulated CARD-containing antagonist of caspase nine APPROVED protein-coding ENSG00000105483 17057 16425 609051 REVIEWED 732385 CARD9 caspase recruitment domain family, member 9 The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 109773344 109783069 - 138378229 138387939 - 139258408 139268133 - 1299399;1580863;6480464;6907045;7240710 11053425 22423967;17187069;18439550;17936701;15489334;15164053;14702039;12477932;11259443;16189514;20228799;19809088;19864672;19915572;20237496;20463747;21102463;21297633;21425313;21436691;21881131;21985303;22013052;21743469;22936669;23017229;23128233;23251661 64170 Q9H257 ABBA01022705;AF311287;AK024001;AK127481;AK292081;AK295647;AK309043;AL592301;AMYH01021861;BC008877;BC035805;BI524042;BM148244;CH471090;NG_021197;NM_052813;NM_052814 AAG28790;AAH08877;ABM84452;ABW03582;BAB14766;BAF84770;BAG58517;EAW88219;EAW88220;EAW88221;EAW88222;EAW88223;EAW88224;NP_434700;NP_434701;Q9H257 Hs.694071 CANDF2;hCARD9 OTTHUMP00000022569;OTTHUMP00000022571;caspase recruitment domain protein 9;caspase recruitment domain-containing protein 9 APPROVED protein-coding ENSG00000187796 16391 06236 212050;607212 REVIEWED 5683648 CARS-AS1 CARS antisense RNA 1 p15.4 14702039 100852407 AC108448;AC131971;AK093033 Hs.274873 APPROVED miscrna 40125 1315654 CARF calcium responsive transcription factor 2 2 2 q33.2 197529656 197603774 + 203485223 203559305 + 203776978 203851060 + 1580863;6480464 18555516;16344560;16189514;15815621;15489334;14702039;12477932;12154087;11832226;11586298;8125298;21832049;22446626 79800 B4DIA7;B4DIN8;C9JBK9;C9JCD6;C9JI92;C9JL40;C9JN29;C9JSN4;C9JT99;C9JZ91;C9JZI6;F6SXV3;F8WC01;F8WDH0;F8WDW1;G3V1K7;Q8N187 AB053309;AB053310;ABBA01062591;ABBA01062592;AC010900;AF454946;AK022737;AK025232;AK225218;AK295499;AK295703;AK299366;AK304014;AK308171;AK310640;AK316432;AL834188;AMYH01011415;AV751848;AY032876;BC021999;BC033777;CH471063;CK825814;DB094349;NM_001104586;NM_024744 AAH33777;AAK66819;AAL62330;AAY24288;ABM82274;ABM85454;BAB15088;BAB69018;BAB69019;BAG58419;BAG58550;BAG61358;BAG64929;BAH14803;CAD38882;EAW70320;EAW70321;EAW70322;EAW70323;EAW70324;NP_001098056;NP_079020;Q8N187 Hs.444982 1720579;1727833;1728863;2106419;2173767;5015961;5037552 ALS2CR8__4290;D15S1477;D8S2279;G31883;G54493;G59244;G63182 ALS2CR8;CARF;DKFZp667N246;FLJ12675;FLJ21579;NYD-SP24 OTTHUMP00000205931;OTTHUMP00000205969;OTTHUMP00000205971;OTTHUMP00000205972;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein;calcium-response factor;calcium-responsive transcription factor;testis development protein NYD-SP24 APPROVED protein-coding ENSG00000138380 14435 10464 607586 VALIDATED 1601864 CARKD carbohydrate kinase domain containing 13 13 13 q34 92114056 92138392 + 110066009 110090344 + 111267807 111292343 + 6480464 16344560;14702039;12477932;11042152;8125298;20379614;20877624;21906983 55739 B4DQR1;B7Z3Q0;Q8IW45 ABBA01026993;AF091088;AF151071;AK001631;AK024260;AK057767;AK058043;AK091867;AK093771;AK225129;AK296227;AK296758;AK298917;AK302117;AL139385;AMYH01005378;BC005150;BC006416;BC041028;BQ955656;CH471085;DA175011;DA435066;DA815628;NM_001242881;NM_001242882;NM_001242883;NM_018210;NR_040103;NR_040104 AAC72957;AAF36157;AAH41028;BAA91797;BAB14863;BAG52761;BAG59339;BAG61023;BAG63496;BAH12286;EAX09114;EAX09115;EAX09116;EAX09117;EAX09118;EAX09119;EAX09120;EAX09121;EAX09122;EAX09123;EAX09124;EAX09125;NP_001229810;NP_001229811;NP_001229812;NP_060680;Q8IW45 Hs.408324 1737515;1768632;1847986;1848257 Cda0ch07;D13S1047;D13S1152;SHGC-37618 FLJ10769;FLJ34548;FLJ52550;LP3298 ATP-dependent (S)-NAD(P)H-hydrate dehydratase;ATP-dependent NAD(P)HX dehydratase;OTTHUMP00000018702;carbohydrate kinase domain-containing protein protein-coding ENSG00000213995 25576 07698 VALIDATED 2301770 CARNS1 carnosine synthase 1 CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010] 11 11 11 q13.2 64516258 64526190 + 66939725 66949654 + 67183149 67193078 + 6907045 12477932;10718198;12421765;20097752 57571 A5YM72;B4DFC6;E9PK38;F5H427 AB037815;ABBA01024034;AK289938;AK294035;AK295331;AMYH01003747;AP003419;BC036557;CH471076;EF560746;NM_001166222;NM_020811 A5YM72;AAH36557;ABQ59056;BAA92632;BAF82627;BAG57387;BAG58305;EAW74617;NP_001159694;NP_065862 Hs.502982 1852157;2183221;5014053 D1S3693;RH41924;RH78502 ATPGD1;KIAA1394 ATP-grasp domain containing 1;ATP-grasp domain-containing protein 1;OTTHUMP00000236403;OTTHUMP00000236404;carnosine synthase 1 APPROVED protein-coding ENSG00000172508 29268 613368 VALIDATED 1322554 CASC1 cancer susceptibility candidate 1 12 12 12 p12.1 30408204 30495049 - 25152490 25239361 - 25261223 25348094 - 737633;6480464 12477932 18299280;16410263;14702039;14583591;8889548;20734064;20639392;16344560;22990118 55259 F5H555;F8W8F9;G3V2J3;G3V333;G3V3G6;H0YJM7;Q6TDU7 ABBA01068015;ABBA01068016;ABBA01068017;AC023510;AC092794;AK001783;AK093102;AK297998;AK301763;AK302235;AK304602;AMYH01004339;AY423543;BC028415;BC031047;BC047415;BC057795;BC117281;BC117283;BM979714;CH471094;DA753279;NM_001082972;NM_001082973;NM_001204101;NM_001204102;NM_018272 AAH28415;AAH47415;AAH57795;AAI17282;AAI17284;AAQ93499;BAA91908;BAG52654;BAG60304;BAG63223;BAG63589;BAG65388;EAW96507;EAW96508;EAW96509;NP_001076441;NP_001076442;NP_001191030;NP_001191031;NP_060742;Q6TDU7 Hs.407771 1689091;1705476;1754055;2107281;2109109;2118361;2129902;2144912;2154617 CASC1_9888;D12S1350E;LRMP_7815;RH17991;RH45039;RH92803;SHGC-132095;SHGC-83826;STS-AA005176 FLJ10921;LAS1;PPP1R54 OTTHUMP00000196569;OTTHUMP00000196570;OTTHUMP00000196571;OTTHUMP00000196572;OTTHUMP00000245368;OTTHUMP00000245369;cancer susceptibility candidate protein 1;lung adenoma susceptibility 1-like protein;protein phosphatase 1, regulatory subunit 54 protein-coding ENSG00000118307 29599 16684 VALIDATED 733909 CARHSP1 calcium regulated heat stable protein 1, 24kDa 16 16 16 p13.2 9113576 9129635 - 8854303 8870364 - 8946802 8962863 - 1299427;6480464 9712905 12107410;12801884;17081983;16964243;16083285;15489334;15302935;14702039;12477932;11842224;15910284;16169070;21078874;21177848;22939629;21900206;21990353;16344560;8889548;21139048;21890473 23589 H3BNU9;H3BPY5;H3BQY0;H3BSW7;H3BTK3;H3BUY4;I3L3X8;Q9Y2V2 ABBA01019732;AC022167;AF115345;AK093698;AK311777;AMYH01007139;AMYH01007140;BC000782;BC001333;BC003366;BC108283;BM693675;BM920489;BQ004670;CA396216;CH471112;DA736976;DB101255;DB446945;HY005510;HY090855;NM_001042476;NM_001278260;NM_001278261;NM_001278262;NM_001278263;NM_001278264;NM_001278265;NM_001278266;NM_014316 AAD25021;AAH03366;AAI08284;ACE86631;ACE87313;BAG34720;EAW85196;EAW85197;EAW85198;EAW85199;NP_001035941;NP_001265189;NP_001265190;NP_001265191;NP_001265192;NP_001265193;NP_001265194;NP_001265195;NP_055131;Q9Y2V2 Hs.632184 1767254;1849818;2109107;2163501;5014051;5014740;5021872;5022578;5022651;5118444 A005C19;CARHSP1_9377;D11S2921;D11S3316;D17S610;D1S1423;D8S2278;RH70769;STS-W72753;sY3084 CRHSP-24;CSDC1;MGC111446 OTTHUMP00000160107;calcium regulated heat stable protein 1;calcium-regulated heat stable protein 1;calcium-regulated heat-stable protein (24kD);calcium-regulated heat-stable protein of 24 kDa protein-coding ENSG00000153048 17150 08515 VALIDATED 1314176 CARM1 coactivator-associated arginine methyltransferase 1 Protein arginine N-methyltransferases, such as CARM1, catalyze the transfer of a methyl group from S-adenosyl-L-methionine to the side chain nitrogens of arginine residues within proteins to form methylated arginine derivatives and S-adenosyl-L-homocysteine. Protein arginine methylation has been implicated in signal transduction, metabolism of nascent pre-RNA, and transcriptional activation (Frankel et al., 2002 [PubMed 11724789]).[supplied by OMIM, Mar 2008] 19 19 p13.2 10843253 10894448 + 10982253 11033448 + 1359044;2293206;2326123;5128512;6480464;7242552 15866169;15221992;17163421;16394250;21074527 14966289;16344550;17124247;19725955;20360387;17898714;19183483;18950845;18660489;18172323;17882262;17640894;17218272;17043108;17005681;16923966;16705743;16497732;16330542;16254053;15944154;15731352;15616592;15489334;15471871;15096520;14500758;12498683;12477932;12374746;12237300;11850402;11751582;11724789;10381882;9110174;8619474;11050077;15186775;15383283;21145461;21282336;20213728;20462455;19188441;17053781;20932315;11701890;11747826;11983685;11997499;18280497;18413343;18511550;14729568;17403666;17882261;19405910;19660582;20111005;20811636;21478268;22863883;21030982;21139048;21242974;21445011;21890473;21903422;21906983;19322201;21628590;22046437;22179613;22451921;19101556;20085233;21963094;21988832;23000965;23265702;23349634;23505388;22053931;22190034;22505724 10498 K7EIQ8;K7EK20;K7EPK1;K7EQA8;K7EQB9;K7ERM3;Q86X55 ABBA01029885;ABBA01029886;ABBA01029887;ABBA01029888;AC007565;AC011442;AF055027;AL833242;AMYH01009480;BC036886;BC046240;BC070496;BU176535;CH471106;NM_199141 AAH46240;AAI56436;AAI72490;EAW84155;EAW84156;NP_954592;Q86X55 Hs.323213 1657748 STS-AA004344 PRMT4 histone-arginine methyltransferase CARM1;protein arginine N-methyltransferase 4 APPROVED protein-coding ENSG00000142453 23393 09158 603934 VALIDATED 1348766 CASC10 cancer susceptibility candidate 10 10 10 10 p12.31 21471245 21474037 - 21823427 21826197 - 21783421 21786213 - 6480464 16344560;15164054;12477932;19322201;21804547;23535730 399726 Q5T4H9 ABBA01034498;AL358780;AMYH01002172;BC040880;BC130594;BC132974;CH471072;DA401077;NM_001010911 AAI30595;AAI32975;EAW86170;NP_001010911;Q5T4H9 Hs.315568 bA418C1.3 OTTHUMP00000019273;putative uncharacterized protein C10orf114 APPROVED protein-coding 31448 16574 VALIDATED 7245365 CASC16 cancer susceptibility candidate 16 (non-protein coding) 16 q12.1 52585999 52640887 - 12477932;17529967;17529974;19304784;19330030;19398914;20054709;20213080;20332101;20406955;20453838;20585626;20872241;21263130;21779176;23001122 643714 ABBA01066476;AC026462;AMYH01007673;AX971948;BC029912;BC034767;CH471092;DB462404;DB523777;NR_033920 CAF17056;EAW82788 Hs.662199 1701084;1719301;1769438;1787652;1856088;2117680 D16S2950;RH104169;RH123373;SHGC-156094;SHGC-60775;SHGC-60806 APPROVED miscrna ENSG00000249231 48608 VALIDATED 5488961 CASC4P1 cancer susceptibility candidate 4 pseudogene 1 13 20131972 20139336 - 100420689 ABBA01068556;AL359457;AMYH01004939;NG_024833 pseudo 39251 INFERRED 1321833 CARS cysteinyl-tRNA synthetase This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010] 11 11 p15.5 2978735 3035247 - 3022152 3078681 - 1580863;6480464 17303165;10908348;7987009;16344560;15592455;15489334;14702039;12477932;12112524;11347887;8468064;8125298;20834067;18029348;19041431;19252134;20201924;20306291;20460425;19394292;22863883;21832049;21139048;21906983;21963094 833 A8MVQ3;B4DKY1;B4DPV7;C9JLN0;E9PLP0;E9PPK8;E9PRS8;P49589 AB208814;ABBA01032074;AC108448;AC131971;AF288206;AF288207;AI432096;AI608729;AK096313;AK125503;AK126135;AK131221;AK222614;AK289432;AK295371;AK296763;AK298514;AK302644;AK308005;AMYH01003326;AMYH01003327;AU133264;BC002880;BT009913;BX647906;CH471158;DC376478;L06845;NM_001014437;NM_001194997;NM_001751;NM_139273;NR_036542 AAA73901;AAG00578;AAG00579;AAH02880;AAP88915;ABM81699;BAD92051;BAD96334;BAF82121;BAG53256;BAG58331;BAG59343;BAG60719;BAG63885;CAI46108;EAX02536;EAX02537;EAX02538;EAX02539;EAX02540;EAX02541;NP_001014437;NP_001181926;NP_001742;NP_644802;P49589 Hs.274873 1720901;1737825;2132956;2166752;5024756;5113398 A006N36;D11S3440;G59279;RH27287;RH48478;RH80030 CARS1;CYSRS;MGC:11246 OTTHUMP00000012604;OTTHUMP00000012605;OTTHUMP00000012668;cysteine tRNA ligase 1, cytoplasmic;cysteine translase;cysteine--tRNA ligase;cysteine--tRNA ligase, cytoplasmic;cysteine-tRNA ligase;cysteinyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000110619 1493 00464 123859 REVIEWED 1606504 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial (putative) 13 13 13 q34 92139805 92204660 - 110091760 110156464 - 111293757 111358480 - 6480464 16344560;15779907;15489334;15057823;14702039;12477932;20379614;20877624 79587 B7Z7E6;F5H579;F5H623;H0YFF0;H0YFV1;H0YGF2;Q9HA77 AB062436;ABBA01026991;ABBA01026992;ABBA01026993;AK022180;AK091992;AK092947;AK124505;AK301907;AL139385;AL157820;AMYH01005378;BC007220;BE464542;BX648882;BX649191;CH471085;DA966145;NM_024537 AAH07220;BAB13978;BAB93499;BAH13582;CAE46210;CAH10378;EAX09126;NP_078813;Q9HA77 Hs.508725 1718801;1725533;1738421;1739625;2121522 D13S1213E;D13S675E;RH119165;RH123104;RH45363 DKFZp667A2315;DKFZp686G08243;FLJ12118;FLJ42514 OTTHUMP00000018707;cysRS;cysteine tRNA ligase 2, mitochondrial (putative);cysteine--tRNA ligase;probable cysteine--tRNA ligase, mitochondrial;probable cysteinyl-tRNA synthetase, mitochondrial protein-coding ENSG00000134905 25695 07763 612800 VALIDATED 7247384 CASC8 cancer susceptibility candidate 8 (non-protein coding) 16682969;17401363;17401366;18372901;19767754 727677 ABBA01037942;ABBA01037943;AC016883;AMYH01019014;DQ515896;DQ515897;DQ515898;DQ515899;NR_024393 Hs.673248;Hs.736625 LINC00860 miscrna ENSG00000246228 45129 VALIDATED 1605714 CARTPT CART prepropeptide This gene encodes a secreted protein which is processed by prohormone/proprotein convertases to produce smaller, biologically active peptides. Expression of the transcript for this gene is regulated by certain drugs such as cocaine, and the encoded protein is thought to be involved in the regulation of appetite and stress. Mutations in this gene are associated with susceptibility to obesity.[provided by RefSeq, Nov 2009] 5 5 q13.2 71050750 71052628 + 71014990 71016875 + 1625192;2313632;2313633;2313634;6480464 11522684;16443761;10805512;10574510 10235641;15908120;11711504;15680948;11478874;16614075;8647455;19356602;19110485;19086053;19077438;19058789;18572320;17631364;17525122;17105939;17008116;16309793;16210370;16146347;16102267;15823203;15597110;15489334;15340161;15326462;15234472;12654232;12477932;12147208;11857741;11791158;10905499;9590691;22257587;22139072;19913121;20628086;16784796;19874574;19876004;20151954;20186155;20362026;20468064;8889548;23086924;22332848;21605873;22235287;21832817;21921635;21803054;22553341;21982860;22436349;23034261 9607 Q16568 ABBA01061898;AC143336;AI417979;AMYH01015401;BC029882;CH471084;CK300473;CR542216;NG_015988;NM_004291;U16826;U20325 AAB08010;AAB08011;AAH29882;ACE86636;ACE87318;CAG47012;EAW95694;NP_004282;Q16568 Hs.1707 1655832;1655834;2113792;2166151;2218336 CART;CART_3224;D5S2377;STS-U16826;WI-19012 CART OTTHUMP00000161935;cocaine and amphetamine regulated transcript;cocaine- and amphetamine-regulated transcript protein APPROVED protein-coding ENSG00000164326 24323 04006 602606 REVIEWED 1349507 CASC2 cancer susceptibility candidate 2 (non-protein coding) 10 10 10 q26.11 113536133 113700235 + 119795800 119848012 + 119806332 119969665 + 15024726;14702039;12477932 255082 Q6XLA1;Q8IU53 ABBA01062935;ABBA01062936;AC005879;AC022395;AI219353;AJ344228;AJ535620;AJ535621;AJ535622;AK055184;AMYH01003104;AMYH01003105;AMYH01003106;AY226450;AY226451;BC036393;BC112306;BC112308;BC112326;CH471066;NR_026939;NR_026940;NR_026941 AAP48615;CAC83044;CAD59605;CAD59606;CAD59607;EAW49419;EAW49420;EAW49421;EAW49422;Q6XLA1;Q8IU53 Hs.89387 1334689;1338553;1654197;1678005;1683553;1722489;1723329;1766733;1770153;1779258;1781232;1846943;2110305;2142524;2179294 CASC2__4511;D10S1236;D10S190;G60168;RH118480;RH44845;RH45265;RH91959;RH93245;SHGC-152014;SHGC-153065;SHGC-35089;U64663;U75536;stSG68076 C10orf5;MGC117219 APPROVED miscrna ENSG00000177640 22933 12266 608598 VALIDATED 7247327 CASC9 cancer susceptibility candidate 9 (non-protein coding) q21.11 12477932;15146197 101805492 AI205540;BC062758;BE866214;CN273839;CN418510;CX870402;NR_103848;NR_103849;NR_103850 Hs.571424 LINC00981 miscrna 48906 VALIDATED 6481396 CASK-AS1 CASK antisense RNA 1 100873928 AL445239 APPROVED miscrna 40126 7247421 CASC7 cancer susceptibility candidate 7 (non-protein coding) 12477932;14702039 286109 AK092172;BC033700 Hs.660189;Hs.743313 LINC00980 long intergenic non-protein coding RNA 980 protein-coding 48905 1603284 CASC4 cancer susceptibility candidate 4 The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010] 15 15 15 q15.3 21470694 21597720 + 42368221 42495247 + 44580909 44707959 + 6480464 14702039;12975309;12845212;12764679;12477932;10497265;16344560;17207965;21832049;15604093;19322201 113201 H0YKJ7;H0YM51;H0YMR0;H0YN36;Q6P4E1 ABBA01039208;ABBA01039209;ABBA01039210;ABBA01039211;ABBA01039212;ABBA01039213;ABBA01039214;AC025043;AC090519;AF103804;AK022565;AK095068;AK098265;AK291026;AK298564;AL832333;AL832840;AMYH01006610;AY358086;BC012124;BC041786;BC063480;BG327802;BI467176;CH471082;DB229269;NM_138423;NM_177974 AAH12124;AAH63480;AAQ88453;ADQ32536;BAC05272;BAF83715;BAG60758;EAW77257;EAW77258;EAW77259;EAW77260;EAW77261;EAW77262;EAW77263;EAW77264;NP_612432;NP_816929;Q6P4E1 Hs.512867 1650321;1682093;2119421;2156903;5014051;5020948;5024761;5037552;5109396;5127223 D15S628E;D8S2278;D8S2279;G17838;G35510;RH27235;RH36905;RH47707;SHGC-58376;STS-AA016055 DKFZp459F1927;H63;MGC74708 OTTHUMP00000161778;OTTHUMP00000161779;cancer susceptibility candidate gene 4 protein;gene associated with HER-2/neu overexpression;protein CASC4 APPROVED protein-coding ENSG00000166734 24892 11018 REVIEWED 1603612 CASD1 CAS1 domain containing 1 7 7 7 q21.3 88837411 88884573 + 93977120 94024216 + 94139170 94186331 + 6480464 14702039;12477932;11703667;11528394;20947662;19322201 64921 C9JDR3;F8WDQ7;F8WDW8;Q8WZ77;Q96PB1 AACC02000014;AB073397;ABBA01045782;AC002528;AC096662;AF355594;AF397424;AK024866;AK025532;AK123866;AK123895;AK314329;AMYH01017696;BC029543;BC050313;BC063284;CH236949;CH471091;NM_022900 AAB69978;AAH63284;AAK97479;AAL33538;BAB15028;BAB15163;BAE45726;BAG36976;BAG53975;EAL24136;EAW76789;EAW76790;EAW76791;EAW76792;EAW76793;NP_075051;Q96PB1 Hs.260041 1649659;2172634;5094402;7186332 D7S1434;G54776;STS-R16109 C7orf12;FLJ21213;FLJ21879;FLJ41901;NBLA04196 CAS1 domain-containing protein 1;O-acetyltransferase;OTTHUMP00000163031;WUGSC:H_GS542D18.2 protein-coding ENSG00000127995 16014 13004 611686 VALIDATED 1344893 CASKP1 calcium/calmodulin-dependent serine protein kinase (MAGUK family) pseudogene 1 Y Y Y q11 2035221 2053549 - 13551059 13569586 - 15041766 15060093 - 12815422 10029 ABBA01065592;ABBA01065593;AC004474;NG_002805 1746047 G49204 CASKP APPROVED pseudo 1498 INFERRED 1353876 CASC3 cancer susceptibility candidate 3 The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008] 17 17 q21.1 35550033 35581957 + 38296507 38328431 + 1580863;6480464;6907045 12080473;18332872;17652158;17081983;16931718;16495234;16344560;16314458;16170325;15489334;15166247;14973490;14702039;12843282;12477932;11980659;7490069;15680326;21145461;18029348;16923391;16601204;23084401;21327427;21988832;22094256;23530232;21139048;21906983;19322201;22318606;22190034;19410547 22794 J3KSY7;J3QSC4;K7EQ38;O15234 ABBA01031840;ABBA01031841;ABBA01031842;AC068669;AK096126;AK292425;AK296682;AK310635;AMYH01008381;AMYH01008382;BC030008;BC044656;BC050526;CA427444;CH471152;DB082647;NM_007359;X80199 AAH44656;AAH50526;BAF85114;BAG59278;CAC27699;EAW60643;EAW60644;NP_031385;O15234 Hs.743287 1734450;1734474;1770838;1770840;2114988 A002D45;D17S1417E;D17S1436E;G19968;SGC31792 BTZ;MLN51 MLN 51;OTTHUMP00000164448;barentsz;cancer susceptibility candidate gene 3 protein;metastatic lymph node 51;metastatic lymph node gene 51 protein;protein CASC3;protein barentsz APPROVED protein-coding ENSG00000108349 17040 16225 606504 REVIEWED 1603976 CASC5 cancer susceptibility candidate 5 The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013] 15 15 q14 38673739 38742173 + 40886447 40954881 + 6480464;7240710 15502821;15579588;10980622;18771174;18045986;17981135;17081983;16565220;12618768;12618766;12477932;12087463;10997877;10780384;8700511;15371340;16622420;22660415;15231748;20231380;21199919;21272090;19141287;22983954;18029348;19389623;19471022;20231385;15824131;21963094;20360068;22000412;22193957;21139048;21693764;21906983;20301772;23667531;20220147;22505724 57082 E9PPJ1;H0YCZ2;H0YEY7;H0YN41;Q8NG31 AB022190;AB046790;ABBA01038440;ABBA01038441;ABBA01038442;AC022405;AF173994;AF248041;AF461041;AK307605;AK307996;AMYH01006563;BC014306;BC029373;BC043597;BQ776141;CH471125;NG_033114;NM_144508;NM_170589;U52052 AAF97513;AAH29373;AAI72422;AAL67803;AAM45143;BAB13396;BAC05691;EAW92429;EAW92430;NP_653091;NP_733468;Q8NG31 Hs.181855 1335756;1654801;1670284;1688636;1712761;1718487;2111264;2152406 D15S506;D20S867;RH120094;RH122445;RH93617;SGC44363;SHGC-44363;STS-T81591 AF15Q14;CT29;D40;KIAA1570;KNL1;MCPH4;PPP1R55;Spc7;hKNL-1;hSpc105 ALL1-fused gene from chromosome 15q14 protein;OTTHUMP00000233260;OTTHUMP00000233262;OTTHUMP00000233428;blinkin, bub-linking kinetochore protein;bub-linking kinetochore protein;cancer susceptibility candidate gene 5 protein;cancer/testis antigen 29;kinetochore null 1 homolog;kinetochore-null protein 1;protein CASC5;protein phosphatase 1, regulatory subunit 55 protein-coding ENSG00000137812 24054 10634 604321;609173 REVIEWED 1342676 CASP13 caspase 13, apoptosis-related cysteine protease 9624166 338022 AF078533 1501 1348077 CASP12 caspase 12 (gene/pseudogene) Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. Several alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Feb 2011] 11 11 q22.3 104262627 104274607 - 104756445 104769397 - 2311450;2311451;2311485;1299333;2311466;2311453;2311461;2311467;2311449;2311454;2311455;2311458;2311470;6480464 19215662;15855338;14675152;12598725;16847061;18787714;18273070;16574987;19301230;18675883;18603371;19406177;16092975 19447924;18791174;18332441;17574210;16917906;16532395;15129283;15033764;14532116;12975309;12054529;9038361;11278723;11943137;20577092;19721713;20031604;20041182;20299359;20299368;20423816;11329013;20646990;21872999;18329614;18710920;21706251 100506742 D6RAQ6;D6RBW4;D6RC33;D6RG27;D6RIR9;D6RJG1;Q6UXS9 ABBA01039913;ABBA01039914;AF464191;AF464192;AF464193;AF464194;AF464195;AF486844;AF486845;AF486846;AF486847;AMYH01004001;AMYH01004002;AP002004;AY358222;BG183061;NG_028201;NM_001191016;NR_034061;NR_034063;NR_034064;NR_034065;NR_034066;NR_034067;NR_034068;NR_034070;NR_034071 AAQ88589;NP_001177945;Q6UXS9 Hs.476989 CASP-12;CASP12P1 OTTHUMP00000207026;OTTHUMP00000207028;OTTHUMP00000207029;OTTHUMP00000207030;OTTHUMP00000207031;OTTHUMP00000207032;OTTHUMP00000212525;OTTHUMP00000219058;caspase 12;caspase 12 pseudogene 1;inactive caspase-12 APPROVED protein-coding ENSG00000204403 19004 608633 REVIEWED 733678 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, mental retardation and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] X X p11.4 41264287 41667212 - 41374187 41782287 - 734690;1580863;6480464;6484113;7240710 9722958 11120739;9660868;19200522;19165920;19125693;18664494;18629876;18423203;17287346;16842202;16637659;15694377;15673434;15331416;15066269;15024025;14960569;14702039;14627983;12641734;12522552;12511555;12477932;12351654;12202822;12151522;12151521;12110687;12093160;12040031;12006486;11880184;11742811;11679592;11377421;11356864;11036064;11003712;10993877;10856295;10749215;10460248;9952408;9822620;9753324;9660869;9546224;9225980;8786425;19019082;12676536;15729360;10455105;16688213;19615732;19736351;19781660;19847910;20006588;20623620;20029458;21855798;15123239;23165780;21763699;15231748;19523119;21988832;21735175;21954287;21890473;21906983;21139048;19322201;21590270;22389404;22452838;22709267 8573 F8W998;H9KV37;Q5JS72;Q5JS74;Q5JS79;Q5VT18 AB039327;AB208859;ABBA01046606;ABBA01046607;ABBA01046608;ABBA01046609;ABBA01046610;ABBA01046611;ABBA01046612;ABBA01046613;ABBA01046614;ABBA01046615;ABBA01046616;ABBA01046617;ABBA01046618;ABBA01046619;ABBA01046620;ABBA01046621;ABBA01046622;ABBA01046623;ABBA01046624;ABBA01046625;ABBA01046626;ABBA01046627;ABBA01046628;ABBA01046629;ABBA01046630;ABBA01046631;ABBA01046632;ABBA01046633;ABBA01046634;ABBA01046635;ABBA01046636;ABBA01046637;ABBA01046638;ABBA01046639;ABBA01046640;ABBA01046641;ABBA01046642;ABBA01046643;ABBA01046644;ABBA01046645;ABBA01046646;ABBA01046647;ABBA01046648;ABBA01046649;ABBA01046650;ABBA01046651;ABBA01046652;ABBA01046653;ABBA01046654;ABBA01046655;ABBA01046656;ABBA01046657;AF032119;AF035582;AF262404;AF262405;AK025872;AK056476;AK313399;AL158144;AL353691;AL445239;AL603754;AL627402;AMYH01022234;AMYH01022235;AY705392;BC029936;BC035990;BC117311;BC143454;BC143456;CH471141;DN993605;NG_016754;NM_001126054;NM_001126055;NM_003688 AAB88125;AAB88198;AAF72666;AAF72667;AAI17312;AAI43455;AAI43457;AAU10527;ADR83272;BAB12252;BAD92096;EAW59390;EAW59391;EAW59392;EAW59393;NP_001119526;NP_001119527;NP_003679;O14936 Hs.495984 1336894;1659736;1667537;1671790;1677128;1688354;1701874;1702962;1711828;1732415;1787294;1791075;1797626;1797658;1848730;1855503;2106969;2159637;2177132 CASK__4512;DXS1387;DXS1392;DXS1694;DXS8113;G49441;GPR34_2219;GPR82_2567;L77315;RH17463;RH27222;RH68671;RH69317;RH78452;RH98899;SHGC-146100;SHGC-35026;SHGC-35951;UniSTS:256961 CAGH39;CAMGUK;CMG;FGS4;FLJ22219;FLJ31914;LIN2;MICPCH;MRXSNA;TNRC8 OTTHUMP00000023157;OTTHUMP00000023159;OTTHUMP00000023160;OTTHUMP00000023161;OTTHUMP00000023162;OTTHUMP00000226872;calcium/calmodulin-dependent serine protein kinase;calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase;hCASK;peripheral plasma membrane protein CASK;protein lin-2 homolog;trinucleotide repeat containing 8 APPROVED protein-coding ENSG00000147044 1497 02164 300172;300422;300749 REVIEWED 6480923 CASP1P1 caspase 1, apoptosis-related cysteine peptidase pseudogene 1 11 104993948 104994070 - 100874457 ABBA01039912;AMYH01004003;AP001153;NG_032566 pseudo 43775 INFERRED 5688830 CASP1P2 caspase 1, apoptosis-related cysteine peptidase pseudogene 2 11 q22.3 104934074 104941595 - 19773279 440067 ABBA01039912;AMYH01004002;AP001153 pseudo 43776 MODEL 1351061 CASKIN1 CASK interacting protein 1 16 16 16 p13.3 2441604 2476669 - 2167185 2186466 - 2227184 2246465 - 632380;1580863;6480464 12040031 12477932;10718198;14968112;15032605;21763699;22153505;20881960 57524 Q8WXD9 AB037727;ABBA01030269;ABBA01030270;ABBA01030271;AC009065;AF451977;AMYH01007053;AMYH01007054;BC042011;CH471112;NM_020764 AAH42011;AAL49758;BAA92544;EAW85543;EAW85544;EAW85545;NP_065815;Q8WXD9 Hs.643537 1662992;1664128;1683166;1688514;1722265;1736574;1745955;1778320;2142045;2146291 AI481330;Bdac6f06;D16S2568E;G60043;RH79588;RH98228;SHGC-61344;STS-W72364;STS-W86181;WIAF-1628 ANKS5A CASK-interacting protein 1;caskin-1 protein-coding ENSG00000167971 20879 10809 612184 VALIDATED 5688833 CASP1P3 caspase 1, apoptosis-related cysteine peptidase pseudogene 3 11 104966165 104968316 - 100422634 ABBA01039912;AMYH01004003;AP001153;NG_024409 1652545 STS-N29857 pseudo 43777 INFERRED 5683667 CASP3P1 caspase 3, apoptosis-related cysteine peptidase pseudogene 1 1 p31.1 71126337 71126944 - 100131616 ABBA01074476;AL592104;AMYH01000700;NG_022722 pseudo 43596 INFERRED 1320238 CASKIN2 CASK interacting protein 2 This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 17 17 17 q25.1 70090213 70105647 - 71007937 71023222 - 73496342 73511627 - 632380;1580863;6480464 12040031 19531213;17081983;16344560;16094384;15592455;15489334;12477932;10574461;21139048;21805519 57513 J3QKS3;J3QRN1;Q8WXE0 AB032965;ABBA01028787;ABBA01028788;AC100787;AF451976;AK025262;AK300354;AK315936;AMYH01008635;BC032359;BC066643;BM994645;CH471099;DA105579;DA336467;DA538297;DC318119;NG_033152;NM_001142643;NM_020753 AAH66643;AAL49757;BAA86453;BAG62095;BAH14307;EAW89278;NP_001136115;NP_065804;Q8WXE0 Hs.274408 1686118;1758471;2153425 RH25408;RH71445;SHGC-148423 ANKS5B;FLJ21609;KIAA1139 CASK-interacting protein 2;caskin-2 protein-coding ENSG00000177303 18200 09872 612185 REVIEWED 1347736 CASP10 caspase 10, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011] 2 2 q33-q34 201755866 201802355 + 202047621 202094129 + 1580863;2314187;6480464;6484113;6907045;7240710 17082813 8755496;10412980;11717445;11048727;19423537;19414860;19269008;19219602;19141860;19074885;18823309;18716417;18676680;18563783;18381704;17999750;17822854;17623017;17534194;17450141;17085968;17071630;16767158;16446975;16251207;16186808;15772077;15767684;15735701;15500642;15452117;15069192;14761933;14759258;14688482;14687710;12887920;12527898;12477932;12388546;12198154;12037669;12010812;11973654;11583996;11395500;11161814;11098060;10734073;10716992;10432301;10187817;9792675;9337844;9325248;9289491;9228018;9208847;9153302;9045686;8962078;8521391;8125298;3031469;1171445;170210;11002417;15659383;11832478;12884866;15280356;17159907;17479112;19166881;19170196;19380486;19550122;19604093;19625176;19641626;19692168;19773279;19784808;19826114;19861680;19900088;19902255;20025484;20402676;20453000;20800603;20802294;20855536;20959405;20978178;21048031;20644561;20661084;20829884;16344560;21454616;21368896;22782902;21139048;21559821;20301287;21911414;22683265;22864571;23212337;22843554;20467438;21988832 843 B4E3T5;Q68HC0;Q92851 AB038979;ABBA01062536;AC007283;AF111344;AF111345;AI696103;AJ487678;AJ487679;AK225475;AK304859;AK310746;AMYH01011403;AY690601;BC042844;BX089180;CH471063;DA456072;EF050529;NG_007265;NM_001206524;NM_001206542;NM_001230;NM_032974;NM_032976;NM_032977;U60519;U86214 AAB46730;AAC50644;AAD28402;AAD28403;AAH42844;AAU00989;AAY24291;ABJ53426;ADZ15622;BAB32553;BAB32554;BAG65597;CAD32371;CAD32372;EAW70247;EAW70248;EAW70249;EAW70250;EAW70251;NP_001193453;NP_001193471;NP_001221;NP_116756;NP_116758;NP_116759;Q92851 Hs.5353 1730123;1793552;1795470;2127874;2150571;2179208 CASP10_482;D2S188E;PMC230316P3;RH68751;RH70685;RH77986 ALPS2;FLICE2;MCH4 CASP-10;FADD-like ICE2;FAS-associated death domain protein interleukin-1B-converting enzyme 2;ICE-like apoptotic protease 4;OTTHUMP00000163712;OTTHUMP00000163713;OTTHUMP00000163714;OTTHUMP00000206550;OTTHUMP00000206551;apoptotic protease MCH-4;caspase 10, apoptosis-related cysteine protease;caspase-10;interleukin-1B-converting enzyme 2 APPROVED protein-coding ENSG00000003400 1500 03458 137215;601762;603909;605027;613659 REVIEWED 735988 CASP1 caspase 1, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012] 11 11 q23 104401445 104411067 - 104896235 104905884 - 1580863;1300048;2293624;2315884;2298754;2315887;2315889;2315890;2315892;2315913;2315919;2315886;2315888;2315917;2315883;5130192;4889574;5130181;5130182;5130189;5130187;5490211;5490210;6480464;6484113;6907045 16557226;11221855;17375183;19853379;18367607;17845807;17384935;17303764;16886979;10557324;18398369;17188500;16333955;12396474;19265174;19362023;17278232;15196254;20974310;20303873;19302047 16903774;16817903;16785446;16778130;16621994;16428475;16405550;16260731;16123779;16087165;16037825;15809717;15561713;15498465;15489334;15471361;15383541;15326478;15296730;15039421;15030775;14669344;14584052;12692130;12628757;12477932;12459463;12387869;12215842;12191486;12170183;12096920;12019269;11997061;11967258;11953316;11821383;11536016;11472070;11438643;11437653;11432859;11390368;11226410;11085743;10708425;10660263;10510468;10438581;10329646;10069390;9990034;9987822;9894612;9875225;9830039;9804161;9792675;9727491;9705938;9705209;9632733;9593687;9535906;9435230;9334338;9334240;9250871;9219695;9190289;9115219;9070648;8999548;8978814;8861900;8125298;8044845;12459189;10799503;10353249;12888622;15107016;16575408;12761501;1373520;18029348;19439663;19414860;19382257;19269008;19258923;19141860;19117953;19074885;18981155;18828051;18799371;18590738;18577712;18550243;18523309;18329368;18304957;18263805;18263705;18209072;17959595;17703412;17623017;17597823;17477815;17418785;17360653;17196042;17173859;17036048;16920334;7876192;7797510;7721861;7642516;1919001;1574116;1321594;15749123;9548463;9002959;8962078;8035875;8034320;10477277;19158676;19573080;19648107;19737897;19773279;19779610;19833722;20038581;20048342;20170165;20184726;20197547;20402676;20503287;19913121;20485444;20628086;16780720;17207965;20808838;20060974;20855536;20959405;21037509;21048031;21052690;21792841;19158679;19825518;19593445;22837397;23021143;21862623;21463955;19013323;19275586;20852925;21757759;21832064;22227487;21311905;21320026;21862576;22046355;11684016;22046441;11374873;22195745;22833538;23226468;23386603;16286016;23209292;23236067;22537218;22491736 834 A8K249;A8K257;B4DVD8;G3V169;H0YEC7;P29466;Q5FBZ0 AA505065;AA737419;AA761907;AB102878;ABBA01039912;AK223503;AK290114;AK290122;AK296646;AK301037;AK310059;AK313516;AMYH01004002;AP001153;AY660536;BC041689;BC062327;CH471065;M87507;NG_029124;NM_001223;NM_001257118;NM_001257119;NM_033292;NM_033293;NM_033294;NM_033295;U13697;U13698;U13699;U13700;X65019 AAA66942;AAC50107;AAC50108;AAC50109;AAC50110;AAH41689;AAH62327;AAT72297;ADQ32141;BAD89407;BAD97223;BAF82803;BAF82811;BAG36296;BAG59246;BAG62650;CAA46153;EAW67057;EAW67058;EAW67059;EAW67060;EAW67061;NP_001214;NP_001244047;NP_001244048;NP_150634;NP_150635;NP_150636;NP_150637;P29466 Hs.2490 1683557;1708054;1739603;2145768;5120157 D11S4052E;GDB:197846;IL1BCE;RH93671;SHGC-81423 ICE;IL1BC;P45 CASP-1;CASP1 nirs variant 1;IL-1 beta-converting enzyme;IL-1BC;IL1B-convertase;OTTHUMP00000045728;OTTHUMP00000232029;OTTHUMP00000232030;OTTHUMP00000232031;OTTHUMP00000232032;OTTHUMP00000232033;OTTHUMP00000232034;OTTHUMP00000232036;caspase 1;caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase);caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase);caspase-1;interleukin 1, beta, convertase;interleukin 1-B converting enzyme;interleukin 1-beta convertase;interleukin-1 beta convertase;interleukin-1 beta-converting enzyme APPROVED protein-coding ENSG00000137752 1499 00977 147678 REVIEWED 5688796 CASP16 caspase 16, apoptosis-related cysteine peptidase (putative) 16 p13.3 3194244 3199964 + 12477932;14702039;15489334;15616553;18281271;9847080 197350 P0CB46 ABBA01026728;AC108134;AF098666;AK096989;AMYH01007089;BC111724;XM_003403459;XM_003403679;XM_003960598 P0CB46;XP_003403507;XP_003403727;XP_003960647 Hs.434132 5015961 D15S1477 CASP14L caspase 16, apoptosis-related cysteine peptidase (putative);putative caspase-14-like protein;putative caspase-16 protein-coding ENSG00000228146 27290 MODEL 1323414 CASP14 caspase 14, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. [provided by RefSeq, Jul 2008] 19 19 p13.1 15024015 15027900 + 15160291 15169104 + 1580863;6480464 17558860;16341674;10203698;19414860;19269008;18762957;18424262;17436577;17359582;16854378;16168224;16061862;16061209;15619438;15489334;15331408;12477932;12445205;12200134;12181750;11175259;11121154;11062009;9823333;9792675;1286667;21145461;22548721;17207965;20533828;19573080;19615732;19747408;19773279;19960512;20237496;20402676;20562859;22876114;21567094;21800051;23349634;23362869;23750785;21930782;21539619;21139048;22354994;22825846 23581 B2CIS9;P31944 ABBA01051094;AC004699;AF097874;AK313992;AMYH01009542;BC069541;BC103868;BC103869;BM840054;CH471106;EU262664;EU502748;NM_012114 AAD16173;AAH69541;AAI03869;AAI03870;ABX83060;ACA63845;ADQ32904;BAG36704;EAW84459;NP_036246;P31944 Hs.466057 2111312 DXS6776 MGC119078;MGC119079 CASP-14;apoptosis-related cysteine protease;caspase 14, apoptosis-related cysteine protease;caspase-14 APPROVED protein-coding ENSG00000105141 1502 05788 605848 REVIEWED 1604850 CASP2 caspase 2, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Caspases mediate cellular apoptosis through the proteolytic cleavage of specific protein substrates. The encoded protein may function in stress-induced cell death pathways, cell cycle maintenance, and the suppression of tumorigenesis. Increased expression of this gene may play a role in neurodegenerative disorders including Alzheimer's disease, Huntington's disease and temporal lobe epilepsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 7 7 q34-q35 142695524 142714907 + 142985308 143004789 + 4107076;4107080;6480464 17627033;12067235 22396545;11076957;11156409;9044836;19453261;19414860;19347032;19269008;19074885;18840686;18418048;18413747;18375382;18238895;18166155;17945178;17637755;17195089;17159900;17079734;16843824;16822901;16777994;16652156;16387548;16227610;16193064;16172118;15843892;15817479;15735701;15590671;15555560;15511269;15500642;15489334;15297885;15262979;15173176;15073321;14716300;14702039;14701762;14647455;14623896;14584591;12920126;12853948;12837286;12598307;12584573;12477932;12477715;12193789;12145703;12107826;12065594;11350957;11313953;10791974;10329646;9847074;9792675;9695946;9560245;9261102;9228018;8985253;8962078;12011445;11972030;11832478;11823470;11425872;11399776;8780721;8087842;8044845;7789948;14713958;15882978;11278287;11830582;12787561;19573080;19604093;19715609;19730412;19738422;19773279;19935698;20208132;20402676;20453000;20158568;20187765;16360037;10079193;16344560;17902043;20978129;20143425;20819778;20855536;21051981;10980123;21332795;19593445;21726810;23553630;23568547;21903589;21828056;18309324;21900206;22002103;22531785;21415862;21906983;21940110;22825847;22077397;21475302;22174370;22201672;19322201;16701639;21988832;22486813;22505724;23042294 835 C9JRR9;D3DXD9;Q9BUP7 AACC02000107;AB209640;ABBA01034134;AC073342;AF314174;AF314175;AK096245;AK291274;AK303265;AK303391;AMYH01018007;AY219042;BC002427;BG397039;BM998653;BQ447606;BT007240;BX537669;CB988674;CH236959;CH471198;CR541748;DA505883;DB455837;DB455840;NG_029248;NM_001224;NM_032982;NM_032983;U13021;U13022 AAA58959;AAA58960;AAH02427;AAK00299;AAK00300;AAO25653;AAP22346;AAP22347;AAP22348;AAP22349;AAP35904;ABM84746;BAD92877;BAF83963;BAG64347;BAG64447;CAG46548;EAW51860;EAW51862;EAW51863;EAW51864;EAW51867;EAW51869;EAW51870;NP_001215;NP_116764;NP_116765;P42575 Hs.368982 1647746;1662076;1697432;1767210;2113714;2150790;2174901;5014051;5037552 A004G42;CASP2;D8S2278;D8S2279;NEDD2;RH102216;RH12751;WI-19013;WI-9353 CASP-2;ICH-1L;ICH-1L/1S;ICH-1S;ICH1;NEDD-2;NEDD2;PPP1R57 ICH-1 protease;NEDD-2;NEDD2 apoptosis regulatory;OTTHUMP00000025259;OTTHUMP00000202227;caspase-2;neural precursor cell expressed developmentally down-regulated protein 2;neural precursor cell expressed, developmentally down-regulated 2;protease ICH-1;protein phosphatase 1, regulatory subunit 57 APPROVED protein-coding ENSG00000106144 1503 02800 600639 REVIEWED 1351672 CASP5 caspase 5, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. Overexpression of the active form of this enzyme induces apoptosis in fibroblasts. Max, a central component of the Myc/Max/Mad transcription regulation network important for cell growth, differentiation, and apoptosis, is cleaved by this protein; this process requires Fas-mediated dephosphorylation of Max. The expression of this gene is regulated by interferon-gamma and lipopolysaccharide. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010] 11 11 q22.2-q22.3 104370180 104384909 - 104864967 104893895 - 1580863;5490211;6480464;6907045 20303873 17418785;7797592;19414860;19270026;19203830;19074885;18430458;17676485;16893518;16886895;15886296;12964016;12853457;12479849;12477932;12191486;11535131;11356849;10986288;10872455;9894612;9298992;9250871;8617266;19269008;19604093;19773279;20237496;20379614;20402676;20434535;19573080;20855536;20635389;21051981;21191419;19593445;21454616;21700414;22906436;21969293;21668377 838 A8MZ63;C9JF14;H7C0P5;Q1HBJ3 ABBA01039912;AK296660;AMYH01004002;AP001153;BC074994;BC113406;CH471065;DQ228672;DQ228673;DQ228674;DQ228675;DQ228676;DQ228677;DQ508420;DR005081;NM_001136109;NM_001136110;NM_001136112;NM_004347;NR_024239;NR_036562;U28015;W60703;X94993 AAA75172;AAH74994;AAI13407;ABB58698;ABB58699;ABB58700;ABB58701;ABB58702;ABB58703;ABF47103;BAG59257;CAA64450;EAW67054;EAW67055;EAW67056;NP_001129581;NP_001129582;NP_001129584;NP_004338;P51878 Hs.213327 2111804;5121203 D11S4491;RH71301 ICE(rel)III;ICEREL-III;ICH-3;MGC141966 CASP-5;ICE(rel)-III;OTTHUMP00000045729;OTTHUMP00000209889;OTTHUMP00000231914;OTTHUMP00000231915;TY protease;caspase 5, apoptosis-related cysteine protease;caspase-5;protease ICH-3;protease TY APPROVED protein-coding ENSG00000137757 1506 04048 602665 REVIEWED 731002 CASP3 caspase 3, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 6, 7 and 9, and the protein itself is processed by caspases 8, 9 and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A precursor protein, which is associated with neuronal death in Alzheimer's disease. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008] 4 4 q34 185785844 185807623 - 185548850 185570629 - 1300048;734693;734692;71121;2313963;2293092;2313998;2314002;2298948;2293304;2293322;2311448;2293309;2293311;2314187;2293308;2311466;2311451;2311440;2311467;2311446;2293314;2298949;2293330;2311432;2311441;2311436;2293093;2293315;2293306;2293307;2293316;2314390;2311430;2311442;2311444;2311447;2311455;2293324;4143170;4143196;4143171;5490154;6480464;6484113;6907045;7248688;7248687 11092762;10319819;11773055;18817839;18227733;18931364;18090083;18177927;18253123;18378144;19013511;12107344;18490106;17082813;17513560;16847061;15855338;19601660;16574987;19100955;18470603;17267327;18192848;19145435;19555701;18521931;18172282;18466900;18064531;18063461;18463494;17869439;16443785;19356238;19187597;19094082;18603371;18288275;17403612;19239902;19961901;18836575;22419868;22614867 20856198;22147199;21959934;18723680;18712678;18708163;18676680;18658137;18623086;18586680;18577580;18561948;18521960;18473402;18450750;18441516;18439040;18427836;18415689;18415681;18384375;18381704;18379198;18298948;18297401;18296636;18266005;18256791;18256758;18211414;18209072;18171980;18164959;18155731;18155705;18088367;18086147;18083346;18060501;18058802;18055116;18054197;18047842;18000616;17989718;17983802;17981569;17978580;17950632;17936584;17908973;17880920;17805550;17724022;17721932;17698513;17689858;17645689;17616526;17606900;17606719;17597071;17559062;17544405;17534194;17525639;17505517;17495975;17462862;17437405;17436592;17430778;17413988;17412564;17379327;17364171;17324936;17321792;17301822;17272816;17245643;17235653;17219053;17217622;17198755;17172814;17167422;17143787;17141888;17130234;17124493;17123522;17121821;17118559;17114647;17071630;17065568;17038954;10942389;9353287;9736630;11350920;12888622;10521396;8976194;9624143;10490026;10748026;10823823;11106668;11313965;11500511;17823127;11689006;16983089;18029348;9108473;11076937;16286477;19610261;19573080;19531679;19519609;19513559;19453261;19414860;19404232;19355923;19299722;19289465;19283487;19281794;19272183;19270727;19269008;19266703;19244543;19241192;19223905;19219602;19204086;19200347;19178812;19159073;19157506;19157504;19141860;19132366;19074885;19058789;19052714;19046417;19043361;18986328;18838202;18829519;18821563;18820371;18818379;18814044;18768468;18763039;18759060;18754867;17023557;17013758;17013756;16977583;16955788;16949642;16948902;16935258;16931214;16894574;16884727;16882668;16835231;16808908;16802364;16791842;16787777;16781734;16716256;16689860;16651613;16567804;16530191;16530181;16529748;16526059;16516911;16505307;16498457;16455648;16382148;16344560;22541080;22872644;16337360;16320828;16300929;16242324;16227597;16213496;16203739;16179347;16121124;16080782;16009347;15996160;15935070;15869582;15848173;15843892;15803189;15748808;15748158;15716280;15705385;15670787;15657356;15657349;15638357;15637055;15617521;15599395;15569692;15569672;15569669;15564512;15542841;15505416;15489334;15473998;15375594;15345747;15280469;15254227;15246206;15241180;15220451;15205454;15200957;15187159;15178331;15156398;15153940;15098015;15087450;15041704;15033815;15033720;15015772;15014070;14991812;14982947;14976035;14971566;14970175;14960581;14764700;14710359;22191568;11274152;11261798;11257232;11248093;11230124;11222676;11175261;11162351;11162250;11149901;11098060;11084335;11058115;11053413;11042212;11024045;11016947;10998058;10926122;10896157;10821855;10799874;10791974;10777594;10770929;10734073;10713703;10712510;10708425;10675528;10672017;10671544;10629060;10611247;10608812;10602513;10602493;10579725;10564664;10556977;10510468;10479680;10469173;10454555;10438581;10435619;10432301;10409750;10364179;10205159;10205158;10200531;10103059;10082566;10069390;10066732;10022118;9990034;9933635;9894612;9878167;9875225;9857079;9850056;9811849;9799125;9786869;9751706;9708895;9705209;9694885;9685336;9671712;9660939;9632733;9618490;9593687;9545236;9535906;9525868;9452471;9422780;9395403;9384571;9368003;9367996;9361003;9351817;9348292;9337844;9334338;9334240;9323209;9298992;9267021;9252332;9235961;9233763;9230442;9219695;9208847;9206994;9115219;9045680;9021152;8943232;8900201;8812467;8804412;8780721;8755496;8696339;8673606;8626669;8605870;8044845;7983002;7774019;7596430;1067155;16330530;16897667;16520893;17140287;16480911;11462036;16111829;14993250;14555204;12190962;12019321;11141237;14684629;14678329;14674699;14657946;14623896;14612448;14572611;14570914;12897143;12874324;12867600;12854132;12837287;12833566;12824190;12809603;12804035;12792782;12788938;12788227;12760639;12750404;12750393;12707329;12700660;12700630;12686427;12677451;12657644;12643601;12621124;12611892;12606589;12605885;12598529;12581734;12579342;12576443;12576296;12566444;12515825;12511568;12490308;12483536;12477932;12444137;12438416;12425945;12401855;12397210;12393901;12390838;12297281;12235123;12228224;12210761;12207967;12186978;12181742;12181128;12169388;12151338;12150947;12149654;12145703;12124386;12118383;12112012;12107159;12095993;12080079;12070657;12070005;12055227;12044963;12036886;12032677;12004072;11992386;11989976;11988074;11981455;11972398;11960384;11948397;11927604;11904443;11901153;11875078;11866986;11859414;11854437;11840332;11825902;11815631;11802788;11795487;11788610;11787859;11752060;11748221;11741893;11696595;11675509;11602184;11555640;11551979;11550094;11526478;11517310;11514563;11509621;11479289;11478781;11470874;11447297;11438643;11437602;11425872;11423904;11420704;11399776;11387340;11356849;11345898;11331419;11283607;11278797;11278782;11278572;11278424;11278283;10430052;9548463;16511342;16338743;16120388;15725353;15578977;12404116;15179054;15767427;11123279;11177389;15204919;11752215;11170436;11359776;11002417;8962078;11832478;9326610;15806167;15735701;15706351;10862606;15650747;15258591;15186778;10704341;22482362;22764223;20683843;20580881;20667824;20862799;21667042;20492341;20566630;20683021;22607239;18330265;10899937;11278287;11830582;12787561;16204230;16501604;16979168;17080552;18844072;18946722;19170196;19351510;19544333;19549685;19550122;19553679;19557639;19559790;19567200;19585117;19598027;19604093;19625176;19626422;19636556;19655253;19655415;19665028;19692168;19698994;19715609;19723039;19724860;19724907;19738422;19759058;19773279;19774677;19784808;19788069;19788411;19807657;19826114;19838207;19854241;19937139;19942343;19956888;19996122;19996272;19996275;19996278;20001963;20025478;20041182;20045442;20068062;20072652;20085765;20101263;20103643;20104682;20142237;20198319;20227371;20299368;20307198;20383567;20402676;20423928;20453000;9278461;9334214;16463650;20042134;20512574;20632819;20947770;21029675;21178828;20150439;16083554;19730442;19770576;19770581;20038816;20424172;20962079;20063052;20839416;21123558;20619728;20702410;19913121;20180022;20450729;20530714;20628086;20644561;20661084;20855536;20959405;21048031;20665667;20929126;20087649;21479362;20919853;17261582;20966960;21160486;21248767;21506333;21270757;21099290;21099299;21944661;21216952;21237154;18476631;18652315;20738749;20814064;20950443;21123175;22885173;22939953;22952982;21382445;21307660;20598358;21504623;19379562;19035131;19570417;19840460;21203962;21223758;21441410;21561870;21706480;19236754;21151026;21775054;17498346;21700414;21484410;21317880;23650375;20722551;22949938;20060927;20723300;21644232;21671484;19258326;21827945;21880013;21098975;21555338;21756903;19240112;21729540;22504224;22013052;18585351;20346214;23703388;23724505;21548803;21724551;21785112;21869592;21875325;22298410;18727869;21139048;21802116;21890473;21914347;22238643;21668377;21081164;21142842;21148072;21624464;21682651;21819468;22136337;22184067;22309278;22320973;19322201;20981869;22072751;22242595;21725926;22429842;11242052;11257230;16543147;16869888;17069460;17291493;17340613;19698783;23568731;23591201;12624662;15507451;17337451;21319273;22302483;17008916;23103707;23421973;23545262;9840926;22912727;22944165;22429811;23152053;23156805;23170789;23386603;12821118;21963094;21988832;22796265;22815893;23000965;22121772;22568453;22931643;23170075;8689682;22678593;22951837;23221544;23271051;17488272;17653867;17928446;17967742;18074388;18092356;18300076;18551626;18669646;19013323;19275584;19275586;19275587;19319745;19458171;19655254;19692467;19812265;19878567;19895210;19925402;20012528;20340172;20404718;20628645;20801175;21255440;21483469;21483669;21859712;21926353;22094081;22216281;22496955;22552851;22629415;22683311;22837201;22844442;22832123 836 A8MVM1;C9JXR7;P42574 ABBA01070517;AC073932;AC079257;AJ413269;AK291337;AMYH01014768;AU127028;AU133051;AY219866;BC016926;BU753483;BX647609;CH471056;CQ786438;GM887507;HI179110;HI179112;NM_004346;NM_032991;U13737;U13738;U26943 AAA65015;AAA74929;AAB60355;AAH16926;AAO25654;ABM82469;ABM85657;BAF84026;CAC88866;CAG17895;CAI46084;CAV28500;CBX53863;CBX53864;EAX04673;EAX04674;EAX04675;EAX04676;NP_004337;NP_116786;P42574 Hs.141125 1688472;1715807;1725607;1775825;2121640;2172288;2175439;5492153 Casp3;D4S3281;G10724;G62021;RH119600;RH46486;SHGC-59603;SHGC-67239 CPP32;CPP32B;SCA-1 CASP-3;CPP-32;OTTHUMP00000165052;OTTHUMP00000165053;OTTHUMP00000165054;OTTHUMP00000165055;OTTHUMP00000224230;OTTHUMP00000224231;PARP cleavage protease;SREBP cleavage activity 1;Yama;apopain;caspase 3, apoptosis-related cysteine protease;caspase-3;cysteine protease CPP32;procaspase3;protein Yama APPROVED protein-coding ENSG00000164305 1504 02799 600636 REVIEWED 1343162 CASP4 caspase 4, apoptosis-related cysteine peptidase This gene encodes a protein that is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain and a large and small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This caspase is able to cleave and activate its own precursor protein, as well as caspase 1 precursor. When overexpressed, this gene induces cell apoptosis. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 11 11 q22.2-q22.3 104318804 104344535 - 104813594 104839325 - 1580863;6480464 17353931;7743998;7797510;19414860;19269008;18056395;18029041;17942194;16920334;15975932;15500642;15489334;15326478;15146197;15123740;14702039;12477932;12096920;10872455;10477277;10329646;10069390;9875225;9792675;9694885;9539746;9250871;9233763;8962078;8125298;7797592;1919001;11927604;22733992;19573080;19773279;20237496;20402676;20453000;20855536;20514521;19705160;21832049;21781452;20816908;21282934;21317160;21479362;21984918;22246630 837 E9PMT1;H0YD34;P49662 A48861;ABBA01039912;AI128358;AK057094;AK225751;AK296081;AK304222;AL050391;AMYH01004002;AP001153;AP002004;BC008060;BC017839;CH471065;CN261701;EF636667;NM_001225;NM_033306;U25804;U28014;U28976;U28977;U28978;U28979;Z48810 AAA75171;AAA86890;AAC99850;AAC99851;AAC99852;AAC99853;AAC99854;AAH17839;ABM82909;ABM86099;ABR09278;BAG51861;BAG58837;BAG65094;CAA03154;CAA88750;CAB43686;EAW67050;EAW67051;EAW67052;EAW67053;NP_001216;NP_150649;P49662 Hs.138378 1339264;1669308;1737281;2143843 D11S1886;D11S3145;D11S4641;RH16178 ICE(rel)II;ICEREL-II;ICH-2;Mih1/TX;TX CASP-4;ICE(rel)-II;OTTHUMP00000231863;OTTHUMP00000231864;apoptotic cysteine protease Mih1/TX;caspase 4, apoptosis-related cysteine protease;caspase-4;protease ICH-2;protease TX APPROVED protein-coding ENSG00000196954 1505 04047 602664 REVIEWED 732006 CASP6 caspase 6, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in two transcript variants that encode different isoforms. [provided by RefSeq, Jul 2008] 4 4 q25 110829234 110844078 - 110609785 110624629 - 1300048;2301331;1582381;2301336;2301314;2301320;2301337;2301338;2301316;2301332;2301339;6480464;6907045 11311984;11406539;17283169;15749343;15010362;15507514;15210759;15662549;11086028;10574243 12888622;7796396;19414860;19269008;19219602;19052714;19022247;18820706;18762957;18497562;18155731;17392160;16977583;16948818;16518869;16341674;16135563;16123779;21621544;15735701;15654952;15511269;15500642;15489334;15356202;15321985;15280469;15273717;12477932;12232792;12145703;12089322;12052891;11953316;11901153;11802788;11514563;11463840;11438643;11423904;11387340;11356849;11331782;11262188;11246070;11098060;10770929;10734073;10655504;10481058;10469173;10438520;10432301;10409650;10205159;10069390;9990034;9933635;9857079;9593687;9463409;9337844;9298992;9228018;9219695;8978814;8962078;8900201;8812467;8780721;8710882;7983002;15103018;11832478;16169070;15200957;14713958;17167422;17337451;11016947;11859414;18029348;18946722;19573080;19694615;19773279;19897582;19915487;20332099;20402676;20427671;20437871;21111746;21098228;20661084;20606168;20682790;20855536;20890311;20702410;10103059;22891250;18408014;22433863;21317160;21936563;21139048;21900206;21906983;22683611;20097875;20801175;21918813;22094081;22505724 839 D6RBM3;D6RHU3;P55212 ABBA01063783;AC004067;AMYH01014458;AY254046;BC000305;BC004460;BM837197;CH471057;NG_029187;NM_001226;NM_032992;U20536;U20537 AAC50168;AAC50169;AAH00305;AAH04460;AAO63494;ABM85515;ABW03757;EAX06244;EAX06245;NP_001217;NP_116787;P55212 Hs.654616 1645970;1698608;1769507;1791093;1791095;1791097;1795472;2116221;2170477;5015961;5022322 CASP6_488;D11S2560;D15S1477;D4S262;RH102859;SHGC-19815;SHGC-19828;SHGC-51589;csnpcasp6-pcr2-1;csnpcasp6-pcr5-1;csnpcasp6-pcr6-1 MCH2 CASP-6;OTTHUMP00000162742;OTTHUMP00000162743;apoptotic protease MCH-2;caspase 6;caspase 6, apoptosis-related cysteine protease;caspase-6 APPROVED protein-coding ENSG00000138794 1507 03321 601532 REVIEWED 1298347 CASP7 caspase 7, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 10 10 q25 115428925 115480654 + 115438921 115490668 + 734511;1580863;2314187;4143196;4143171;5684540;5684535;5684536;6480464;5684537;5684539;6907045 14679087;17082813;19239902;19961901;18785314;20702827;17596683;17646170;19168786 22561518;12665508;12888622;8567622;8576161;9325343;9922454;11257231;19269008;19241192;19219602;19141860;19058873;19052714;19022247;18708163;18596415;18521960;18459962;18086147;18072206;17978580;17880920;17697120;17532763;17504820;17094969;17023557;16918502;16498457;16344560;16213496;16123041;15735701;15650747;15511269;15500642;15489334;15033720;14623896;14584591;14583630;12970753;12951057;12824163;12804035;12586738;12477932;12181742;12145703;12107159;11943137;11904443;11859414;11829465;11815631;11802788;11755217;19414860;19323650;11752425;11555640;11535131;11514563;11448953;11425872;11423904;11399776;11387340;11359776;11356849;11278572;11257230;11170436;11084335;11058599;11024045;10998058;10791974;10731697;10675528;10564664;10469173;10318789;10200531;10082581;10069390;9990034;9894612;9850056;9671712;9607320;9593687;9535906;9525868;9384571;9337844;9323209;9230442;9228018;9219695;9070923;8962078;8812467;8780721;8755496;8631895;8521391;8125298;7983002;1056466;11257232;11832478;15580265;10862606;15200957;14713958;9298992;15507451;17337451;22548721;17167422;19770576;20566630;20468060;11016947;11420704;11875078;16385451;19531679;19573080;19581639;19604093;19605487;19617626;19655253;19738422;19759058;19773279;19782763;19826114;19996278;20159985;20379614;20402676;20453000;20800603;20819778;20855536;20959405;19913121;20567846;20628086;20661084;21157428;20950443;23190606;23383273;14512414;16339151;19698783;21555521;10103059;22863883;23000965;23650375;9875225;21484410;19258326;21936563;22441531;22184066;21142842;8889548;22451931;21044950;22584050;15254227;19655254;19692467;20404718 840 B4DWA2;Q5SVL1;Q5SVL2;Q96BA0 AB451281;AB451413;ABBA01062991;ABBA01062992;AK223489;AK298964;AK300578;AK301437;AL592546;AL627395;AMYH01003081;AU130224;BC015799;BM976488;BP429646;BQ006259;BQ007179;BT006683;BX487250;BX647973;CH471066;DC332144;DC364916;DC384804;GM887522;NM_001227;NM_001267056;NM_001267057;NM_001267058;NM_033338;NM_033339;NM_033340;U37448;U37449;U39613;U40281;U67206;U67320 AAC50303;AAC50304;AAC50346;AAC50352;AAC51153;AAF21460;AAH15799;AAP35329;ABM84695;ABM92231;ACE86696;ACE87380;BAG61059;BAG62277;BAG62964;BAG70095;BAG70227;CAV28504;EAW49494;EAW49495;EAW49496;EAW49497;EAW49498;NP_001218;NP_001253985;NP_001253986;NP_001253987;NP_203124;NP_203125;NP_203126;P55210 Hs.9216 1736030;1768691;2109111;2171199 CASP7_81;D10S1306E;RH18047;SHGC-33054 CASP-7;CMH-1;ICE-LAP3;LICE2;MCH3 CASP-7;ICE-like apoptotic protease 3;Lice2 alpha/beta/gamma;OTTHUMP00000020510;OTTHUMP00000020511;OTTHUMP00000020512;OTTHUMP00000020513;OTTHUMP00000020514;apoptotic protease MCH-3;caspase 7 isoform delta;caspase 7, apoptosis-related cysteine protease;caspase-7 APPROVED protein-coding ENSG00000165806 1508 03457 601761 REVIEWED 730846 CASP8 caspase 8, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq, Jul 2008] 2 2 q33-q34 201806411 201860679 + 202098166 202152434 + 734696;734695;1580863;1300048;2311427;2311428;2311429;2311245;2311439;2311319;2311430;2311431;2314002;2314187;2311435;2311436;2315744;1624191;2317230;4143170;4143196;4143171;6480464;6484113;6907045;7240710;7248688 12353035;10197541;19540304;19194987;17563067;17880769;15036620;15976052;16443785;12753807;18090083;17082813;18570579;18521931;18483392;15590916;19843670;17403612;19239902;19961901;22419868 21979465;22408249;21436691;8681376;11717445;14644197;11048727;11101870;12761501;10521396;18029348;10891503;9721089;10894160;12804595;12887920;19492233;19470771;19453261;19427028;19414860;19412632;19318553;19289465;19276244;19269008;19260109;19239323;19219602;19214744;19214542;19203830;19166881;19160091;19152111;19141860;19124506;19122169;19115040;19112091;19111387;19493480;19094228;19074885;19048627;19048023;19001123;18974049;18840411;18823701;18823309;18796435;18728974;18725521;18716417;18691973;18684943;18676836;18676680;18675369;18632964;18617900;18603835;18596409;18563783;18516683;18485876;18473402;18458084;18431743;18398042;18381704;18362937;18343995;18324486;18305469;18216014;18161513;18158779;18097748;18089800;18089778;18086677;18076022;18054197;18045865;17940865;17932347;17911615;17891485;17726263;17684142;17666167;17627287;17626072;17623017;17616526;17599062;17585337;17572490;17545522;17534194;17532763;17525260;17450141;17436592;17378240;17337451;17314102;17293864;17290218;17272309;17224200;17182797;17170703;17071630;17064406;17047155;17030903;17018785;16951203;16938569;16886176;16762833;16733806;16722146;16636047;16633737;16619028;16607283;16556893;16541419;16538383;16528386;16478725;16446372;16436380;16397500;16374545;16344560;16251207;16242324;16227629;16225956;16193064;16186808;16179941;16179347;16135563;16036110;15956881;15906362;15849201;15815621;15782135;15760909;15746428;15735742;15735701;15701651;15650242;15645452;15640164;15637055;15611097;15601643;15592525;15592455;15531912;15509781;15507484;15492869;15489334;15476874;15473998;15390286;15389560;15369772;15289853;15280356;15262979;15254227;15210716;15205454;15159409;15111130;15069192;15067048;15034549;15024054;15015772;12052891;12041673;12037669;12021264;12010809;11992615;11965497;11933563;11917123;11877293;11865194;11788820;11772515;11752160;11751897;11751056;11741396;11735112;11734564;11733517;11683038;11583996;11555640;11514563;11479289;11437602;11431480;11423904;11420686;11406564;11395500;11387340;11340079;11264300;11181075;11161814;11102441;11101867;11098060;11085743;11002417;11000244;10964557;10926122;10911620;10860845;10734073;10716992;10708425;10616217;10508784;10493725;10469173;10442631;10438581;10435619;10235259;10069390;9990034;9971775;9931493;9878167;10432301;9875225;9804161;9792675;9763668;9727492;9727491;9632733;9624166;9575181;9560245;9539746;9380701;9337844;9334338;9325248;9289491;9271594;9228018;9219695;9208847;9184224;9006941;8962078;8755496;8681377;8521391;7983002;3031469;170210;12404116;15578977;15142380;11177389;19060883;18570872;15659383;12911633;9774341;11832478;16169070;11741985;9326610;15383280;10329646;14993214;14991747;14982947;14982875;14970175;14759258;14701762;14688019;14644092;14625033;14584591;14560027;14522966;13679856;12960156;12912912;12888622;12841868;12754217;12750404;12750393;12748179;12738800;12721308;12707329;12702723;12700660;12700635;12692130;12668660;12646168;12620239;12598529;12527898;12507932;12496482;12496481;12477932;12438416;12393901;12232792;12218097;12215447;12198154;12196516;12191471;12189238;12170765;12131184;12122017;12107169;12107159;12097160;12096338;12095993;12065591;12220669;9535906;14713958;22644571;12884866;22211869;21444671;19778795;20572163;21178828;11016947;11260720;16183855;16497673;16936772;17159907;18245485;18328427;18455983;19170196;19345995;19372376;19521670;19528225;19531679;19542541;19543235;19550122;19573080;19597472;19617217;19625176;19629679;19644511;19665028;19684859;19692168;19698994;19710364;19738422;19773279;19795398;19801665;19807657;19826114;19852930;19854135;19902255;19923319;19954364;19996275;20005201;20033885;20044137;20080300;20086182;20145138;20150972;20176653;20198319;20237344;20308068;20353946;20363033;20402676;20443055;20453000;20471133;20502973;9027312;21183680;20564345;20799830;20978129;22820578;22843554;23244104;20132554;20811726;20951133;20013803;20356928;20403046;20565257;19913121;20143425;20398055;20554749;20605201;20628086;20644561;20652397;20661084;20677014;20804486;19432816;19770581;20379197;20937773;21166494;20033750;20808443;20613771;20702410;21135236;20606168;20800603;20802294;20819778;20855536;20877624;20959405;20978178;21048031;20087649;20616437;20870287;21157428;22513478;22806078;22815944;23289213;21487429;21107701;21282461;20829884;21072056;21248767;21419663;21380726;21104989;21153367;12753742;20724831;11940602;21454681;19593445;22588838;22672670;22691345;23096115;23071110;21328377;20817393;23081800;21524651;21628531;15717329;21667042;21751259;21801448;21525013;21633787;19773432;20825417;23418437;22949938;18387192;22864571;23230268;23255602;21669575;22383778;21714991;20085538;21569377;21576355;21697465;21426305;21538054;19343040;21554547;21620750;21737329;21900206;21816816;19240112;22037414;22267217;21865223;21822306;21868312;21988832;22274400;23185580;20448643;20671745;20972266;21139048;21906983;22179575;22659694;21548803;21724551;21785112;21704196;21785459;22056502;22339913;22027693;20301425;21461653;21819468;21983787;22010212;22160860;22253841;11684016;12765336;16920630;18776134;19373245;22528489;22266862;22322857;22508042;19258216;22357491;15388581;21396853;15507451;22297296;22683265;22683266;22120515;22860893;22922291;22801217;22421964;17442709;17488272;17653867;18625728;19013323;19125371;19176810;19275584;19275586;19692467;19812265;20012528;20404718;21183955;21458669;21483669;21803845;22094081;22585859;22632162;22971934;23142077 841 C9JB29;E7EQ01;E7EQ06;E7ETB7;E7EVN1;F8WF39;H7BZM4;H7C0E2;Q96T22 AA312258;AB038985;AB451282;AB451414;ABBA01062536;ABBA01062537;ABBA01062538;ABBA01062539;AC007256;AC007283;AF009620;AF102139;AF102140;AF102141;AF102142;AF102143;AF102144;AF102145;AF102146;AF207672;AF380342;AF422926;AF422927;AF422928;AF422929;AI351872;AK310630;AL600571;AL601594;AL702116;AMYH01011403;BC010390;BC017031;BC028223;BC068050;BG498355;BX395849;CB990598;CH471063;DA420056;DB157537;DQ355026;EU168332;EU670044;HA637638;HI179126;HI179128;HI179130;HI179132;NG_007497;NM_001080124;NM_001080125;NM_001228;NM_033355;NM_033356;NM_033358;U58143;U60520;X98172;X98173;X98174;X98175;X98176;X98177;X98178 AAB70913;AAC50602;AAC50645;AAD24962;AAG10682;AAH68050;AAK57437;AAL87629;AAL87630;AAL87631;AAL87632;AAY24225;ABC67468;ABX09989;ACF93415;BAB32555;BAG70096;BAG70228;CAA66853;CAA66854;CAA66855;CAA66856;CAA66857;CAA66858;CAA66859;CAZ39541;CBX53871;CBX53872;CBX53873;CBX53874;EAW70253;EAW70254;EAW70258;EAW70262;NP_001073593;NP_001073594;NP_001219;NP_203519;NP_203520;NP_203522;Q14790 Hs.599762 1646319;1650227;1651195;1662030;1674567;1777685;1793550;1852911;2154216;5014051;5022651;5117897 A008P44;D11S2921;D2S1853;D8S2278;G29514;GDB:631813;PMC230316P2;RH15884;RH36454;RH70497;RH70951;RH78960 ALPS2B;CAP4;Casp-8;FLICE;FLJ17672;MACH;MCH5;MGC78473 FADD-homologous ICE/CED-3-like protease;FADD-like ICE;ICE-like apoptotic protease 5;MACH-alpha-1/2/3 protein;MACH-beta-1/2/3/4 protein;MORT1-associated ced-3 homolog;OTTHUMP00000163717;OTTHUMP00000163720;OTTHUMP00000165062;OTTHUMP00000165063;OTTHUMP00000165064;OTTHUMP00000206552;OTTHUMP00000206557;OTTHUMP00000206581;apoptotic cysteine protease;apoptotic protease Mch-5;caspase 8, apoptosis-related cysteine protease;caspase-8 APPROVED protein-coding ENSG00000064012 1509 03459 114480;114550;211980;601763;607271 REVIEWED 1344349 CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle) This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013] 1 1 1 q21 133229049 133240436 + 158426989 158438300 + 160160285 160171676 + 1580863;2314136;2314137;2314133;2314134;2314135;6480464;7204686 15561962;11976916;18269685;17681849;15561963;20356453 7945294;18452871;17009399;16344560;15489334;12477932;8406504;2321095;20682687;22060633;22337878;7599203;7666833;8660374;9125222;23460944 844 C9JAC8;P31415 AA197256;ABBA01016614;AI141895;AK300713;AK313250;AL121987;AL139011;AMYH01001451;BC022289;BF574316;BX500008;CH471121;DA766051;NM_001231;S73775 AAB32063;AAH22289;ABM82911;ABM86101;BAG36060;BAG62390;EAW52736;NP_001222;P31415 Hs.632476 1690448;1778365;1852760 RH17912;RH64698;RH79623 CASQ;PDIB1 OTTHUMP00000029889;calmitin;calmitine;calsequestrin, skeletal muscle isoform;calsequestrin-1 APPROVED protein-coding ENSG00000143318 1512 15915 114250 REVIEWED 1314005 CASP8AP2 caspase 8 associated protein 2 This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Nov 2008] 6 6 q15 90596379 90640876 + 90539619 90584155 + 6480464 10235259;12477726;15698540;19414860;18677100;18408764;18038312;17696945;17245429;17003126;17003125;16627760;15592525;15489334;15342556;14702039;12477932;12168954;11340079;10718198;10537104;15069192;15561718;20936779;19406988;19546234;19573080;19615980;19773279;19854135;20109966;20237496;21338522;21245389;19593445;23086935;22216762;19471022;15840729;17370265;21139048;21693764;21696825;21725362;21906983;20697732;22427918;22595458;21988832;23071092;20801175 9994 Q9P2N1 AB037736;ABBA01040539;ABBA01040540;ABBA01040541;ABBA01040542;ABBA01040543;AF154415;AF164678;AF165161;AJ420582;AK002070;AL353692;AMYH01016504;AMYH01016505;BC012574;BC027850;BC029386;BC042577;BC056685;BC132828;BC132830;BC150274;BP192859;BP363682;CH471051;NM_001137667;NM_001137668;NM_012115 AAD45157;AAD45537;AAF03367;AAH42577;AAH56685;AAI32829;AAI32831;AAI50275;BAA92067;BAA92553;EAW48540;EAW48541;EAW48542;EAW48543;EAW48544;NP_001131139;NP_001131140;NP_036247;Q9UKL3 Hs.558218 1647315;2107911;2137787;2154316 CASP8AP2_7960;RH47433;SHGC-52865;STS-H50583 CED-4;FLASH;FLJ11208;KIAA1315;RIP25 CASP8 associated protein 2;CASP8-associated protein 2;FLASH homolog RIP25;FLICE associated huge;FLICE-associated huge protein;OTTHUMP00000016860;human FLASH APPROVED protein-coding 1510 06048 606880 REVIEWED 737298 CASQ2 calsequestrin 2 (cardiac muscle) The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008] 1 1 p13.1 116044147 116112929 - 116242624 116311426 - 734697;1580863;6480464;6771208;6771209;6771235;7240710;7204686 11704930;21565973;21441944;1531837;20356453 9795116;19398665;19376574;19357236;18669926;18543230;18469084;18399795;17938175;17881003;17655857;17607358;17531962;17045261;16908766;16601229;15489334;15485681;15050380;14638677;14571276;12858557;12732448;12477932;12386154;11113462;11069905;10825439;10748065;9287354;8889548;8406504;8125298;7721813;1985907;15698842;19709828;22421959;20302875;21076409;20039900;21063088;21265816;19403607;21416293;21685173;22050625;21872879;22123818;22481011;17569730;20301466 845 B4DIB0;O14958 ABBA01068477;ABBA01068478;AK129831;AK129891;AK225959;AK293595;AK295502;AK313041;AL449264;AL450389;AMYH01000969;BC022288;BM679349;CH471122;D55655;DC423064;NG_008802;NM_001232 AAH22288;ABM84145;ABM87547;BAA23494;BAG35873;BAG57061;BAG58422;EAW56635;EAW56636;NP_001223;O14958 Hs.57975 1781786;2137533 AL009800;SHGC-155959 FLJ26321;FLJ93514;PDIB2 OTTHUMP00000013749;calsequestrin 2;calsequestrin 2, fast-twitch, cardiac muscle;calsequestrin, cardiac muscle isoform;calsequestrin-2 APPROVED protein-coding ENSG00000118729 1513 00256 114251;611938 REVIEWED 1343051 CATHL1 cathelicidin 1 (cyclic dodecapeptide, bactenin 1) 7589491 848 1517 1347815 CATHL2 cathelicidin 2 (bactenin 5) 7589491 850 1519 69147 CASP9 caspase 9, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 1 1 p36.21 15691378 15723377 - 15818769 15851285 - 1580863;1300048;2313963;2313998;2314002;2314187;2311432;2311244;2311320;2311322;2311466;2315928;2315929;2311430;2311245;2311436;2311319;2311246;2311321;2315933;2314390;2315930;2290492;6480464;6484113;6907045 18817839;18931364;18090083;17082813;19145435;18369072;15805231;14617576;16847061;20012353;19412632;16443785;17880769;18521931;15976052;16038259;15246841;17297389;17869439;19252927;17011986 9390557;11069302;9812896;9922454;19465923;19414860;19359048;19269008;19238172;19219602;19183163;19159073;19141860;19081073;19074885;19058789;19052714;19016842;18840411;18814044;18813792;18723680;18676680;18632964;18415681;18381704;18297401;18202770;18083711;18054197;17899380;17893147;17626072;17534194;17466630;17437405;17379327;17299206;17291493;17285546;17079734;17071630;17030903;16895904;16780893;16716256;16710414;16689829;16687442;16505493;16505307;16337360;16300929;16287866;16260615;16242324;16181301;15935070;15811855;15735701;15703181;15674327;15657349;15657060;15629764;15500642;15489334;15485396;15485395;15473998;15300255;15280366;15273730;15220451;15214043;14993223;14991812;14982875;14747474;14701803;14684629;14634335;14566819;12954616;12914932;12804035;12792650;12782307;12749848;12732844;12637514;12620239;12620238;12586738;12566444;12477932;12393884;12393263;12372609;12147322;12145703;12096338;12095993;12055227;12021264;11948397;11927604;11919192;11905052;11870543;11803376;11801603;11801602;11734640;11514563;11423904;11408476;11390657;11387340;11350957;11248093;18086147;19493480;11242052;11230124;11084335;11076957;11024045;10708425;10671558;10469173;10438581;10384055;10376594;10329646;10187815;10070954;9990849;9890966;9878060;9837928;9671712;9651578;9545235;9539746;9488720;9337844;9323209;8962078;8900201;8663294;7983002;1067155;16520893;17140287;11462036;16511342;16480911;15725353;15578977;12404116;15767427;11832478;11113115;16189514;15262985;15200957;15829969;16120388;22616010;22679284;19770581;21178828;20490276;16497673;16936772;16979168;19170196;19550122;19573080;19625176;19626422;19655415;19692168;19724860;19741144;19758996;19773279;19789190;19807657;19826114;19906200;20022954;20071584;20227371;20357690;20379614;20402676;20453000;20978129;22191568;14523016;21284734;19153467;20013803;20667824;19913121;20628086;20644561;20650551;20661084;20804486;15749826;20800603;20855536;20887385;20959405;21048031;20227384;16344560;17207965;20042134;21045158;21266831;21659556;21091209;21382445;10206961;21297999;21757755;21827945;20060927;21117896;21282934;21644232;21869827;21565459;21622622;21538054;21555338;21868008;18022362;21944661;21612408;21724551;21785112;21957492;21461653;22339913;21142842;21988832;22086301;14512414;16339151;16701639;17179183;19698783;15507451;22573662;22981751;22306364;23038270;10085063;11393657;23396972;23430060;23443079;23539542;23566959;23572523;23615977;23637769;22944165;16322207;21396853;22120515;15254227;17409234;17653867;17967742;19013323;19275583;19275584;19275586;19275587;19458171;19674438;19692467;19895210;20012528;20340172;20404718;21483669;22219640;22552851;22629415;22683311;22974165;23383273 842 F8VVS7;F8VWA5;H0Y3S8;H0Y6Y2;Q59GG2;Q5JRU2;Q5JRU8;Q9UEQ3 AA534393;AB015653;AB019205;AB020979;AB209147;ABBA01004708;AF093130;AF110376;AJ781267;AK292080;AK292111;AK303743;AL512883;AMYH01000270;AMYH01000271;AMYH01000272;AY214168;AY732490;BC002452;BC006463;BT006911;CH471167;DA078665;HY027003;NG_029188;NM_001229;NM_001278054;NM_032996;NR_102732;NR_102733;U56390;U60521 AAC50640;AAC50776;AAD12248;AAD13615;AAH02452;AAH06463;AAO21133;AAP35557;AAV33129;ABM82619;ADQ31742;BAA78780;BAA82697;BAA87905;BAD92384;BAF84769;BAF84800;BAG64715;CAH03131;EAW51730;EAW51731;NP_001220;NP_001264983;NP_127463;P55211 Hs.329502 1788286;1788288;1788290;1788292;1788294;1789807;1789809;1795474;1848686;1848918;2124737;2130918;2172257;5016781 CASP9_492;G67485;G67486;G67487;G67488;G67489;RH67819;SHGC-36104;SHGC-52575;SHGC-67307;SHGC-7118;SHGC-74255;csnpcasp9-pcr4-1;csnpcasp9-pcr6-1 APAF-3;APAF3;CASPASE-9c;ICE-LAP6;MCH6;PPP1R56 CASP-9;ICE-like apoptotic protease 6;OTTHUMP00000002322;OTTHUMP00000002323;OTTHUMP00000002324;OTTHUMP00000242817;OTTHUMP00000242819;apoptotic protease MCH-6;apoptotic protease activating factor 3;apoptotic protease-activating factor 3;caspase 9;caspase 9, apoptosis-related cysteine protease;caspase-9;protein phosphatase 1, regulatory subunit 56 APPROVED protein-coding ENSG00000132906 1511 03756 602234 REVIEWED 1352997 CATHL4 cathelicidin 4 (indolicidin) 7589491 852 1521 1351205 CATHL3 cathelicidin 3 (bactenin 7) 7589491 851 1520 1345684 CATHL5 cathelicidin 5 7589491 853 1522 1344569 CATHL6 cathelicidin 6 7589491 854 1523 1343768 CATR1 CATR tumorigenicity conversion 1 7604004 856 Q13166 U25433 2114498 SHGC-35496 1525 600676 10291 CASR calcium-sensing receptor The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq, Jul 2008] 3 3 q13 123385220 123488032 + 121902530 122005344 + 734699;1600616;1580863;1598940;734698;6480464;6484113;7207059;7205499;7205502;7205505;7205436;7205447;7205497;7207227;7205669;7205434;7205446;7205664;7205672;7207060;7204717;7205442;7205445;7205454;7205455;7205468;7205656;7205666;7205440;7205678;7205444;7205661;7205675;7205677;7205503;7205448;7240710;7205698 12241879;7916660;7874174;12671052;22192592;21034470;19887834;19640368;7493018;21183554;15347804;12239094;22730443;20846291;21966463;11044218;22527939;15637145;8813042;22844268;20602573;18852253;17537980;21667241;20501971;12239240;7726161;22098336;20705733;19188910;22137721;22137362;9253359;20067903;21766206 18328986;18322048;14713274;12018449;22192860;7759551;19474519;19471101;19453261;19432691;19423559;19397786;19350667;19328421;19285978;19237714;19179454;19157541;19133942;19088423;19073830;19066294;19058262;19038444;18980667;18938753;18843020;18796518;18756473;18751724;18712808;18703641;18680227;18676680;18622738;18621740;18525093;18497443;18443236;18410554;18393231;18348986;22315359;22403735;17122384;17110864;17097611;17062884;17054460;17046587;17018660;16938272;16854379;16740430;16738533;16735501;16642557;16622736;16616098;16598859;16596260;16509534;16497624;16472767;16278666;16218047;16147994;16117875;16109841;15960151;15888439;15879434;15864123;15837785;15805541;15781005;15718278;15684428;15657061;15613438;15598778;15591042;15579475;15572418;15551332;15531522;15501733;15489334;15472173;15219850;15201280;14985373;14976203;14729680;18296474;18065418;17979873;17974568;17962359;17932932;17853337;17698911;17623778;17591780;17513419;17482347;17478419;17473068;17463182;17426287;17374709;17374704;17372216;17332735;17331389;17320849;17310098;17309124;17284438;17138967;17132283;17124506;14660633;14508624;12914574;12899245;12890593;12783889;12773131;12700051;12656660;12605346;12574201;12544508;12517779;12477932;12469911;12459170;12409307;12399473;12150336;12095982;12052452;12050233;12040821;12036954;22187299;11979955;11907035;11889203;11889154;11863123;11762699;11668634;11589681;11390380;11390379;11248745;11161843;11108243;11095989;11013439;10487661;10405337;9920407;9920108;9852126;9722601;9694886;9677383;9298824;9217223;9168937;8756555;8733126;8702647;8675635;8613532;8597637;7677761;7673400;11984699;22798347;20421307;12356761;16513638;18240029;19011996;19035514;19151705;19170196;19257819;19389809;19621386;19625176;19690432;19692168;19695239;19706842;19716891;19789209;19839774;19912241;19915295;20034274;20130845;20164288;20237496;20361938;20364112;20424473;19580466;16754659;20595056;20798521;21048031;21082232;20457124;20631026;20668040;18577758;19913121;20558521;20558539;20628086;20634891;20648625;20654748;20661308;20697181;20826781;21084311;21130730;21414629;21187282;21209619;23103379;21240254;21532883;21566074;17555508;21317879;21441391;21369680;21340433;22107799;21965686;21843504;22024717;21645025;22094462;23169696;22424352;22577108;22144504;22278364;21393549;22210744;22158862;22010828;22422767;22789683;23125333;23271661;23247143;23300272;23372019;22449852;23108190 846 E7ENE0;P41180 ABBA01016471;AC068630;AC068754;AMYH01013430;AY259116;BC104999;BC112236;BP388878;CH471052;D50855;DQ088967;DQ327723;DQ327724;DQ327725;DQ327726;DQ327727;DQ327728;FJ360896;GM692549;JA910713;JB138639;NG_009058;NM_000388;NM_001178065;S68032;S68033;S68036;S79217;S81755;S83176;U20759;U20760;W56898;X81086 AAA86503;AAA86504;AAB29413;AAB29414;AAB29415;AAB35262;AAB46873;AAD14370;AAI05000;AAI12237;AAP20759;AAY68221;ABD04091;ABD04092;ABD04093;ABD04094;ABD04095;ABD04096;ACJ04039;BAA09453;CAA56990;CAV33589;CCV20013;CCW28005;EAW79490;EAW79491;EAW79492;NP_000379;NP_001171536;P41180 Hs.435615 1655751;1688126;1699736;1709796;1712741;1738925;1763765;1772873 D3S3193;RH103474;RH121068;RH99210;SHGC-147441;SHGC-35350;SHGC-77256;SHGC-84714 CAR;EIG8;FHH;FIH;GPRC2A;HHC;HHC1;MGC138441;NSHPT;PCAR1 OTTHUMP00000215576;OTTHUMP00000215577;calcium-sensing receptor;extracellular calcium-sensing receptor;parathyroid Ca(2+)-sensing receptor 1;parathyroid cell calcium-sensing receptor APPROVED protein-coding ENSG00000036828 1514 03122 145980;146200;239200;601199;612899 REVIEWED 1321668 CASS4 Cas scaffolding protein family member 4 20 20 20 q13.31 51727599 51774824 + 54420771 54467243 + 54987168 55034396 + 6480464 18256281;15489334;14702039;12477932;11780052;16344560;23001926;19380743 57091 B4DII4;Q9NQ75 ABBA01052892;ABBA01052893;AJ276678;AK027760;AK295613;AK308057;AK314653;AL121914;AMYH01012005;BC027951;BX280195;CH471077;DA584687;NM_001164114;NM_001164115;NM_001164116;NM_020356 AAH27951;BAB55351;BAG58496;CAC00655;EAW75541;EAW75542;EAW75543;EAW75544;EAW75545;EAW75546;EAW75547;NP_001157586;NP_001157587;NP_001157588;NP_065089;Q9NQ75 Hs.473144 1709174;2133205;2135529;5024761 D20S775;D20S777;RH36905;SHGC-85749 C20orf32;CAS4;HEFL;HEPL HEF-like protein;HEF1-EFS-p130Cas-like protein;OTTHUMP00000031328;OTTHUMP00000031329;cas scaffolding protein family member 4 protein-coding ENSG00000087589 15878 09842 VALIDATED 1321252 CATSPER1 cation channel, sperm associated 1 Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq, Jul 2008] 11 11 q12.1 65540799 65550560 - 65784223 65793988 - 1580863;6480464;7240710 16740636;19344877;16625279;16382101;16189514;14688170;12477932;11675491;11595941;11595929;21412338;21412339;18976756;20648059;21404705;20301780;22354039;23530196;23344959 117144 Q8NEC5 ABBA01024093;AF407333;AMYH01003728;AP006287;BC032950;BC036522;CH471076;NG_016285;NM_053054 AAH32950;AAH36522;AAL14105;EAW74488;EAW74489;NP_444282;Q8NEC5 Hs.189105 CATSPER;MGC33335;MGC33368;SPGF7 OTTHUMP00000233989;cation channel sperm-associated protein 1;hCatSper;sperm ion channel;sperm-associated cation channel 1 APPROVED protein-coding ENSG00000175294 17116 09396 606389;612997 REVIEWED 1316921 CATSPER2 cation channel, sperm associated 2 Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. This gene is part of a tandem repeat on chromosome 15q15; the second copy of this gene is thought to be a pseudogene. Additional splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Aug 2008] 15 15 15 q15.3 20691389 20709656 + 41710064 41728331 - 43922772 43941039 - 1580863;6480464 16740636;16382101;14702039;12477932;11675491;11595929;17207965;20379614;20301780 117155 B8ZZQ9;C9IZ96;E7EX46;F8W9H2;H7BZ89;H7C2X6;Q96P56 ABBA01049637;ABBA01049638;AC011330;AF411817;AF411818;AF411819;AK093318;AK122607;AMYH01006601;AW135409;BC028728;BC064387;BX648099;CH471308;NG_009283;NM_054020;NM_172095;NM_172097 AAH28728;AAH64387;AAL26490;AAL26491;AAL26492;ADQ32834;BAG53620;EAW50798;EAW50801;EAW50802;NP_473361;NP_742093;NP_742095;Q96P56 Hs.662284 1799086;1801674;1805630;1810882;1811414;1811656;1811982;1812056;1817178;1818190;1819356;1819688;1820688;1822272;1823790;1826022;1826114;1826116;1826206;1833094;1833560;1834894;1838602;1840486;1842610;1844786;1845826;1933032;1933034;1933036;1933038;1933040;1933042;1933044;1933046;1933048;1933050;1933052;1933054;1933056;1933058;1933060;1933062;1933064;1933066;1933068;1933070;1933072;1933074;1933076;1933078;1933080;1933082;1933084;1933086;1933088;1933090;1933092;1933094;1933096;1933098;1933100;1933102;1933104;1933106;1933108;1933110;1933112;1933114;1933116;1933118;1933120;1933122;1933124;1933126;1933128;1933130;1933132;1933134;1933136;1933138;1933140;1933142;1933144;1933146;1933148;1933268;1933276;1933278;1933286;1933300;1933302;1933312;1933318;1933356;2208940;2208942;2208944;2208946;2208948;2208950;2208952;2208954;2208956;2208958;2208960;2208962;2209022;2209024;2209026;2209030;2209032;2218338;5014003;5022651;5037552 CATSPER2_4515;D11S2921;D17S1136;D8S2279;ECD00389;ECD01716;ECD03765;ECD06439;ECD06705;ECD06831;ECD06996;ECD07033;ECD09639;ECD10152;ECD10745;ECD10911;ECD11419;ECD12222;ECD12987;ECD14120;ECD14166;ECD14167;ECD14214;ECD17689;ECD17923;ECD18597;ECD20475;ECD21429;ECD22512;ECD23609;ECD24132;REN37348;REN37349;REN37350;REN37351;REN37352;REN37353;REN37354;REN37355;REN37356;REN37357;REN37358;REN37359;REN37360;REN37361;REN37362;REN37363;REN37364;REN37365;REN37366;REN37367;REN37368;REN37369;REN37370;REN37371;REN37372;REN37373;REN37374;REN37375;REN37376;REN37377;REN37378;REN37379;REN37380;REN37381;REN37382;REN37383;REN37384;REN37385;REN37386;REN37387;REN37388;REN37389;REN37390;REN37391;REN37392;REN37393;REN37394;REN37395;REN37396;REN37397;REN37398;REN37399;REN37400;REN37401;REN37402;REN37403;REN37404;REN37405;REN37406;REN37467;REN37471;REN37472;REN37476;REN37483;REN37484;REN37489;REN37492;REN37511;stSG627831;stSG627832;stSG627833;stSG627835;stSG627836;stSG627837;stSG627838;stSG627840;stSG627841;stSG627842;stSG627843;stSG627845;stSG627910;stSG627911;stSG627912;stSG627914;stSG627917 MGC33346 OTTHUMP00000066276;OTTHUMP00000066277;OTTHUMP00000066278;OTTHUMP00000199626;cation channel sperm-associated protein 2;sperm ion channel APPROVED protein-coding ENSG00000166762 18810 16236 607249 REVIEWED 1606535 CASZ1 castor zinc finger 1 The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 1 1 1 p36.22 9808055 9967917 - 10619248 10779294 - 10696661 10856733 - 6480464 21490919;17044048;17940511;18805397;22262398;19430479;17727731;16710414;16631614;16322216;15489334;14702039;12477932;8125298;21572416;18029348;20479155;21252912;21832049;22068036;22331471 54897 B3KRV8;K7EQC6;Q9NXC6 AA449398;ABBA01035608;ABBA01035609;ABBA01035610;ABBA01035611;ABBA01035612;ABBA01035613;ABBA01035614;AK000328;AK022285;AK092289;AK130996;AK225324;AK293839;AK311700;AL031984;AL139423;AL157717;AMYH01000247;AMYH01000248;AMYH01000249;AMYH01000250;BC004410;BC051883;CH471130;DQ217660;DQ372703;NM_001079843;NM_017766;R85589 AAH04410;AAH51883;ABB29845;ABD14411;ABZ92343;BAA91089;BAC85474;BAG52520;BAH11609;EAW71662;EAW71663;NP_001073312;NP_060236;Q86V15 Hs.439894 1335260;1670168;1693780;1732922;1733052;1748407;1765175;1765405;1849199;2171498 AL009635;D1S1327;D1S1401;D1S2213;D1S3153;D4Ertd432e;SHGC-148685;SHGC-148892;SHGC-31243;SHGC-58917 CAS11;CST;FLJ12223;FLJ20321;RP4-734G22.2;SRG;ZNF693;dJ734G22.1 OTTHUMP00000002017;OTTHUMP00000002018;castor homolog 1, zinc finger;castor-related protein;putative survival-related protein;survival related;survival-related;zinc finger protein 693;zinc finger protein castor homolog 1 APPROVED protein-coding ENSG00000130940 26002 07897 609895 REVIEWED 1625093 CATSPER2P1 cation channel, sperm associated 2 pseudogene 1 Catsper genes belong to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. This gene is part of a tandem repeat on chromosome 15q15; this copy of the gene is thought to be a pseudogene. [provided by RefSeq, Oct 2008] 15 15 15 q15.3 20917594 20927959 - 41815424 41825788 - 44028132 44038496 - 18085818;17098888;12825070;12477932;18974790 440278 ABBA01039224;ABBA01039225;ABBA01039226;AC018512;AMYH01006606;BC047442;BC052612;BC066967;NR_002318 Hs.253260 1798698;1799086;1801048;1805630;1810882;1811656;1817956;1818400;1819356;1819688;1834894;1837116;1838908;1841470;1842610;1844552;1844786;1933092;1933096;1933112;1933114;1933120;1933122;1933126;1933132;1933144;1933156;1933302;1933304;1933306;1933308;1933310;1933312;1933314;1933316;1933318;1933320;1933322;1933324;1933326;1933328;1933330;1933332;1933334;1933336;1933338;1933340;1933342;1933344;1933346;1933348;1933350;1933352;1933354;1933356;1933358;1933360;1933362;1933364;1933366;1933368;1933370;1933372;1933374;2208950;2208954;2208962;2209026;2209028;2209030;2209032;2209034;2209036;2209038;2218338 CATSPER2_4515;ECD00189;ECD00389;ECD01392;ECD03765;ECD06439;ECD06831;ECD10033;ECD10258;ECD10745;ECD10911;ECD18597;ECD19723;ECD20633;ECD21931;ECD22512;ECD23490;ECD23609;REN37378;REN37380;REN37388;REN37389;REN37392;REN37393;REN37395;REN37398;REN37404;REN37411;REN37484;REN37485;REN37486;REN37487;REN37488;REN37489;REN37490;REN37491;REN37492;REN37493;REN37494;REN37495;REN37496;REN37497;REN37498;REN37499;REN37500;REN37501;REN37502;REN37503;REN37504;REN37505;REN37506;REN37507;REN37508;REN37509;REN37510;REN37511;REN37512;REN37513;REN37514;REN37515;REN37516;REN37517;REN37518;REN37519;REN37520;stSG627837;stSG627840;stSG627845;stSG627912;stSG627913;stSG627914;stSG627917;stSG627918;stSG627919;stSG627922 APPROVED pseudo ENSG00000205771 31054 VALIDATED 737362 CAST calpastatin The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010] 5 5 q15 96023697 96136143 + 95997741 96110387 + 1580863;1626249;5509809;5509819;5509812;5509823;5509799;5509801;5509800;5509813;5509814;5509817;5509810;5509822;5509818;5509821;5683871;5683619;6480464;5683320;5683321;5683620;5683622;5683623;5683872;5683869 17429681;19020018;15654835;17359359;11035539;20595388;20116408;20127884;16467455;16314468;16236382;17853947;11264179;15863237;15307896;15563579;9256029;10722997;10318818;7706496;15540513;12367559;12482022;16871587 17474147;19365859;19103264;18809371;18793761;18724972;18544539;18537264;18519038;18498295;18340456;18195134;18165173;17950697;17137217;17081983;16381901;15950654;15820218;15489336;15489334;15302935;15014085;14992597;14702039;14685690;14612448;14559243;12923177;12684003;12591934;12482888;12477932;11978196;11849768;11230166;11076863;10942721;10859257;10822276;10731697;10600505;9873017;9705209;9213221;8340353;7998969;7951045;7710300;7638179;2849943;2577276;2559735;2553724;2265559;1995645;1569094;2548504;2407243;22572592;15101818;19581569;19756344;20379614;20953190;19913121;20628086;20679491;21263028;22206846;22939629;22863883;21983488;21424381;21531560;21839844;21937422;21906983;22046434;22286212;19322201;22288381;23449483;23140395;15044459 831 B7Z468;B7Z574;D6RAA8;D6RBR1;D6RBZ8;D6RC54;D6RGF7;E7EN75;E7EQ12;E7EQA0;E7EQK6;E7ES10;E7ESM9;E7EVY3;E9PCH5;E9PDE4;E9PSG1;F8W7E0;H0Y7F0;H0Y944;H0Y9H6;H0YA91;H0YD33;P20810;Q59HE3;Q86YM9 AB026049;AB208816;ABBA01069229;ABBA01069230;ABBA01069231;AC008906;AC020900;AF095891;AF327443;AK098137;AK292289;AK292356;AK296919;AK297879;AK298541;AK299384;AK299402;AK300624;AK302206;AK303836;AK303900;AK311585;AK311598;AK314290;AK315146;AK315673;AL832174;AL832349;AMYH01015491;AY189741;BC013579;BC016066;BC078149;BQ420953;BQ893654;BT009783;BX648397;CD702474;CH471084;D16217;D50827;DB450697;DC424542;DR004967;M28227;M28228;M28229;M28230;M33328;M86258;NG_029490;NM_001042440;NM_001190442;NM_173060;NR_033798;S73329;U26724;U31345;U31346;U38525;U58996;U83601 AAA52066;AAA52296;AAA80684;AAB32311;AAB41237;AAB59398;AAB60371;AAB60372;AAC14353;AAC50136;AAD09102;AAG48151;AAH13579;AAH16066;AAH78149;AAO34397;AAP88785;ABM82405;ABM85594;BAA03747;BAA09438;BAA76923;BAD92053;BAF84978;BAF85045;BAG37594;BAG38038;BAH12454;BAH12685;BAH12810;BAH13022;BAH13025;BAH13316;BAH13650;BAH14064;BAH14077;CAL38303;CAL38312;EAW96064;EAW96065;EAW96066;EAW96067;EAW96068;EAW96069;EAW96070;EAW96071;EAW96072;EAW96073;EAW96074;EAW96075;EAW96076;NP_001035905;NP_001177371;NP_775083;P20810 Hs.436186 1652811;1661367;1666189;1777714;1794170;1854165;2106439;2117015;2140895;2151084;2151157;2162460;2182273;2187627;5095827;5106759;5121009 A009U12;ARTS-1__4376;D5S1571E;D5S2413;D5S2629;D5S2667;PMC310823P10;RH36372;RH46487;RH47549;RH69827;RH70772;RH77935;RH79021;STS-D29461;WI-18741;WI-7819 BS-17;MGC9402 OTTHUMP00000158519;OTTHUMP00000158520;OTTHUMP00000179127;OTTHUMP00000222728;OTTHUMP00000222729;OTTHUMP00000222731;OTTHUMP00000222732;OTTHUMP00000222733;OTTHUMP00000222734;OTTHUMP00000222735;OTTHUMP00000222737;OTTHUMP00000222738;OTTHUMP00000222739;OTTHUMP00000222740;OTTHUMP00000222748;OTTHUMP00000222806;calpain inhibitor;calpastatin;sperm BS-17 component APPROVED protein-coding ENSG00000153113 1515 00233 114090 REVIEWED 1313883 CATSPER3 cation channel, sperm associated 3 5 5 5 q31.1 130427337 130471182 + 134331513 134375285 + 134303596 134347397 + 1580863;6480464 18391951;17227845;16382101;12932298;12646162;12477932;23568457;23263487 347732 Q86XQ3 ABBA01068730;AC004764;AC008406;AC008670;AF432876;AK292427;AMYH01015626;AW008956;AY156951;BC101692;BC110384;BI827754;BN000272;CH471062;NM_178019 AAI01693;AAI10385;AAO13012;AAO85416;BAF85116;CAE30476;EAW62228;NP_821138;Q86XQ3 Hs.631804 1778009;1780656;2126389 RH69300;SGC30875;bac51529T CACRC;MGC126741 OTTHUMP00000159408;ca(v)-like protein;calcium channel repeat containing 1;cation channel sperm-associated protein 3;one-repeat calcium channel-like protein;putative ion channel CatSper3 protein-coding ENSG00000152705 20819 16447 609120 VALIDATED 732740 CAT catalase This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009] 11 11 p13 34417054 34450183 + 34460472 34493607 + 1581147;1581148;1581149;1581150;1581151;1300375;1300048;1580863;2317410;5130200;5130770;5130747;5130748;5130873;5130750;4293707;5130744;5130751;5130752;5130864;5130871;5130856;5130199;5130201;5130202;5130768;5130869;5130749;5130891;5130753;5130760;5130761;5130771;5130772;5130773;5130860;5130875;5130876;5130878;5130745;5130755;5130756;5130867;6480464;6907045;7240710;7205651;7205676;7205647;7205662;7205663;7205665;6892947;7206853;7205671 15735318;14575298;11510883;10652196;10618301;2308162;12499913;20888583;21471094;19895324;19842849;21339256;19693467;20080081;19959187;19475625;19445928;16804020;21452373;18048809;21190578;20653246;20534640;19151196;21463646;19778612;21213399;19373626;19196076;19188683;20493834;20376213;18793622;17895592;21314438;21305585;10569634;19897513;19298531;19273541;16622028;22315314;20299359;22443450;21686137;21557843;21525431;20007347;22733796;20685819 22167619;10656833;16644728;18312938;18379038;11134921;17053817;19505917;19497990;19424819;19336475;19274593;19255063;19254215;19242068;19172437;19124506;19092850;19064360;19050255;18977241;18949620;18936436;18930811;18682580;18634817;18606005;18485895;18483329;18469277;18423055;18415766;18368408;18353692;18248894;18171680;17937824;17879952;17850515;17696155;17693525;17646900;17634480;21083503;17601350;17577741;17567781;17567676;17549373;17548672;17264407;17213227;17209132;17171548;17145829;17005595;16956821;16868544;16775184;16773213;16729966;16630078;16600249;16586065;16554811;16523188;16504657;16482509;16467073;16453382;16424062;16387755;16385446;16298864;16236267;16204228;16192345;16098030;16076760;16047490;16026777;15988600;15934434;15870505;15800961;15774926;15733034;15705913;15556604;15528999;15489334;15472150;15203188;15182856;15133753;15131792;15125229;14962975;14710363;14580687;12950161;12838770;12824748;12777400;12730222;12665801;12606529;12603857;12516882;12487379;12477932;12469627;12468545;12447480;12372460;12231449;12165738;12110367;12032677;11907164;11837458;11729237;11728823;11479740;11313354;11182520;11106583;10960480;10666617;10567403;22108257;22089180;22286031;10488055;10096042;9848047;9818873;8479912;8282800;6548744;6252821;3944256;3755526;3755525;2268310;1551654;14975589;21069346;13904105;17566139;19170196;19341793;19399816;19409565;19538885;19584075;19615732;19622717;19625176;19688952;19692168;19705749;19731237;19787204;19855359;19863340;19874574;19896490;19897742;19902075;19929244;20020532;20049130;20078877;20082261;20097730;20105444;20109103;20110814;20194081;20416077;20444272;20494887;2991908;7829101;20732340;21179281;21131394;10567208;20923778;19913121;20301895;20485444;20613769;20628086;20643115;20649881;20727719;20851292;20878976;21053180;21054578;21054877;21191398;21109199;19949914;21799178;21295602;21180245;22958044;21832049;22939629;22970972;20178365;22736749;19479899;21417634;21964540;21976670;21689642;21827848;21829032;21921984;21985966;21985133;10514471;16781659;18781797;21139048;21890473;21906983;22242279;22907559;23340375;22058000;21968610;21947853;22880027;22465269;21988832;22002062;23390647;22556393;22998821;23066387;22645453 847 P04040;Q8TAK2 ABBA01060865;AK291585;AK301577;AK310184;AK315350;AL035079;AMYH01003488;AW023382;AY028632;AY545477;BC027300;BC110398;BC112217;BC112219;BI551632;CA748580;CH471064;K02400;L13609;NG_013339;NM_001752;X04076;X04085;X04096 AAA16651;AAB59522;AAH27300;AAI10399;AAI12218;AAI12220;AAK29181;AAS37679;ADR83058;BAF84274;BAG37746;BAG63070;CAA27717;CAA27721;EAW68170;EAW68171;NP_001743;P04040 Hs.502302 1664950;1671591;1675714;1691346;1718063;1741589;1742569;1748229;1748231;1748233;1748235;1748237;1760133;1795476;2131494;2143706;2146784;2151707 CAT_1268;D11S4340;G66721;G66722;G66723;G66724;G66725;GDB:181548;GDB:197896;RH122649;RH26629;RH27361;RH45987;RH78515;SHGC-132034;STS-H15685;STS-X04076;WI-19159 MGC138422;MGC138424 OTTHUMP00000041455;catalase APPROVED protein-coding ENSG00000121691 1516 00282 115500;614097 REVIEWED 1322128 CATSPERG catsper channel auxiliary subunit gamma CATSPERG is a subunit of the CATSPER (see CATSPER1; MIM 606389) sperm calcium channel, which is required for sperm hyperactivated motility and male fertility (Wang et al., 2009 [PubMed 19516020]).[supplied by OMIM, Jul 2010] 19 19 19 q13.1 35628680 35663824 + 43518298 43553422 + 38826443 38861589 + 737633;6480464 12477932 19516020;16344560;14702039;22990118;22118674 57828 B8ZZI7;F8WDD6;H9KV36;K7EQR6;K7EQY4;M0QZ16;O75294;Q32MQ2;Q6ZRH7 ABBA01040680;AC005625;AC005789;AC026806;AK096218;AK128039;AK128220;AK310460;AL133023;AMYH01009780;AW072458;BC033852;BC060889;BC094785;BC109035;BG719195;CH471126;DB096694;NM_021185 AAC34570;AAC34571;AAI09036;BAC87333;CAH56391;EAW56777;EAW56778;EAW56779;EAW56780;EAW56781;EAW56782;EAW56783;NP_067008;Q6ZRH7 Hs.324335 1677895;1719517;5014019;5015404;5016851;5020414;5020946;5022383;5037552;5109281 D1S1425;D5S2354;D8S2279;ECD04345;L17688;L17705;L17971;RH123479;RH80031;RH92232 C19orf15;DKFZp434A1022;FLJ38899;FLJ46353;MGC125664 OTTHUMP00000203420;OTTHUMP00000203421;OTTHUMP00000203422;OTTHUMP00000203424;cation channel sperm-associated protein subunit gamma;cation channel, sperm-associated, gamma APPROVED protein-coding ENSG00000099338 25243 12698 613452 VALIDATED 1350186 CATSPER4 cation channel, sperm associated 4 1 1 1 p35.3 24913482 24925399 + 26389706 26401620 + 26517119 26529033 + 6480464 12932298;17227845;16382101;20546612;12477932;19343178 378807 J3KNU1;Q7RTX7 ABBA01034899;AL355877;AMYH01000396;BC128138;BC128139;BC144663;BN000273;CH471059;NM_198137 AAI28139;AAI28140;CAE30475;EAX07839;NP_937770;Q7RTX7 Hs.123532 1672198;1685343;1732890;2107941;2163704;5019647 A006D29;CNKSR1_9077;D1S1309;G32327;RH92197;STS-R48282 MGC149223 OTTHUMP00000008765;OTTHUMP00000228342;OTTHUMP00000228343;cation channel sperm-associated protein 4;ion channel CatSper4 protein-coding ENSG00000188782 23220 18607 609121 VALIDATED 1604493 CATSPERD catsper channel auxiliary subunit delta 19 19 19 p13.3 5658055 5716734 + 5671688 5729742 + 5720688 5778742 + 6480464 12477932;20379614;21224844 257062 F5GZE9;Q86XM0 ABBA01055991;ABBA01055992;ABBA01055993;ABBA01055994;ABBA01055995;ABBA01055996;ABBA01055997;ABBA01055998;AC011499;AK128088;AMYH01009364;AMYH01009365;AMYH01009366;BC031233;BC043005;CH471139;NM_152784 AAH31233;AAH43005;EAW69148;EAW69149;EAW69150;NP_689997;Q86XM0 Hs.631842 5014051;5015619;5016596;5016700;5022200;5037552 D11S3114;D8S2278;D8S2279;GDB:631802;L18426;RH79802 MGC39581;TMEM146 OTTHUMP00000183708;OTTHUMP00000183709;catSper-delta;catSperdelta;cation channel sperm-associated protein subunit delta;transmembrane protein 146 APPROVED protein-coding ENSG00000174898 28598 17541 VALIDATED 1345422 CATSPERB catsper channel auxiliary subunit beta 14 14 14 q32.12 72095740 72251049 - 91116871 91268166 - 92047118 92198413 - 6480464 17478420;17081983;14702039;12477932;20164292;10737800;20967262 79820 B3KWW9;G3V2V0;G3V352;G3V584;H0YJA5;Q9H7T0 ABBA01030472;ABBA01030473;ABBA01030474;AK024360;AK126034;AL121839;AL133373;AMYH01005954;AMYH01005955;BC016315;BC126214;BC126216;BE695220;FY210737;FY211725;FY212048;FY212994;NM_024764 AAI26215;AAI26217;BAB14896;BAG54281;NP_079040;Q9H7T0 Hs.131755 1338522;1679177;1725545;1732001;1748757;1759151;1760491;1775766;2120016;2158511;2164412 D14S280;D14S300;G35406;G35485;G35722;G36228;RH119171;RH99035;SHGC-110388;SHGC-1415;SHGC-143431 C14orf161;CatSper(beta);FLJ14298 OTTHUMP00000245150;catSper-beta;cation channel sperm-associated protein subunit beta;cation channel, sperm associated beta;cation channel, sperm-associated, beta APPROVED protein-coding ENSG00000133962 20500 16613 611169 VALIDATED 1319231 CBFA2T2 core-binding factor, runt domain, alpha subunit 2; translocated to, 2 In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008] 20 20 q11 31541589 31701498 + 32077928 32237837 + 1580863;6480464 16966434;19026687;18586123;16713569;16189514;15489334;15302935;15146197;12477932;12242670;11780052;10675041;9790752;9787195;9447981;16407974;14703694;15333839;22443175;19060904;20520637;16227606;20211142;21832049;22498736 9139 A2A2D9;Q5TGE8;Q68DC6;Q96B06 AB209306;ABBA01019224;ABBA01019225;ABBA01019226;ABBA01019227;ABBA01019228;ABBA01019229;ABBA01019230;AF013970;AF039200;AF052210;AF052211;AF052212;AF068266;AF069747;AF076452;AK294168;AK307887;AK314159;AL034421;AL121906;AL162505;AMYH01011854;AMYH01011855;BC015066;BC016298;BC040344;CB998035;CH471077;CN347014;CR749462;NM_001032999;NM_001039709;NM_005093 AAC17499;AAC19378;AAC39841;AAC64699;AAC64700;AAD02825;AAD41221;AAH15066;AAH16298;AAH40344;ABZ92457;ADZ15879;BAD92543;BAG36843;BAG57490;CAH18294;EAW76311;EAW76312;EAW76313;NP_001028171;NP_001034798;NP_005084;O43439 Hs.153934 1340073;1646524;1646526;1665442;1691604;1693348;1698658;1735006;1759673;1847943;2120842;2125577;2144188;2145511;2152036;2154841;2158757;2167380;2170936;2174444;2185541;5022450;5022651;5037552;5109281;5121147 A001X17;AL032536;AL034532;CHLC.GATA24A11;D10S275;D11S2921;D1S1425;D20S1071;D20S552E;D20S554E;D20S734;D20S815;D20S890;D8S2279;G06317;G18081;G19744;G31204;RH102888;RH11816;RH16591;RH18390;SHGC-150946;SHGC-7112;T15360;Z94436 DKFZp313F2116;EHT;MTGR1;ZMYND3;p85 ETO homolog on chromosome 20;ETO homologous on chromosome 20;MTG8-like protein;MTG8-related protein 1;OTTHUMP00000030653;OTTHUMP00000030654;OTTHUMP00000030656;myeloid translocation gene-related protein 1;myeloid translocation-related protein 1;protein CBFA2T2 APPROVED protein-coding ENSG00000078699 1536 04721 603672 REVIEWED 1344208 CAV3 caveolin 3 This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008] 3 3 p25 8750496 8763451 + 8775486 8788451 + 1599529;1582168;1599542;1580863;6480464;6484113;6907045;7240710 9537420;15925413;12566108 8567687;7797570;10988290;17275750;12847114;17524427;17060380;19481058;19380584;19238754;19219452;19101541;18930476;18671188;18583131;18509671;18487559;18253147;17615539;17537631;17405141;17307729;17210839;17039257;16770780;16563233;16521037;16479074;16458928;16247063;16082247;15682833;15668980;15580566;15564037;15541368;15489334;15099591;14981167;14749532;14729862;14672715;14663034;14600260;12939441;12839838;12666119;12648214;12557291;12477932;12387816;12082049;11904769;11884389;11821059;11805270;11756609;11532985;11431690;11251997;11115849;11001938;10835421;10746614;10386585;9756945;9545514;9536092;9374534;9353265;9252390;10066366;22879586;18985008;19544087;19584897;19773168;20201926;20346360;20229577;20558763;20472890;19913121;20628086;21084288;23071107;21362625;21496630;21362533;21294223;22236542;20301308;20301559;20301725;18936328;21988832;15703204;23237801 859 P56539 AA993189;ABBA01020417;AC068312;AF036365;AF036366;AF036367;AF043101;AF204690;AK291892;AMYH01012962;BC069368;BC102033;BC102036;BC102037;BF310794;BX114193;CH471055;NG_008797;NM_001234;NM_033337;Y14747 AAC14931;AAC39756;AAC39758;AAG02025;AAH69368;AAI02034;AAI02037;AAI02038;BAF84581;CAA75042;EAW63945;EAW63946;NP_001225;NP_203123;P56539 Hs.98303 1338032;1687642;2218340 CAV3_2400;D3S1597;RH92828 LGMD1C;LQT9;MGC126100;MGC126101;MGC126129;VIP-21;VIP21 M-caveolin;OTTHUMP00000115603;OTTHUMP00000207105;caveolin-3 APPROVED protein-coding ENSG00000182533 1529 03154 123320;192600;601253;606072;607801;611818;614321 REVIEWED 1321512 CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3 This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] 16 16 q24 87468768 87570902 - 88941263 89043504 - 1580863;6480464 16966434;9447981;18950503;18656694;18586123;18456661;15231665;14703694;14702039;12477932;12242670;12213200;12183414;11999578;11823486;9790752;9596646;16407974;11533236;22443175;23153540;20116376;20138877;15342556;20603019;22420028;22498736;19497860;22010104;21988832;23127762;17203973;23251453 863 E7EU24;H3BMZ0;H3BNH2;H3BNI7;H3BR72;H3BSI4;H3BU07;J3QRB1;Q0P5Z6 AB010419;AB010420;AB013286;ABBA01013588;ABBA01013589;ABBA01013590;ABBA01013591;ABBA01013592;AC092384;AF052213;AF052214;AF052215;AF052216;AF052217;AF052220;AK090985;AK097904;AK308355;AK314766;AMYH01007917;AMYH01007918;AMYH01007919;AMYH01007920;AMYH01007921;BC009554;BC047019;BC062624;BE243049;BE676580;BP282804;CH471184;HI573916;HI573918;NG_029533;NM_005187;NM_175931 AAC64698;AAC64701;AAC64702;AAH47019;AAH62624;ABZ92419;BAA29061;BAA29062;BAA31276;BAA31277;BAG37304;BAG52257;CBX47447;CBX47448;EAW66746;EAW66747;EAW66748;EAW66749;EAW66750;EAW66751;EAW66752;NP_005178;NP_787127;O75081 Hs.513811 1666229;1678241;1716377;1762953;1764563;2131458 RH121368;RH93203;SHGC-146703;SHGC-148155;SHGC-61188;SHGC-64049 ETO2;MTG16;MTGR2;ZMYND4 MTG8-related gene 2;MTG8-related protein 2;OTTHUMP00000175195;OTTHUMP00000175196;hMTG16;myeloid translocation gene 8 and 16b;myeloid translocation gene on chromosome 16 protein;protein CBFA2T3;zinc finger MYND domain-containing protein 4 APPROVED protein-coding ENSG00000129993 1537 04847 603870 REVIEWED 1343117 CAV2 caveolin 2 The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism, cellular growth control and apoptosis. This protein may function as a tumor suppressor. This gene and related family member (CAV1) are located next to each other on chromosome 7, and express colocalizing proteins that form a stable hetero-oligomeric complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Additional isoforms resulting from the use of alternate in-frame translation initiation codons have also been described, and shown to have preferential localization in the cell (PMID:11238462). [provided by RefSeq, May 2011] 7 7 q31.1 115926680 115935831 + 116139655 116148595 + 1600654;1625364;1580863;6480464;6784517;6784520;6484113;6907045 16258026;17060028;22528460;22492718 10212252;8552590;12743374;15788404;11256614;18081315;17912630;17898556;17671707;17615539;17567994;17081983;16904002;16521037;16381901;16244790;15968725;15703204;15583422;15569306;15504032;15489336;15489334;12866378;12813462;12782592;12690205;12648214;12496259;12477932;12414992;12138116;12091389;11752456;11515846;11294831;11076863;10817676;10675615;10464308;10218480;10087206;9837809;9801158;9707634;9361015;7829101;7479780;1360410;10675563;12633858;16169070;16799092;19948975;20062060;20209490;20346360;21373752;19913121;20628086;20819778;20835238;16341674;21178094;17192395;16344560;21321670;21551225;21873608;21900206;22236542;21139048;11238462;23056496;21489836;22819829;19931615 858 E9PCT3;P51636;Q53X57 AA878149;AA883287;AACC02000001;AB451285;AB451417;ABBA01057808;AC006159;AF035752;AI762868;AJ011300;AJ133269;AJ242718;AK024513;AK310786;AK311964;AMYH01017881;AV650449;AW022298;AY353255;BC005256;BM542127;BM762545;BT007051;BX350116;CH236947;CH471070;CR407685;DA882274;DQ656068;NG_029920;NM_001206747;NM_001206748;NM_001233;NM_198212 AAB88492;AAH05256;AAP35700;AAQ57600;BAG34904;BAG70099;BAG70231;CAB36907;CAB63653;CAB65090;CAG28613;CAL38690;EAL24361;EAL24362;EAW83499;EAW83500;EAW83501;EAW83502;NP_001193676;NP_001193677;NP_001224;NP_937855;P51636 Hs.212332;Hs.603096 1676476;1797348;1802708;1803184;1803692;1805770;1813864;1813938;1816738;1826650;1836322;1838350;1845638;1848956;1851284;1991982;1991984;1991986;1991988;1991990;1991992;1991994;1991996;1991998;1992000;1992002;1992004;1992006;1992008;1992010;1992012;1992014;1992016;1992018;1992020;1992022;1992024;1992026;1992028;1992030;1992032;1992034;1992036;1992038;1992040;1992042;1992044;1992046;1992048;1992050;1992052;1992054;1992056;1992058;1992060;2093226;2093228;2093230;2093232;2093234;2093236;2093238;2143975;5015619;5022234;5022578;5037552 CAV2_2353;D11S3114;D1S1423;D7S2814;D8S2279;ECD02241;ECD02483;ECD02752;ECD03836;ECD07958;ECD07996;ECD09413;ECD14439;ECD19323;ECD20349;ECD24037;L17708;REN66896;REN66897;REN66898;REN66899;REN66900;REN66901;REN66902;REN66903;REN66904;REN66905;REN66906;REN66907;REN66908;REN66909;REN66910;REN66911;REN66912;REN66913;REN66914;REN66915;REN66916;REN66917;REN66918;REN66919;REN66920;REN66921;REN66922;REN66923;REN66924;REN66925;REN66926;REN66927;REN66928;REN66929;REN66930;REN66931;REN66932;REN66933;REN66934;REN66935;RH65870;RH80255;STS-U32114;stSG597940;stSG597942;stSG597943;stSG597945;stSG597946;stSG597947;stSG597948 CAV;MGC12294 OTTHUMP00000025032;OTTHUMP00000195982;caveolae protein, 20-kD;caveolin 2 isoform a and b;caveolin-2 1643439 BW101_H APPROVED protein-coding ENSG00000105971 1528 03029 601048 REVIEWED 619568 CAV1 caveolin 1, caveolae protein, 22kDa The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010] 7 7 q31.1 115952075 115988466 + 116164839 116201239 + 1581152;1581153;1581154;1600654;1625360;1625364;1580863;2289101;2289102;2289112;2289109;2289124;2289103;2289106;2289110;2289111;2289113;2289120;2289125;2289100;2289104;2289105;2289107;2289116;2289123;2296031;6480464;6784517;6784532;6784520;6784526;6484113;6907045;7240710 16417587;15353500;11529503;16258026;17470567;17060028;17915016;17786030;11170154;14506154;17275798;16328005;15355971;12866378;11751529;11032026;17487232;17234162;9685399;15948133;15375584;15247769;17986358;17293479;17952758;22528460;22492718;21795534 11845324;22395498;22506673;22544366;22575653;21445970;21841821;22095627;22200856;22277751;22353223;22402147;19032226;19015640;19002186;18992712;18992284;18985008;18957516;18936967;18923542;18922892;18836420;18802406;18793348;18789131;18698612;18681962;18676680;18667611;18667513;18635971;18598695;18596970;18561140;18543249;18458534;18444242;18439424;15485672;15485671;15466889;15466865;15458387;15353589;15334058;15314095;15274335;15263006;15242332;15240128;15234575;15234566;15205342;15201341;15190056;15182174;15069532;15064242;15003536;14981899;14963033;14729661;14719121;14706341;14665433;14660607;14645548;14612902;14593097;14576164;12888893;12816877;12813462;12810205;12737162;12732636;12730243;12716887;12711000;12694195;12690205;12648214;12606314;12562842;12529448;12507501;12477932;12429840;12414992;12414512;12401329;12388423;12372346;12368209;12359771;12354760;12235142;12186899;12185081;12176037;12138116;12122055;12011038;11980479;11956154;11920460;11915322;11866528;11865038;11294831;12852865;19052258;17848177;12388746;12743374;14707126;15219854;15703204;9188442;9580552;10781589;16722822;16807357;19521982;19499152;19487814;19475601;19411449;19411448;19395651;19381331;19369293;19342880;19286607;19250636;19244345;19234134;19219452;19123976;19121286;19116988;19104007;19061949;19059381;18434090;18406871;18332144;18312604;18308897;18301242;18300018;18296864;18282163;18258603;18245088;18237401;18211975;18203815;18180853;18162583;18081315;18065769;18054388;18053095;17942630;17936759;17935714;17933968;17906498;17898556;17855368;17851687;17850762;17786288;17785436;17713785;17707459;17699771;17671707;17662641;17626097;17615539;17609206;17594718;17556531;17537407;17478448;17460461;17379346;17359972;17341888;17334644;17314510;17299799;17287217;17284246;17272740;18437015;17245131;17237399;17202321;17200343;17197700;17190831;17179151;17178917;17111160;17081983;17047056;17014845;16979166;16951145;16931572;16920641;16904002;16897435;16877379;16870193;16857240;16850311;16822931;16820915;16790997;16723714;16713605;16617096;16616146;16608879;16601841;16601146;16541313;16501093;16480767;16443388;16407214;16405917;16381901;16338968;16332692;16324201;16263077;16251425;16244790;16225848;16202996;15969750;15968725;15958730;15951569;15817451;15811424;15769846;15722199;15691837;15665033;15657086;15592498;15592455;15590415;15531587;15504729;15498565;15496150;15489336;15489334;11805080;11748236;11707266;11751885;11563984;11546661;11498016;11451957;11432874;11278309;11256614;11238032;11114180;11112773;11102446;11078729;11076863;11075810;11039464;10988071;10921915;10675563;10637311;10598578;10218480;10212252;10090765;10087206;10086342;10085129;10066366;9867838;9837809;9801158;9741627;9662443;9647788;9553108;9380697;9374534;9361015;9110174;8910575;8910295;8632005;8621645;8619474;8058322;1360410;1294831;15539149;14675200;11724572;12147258;10980191;11563969;15782218;23067370;23117935;21901744;22057638;22159333;22593443;21165568;21378366;21133631;20543983;22730441;22772753;12633858;16344560;16799092;17010968;18759267;19002697;19038362;19160064;19170196;19288272;19386787;19434519;19477952;19483189;19483462;19494002;19556867;19581923;19582878;19609943;19614762;19614763;19620302;19625176;19641024;19679565;19692168;19706615;19716156;19718657;19718715;19759399;19767411;19787257;19801678;19816600;19820694;19828204;19846513;19887621;19893453;19897728;19930645;19948975;20031158;20062060;20062063;20127227;20153318;20209490;20346360;20371787;19965594;20374325;20392844;20021823;21302621;20427576;20629037;20736308;16890161;20187291;18510854;20700465;19960513;20395445;20881564;20819778;20855565;21041450;20835238;20581046;20923773;20940300;20977883;20729193;20610713;19913121;20463894;20605793;20628086;20558341;20835266;21106507;22454521;22824620;20624795;20810358;21373757;21551225;21152401;12753742;17192395;21039037;20411337;20819483;21098633;21109942;20842066;21372166;21430048;21148404;11425855;21693152;21882259;22241747;22277251;22939629;22127416;23300727;23645736;23333919;23335559;21321670;22433870;22547813;22238363;20345844;21514437;21335944;21584795;21585620;21611203;21683457;21789897;21246406;21440420;21473727;21729786;22883991;23267770;23302227;21690289;21609392;21613355;22807396;19595769;21340433;22898083;21471610;21840940;19446582;19931615;20460433;20177058;21804187;21074769;21715681;21822278;21521946;11278759;20646460;21803870;21861625;21951852;21965771;21965789;22502704;21949119;21761200;21873608;21925842;21139048;21890473;21906983;22142403;23482776;20826780;21382479;21416157;22215724;22316086;22528500;22571278;22659071;17803693;21199324;21918362;21976276;22038047;22072235;22075971;22128235;22152020;22194465;22201996;22236542;22287735;22353809;22411794;16107720;21701559;21909981;22041584;22134245;22275353;22323292;22378247;22474125;22484374;22547061;22474227;22748181;18218624;9252391;22513979;23606537;22936677;22952906;23000965;17502619;23139255;23280667;23206456;23383114;23056496;23352616;22240009;23004679;23393366;22370641;23114650;19010547;21704113;22706202;22745744;22564243;22883195;22931092;22693251 857 A9XTE5;C9JKI3;E9PCT5;F8WDM7;Q03135;Q2TNI1;Q59E85;Q7Z4F3 AACC02000001;AB209926;AB451284;AB451416;ABBA01057807;ABBA01057808;AC006159;AF019742;AF070648;AF074993;AF095591;AF095592;AF095593;AF125348;AF172085;AI878826;AJ133269;AK290871;AK307501;AL133639;AMYH01017881;AMYH01017882;AY762103;BC006432;BC009685;BC082246;BG170208;BT007143;CH236947;CH471070;DA477166;DA943080;DB266251;EF179102;EF649773;EF649774;NG_012051;NM_001172895;NM_001172896;NM_001172897;NM_001753;Z18951 AAB82538;AAD23745;AAD34722;AAH09685;AAH82246;AAP35807;AAQ13608;AAX07830;ABM81573;ABM84753;ABW03274;ABW22625;ABW22626;BAD93163;BAF83560;BAG70098;BAG70230;CAA79476;CAB63654;CAL38555;EAL24360;EAW83503;EAW83504;EAW83505;NP_001166366;NP_001166367;NP_001166368;NP_001744;Q03135 Hs.74034 1671217;1690408;1799182;1800390;1801348;1803036;1803748;1806926;1808082;1808220;1808428;1808580;1808582;1808642;1808720;1808794;1809948;1811358;1811430;1811506;1811916;1812496;1814404;1814828;1814902;1823388;1824700;1825178;1825968;1826652;1826654;1826758;1827456;1828746;1831856;1833728;1834532;1834602;1834768;1835244;1835606;1836806;1837692;1840508;1840994;1842022;1843132;1991580;1991582;1991584;1991586;1991588;1991590;1991592;1991594;1991596;1991598;1991600;1991602;1991604;1991606;1991608;1991610;1991612;1991614;1991616;1991618;1991620;1991622;1991624;1991626;1991628;1991630;1991632;1991634;1991636;1991638;1991640;1991642;1991644;1991646;1991648;1991650;1991652;1991654;1991656;1991658;1991660;1991662;1991664;1991666;1991668;1991670;1991672;1991674;1991676;1991678;1991680;1991682;1991684;1991686;1991688;1991690;1991692;1991694;1991696;1991698;1991700;1991702;1991704;1991706;1991708;1991710;1991712;1991714;1991716;1991718;1991720;1991722;1991724;1991726;1991728;1991730;1991732;1991734;1991736;1991738;1991740;1991742;1991744;1991746;1991748;1991750;1991752;1991754;1991756;1991758;1991760;1991762;1991764;1991766;1991768;1991770;1991772;1991774;1991776;1991778;1991780;1991782;1991784;1991786;1991788;1991790;1991792;1991794;1991796;1991798;1991800;1991802;1991804;1991806;1991808;1991810;1991812;1991814;1991816;1991818;1991820;1991822;1991824;1991826;1991828;1991830;1991832;1991834;1991836;1991838;1991840;1991842;1991844;1991846;1991848;1991850;1991852;1991854;1991856;1991858;1991860;1991862;1991864;1991866;1991868;1991870;2093256;2093258;2093260;2093262;2093264;2093266;2093268;2093270;2093272;2093274;2093276;2093278;2093280;2093282;2093284;2093286;2093288;2093290;2093292;2093294;2093296;2093298;2093300;2093302;2093304;2093306;2093308;2093310;2093312;2129974;2142771;2156196 D7S2756;D7S2864;ECD00439;ECD01055;ECD01546;ECD02409;ECD02781;ECD04428;ECD05019;ECD05091;ECD05195;ECD05272;ECD05273;ECD05303;ECD05342;ECD05380;ECD05966;ECD06677;ECD06713;ECD06753;ECD06962;ECD07255;ECD08231;ECD08445;ECD08482;ECD12784;ECD13448;ECD13690;ECD14093;ECD14440;ECD14441;ECD14493;ECD14844;ECD15500;ECD17066;ECD18009;ECD18414;ECD18449;ECD18532;ECD18777;ECD18959;ECD19567;ECD20013;ECD21441;ECD21690;ECD22214;ECD22774;REN66695;REN66696;REN66697;REN66698;REN66699;REN66700;REN66701;REN66702;REN66703;REN66704;REN66705;REN66706;REN66707;REN66708;REN66709;REN66710;REN66711;REN66712;REN66713;REN66714;REN66715;REN66716;REN66717;REN66718;REN66719;REN66720;REN66721;REN66722;REN66723;REN66724;REN66725;REN66726;REN66727;REN66728;REN66729;REN66730;REN66731;REN66732;REN66733;REN66734;REN66735;REN66736;REN66737;REN66738;REN66739;REN66740;REN66741;REN66742;REN66743;REN66744;REN66745;REN66746;REN66747;REN66748;REN66749;REN66750;REN66751;REN66752;REN66753;REN66754;REN66755;REN66756;REN66757;REN66758;REN66759;REN66760;REN66761;REN66762;REN66763;REN66764;REN66765;REN66766;REN66767;REN66768;REN66769;REN66770;REN66771;REN66772;REN66773;REN66774;REN66775;REN66776;REN66777;REN66778;REN66779;REN66780;REN66781;REN66782;REN66783;REN66784;REN66785;REN66786;REN66787;REN66788;REN66789;REN66790;REN66791;REN66792;REN66793;REN66794;REN66795;REN66796;REN66797;REN66798;REN66799;REN66800;REN66801;REN66802;REN66803;REN66804;REN66805;REN66806;REN66807;REN66808;REN66809;REN66810;REN66811;REN66812;REN66813;REN66814;REN66815;REN66816;REN66817;REN66818;REN66819;REN66820;REN66821;REN66822;REN66823;REN66824;REN66825;REN66826;REN66827;REN66828;REN66829;REN66830;REN66831;REN66832;REN66833;REN66834;REN66835;REN66836;REN66837;REN66838;REN66839;REN66840;RH11008;RH69535;RH91504;stSG597962;stSG597964;stSG597965;stSG597966;stSG597967;stSG597968;stSG597969;stSG597970;stSG597971;stSG597972;stSG597973;stSG597974;stSG597975;stSG597976;stSG597977;stSG597978;stSG597979;stSG597980;stSG597981;stSG597982;stSG597983;stSG597984;stSG597985;stSG597986;stSG597987;stSG597988;stSG597989;stSG597990;stSG597991 BSCL3;CAV;CGL3;MSTP085;PPH3;VIP21 OTTHUMP00000025031;OTTHUMP00000195988;OTTHUMP00000195989;OTTHUMP00000196475;OTTHUMP00000198308;caveolin-1;cell growth-inhibiting protein 32 APPROVED protein-coding ENSG00000105974 1527 03028 601047;612526;615343 REVIEWED 1321764 CBLL1 Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011] 7 7 7 q22.3 102191387 102209180 + 107171822 107187265 + 107384279 107402083 + 737633;6480464 12477932 16344560;15342556;15146197;15009096;14996930;12853948;11944035;11836526;16336960;19535458;20379614;20608937;21191016;21685945;21283129;22252131;19711372;22715382;15161933;18057010;23285092 79872 B4DDV7;B7ZM03;C9J2P9;C9K074;F8WEM5;Q75N03 AACC02000004;ABBA01057904;AC002467;AK026762;AK293352;AK307992;AMYH01017831;BC027460;BC130529;BC130531;BC144176;BP201841;BP280978;BX348716;CH236947;CH471070;CN274642;CN291556;DB174309;NM_024814;NR_024199 AAH27460;AAI30530;AAI30532;AAI44177;AAS07390;ADR83027;BAB15544;BAG56868;EAW83416;EAW83417;NP_079090;Q75N03 Hs.592271 2114190;2143913 D7S756;STS-N34389 FLJ23109;HAKAI;MGC163401;MGC163403;RNF188 Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1;Casitas B-lineage lymphoma-like;E-cadherin binding protein E7;E3 ubiquitin-protein ligase Hakai;OTTHUMP00000206719;OTTHUMP00000206720;OTTHUMP00000206722;OTTHUMP00000206724;RING finger protein 188;c-Cbl-like protein 1;casitas B-lineage lymphoma-transforming sequence-like protein 1 APPROVED protein-coding 21225 07590 606872 VALIDATED 1343800 CBLN3 cerebellin 3 precursor Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypical collagen complexes. However, precerebellins do not contain a collagen motif, suggesting that they are not conventional components of the extracellular matrix (Pang et al., 2000 [PubMed 10964938]).[supplied by OMIM, Aug 2009] 14 14 14 q12 4760374 4763367 - 23965578 23968571 - 24895738 24898731 - 6480464 17030622;15340161;12975309;10964938;20686565 643866 G3V2Y8;Q6UW01 ABBA01061345;AL132800;AMYH01005612;AY359070;CD368047;NM_001039771 AAQ89429;NP_001034860;Q6UW01 Hs.207603 1777306;2186765 RH11211;WI-18521 PRO1486 OTTHUMP00000245805;cerebellin-3 APPROVED protein-coding ENSG00000139899 20146 612978 VALIDATED 1345184 CBL Cbl proto-oncogene, E3 ubiquitin protein ligase This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Mar 2012] 11 11 q23.3 118582200 118684069 + 119076986 119178859 + 1580863;2299174;2317988;6480464;6484113;6907045;7240710 18175071;16829981 11891219;2030914;12218189;12593796;16407834;15465819;8621719;11823423;14505571;10567358;11894095;15475003;15962011;19401194;19387008;19268472;19258424;19201892;9174058;17995934;18519587;9918857;12935897;9223670;11152963;11071869;10907644;9820532;9344843;9092574;12559036;8798643;11331248;10477741;7629518;9846481;11896602;8641358;9234717;7721825;12727845;10540342;8621483;11313921;15735736;15128873;15001553;14738146;14702039;12881521;12815057;12802274;12696071;12522270;12504111;12496371;12486104;12477932;12475393;12435267;12244174;12234920;12177062;12176909;12149655;12135478;12061819;12024036;11997497;11997436;11994282;11964172;11904433;11894096;11847211;11826757;11741956;11713248;11696592;11687594;11494134;11278816;11263968;11239464;11149930;11133830;11067845;11053437;11032556;11024037;11001060;10966114;10635327;10608804;10570290;10531381;19144635;19074904;19002168;18792408;18660489;18632619;18508924;18505781;18374639;18316398;18273061;18235045;18070883;18048363;18045238;17804547;17702744;17675501;17675467;17635922;17620338;17475912;17372230;17237826;17094949;17082185;17003487;16964243;16955467;16735510;16503409;16289966;16246327;16228008;16094384;15951569;15878338;15872089;15824310;15728256;15708858;15635092;15592455;15337528;15273720;15210722;15190072;15159412;15135048;15782196;10514377;10449770;10427990;10374881;10204582;10092522;10078535;10074432;10068674;9989826;9857068;9712732;9675877;9622055;9603468;9590251;9535867;9489702;9447983;9407100;9367879;9200440;9178909;9162067;9108392;8810341;8780698;8702998;8663231;8662998;8635998;8083187;7881408;7657591;7629144;7603564;2013228;1565471;15892963;16356860;17679095;17974561;17971399;10086340;9872323;9461587;20619386;10799548;11157475;11406619;11443118;11777909;119942;12193575;12226085;12618476;12637493;12649282;15031295;15324660;15677445;15958209;16219545;16467851;16729043;16914641;16969069;17141222;17255943;17353186;17486068;17545148;19081591;19167335;19276253;19457607;19546888;19571318;19620960;19635790;19689429;19861161;19892728;19901108;19932172;20008299;20086179;20126411;20130058;20189481;20195608;20357823;20379614;20416077;5668240;7517397;7642581;8063801;82;8695851;8950973;8978305;8995445;9045636;9178769;9233773;9716598;9890970;16751776;16105874;16327786;16397241;16740632;20936779;20595524;15107835;15123609;15282549;15315962;15456872;17709377;20543203;15577829;15668240;15737992;18029348;20880116;21048031;20940296;20525683;20678218;20694012;20622007;20877636;21163258;11742985;21098288;21118980;12593795;12604776;12734385;12839496;20029031;20671051;10347229;10428778;11850825;11983899;20717917;21242968;21372129;15657067;21203488;22623369;22834886;22905207;22315494;22929312;23105109;23153581;23158001;23175185;23376399;11087752;11353765;18034775;21436637;19236749;21346257;21422499;17242169;20237427;21768087;20100865;20696396;21645455;10854852;14627991;21904853;22262855;21494262;21222362;23010802;19155296;22974441;21175263;21596750;19225046;19450681;20124286;18062779;20404156;21570973;21772844;15208330;21995445;22203672;19880507;20038312;20461437;20479273;19341794;19531499;19713535;20675402;21967979;22158968;21464131;10679202;12672817;12771190;12874286;14596919;15090612;15707590;16849543;17306257;19417776;19531213;21712076;21830225;21949687;23127761;22558309;22591401;16636290;16893902;20562913;21706016;22623428;23025505;23290524;23418353;23457600;15837792;22131879;10025673;10372803;10521482;10570266;10629042;10684856;10779765;10826882;10829062;10962563;11030146;11042121;11370743;11418612;11697890;11788601;11944898;12147253;12393469;12527895;12941616;15062086;15094368;15117950;15383614;15536084;16429130;16623714;16923119;17063465;17094785;17182860;17255109;17330819;17395426;17548467;17620296;17880946;17944804;18193084;18539136;19433454;19578043;19823681;19836242;19966856;22072526;22310290;22509030;22588125;22591685;22706086;22833562;7545163;7791764;8626404;8896416;8920860;8941725;8943292;9129019;9130710;9160881;9311917;9408950;9414268;9434624;9756944;9851874;9890943;21988239;22138511;22139419;22262777;22266821;18654987;22467879;23352614;10617633;11262396;11399323;12496419;15556646;17188587;18974118;22493164;7537740;7592693;8626543;8695807;8995243;9119889;9195915;9632690;10620516;10657627;11408594;12803489;14725908;16135792;16600665;18596201;19190244;20011623;22246246;22301280;7782294;8524328;8612729;8649804;8683103;8824292;8900205;9092538;9259313;9416834;9988730;9988765;10358153;10648820;10918571;10967110;12231245;14530346;14604282;15004239;15358160;15736970;16107303;16479008;16906159;16938345;17072306;18271526;18835194;19380743;19915061;20439986;21394196;22394513;22505724;8995358;9242692;9541596;9617486 867 P22681 AA806454;ABBA01039674;ABBA01039675;ABBA01039676;AK092300;AL832396;AMYH01004080;AMYH01004081;AP002956;BC132733;BC136463;BG722940;BX648139;CH471065;DB457271;NG_016808;NM_005188;X57110;X69207 AAI32734;AAI36464;CAA40393;EAW67476;NP_005179;P22681 Hs.504096 1646793;1686062;1699858;1721987;1742619;1768828;1794950;2111350;2143464;2157499;2218344;5014734;5123718;7185531 CBL;CBL_4518;D11S1941E;G15959;G59879;GDB:198117;PMC86017P1;RH103536;RH47875;RH93709;STS-X57110;WI-14589;WI-8978 C-CBL;CBL2;FRA11B;NSLL;RNF55 Cas-Br-M (murine) ecotropic retroviral transforming sequence;E3 ubiquitin-protein ligase CBL;OTTHUMP00000232087;RING finger protein 55;casitas B-lineage lymphoma proto-oncogene;fragile site, folic acid type, rare, fra(11)(q23.3);oncogene CBL2;proto-oncogene c-Cbl;signal transduction protein CBL APPROVED protein-coding ENSG00000110395 1541 01320 165360;600651;613563 REVIEWED 1320589 CBFB core-binding factor, beta subunit The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 q22.1 65620551 65692462 + 67063050 67134961 + 1599543;6480464;7240710 8351518 10856244;12217689;9751756;19179469;19156145;18695000;17571080;17379770;17287858;16767164;16504290;16502584;15585652;15489334;15386419;15138260;12495904;12477932;12434156;12239155;11276260;10958941;10914550;10536006;10404215;9447981;9264408;9191054;8889549;8889548;7622058;7587111;16169070;15243141;9751710;20306249;20607802;17431401;19453261;20195544;20306685;20433876;11742995;20591170;20225274;19603346;14729951;22498736;22012064;22205746;21139048;22190036;22190037;22193545;19322201;22479405;20963938;20195357;21150319;15331439;23160462;23175372;23098073;22053931;22190034;22505724;22725134;23152542 865 H3BSC0;J3KRT0;J3KS23;J3KTD8;Q13951 AA020956;ABBA01025426;ABBA01025427;ABBA01025428;AC009084;AC074143;AF294326;AK290462;AK291834;AK311084;AK311724;AMYH01007745;BC018509;BM679848;BT006862;CH471092;L20298;NG_009281;NM_001755;NM_022845 AAA02868;AAG01553;AAH18509;AAP35508;ABM84645;ABM92175;BAF83151;BAF84523;EAW83066;EAW83067;EAW83068;EAW83069;EAW83070;EAW83071;NP_001746;NP_074036;Q13951 Hs.460988 1644873;2106971;2148180;5017526 CBFB;CBFB_7757;RH67901;RH78908 PEBP2B CBF-beta;OTTHUMP00000174817;PEA2-beta;PEBP2-beta;SL3-3 enhancer factor 1 beta subunit;SL3-3 enhancer factor 1 subunit beta;SL3/AKV core-binding factor beta subunit;core-binding factor subunit beta;polyomavirus enhancer binding protein 2, beta subunit;polyomavirus enhancer-binding protein 2 beta subunit APPROVED protein-coding ENSG00000067955 1539 00418 121360;601626 REVIEWED 1316966 CBLC Cbl proto-oncogene C, E3 ubiquitin protein ligase This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 19 19 q13.2 49972988 49995731 + 45281126 45303903 + 1580863;6480464;6907045 10571044;10086340;10362357;14661060;12024036;15302935;15117950;12711395;12477932;12244174;12234920;12226085;12177062;10737800;9988270;9824625;22888118;20525694;19549727;21988832;23105109;23145173;21900206;22315494;21906983;18753381;22493164 23624 Q9ULV8 AB028645;ABBA01040884;ABBA01040885;AC092066;AF117646;AF117647;AMYH01009842;BC028915;BF835530;CH471126;NM_001130852;NM_012116 AAD34341;AAD34342;AAH28915;ABM82169;ABM85419;BAA86298;EAW57292;EAW57293;NP_001124324;NP_036248;Q9ULV8 Hs.466907 5024161 RH48807 CBL-3;CBL-SL;RNF57 Cas-Br-M (murine) ecotropic retroviral transforming sequence c;Cas-Br-M (murine) ectropic retroviral transforming sequence c;OTTHUMP00000198327;OTTHUMP00000198328;RING finger protein 57;SH3-binding protein CBL-3;SH3-binding protein CBL-C;signal transduction protein CBL-C APPROVED protein-coding ENSG00000142273 15961 09765 608453 REVIEWED 5687877 CBR3-AS1 CBR3 antisense RNA 1 21 37504065 37528606 - 12477932;22264502;9740676 100506428 AB004851;ABBA01057384;AL542398;AMYH01012225;AP000689;BC037580;BC038671;BC047014;BI836686;NR_038892;NR_038893;NR_038894 Hs.651214 1663161;2124073;2154678;5014019;5014740;5015861;5016478;5020948;5022578;5022651;5037552;5093108;7185938 A009G10;D10S16;D11S2921;D17S610;D1S1423;D5S2354;D8S2279;G32524;G35510;GDB:434012;SHGC-87614;SHGC-87616 PlncRNA-1 APPROVED miscrna ENSG00000236830 43664 VALIDATED 1348062 CBLN1 cerebellin 1 precursor This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008] 16 16 16 q12.1 33823798 33827712 - 47870196 47873193 - 49311828 49315742 - 1580863;6480464 1704129;15489334;12477932;10688962;10022429;7877445;2760624;10964938;15146197;17030622;20200953;22117778 869 H3BQD0;P23435 ABBA01000896;AC007614;AI147523;AK314276;AMYH01007653;BC093692;BC093718;CH471092;CN281334;M58583;NM_004352;R50764 AAA35676;AAH93692;AAH93718;BAG36936;EAW82731;NP_004343;P23435 Hs.458423 1649859;1658512;1663922;1774671;2107915;2165697;2171051;5492296 CBLN1_8243;Cbln1;D16S2661;D16S2966;G15895;RH69147;SHGC-60729;SHGC-60807 OTTHUMP00000164195;cerebellin-1;precerebellin APPROVED protein-coding ENSG00000102924 1543 02697 600432 VALIDATED 1320203 CBLN2 cerebellin 2 precursor 18 18 18 q22.3 67055763 67063568 - 68354895 68362542 - 70203915 70211723 - 6480464 22569225;19010793;15489334;14702039;12975309;12477932;7877445;17030622;22117778;23502781 147381 J3KST0;J3QS23;Q8IUK8 ABBA01056307;AC011208;AK125422;AK291364;AMYH01009091;AY359074;BC035789;BC110843;BX409761;CH471117;CS208023;HB867208;NM_182511 AAH35789;AAQ89433;BAF84053;CAJ44937;CBF57590;EAW66527;EAW66528;EAW66529;NP_872317;Q8IUK8 Hs.569851 1646599;2181476 D18S1269;RH15985 OTTHUMP00000163726;cerebellin-2 protein-coding ENSG00000141668 1544 15970 600433 VALIDATED 733798 CBLB Cbl proto-oncogene B, E3 ubiquitin protein ligase 3 3 q13.11 106859799 107070577 - 105377109 105587887 - 625457;1580863;2314039;2314040;2314037;2314038;2306289;2314041;6480464;6907045 12118252;17209142;15629882;18201552;17601987;16984225;14961073 7784085;18316398;17475912;17235393;17081983;16868939;16525057;16503409;16459459;16189514;15922296;15489334;15315962;15273720;15231748;14702039;14604964;12935897;12907674;12880961;12771181;12697763;12477932;12218189;12177062;12093870;11857085;11826757;11406619;11375397;11087752;11053437;10086340;10074432;10022120;9614102;9399639;8889548;16729043;11526404;21453975;16734387;20936779;12577067;19506219;19546888;19834503;20237496;20395198;20400514;20453840;18029348;21037273;16702950;21248249;23145173;21346257;21558139;21645455;10635327;21768087;21807564;19531499;21900206;19815501;19880507;20038312;12874286;16228008;17020880;17255943;19531213;20467438;21706016;23280105;22158902;16002993;20639876;17330819;18539136;17878343;18596201;19190244;19285159;22447040;22884570;22194214;23039885;16007098;18271526;19380743;19915061;22505724 868 B3KSS7;B5MC15;C9JRB3;C9JU85;E7ENW2;E9PHA9;F5H4J9;Q13191;Q68CY2 AA251219;AB075490;ABBA01061727;ABBA01061728;AC016138;AC112485;AC126185;AK094184;AK123147;AK130668;AK292792;AK302533;AK302892;AK316276;AMYH01013372;BC032851;BC065915;BQ188745;BX537484;BX649066;CH471052;CR749655;DQ349203;DQ349204;NM_170662;R78694;U26710;U26711;U26712 AAB09291;AAB09292;AAB09293;AAH32851;ABC86700;ABC86701;ABM85378;ABW03717;BAE45748;BAF85481;BAG52839;BAG53874;BAG63805;BAG64066;BAH14647;CAH18449;CAH56175;EAW79751;EAW79752;EAW79753;EAW79754;NP_733762;Q13191 Hs.430589 1646100;1649466;1730379;1747791;2107913;2129900;2145362;2147674;2169339;2178288;7187048 1232;A003P06;CBLB_8242;D3S1333E;D3S3959;D3S4235;G66779;SHGC-35478;SHGC-77171;SHGC-77174 Cbl-b;DKFZp686J10223;DKFZp779A0729;DKFZp779F1443;FLJ36865;FLJ41152;Nbla00127;RNF56 Cas-Br-M (murine) ecotropic retroviral transforming sequence b;Cas-Br-M (murine) ectropic retroviral transforming sequence b;E3 ubiquitin-protein ligase CBL-B;OTTHUMP00000198145;OTTHUMP00000198146;OTTHUMP00000198147;RING finger protein 56;SH3-binding protein CBL-B;casitas B-lineage lymphoma proto-oncogene b;signal transduction protein CBL-B APPROVED protein-coding ENSG00000114423 1542 05136 604491 VALIDATED 1346675 CBLN4 cerebellin 4 precursor This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorectal cancer receptor. [provided by RefSeq, Aug 2012] 20 20 20 q13 51311804 51319320 - 54005903 54013419 - 54572413 54580528 - 6480464 15489334;15340161;12975309;12477932;11780052;17030622;17207965;16344560;17331201;18278437;19212655;21356198;21410790;22191730;22220752 140689 Q9NTU7 ABBA01052888;AK289640;AL117383;AMYH01012004;AY358527;BC047076;BC050026;BC069402;BC069488;BC069516;CD244520;CH471077;DA137489;DA391781;NM_080617 AAH50026;AAH69402;AAH69488;AAH69516;AAQ88891;ADQ32927;BAF82329;EAW75567;NP_542184;Q9NTU7 Hs.126141;Hs.741877 2218342 CBLNL1_4519 CBLNL1 OTTHUMP00000031325;cerebellin precursor-like 1;cerebellin-4;cerebellin-like glycoprotein 1 APPROVED protein-coding ENSG00000054803 16231 16685 615029 REVIEWED 1320224 CBR3 carbonyl reductase 3 Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols. The enzyme is classified as a monomeric NADPH-dependent oxidoreductase. CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008] 21 21 q22.2 36429133 36440730 + 37507263 37518860 + 1580863;2316291;6480464;6907045 19088887 9740676;19027726;19016765;18676680;18551042;18493841;18457324;15537833;15489334;12477932;11592776;10830953;9503011;8125298;7705364;16169070;10728668;21145461;18029348;20734064;19170196;19590938;19615732;19625176;19671875;19692168;19841672;20806931;23314748;21256830;20494980;22360420;22425771;22001310;22527884;21890473;22124095;23182048;22504420;21853274 874 O75828;Q53F60 AB003151;AB004850;AB004854;AB041012;AB124847;ABBA01057384;AJ000096;AK223429;AMYH01012225;AP000689;AP001725;BC002812;CH471079;CR541709;EF462915;NM_001236 AAH02812;ABO43035;ADZ15887;BAA33500;BAA34207;BAA89425;BAA95547;BAD74062;BAD97149;BAE45939;CAA03921;CAG46510;EAX09747;NP_001227;O75828 Hs.154510 2154678 SHGC-87616 SDR21C2;hCBR3 NADPH-dependent carbonyl reductase 3;OTTHUMP00000109012;carbonyl reductase (NADPH) 3;carbonyl reductase [NADPH] 3;short chain dehydrogenase/reductase family 21C, member 2 APPROVED protein-coding ENSG00000159231 1549 07222 603608 REVIEWED 737546 CBR1 carbonyl reductase 1 Carbonyl reductase is one of several monomeric, NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds. This enzyme is widely distributed in human tissues. Another carbonyl reductase gene, CRB3, lies close to this gene on chromosome 21q. [provided by RefSeq, Jul 2008] 21 21 q22.13 36364155 36367332 + 37442285 37445462 + 1580863;1300048;2302233;6480464;6907045 18452227 9740676;17353931;19027726;19022938;19016765;18826943;18676680;18551042;18493841;17697149;17569794;17344335;15489334;12836057;12477932;12123751;11771743;11306092;10830953;10091578;8432528;8421682;7705364;7005231;3311025;3141401;3083821;2182121;1921984;1540623;1453004;16169070;18449627;19170196;19204081;19625176;19692168;19841672;20471030;21145461;20029029;20562859;21256830;23247010;23295225;19135240;19442656;22542806;20972266;21139048;21890473;21906983;22178446;22360420;21320693;22234250;22145905;22124095;22562609;23133646;23314748;21853274 873 A8MTM1;B4DFK7;E9PQ63;P16152 AB003151;AB124848;ABBA01057382;AK294142;AK308691;AK311219;AK314879;AL548852;AMYH01012223;AP000688;AP001724;BC002511;BC015640;BT019843;CH471079;CR541708;EF141836;J04056;M62420;NM_001757 AAA17881;AAA52070;AAH02511;AAH15640;AAV38646;ABK97430;ABM83279;ABM86485;BAA33498;BAA95508;BAE45940;BAG37394;BAG57468;CAG46509;EAX09752;EAX09753;EAX09754;EAX09755;NP_001748;P16152 Hs.88778 1683084;1741803;1797350;2148329;2164298 CBR1_1984;GDB:185176;RH17586;RH91556;SHGC-52102 CBR;SDR21C1;hCBR1 15-hydroxyprostaglandin dehydrogenase;NADPH-dependent carbonyl reductase 1;OTTHUMP00000109013;carbonyl reductase (NADPH) 1;carbonyl reductase [NADPH] 1;prostaglandin 9-ketoreductase;prostaglandin-E(2) 9-reductase;short chain dehydrogenase/reductase family 21C, member 1 APPROVED protein-coding ENSG00000159228 1548 00267 114830 REVIEWED 1346367 CBWD4P COBW domain containing 4 pseudogene 9 q13 70181086 70214885 - 12421752 445572;653510 AL512605;NG_027949 pseudo 18520 INFERRED 1602997 CBR4 carbonyl reductase 4 4 4 4 q32.3 167240084 167262804 - 170145316 170167997 - 169908741 169931468 - 6480464 19027726;19000905;14702039;12477932;20877624;17207965;16344560;19571038;21890473;19322201 84869 D6RAV8;D6RGF2;D6RJF4;H0Y962;Q8N4T8 ABBA01070334;ABBA01070335;AC021151;AK027337;AK291756;AL049442;AL833393;AMYH01014699;AV704400;BC021973;BC033650;BG119539;BQ230058;CH471056;DA217727;HB874579;HC931988;NM_032783;W70279 AAH21973;AAH33650;ADQ31575;BAB55045;BAF84445;CAH10582;CBF61666;CBU86558;EAX04797;EAX04798;NP_116172;Q8N4T8 Hs.659311 1701298;1714531;2142789;2145811;5094862 CBR4;D4S998;RH104278;RH119778;SHGC4-1617 FLJ14431;SDR45C1 3-oxoacyl-[acyl-carrier-protein] reductase;OTTHUMP00000219586;OTTHUMP00000219599;OTTHUMP00000219638;carbonic reductase 4;carbonyl reductase family member 4;quinone reductase CBR4;short chain dehydrogenase/reductase family 45C, member 1 protein-coding ENSG00000145439 25891 07859 VALIDATED 1352030 CBWD2 COBW domain containing 2 2 2 q13 113911853 113970216 + 114195268 114253781 + 6480464 19615732;21145461;17353931;16344560;15233989;12477932;12421752;8125298;16169070;21906983;22505724 150472 C9J3G2;F8WEG4;F8WEU0;F8WFD0;Q8IUF1 AC016745;AF452722;AK124867;AK225251;AK290072;AK303653;AL078621;AMYH01010967;AY343910;BC120991;BC120992;DA296279;HH771664;NM_172003 AAI20992;AAI20993;AAN64907;AAQ76868;BAC85973;BAF82761;BAH14006;CBX86534;NP_742000;Q8IUF1 Hs.531330 5016775;5113384;5121664;5124325;5124454;5124593 G19715;RH64865;RH65287;RH66853;RH68216;RH68370 COBW domain-containing protein 2;OTTHUMP00000162049;cobalamin synthase W domain-containing protein 2;cobalamin synthetase W domain-containing protein 2 protein-coding ENSG00000136682 17907 16687 611079 VALIDATED 1343748 CBWD3 COBW domain containing 3 9 9 q13 70046659 70104752 + 70856839 70914932 + 16341674;15233989;12477932;12421752;21890473;21906983;22505724 445571 B4DNG9;Q5JTY0;Q5JTY1;Q5JTY2;Q5JTY5;Q5RIB1;Q5RIB2;Q6VB91;R4GN30 AK297912;AL353608;AMYH01021349;AY344633;BM786305;BU622154;FQ976557;HH772028;NM_201453 AAI72342;AAQ76870;BAG60231;CBX86716;NP_958861;Q5JTY5 Hs.645337 5016775;5113384;5121664;5124454 G19715;RH65287;RH66853;RH68216 FLJ60409;bA561O23.1 COBW domain-containing protein 3;OTTHUMP00000021409;OTTHUMP00000021410;cobalamin synthase W domain-containing protein 3;cobalamin synthetase W domain-containing protein 3 protein-coding 18519 611080 VALIDATED 1625817 CBWD7 COBW domain containing 7 9 9 p12 42658218 42705357 + 42670994 42714961 + 14702039;9847074;21906983 728013 A6NM15;E9PFE9;H0Y5V3;H0Y601 AC129778;XM_001717050 A6NM15;XP_001717102 5016775;5113384;5121664;5124454 G19715;RH65287;RH66853;RH68216 FLJ40320 COBW domain containing 7;OTTHUMP00000070163;OTTHUMP00000070164;OTTHUMP00000070165;putative COBW domain-containing protein 7;putative cobalamin synthase W domain-containing protein 7 protein-coding ENSG00000215126 31977 MODEL 4107204 CBX1P2 chromobox homolog 1 pseudogene 2 X X p22 21237119 21239259 - 17116503 17118641 - 100147811 ABBA01071511;AL732371;AMYH01022117;NG_007618;NG_012557 pseudo 38656 INFERRED 1348830 CBWD1 COBW domain containing 1 9 9 p24.3 111038 169075 - 121038 179075 - 6480464 17353931;15489334;15233989;15164053;12477932;12421752;11489251;10931946;10867487;17207965;21906983;22505724;22797925 55871 C9JGY1;F2Z2T4;F2Z3H7;Q7Z652 AF212253;AF257330;AK290648;AK297292;AK315855;AL356244;AL449043;AMYH01019173;AY295766;AY320414;AY343911;BC005996;BC009573;BC013432;BC037212;BC132759;BU621970;HH772046;HH772086;HH772092;NM_001145355;NM_001145356;NM_018491 AAF68990;AAH05996;AAH09573;AAH13432;AAI32760;AAK14935;AAP73813;AAQ76869;ADQ32099;ADR83148;ADZ15344;BAF83337;BAF98746;BAH12539;CBX86725;CBX86745;CBX86748;NP_001138827;NP_001138828;NP_060961;Q9BRT8 Hs.531330;Hs.567539;Hs.645337 5016775;5113384;5121664;5124454 G19715;RH65287;RH66853;RH68216 COBP COBP;COBW domain-containing protein 1;COBW-like protein;NPC-A-6 COBW domain-containing protein 1;OTTHUMP00000020950;OTTHUMP00000020951;OTTHUMP00000020953;cobalamin synthase W domain-containing protein 1;cobalamin synthetase W domain-containing protein 1 protein-coding ENSG00000172785 17134 16686 611078 VALIDATED 4107271 CBX1P1 chromobox homolog 1 pseudogene 1 X X X q11.1 62864393 62866606 - 62434732 62482994 - 62517551 62519764 - 645251 ABBA01066772;AC234780;AL158203;AL365179;AMYH01022491;NG_007614 1689402;1787338 RH93265;SHGC-154811 pseudo 38655 INFERRED 4107291 CBX1P3 chromobox homolog 1 pseudogene 3 1 1 1 q32.1 177058891 177062522 + 202190295 202191531 + 203923526 203927157 + 100128723 ABBA01027462;AC096645;AMYH01001660;NG_007647 pseudo 38657 INFERRED 4107194 CBX1P4 chromobox homolog 1 pseudogene 4 X X X p22.13 21421293 21423494 + 17210589 17211205 + 17300474 17302675 + 100130461 ABBA01071528;ABBA01071529;AL845433;AMYH01022117;NG_007646 pseudo 38658 INFERRED 1348208 CBX1P5 chromobox homolog 1 pseudogene 5 3 3 q26.1 168010328 168012070 + 166528617 166530530 + 100133259 ABBA01058738;AC128686;AMYH01013634;NG_007645;XM_210557 CBX9 APPROVED pseudo 21006 INFERRED 1602602 CBWD6 COBW domain containing 6 9 9 q21.11 68494358 68552413 - 69204538 69262593 - 12477932;21906983;22505724 644019 F5H3X4;H0Y6V8;Q4V338;Q4V339;Q4V340;Q4V342;Q5RIB5 AF293368;AK293173;AMYH01021372;AMYH01021373;AMYH01021374;AMYH01021375;AMYH01021376;BC069006;BX255923;CR627025;HH772008;NM_001085457 AAG10070;BAG56717;CBX86706;NP_001078926;Q4V339 Hs.597638;Hs.645337 5016775;5022578;5095470;5113384;5121664;5124450;5124454 D1S1423;G19715;RH119736;RH12706;RH65287;RH66853;RH68216 DKFZp686L07117;FLJ60409 COBW domain-containing protein 6;OTTHUMP00000069725;OTTHUMP00000069835;cobalamin synthase W domain-containing protein 6;cobalamin synthetase W domain-containing protein 6 protein-coding ENSG00000204790 31978 VALIDATED 2291773 CBX3P1 chromobox homolog 3 pseudogene 1 11 11 11 p14.1 27973976 27976174 + 27784093 27785428 + 27827864 27830105 + 10763413 159770 ABBA01060966;AC103796;AF063304;AMYH01003457;NG_001315 pseudo 33950 INFERRED 5490501 CBX3P3 chromobox homolog 3 pseudogene 3 5 112113340 112113886 - 100421861 ABBA01069053;AC136500;AMYH01015547;NG_024619 pseudo 42875 INFERRED 6481556 CBX3P4 chromobox homolog 3 pseudogene 4 12 2896458 2896748 - 100873792 ABBA01048801;AC005841;AMYH01004181;NG_032536 pseudo 42876 INFERRED 5490499 CBX3P5 chromobox homolog 3 pseudogene 5 12 95680096 95680614 - 100421943 ABBA01053339;AC084879;AMYH01004667;NG_024039;NG_028987 pseudo 42877 INFERRED 5490505 CBX3P6 chromobox homolog 3 pseudogene 6 2 2 q24.1 155505266 155505793 - 155797053 155797579 - 642721 ABBA01004821;AC093112;AMYH01011186;NG_021530 pseudo 42878 INFERRED 5490502 CBX3P8 chromobox homolog 3 pseudogene 8 11 p11.12 49427742 49428266 + 100286965 ABBA01060667;AC135977;AMYH01003570;NG_021817 1847356;2119613;2218128 D11S3987;RH69108;TYR_3880 pseudo 42880 INFERRED 737316 CBS cystathionine-beta-synthase The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010] 21 21 q22.3 43346370 43369490 - 44473301 44496472 - 1600622;1600624;1600626;1600627;1359024;1580863;1300048;6480464;6907045;7240710;7242427 7506602;16636197;12855221;12649066;9359866;20162368 21273695;19064578;19048631;19019492;19019335;19010420;18992148;18988749;18977990;18977241;18950795;18936436;18839533;18830263;18818748;18799873;18792976;18785313;18708589;18676680;18636124;18635682;18622257;18620331;18614746;18454451;18447718;18427977;18398434;18278872;18203168;18060852;17993766;17956124;17891500;17726616;17686644;17621169;17601350;17553479;17548676;17540596;17436311;17352495;17327360;17319270;17311260;17311259;17160942;17119116;17087506;17035141;16953589;16941496;16792904;16791140;16709328;16601865;16541333;16505479;16479318;16470595;16422253;16375773;16363792;16328059;16274669;16259797;16205833;16189514;16115349;16013960;9590298;16780588;18029348;19527514;19493349;19429038;19424622;19370759;19267073;19238444;19166826;19161160;19112534;19074437;16007597;15975077;15972722;15922487;15889417;15772012;15755387;15748616;15719048;15554031;15544339;15520012;15503105;15489334;15365998;15354395;15228193;15082224;15009965;14977639;14670973;12889841;12815602;12725044;12642343;12529702;12477932;12439143;12427542;12413583;12393509;12379655;12269827;12228232;12186157;12180146;12173932;12154064;12124992;12082592;12020105;12015064;12007221;11872884;11758232;11748855;11672761;11575217;11528503;11483494;11457468;11434706;11359462;11359213;11341749;11310576;11292330;11204591;11173483;11149614;11074524;11013450;10830953;10791559;10462600;10434301;10408774;10338090;10215408;9889017;9790750;9466992;9383285;9361025;9266356;9156316;8990018;8803779;8755636;8528202;8353501;8022826;7981678;7967489;7903580;7849717;7762555;7635485;7611293;7598711;7564249;2894761;1301198;840498;681363;404147;19019082;22470444;18776696;19170196;19447967;19531479;19559392;19593657;19625176;19657138;19657388;19683694;19692168;19722721;19729796;19737740;19906435;19948975;20031554;20031578;20056620;20066033;20082058;20160465;20217437;20237949;20308073;20346360;20379614;20453000;20458436;7929220;20670920;20638879;20140262;20717043;20737570;20883119;20890573;20939734;20948192;21045269;21055808;20506325;20601281;19913121;20544798;20559280;20565774;20615890;20628086;20634891;20707729;20718043;21062078;20301697;22977242;21104445;20490928;22863883;22985361;22069143;16196087;21520339;21564312;21417705;21957013;21626167;18781797;21886822;21900206;22002135;22118674;21139048;21890473;22484094;22612060;22236648;22333527;22353391;22891245;22253703;21917271;22310774;23117410;23143240;23152928;21319273;23124209;21517828;23718855;23002992;21988832;22512572;23251661;22738154;22665368 875 C9JMA6;F5H2U1;H7C1W6;H7C2H4;H7C2W0;P35520;Q9NTF0 ABBA01004516;ABBA01004517;AF042836;AK294608;AK301063;AK313691;AL137314;AL531222;AMYH01012275;AP001630;BC000440;BC007257;BC010242;BC011381;BC012319;BT007154;CH471079;CQ779398;DC300040;DQ191754;HB891684;HB906392;HB908636;HB919838;HB928571;HB944969;HC949093;HC963801;HC966045;HC977247;HC985980;HD002379;L00972;L14577;L19501;NG_008938;NM_000071;NM_001178008;NM_001178009;X82166;X88562 AAA19874;AAA98524;AAC64683;AAC64684;AAH00440;AAH07257;AAH10242;AAH11381;AAH12319;AAP35818;ABA28318;ABM81955;ABM85134;BAG36440;BAH11822;BAH13401;CAA57656;CAA61252;CAB70691;CAG14912;CBF70474;CBF85738;CBF88264;CBF94917;CBF99203;CBG07230;CBU94756;CBV01862;CBV02957;CBV08437;CBV12723;CBV20752;EAX09507;EAX09508;EAX09509;EAX09510;EAX09511;EAX09512;EAX09513;EAX09514;EAX09515;NP_000062;NP_001171479;NP_001171480;P35520 Hs.533013 1730213;1741799;1742131;2147103;2170314;7186603 D21S271E;GDB:185174;GDB:192314;RH78946;SGC35805 HIP4 OTTHUMP00000109415;OTTHUMP00000109416;OTTHUMP00000109417;OTTHUMP00000109418;beta-thionase;cystathionine beta synthase;cystathionine beta-synthase;methylcysteine synthase;serine sulfhydrase APPROVED protein-coding ENSG00000160200 1550 01994 236200;613381 REVIEWED 5490490 CBX3P7 chromobox homolog 3 pseudogene 7 11 89026912 89027414 - 100421975 ABBA01011523;AMYH01003868;AP000720;NG_024399 1847356;2119613;2190379;7188805 D11S3987;D11S870-D11S1326;RH69108 pseudo 42879 INFERRED 5490504 CBX3P9 chromobox homolog 3 pseudogene 9 6 6 q22.1 116880521 116881515 - 116774180 116774728 - 644101 ABBA01026046;AMYH01016617;NG_022324;Z84488 pseudo 42881 INFERRED 1601812 CBWD5 COBW domain containing 5 9 9 q21.11 69671824 69729991 - 70432004 70490171 - 16344560;14702039;12477932;12421752;10867487;8889548;16169070;21906983;22505724 220869 B4DNG9;E7EUZ7;E9PG27;F2Z3P0;H0Y857;Q5RIA9;Q5RIB0;Q5RIB3;Q5RIB5;Q6NVZ8 AF065414;AF265442;AK092175;AK097639;AK292585;AMYH01021233;AMYH01021234;AMYH01021235;AMYH01021236;AMYH01021237;AMYH01021238;AMYH01021239;AMYH01021240;AMYH01021241;BC043420;BC067803;BC082271;BC141856;BM711778;BX284632;DA288994;DB463072;NM_001024916 AAC17121;AAG44700;AAH43420;AAH67803;AAI41857;BAF85274;NP_001020087;Q5RIA9 Hs.355950;Hs.635227;Hs.645337;Hs.645504 5016775;5113384;5121664;5124450;5124454 G19715;RH12706;RH65287;RH66853;RH68216 DC36;FLJ34856;FLJ40320;FLJ77192;MGC167043;MGC44166 COBW domain-containing protein 5;COBW-like placental protein;OTTHUMP00000015371;OTTHUMP00000015372;OTTHUMP00000215652;OTTHUMP00000215655;cobalamin synthase W domain-containing protein 5;cobalamin synthetase W domain-containing protein 5;dopamine responsive protein protein-coding ENSG00000147996 24584 14134 VALIDATED 4107152 CBX5P1 chromobox homolog 5 pseudogene 1 3 3 p11.1 88898633 88899355 - 88144432 88145154 - 100151661 ABBA01004633;AC119733;AMYH01013325;NG_007668 pseudo 38659 INFERRED 5490471 CBX3P2 chromobox homolog 3 pseudogene 2 18 p11.32 2652169 2655394 - 12477932 645158 Q8WVE2 ABBA01049833;AMYH01008776;AP005061;BC018088;BX328992;NG_031972;NR_033754 AAH18088 Hs.712861;Hs.741607 pseudo ENSG00000266405 42874 VALIDATED 1342823 CBX2 chromobox homolog 2 This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010] 17 17 q25.3 75366588 75375974 + 77751977 77761449 + 1580863;6480464;7240710 19107218;16189514;15146197;12477932;10369680;9641679;7782071;2477932;1352241;22325352;1898775;19060904;2903050;3081265;19361780;19636380;12167701;21282530;23219007;23667531;21047797;21383063;22009739;22419124;22632162 84733 Q14781 ABBA01013830;AC105337;AL157459;AMYH01008684;BC004252;BC119759;BC119760;BX110913;CH471099;CN367085;CN367087;CN367098;CV815254;DB452048;NG_016986;NM_005189;NM_032647;X77824;X77825 AAH04252;AAI19760;AAI19761;AAI56119;AAI57075;ABZ92071;CAA54839;EAW89568;EAW89569;NP_005180;NP_116036;Q14781 Hs.368410 1668021;1683385;1749321;1771246;2110557 MGC10561__7656;RH47739;RH66799;RH93970;SHGC-111083 CDCA6;M33;MGC10561;SRXY5 M33 polycomb-like;Pc class homolog;cell division cycle associated 6;chromobox homolog 2 (Pc class homolog, Drosophila);chromobox protein homolog 2;modifier 3 APPROVED protein-coding ENSG00000173894 1552 14397 602770;613080 REVIEWED 1321782 CBX1 chromobox homolog 1 This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 17 17 q21.32 43502420 43533360 - 46147414 46178883 - 6480464 17314413;9169582;11101528;18599480;18590578;18438399;18239689;17575412;17081983;16615912;16547356;16344560;16169070;16127177;15947784;15899859;15635413;15489334;14651845;14585993;12867029;12711675;12560555;12560554;12477932;12414990;12054505;11959914;11882902;11790298;11336697;11242054;11242053;10882726;10747027;10562550;10549285;10460410;10202156;9454751;8287692;12111331;15120635;11793364;21281799;10330177;19486527;19615732;20195544;9636146;20308360;20498703;19661379;19706462;19759913;20935630;15100215;15136563;15145825;15960974;17403666;17962312;16622419;20562864;20682794;21888893;22815475;20923784;20360068;21047797;22178446;23287531;22234250;20231385;21139048;21693764;21890473;21906983;22318730;22606318;22615490;22617335;15200951;20195357;21988832;22949513;23000965;23077635;22505724;22715096 10951 B5MD17;C9JWS9;J3KS05;K7ELA4;P83916;Q6IBN6 ABBA01041153;ABBA01041154;ABBA01041155;AC004477;AC006468;AF106801;AK312615;AMYH01008451;AMYH01008452;BC002609;BC021302;CB053834;CH471109;CR456766;DA020204;DA689514;DA781730;DB026977;NM_001127228;NM_006807;U35451 AAB81548;AAD21972;AAH02609;AAH21302;ABZ92300;BAG35502;CAG33047;EAW94758;EAW94759;EAW94760;EAW94761;NP_001120700;NP_006798;P83916 Hs.77254 2109113 CBX1_9202 CBX;HP1-BETA;HP1Hs-beta;HP1Hsbeta;M31;MOD1;p25beta HP1 beta;HP1 beta homolog;OTTHUMP00000197313;OTTHUMP00000197314;OTTHUMP00000197315;OTTHUMP00000197316;chromobox homolog 1 (HP1 beta homolog Drosophila );chromobox protein homolog 1;heterochromatin protein 1 homolog beta;heterochromatin protein 1-beta;heterochromatin protein p25 beta;modifier 1 protein APPROVED protein-coding ENSG00000108468 1551 05149 604511 REVIEWED 1348844 CBX4 chromobox homolog 4 17 17 q25.3 75421550 75427808 - 77806955 77813213 - 1580863;6480464 9315667;9367786;18567530;18178578;18029348;17081983;17018294;16061479;15710417;15592428;15489334;12679040;12477932;12167701;12101246;11583618;9858600;9858531;9199346;12829790;16169070;14638676;15563468;17439403;21256122;21282530;15231748;17087506;17428788;18453536;19933700;19336002;19454010;19636380;20351170;21549310;21252943;12700765;20361981;21885019;22078878;22325352;16009940;18781797;21288202;19471022;21693764;21906983;22028491;18408014;21145359;22467880;22825850;22889411;22897849;15175327;22797925 8535 F8WCW6;I3L4F1;O00257 ABBA01013826;ABBA01013827;ABBA01013828;AC100791;AF013956;AI796748;AMYH01008687;AMYH01008688;AY390430;BC014967;BG029608;BQ225831;CH471099;EU439707;NM_003655;U94344 AAB62734;AAB80718;AAH14967;AAQ97596;ACA49234;EAW89572;EAW89573;NP_003646;O00257 Hs.743401 1658988 RH78479 NBP16;PC2;hPC2 E3 SUMO-protein ligase CBX4;NS5ATP1-binding protein 16;OTTHUMP00000197308;OTTHUMP00000197309;Pc class 2 homolog;chromobox homolog 4 (Pc class homolog, Drosophila);chromobox protein homolog 4;polycomb 2 homolog APPROVED protein-coding ENSG00000141582 1554 04357 603079 VALIDATED 1605449 CBY3 chibby homolog 3 (Drosophila) 5 5 5 q35.3 174729963 174732379 - 179038183 179040575 - 179105559 179107975 - 6480464 15372022 646019 A6NI87 ABBA01010031;AC136604;AMYH01015957;BX110582;NM_001164444 A6NI87;NP_001157916 Hs.535767 1656257 STS-H08168 OTTHUMP00000223233;protein chibby homolog 3 protein-coding ENSG00000204659 33278 VALIDATED 1352044 CBX3 chromobox homolog 3 At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This protein also can bind lamin B receptor, an integral membrane protein found in the inner nuclear membrane. The dual binding functions of the encoded protein may explain the association of heterochromatin with the inner nuclear membrane. This protein binds histone H3 tails methylated at Lys-9 sites. This protein is also recruited to sites of ultraviolet-induced DNA damage and double-strand breaks. Two transcript variants encoding the same protein but differing in the 5' UTR, have been found for this gene.[provided by RefSeq, Mar 2011] 7 7 p15.2 26207624 26219501 + 26240831 26253227 + 1580863;6480464 9636147;8663349;11101528;11124534;18618731;18239689;18172013;18032920;17575412;17381543;17245432;17081983;16964243;16954381;16945326;16713569;16127177;16083285;15635413;15502821;15489334;15322135;15009096;12690205;12560555;12485163;12477932;12054505;12004135;11959914;11336697;11242053;10664448;10562550;10460410;10330177;9864353;9636146;9454751;9169472;12414990;15120635;11793364;21145461;21252314;17314413;15306854;20176155;19144645;20675861;20936779;17468742;17540172;18029348;19486527;19615732;21888893;22684280;17403666;17962312;21358630;15882967;16061184;16159877;19661379;19690169;19759913;15136563;15145825;21220418;20562864;22863883;22939629;22990118;21865325;14578449;20360068;20695923;21047797;20011120;20923784;21784059;21875947;19471022;20231385;21907836;15200951;18160415;19738201;23000965;23077635;23287531;23829974;19322201;22234250;18781797;21596310;22178446;21139048;21549307;21890473;21906983;21963094;22318730;22325352;22514736;22586326;22615490;22505724;22870217 11335 A4D177;B8ZZ43;C9JMM0;Q13185 AACC02000007;AB030905;ABBA01056745;AC010677;AF136630;AL542267;AMYH01017126;AMYH01017127;BC000954;BC014380;BX647444;BX648807;CD514780;CH236948;CH471073;CV575477;DB565723;NM_007276;NM_016587;U26312 AAB48101;AAF62370;AAH00954;AAH14380;ACE86685;ACE87369;BAA83340;EAL24235;EAW93842;EAW93843;EAW93844;EAW93845;EAW93846;NP_009207;NP_057671;Q13185 Hs.381189 1696692;1735656;1857592;2170890;2184022;5124411 D7S2103E;HSC11F052;RH24974;SHGC-57830;SHGC-83036;STS-H78370 HECH;HP1-GAMMA;HP1Hs-gamma HP1 gamma homolog;OTTHUMP00000122519;OTTHUMP00000122520;OTTHUMP00000202463;chromobox homolog 3 (HP1 gamma homolog, Drosophila);chromobox protein homolog 3;heterochromatin protein 1 homolog gamma;heterochromatin protein HP1 gamma;heterochromatin-like protein 1;modifier 2 protein APPROVED protein-coding ENSG00000122565 1553 05130 604477 REVIEWED 1353483 CBX7 chromobox homolog 7 22 22 q13.1 37856723 37878484 - 39526777 39548538 - 1580863;6480464 18984978;18701502;17374722;15897876;15489334;14647293;12477932;10591208;18686603;19706751;20541999;19636380;20542683;20723236;10369680;16537902;21060834;22041561;22226354;21047797;22214847 23492 B0QYP2;B0QYP3;O95931 ABBA01055551;AL031846;AMYH01012775;BC051773;BC128418;CH471095;DQ064603;NM_175709 AAH51773;AAY68391;ABZ92314;EAW60297;EAW60298;EAW60299;EAW60300;EAW60301;NP_783640;O95931 Hs.356416 2133587;2165405 A003A08;HSC0XA102 OTTHUMP00000197317;OTTHUMP00000197318;OTTHUMP00000197319;chromobox protein homolog 7 protein-coding ENSG00000100307 1557 12234 608457 VALIDATED 1315340 CBX5 chromobox homolog 5 This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 12 12 q13.13 52921677 52960151 - 54624730 54673915 - 1580863;6480464 9636146;9636147;9864353;15502821;16177824;8663349;19352502;18809684;18676401;18264112;17470536;17381543;17213182;17101789;16762841;16648629;16487625;16189514;16127177;15899859;15882967;15635413;15489334;15454574;21346195;15342556;15196694;14730304;14702039;14585993;12867029;12711603;12692243;12565857;12560555;12485163;12477932;12414990;12411497;12242305;12154074;12054505;11959914;11942629;11336697;11242054;11242053;11112778;10938122;10882726;10562550;10460410;9454751;9169472;8864858;8505380;12697822;11484059;10549285;15120635;11793364;11799066;11516652;15723802;22205726;20498703;10330177;11313457;17540172;17698499;18029348;19479850;19486527;19498464;19566924;19567367;19617346;19666599;19783980;19880879;20011120;20049717;20110566;20154359;20231385;20421743;15849318;16687578;16751776;16945326;18648073;19661379;15485920;20562864;15306854;21209461;10699177;15145825;23077635;23281010;21364188;21374739;17314413;17403666;17962312;21383955;20080105;16622419;22939629;23028349;20695923;21047797;21900206;20923784;21875947;21888893;22615490;22496453;19471022;21139048;21693764;21890473;21906983;22234250;15200951;17884155;21988832;23000965;23287531;21704408;17081983;22318730;21029866;21199919;22505724;22139419;22922742;23142645;22900142 23468 F8VNY3;P45973 ABBA01008366;ABBA01008367;ABBA01008368;ABBA01008369;AC078778;AF147443;AK023520;AK055641;AK056315;AK095108;AK313506;AMYH01004488;BC006821;BC030149;BC047432;BP236173;BP336150;CH471054;CR457418;DT217255;L07515;NM_001127321;NM_001127322;NM_012117;S62077;U26311 AAA72327;AAB26994;AAC50553;AAH06821;ABZ92153;ABZ92313;BAG36286;CAG33699;EAW96758;EAW96759;EAW96760;NP_001120793;NP_001120794;NP_036249;P45973 Hs.349283 1669118;1670078;1677746;1684200;1686458;1697452;1777604;2140199;2175784;2177575;5014051;5015879;5022200;5022450;5022651;5024761;5037552;5109281;7186698 D10S275;D11S2921;D12S110E;D12S1966;D1S1425;D8S2278;D8S2279;GDB:314949;L18426;RH102227;RH36905;RH64861;RH68193;RH93620;SGC34021;STS-Z40708;WI-12071;WI-15869 HP1;HP1A HP1 alpha;HP1 alpha homolog;HP1-ALPHA;HP1Hs alpha;OTTHUMP00000241878;OTTHUMP00000241879;OTTHUMP00000241880;OTTHUMP00000241881;antigen p25;chromobox homolog 5 (HP1 alpha homolog, Drosophila);chromobox protein homolog 5;heterochromatin protein 1 homolog alpha;heterochromatin protein 1-alpha APPROVED protein-coding ENSG00000094916 1555 05131 604478 REVIEWED 1316437 CBX6 chromobox homolog 6 22 22 22 q13.1 23066901 23074916 - 37590189 37598204 - 39260243 39268258 - 1580863;6480464 15489334;14702039;12477932;10591208;20211142;20972438;15203218;22325352;21047797;21139048;21890473;21906983;19322201 23466 B0QXZ6;O95503 ABBA01055539;AK094829;AK293035;AL008583;AMYH01012769;BC012111;BC064900;CD625491;CH471095;HI574266;NM_014292 AAH12111;AAH64900;ABM84593;ABM86713;BAF85724;BAG52939;CBX47622;EAW60276;NP_055107;O95503 Hs.592201 1784504;2187319 SHGC-144773;STS-R45141 OTTHUMP00000197412;OTTHUMP00000197413;chromobox protein homolog 6 protein-coding ENSG00000183741 1556 13005 VALIDATED 1345009 CCA1 cataract, congenital, cerulean type, 1 7240710 7704021 878 1559 1351003 CBX8 chromobox homolog 8 17 17 17 q25.3 74393725 74396464 - 75382771 75385485 - 77768176 77770915 - 1580863;6480464 20601937;17332741;16169070;15489334;15009096;14702039;12477932;12167701;11439343;11313972;10825164;22325352;18029348;19636380;17936708;20431927;21047797;22094252;19471022;15856011;21282530;23474493;22990118 57332 C9J6K3;C9JM54;Q9HC52 ABBA01013830;AC100791;AF174482;AF266479;AK074560;AMYH01008684;BC008937;BC009376;BC019289;CH471099;NM_020649 AAF76328;AAG09180;AAH08937;AAH09376;AAH19289;ABZ92360;BAC11061;EAW89571;NP_065700;Q9HC52 Hs.387258 1338093;7186736 D20S196;D20S887 HPC3;PC3;RC1 OTTHUMP00000197310;OTTHUMP00000197311;OTTHUMP00000197312;Pc class 3 homolog;chromobox homolog 8 (Pc class homolog, Drosophila);chromobox protein homolog 8;polycomb 3;rectachrome 1 APPROVED protein-coding 15962 13006 VALIDATED 1345688 CCAL1 chondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early onset osteoarthritis) 7240710 7887424 882 1561 1349229 CCAT cataract, congenital 880 1563 7241106 CCAT1 colon cancer associated transcript 1 (non-protein coding) 21547902;23143645;23416875 100507056 ABBA01037941;AC020688;AC027531;AMYH01019012;XR_108886;XR_133500;XR_171750 Hs.343864 2134211 SHGC-34702 miscrna 45128 MODEL 7247298 CCAT2 colon cancer associated transcript 2 (non-protein coding) 23796952 101805488 GQ911591 LINC00873;NCCP1 miscrna 47044 1343969 CBY1 chibby homolog 1 (Drosophila) Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcriptional activation by competing with transcription factors for binding to beta-catenin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q12 37382604 37399801 + 39052658 39069855 + 1580863;6480464 12712206;15194699;19527514;19435523;19019335;18818748;18663750;18573912;17905836;17403895;16713569;16570344;15489334;15461802;15245581;12529303;12477932;11337467;11230166;10591208;19940019;20096688;15203218;20140262;21182262;22094256;22911743 25776 B0QY53;B0QY54;Q9Y3M2 AB015347;AB111855;ABBA01055529;ABBA01055530;AF331041;AK307265;AK311928;AL021707;AL050345;AL136686;AMYH01012764;AU099418;BC008839;BC016139;BK005534;CD626926;CD702742;CH471095;CR456410;NM_001002880;NM_015373 AAH16139;AAL56062;ADR82759;BAA88119;BAC78839;BAG34869;CAB43547;CAB66621;CAG30296;DAA05582;EAW60254;EAW60255;EAW60256;NP_001002880;NP_056188;Q9Y3M2 Hs.334911;Hs.744261 1670147;2109645 PGEA1_9407;RH41824 C22orf2;CBY;HS508I15A;PGEA1;PIGEA-14;PIGEA14;arb1 ARPP-binding protein;OTTHUMP00000198875;OTTHUMP00000198876;OTTHUMP00000198878;PKD2 interactor, Golgi and endoplasmic reticulum-associated 1;coiled-coil protein PIGEA-14;cytosolic leucine-rich protein;polycystin-2 interactor, Golgi- and endoplasmic reticulum-associated protein, 14 kDa;protein chibby homolog 1 APPROVED protein-coding ENSG00000100211 1307 09676 607757 REVIEWED 2289739 CC2D2A coiled-coil and C2 domain containing 2A This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 4 4 p15.32 15080760 15212278 + 15471489 15603180 + 6480464;7240710 19068953;18950740;18513680;18387594;16344560;14702039;12477932;10718198;21068128;19574260;19777577;20585324;21906983;22023432;22241855;23251661 57545 D6R9V3;H0Y941;Q9P2K1 AA441801;AB037766;ABBA01032570;ABBA01032571;AC007016;AC116651;AI376394;AK023876;AK025543;AK096047;AK309178;AMYH01014021;BC053865;BC061921;BC070395;BC103710;BX647334;CF528984;CH471069;DA860072;DB043556;EU450799;N35522;NG_013035;NM_001080522;NM_001164720;NM_020785 AAI03711;ACC96081;BAA92583;BAB14710;BAG10039;EAW92734;NP_001073991;NP_001158192;NP_065836;Q9P2K1 Hs.590928 1667263;1690916;1698580;1708220;2155400;2160963;2182599;5022322;5037552 D11S2560;D4S310;D8S2279;RH102842;RH92883;SHGC-24584;SHGC-67237;SHGC-79369;WI-22664 JBTS9;KIAA1345;MKS6 OTTHUMP00000217872;OTTHUMP00000217873;OTTHUMP00000217875;OTTHUMP00000217876;OTTHUMP00000217877;OTTHUMP00000217879;OTTHUMP00000217881;coiled-coil and C2 domain-containing protein 2A APPROVED protein-coding ENSG00000048342 29253 216360;612013;612284;612285 REVIEWED 1603884 CC2D1B coiled-coil and C2 domain containing 1B 1 1 1 p32.3 51102961 51118558 - 52588855 52604452 - 52816265 52831877 - 6480464 17084358;17084357;15146197;14702039;12477932;11347906;8889548;19423080;22863883;22779921 200014 H0Y517;H7C1U3;Q5T0F9;R4GMP1 AB058739;ABBA01074775;AK093605;AK095487;AK130874;AL513218;AMYH01000619;BC007912;BC014080;BC016880;BC039308;BM975102;BQ073406;BX337298;CH471059;CN279193;DB458797;NM_032449 AAH07912;AAH16880;AAH39308;BAB47465;BAC85450;EAX06785;EAX06786;EAX06787;EAX06788;EAX06789;NP_115825;Q5T0F9 Hs.591451 1667119;1739879;1854654;2139176;2156012;5022578 A005E48;D1S1423;D1S2354;D1S2512;D1S3534;SHGC-74828 KIAA1836;RP11-155O18.2 FRE under dual repression-binding protein 2;OTTHUMP00000009793;OTTHUMP00000009794;OTTHUMP00000009795;OTTHUMP00000009796;coiled-coil and C2 domain-containing protein 1B;five prime repressor element under dual repression-binding protein 2;freud-2 protein-coding ENSG00000154222 29386 12393 VALIDATED 1345566 CCAR1 cell division cycle and apoptosis regulator 1 10 10 q21.3 70150977 70221315 + 70480971 70551309 + 737633;1580863;6480464 12477932 12226669;18029348;19073175;18722177;18382127;18321953;17513614;17081983;16543231;15489334;15302935;15164054;15069192;14743216;14702039;12816952;17332742;18655026;20562859;16712791;16341674;16385451;19520846;22990118;22905258;20360068;21903591;19471022;21139048;21693764;21890473;22266316;22586326;22365833;23184937;23246001 55749 F5H1H2;F5H1L3;F5H2E6;F5H3E1;F5H3I8;F5H7M9;F5H808;H0YFJ7;H0YFT7;Q5VUP6 ABBA01019587;ABBA01019588;ABBA01019589;ABBA01019590;AF465616;AK000741;AK001701;AK023438;AK122871;AK292649;AK298004;AK299307;AK307550;AK307671;AK307704;AL391539;AL513534;AMYH01002804;AY249140;BC015475;BC026036;BC058846;BC089420;BC108682;BC130626;BC132725;BC144118;BM786237;BM905703;BU181074;BX647943;CB136079;CH471083;HI574014;NM_018237 AAH15475;AAH26036;AAH89420;AAI08683;AAI30627;AAI32726;AAO17319;AAP82002;BAA91354;BAA91847;BAB14574;BAF85338;BAG60310;BAG61320;CBX47496;EAW54300;EAW54301;EAW54302;NP_060707;Q8IX12 Hs.49853 1688300;1769696 D10S1418;RH98330 MGC44628;RP11-437A18.1 OTTHUMP00000019709;OTTHUMP00000236721;OTTHUMP00000236724;OTTHUMP00000236725;cell cycle and apoptosis regulatory protein 1;cell division cycle and apoptosis regulator protein 1;death inducer with SAP domain protein-coding ENSG00000060339 24236 10811 612569 VALIDATED 1606546 CC2D1A coiled-coil and C2 domain containing 1A This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009] 19 19 p13.12 13878052 13902692 + 14016956 14041693 + 6480464;7240710 16033914;12761501;18029348;18806297;18662999;17714190;17535813;17394259;17084358;16964243;16344560;15592455;15534042;15489334;14756806;14702039;14569116;12477932;20205790;22406677;21274377;21189260;20529849;16730941;19948489;20171170;22328058;22258254;16051665;20392296;21900206;22023432;22833682;22944692 54862 K7EJY5;K7EMP1;Q6P1N0 AB097002;ABBA01029706;AC020916;AF536205;AK000248;AK023399;AK026371;AK123155;AK315068;AMYH01009516;AMYH01009517;BC006556;BC048345;BC064981;BC113968;BP395853;CH471106;DB065701;NG_013089;NM_017721 AAH48345;AAH64981;AAI13969;AAN04488;BAA91029;BAB14561;BAB15464;BAC77355;EAW84380;NP_060191;Q6P1N0 Hs.269592 1339087;1701390;5014467;5016808;5021872;5022651 D11S2921;D19S840;GDB:313557;RH104325;RH80706;sY3084 FLJ20241;FLJ41160;FREUD-1;Freud-1/Aki1;MRT3 Akt kinase-interacting protein 1;FRE under dual repression-binding protein 1;coiled-coil and C2 domain-containing protein 1A;five prime repressor element under dual repression-binding protein 1;five repressor element under dual repression-binding protein 1;mental retardation, nonsyndromic, autosomal recessive, 3;putative NF-kappa-B-activating protein 023N;putative NFkB activating protein APPROVED protein-coding ENSG00000132024 30237 08616 608443;610055 REVIEWED 1349047 CCBE1 collagen and calcium binding EGF domains 1 This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010] 18 18 18 q21.32 53815992 54082692 - 55252124 55515570 - 57098171 57364644 - 6480464;7240710 19287381;18519826;18466450;14702039;12975309;12477932;11853319;19911200;19935664;19935792;20379614;21778431;21988832;22239599 147372 K7EQ81;Q6UXH8 AB075863;ABBA01056169;AC010776;AC016229;AC090213;AF087966;AK055243;AMYH01009040;AY358347;BC046645;BF434122;BF515087;BX640826;CH471096;CX782134;EY892390;HC883734;NG_016990;NM_133459 AAH46645;AAQ88713;BAB85569;CAE45902;CBM42919;EAW63100;EAW63101;NP_597716;Q6UXH8 Hs.34333 1700528;1707442;1718315;1730331;1738467;1761379;1774429;1783734;2140304;2146051;5014051;5015861;5016478;5016781;5021872;5022651;5037552;7185938 D10S16;D11S2921;D17S1644E;D18S1003;D8S2278;D8S2279;GDB:434012;RH103885;RH122929;RH16234;SHGC-145395;SHGC-155286;SHGC-34476;SHGC-67307;SHGC-84515;STS-H68552;sY3084 FLJ30681;MGC50861 collagen and calcium-binding EGF domain-containing protein 1;full of fluid protein homolog APPROVED protein-coding 29426 08703 235510;612753 REVIEWED 1321297 CC2D2B coiled-coil and C2 domain containing 2B 10 10 10 q24.1 91501058 91533652 + 97749873 97782431 + 97759848 97792441 + 16385451;16344560;15489334;15164054;14702039;12477932 387707 B7ZBR7;B7ZBX6;Q6DHV5;Q6ZW91 ABBA01021832;AK022203;AK302377;AL356155;AL513355;AMYH01002970;BC075861;CH471066;DB026257;NM_001001732;NM_001159747 AAH75861;BAG63696;EAW49985;NP_001001732;NP_001153219;Q6DHV5 Hs.538374;Hs.652240 2161533 D10S1449 C10orf130;FLJ12141;bA248J23.4 OTTHUMP00000020164;OTTHUMP00000205754;protein CC2D2B protein-coding ENSG00000188649 31666 16578 VALIDATED 1315794 CCBL1 cysteine conjugate-beta lyase, cytoplasmic This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 9 9 q34.11 130635213 130684175 - 131595392 131644354 - 1580863;2306289;6480464;6907045 16984225 7883047;18342615;10369878;8968194;8736988;7814371;2139845;17207965;16828464;16463021;16376499;16344560;15489334;15164053;15016471;14702039;12477932;15364907;19338303;18029348;21832049;22939629;22093698 883 A8K563;B7Z4W5;Q16773;Q5T276;Q5T277;Q5T278 ABBA01043904;ABBA01043905;ABBA01043906;ABBA01043907;AK094505;AK291178;AK297995;AK314427;AL441992;AL672142;AMYH01021752;AMYH01021753;AU123740;AW073815;BC013069;BC021262;BC022468;BC033685;BI755163;BU622726;CH471090;DA381449;EL733697;NM_001122671;NM_001122672;NM_004059;X82224;Y17447;Y17448 AAH21262;AAH33685;BAF83867;BAG37043;BAG52878;BAH12701;CAA57702;CAB44342;CAB44343;EAW87840;EAW87841;NP_001116143;NP_001116144;NP_004050;Q16773 Hs.495250 1679211;1767381;1777040;1791250;1931894;2119408;2129332;5014740;5016364;5022200 D17S610;L18426;L18429;MARC_8233-8234:996688438:1;REN36776;RH46270;RH71294;RH93380;SHGC-31452;WI-22794 FLJ95217;GTK;KAT1;KATI;MGC29624 OTTHUMP00000022311;OTTHUMP00000022312;beta-lysase, kidney;cysteine-S-conjugate beta-lyase;glutamine transaminase K;glutamine--phenylpyruvate transaminase;glutamine-phenylpyruvate aminotransferase;kyneurenine aminotransferase;kynurenine aminotransferase I;kynurenine--oxoglutarate transaminase 1;kynurenine--oxoglutarate transaminase I APPROVED protein-coding ENSG00000171097 1564 02769 600547 REVIEWED 1606260 CCBL2 cysteine conjugate-beta lyase 2 This gene encodes an aminotransferase that transaminates kynurenine to form kynurenic acid. Kynurenic acid is a metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene. This gene shares 5' exon structure with the RNA binding motif protein, X-linked-like 1 locus on chromosome 1, but the coding sequences are non-overlapping. [provided by RefSeq, Jun 2009] 1 1 1 p22.2 87647258 87704434 - 89174044 89231104 - 89401456 89458643 - 6480464;6907045 19165527;16376499;14702039;12477932;11181995;10441733;8889548;16169070;21145461;20379614;20877624;22001757;21492941;21139048;21890473;21906983;21628590 56267 B4DW13;Q9BVY5 ABBA01045589;ABBA01045590;ABBA01045591;AF091090;AI478599;AK057176;AK301326;AK315917;AL445991;AL833593;AMYH01000777;AY028624;BC000819;BM728982;CH471097;CR450282;CR627392;DC424120;NM_001008661;NM_001008662 AAC72959;AAH00819;AAK26163;BAG51875;BAG62875;BAH14288;CAG29278;CAH10487;EAW73154;EAW73157;EAW73158;NP_001008661;NP_001008662;Q6YP21 Hs.481898 1690105;2122473;2163921;2185571;2186878;5016596 A004S46;GDB:631802;RH93455;SHGC-35041;SHGC-75110;SHGC-75112 DKFZp547N1117;DKFZp667D0223;KAT3;KATIII;MGC9398;RBM1;RBMXL1;RP11-82K18.3;RP4-531M19.2 OTTHUMP00000012357;OTTHUMP00000012359;cysteine-S-conjugate beta-lyase 2;kynurenine aminotransferase III;kynurenine--glyoxylate transaminase;kynurenine--oxoglutarate transaminase 3;kynurenine--oxoglutarate transaminase III;kynurenine-oxoglutarate transaminase 3 APPROVED protein-coding ENSG00000137944 33238 13752 610656 REVIEWED 1605307 CCDC102A coiled-coil domain containing 102A 16 16 16 q21 42046911 42071294 - 56103591 56127978 - 57546090 57570477 - 6480464 15489334;12477932;23137000 92922 Q96A19 ABBA01025273;ABBA01025274;ABBA01025275;AC004382;AMYH01007702;AMYH01007703;AMYH01007704;BC004307;BC008285;BC009941;CA449463;CH471092;NM_033212 AAH04307;AAH08285;AAH09941;ABM83575;ABM86814;EAW82935;NP_149989;Q96A19 Hs.644611 2191171 MARC_15717-15718:1013527516:1 MGC10992;MGC13119 OTTHUMP00000164677;coiled-coil domain-containing protein 102A protein-coding ENSG00000135736 28097 14408 VALIDATED 1604249 CCDC101 coiled-coil domain containing 101 CCDC101 is a subunit of 2 histone acetyltransferase complexes: the ADA2A (TADA2A; MIM 602276)-containing (ATAC) complex and the SPT3 (SUPT3H; MIM 602947)-TAF9 (MIM 600822)-GCN5 (KAT2A; MIM 602301)/PCAF (KAT2B; MIM 602303) acetylase (STAGA) complex. Both of these complexes contain either GCN5 or PCAF, which are paralogous acetyltransferases (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010] 16 16 p11.2 28472758 28510610 + 28565249 28603111 + 6480464 21685874;21746879;16189514;15489334;14702039;12477932;8889549;18838386;19615732;19915574;17334388;15932940;20508642;22939629;20360068;21139048;23044487 112869 H3BN84;H3BPL5;Q96ES7 AA132314;AA132818;ABBA01043647;AC020765;AK057008;AMYH01007435;AMYH01007436;BC011981;CH471279;NM_138414 AAH11981;BAB71340;EAW52272;NP_612423;Q96ES7 Hs.655476 1676500;1678517;2116432;2191613 MARC_27514-27515:1034369541:3;RH70266;RH80061;SHGC-60826 FLJ32446;SGF29;STAF36 OTTHUMP00000162566;SAGA-associated factor 29 homolog;coiled-coil domain-containing protein 101 APPROVED protein-coding ENSG00000176476 25156 13996 613374 VALIDATED 1602038 CCDC103 coiled-coil domain containing 103 This gene encodes a protein that contains a coiled-coil domain. [provided by RefSeq, Apr 2012] 17 17 17 q21.31 39687658 39691132 + 40332680 40336155 + 42977080 42981047 + 6480464 15489334;14702039;12477932;17207965;16344560;22581229;20301301 388389 F8W6J8;J3KSE5;Q8IW40 ABBA01028341;AC015936;AK091530;AK289760;AMYH01008431;BC041060;BQ448043;CH471178;DA185416;DA749894;DB024698;DB085134;DB451789;NG_032674;NG_032792;NM_001258395;NM_001258396;NM_001258397;NM_001258398;NM_001258399;NM_213607 AAH41060;ADQ32094;BAF82449;EAW51572;NP_001245324;NP_001245325;NP_001245326;NP_001245327;NP_001245328;NP_998772;Q8IW40 Hs.743398 1853861;2148774;2167075 RH78023;SHGC-24053;WI-13537 CILD17;FLJ13094;FLJ34211;PR46b;SMH OTTHUMP00000205386;OTTHUMP00000205387;OTTHUMP00000205388;coiled-coil domain-containing protein 103 APPROVED protein-coding 32700 14200 614677;614679 REVIEWED 1344849 CCDC102B coiled-coil domain containing 102B 18 18 18 q22.1 63229092 63570133 + 64533471 64873406 + 66382491 66722426 + 6480464 16344560;15489334;14702039;12477932;8125298;1707030;20379614 79839 A1A4H1;C9JV39;J3KRG3;J3KRT2;J3QL62;J3QLG6;Q68D86 ABBA01056275;ABBA01056276;ABBA01056277;AC011087;AC022035;AC040896;AC096708;AK027247;AK057282;AK091108;AK225597;AK308114;AL833863;AMYH01009072;AMYH01009073;AMYH01009074;BC056269;BC126448;BC126450;BQ003970;CH471117;CK823962;CR749520;DB020599;DC380577;DC382329;NM_001093729;NM_024781 AAH56269;AAI26449;AAI26451;BAB15706;CAD38721;CAH18334;EAW66511;EAW66512;NP_001087198;NP_079057;Q68D86 Hs.280781 1337649;1664777;1668298;1676948;1708388;1708518;1709936;1722647 D18S1313;D18S466;G60407;RH80679;SHGC-82233;SHGC-82876;SHGC-85034;STS-AA029428 ACY1L;AN;C18orf14;DKFZp434K1426;DKFZp686I08254;FLJ23594;HsT1731;MGC161726;MGC161728 OTTHUMP00000163692;aminoacylase 1-like;coiled-coil domain-containing protein 102B protein-coding ENSG00000150636 26295 08038 VALIDATED 1602986 CCDC105 coiled-coil domain containing 105 19 19 19 p13.12 15017220 15029771 + 14982556 14995081 + 15121539 15134083 + 6480464 14702039;12477932;19773279 126402 Q8IYK2 ABBA01051092;ABBA01051093;AC004659;AC104528;AK097684;AL833847;AMYH01009542;BC035678;CH471106;NM_173482 AAH35678;BAC05142;CAD38706;EAW84458;NP_775753;Q8IYK2 Hs.375985 FLJ40365 coiled-coil domain-containing protein 105 protein-coding ENSG00000160994 26866 08280 VALIDATED 1603927 CCDC104 coiled-coil domain containing 104 2 2 2 p16.1 55587129 55612615 + 55600244 55625720 + 55746740 55772216 + 6480464 15815621;15489334;12975309;12477932;18029348;20936779;19680650;20639865;18654987;21139048;21890473;21906983;22505724 112942 B5MC35;B5MCA1;B5MD16;Q96G28 ABBA01075270;AC015982;AC019198;AK308776;AK309764;AMYH01010364;AY358097;BC001797;BC010011;BM993564;CH471053;NM_080667 AAH10011;AAQ88464;AAY14933;AAY24269;ABM84008;ABM87342;EAX00097;EAX00098;NP_542398;Q96G28 Hs.264208 2159258;2171125;2183659 RH66650;STS-Z41123;WI-13778 MGC15407 OTTHUMP00000159693;OTTHUMP00000198248;OTTHUMP00000201265;OTTHUMP00000201267;coiled-coil domain-containing protein 104 protein-coding ENSG00000163001 30540 14445 VALIDATED 1606123 CCDC108 coiled-coil domain containing 108 2 2 2 q35 213637289 213675960 - 219575820 219614489 - 219867576 219906245 - 6480464 12477932;21822266;16344560 255101 C9JIV0;C9JLP9;C9JVA0;E9PG25;E9PG72;H7C0B4;Q49A14;Q6ZU64 AA503417;ABBA01023853;AC097468;AK123235;AK125957;AK127189;AK302678;AK302688;AL048936;AL833882;AMYH01011501;AMYH01011502;AMYH01011503;BC031585;BC039688;BC047637;BC130281;BG723301;BX649039;DB070903;HY027454;NM_001278295;NM_001278296;NM_152389;NM_194302 AAH31585;AAH47637;AAI30282;AAX88919;ADZ16075;BAC85566;BAC86362;BAC86878;BAG63910;BAG63917;CAD38738;NP_001265224;NP_001265225;NP_689602;NP_919278;Q6ZU64 Hs.147762 DKFZp434O0527;MGC35338 OTTHUMP00000163969;OTTHUMP00000163970;OTTHUMP00000206325;coiled-coil domain-containing protein 108 protein-coding ENSG00000181378 25325 13201;17534 614270 VALIDATED 1344036 CCDC11 coiled-coil domain containing 11 18 18 18 q21.1 44610119 44649420 - 46007561 46046863 - 47753563 47792865 - 737633;6480464 12477932 15489334;14702039;16189514;21832049;20379614;22577226 220136 Q96M91 ABBA01018669;ABBA01018670;AC090246;AK057305;AK302114;AMYH01008994;AMYH01008995;BC030606;CH471096;NM_145020 AAH30606;BAB71418;BAG63493;EAW62960;EAW62961;NP_659457;Q96M91 Hs.658630 1730545 D18S94 FLJ32743;HTX6 OTTHUMP00000163503;coiled-coil domain-containing protein 11 protein-coding ENSG00000172361 26530 09958 614759;614779 VALIDATED 1607037 CCDC106 coiled-coil domain containing 106 19 19 19 q13.42 53201244 53206819 + 60850766 60856339 + 56158954 56164527 + 6480464 15790807;12477932;9110174;8619474;16169070;15489334;14702039;20159018;21832049 29903 K7EMI9;K7EMP7;K7ER22;K7ES29;Q9BWC9 ABBA01020862;AC008735;AF054984;AK097095;AMYH01010006;AY927563;AY927628;BC000412;BC008956;BI907663;CH471135;CR450308;GU354321;GU354322;GU354323;NM_013301;U79303 AAB50227;AAH00412;AAH08956;ABZ92128;ADC34060;ADC34061;ADC34062;BAG53421;CAG29304;EAW72401;NP_037433;Q9BWC9 Hs.82482 HSU79303;ZNF581 coiled-coil domain-containing protein 106;protein predicted by clone 23882 protein-coding 30181 09995 613478 VALIDATED 1605844 CCDC107 coiled-coil domain containing 107 This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] 9 9 9 p13.3 35591860 35594733 + 35648311 35651184 + 35658287 35661500 + 6480464 16713569;15489334;15164053;12477932;8889548;21832049 203260 Q8WV48 ABBA01064988;AK075523;AK307223;AL357874;AMYH01019347;BC018758;BC051285;BE903559;BM973388;CH471071;CS051361;DC410699;DQ884403;NG_017041;NG_033120;NM_001195200;NM_001195201;NM_001195217;NM_174923 AAH18758;AAH51285;ABI63370;ABM82866;ABM86052;BAC11669;CAI72175;EAW58364;EAW58365;EAW58366;EAW58367;EAW58368;EAW58369;NP_001182129;NP_001182130;NP_001182146;NP_777583;Q8WV48 Hs.534579 FLJ97171;MGC31967;PSEC0222;RP11-331F9.6 OTTHUMP00000021334;OTTHUMP00000021335;OTTHUMP00000021336;OTTHUMP00000021337;coiled-coil domain-containing protein 107 protein-coding ENSG00000159884 28465 14545 REVIEWED 1602886 CCDC109B coiled-coil domain containing 109B 4 4 4 q25 107775242 107902535 + 110700866 110828321 + 110481355 110608872 + 6480464 16341674;15489334;15146197;14702039;12477932;16169070;19773279;20332099;17207965;21139048;23455636 55013 C9JTJ6;Q9NWR8 ABBA01063777;ABBA01063778;ABBA01063779;ABBA01063780;ABBA01063781;ABBA01063782;ABBA01063783;AC004067;AC105314;AK000654;AK095936;AK291098;AK311030;AL832311;AMYH01014457;AMYH01014458;BC002633;BM830891;CH471057;CN427680;CR457234;NM_017918 AAH02633;ADQ31823;BAA91309;BAF83787;CAG33515;EAX06242;EAX06243;NP_060388;Q9NWR8 Hs.234149 1644863;1650647;1662290;1666789;1698608;1767711;1772166;2134913;2144014;2155190;2155192;2161978;2185398 G16732;G19585;RH102859;SHGC-19822;SHGC-19823;SHGC-19830;SHGC-19832;SHGC-19837;SHGC-19839;SHGC-23008;SHGC-50796;SHGC-67915;SHGC4-1507 FLJ20647 OTTHUMP00000162741;coiled-coil domain-containing protein 109B protein-coding 26076 07939 VALIDATED 1606416 CCDC110 coiled-coil domain containing 110 4 4 4 q35.1 183693987 183720463 - 186603341 186629871 - 186366336 186392913 - 6480464 14702039;15489334;15447989;12477932;18160854;18029348;21145461 256309 D6RB18;D6RCR3;D6RDN4;E7EUS2;H0Y9S3;Q8TBZ0 AB080722;ABBA01070532;ABBA01070533;AC106897;AI949455;AK097605;AK302815;AL833337;AMYH01014775;AMYH01014776;BC028419;BC038515;BU567268;BX641119;CH471056;DB453450;NM_001145411;NM_152775 AAH28419;AAH38515;ABM85671;BAC05116;BAC81776;BAG64014;EAX04642;EAX04643;NP_001138883;NP_689988;Q8TBZ0 Hs.41101 2145706 STS-H64141 CT52;KM-HN-1;KMHN1;MGC33607 OTTHUMP00000218164;OTTHUMP00000218165;OTTHUMP00000218166;OTTHUMP00000218206;cancer/testis antigen 52;cancer/testis antigen KM-HN-1;coiled-coil domain-containing protein 110 protein-coding ENSG00000168491 28504 11335 609488 VALIDATED 1606143 CCDC112 coiled-coil domain containing 112 5 5 5 q22.3 110550404 110580924 - 114630784 114660357 - 114602885 114632458 - 6480464 16189514;15146197;12477932;8889548;17207965 153733 D6RF76;Q8NEF3 ABBA01069034;AC008494;AJ580807;AMYH01015556;BC031242;BM873447;BM873516;BM975079;CH471086;CN310912;CX786155;DB451908;DB455340;DB476530;NM_001040440;NM_152549 AAH31242;ADQ31767;CAE45342;EAW48966;EAW48967;NP_001035530;NP_689762;Q8NEF3 Hs.436121 1686849 RH91257 MBC1;MGC39633 OTTHUMP00000159134;OTTHUMP00000196940;OTTHUMP00000222913;OTTHUMP00000222914;coiled-coil domain-containing protein 112;mutated in bladder cancer 1;mutated in bladder cancer protein 1 protein-coding ENSG00000164221 28599 11346 VALIDATED 1605846 CCDC111 coiled-coil domain containing 111 4 4 4 q35.1 182899431 182944944 + 185807896 185853106 + 185570767 185616112 + 6480464 14702039;12477932;15489334;15342556;19773279;16027112 201973 D6R908;D6R971;D6RAH5;D6RDM1;H0Y9N8;Q96LW4 ABBA01070517;AC079257;AK057729;AK307317;AMYH01014768;BC018930;BC047467;BC064600;BP245596;BX647575;CH471056;NM_152683 AAH64600;BAB71553;CAI46079;EAX04667;EAX04668;EAX04669;EAX04670;EAX04671;EAX04672;NP_689896;Q96LW4 Hs.481307 1648946;1657223;1675321;1690722;1690832;1715807;1771511;2117577;2121666;2127567;2163671;2176920;5093946 D4S2666;D4S591;G33016;RH119600;RH36537;RH67709;RH76703;RH92480;SHGC-35919;SHGC-50302;SHGC-50366;SHGC-50594;SHGC-68220 FLJ33167 OTTHUMP00000218321;OTTHUMP00000218322;OTTHUMP00000218323;OTTHUMP00000218325;coiled-coil domain-containing protein 111 protein-coding ENSG00000164306 26575 08742 VALIDATED 6768870 CCDC11P1 coiled-coil domain containing 11 pseudogene 1 5 p13.1 39571582 39572774 - 100129040 ABBA01024212;AC026708;AMYH01015043;NG_021844 1337385;1651493;1704194;1715061 CHLC.GATA22B04;D5S577;RH119482;SHGC-79824 pseudo 43919 INFERRED 1602080 CCDC114 coiled-coil domain containing 114 This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013] 19 19 19 q13.33 45664943 45688566 - 53491532 53499144 - 48799709 48823332 - 6480464 16344560;14702039;12477932;19913121;20628086;23261302;23506398;23261303 93233 Q96M63 ABBA01033001;ABBA01033002;ABBA01033003;ABBA01033004;ABBA01033005;AC008392;AK057357;AK057488;AK128144;AL122083;AMYH01009900;BC007730;BC025752;BC031619;BC117431;BC117433;BX101994;CH471177;DB060305;NG_033251;NM_144577 AAI17432;AAI17434;BAB71448;BAB71508;BAC87296;CAB59257;EAW52327;EAW52328;EAW52329;EAW52330;EAW52331;EAW52332;NP_653178;Q96M63 Hs.112645 1700918;5014063 D15S1390;RH104086 CILD20;FLJ32926 OTTHUMP00000209278;coiled-coil domain containing 114;coiled-coil domain-containing protein 114 protein-coding ENSG00000105479 26560 08149 615038;615067 REVIEWED 1606018 CCDC113 coiled-coil domain containing 113 16 16 16 q21 42783261 42817187 + 56841364 56875241 + 58283840 58317740 + 6480464 11256614;16381901;15489336;15489334;12477932;11230166;11076863;11042152;16169070;18029348 29070 H3BMZ8;H3BQS9;Q9H0I3 ABBA01025300;AC009107;AF161550;AK027208;AK299066;AK314300;AL136785;AMYH01007709;AMYH01007710;BC126445;BC126447;CH471092;CR533506;DC369542;NM_001142302;NM_014157 AAF29037;AAI26446;AAI26448;ADR82957;BAB15692;BAG36954;BAG61132;CAB66719;CAG38537;CAL37709;EAW82970;NP_001135774;NP_054876;Q9H0I3 Hs.11614 1684995;1700190;1738631;2119570;5015861;5015961;5022383;5024761;5037552;7185938 D10S16;D15S1477;D16S2766;D8S2279;ECD04345;RH103710;RH36905;RH69554;RH98341 DKFZp434N1418;FLJ23555;HSPC065 OTTHUMP00000164725;coiled-coil domain-containing protein 113 protein-coding ENSG00000103021 25002 07121 VALIDATED 1603946 CCDC115 coiled-coil domain containing 115 2 2 2 q21.1 124369157 124373263 - 130812286 130816392 - 131095816 131099922 - 6480464 14702039;12477932;21118521;21832049;21900206;21139048;21890473 84317 B4DJ47;B8ZZ99;F8WCZ3;Q96NT0 ABBA01017957;AC132479;AK054693;AK124405;AK295922;AMYH01011053;BC006429;CH471263;NM_032357 AAH06429;AAY24075;BAB70794;BAG58709;EAW55610;EAW55611;EAW55612;NP_115733;Q96NT0 Hs.104203 2161660;2163287;2175081 A003B44;RH70800;WI-21758 FLJ30131;MGC12981;ccp1 OTTHUMP00000162399;OTTHUMP00000204515;OTTHUMP00000204516;coiled-coil domain-containing protein 115 protein-coding ENSG00000136710 28178 14428 613734 PROVISIONAL 1602289 CCDC116 coiled-coil domain containing 116 22 22 22 q11.21 5804626 5809156 + 20317086 20321616 + 21987086 21991616 + 6480464 16396496;16189514;15489334;14702039;12477932;23072936;23128233 164592 C9JW89;Q8IYX3 ABBA01055055;AK093365;AK302030;AMYH01012636;AP000553;BC033499;CH471095;HC006868;NM_152612 AAH33499;ADZ15446;BAC04145;BAH13611;CBH19239;EAW59465;EAW59466;NP_689825;Q8IYX3 Hs.131615 1788944 UniSTS:225108 FLJ36046 OTTHUMP00000198555;OTTHUMP00000198557;coiled-coil domain-containing protein 116 protein-coding ENSG00000161180 26688 08203 PROVISIONAL 1343271 CCDC12 coiled-coil domain containing 12 3 3 3 p21.31 46901718 46956791 - 46938225 46993242 - 46963220 47018270 - 737633;6480464;6907045 12477932 21103663;15146197;15489334;14702039;8889548;17207965;20360068;21139048;22269669 151903 C9JUN5;J3KR35;Q8WUD4 ABBA01024709;ABBA01024710;AC094020;AC109583;AK096749;AK098120;AK295532;AK303160;AMYH01013137;AMYH01013138;BC020830;BM676030;BM803652;BQ709657;BX098833;CH471055;CN430023;CV574708;DA952452;DC379144;NM_001277074;NM_144716;NR_102269 AAH20830;ADQ32239;BAC04857;BAG58444;BAG64261;EAW64795;EAW64796;EAW64797;EAW64798;EAW64799;NP_001264003;NP_653317;Q8WUD4 Hs.631918;Hs.692157;Hs.744750 1712154;1769976 G54127;STS-N26202 FLJ39430;FLJ40801;MGC23918 OTTHUMP00000164781;coiled-coil domain-containing protein 12 protein-coding ENSG00000160799 28332 13007 VALIDATED 1603009 CCDC121 coiled-coil domain containing 121 2 2 2 p23.3 27693962 27697354 - 27702010 27705383 - 27848506 27851898 - 6480464 14702039;12477932;11181995;16344560;21386085 79635 E5RHR4;Q6ZUS5 ABBA01045213;AC074091;AK023708;AK124337;AK125354;AMYH01010199;BC056244;BC066936;BC066969;CH471053;DB044538;DB325100;DB444296;DB452051;DB554665;NM_001142683;NM_024584 AAH66936;AAH66969;AAX93200;ADZ15612;BAB14651;BAC86143;BAG54028;EAX00560;EAX00561;NP_001136155;NP_078860;Q6ZUS5 Hs.21081 2117114;2117116;2169301;2172690 A006C05;D2S1424;G20691;WI-18604 FLJ13646;FLJ43364 OTTHUMP00000158534;OTTHUMP00000200844;OTTHUMP00000225829;coiled-coil domain-containing protein 121 protein-coding ENSG00000176714 25833 07834 VALIDATED 1602294 CCDC117 coiled-coil domain containing 117 22 22 22 q12.1 12968632 12985253 + 27498707 27515278 + 29168662 29185283 + 6480464 18029348;15489334;15461802;14702039;12477932;10591208;21139048;19322201 150275 B0QYH1;B0QYH3;B7Z2V1;B7Z820;B7Z860;F8WBN8;Q8IWD4 ABBA01055242;AK091133;AK092636;AK289516;AK295140;AK302798;AK302925;AL023494;AMYH01012692;BC040488;BC053874;BC065549;CH471095;CR456461;CS185626;NM_173510;Z93930 AAH40488;AAH53874;AAH65549;BAC03592;BAF82205;BAH11987;BAH13806;BAH13846;CAG30347;CAJ42807;EAW59761;EAW59762;NP_775781;Q8IWD4 Hs.406460 1663405;1680463;1684300;1721455;2170239;2170241 A002B44;CHLC.GAAT4H07;D22S1010E;G19906;G59579;WIAF-2134 FLJ33814;dJ366L4.1 OTTHUMP00000199103;coiled-coil domain-containing protein 117 protein-coding ENSG00000159873 26599 08167 VALIDATED 1602063 CCDC122 coiled-coil domain containing 122 13 13 13 q14.11 25466632 25509968 - 43308488 43351826 - 44410488 44453826 - 6480464 17672918;16344560;14702039;12477932;20018961 160857 B7ZMJ0;Q5T0U0 ABBA01021238;AK056408;AL512506;AMYH01005080;AW373287;BC137289;BC137290;BC144570;BC144571;CA427248;CH471075;DA739121;NM_144974 AAI37290;AAI37291;AAI44571;AAI44572;BAB71178;EAX08697;EAX08698;EAX08699;EAX08700;NP_659411;Q5T0U0 Hs.170849 2183378;5014051;5015619;5022578;5037552;5109281 D11S3114;D1S1423;D1S1425;D8S2278;D8S2279;RH65800 FLJ31846 OTTHUMP00000018805;OTTHUMP00000178592;coiled-coil domain-containing protein 122 protein-coding ENSG00000151773 26478 13406 613408 VALIDATED 1606197 CCDC120 coiled-coil domain containing 120 This gene encodes a protein that contains a coiled-coil domain. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Nov 2012] X X X p11.23 52736981 52747975 - 48803460 48814454 + 48916516 48927510 + 6480464 19447967;16344560;16189514;15489334;14702039;12477932;19377476 90060 A8K5Q5;B4DF24;B4DFC1;Q96HB5 ABBA01046108;ABBA01046109;ABBA01046110;AC231657;AF196779;AK001937;AK056290;AK125424;AK291370;AK293898;AK294024;AK300366;AK315837;AMYH01022292;BC008769;CH471224;DA102343;DA105393;DA237030;NG_016255;NM_001163321;NM_001163322;NM_001163323;NM_001271835;NM_001271836;NM_033626 AAH08769;ABM83863;ABM84608;ABM87185;ABM87192;ABW03534;ABW03839;BAF84059;BAF98728;BAG57285;BAG57382;BAG62104;EAW50708;EAW50709;EAW50710;NP_001156793;NP_001156794;NP_001156795;NP_001258764;NP_001258765;NP_296375;Q96HB5 Hs.522643 5015619;5022578;5037552;5109281 D11S3114;D1S1423;D1S1425;D8S2279 JM11 OTTHUMP00000023269;coiled-coil domain-containing protein 120 APPROVED protein-coding ENSG00000147144 28910 06595 REVIEWED 1604973 CCDC125 coiled-coil domain containing 125 5 5 5 q13.2 65578896 65619200 - 68612275 68652166 - 68576519 68616410 - 6480464 12477932;19787194;18029348 202243 F8W912;Q86Z20 AB024691;AB024692;ABBA01048277;ABBA01048278;ABBA01048279;ABBA01048280;AC145132;AC145145;AI141520;AK299871;AL832658;AMYH01015145;AMYH01015146;BC108715;BC113749;BQ923745;CH471137;NM_176816 AAI13750;AAI60002;BAC57450;BAC57451;BAG61723;EAW51298;EAW51299;NP_789786;Q86Z20 Hs.654850 1728449;5014740;5014959;5015619;5015881;5017227;5022651;5037552;5109549;5118444 D11S2921;D11S3114;D11S3316;D17S610;D21S1698;D8S2279;G38154;G63660;GDB:335751;L31433 KENAE Kenae;OTTHUMP00000161932;OTTHUMP00000192869;OTTHUMP00000222129;coiled-coil domain-containing protein 125;protein kenae protein-coding ENSG00000183323 28924 13774 613781 VALIDATED 6481201 CCDC13-AS1 CCDC13 antisense RNA 1 3 42774067 42786650 + 100874114 ABBA01024763;AC006059;AMYH01013115;NR_046732 Hs.669654 APPROVED miscrna ENSG00000173811 41142 PREDICTED 1602081 CCDC126 coiled-coil domain containing 126 7 7 7 p15.3 23625775 23673096 + 23603523 23650852 + 23636998 23684327 + 6480464 12975309;12690205;12477932;9847074 90693 C9J0J0;Q96EE4 AACC02000007;ABBA01056713;AC006026;AK026684;AK289911;AL598772;AMYH01017116;AMYH01017117;AY358713;BC012427;BC104638;CH236948;CH471073;NM_138771 AAH12427;AAI04639;AAQ89075;AAQ96871;BAF82600;EAL24252;EAW93792;EAW93793;EAW93794;EAW93795;EAW93796;NP_620126;Q96EE4 Hs.232296 1341384;1699434 D7S2463;RH103308 FLJ23031;MGC104248 OTTHUMP00000158577;OTTHUMP00000202196;OTTHUMP00000202197;alpha-1,3(6)-mannosylglycoprotein beta-1,6-N-acetyl-glucosaminyltransferase-like;coiled-coil domain-containing protein 126 protein-coding ENSG00000169193 22398 14278 VALIDATED 1605304 CCDC124 coiled-coil domain containing 124 19 19 19 p13.11 17945548 17956518 + 17906905 17915783 + 18043824 18054794 + 6480464 15489334;15342556;12477932;21145461;17207965;22863883;21139048;21903422 115098 M0R2F5;Q96CT7 ABBA01051237;AC005602;AC011540;AF086307;AMYH01009578;BC013949;BG829184;BM998230;BP309483;BQ669035;CH471106;DB503140;NM_001136203;NM_138442 AAH13949;ADQ32220;EAW84644;EAW84645;NP_001129675;NP_612451;Q96CT7 Hs.100043 1677468;1683225 RH46130;RH93753 coiled-coil domain-containing protein 124 protein-coding ENSG00000007080 25171 14008 VALIDATED 1350707 CCDC13 coiled-coil domain containing 13 3 3 3 p22.1 42690269 42755122 - 42724878 42789749 - 42749874 42814745 - 737633;6480464 12477932 15489334;8889548;20379614;23251661 152206 Q8IYE1;Q96LI1 ABBA01024763;AC006059;AC099329;AK058196;AK302859;AMYH01013115;BC036050;BM664398;CH471055;NM_144719 AAH36050;BAB71711;BAG64044;EAW64669;EAW64670;EAW64671;NP_653320;Q8IYE1 Hs.604182 1339056;2142757 D3S2304;D3S4039 FLJ25467 OTTHUMP00000164041;coiled-coil domain-containing protein 13 protein-coding ENSG00000244607 26358 08692 VALIDATED 1604967 CCDC129 coiled-coil domain containing 129 7 7 7 p14.3 31544550 31679665 + 31523503 31659828 + 31553685 31698334 + 6480464 14702039;12477932;20379614;16344560 223075 B8ZZ49;E7EQ43;E7ERG9;Q6ZRS4 AACC02000087;ABBA01056821;ABBA01056822;ABBA01056823;AC005090;AC006044;AK095663;AK128026;AK295011;AK304387;AMYH01017152;AMYH01017153;BC132719;DA098735;NM_001257967;NM_001257968;NM_194300;NR_047565 AAI32720;BAC87235;BAG53101;BAG58071;BAG65223;EAL24442;NP_001244896;NP_001244897;NP_919276;Q6ZRS4 Hs.224269 1338601;1696814;1711852;1717573;2182862 D7S474;D7S693;G49151;G49458;RH122091 FLJ38344 OTTHUMP00000158773;OTTHUMP00000197875;OTTHUMP00000202960;coiled-coil domain-containing protein 129 protein-coding ENSG00000180347 27363 14137 VALIDATED 1603363 CCDC127 coiled-coil domain containing 127 5 5 5 p15.33 304440 317859 - 257875 271297 - 204875 218297 - 6480464 15489334;15231748;14702039;12477932;17207965;21890473;21906983 133957 D6R9R2;Q96BQ5 ABBA01034262;ABBA01034263;AC021087;AK098567;AMYH01014821;BC015349;CH471235;NG_033064;NM_145265 AAH15349;ADQ31884;BAC05336;EAW50981;NP_660308;Q96BQ5 Hs.294145 FLJ25701 OTTHUMP00000220452;OTTHUMP00000220453;coiled-coil domain-containing protein 127 protein-coding 30520 14053 VALIDATED 1604584 CCDC130 coiled-coil domain containing 130 19 19 19 p13.2 13752540 13767891 + 13719753 13735106 + 13858753 13874106 + 6480464 12477932;16189514;3203696;17081983;15489334;14702039;16169070;17207965 81576 K7EJZ6;K7ELI4;K7EP29;K7EPA5;K7ES43;P13994 ABBA01029723;ABBA01029724;ABBA01029725;AC008686;AF250306;AK098262;AK293927;AMYH01009511;BC002905;CH471106;NM_030818;X13956 AAH02905;AAK37425;ADQ31796;BAG53603;BAH11628;CAA32138;EAW84367;EAW84368;NP_110445;P13994 Hs.24998 2157596 RH78312 MGC10471 9 kDa protein;coiled-coil domain-containing protein 130 protein-coding ENSG00000104957 28118 11304 PROVISIONAL 1626254 CCDC137P coiled-coil domain containing 137 pseudogene 3 3 3 p13 72066779 72067549 + 72218731 72219501 + 72136041 72136811 + 642802 ABBA01030943;AC105265;AMYH01013277;NG_009746 pseudo 33459 INFERRED 1604275 CCDC135 coiled-coil domain containing 135 16 16 16 q21 42224749 42262676 + 56286227 56322868 + 57728713 57765367 + 6480464 11256614;16344560;14702039;12477932;11230166;21289096 84229 H3BN79;H3BQY5;H3BRN2;H3BRR8;H3BRX1;H3BUK0;Q8IY82 ABBA01025278;ABBA01025279;ABBA01025280;ABBA01025281;AC018552;AK093035;AK093822;AK292558;AL136907;AMYH01007704;BC030661;BC036667;CH471092;DB095284;NM_032269 AAH36667;BAC04026;BAF85247;CAB66841;EAW82947;EAW82948;EAW82949;NP_115645;Q8IY82 Hs.513635 1675828;2191111 MARC_14789-14790:1010672522:1;RH98935 C16orf50;DKFZp434I099;FAP50 OTTHUMP00000164678;coiled-coil domain-containing protein 135;coiled-coil domain-containing protein lobo homolog protein-coding ENSG00000159625 25289 10902 VALIDATED 1604352 CCDC132 coiled-coil domain containing 132 7 7 7 q21.3 87566164 87692840 + 92699589 92826274 + 92861653 92990435 + 6480464 14702039;12853948;12690205;12477932;11347906;19913121;20628086;17207965;21472204;21906983 55610 B4DS55;C9JA29;F2Z3F0;F8WDT1;H0Y7Q2;H7BZP1;Q5JPD9;Q75N11;Q96JG6 AA724937;AACC02000014;AB058764;AB100163;ABBA01045792;ABBA01045793;ABBA01045794;AC002379;AC002453;AK000104;AK027234;AK055965;AK126478;AK299582;AL832393;AL833112;AMYH01017691;BC017888;BC035984;BC047757;BC108708;BC132740;BC132742;BC152424;BE671517;CB985373;CH236949;CH471091;NM_001257998;NM_017667;NM_024553 AAH17888;AAI08709;AAI32741;AAI32743;AAI52425;AAI60012;AAS02013;AAS02014;AAS02023;ADQ32145;BAA90948;BAB15701;BAB47490;BAG54334;BAG61517;BAI52922;CAI46135;EAL24143;EAW76815;EAW76816;EAW76817;EAW76818;EAW76819;EAW76820;EAW76821;NP_001244927;NP_060137;NP_078829;Q96JG6 Hs.202424 1338726;1667914;1671490;1696846;1703520;1759053;2132039;2187401;7186132 D7S652;G49167;GDB:1318432;RH44310;RH44982;RH48622;SHGC-150613;SHGC-82660 FLJ20097;FLJ23581;KIAA1861;MGC176659 OTTHUMP00000162526;OTTHUMP00000208668;coiled-coil domain-containing protein 132 protein-coding ENSG00000004766 25956 VALIDATED 1605621 CCDC134 coiled-coil domain containing 134 22 22 22 q13.2 26002745 26028378 + 40526624 40552249 + 42196678 42222306 + 6480464 18087676;16713569;15489334;15461802;14702039;12477932;10591208;21123754;16196087;21890473;22644376 79879 B0QY51;Q9H6E4 ABBA01055652;ABBA01055653;ABBA01055654;AK026002;AK299311;AL021453;AMYH01012804;BC017693;BX473493;CA420664;CH471095;CR456484;NM_024821 AAH17693;ADZ15807;BAB15315;BAG61322;CAG30370;EAW60468;NP_079097;Q9H6E4 Hs.474991 1661082;1711800 G49425;SHGC-36258 FLJ22349;MGC21013;dJ821D11.3 OTTHUMP00000199517;coiled-coil domain-containing protein 134 protein-coding ENSG00000100147 26185 07988 VALIDATED 1625086 CCDC137 coiled-coil domain containing 137 17 17 17 q25.3 76278678 76285854 + 77244166 77251342 + 79633761 79640937 + 6480464 17207965;12477932;16169070;21044950 339230 I3L0U5;I3L385;I3L4F6;Q6PK04 ABBA01032159;AC139530;AMYH01008718;BC009369;BC052272;BM548065;CH471099;FJ649645;NM_199287 AAH09369;ACX50616;ADQ32182;EAW89669;NP_954981;Q6PK04 Hs.744125 1697852;1780140 RH102453;SHGC-154444 MGC16597 coiled-coil domain-containing protein 137;hepatocellular carcinoma related protein 2 protein-coding ENSG00000185298 33451 614271 VALIDATED 1604321 CCDC136 coiled-coil domain containing 136 7 7 7 q33 123227853 123258698 + 128219335 128249419 + 128431464 128462187 + 6480464 15231747;16713569;15112360;14702039;12690205;12477932;11347906;20877624;17043677;21900206 64753 C9IYI5;C9J884;C9JAD8;C9JE17;C9JU31;H0Y876;H7C4R2;Q96JN2 AACC02000035;AB058696;ABBA01057655;AC024952;AC025594;AI611323;AK023500;AK124447;AL133027;AMYH01017924;BC070114;BC150331;BC152408;BX952188;CH236950;CH471070;DR003042;NM_001201372;NM_022742 AAI50332;AAI52409;BAB14590;BAB47422;BAC85854;CAB61359;EAL24111;EAW83681;EAW83682;EAW83683;EAW83684;EAW83685;EAW83686;EAW83687;EAW83688;NP_001188301;NP_073579;Q96JN2 Hs.521178 1773142;2139024;5125569 D7S2100E;GDB:4585443;RH66361 DKFZp434G156;MGC129657;MGC176632;NAG6 OTTHUMP00000212772;OTTHUMP00000212773;OTTHUMP00000212774;OTTHUMP00000212775;OTTHUMP00000212776;coiled-coil domain-containing protein 136;nasopharyngeal carcinoma-associated gene 6 protein protein-coding ENSG00000128596 22225 10887 611902 VALIDATED 1348740 CCDC14 coiled-coil domain containing 14 3 3 3 q21.1 122039702 122087793 - 125115257 125158620 - 123632269 123680255 - 737633;6480464 12477932 15342556;16713569;16344560;16189514;15146197;14702039;19615732;20936779;21832049;19322201;15840729;17043677;21987572;21139048;21906983;22505724 64770 C9J6B5;C9JSI8;C9JU82;C9JWZ1;H3BM06;H7C2U5;H7C5T3;J3QT39;Q8WUJ8 AA743688;ABBA01016447;ABBA01016448;AC117381;AF086562;AI435151;AK022954;AK027607;AK123060;AK294979;AK295091;AK307847;AL122079;AL833312;AMYH01013435;BC020246;BC040285;BC042613;BG621278;BP213762;BP382977;BX537652;CH471052;CN424790;DA031063;DB037501;DB306263;DB471090;NM_022757 AAH20246;AAH40285;AAH42613;BAB14329;BAB55229;BAH11939;BAH11968;CAB59254;CAD91162;CAD97804;EAW79429;EAW79430;EAW79431;EAW79432;EAW79433;EAW79434;NP_073594;Q49A88 Hs.645028 1335827;2145008;2184248 A006P02;D3S3519;SHGC-77280 DKFZp434L1050;FLJ12892;FLJ41065 OTTHUMP00000202862;OTTHUMP00000202863;OTTHUMP00000202864;OTTHUMP00000215968;OTTHUMP00000215969;coiled-coil domain-containing protein 14 protein-coding ENSG00000175455 25766 07801 VALIDATED 1606113 CCDC141 coiled-coil domain containing 141 2 2 2 q31.2 173288863 173509183 - 179408737 179457923 - 179694484 179914786 - 6480464 12812986;14702039;12477932;19536175;20956536;22505724 285025 B8ZZB3;C9JR62;E7ERF0;H7C0P1;J3KNW6;Q6ZP82 ABBA01062248;ABBA01062249;ABBA01062250;ABBA01062251;ABBA01062252;ABBA01062253;AC023270;AC092640;AC093792;AK096821;AK129847;AL832777;AMYH01011308;BC087856;BC108697;BC115378;BX649042;CH471058;NM_173648 AAI08698;AAI15379;AAX88845;BAC04869;BAC85242;EAX11011;EAX11012;NP_775919;Q6ZP82 Hs.324341 1659674;1763343 D2S2804;SHGC-147067 CAMDI;DKFZp686G197;FLJ26337;FLJ39502;MGC134803 OTTHUMP00000205978;coiled-coil domain-containing protein 141;coiled-coil protein associated with myosin II and DISC1 protein-coding ENSG00000163492 26821 08257 PROVISIONAL 1602834 CCDC140 coiled-coil domain containing 140 This gene encodes a protein that appears to be restricted to select higher primate species. This protein contains a C-terminal coiled-coil domain, which is a versatile structural motif consisting of multiple amphipathic alpha-helices that twist around each other to form a supercoil. [provided by RefSeq, Aug 2011] 2 2 2 q36.1 216930889 216937943 + 222871110 222878180 + 223162866 223169936 + 6480464 14702039;12477932;11166216;14760737;9138288 151278 C9K0E1;Q96MF4 ABBA01023816;AC010980;AK057009;AMYH01011515;BC109388;CH471063;NG_021186;NM_153038 AAI09389;AAY14901;BAB71341;EAW70798;NP_694583;Q96MF4 Hs.350729 1741981;1745265;1745375 GDB:187424;GDB:596326;GDB:603639 FLJ32447;MGC133159 OTTHUMP00000164204;OTTHUMP00000203835;coiled-coil domain-containing protein 140 APPROVED protein-coding ENSG00000163081 26514 08132 VALIDATED 1603550 CCDC138 coiled-coil domain containing 138 2 2 2 q12.3 103713196 103802791 + 108769651 108859279 + 109403219 109492847 + 6480464 12477932;14702039;22118674;21139048;21890473;21906983;17203973;22505724;22797925 165055 F8WF51;H7BZ08;H7C005;Q96M89 ABBA01000764;ABBA01000765;AC010095;AC073415;AK057307;AK125199;AMYH01010857;BC015847;BC038421;BC050579;CH471182;NM_144978 AAH15847;AAH50579;AAX88855;AAY14985;BAB71420;BAC86081;EAW53870;EAW53871;EAW53872;EAW53873;NP_659415;Q96M89 Hs.731709 1673898;1683016;1857034;2114074;2132738 AB070186;RH70637;RH78999;RH79061;RH98799 FLJ32745 OTTHUMP00000161605;OTTHUMP00000203903;coiled-coil domain-containing protein 138 protein-coding ENSG00000163006 26531 08136 PROVISIONAL 1626599 CCDC144A coiled-coil domain containing 144A 17 17 17 p11.2 16496531 16496950 + 16534364 16619036 + 16593639 16678311 + 6480464 12477932;11997339;9628581 9720 A2RUR9;A6NG92;A6NJB5;C9JAY6;C9JT67 AB011137;ABBA01001825;ABBA01035645;ABBA01035646;ABBA01035647;AC098850;AK125971;AMYH01008152;BC034617;BC133019;BC144224;BC144225;NM_014695 A2RUR9;AAI33020;AAI44225;AAI44226;BAA25491;BAC86369;NP_055510 Hs.419859 2133142;2183911 G16511;SHGC-64094 FLJ43983;KIAA0565;MGC164650 OTTHUMP00000065240;coiled-coil domain-containing protein 144A protein-coding ENSG00000170160 29072 PROVISIONAL 7241943 CCDC147-AS1 CCDC147 antisense RNA 1 (head to head) 100505869 ABBA01063087;AL162742;AMYH01003034;XR_110454;XR_111118;XR_171868 Hs.338140 miscrna 45243 MODEL 1606203 CCDC142 coiled-coil domain containing 142 2 2 2 p13.1 74531147 74541522 - 74554737 74563631 - 74699959 74710357 - 6480464 16303743;14702039;12477932;8889548;21790010 84865 H7C450;Q17RM4 ABBA01075602;AC005041;AK027303;AK075543;AMYH01010454;BC117269;BC143398;BC143399;CH471053;CS051387;NM_032779 AAI17270;AAI43399;ADR83249;BAC11686;CAI72188;EAW99650;NP_116168;Q17RM4 Hs.430199 5014740;5015404;5015619;5015961;5016478;5020946;5022322;5022578;5024413;5037552;5109281 D11S2560;D11S3114;D15S1477;D17S610;D1S1423;D1S1425;D8S2279;GDB:434012;L17705;L17877;L17971 FLJ14397;FLJ90728 OTTHUMP00000160422;OTTHUMP00000202625;OTTHUMP00000202626;coiled-coil domain-containing protein 142 protein-coding 25889 08598 VALIDATED 1605248 CCDC144B coiled-coil domain containing 144B (pseudogene) 17 17 p11.2 18427447 18469570 - 18441114 18528930 - 6480464 14702039;12477932;11997339;16344560 284047 Q3MJ40 ABBA01001018;ABBA01003918;ABBA01013324;AC026271;AC107983;AK093811;AMYH01008175;AMYH01008176;BC062767;BC101585;BC104815;BC143561;BX647826;DB113689;EF553518;NR_036647 AAH62767;AAI01586;AAI04816;AAI43562;ABQ66264;Q3MJ40 Hs.419859;Hs.448012 5095864;5114870 D17S1980;SHGC-57390 FLJ36492;MGC126634 coiled-coil domain-containing protein 144B APPROVED pseudo ENSG00000154874 26704 08777 PROVISIONAL 1626596 CCDC144CP coiled-coil domain containing 144C, pseudogene 17 p11.2 20224487 20305504 + 16344560;12477932;11997339 348254 Q8IYA2 ABBA01054581;ABBA01054582;AC008088;AC015818;AK295707;AL162090;AL162091;AMYH01008239;BC036241;DA321951;DV080283;DV080284;NR_023380 BAG58553 Hs.743689 2183911;5015861;5037552;7185938 D10S16;D8S2279;SHGC-64094 CCDC144C;KIAA0565 APPROVED pseudo 29073 PROVISIONAL 1603856 CCDC144NL coiled-coil domain containing 144 family, N-terminal like 17 17 17 p11.2 21742454 21775198 + 20707300 20740045 - 20766708 20799453 - 6480464 12477932;21832049 339184 Q6NUI1 ABBA01050452;AC090774;AMYH01008265;BC068597;NM_001004306 AAH68597;NP_001004306;Q6NUI1 Hs.674830 1788246 D7S3105 MGC87631 OTTHUMP00000163109;putative coiled-coil domain-containing protein 144 N-terminal-like protein-coding ENSG00000205212 33735 17572 PROVISIONAL 6766595 CCDC148-AS1 CCDC148 antisense RNA 1 2 q24.1 159023162 159092681 + 12477932 554201 Q4ZG13 ABBA01004850;AC069146;AMYH01011201;BC021739;NR_038850 AAX88932 Hs.570262 APPROVED miscrna ENSG00000227480 44134 VALIDATED 1604533 CCDC148 coiled-coil domain containing 148 2 2 2 q24.1 152644608 152930040 - 158736724 159021460 - 159027869 159313265 - 6480464 19401682;14702039;12477932;16344560;20379614;21297076 130940 B8ZZV3;F8WBK8;F8WC92;F8WCV9;F8WCW7;Q96BN5 ABBA01004850;AC008070;AC019044;AC069146;AF458588;AK058105;AK123220;AK308783;AK309246;AK311042;AMYH01011201;AMYH01011202;BC015395;BC031994;BC105928;BC107596;BC107597;CH471058;DA230063;NM_001171637;NM_138803 AAH15395;AAI05929;AAI07597;AAI07598;AAM49716;AAX88933;AAX88983;AAY14928;BAB71668;EAX11434;EAX11435;NP_001165108;NP_620158;Q8NFR7 Hs.668597 1646122;1696784;1728953;1784114;1856924 D10Bir6;D2S2686;RH78496;SHGC-153856;SHGC-79818 MGC125588;MGC125590 OTTHUMP00000204753;OTTHUMP00000204759;coiled-coil domain-containing protein 148 protein-coding ENSG00000153237 25191 14046 VALIDATED 1605975 CCDC146 coiled-coil domain containing 146 7 7 7 q11.23 71497691 71625151 + 76589870 76762457 + 76751934 76924521 + 6480464 20935630;21145461;16344560;14702039;12477932;10819331;20379614;22952603 57639 C9JRR4;Q8IYE0;Q96MS1 AB040938;ABBA01058000;ABBA01058001;ABBA01058002;AC007000;AC073635;AC098851;AF461817;AK056542;AK292491;AMYH01017625;BC029458;BC036053;BX649000;CH471091;DB099681;HM370402;NM_020879;XM_003960933;XM_003960934 AAH29458;AAH36053;AAP97709;BAA96029;BAB71211;BAF85180;EAW77041;EAW77042;EAW77043;EAW77044;NP_065930;Q8IYE0;XP_003960982;XP_003960983 Hs.113940 1691162;1718413;1786356;1851320;1855668;2133708;2134752;2142340;2154119;2159953;2178080;2182954;5014051;5022200;5037552;5093722 A009V32;D7S2907;D8S2278;D8S2279;G32885;L18426;RH122407;RH17500;RH79020;RH99096;SGC34766;SHGC-156234;STS-F04943;STS-R61236;STS-Z36531;WI-21151 KIAA1505 OTTHUMP00000208568;coiled-coil domain-containing protein 146 protein-coding ENSG00000135205 29296 11150 VALIDATED 1317458 CCDC147 coiled-coil domain containing 147 10 10 10 q25.1 99854331 99955667 + 106103512 106204838 + 106113522 106214848 + 15489334;15164054;14702039;12477932;21145461;20811636;21832049 159686 Q5T655;Q9H4Y4 ABBA01063087;AK093227;AK296463;AL162742;AL355378;AMYH01003034;BC036225;BC109126;BX641120;CH471066;NM_001008723 AAH36225;AAI09127;BAC04102;BAG59109;EAW49593;EAW49594;EAW49595;NP_001008723;Q5T655 Hs.253576 1342307;1758931;7186191;7186663 D10S540;SHGC-151024 C10orf80;FLJ35908;MGC126475;RP11-554P13.1;bA127L20.4;bA127L20.5;bA554P13.1 OTTHUMP00000020442;bA127L20.4 (novel protein);bA127L20.5 (novel protein);coiled-coil domain-containing protein 147 protein-coding ENSG00000120051 26676 16583 VALIDATED 1605034 CCDC15 coiled-coil domain containing 15 11 11 11 q24.2 121984158 122071427 + 124329227 124416595 + 124824017 124911385 + 6480464 14702039;12477932;20379614;21832049;21890473 80071 E9PKB1;Q0P6D6 ABBA01031248;AK023277;AMYH01004104;AP003501;AW339835;BC018540;BU569785;CH471065;DB516555;NM_025004 AAH18540;BAB14504;EAW67617;EAW67618;NP_079280;Q0P6D6 Hs.287555 1740817;1748807;1782440;2066372;2156986;2183507 D11S1041;D11S1147;D11S4443;REN104373;SHGC-110431;SHGC-155035 FLJ13215 OTTHUMP00000231542;OTTHUMP00000231543;coiled-coil domain-containing protein 15 protein-coding ENSG00000149548 25798 07820 VALIDATED 1606406 CCDC150 coiled-coil domain containing 150 2 2 2 q33.1 191260248 191353407 + 197212601 197305775 + 197504356 197597530 + 6480464 12477932;14702039 284992 B4DRE1;B4DZ03;B4E060;B8ZZI4;E9PCV3;F8WCU1;Q8NCX0 ABBA01062460;ABBA01062461;AC068544;AK001064;AK096130;AK096979;AK125768;AK299214;AK301665;AK302685;AK303236;AK309349;AL834537;AMYH01011384;BC062449;BC062658;CH471063;HC006922;NM_001080539 AAH62449;AAH62658;AAY14905;BAC04706;BAC04920;BAG61253;BAG63139;BAG63915;BAG64322;CAD39193;CBH19266;EAW70131;NP_001074008;Q8NCX0 Hs.132519 1341683;5015881;5020740;5037552;7185494 D2S311;D8S2279;GDB:335751;L17809 DKFZp434P055;FLJ10202;FLJ38811;FLJ39660;MGC72171 OTTHUMP00000205761;coiled-coil domain-containing protein 150 protein-coding ENSG00000144395 26834 08264;08537 PROVISIONAL 2298815 CCDC152 coiled-coil domain containing 152 5 5 5 p12 42646453 42692073 + 42765152 42838296 + 42756920 42802539 + 6480464 12477932;15809229 100129792 B4E0P7;Q4G0S7 ABBA01024242;AC008945;AC113368;AK127368;AK303469;AMYH01015053;AY947526;BC015985;BC039102;CH471119;DB450032;DB515085;NM_001134848 AAH39102;AAX21787;BAG54496;BAG64509;EAW56024;EAW56025;NP_001128320;Q4G0S7 Hs.275775 1682870;1764571;1768235;1772844;1856704;2121104;2134582;2134584;2139739;2186663;5092784 A006E08;D5S1857;D5S2379;G09819;G32328;HUM000AA35;HUM00D2F10;RH78323;SHGC-148164;SHGC-14908;STS-Z11793 CH5400 OTTHUMP00000221372;OTTHUMP00000221373;coiled-coil domain-containing protein 152 protein-coding ENSG00000198865 34438 VALIDATED 1606995 CCDC149 coiled-coil domain containing 149 4 4 4 p15.2 25257207 25430723 - 24437679 24590924 - 24807739 24981826 - 6480464 17457313;16344560;12477932;14702039;18482256;20379614;8889548;21832049;21139048;19850743 91050 Q6ZUS6 ABBA01032684;ABBA01032685;ABBA01032686;ABBA01032687;ABBA01032688;ABBA01032689;AC006390;AC113614;AC116422;AF086111;AK023472;AK125353;AK296454;AK302905;AL834257;AMYH01014065;BC057761;BC067735;CB243678;CH471069;DA950851;DB244172;DC422585;DR423861;NM_001130726;NM_173463 AAH57761;AAH67735;BAC86142;BAG59102;BAG64075;CAD38932;EAW92824;EAW92825;EAW92826;NP_001124198;NP_775734;Q6ZUS6 Hs.106432 1339837;1341345;1683207;1697730;1700056;1756031;1850688;1855104 D4S1110;D4S2911;D4S3052;RH102387;RH103641;SHGC-142844;SHGC-67338;SHGC-67371 DKFZp761B107;FLJ13410 OTTHUMP00000217986;OTTHUMP00000217987;coiled-coil domain-containing protein 149 protein-coding ENSG00000181982 25405 10908 VALIDATED 1603185 CCDC151 coiled-coil domain containing 151 19 19 19 p13.2 11426123 11440715 - 11392272 11406980 - 11531272 11545980 - 6480464 16344560;14702039;12477932 115948 A5D8V7;B3KPH7;B4DXT0;K7EN59;K7EPB4;K7EPK8 ABBA01029855;ABBA01029856;AC024575;AK056363;AK294355;AK302113;AK308072;AMYH01009485;BC014252;BC036041;BC050355;BC141828;BC142637;BC144421;BI548500;CH471106;DB040667;NM_145045 A5D8V7;AAH14252;AAI41829;AAI42638;AAI44422;BAG51689;BAG57620;BAG63492;EAW84213;EAW84214;NP_659482 Hs.124010 1697172 RH102074 FLJ31801;MGC20983 coiled-coil domain-containing protein 151;hypothetical protein mgc20983 protein-coding ENSG00000198003 28303 10076 VALIDATED 1604184 CCDC153 coiled-coil domain containing 153 11 11 q23.3 118566189 118569381 - 119060963 119066584 - 6480464 12477932 283152 Q494R4 AA782908;AA909102;ABBA01039677;AMYH01004080;AP002956;BC043548;BC101443;BC101444;BC101986;CH471065;NM_001145018 AAI01444;AAI01445;AAI01987;EAW67475;NP_001138490;Q494R4 Hs.114777 1682157;1779048 RH48721;RH79602 MGC125447;MGC125448 OTTHUMP00000232150;coiled-coil domain-containing protein 153 protein-coding ENSG00000248712 27446 18762 VALIDATED 2299193 CCDC154 coiled-coil domain containing 154 16 16 16 p13.3 1696988 1707090 - 1423396 1434858 - 1484389 1494490 - 12477932;22895184 645811 A6NI56;B7ZBA8;H3BS06 ABBA01030306;AL031600;AL032819;AL137252;AMYH01007035;BC061641;JN935901;NM_001143980 A6NI56;AEW67365;NP_001137452 Hs.355232 1698850;2146001;2146003 A005U10;RH102989;RH12098 C16orf29 OTTHUMP00000205075;coiled-coil domain-containing protein 154 protein-coding ENSG00000197599 34454 PROVISIONAL 1604878 CCDC157 coiled-coil domain containing 157 22 22 22 q12.2 14552315 14572502 + 29083036 29102818 + 30752627 30772818 + 6480464 16344560;12477932 550631 A8MUK5;E7ETG3;E7EWT0;Q569K6 ABBA01055293;AC004997;AMYH01012705;BC018040;BC092419;BC119799;BC127255;CR936833;DA647196;DB636414;NM_001017437 AAH92419;AAI19800;AAI27256;NP_001017437;Q569K6 Hs.505597 5015619;5015861;5015959;5037552;7185938 D10S16;D10S2448;D11S3114;D8S2279 OTTHUMP00000198929;coiled-coil domain-containing protein 157 protein-coding ENSG00000187860 33854 18686 VALIDATED 1602411 CCDC158 coiled-coil domain containing 158 4 4 4 q21.1 74534331 74628604 - 77453216 77547482 - 77234192 77328458 - 6480464 16189514;12477932;11752456;20383146 339965 Q5M9N0 ABBA01063358;ABBA01063359;ABBA01063360;AC034139;AC096743;AK098600;AK098636;AL832445;AMYH01014313;AMYH01014314;AV658624;BC035224;BC086869;CH471057;NM_001042784 AAH86869;AAI56682;BAC05347;BAC05359;EAX05788;EAX05789;EAX05790;EAX05791;EAX05792;NP_001036249;Q5M9N0 Hs.529680 1653815;1662243;1698172;1772419;2136200;2171966;2183463;5015619;5022578;5022649;5037552 D11S2875;D11S3114;D1S1423;D4S1198;D4S888;D8S2279;G34360;RH102622;SHGC-50351;SHGC-51009;SHGC-59559 FLJ25770;MGC35086 OTTHUMP00000219171;coiled-coil domain-containing protein 158 protein-coding ENSG00000163749 26374 13395 VALIDATED 5134207 CCDC166 coiled-coil domain containing 166 8 8 8 q24.3 141099710 141101175 - 144860852 144862267 - 144788864 144790279 - 6480464 100130274 H0YF60;P0CW27 ABBA01005243;AC105219;AMYH01019111;CH471162;NM_001162914 EAW82208;NP_001156386;P0CW27 Hs.730002 OTTHUMP00000228638;coiled-coil domain containing 121-like;coiled-coil domain-containing protein 166 protein-coding ENSG00000255181 41910 VALIDATED 1602065 CCDC155 coiled-coil domain containing 155 19 19 19 q13.33 46759093 46788876 + 54583318 54613058 + 49891475 49921256 + 6480464 12477932;11441184;16189514;14702039;16344560;16751776;18029348;22826121 147872 M0QX09;M0QXT3;M0QXW9;M0QZT9;M0QZW6;M0R1C7;Q8N6L0 ABBA01032930;AC010619;AC010643;AK057220;AK097696;AMYH01009912;BC029811;CH471177;DB024870;DB517121;NM_144688 AAH29811;BAB71384;EAW52476;EAW52477;EAW52478;NP_653289;Q8N6L0 Hs.662085 1675435;1700992;1783526;5105879 RH104123;RH92075;SHGC-151229;SHGC-152437 DKFZp434A2223;FLJ32658;KASH5 KASH domain-containing protein 5;coiled-coil domain-containing protein 155;protein KASH5 protein-coding ENSG00000161609 26520 08134 VALIDATED 3379453 CCDC160 coiled-coil domain containing 160 X X X q26.2 133757928 133766658 + 133198743 133207474 + 133371077 133379808 + 6480464 12477932;15772651 347475 A6NGH7 ABBA01042413;ABBA01042414;ABBA01042415;AC004409;AMYH01022992;BC017958;CH471107;NM_001101357 A6NGH7;EAX11768;NP_001094827 Hs.679431 UPF0625 coiled-coil domain-containing protein ENSP00000359845;coiled-coil domain-containing protein 160 protein-coding ENSG00000203952 37286 PROVISIONAL 5013869 CCDC169-SOHLH2 CCDC169-SOHLH2 readthrough This locus represents naturally occurring read-through transcription between the neighboring C13orf38 (chromosome 13 open reading frame 38) and SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010] 13 q 36742345 36871992 - 20967262;22566634 100526761 Q9NX45 ABBA01021361;ABBA01021362;ABBA01021363;AK301863;AL139377;AL160392;AMYH01005038;NM_001198910 BAG63302;NP_001185839 Hs.124519 C13orf38-SOHLH2;FLJ57222;KIAA0369;KIAA0610 C13orf38-SOHLH2 fusion protein;CCDC169-SOHLH2 protein;OTTHUMP00000221747;OTTHUMP00000235376 APPROVED protein-coding ENSG00000120669;ENSG00000250709 38866 VALIDATED 4109693 CCDC168 coiled-coil domain containing 168 13 13 q33.1 84226147 84255852 - 103381717 103411422 - 21145461;11181995;14702039;15057823;21906983 643677 Q8NDH2 ABBA01027070;AK097495;AK125984;AL157769;AL833499;AL833908;AMYH01005341;CH471085;NM_001146197 BAC05076;CAD38764;EAX09063;NP_001139669;Q8NDH2 Hs.368382 1710248;1782982;2189967 99-24605;SHGC-81772;SHGC-85214 C13orf40;DKFZp434L2319;DKFZp686P1429;FLJ40176;FLJ43996 coiled-coil domain containing 168;coiled-coil domain-containing protein 168;hypothetical protein LOC643677 APPROVED protein-coding 26851 PROVISIONAL 3441755 CCDC163P coiled-coil domain containing 163, pseudogene 1 1 1 p34.1 44242920 44249842 - 45733168 45738233 - 45959598 45965751 - 6480464 12477932;14702039;18672041 126661 B4DV03;E9PLD6;E9PN01;E9PNU9;E9PPK7;F2Z3K3 ABBA01050870;AK054714;AK300867;AL451136;AMYH01000573;AMYH01000574;BC036618;BC047421;BC101254;BC101255;BC101256;BC101257;BC113060;BC113061;CH471059;NR_033296;NR_033297;NR_033298 BAG62515;EAX06985 Hs.461300 1850935;2153347;5037552 D8S2279;HUM000S162;RH47166 C1orf231 pseudo ENSG00000236624 27003 VALIDATED 1344430 CCDC162P coiled-coil domain containing 162, pseudogene 6 6 6 q21 110362092 110376014 + 109735080 109782959 + 109615506 109629423 + 6480464 12477932;11181995;14574404;15489334;19862010;20139978;23222517 221262 A2VCL2 ABBA01026128;AL359711;AMYH01016582;AX938506;AX957256;BC107113;BC107114;BC128118;BC128119;CH471051;NR_028595 A2VCL2;AAI07114;AAI28119;CAF04364;CAF05609;EAW48356;EAW48357 Hs.373914;Hs.723571 2145752;2150052 G35691;STS-T97500 C6orf184;C6orf185;CCDC162;MGC129804;MGC149201;bA425D10.3;bA425D10.7 APPROVED pseudo ENSG00000203799 21565 PROVISIONAL 3566767 CCDC159 coiled-coil domain containing 159 19 19 19 p13.2 11352055 11360494 + 11318334 11327053 + 11457181 11465620 + 11181995;12477932;15057824;15489334;8889548;16713569 126075 K7EJK8;K7EKC7;K7EKR4;K7EKU9;K7EN56;K7ENC2;K7EPH8;P0C7I6 ABBA01029860;AC024575;AK127284;AK293611;AK301653;AK303641;AK316339;AMYH01009483;BC038439;CA848583;CB241007;CH471106;DC416232;NM_001080503 BAG57074;BAG63130;BAG64645;BAH14710;EAW84198;EAW84199;NP_001073972;P0C7I6 Hs.631636 5022322;5022578;5024039;5037552;5109281;5124558 D11S2560;D16S325;D1S1423;D1S1425;D8S2279;RH98197 FLJ45351;FLJ79238 coiled-coil domain-containing protein 159;coiled-coil domain-containing-like protein-coding ENSG00000183401 26996 VALIDATED 1346141 CCDC172 coiled-coil domain containing 172 10 10 10 q25.3 111813149 111868738 + 118073930 118129531 + 118083940 118139541 + 737633 12477932 20379614;17207965 374355 P0C7W6 ABBA01062959;AC011328;AJ457798;AMYH01003095;BC044830;CH471066;NM_198515 AAH44830;ADQ33001;EAW49454;EAW49455;NP_940917;P0C7W6 Hs.233407 1678535;1703474 RH67627;SHGC-82584 C10orf96;MGC35062 OTTHUMP00000020562;UPF0628 protein C10orf96;coiled-coil domain-containing protein 172;hypothetical protein LOC374355 APPROVED protein-coding ENSG00000182645 30524 18604 VALIDATED 1352845 CCDC167 coiled-coil domain containing 167 6 6 6 p21.2 39005680 39022691 - 37558674 37575678 - 37450696 37467700 - 6480464 16344560;12477932;19204726;19734545 154467 Q5T7F6;Q9P0B6 ABBA01038285;AF161383;AL353597;AMYH01016282;BC003515;BC104835;BC108655;BE907609;CH471081;DA152306;NM_138493 AAF28943;AAH03515;AAI04836;AAI08656;EAX03947;NP_612502;Q9P0B6 Hs.284207 1755107;2175405;2184874 RH78051;SHGC-142037;SHGC-54168 C6orf129;HSPC265;MGC131656 OTTHUMP00000016329;OTTHUMP00000016330;coiled-coil domain-containing protein 167;transmembrane and coiled-coil domain-containing protein C6orf129 APPROVED protein-coding ENSG00000198937 21239 18561 VALIDATED 2302126 CCDC169 coiled-coil domain containing 169 13 13 13 q13.3 17868356 17939180 - 35699176 35769948 - 36801179 36871992 - 14702039;12477932;11181995 728591 A6NNP5;E9PBZ7 AA861917;ABBA01021361;ABBA01021362;AK023568;AK131058;AK308999;AL139377;AMYH01005038;BC013944;BC037403;BC146975;BC171867;BC171872;BC171874;BC171880;BC171881;BC171882;BC171884;CH471075;DB454585;DN999189;NM_001144981;NM_001144982;NM_001144983;NM_001144984;NM_001144985;NM_001144986;NM_001198908 A6NNP5;AAI46976;AAI71867;AAI71872;AAI71874;AAI71880;AAI71881;AAI71882;AAI71884;EAX08553;EAX08557;NP_001138453;NP_001138454;NP_001138455;NP_001138456;NP_001138457;NP_001138458;NP_001185837 Hs.656745;Hs.730899 2117367 SHGC-56606 C13orf38;FLJ13506;FLJ29024;FLJ57222 OTTHUMP00000018256;OTTHUMP00000018257;OTTHUMP00000221741;OTTHUMP00000221742;OTTHUMP00000221743;OTTHUMP00000221744;OTTHUMP00000221745;OTTHUMP00000221746;RP11-251J8.1;coiled-coil domain-containing protein 169;hypothetical protein LOC728591 APPROVED protein-coding ENSG00000242715 34361 VALIDATED 1348779 CCDC171 coiled-coil domain containing 171 9 9 9 p22.3 15486980 15899187 + 15543097 15961897 + 15553097 15971897 + 737633;6480464 12477932 15489334;15164053;14702039;20379614 203238 H0Y5M5;H0Y701;Q6TFL3;Q7Z3F8 ABBA01065262;ABBA01065263;ABBA01065264;ABBA01065265;ABBA01065266;ABBA01065267;ABBA01065268;ABBA01065269;ABBA01065270;ABBA01065271;ABBA01065272;ABBA01065273;ABBA01065274;ABBA01065275;AF440401;AK094506;AK096586;AK128581;AK308284;AL359877;AL513423;AL592153;AL662788;AL832443;AMYH01019249;AMYH01019250;AMYH01019251;AMYH01019252;AMYH01019253;AY422473;BC026063;BC040738;BC064849;BC144214;BC150600;BX537933;CH471071;CR936775;NM_173550 AAH26063;AAH64849;AAI44215;AAI50601;AAM20913;AAR13704;BAC04370;BAC04823;BAC87511;CAD97907;CAH10655;EAW58674;NP_775821;Q6TFL3 Hs.17267 1648200;1652318;1700294;1700720;1723803;1750953;2115017;2125925;2172351 RH103766;RH103985;RH118639;SHGC-104806;SHGC-14223;SHGC-18062;STS-N22831;STS-N25982;WI-16839 C9orf93;DKFZp686P12113;FLJ39267;FLJ46740;MGC50805;bA536D16.1;bA778P13.1 OTTHUMP00000021073;coiled-coil domain-containing protein 171;hypothetical protein LOC203238;myosin tail domain containing protein;uncharacterized protein C9orf93 APPROVED protein-coding ENSG00000164989 29828 10805 PROVISIONAL 1348248 CCDC174 coiled-coil domain containing 174 3 3 3 p25.1 14631500 14652414 + 14668257 14689170 + 14693253 14714166 + 737633;6480464 12477932 16189514;15489334;15342556;14702039;11042152;20379614 51244 Q6PII3 ABBA01025154;AC090952;AF151046;AI797763;AK091158;AK309525;AMYH01012996;BC005199;BC013999;BC033897;BF698254;BP195134;CH471055;NM_016474 AAF36132;AAH13999;AAH33897;EAW64203;NP_057558;Q6PII3 Hs.517820 1665426;1688255;1698138;1721575;2127708;2146930;2162814;2168378;5019655;5111218 D3S3898;G32358;G59797;RH102602;RH44671;RH48289;RH67044;SHGC-56876;STS-N41059;WI-11333 C3orf19;FLJ33839 OTTHUMP00000160274;OTTHUMP00000208217;coiled-coil domain-containing protein 174;hypothetical protein LOC51244;uncharacterized protein C3orf19 APPROVED protein-coding ENSG00000154781 28033 12820 VALIDATED 7205404 CCDC179 coiled-coil domain containing 179 11 p14.2 22868468 22881972 - 100500938 H3BU77 ABBA01061014;AC006299;AI651461;AMYH01003438;AMYH01003439;NM_001195637 H3BU77;NP_001182566 Hs.555029 coiled-coil domain-containing protein 179;uncharacterized protein LOC100500938 protein-coding ENSG00000255359 44653 VALIDATED 1603565 CCDC17 coiled-coil domain containing 17 1 1 1 p34.1 44369706 44373721 - 45858303 45862260 - 46085716 46089731 - 6480464 14702039;12477932;16169070;8889548 149483 F2Z395;F8W7G4;J3KNU3;Q96LX7 ABBA01050862;AK057646;AK298104;AK303939;AK310879;AL355480;AMYH01000574;BC029888;BC065201;BC110988;BC128177;BC128178;BU677500;CH471059;DC359257;DC414623;NM_001114938;NM_001190182 AAH29888;AAI28178;AAI28179;BAB71539;BAG60389;BAG64867;EAX06961;EAX06962;EAX06963;NP_001108410;NP_001177111;Q96LX7 Hs.18912 1769591;2138334 SHGC-74701;SHGC-74703 FLJ17921;FLJ33084;RP4-697E16.4 OTTHUMP00000009505;OTTHUMP00000009506;OTTHUMP00000231397;OTTHUMP00000231398;coiled-coil domain-containing protein 17 protein-coding ENSG00000159588 26574 08155 VALIDATED 2298833 CCDC173 coiled-coil domain containing 173 2 2 2 q31.1 164120771 164169738 - 170210181 170259177 - 170501935 170550931 - 6480464 12477932;8889548;20379614 129881 B4DX81;C9J9F8;C9JQ25;Q0VFZ6 ABBA01014891;ABBA01014892;AC016772;AK301851;AMYH01011249;BC015980;BC065905;BC117445;BQ432665;CB250451;CH471058;NM_001085447 AAH15980;AAI17446;BAG63293;EAX11265;NP_001078916;Q0VFZ6 Hs.370111 1675009;2169994 A004Q48;SHGC-31767 C2orf77 OTTHUMP00000205101;coiled-coil domain-containing protein 173;hypothetical protein LOC129881;uncharacterized protein C2orf77 APPROVED protein-coding ENSG00000154479 25064 VALIDATED 1322133 CCDC170 coiled-coil domain containing 170 The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010] 6 6 6 q25.1 152549039 152676191 + 151856920 151984021 + 151815175 151942328 + 6480464 19079262;18445777;16344560;15489334;14702039;14574404;12477932;8889548;8125298;19801982;20200978;20453838;20661439;21263130;21540461;22145905;22504420;23437003 80129 Q8IYT3 ABBA01025633;ABBA01025634;ABBA01025635;AK026958;AK027300;AK225330;AL359494;AL590543;AMYH01016746;BC035003;BC060803;BI562667;BM677624;BM984518;BQ706948;CB306458;CH471051;DB232703;NG_021198;NM_025059 AAH60803;BAB15602;BAB55025;EAW47743;NP_079335;Q8IYT3 Hs.660044 1655320;1658212;1659355;2124421;5015959;5024543 D10S2448;D1S3690;D6S1255;D6S1305;RH35682;RH65963 C6orf97;FLJ23305;bA282P11.1 OTTHUMP00000017435;coiled-coil domain-containing protein 170;coiled-coil domain-containing protein C6orf97;hypothetical protein LOC80129 APPROVED protein-coding ENSG00000120262 21177 10797 VALIDATED 1354013 CCDC177 coiled-coil domain containing 177 14 14 14 q24.1 50100643 50102030 - 69107236 69107841 - 70036531 70041600 - 6480464 15489334;12477932 56936 Q9NQR7 ABBA01030826;AF284217;AK312175;AL133445;AMYH01005825;BC105025;BC105027;CH471061;NM_001271507 AAF86288;BAG35108;EAW80999;NP_001258436;Q9NQR7 Hs.458319 2220674 UniSTS:490166 C14orf162;PLPL coiled-coil domain-containing protein 177;myelin proteolipid protein-like protein;uncharacterized protein C14orf162 APPROVED protein-coding 23243 16614 INFERRED 1317773 CCDC178 coiled-coil domain containing 178 18 18 18 q12.1 27325560 27828679 - 28771364 29274683 - 30517366 31020685 - 737633;6480464 12477932 17081983;15489334;14702039;20379614;22219177 374864 A1L4G8;F8W7A7;J3KRT5;J3KS92;J3KSU3;J3QKU2;J3QRM8;Q5BJE1 ABBA01022470;ABBA01022471;ABBA01022472;ABBA01022473;ABBA01022474;ABBA01022475;ABBA01022476;ABBA01022477;AC025888;AC090371;AC100845;AC104956;AC116607;AK000027;AK126038;AK129955;AMYH01008930;AMYH01008931;AMYH01008932;BC062719;BC091517;BC130535;BC144178;BC144179;CH471088;NM_001105528;NM_198995 AAH62719;AAH91517;AAI30536;AAI44179;ADR83389;BAC85257;BAC86407;EAX01301;NP_001098998;NP_945346;Q5BJE1 Hs.115461 1673970;1682956;1708674;1718301;1720663;1731713;1752023;1755431;1776918;2127197;5094124 AFM164ya9;AFM234VC11;D18S519;D18S987;G54559;G59142;RH122922;RH92259;SHGC-105995;SHGC-142305;SHGC-81478 C18orf34;FLJ44050;MGC111498;MGC163407 OTTHUMP00000163120;OTTHUMP00000163121;coiled-coil domain-containing protein 178;hypothetical protein LOC374864;uncharacterized protein C18orf34 APPROVED protein-coding ENSG00000166960 29588 12691 VALIDATED 1601798 CCDC18 coiled-coil domain containing 18 1 1 1 p22.1 91900087 91998449 + 93418508 93516858 + 93646281 93744287 + 6480464 12477932;12601173 343099 E9PDA0;E9PFB9;F5H8K2;G3V388;H0YCD6;H0YDP2;H7C0C9;J3KP97;Q5T9S2;Q5T9S5;Q6PH87 AA278251;ABBA01045526;AC126124;AI436590;AK126045;AL139421;AMYH01000801;AW444474;AY211914;AY211918;BC056667;BX538286;CA428763;CH471097;NM_206886 AAH56667;AAI52763;AAI56746;AAO65167;AAO65171;BAC86410;CAD98081;EAW73078;EAW73079;EAW73080;NP_996769;Q5T9S5 Hs.310637;Hs.482873 1337642;1692074;1693254;1714183;1797206 AL033579;AL033677;D1S2779;LOC348363;RH119701 NY-SAR-41;RP4-717I23.1;dJ717I23.1 OTTHUMP00000012325;OTTHUMP00000012326;OTTHUMP00000228706;coiled-coil domain-containing protein 18;sarcoma antigen NY-SAR-24;sarcoma antigen NY-SAR-41 protein-coding ENSG00000122483 30370 VALIDATED 1346239 CCDC176 coiled-coil domain containing 176 14 14 14 q24.3 54523011 54569747 + 73586210 73602548 + 74486059 74532795 + 6480464 18029348;17081983;15489334;14702039;12477932;22990118 80127 B3KUM1;G3V335;G3V488;Q8ND07 ABBA01030733;ABBA01030734;ABBA01030735;ABBA01030736;AC005484;AK026842;AK097531;AL834487;AMYH01005850;AMYH01005851;BC044808;BC104979;BC104981;CH471061;DB484577;DB493409;NG_033060;NM_025057 AAI04980;AAI04982;BAB15572;BAG53483;CAD39145;EAW81157;NP_079333;Q8ND07 Hs.644621 1336224;1652525;1669587;1675724;1688963;1721531;2110249;2127101;2150696;2185989 ALDH6A1_3184;D14S986;G36322;G59620;RH46132;RH67790;RH69632;RH92479;SHGC-54582;STS-R00273 C14orf45;FLJ23189 OTTHUMP00000202402;coiled-coil domain-containing protein 176;hypothetical protein LOC80127;uncharacterized protein C14orf45 APPROVED protein-coding ENSG00000119636 19855 12650 VALIDATED 1602471 CCDC181 coiled-coil domain containing 181 1 1 1 q24 142473892 142506452 - 167630738 167663294 - 169364114 169396670 - 6480464 15231748;12477932;8125298;19536175;18029348 57821 Q5TID7 ABBA01027952;AK098712;AK223354;AK313598;AL021068;AL049687;AMYH01001488;BC008388;BC008389;BC026073;CH471067;NM_021179 AAH26073;BAD97074;BAG36364;CAB41258;EAW90840;EAW90841;NP_067002;Q5TID7 Hs.567557 1656813;1677094;1700772;2109087 BLZF1_8827;RH104011;RH65485;RH92136 C1orf114;FLJ25846;RP1-206D15.2 OTTHUMP00000033494;OTTHUMP00000033495;coiled-coil domain-containing protein 181;uncharacterized protein C1orf114 APPROVED protein-coding ENSG00000117477 28051 14258 PROVISIONAL 4110705 CCDC180 coiled-coil domain containing 180 9 9 q22.33 70584270 70653930 + 100069910 100139577 + 10819331;11181995;12477932;14702039;15164053;15489334;16344560;17924679;17974005;18978678 100499483 B1APT3;B4DZK1;C9JGX5;F5H149;Q9P1Z9 ABBA01042933;AK123391;AK302965;AL137557;AL512590;AMYH01021553;BC047097;CH471105;CR627453;CR749320;DB050504;NM_020893 AAH47097;BAG64113;CAH10534;CAH10701;CAH18175;EAW58840;EAW58841;NP_065944;Q9P1Z9 Hs.435629 1726665;1780008;5014051;5015619;5037552;5112283 D11S3114;D8S2278;D8S2279;G62568;RH103003;SHGC-154259 BDAG1;DKFZp434I2420;DKFZp686B2031;DKFZp686G1725;FLJ41397;FLJ50036;KIAA1529 Behcet's Disease Associated Gene 1;OTTHUMP00000229402;coiled-coil domain-containing protein 180;hypothetical protein LOC100499483;uncharacterized protein C9orf174 APPROVED protein-coding ENSG00000197816 29303 VALIDATED 1604370 CCDC19 coiled-coil domain containing 19 1 1 1 q22 132910587 132938343 - 158108778 158136530 - 159842154 159869906 - 6480464 12477932;10524255;8125298;20715168;20000738;22140479;19322201;22997098 25790 Q05BA3;Q9UL16 ABBA01016617;AF094758;AK225566;AK225582;AK292249;AK308262;AL590560;AMYH01001448;BC027874;BC064386;BC089391;BC109055;CH471121;NM_012337 AAD55817;AAH89391;BAF84938;EAW52765;EAW52766;NP_036469;Q9UL16 Hs.647705 2138741 AL009554 NESG1;RP11-190A12.6 OTTHUMP00000033461;coiled-coil domain-containing protein 19, mitochondrial;nasopharyngeal epithelium specific protein 1 (NESG1);nasopharyngeal epithelium-specific protein 1 protein-coding ENSG00000213085 17229 05514 605152 VALIDATED 1352329 CCDC22 coiled-coil domain containing 22 This gene encodes a protein containing a coiled-coil domain. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. Localization of the orthologous rat protein suggests that it may play a role in neuronal injury response. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2011] X X X p11.23 52557382 52572443 - 48978885 48994341 + 49091927 49106987 + 737633;6480464 12477932 19204726;18029348;15489334;12522145;8889548;20237496;20398921;17478047;21826058;21988832;23563313;21139048;21890473;21906983;22070227;22505724;22797925 28952 O60826 ABBA01046141;ABBA01046142;AC232271;AF235097;AJ005890;AK291976;AK296911;AK298264;AK316375;AMYH01022294;BC000972;BC011675;BG912845;BM146102;CH471224;NG_021311;NM_014008 AAH00972;AAH11675;ABM85096;ABW03374;BAF84665;BAG59466;BAG60528;BAH14746;CAA06747;EAW50674;EAW50675;EAW50676;NP_054727;O60826 Hs.26333 1339854;1678085;1754167;2162098;7186118 DXS1208;DXS9795;RH99318;SHGC-132193 CXorf37;JM1 OTTHUMP00000025839;chromosome x open reading frame 37;coiled-coil domain-containing protein 22 APPROVED protein-coding ENSG00000101997 28909 06594 300859 REVIEWED 1605525 CCDC23 coiled-coil domain containing 23 1 1 1 p34.2 41554652 41565039 - 43045320 43055510 - 43272723 43283059 - 6480464 8889548;12477932;16710414;15489334;20736312;22614011 374969 Q8N300 ABBA01050971;ABBA01050972;ABBA01050973;AC098484;AK291356;AL512353;AMYH01000554;AMYH01000555;BC029427;BM675639;BQ712089;CH471059;NM_199342 AAH29427;BAF84045;EAX07134;EAX07135;NP_955374;Q8N300 Hs.113919 1688030;2174740;2176307;5092690 A005Q11;G32266;RH98844;SHGC-74676 OTTHUMP00000008831;coiled-coil domain-containing protein 23 protein-coding ENSG00000177868 29204 14191 VALIDATED 1603566 CCDC24 coiled-coil domain containing 24 1 1 1 p34.1 42740817 42745738 + 44229867 44234787 + 44457280 44462200 + 6480464 16710414;15489334;14702039;12477932;17207965;17043677 149473 Q6MZH0;Q8N4L8 ABBA01050934;AK092569;AL139220;AMYH01000564;AY487420;BC033868;BC047313;BX641142;CH471059;NM_152499 AAH33868;AAH47313;AAR39430;ADQ31638;CAE46063;EAX07058;EAX07059;EAX07060;EAX07061;NP_689712;Q8N4L8 Hs.632394 1662251;1669277;2191321;2218288 B4GALT2_4418;MARC_17364-17365:1033586704:3;RH78692;SHGC-74711 MGC45441;RP5-1198O20.2 OTTHUMP00000010013;coiled-coil domain-containing protein 24 protein-coding ENSG00000159214 28688 14636 PROVISIONAL 1605370 CCDC25 coiled-coil domain containing 25 8 8 8 p21.1 26550714 26590067 - 27646752 27686089 - 27590833 27630170 - 6480464 17081983;16344560;15489334;15345747;14702039;12477932;19322201;20379614;22379092 55246 B7Z2L8;E5RI21;G3V121;Q0P663;Q0VGD4;Q86WR0 ABBA01005592;ABBA01005593;AC013643;AC104997;AK001715;AK027900;AK292875;AK294848;AK311437;AK316015;AMYH01018599;BC006239;BC032588;BC049197;BC054039;BC065295;BC110391;CH471080;DA218015;NM_018246 AAH06239;AAH32588;AAH49197;AAH54039;AAH65295;AAI10392;BAA91857;BAB55442;BAF85564;BAH11904;BAH14386;EAW63539;EAW63540;EAW63541;EAW63542;EAW63543;NP_060716;Q86WR0 Hs.445512 1653825;1679603;2120040;2172210 A005K31;RH48464;RH66509;WI-12131 FLJ10853 OTTHUMP00000163035;OTTHUMP00000225312;OTTHUMP00000225313;OTTHUMP00000225315;coiled-coil domain-containing protein 25 protein-coding ENSG00000147419 25591 07705 VALIDATED 1605139 CCDC30 coiled-coil domain containing 30 1 1 1 p34.2 41282491 41402263 + 42772129 42892444 + 43000560 43120335 + 6480464 16710767 728621 B4DXQ2;D6RB86;D6RFH8;Q5VVM6 ABBA01023129;ABBA01023130;ABBA01023131;AC098484;AK024625;AK302075;AL138788;AL445669;AL832217;AMYH01000550;AMYH01000551;AY639646;BX640642;DC397297;NM_001080850 AAX19141;BAB14936;BAG63464;CAE45789;NP_001074319;Q5VVM6 Hs.729640 1335597;1341823;1668273;1701182;2160386;2167874;5014051;5015961;5020885;5021872;5022322;5022651;5024413;5037552;5109281;7187431 AL009878;D11S2560;D11S2921;D15S1477;D1S1425;D1S1702;D1S193;D1S2861;D8S2278;D8S2279;L17791;L17877;RH104219;WI-15744;sY3084 FLJ20972;PFD6L;PFDN6L OTTHUMP00000008584;OTTHUMP00000222509;coiled-coil domain-containing protein 30;prefoldin 6-like;prefoldin subunit 6-like protein protein-coding ENSG00000186409 26103 08632 VALIDATED 6484038 CCDC34P1 coiled-coil domain containing 34 pseudogene 1 4 q25 112989162 112989684 + 100288584 ABBA01063812;AC093663;AMYH01014468;NG_022070 pseudo 44008 INFERRED 1602432 CCDC27 coiled-coil domain containing 27 1 1 1 p36.32 2923006 2942247 + 3658822 3678069 + 3668965 3688209 + 6480464 18597038;16710414;16344560;15489334;14702039;12477932;20379614;22589738;23251661 148870 J3QKX2;Q2M243 ABBA01073653;AK057387;AL136528;AL365330;AMYH01000192;BC112108;BC112112;CH471130;DB048639;NM_152492 AAI12109;AAI12113;BAB71462;EAW71476;EAW71477;NP_689705;Q2M243 Hs.348700 1692012;1700780;1733056 AL033657;D1S1403;RH104015 FLJ32825;MGC138313;MGC138317;RP1-286D6.1 OTTHUMP00000003588;coiled-coil domain-containing protein 27 protein-coding ENSG00000162592 26546 08141 VALIDATED 1351078 CCDC28A coiled-coil domain containing 28A This gene is located in a region close to the locus of the pseudogene of chemokine (C-C motif) receptor-like 1 on chromosome 6. The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] 6 6 6 q23.1-q24.1 139834761 139854557 + 139136350 139156149 + 139094657 139114456 + 6480464 22058212;16028218;15489334;14574404;12477932;21139048;19322201 25901 Q8IWP9 ABBA01025806;AJ420568;AK300672;AL050197;AL121834;AMYH01016704;AY167571;BC000758;BC004464;BC013019;BC080566;BC108717;CH471051;NM_015439 AAH04464;AAH13019;AAH80566;AAI08718;AAN87344;BAG62357;CAB43315;EAW47910;EAW47911;NP_056254;Q8IWP9 Hs.412019 1658308;1665293;2124793 RH46863;SHGC-31193;STS-N33316 C6orf80;CCRL1AP;DKFZp586D0623;MGC131913 OTTHUMP00000017302;chemokine C-C motif receptor-like 1 adjacent;coiled-coil domain-containing protein 28A APPROVED protein-coding ENSG00000024862 21098 09857 615353 VALIDATED 1606993 CCDC34 coiled-coil domain containing 34 11 11 11 p14.1 27504487 27530149 - 27316637 27341371 - 27360061 27384795 - 6480464 11173847;17207965;15334068;12477932;10508479 91057 Q96HJ3 ABBA01060973;ABBA01060974;AC090597;AF155108;AF301222;AF382034;AK308494;AK313358;AL555720;AMYH01003456;AY598334;BC008496;BC029421;BU595712;CH471064;NM_030771;NM_080654 AAD42874;AAG39935;AAH08496;AAO13807;AAT06745;ADQ31630;BAG36159;EAW68287;EAW68288;EAW68289;NP_110398;NP_542385;Q96HJ3 Hs.143733 1668956;1675710 RH47720;RH92404 L15;NY-REN-41;RAMA3 NY-REN-41 antigen;OTTHUMP00000232172;OTTHUMP00000232173;coiled-coil domain-containing protein 34;renal carcinoma antigen NY-REN-41 protein-coding ENSG00000109881 25079 14868 612324 VALIDATED 1605539 CCDC36 coiled-coil domain containing 36 3 3 3 p21.31 49193717 49258916 + 49210865 49270160 + 49235861 49295537 + 12477932 339834 B4DZP6;F2Z2G6;Q8IYA8 AA858032;ABBA01024602;ABBA01024603;ABBA01024604;ABBA01024605;AC121247;AC135506;AK058049;AK303033;AMYH01013155;BC015057;BC036202;CH471055;NM_001135197;NM_178173 AAH36202;ADZ16026;BAB71640;BAG64158;EAW64965;EAW64966;NP_001128669;NP_835467;Q8IYA8 Hs.631931 1660641;1701436;5014051;5022578 D1S1423;D3S4019;D8S2278;RH104350 CT74;FLJ25320 OTTHUMP00000208932;OTTHUMP00000208933;cancer/testis antigen 74;coiled-coil domain-containing protein 36 protein-coding ENSG00000173421 27945 14172 VALIDATED 1351886 CCDC3 coiled-coil domain containing 3 10 10 10 p13 12864409 12969462 - 12978631 13083710 - 12938625 13043704 - 6480464 11256614;16381901;15489336;15489334;14702039;12477932;11230166;11076863;20881960 83643 Q5VYV9;Q9BQI4 ABBA01034635;AF190154;AK024578;AK095792;AK123393;AK124195;AL136562;AL353586;AL355355;AL596124;AMYH01002037;AMYH01002038;AMYH01002039;BC051334;CH471072;DN996248;NM_031455 AAH51334;AAQ13698;BAG53129;CAB66497;CAL38166;EAW86311;NP_113643;Q9BQI4 Hs.498720 1655406;1774966;2121203;2129721;2150641;2158668;2164947;2181603 G17404;RH44318;RH44500;RH44748;RH70051;STS-W81358;WI-13753;WI-20155 DKFZp761F241;FLJ20925;RP11-347I22.1 OTTHUMP00000019122;coiled-coil domain-containing protein 3;fat/vessel-derived secretory protein;favine protein-coding ENSG00000151468 23813 13008 VALIDATED 6481202 CCDC39-AS1 CCDC39 antisense RNA 1 100874112 AC068298 APPROVED miscrna 41089 1603961 CCDC28B coiled-coil domain containing 28B The product of this gene localizes to centrosomes and basal bodies. It interacts and colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS). [provided by RefSeq, Jul 2008] 1 1 1 p36.11-p34.2 30936104 30940893 + 32438789 32443578 + 32666202 32670991 + 6480464;7240710 19402160;16710414;16344560;16327777;15489334;14702039;12477932;8889548;8125298;17207965;21832049;20301537;23015189 79140 E9PM03;E9PM81;Q9BUN5 ABBA01023437;AK092702;AK225113;AK291904;AL049795;AMYH01000465;BC002462;BC022848;BM981930;CH471059;DA899719;NG_012178;NM_024296 AAH22848;ADQ32629;BAF84593;EAX07563;EAX07564;NP_077272;Q9BUN5 Hs.534482 MGC1203;MGC16441;RP4-622L5.5 OTTHUMP00000006371;OTTHUMP00000006372;coiled-coil domain-containing protein 28B APPROVED protein-coding ENSG00000160050 28163 14422 209900;610162 REVIEWED 1602211 CCDC33 coiled-coil domain containing 33 15 15 15 q24.1 51477090 51577123 + 72315720 72415535 + 74528667 74628482 + 6480464 16189514;19240061;16713569;16344560;15342556;14702039;12477932;20068295;20379614;21832049;19447967;23251661;23088713 80125 C9JFX2;H0YMB8;Q8N5R6 ABBA01060486;AC023300;AC090826;AI223423;AK026821;AK057417;AK290709;AK310852;AMYH01006792;BC009178;BC025689;BC031684;BP292996;CH471136;DB049940;DB070410;DB078117;NM_025055;NM_182791 AAH31684;BAB15564;BAF83398;BAG51911;EAW99343;EAW99344;EAW99345;EAW99346;EAW99347;NP_079331;NP_877592;Q8N5R6 Hs.383206;Hs.621342 1338877;1342213;1722933;1763931 D15S1001;D15S991;G60564;SHGC-147595 CT61;FLJ23168;FLJ32855;MGC34145 cancer/testis antigen 61;coiled-coil domain-containing protein 33 protein-coding ENSG00000140481 26552 09959 VALIDATED 1605540 CCDC39 coiled-coil domain containing 39 The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011] 3 3 3 q26.33 178763919 178829392 - 181814490 181879977 - 180331796 180397283 - 6480464 20379614;11256614;12477932;11329013;21145461;21131972;22693285;20301301 339829 C9IZC4;F8WBW2;H7C4X6;H7C5I6;Q9UFE4 ABBA01058515;AC068298;AK304270;AL122120;AMYH01013691;AMYH01013692;BC047103;BG205877;DC399927;NG_029581;NM_181426 BAG65133;CAB59277;NP_852091;Q9UFE4 Hs.712820;Hs.734668 1645368;1855293 RH66248;WI-11544 CILD14;DKFZp434A128;FAP59 OTTHUMP00000212526;OTTHUMP00000212527;coiled-coil domain-containing protein 39 APPROVED protein-coding ENSG00000145075 25244 613798;613807 REVIEWED 2311614 CCDC42B coiled-coil domain containing 42B 12 12 12 q24.13 113214654 113224070 + 112072046 112079110 + 113587663 113597081 + 16541075 387885 A6NFT4;H0YHK5 ABBA01019947;ABBA01019948;ABBA01019949;AC089999;AMYH01004757;NM_001144872 A6NFT4;NP_001138344 Hs.486856 1736220 D12S1164E OTTHUMP00000241813;coiled-coil domain-containing protein 42B protein-coding ENSG00000186710 37100 PROVISIONAL 1603366 CCDC38 coiled-coil domain containing 38 12 12 12 q23.1 95929959 96005323 - 94784958 94860559 - 96260826 96336428 - 6480464 15489334;14702039;12477932;20379614;21946350;23284291 120935 F8VRK3;F8VTU7;F8VY05;H0YHI1;Q502W7 ABBA01053320;ABBA01053321;AC090001;AC126174;AK097408;AMYH01004677;BC047659;BC095479;CH471054;NM_182496 AAH95479;BAC05038;EAW97550;EAW97551;NP_872302;Q502W7 Hs.210377 1676236 RH93038 FLJ40089 OTTHUMP00000243555;coiled-coil domain-containing protein 38 protein-coding ENSG00000165972 26843 08268 VALIDATED 1605992 CCDC40 coiled-coil domain containing 40 This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 17 17 17 q25.3 74636488 74703213 + 75625030 75689007 + 78010431 78074412 + 6480464 20301301;16344560;14702039;12477932;10997877;21131974;20714864;21832049;22693285;23382691 55036 I3L292;I3L2X6;I3L3G6;I3L477;J3QSY2;Q4G0X9 AB046860;ABBA01015411;ABBA01015412;ABBA01015413;ABBA01015414;AC087741;AC116025;AI393590;AK000760;AK056583;AK130684;AL713758;AMYH01008690;AMYH01008691;AMYH01008692;AW300891;BC035251;BC058288;BQ009577;CH471099;DA842356;DB230102;DB236682;NG_029761;NM_001243342;NM_017950 AAH35251;AAH58288;BAA91365;BAB13466;EAW89578;EAW89579;NP_001230271;NP_060420;Q4G0X9 Hs.202542 1675606;1682884;1693794;5022651 D11S2921;RH92754;RH98689;SHGC-58932 CILD15;FLJ20753;FLJ32021;KIAA1640 OTTHUMP00000163559;coiled-coil domain-containing protein 40 APPROVED protein-coding ENSG00000141519 26090 613799;613808 REVIEWED 7244507 CCDC41-AS1 CCDC41 antisense RNA 1 (head to head) 12477932;14702039 144486 ABBA01053364;AC068779;AK057269;AMYH01004661;BC035086;BC044616;NR_027035 Hs.118205 2123456 RH46348 miscrna 27055 VALIDATED 1602811 CCDC37 coiled-coil domain containing 37 3 3 3 q21.3 124538607 124580221 + 127596472 127638088 + 126113782 126155398 + 6480464 15489334;14702039;12477932;22011669 348807 E9PQV5;Q494V2 ABBA01016392;ABBA01016393;AC063919;AC073439;AK097402;AMYH01013450;BC101366;BC101367;BC101368;BC101369;CH471052;NM_182628 AAI01367;AAI01368;AAI01369;AAI01370;BAC05035;EAW79363;EAW79364;NP_872434;Q494V2 Hs.591305 1689518;1784810 RH92086;SHGC-155269 FLJ40083;MGC120558 OTTHUMP00000222548;OTTHUMP00000222567;coiled-coil domain-containing protein 37 protein-coding ENSG00000163885 26842 08805 VALIDATED 1601721 CCDC42 coiled-coil domain containing 42 17 17 17 p13.1 8664029 8678936 - 8573977 8588879 - 8633246 8648154 - 6480464 16189514;15489335;15489334;14702039;12477932;21139048 146849 J3KSK0;Q96M95 ABBA01054922;ABBA01054923;AC009451;AC011061;AI204372;AK057296;AMYH01008091;BC029224;CH471108;CV030241;NM_001158261;NM_144681 AAH29224;BAB71414;EAW90043;EAW90044;EAW90045;NP_001151733;NP_653282;Q96M95 Hs.121438 1760091 SHGC-106931 CCDC42A;FLJ32734 coiled-coil domain-containing protein 42A protein-coding ENSG00000161973 26528 08731 VALIDATED 1606980 CCDC43 coiled-coil domain containing 43 17 17 17 q21.31 39465309 39477668 - 40110331 40122691 - 42754805 42767165 - 6480464 14702039;12477932;17207965;21044950;21139048;21890473;22944692 124808 K7ER24;Q86WV7;Q96MW1 ABBA01028356;AC091152;AI073854;AK056357;AK098464;AL833590;AMYH01008426;BC023298;BC047776;BG706097;BX648868;CH471178;NM_001099225;NM_144609 AAH47776;ADQ33069;BAB71162;EAW51588;EAW51589;NP_001092695;NP_653210;Q96MW1 Hs.579115 1673368 RH15900 FLJ31795 coiled-coil domain-containing protein 43 protein-coding ENSG00000180329 26472 08107 VALIDATED 1606008 CCDC41 coiled-coil domain containing 41 12 12 12 q22 94373316 94525023 - 93226187 93377895 - 94702056 94853764 - 6480464 16344560;15489334;14702039;12477932;10508479;8889548;23530209;12586822;23251661;23314748 51134 F8VYN8;H0YHH5;J3KNW7;Q3B787;Q9Y592 ABBA01053364;AC068779;AC073655;AF155115;AK056316;AL705616;AMYH01004661;BC011009;BC032943;BC053614;BC107746;BC125086;BC125087;BU608784;CH471054;DA440413;DB449066;NM_001042399;NM_016122 AAD42881;AAI07747;AAI25087;AAI25088;EAW97501;EAW97502;EAW97503;EAW97504;EAW97505;NP_001035858;NP_057206;Q9Y592 Hs.279209 1337714;1651019;1654262;1698668;1746147;1746153;1756655;1767074;2123456;2129156;2166342;7186838 B311WC5;D12S1881;D12S327;G64442;G64527;RH102893;RH46348;RH48574;RH48920;SHGC-143711;SHGC-54537 Cep83;MGC149726;NY-REN-58 NY-REN-58 antigen;OTTHUMP00000243334;OTTHUMP00000243335;OTTHUMP00000243336;centrosomal protein of 83 kDa;coiled-coil domain-containing protein 41;renal carcinoma antigen NY-REN-58 protein-coding ENSG00000173588 17966 14869 VALIDATED 1602866 CCDC51 coiled-coil domain containing 51 3 3 3 p21.31 48424351 48432300 - 48448584 48456533 - 48473580 48481529 - 6480464 15342556;15146197;14702039;12477932;17207965;20877624;21906983;18029348 79714 C9JPZ8;C9JSW8;Q96ER9 AA749172;ABBA01024651;AC104448;AK022498;AL533758;AMYH01013149;AW957929;BC004341;BC011993;BG336520;BI755881;BM810621;BP307614;BQ050243;BQ427785;CH471055;CN259750;NM_001256964;NM_001256965;NM_001256966;NM_001256967;NM_001256968;NM_001256969;NM_024661 AAH11993;ADQ32699;BAB14060;EAW64867;EAW64868;EAW64869;EAW64870;EAW64871;EAW64872;NP_001243893;NP_001243894;NP_001243895;NP_001243896;NP_001243897;NP_001243898;NP_078937;Q96ER9 Hs.187657;Hs.740720 1687391;1688279;1778182 RH92047;RH98863;STS-AA116092 FLJ12436 OTTHUMP00000210092;OTTHUMP00000210093;coiled-coil domain-containing protein 51 protein-coding ENSG00000164051 25714 08571 VALIDATED 2303339 CCDC58P1 coiled-coil domain containing 58 pseudogene 1 18 18 p11.22 10613869 10614303 - 10623671 10624306 - 645859 ABBA01001270;AMYH01008810;AP001180;NG_009486 pseudo 32457 INFERRED 7206859 CCDC58P2 coiled-coil domain containing 58 pseudogene 2 10 q11.23 52722504 52723190 - 100287708 ABBA01052493;AL731537;AMYH01002736;NG_029973 pseudo 45025 VALIDATED 7206871 CCDC58P3 coiled-coil domain containing 58 pseudogene 3 18 p11.21 12211372 12212006 + 732448 ABBA01074011;AMYH01008830;AP005264;NG_030064 pseudo 45026 INFERRED 7206881 CCDC58P5 coiled-coil domain containing 58 pseudogene 5 11 73561510 73562252 - 100420588 ABBA01017504;AMYH01003811;AP002770;NG_024383 pseudo 45028 INFERRED 1606758 CCDC54 coiled-coil domain containing 54 3 3 3 q13.12 105492535 105493828 + 108578878 108580171 + 107096188 107097481 + 16138340;12477932;15257753 84692 Q8NEL0 ABBA01061712;AC063944;AF367469;AK058091;AMYH01013377;BC030780;CH471052;HC007188;NM_032600 AAH30780;AAK53405;ABM81755;ABM81756;ABM84911;BAB71661;CBH19399;EAW79746;NP_115989;Q8NEL0 Hs.164799 1720133;2219218 NYD-SP17__6095;RH123844 FLJ25362;NYD-SP17;SP17 OTTHUMP00000214257;coiled-coil domain-containing protein 54;sperm protein 17;testes development-related NYD-SP17;testis development protein NYD-SP17 protein-coding ENSG00000138483 30703 14860 PROVISIONAL 1606297 CCDC53 coiled-coil domain containing 53 12 12 12 q23.2 102070738 102119920 - 100930848 100980029 - 102406717 102455899 - 6480464 16189514;16169070;15489334;12477932;10931946;10810093;8125298;17207965;19060904;19922875;22939629 51019 F5GWI9;F5GXZ4;F5GXZ7;F5GZ97;F5H0A7;F5H2P1;H0YGN0;Q9Y3C0 ABBA01053232;AC079907;AF151874;AF155655;AI739611;AK223339;AK314970;AMYH01004704;BC010889;CH471054;CR457171;DB452335;FJ695207;NM_016053 AAD34111;AAF67012;AAH10889;ADQ33161;BAD97059;BAG37471;CAG33452;EAW97687;NP_057137;Q9Y3C0 Hs.405692 CGI-116 OTTHUMP00000238240;OTTHUMP00000238242;OTTHUMP00000238243;OTTHUMP00000238244;WASH complex subunit CCDC53;coiled-coil domain-containing protein 53 protein-coding ENSG00000120860 24256 13031 VALIDATED 1603982 CCDC47 coiled-coil domain containing 47 17 17 17 q23.3 56210730 56239209 - 59176342 59204668 - 61822610 61851088 - 6480464 21145461;17353931;16344560;16303743;15489334;14702039;12477932;8125298;16169070;20562859;22990118;21139048;21343306;21890473;21903422;21906983;22190034 57003 J3KRX4;Q96A33 ABBA01035321;ABBA01035322;AC015651;AF113221;AF226054;AK027786;AK027844;AK075387;AK225813;AK314328;AMYH01008549;BC001300;BC008905;BC013600;CH471109;CS051185;DB222124;NM_020198 AAF86954;AAG39292;AAH08905;AAH13600;ABM87572;BAB55367;BAB55407;BAC11587;BAG36975;CAI72088;EAW94279;EAW94280;EAW94281;EAW94282;NP_064583;Q96A33 Hs.202011 1648264;1657050;1676672;1699358;1734476;1739153;2172238 D17S1437E;D17S1628;RH103266;RH45286;RH47195;RH80257;SHGC-11242 GK001;MSTP041 coiled-coil domain-containing protein 47 protein-coding ENSG00000108588 24856 17041 VALIDATED 1606954 CCDC50 coiled-coil domain containing 50 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] 3 3 q28 192529568 192592658 + 191046874 191116459 + 6480464;7240710 18029035;17503326;17081983;16803894;15951569;15489334;15314609;14702039;14527723;12483295;12477932;19285159;17207965;16169070;18029348;19059208;19641524;20972266;21139048;21890473;21906983;21963094;23000965;18781797;20654576;21987572;20301607;22331027;22053931 152137 Q8IVM0 ABBA01058317;AC068645;AC073365;AJ416916;AJ557013;AK055652;AK092045;AK093660;AL512753;AMYH01013761;AMYH01013762;BC065004;CH471052;NG_008994;NM_174908;NM_178335 AAH65004;ADQ32531;CAC95196;CAD89526;EAW78089;EAW78090;NP_777568;NP_848018;Q8IVM0 Hs.478682 1336678;1340974;1644251;1648202;1651554;1653845;1657789;1689276;1692126;2115204;2146899;2156520;2165459;2165461;5037552;7187068 A001T04;AL033702;Cda0ce01;D3S1314;D3S2418;D3S3321;D3S4224;D8S2279;G19613;RH45920;RH92964;SHGC-32957;SHGC-77656;SHGC-77660;STS-N26778 C3orf6;DFNA44;YMER OTTHUMP00000209328;OTTHUMP00000209329;coiled-coil domain-containing protein 50;protein Ymer APPROVED protein-coding ENSG00000152492 18111 06463 607453;611051 REVIEWED 1605253 CCDC57 coiled-coil domain containing 57 17 17 17 q25.3 76681026 76765150 - 77652635 77763978 - 80059346 80170689 - 6480464 15851553;14702039;12477932;10737800;9110174;8619474;19913121;20628086;20379614;20682791 284001 E9PDF5;H7BYI8;J3KRQ8;J3KSU5;J3QQX7;K7N7D6;Q2TAC2 ABBA01019663;ABBA01019664;ABBA01019665;ABBA01019666;ABBA01019667;ABBA01019668;ABBA01019669;ABBA01019670;AC129510;AC132872;AC135056;AF007146;AK074059;AK074334;AK125941;AL137530;AMYH01008730;AMYH01008731;BC040264;BC110997;BE146089;CK431023;NM_198082 AAH40264;AAI10998;ACE86764;ACE87450;BAB84885;BAB85054;CAB70794;NP_932348;Q2TAC2 Hs.631724 1731044;1758059;1758425;1783518;5015619;5022588 D10S273;D11S3114;D5S1597E;SHGC-147232;SHGC-148294;SHGC-149799 FLJ00130;FLJ23754;FLJ43953;MGC102869 OTTHUMP00000179168;OTTHUMP00000184904;coiled-coil domain-containing protein 57 protein-coding ENSG00000176155 27564 08041;14150 VALIDATED 2290511 CCDC61 coiled-coil domain containing 61 19 19 19 q13.32 43303349 43326887 + 51190179 51213714 + 46498719 46521874 + 6480464 17081983;15057824;19913121;20628086;8889548 729440 F5GZQ6;M0QY15;M0QYL5;M0R0U9;Q9Y6R9 ABBA01040959;AC007785;AC011545;AMYH01009858;AW453013;BI819372;BQ184369;CA775840;CB852675;DR007040;GQ375050;NM_001267723 AAD38244;AAF98366;ACT79331;NP_001254652;Q9Y6R9 Hs.515479 1742029;1742045 GDB:189978;GDB:190005 coiled-coil domain-containing protein 61 protein-coding ENSG00000104983 33629 VALIDATED 1603186 CCDC64 coiled-coil domain containing 64 12 12 12 q24.23 120060761 120165412 + 118912031 119016682 + 120427648 120532299 + 6480464 19734545;20379614;21555518 92558 B4DNE7;B4DWL0;H0YHP2;H0YHW1;H0YIC1;Q6ZP65 ABBA01020092;ABBA01020093;ABBA01020094;AC004812;AC004815;AK129960;AK297888;AK301580;AMYH01004796;AMYH01004797;CH471054;HI574098;NM_207311;U88834 AAC83181;BAC85259;BAG60209;BAG63072;CBX47538;EAW98159;EAW98160;EAW98161;EAW98162;NP_997194;Q6ZP65 Hs.369763 1677987;2139597;2157833 D12S1222E;G15657;RH78107 BICDR-1;FLJ26450;H_267D11.1 BICD-related protein 1;OTTHUMP00000240729;WUGSC:H_267D11.1;bicaudal D-related protein 1;coiled-coil domain-containing protein 64A protein-coding ENSG00000135127 28095 14292 VALIDATED 1604240 CCDC58 coiled-coil domain containing 58 3 3 3 q21.1 120488064 120511702 - 123561126 123584764 - 122078436 122102074 - 6480464 15489334;12477932;20877624;20558539;20705733;21139048;21890473;21906983;19322201 131076 C9JBU9;C9JQ41;H7C525;Q4VC31 ABBA01016470;AC083798;AMYH01013430;BC054051;BC062725;BC109378;CH471052;NM_001017928 AAH62725;AAI09379;EAW79487;EAW79488;NP_001017928;Q4VC31 Hs.220594 FLJ33273 OTTHUMP00000215572;OTTHUMP00000215574;OTTHUMP00000215575;coiled-coil domain-containing protein 58 protein-coding ENSG00000160124 31136 18548 VALIDATED 1606017 CCDC59 coiled-coil domain containing 59 12 12 12 q21.31 82413647 82420144 - 81270220 81276330 - 82746083 82752584 - 6480464 11152647;17353931;16630564;14702039;12882447;12477932;11042152;8125298;17207965;16341674;16344560;21832049 29080 F8VNY5;Q9P031 ABBA01053471;AC083811;AF161477;AF213377;AK001156;AK225139;AL832749;AMYH01004622;BC020647;BG538660;BM846580;CH471054;DA666239;NM_014167;NR_033192 AAF29092;AAG43569;AAH20647;ADQ32217;BAA91524;EAW97379;EAW97380;NP_054886;Q9P031 Hs.582627 1654268;1685736;1723861;2109409;2119164 HSPC128_9574;RH118666;RH98258;SHGC-56799;STS-T48329 BR22;DKFZp686K1021;FLJ10294;HSPC128;TAP26 OTTHUMP00000243350;TTF-1-associated protein 26;TTF-1-associated protein BR2;coiled-coil domain-containing protein 59;thyroid transcription factor 1-associated protein 26 protein-coding ENSG00000133773 25005 13696 VALIDATED 1602176 CCDC60 coiled-coil domain containing 60 12 12 12 q24.23 119405646 119611925 + 118256900 118463235 + 119772517 119978852 + 6480464 18332876;17903295;16344560;15489334;12477932;8889548;21832049 160777 F5H2N8;F5H5H4;Q8IWA6 ABBA01020071;ABBA01020072;ABBA01020073;AC002070;AC084881;AK310830;AMYH01004789;AMYH01004790;BC040553;BM724243;CH471054;DB204596;NM_178499 AAH40553;ADZ15590;EAW98147;EAW98148;EAW98149;EAW98150;NP_848594;Q8IWA6 Hs.98188 1689566;1746769;1760359;1763673;1792142;2127421 G19120;G64758;PMC137543P4;RH92177;SHGC-141975;SHGC-147355 MGC39827 OTTHUMP00000239787;coiled-coil domain-containing protein 60 protein-coding ENSG00000183273 28610 11347 VALIDATED 1626601 CCDC64B coiled-coil domain containing 64B 16 16 16 p13.3 3283423 3291087 - 3017869 3025543 - 3077868 3085542 - 6480464 12477932;16196087 146439 A1A5D9 ABBA01026726;AC108134;AK307181;AL833717;AL833749;AMYH01007088;AMYH01007089;BC015446;BC128602;BG142147;CH471112;NM_001103175 A1A5D9;AAI28603;CAH56245;EAW85420;NP_001096645 Hs.513285 BICDR-2;MGC158069 BICD-related protein 2;bicaudal D-related protein 2;coiled-coil domain-containing protein 64B protein-coding ENSG00000162069 33584 VALIDATED 1604733 CCDC63 coiled-coil domain containing 63 12 12 12 q24.11 110911504 110972027 + 109769194 109829721 + 111284811 111345338 + 6480464 14702039;12477932;21270382;21372407;23364009 160762 B4DY03;G3V217;Q8NA47 ABBA01005123;ABBA01005124;ABBA01005125;ABBA01019875;ABBA01019876;AC002351;AC002375;AK093162;AK302207;AK310294;AMYH01004747;BC044815;BC064580;BC073147;CH471054;HC006984;NM_152591 AAH44815;AAH64580;AAH73147;BAC04081;BAG63565;CBH19297;EAW97941;EAW97942;NP_689804;Q8NA47 Hs.437141 FLJ35843;ODA5 OTTHUMP00000241468;OTTHUMP00000241469;OTTHUMP00000241470;coiled-coil domain-containing protein 63;outer row dynein assembly 5 homolog protein-coding ENSG00000173093 26669 08765 PROVISIONAL 1344180 CCDC6 coiled-coil domain containing 6 This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010] 10 10 q21 61218527 61336824 - 61548505 61666414 - 1580863;6480464;6907045;7240710 17353931;8058316;19487296;18474871;18226854;17420723;17081983;16964243;16344560;15302935;15144186;14712216;14702039;12477932;8889549;7753554;6745938;2406025;775355;18715871;22655027;1678508;2334411;2902563;3600795;8889548;16385451;18029348;19615732;19730683;20379614;20498639;22863883;23145146;22399611;19156129;21139048;21890473;21906983;19322201;22327623;22363533;22113938;23000965;23154560;23108047 8030 Q05CP8;Q16204 AA112388;ABBA01019456;AC023904;AC060231;AK024913;AK055515;AK056848;AK292593;AMYH01002767;BC022284;BC036757;BC064391;BM672399;CH471083;DA189501;DA923950;NG_027819;NM_005436;S72869 AAC60637;AAH22284;AAH36757;AAH64391;BAF85282;EAW54196;EAW54197;NP_005427;Q16204 Hs.591360 1688372;1710018;1716391;1735994;2110205;2218346;5037441 CCDC6_4525;D10S1283E;D10S170E;RH121376;RH64866;SHGC-82279;stb3m2.p1b D10S170;FLJ32286;H4;PTC;TPC;TST1 OTTHUMP00000019644;coiled-coil domain-containing protein 6;papillary thyroid carcinoma-encoded protein;protein H4 APPROVED protein-coding ENSG00000108091 18782 09064 188550;601985 REVIEWED 1603292 CCDC62 coiled-coil domain containing 62 12 12 12 q24.31 122851887 122906208 + 121825026 121877884 + 123259056 123311927 + 6480464 19165854;19126643;18563714;15489334;14702039;12477932;21292315;18029348 84660 F5H0F1;Q6P9F0 ABBA01060447;ABBA01060448;ABBA01060449;ABBA01060450;ABBA01060451;ABBA01060452;AC027290;AK097663;AK124633;AK292466;AMYH01004831;AMYH01004832;AW628007;AY009105;AY254201;BC060796;CD556476;CH471054;DB458565;NM_201435;NR_027918 AAG49396;AAH60796;AAP13075;BAC85909;BAF85155;BAG53505;EAW98344;EAW98345;NP_958843;Q6P9F0 Hs.592008 1684622;5015861;5022425;5037552;5109281;7185938 D10S16;D1S1425;D22S296;D8S2279;RH98639 CT109;ERAP75;FLJ25432;FLJ40344;TSP-NY;aaa OTTHUMP00000239373;OTTHUMP00000239374;OTTHUMP00000239611;aaa-protein;cancer/testis antigen 109;coiled-coil domain-containing protein 60;coiled-coil domain-containing protein 62;protein aaa;testis-specific protein TSP-NY protein-coding ENSG00000130783 30723 15575 613481 VALIDATED 1604557 CCDC65 coiled-coil domain containing 65 CCDC65 is a sperm tail protein that is posttranslationally modified during sperm capacitation (Zheng et al., 2006 [PubMed 17089017]).[supplied by OMIM, Mar 2008] 12 12 12 q13.12 48092267 48109838 + 47584197 47601625 + 49297893 49315359 + 6480464 17089017;16344560;14702039;12477932;8889548;21700706 85478 F8VR42;F8W0R6;Q8IXS2 ABBA01031493;ABBA01031494;AC073610;AF382188;AK093051;AK098529;AK302082;AK314623;AMYH01004435;AMYH01004436;BC039317;CA314956;CH471111;DB026303;NM_033124 AAH39317;AAK60542;BAC04035;BAC05324;BAG37189;BAG63469;EAW58020;EAW58021;NP_149115;Q8IXS2 Hs.512805 1683876 RH98468 FLJ25663;FLJ35732;NYD-SP28 OTTHUMP00000243694;OTTHUMP00000243695;OTTHUMP00000243697;coiled-coil domain-containing protein 65;testis development protein NYD-SP28 APPROVED protein-coding ENSG00000139537 29937 14867 611088 VALIDATED 1606948 CCDC67 coiled-coil domain containing 67 11 11 11 q21 90361768 90463143 + 92703531 92811284 + 93063883 93171636 + 6480464 16189514;12477932;22424883;23251661;22610074 159989 E9PIV7;E9PIY2;E9PJR5;E9PLL9;E9PLX9;E9PMP4;E9PPB2;Q05D60 ABBA01040045;ABBA01040046;ABBA01040047;AK058122;AK127973;AMYH01003952;AMYH01003953;AMYH01003954;AMYH01003955;AMYH01003956;AMYH01003957;AMYH01003958;AP003969;AP004242;BC017929;BC031247;BC050325;CH471065;DB449834;NM_181645 AAH17929;AAH31247;BAB71673;BAC87213;EAW66898;EAW66899;EAW66900;NP_857596;Q05D60 Hs.436625 2178962 D11S1160 FLJ25393 OTTHUMP00000235944;OTTHUMP00000235945;OTTHUMP00000235946;OTTHUMP00000235947;coiled-coil domain-containing protein 67 protein-coding ENSG00000165325 26344 08689 VALIDATED 1605241 CCDC66 coiled-coil domain containing 66 3 3 3 p14.3 56557122 56621599 + 56566231 56630876 + 56591184 56655864 + 6480464 17562024;16344560;14702039;12477932;8889548;20379614;22505724 285331 A2RUB6;C9JGU1;C9JYB8;F2Z2K6;F5H4H5;F8WB87;F8WCB1;F8WCY0;F8WDJ0 AA887479;ABBA01024444;ABBA01024445;ABBA01024446;ABBA01024447;AC098478;AC099781;AK095688;AK096754;AK125303;AL832556;AL832692;AL833326;AMYH01013207;AMYH01013208;BC047509;BC132827;BG484326;BU674751;CF994722;CU456552;DA017177;NM_001012506;NM_001141947;NR_024460 A2RUB6;AAH47509;AAI32828;BAC04607;BAG54180;NP_001012524;NP_001135419 Hs.476399 2151630;5015619;5109527;5124341 D11S3114;D3S2752E;D3S2886E;RH94001 DKFZp686C0433 OTTHUMP00000208578;OTTHUMP00000208579;OTTHUMP00000208583;coiled-coil domain-containing protein 66 protein-coding ENSG00000180376 27709 14569 VALIDATED 1353671 CCDC7 coiled-coil domain containing 7 10 10 10 p11.22 32499925 32628330 + 32775047 32903498 + 32735041 32863492 + 737633 12477932 19277478;16189514;15489334;14702039;21109960;16385451;20379614;22024937;22145905 221016 A6YT98;A6YT99;A6YTA0;Q5JTR9;Q96M83 ABBA01033381;AK057324;AK058148;AL354750;AL391839;AMYH01002223;BC022020;BC042672;BI462512;BX647771;CH471072;EF656618;EF656619;EF656620;NM_001026383;NM_145023 AAH22020;AAH42672;ABR88143;ABR88144;ABR88145;BAB71426;BAB71686;CAI46051;EAW85964;EAW85965;EAW85966;NP_001021554;NP_659460;Q96M83 Hs.585464 1647519;1679107;1680974;1682810;1700916;1709248 G23952;RH104085;RH40315;RH69539;RH99057;SHGC-85814 BioT2-A;BioT2-B;BioT2-C;DKFZp686N0559;FLJ32762;RP11-479G22.1 OTTHUMP00000019417;OTTHUMP00000019418;coiled-coil domain-containing protein 7 protein-coding ENSG00000216937 26533 10812 VALIDATED 1603313 CCDC69 coiled-coil domain containing 69 5 5 5 q33.1 146641931 146685003 - 150540806 150583847 - 150560613 150603654 - 6480464 14702039;12477932;8125298;20962590;23568457;21900206;23251661 26112 A6NI79;E5RK59;H0YB32;H0YBY5;Q7L2X4 ABBA01026265;AC008385;AC011342;AK023767;AK094658;AK225826;AK292841;AK298063;AL080169;AL713742;AMYH01015711;AY538626;BC013053;BC016647;BM927471;CH471062;NM_015621 A6NI79;AAH16647;AAS45488;BAB14672;BAF85530;BAG60356;CAB45757;EAW61682;EAW61683;NP_056436 Hs.655336 1773786;1780830;1849695;2135282;2179806;5014051 D5S2842;D8S2278;RH45592;SHGC-57158;WI-12039;bac52338S DKFZp434C171;FLJ13705 OTTHUMP00000160622;OTTHUMP00000224129;coiled-coil domain-containing protein 69 protein-coding ENSG00000198624 24487 13152 VALIDATED 1601959 CCDC68 coiled-coil domain containing 68 18 18 18 q21 49286315 49344306 - 50719791 50777635 - 52568740 52626739 - 6480464 15489334;15142679;12477932;11149944;17207965;21441570;22939629;21926974;23453885 80323 K7EN04;Q9H2F9 ABBA01056105;ABBA01056106;ABBA01056107;AC098848;AF273051;AI823801;AK058097;AK313793;AMYH01009015;AMYH01009016;BC029508;CH471096;NM_001143829;NM_025214 AAG34911;AAH29508;ADQ31668;BAG36530;EAW63013;EAW63014;EAW63015;NP_001137301;NP_079490;Q9H2F9 Hs.120790 2126574;2177097 SHGC-58160;STS-H02496 FLJ25368;SE57-1 CTCL tumor antigen se57-1;CTCL-associated antigen se57-1;OTTHUMP00000163560;coiled-coil domain-containing protein 68;cutaneous T-cell lymphoma associated antigen;cutaneous T-cell lymphoma-associated antigen se57-1 protein-coding ENSG00000166510 24350 18034 VALIDATED 1603195 CCDC70 coiled-coil domain containing 70 13 13 13 q14.3 33484752 33489009 + 51334118 51338373 + 52436117 52440372 + 6480464 11256614;15489334;15342556;15057823;14702039;12477932;11230166;8125298;17207965 83446 Q6NSX1 ABBA01051051;AK098719;AK225745;AL136887;AL162377;AMYH01005116;BC069691;BC069748;BC069770;BC069806;BP371671;CH471075;CS072272;NM_031290 AAH69691;AAH69748;AAH69770;AAH69806;ACE86850;ACE87537;ADQ32881;BAC05391;CAB66821;CAI93410;EAX08897;NP_112580;Q6NSX1 Hs.120573 5017753 CCDC70 DKFZp434K1172;FLJ25853 OTTHUMP00000018440;coiled-coil domain-containing protein 70 protein-coding ENSG00000123171 25303 13158 PROVISIONAL 6766706 CCDC74B-AS1 CCDC74B antisense RNA 1 (non-protein coding) 2147860;5037552 D8S2279;RH69556 miscrna VALIDATED 1601781 CCDC73 coiled-coil domain containing 73 11 11 11 p13 32770373 32962956 - 32580202 32772763 - 32623626 32781804 - 6480464 18519826;12601173;12477932;20379614 493860 A6H8Y7;H0YDV2;Q6ZRK6 AA521271;ABBA01060907;ABBA01060908;AK128159;AK131470;AL035400;AL049714;AL078477;AL096793;AMYH01003479;AW088759;AY211922;BC062749;BC146800;BU569581;CH471064;NM_001008391 AAH62749;AAI46801;AAI67796;AAO65175;BAC87304;BAD18615;EAW68216;NP_001008392;Q6ZRK6 Hs.706808 1660145;1703220;1734020;1737795 D11S2162;D11S3395;D11S4680;SGC31799 NY-SAR-79 OTTHUMP00000232448;coiled-coil domain-containing protein 73;sarcoma antigen NY-SAR-79 protein-coding ENSG00000186714 23261 17414 612328 VALIDATED 5489341 CCDC75P1 coiled-coil domain containing 75 pseudogene 1 3 3 p13 73314314 73315132 - 73231455 73232558 - 344709 ABBA01030963;AC138389;AMYH01013282;NG_022207 pseudo 42659 INFERRED 1601742 CCDC71 coiled-coil domain containing 71 3 3 3 p21.31 49157127 49161007 - 49174972 49178789 - 49199968 49203785 - 6480464 16344560;15489334;14702039;12477932;17403666;17207965;22797925 64925 Q8IV32 ABBA01024608;AC135506;AK022862;AK023691;AK098658;AMYH01013155;BC035516;BC071960;CH471055;DA613715;NM_022903 AAH35516;AAH71960;ADQ31800;BAB14278;BAB14642;EAW64960;NP_075054;Q8IV32 Hs.211472 FLJ12800;FLJ13629 2600016J21Rik;OTTHUMP00000210680;coiled-coil domain-containing protein 71 protein-coding ENSG00000177352 25760 08576 VALIDATED 1602288 CCDC71L coiled-coil domain containing 71-like 7 7 7 q22.3 101104196 101106638 - 106086385 106088827 - 106297211 106301634 - 6480464 14702039;12690205;12477932;12107410;8889549;21890473;21906983;22505724 168455 Q8N9Z2 AA191066;AACC02000004;ABBA01057922;AC004917;AI674055;AK021498;AK093350;AK098422;AMYH01017827;BC013906;BC032243;CA397148;CH236947;CK904414;NM_175884 AAH13906;BAC04142;EAL24398;NP_787080;Q8N9Z2 Hs.29692;Hs.633903 1848110;2163057 RH48695;WI-17564 C7orf74;FLJ11436;FLJ25556;FLJ36031;MGC16181 OTTHUMP00000226016;coiled-coil domain-containing protein 71L;hypothetical protein LOC168455;uncharacterized protein C7orf74 APPROVED protein-coding ENSG00000253276 26685 08202 VALIDATED 6766771 CCDC74B-AS1 CCDC74B antisense RNA 1 2 q21.2 130887196 130896986 + 12477932;21906983 285103 ABBA01017941;AC018804;AMYH01011050;AMYH01011051;BC036597;NR_033903 Hs.570106 APPROVED miscrna ENSG00000223760 44130 VALIDATED 1604765 CCDC74A coiled-coil domain containing 74A 2 2 2 q21.1 126010320 126016067 + 132001962 132007709 + 132285407 132291239 + 12477932;15815621;15489334;14702039;17207965;15489335;16344560 90557 C9IYK9;F1SW65;F1SW66;F5GZA4;F8WEI8;Q96AQ1 AB299086;AB299087;ABBA01028229;ABBA01028230;ABBA01028231;AC093838;AK097664;AK309113;AMYH01011102;BC016861;BC030744;BC063387;CS063590;CV023784;DA375407;NM_001258304;NM_001258305;NM_001258306;NM_138770 AAH16861;AAH30744;AAH63387;AAY14809;ADQ31761;BAC05137;BAK08536;BAK08537;CAI84530;NP_001245233;NP_001245234;NP_001245235;NP_620125;Q96AQ1 Hs.351461 2147860 RH69556 CCDC74AV2;CCDC74AV3;FLJ40345 OTTHUMP00000162445;OTTHUMP00000204205;coiled-coil domain-containing protein 74A protein-coding ENSG00000163040 25197 14274 VALIDATED 1605902 CCDC74B coiled-coil domain containing 74B 2 2 2 q21.1 124177086 124177399 - 130613332 130619101 - 130896856 130902707 - 6480464 15489334;14702039;12477932 91409 B8ZZB0;C9JC78;E7ESC5;E9PG54;F8WB40;F8WCQ0;H7C1C8;Q96LY2 ABBA01017941;AC018804;AI300820;AK057609;AK297246;AK302804;AL133619;AMYH01011051;BC067771;CD359923;NM_001258307;NM_207310 AAH67771;BAB71533;BAG59726;BAG64006;CAB63745;NP_001245236;NP_997193;Q96LY2 Hs.29383 2147860 RH69556 DKFZp434E2321 OTTHUMP00000162397;OTTHUMP00000204217;OTTHUMP00000204285;coiled-coil domain-containing protein 74B protein-coding ENSG00000152076 25267 08534 VALIDATED 1345830 CCDC78 coiled-coil domain containing 78 The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012] 16 16 16 p13.3 972747 976638 - 712583 716460 - 772582 776473 - 14702039;12477932;11157797;20237496;18029348;22818856 124093 H3BLT8;I3L158;Q8NAY7 ABBA01030353;AE006464;AK057178;AK091831;AK127495;AK128538;AK128575;AK298111;AK303991;AMYH01007003;AY439221;BC027941;BC042110;CH471112;DC341680;NG_032932;NM_001031737;Z98258 A2IDD5;AAH42110;AAK61249;AAR13900;BAC03757;BAC87006;BAC87488;BAG60396;BAG64908;EAW85734;EAW85735;EAW85736;EAW85737;EAW85738;EAW85739;EAW85740;EAW85741;EAW85742;EAW85743;EAW85744;EAW85745;NP_001026907 Hs.381943 C16orf25;CNM4;FLJ34512;JFP10;LA16c-444G9.2 OTTHUMP00000149990;OTTHUMP00000237752;chromosome 16 open reading frame 25;coiled-coil domain-containing protein 78 APPROVED protein-coding ENSG00000162004 14153 08174 614666;614807 VALIDATED 1351060 CCDC8 coiled-coil domain containing 8 This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011] 19 19 19 q13.32 43718552 43721888 - 51605925 51608681 - 46913586 46916919 - 737633;6480464 12477932 11256614;15489334;11230166;21737058;19389623;22084066;22156540;21572988;21139048;20301654;23018678 83987 G8IFA7;Q9H0W5 ABBA01040975;AC024584;AI301367;AK297668;AL136609;AMYH01009862;BC015648;BC025243;BG717344;BX096201;CH471126;JN703457;NG_031956;NM_032040 AAH25243;ACE86552;AET25567;BAG60030;CAB66544;EAW57418;NP_114429;Q9H0W5 Hs.744359;Hs.97876 3M3;DKFZp564K0322;PPP1R20;p90 OTTHUMP00000221906;coiled-coil domain-containing protein 8;p90;protein phosphatase 1, regulatory subunit 20 APPROVED protein-coding ENSG00000169515 25367 13009 614145;614205 REVIEWED 1605833 CCDC79 coiled-coil domain containing 79 16 16 16 q22.1 51297518 51343833 - 65346380 65393024 - 66788879 66835523 - 6480464 14702039;12477932 283847 J3KSG9;J3KT78;J3KTG9;Q8NA31 ABBA01025415;ABBA01025416;ABBA01025417;AC044802;AK093213;AMYH01007742;BC126109;NM_001136505 AAI26110;BAC04098;NP_001129977;Q8NA31 Hs.376505 1664357;1701462 Cda01h11;RH104363 FLJ35894 coiled-coil domain-containing protein 79 protein-coding ENSG00000249961 26675 08197 PROVISIONAL 1605353 CCDC81 coiled-coil domain containing 81 11 11 11 q14.2 83396384 83444761 + 85763426 85811798 + 86085778 86134151 + 6480464 12477932 60494 E9PMI9;Q6ZN84 ABBA01017322;AI073989;AK027167;AK131331;AK223168;AK298875;AMYH01003851;AP001148;BC126412;NM_001156474;NM_021827 AAI26413;BAB15681;BAD18491;BAD96888;BAG60992;NP_001149946;NP_068599;Q6ZN84 Hs.144913 1729794;2130612 D11S2619;D16S321 FLJ16339;FLJ23514 OTTHUMP00000235494;OTTHUMP00000235496;OTTHUMP00000235497;coiled-coil domain-containing protein 81 protein-coding ENSG00000149201 26281 08032 VALIDATED 1601842 CCDC77 coiled-coil domain containing 77 12 12 12 p13.33 2107358 2158930 + 384939 422069 + 498516 551808 + 6480464 16344560;15489334;14702039;12477932;21139048;22505724 84318 F5H0W5;F5H5Q8;Q9BR77 ABBA01048853;ABBA01048854;ABBA01048855;AC005844;AK027638;AK293165;AK308216;AK316029;AMYH01004166;BC006444;CH471116;CX784327;DA711064;DC331633;NM_001130146;NM_001130147;NM_001130148;NM_032358 AAH06444;BAB55255;BAG56709;BAH14400;EAW88967;EAW88968;EAW88969;NP_001123618;NP_001123619;NP_001123620;NP_115734;Q9BR77 Hs.631656 1668052;1693596;2167977 D12S1867;RH47557;SHGC-58503 MGC13183 OTTHUMP00000159504;OTTHUMP00000237747;OTTHUMP00000237749;OTTHUMP00000237750;coiled-coil domain-containing protein 77 protein-coding ENSG00000120647 28203 17485 VALIDATED 1606128 CCDC83 coiled-coil domain containing 83 11 11 11 q14.1-q14.2 82875432 82940333 + 85243792 85308699 + 85566144 85631051 + 6480464 14702039;12477932;17633455;17207965;22923163 220047 H0YDV3;Q8IWF9 ABBA01017331;ABBA01017332;AK093405;AK124113;AK314036;AMYH01003848;AP000974;AP003128;AY251167;BC040280;CH471076;HC007154;HC044677;NM_173556 AAH40280;AAP20064;ADQ31764;BAC04154;BAC85776;BAG36746;CBH19382;CBH30668;EAW75114;EAW75115;NP_775827;Q8IWF9 Hs.567774 1338704;1697286 D11S1979;RH102140 FLJ42119;HSD9;MGC34732 OTTHUMP00000234627;OTTHUMP00000234628;coiled-coil domain-containing protein 83 protein-coding ENSG00000150676 28535 14586 PROVISIONAL 1605892 CCDC85A coiled-coil domain containing 85A 2 2 2 p16.1 56251690 56453674 + 56264762 56466813 + 56411258 56613309 + 6480464 11572484;21102462;12477932;20379614;21900206 114800 Q96PX6 AB067499;ABBA01075280;ABBA01075281;ABBA01075282;ABBA01075283;AC007743;AC007744;AMYH01010368;BC131557;CH471053;NM_001080433 AAI31558;AAI56396;AAI57124;BAB67805;EAX00077;NP_001073902;Q96PX6 Hs.117136 1675953;1741323;1784132;2175598 GDB:180455;RH94185;SHGC-154452;SHGC-36792 KIAA1912 OTTHUMP00000201047;OTTHUMP00000201056;coiled-coil domain-containing protein 85A protein-coding ENSG00000055813 29400 PROVISIONAL 736330 CCDC80 coiled-coil domain containing 80 3 3 3 q13.2 110732063 110768628 - 113806097 113842667 - 112323407 112359977 - 6480464 18029348;18178152;15998583;15563452;15489334;15325258;14702039;12477932;11812002;8889548;21145461;16341674;21871888;21628590;209648;23042114 151887 C9J8I6;H7C5K4;Q76M96 AB052098;AB266387;ABBA01061660;AC048334;AF506819;AK075210;AK292881;AK304561;AL833034;AMYH01013392;AY333429;AY526612;AY548106;AY548107;AY726593;BC023639;BC042105;BC042128;BC073164;BC086876;BC110842;BC116178;BC116179;BM787873;BX647117;BX647817;CH471052;NM_199511;NM_199512 AAH42105;AAH73164;AAH86876;AAI10843;AAI16179;AAM33633;AAQ96742;AAS66643;AAS66644;AAS92235;BAC11475;BAD05134;BAF48770;BAF85570;BAG65354;CAH56167;CAH56178;CAH56325;EAW79663;EAW79664;EAW79665;NP_955805;NP_955806;Q76M96 Hs.477128 1687610;1698522;1777918;1854863;2130462;5017785;5111490 CCDC80;D3S3894;RH102812;RH80490;SHGC-77203;SHGC-77206;STS-N24008 DRO1;MGC131805;MGC134851;SSG1;URB;okuribin OTTHUMP00000214595;OTTHUMP00000214596;OTTHUMP00000214599;coiled-coil domain-containing protein 80;down-regulated by oncogenes protein 1;nuclear envelope protein okuribin;steroid sensitive gene 1;up-regulated in BRS-3 deficient mouse homolog protein-coding ENSG00000091986 30649 10508 608298 VALIDATED 1602861 CCDC82 coiled-coil domain containing 82 11 11 11 q21 93386131 93423283 - 95725590 95762709 - 96085929 96123083 - 6480464 17353931;17081983;16344560;15489334;14702039;12477932;11042152;10931946;8889548 79780 E9PMD6;F5H777;Q8N4S0 ABBA01040006;AF161533;AF245436;AK027171;AK056790;AK074306;AK313893;AK314669;AMYH01003973;AP000848;AP003781;BC018663;BC033726;BM678039;BU742709;CH471065;DA801410;NM_024725 AAF29020;AAG44484;AAH18663;AAH33726;ACE86639;ACE87321;ADZ15672;BAB15683;BAG36616;BAG37226;BAG51809;EAW66979;EAW66980;EAW66981;EAW66982;EAW66983;EAW66984;EAW66985;NP_079001;Q8N4S0 Hs.525088 2126034 STS-R68789 FLJ23518;HSPC048 HSPC048 protein;OTTHUMP00000236426;OTTHUMP00000236427;coiled-coil domain-containing protein 82 protein-coding ENSG00000149231 26282 08033 VALIDATED 1605406 CCDC85B coiled-coil domain containing 85B Hepatitis delta virus (HDV) is a pathogenic human virus whose RNA genome and replication cycle resemble those of plant viroids. Delta-interacting protein A (DIPA), a cellular gene product, has been found to have homology to hepatitis delta virus antigen (HDAg). DIPA interacts with the viral antigen, HDAg, and can affect HDV replication in vitro. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 62981782 62983013 + 65414451 65415682 + 65657875 65659106 + 6480464 16189514;17014843;16713569;15644333;15489334;12477932;9115212;8848724;8810253;15605074;17873903;17207965;23128233 11007 Q15834 ABBA01024097;AI583181;AK312109;AMYH01003727;AP006287;BC008796;CH471076;NM_006848;U63825 AAB05928;AAH08796;ADQ32425;BAG35045;EAW74468;NP_006839;Q15834 Hs.66713 1668826;2158918 RH47013;STS-U63825 DIPA OTTHUMP00000234060;coiled-coil domain-containing protein 85B;delta-interacting protein A;hepatitis delta antigen interacting protein A;hepatitis delta antigen-interacting protein A APPROVED protein-coding ENSG00000175602 24926 16101 605360 VALIDATED 1602413 CCDC84 coiled-coil domain containing 84 This gene encodes a protein thought to contain a coiled coil motif. No function has been determined for the encoded protein. A pseudogene of this gene is located on chromosome 20. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 11 11 11 q23.3 116026304 116043591 + 118374062 118391665 + 118868852 118886455 + 6480464 15489334;12477932;8889548 338657 E9PJ16;E9PPT8;Q86UT8 AB094093;ABBA01039681;ABBA01039682;AMYH01004080;AP003392;AW014772;BC126469;BC126471;BC144208;BC144209;BC144210;BG251503;BU733365;CH471065;DB565963;HY073607;NM_198489;NR_104049;NR_104050;NR_104051 AAI26470;AAI26472;ADR83140;BAC76047;EAW67422;EAW67423;EAW67424;NP_940891;Q86UT8 Hs.534613 1697318;1701242;1738125 D11S3747;RH102156;RH104249 DLNB14 OTTHUMP00000232693;coiled-coil domain-containing protein 84 protein-coding ENSG00000186166 30460 13234 REVIEWED 1344482 CCDC85C coiled-coil domain containing 85C 14 14 14 q32.31 80032485 80125607 - 99046540 99140110 - 99977603 100070727 - 6480464 16344560;15489334;14702039;12508121;12477932;11181995;20360068 317762 A6NKD9;G3V2D7;G3V4C8;G3V5D5;H0YJE0;H0YJY5 ABBA01048555;ABBA01048556;ABBA01048557;ABBA01048558;AK026211;AK093969;AK096927;AK123840;AL110504;AL160313;AMYH01005993;AMYH01005994;AMYH01005995;BC029998;BC031990;BC110042;NM_001144995 A6NKD9;BAB15395;BAC04260;NP_001138467 Hs.709288 1657376;1660974;1661577;1697236;1730323;1773588;1797354;1849208;2141700;2149968;2184709;5093876;7187556 A009Y14;AFMB048YF1;CCNK_1614.3;D14S90E;G32976;G35001;G35350;G35787;RH102112;RH1621;RH44755;RH69937 FLJ22558;MGC117455 OTTHUMP00000246255;OTTHUMP00000246257;OTTHUMP00000246259;coiled-coil domain-containing protein 85C protein-coding ENSG00000205476 35459 VALIDATED 1604295 CCDC86 coiled-coil domain containing 86 11 11 11 q12.2 57970276 57979408 + 60366005 60375137 + 60609429 60618561 + 6480464 17300783;16344560;15302935;12477932;16169070;15607035;16751776;19913121;20628086;19851296;20198315;18029348;22586326;21890473 79080 B4DY99;H0YG79;Q9H6F5 ABBA01021516;AI018490;AK025974;AK123775;AK302329;AMYH01003668;AP000777;BC001378;BE795888;CH471076;DA292314;DQ501251;DQ587658;NM_024098 AAH01378;ABF68612;ABM83529;ABM86770;BAB15304;BAC85689;BAG63661;EAW73901;NP_077003;Q9H6F5 Hs.4253 1680693;2144223;2151624 IB1021;RH11821;RH67900 FLJ22321;MGC2574 OTTHUMP00000236554;OTTHUMP00000236805;coiled-coil domain-containing protein 86;cyclon;cytokine-induced protein with coiled-coil domain protein-coding ENSG00000110104 28359 08322 611293 VALIDATED 1346283 CCDC90AP1 coiled-coil domain containing 90A pseudogene 1 17 17 p13.3 2046744 2047594 - 2030722 2031572 - 53383 ABBA01054693;AC090617;AMYH01008008;NG_026139 C17orf23 hypothetical protein LOC53383;uncharacterized protein LOC53383 APPROVED pseudo 1217 INFERRED 1602481 CCDC87 coiled-coil domain containing 87 11 11 q13.2 66114216 66117130 - 66357640 66360554 - 6480464 16189514;14702039;12477932;17643375;21926972 55231 Q9NVE4 ABBA01024072;AI391530;AK001648;AMYH01003735;AP001157;BC034469;NG_008733;NM_018219 AAH34469;BAA91808;NP_060689;Q9NVE4 Hs.121072 FLJ10786 OTTHUMP00000235517;coiled-coil domain-containing protein 87 protein-coding ENSG00000182791 25579 07699 VALIDATED 1348427 CCDC9 coiled-coil domain containing 9 19 19 19 q13.32 44563607 44579090 + 52451632 52467050 + 47759731 47775210 + 737633;6480464 12477932 16341674;15489334;15302935;11256614;11230166;20360068;21044950 26093 B4DXW2;M0QYB4;M0QZR0;M0R2W0;Q9Y3X0 ABBA01041018;ABBA01041019;AC008532;AK302153;AL050284;AMYH01009880;AMYH01009881;AMYH01009882;BC002787;BC009743;BM737911;CH471126;CR977312;NM_015603 AAH02787;AAH09743;ADZ15464;BAG63524;CAB43385;EAW57468;NP_056418;Q9Y3X0 Hs.227782 2109115 CCDC9_9457 DKFZp586M1019 coiled-coil domain-containing protein 9 protein-coding ENSG00000105321 24560 10813 VALIDATED 1604894 CCDC88C coiled-coil domain containing 88C This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013] 14 14 14 q32.11 71786122 71932885 - 90807420 90953886 - 91737667 91884188 - 6480464;7240710 14750955;17185515;14702039;12477932;10819331;9110174;8619474;22558309;16751776;21031079;23042809;21900206;21832049;23184937 440193 B4DZB8;G3V3S0;H0YJX5;Q0P665;Q9P219 ABBA01030480;ABBA01030481;AF070587;AK022593;AK302839;AL133153;AL135818;AL137353;AL833046;AMYH01005951;AMYH01005952;BC028565;BC032316;BC035914;BX248302;BX283171;CH471061;CR747498;CR998718;DC402942;DR006516;EG328265;NG_033118;NM_001080414 AAH28565;AAH32316;AAH35914;ADZ15600;BAB14119;BAG64030;CAD62629;CAH10602;EAW81451;NP_001073883;Q9P219 Hs.525536 1656232;1731615;1736396;1777937;2139690;2148386;2150755;2154353;2169864 D14S169;D14S655E;FB17H5;G35614;G35778;G36140;SHGC-32353;SHGC-63659;WI-21906 DAPLE;FLJ00354;HYC;HkRP2;KIAA1509 Dvl-associating protein with a high frequency of leucine residues;OTTHUMP00000245079;coiled-coil domain-containing protein 88C;hDaple;hook-related protein 2;protein Daple protein-coding ENSG00000015133 19967 236600;611204 REVIEWED 1603867 CCDC88B coiled-coil domain containing 88B This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009] 11 11 11 q12.3 61433773 61451010 + 63864271 63881582 + 64107690 64125006 + 6480464 22837380;14667819;15882442;14702039;12477932;11230166;21289099;20936779;23128233 283234 A6NC98;B2RTU8;H7BY33 ABBA01003298;ABBA01003299;ABBA01003300;AK074126;AK090436;AK095289;AK126728;AL136799;AMYH01003706;AP003774;AY491401;BC030194;BC040232;BC140822;BC140824;BC141866;BC151218;BC151222;BE222756;NM_032251 A6NC98;AAH40232;AAI40823;AAI40825;AAI41867;AAR83719;BAB84952;BAC03417;CAB66733;NP_115627 Hs.98564 1769054;5109281;5119447 D1S1425;D20S984;G33078 BRLZ;CCDC88;DKFZp434G0920;FLJ00354;FLJ37970;HkRP3;gipie 78 kDa glucose-regulated protein [GRP78]-interacting protein induced by ER stress;GRP78-interacting protein induced by ER stress;OTTHUMP00000042630;brain leucine zipper domain-containing protein;brain leucine zipper protein;coiled-coil domain-containing protein 88B;hook-related protein 3 APPROVED protein-coding ENSG00000168071 26757 10986 611205 REVIEWED 1347801 CCDC88A coiled-coil domain containing 88A This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 2 2 p16.1 55368482 55500467 - 55514978 55647057 - 6480464 16139227;15882442;15749703;19211784;18663145;18316593;18264090;16344560;15753085;14702039;12477932;10574462;20515748;20974669;20157114;20379614;20936779;20462955;16751776;21209316;23066027;22714912;22755556;23195430;22990118;21799016;14676191;20132219;21954290;22020337;23051738;23349634;17043677;21998595;21139048;21906983;22308453;22574214;22116776;23184937;22780975 55704 B3KW94;C9J225;H0Y470;H0Y7K3;H0Y7U8;H7C2C6;O14997;Q7Z3C5 AB033038;AB125644;AB201172;ABBA01075266;ABBA01075267;AC012358;AC019198;AC092176;AF112218;AK001254;AK024717;AK025723;AK124603;AK124761;AK299823;AK307964;AL036590;AMYH01010362;AV728179;BC014905;BC015539;BC032683;BC035848;BC041160;BC045829;BC056885;BC060037;BC078168;BC092515;BC132736;BC142646;BC142700;BC144320;BU570532;BX537985;BX538154;BX647874;BX648138;CH471053;D64159;DA488073;NG_031944;NM_001135597;NM_001254943;NM_018084 AAF17206;AAH41160;AAH60037;AAH78168;AAI32737;AAI44321;AAX82029;AAY14932;BAA21515;BAA86526;BAA91584;BAE44387;BAF44475;BAG54056;BAG61692;CAD97945;CAD98038;CAI46020;EAX00099;EAX00100;EAX00101;NP_001129069;NP_001241872;NP_060554;Q3V6T2 Hs.292925 1665144;1665146;1668830;1670106;1673326;1676962;1682934;1690326;1717507;1778129;5016700;5020946;5022200;5022450;5037552;5037554;5126408;7186386 A006B27;D10S275;D2S1285;D2S137;D8S2279;D8S2282;G20678;L17971;L18426;RH122259;RH12571;RH69376;RH79802;RH79821;RH92651;RH93856;UniSTS:15027;WI-22280 APE;DKFZp686D0630;GIRDIN;GIV;GRDN;HkRP1;KIAA1212 AKT-phosphorylation enhancer;Galpha-interacting vesicle-associated protein;G{alpha}-interacting vesicle-associated protein;Hook-related protein 1;OTTHUMP00000200778;OTTHUMP00000201690;akt phosphorylation enhancer;coiled-coil domain-containing protein 88A;g alpha-interacting vesicle-associated protein;girders of actin filament;girders of actin filaments;girdin APPROVED protein-coding ENSG00000115355 25523 10051;11131 609736 REVIEWED 1602421 CCDC89 coiled-coil domain containing 89 11 11 11 q14.1 82704196 82706623 - 85072541 85074968 - 85394893 85397320 - 6480464 15489334;15188402;14702039;12477932 220388 Q8N998 ABBA01017336;AK095478;AMYH01003848;AP000642;BC044814;CH471076;NM_152723 AAH44814;BAC04556;EAW75106;NP_689936;Q8N998 Hs.376241 FLJ38159 OTTHUMP00000234605;bc8 orange-interacting protein;coiled-coil domain-containing protein 89 protein-coding ENSG00000179071 26762 08234 PROVISIONAL 1605354 CCDC90B coiled-coil domain containing 90B 11 11 11 q14.1 80282156 80307022 - 82650150 82675025 - 82972506 82997377 - 6480464 16169070;14702039;12477932;11256614;11230166;8125298;18029348;20877624;21900206 60492 B3KP87;E9PKQ5;E9PMQ7;E9PNI8;E9PPJ7;E9PRC2;E9PSG6;H0YD95;H0YF06;J3KN19;Q9GZT6 ABBA01017362;AF182412;AF182424;AF271782;AK055972;AK225726;AK304769;AK315787;AL136791;AMYH01003839;AP000873;BC014573;BC017771;BC020783;BC032701;BC048795;BC067764;BC107755;CH471076;NM_021825 AAG14948;AAG14960;AAG44793;AAH14573;AAH20783;AAI07756;BAG38133;BAG51599;BAG65524;CAB66725;EAW75088;EAW75089;EAW75090;EAW75091;NP_068597;Q9GZT6 Hs.368866 1645423;1772126;1846803;2129424;2135953;2152060 A004O44;A006K03;D11S2267E;SHGC-50338;WI-13569;WI-13893 MDS011;MDS025;MGC104239 OTTHUMP00000235040;OTTHUMP00000235041;OTTHUMP00000235042;OTTHUMP00000235044;OTTHUMP00000235081;OTTHUMP00000235083;coiled-coil domain-containing protein 90B, mitochondrial protein-coding 28108 14378 PROVISIONAL 1604596 CCDC92 coiled-coil domain containing 92 12 12 12 q24.31 124020731 124056999 - 122986908 123023116 - 124420955 124457163 - 6480464 15489334;14702039;12477932;16169070;17207965;20936779;19936222;8125298;19322201;20686565 80212 B3KNQ0;F5GXK2;F5H285;F5H2Z7;F5H7P8;Q53HC0 AB015292;ABBA01060388;AC068790;AC079315;AK026124;AK054680;AK124358;AK125866;AK222661;AMYH01004842;BC017186;CH471054;NM_025140 AAH17186;ADQ32283;BAB15366;BAB82436;BAD96381;BAG51412;BAG54259;EAW98438;EAW98439;EAW98440;NP_079416;Q53HC0 Hs.713131 1657279;1660601;1665799;1697910;1772200;1782522;2106787;2106789 A004O46;D12S2066;GC32S03;GC32S043;RH102483;SHGC-104021;STS-Z41302;WI-12482 FLJ22471 OTTHUMP00000239286;OTTHUMP00000239293;OTTHUMP00000239295;coiled-coil domain-containing protein 92;limkain beta 2;limkain beta-2 protein-coding ENSG00000119242 29563 16919 PROVISIONAL 1602452 CCDC97 coiled-coil domain containing 97 19 19 19 q13.2 38616246 38630939 + 46507934 46522628 + 41816094 41830788 + 6480464 14702039;12477932;19692168;20936779;16055720;20360068 90324 M0QXS4;M0QZY6;Q96F63 ABBA01040803;AC011462;AK097586;AL833726;AMYH01009819;BC007575;BC011577;BC019597;CH471126;CS674264;CS805737;HC919734;HC919945;NM_052848 AAH07575;AAH11577;CAH56251;CAP12292;CAP40173;CBN73464;CBN73469;EAW57030;EAW57031;NP_443080;Q96F63 Hs.437497 1852267 WI-14864 FLJ40267;MGC20255 coiled-coil domain-containing protein 97 protein-coding ENSG00000142039 28289 14467 PROVISIONAL 1605359 CCDC91 coiled-coil domain containing 91 12 12 12 p11.22 33556106 33849062 + 28301400 28594366 + 28410133 28703099 + 6480464 17596511;15489334;14702039;12858163;12808037;12477932;8889548;16189514;20379614;20808825;22990118;18029348;21139048;20881960;23251661 55297 F5GWB1;F5GWR1;F5GXK6;F5GZH9;F5H3Z8;F5H4N8;H0YFR6;H0YGB4;H0YGN9;H0YH48;H0YH50;Q05D28;Q7Z6B0 ABBA01068060;ABBA01068061;AC022079;AC024939;AC046131;AC084754;AK001950;AK093152;AK309181;AL570537;AMYH01004354;AMYH01004355;AMYH01004356;AMYH01004357;AY251168;AY289196;BC018679;BC028682;BU739164;CH471094;CR457277;CR749586;NM_018318 AAH18679;AAH28682;AAP20065;AAP42284;BAA91995;BAG52665;CAG33558;CAH18385;EAW96579;EAW96580;EAW96581;EAW96582;NP_060788;Q7Z6B0 Hs.653125 1697544;1725907;1725943;1726009;1726075;2146799 G62260;G62295;G62326;G62361;RH102279;SGC44230 DKFZP779L1558;FLJ11088;HSD8;p56 GGA binding partner;GGA-binding partner;OTTHUMP00000240176;OTTHUMP00000240177;OTTHUMP00000240178;OTTHUMP00000240181;coiled-coil domain-containing protein 91;p56 accessory protein protein-coding ENSG00000123106 24855 16905 VALIDATED 1603997 CCDC94 coiled-coil domain containing 94 19 19 19 p13.3 4186494 4208470 + 4198111 4220085 + 4247111 4269085 + 6480464 17081983;15489334;14702039;12477932;21139048 55702 M0R2S3;Q9BW85 ABBA01056081;AC005578;AC008616;AF091080;AK001236;AK023988;AMYH01009329;BC000561;BC019096;CH471139;NM_018074 AAC33489;AAC72949;AAH00561;AAH19096;BAA91572;BAB14757;EAW69242;EAW69243;NP_060544;Q9BW85 Hs.21811 1697712;1734680 D19S685E;RH102374 FLJ10374 coiled-coil domain-containing protein 94 protein-coding ENSG00000105248 25518 08546 PROVISIONAL 1606687 CCER1 coiled-coil glutamate-rich protein 1 12 12 12 q21.33 91017121 91020082 - 89870123 89873084 - 91345992 91348953 - 6480464 16189514;12477932;17967063 196477 H0YHB9;Q8TC90 ABBA01053409;AC078873;AMYH01004652;BC024183;BC026075;BC027600;BC034491;CH471054;HC006804;HC044817;NM_152638 AAH24183;AAH26075;AAH27600;AAH34491;CBH19208;CBH30738;EAW97443;NP_689851;Q8TC90 Hs.128574 1687427;1698356 RH102719;RH98621 C12orf12;MGC26598 OTTHUMP00000242884;coiled-coil domain-containing glutamate-rich protein 1;hypothetical protein LOC196477;uncharacterized protein C12orf12 APPROVED protein-coding ENSG00000197651 28373 14505 PROVISIONAL 1603873 CCDC96 coiled-coil domain containing 96 4 4 4 p16.1 6945993 6948145 - 7093477 7095629 - 7042576 7044728 - 6480464 16344560;15489334;14702039;12477932 257236 Q2M329 ABBA01012736;AC097382;AK075056;AMYH01013921;BC105055;BC112274;BQ009685;CH471131;CQ783834;DB045256;NM_153376 AAI05056;AAI12275;ADR83062;BAC11373;CAF86884;EAW82373;NP_699207;Q2M329 Hs.656757 2187599 RH36525 FLJ90575;MGC138479 OTTHUMP00000155166;coiled-coil domain-containing protein 96 protein-coding ENSG00000173013 26900 08297 VALIDATED 1603642 CCDC93 coiled-coil domain containing 93 2 2 2 q14.1 112000384 112098933 - 118389617 118488167 - 118673054 118771739 - 6480464 16381901;15815621;15489336;15489334;14702039;12477932;11076863;9110174;8619474;16344560;17043677;21139048;21906983;21628590;22070227;22797925 54520 F8W9X7;H7C050;Q567U6 AB209993;ABBA01045944;ABBA01045945;AC009303;AC009404;AF070582;AK001858;AK025611;AK057926;AK124683;AK290722;AK309040;AL050001;AMYH01010985;AY726577;BC005078;BC012052;BC028609;BC080559;BC093018;BU621185;CH471103;DB084596;NM_019044 AAH28609;AAH93018;AAX88948;AAX88949;AAX93279;BAA91945;BAB15188;BAE06075;BAF83411;CAL38066;CAL38380;CAL38575;EAW95197;EAW95198;NP_061917;Q567U6 Hs.107845 1651386;1661116;1676924;1798342;1798378;1798560;1798802;1798882;1798942;1800812;1800936;1801036;1801090;1801544;1802924;1804358;1804794;1805802;1805962;1806366;1806424;1806646;1806836;1806896;1806898;1808536;1808672;1808978;1809094;1809334;1809644;1810202;1810364;1810500;1810866;1810938;1811086;1811552;1812044;1812114;1812656;1813026;1813892;1814220;1814712;1814714;1815558;1818684;1818950;1818952;1819268;1819338;1819742;1819940;1819942;1820424;1820564;1820862;1821082;1821218;1821346;1821970;1822042;1822044;1822186;1822320;1822614;1822920;1823144;1823196;1823608;1823770;1824200;1824510;1824822;1825152;1826342;1827250;1827502;1828908;1829714;1830082;1830142;1830494;1830756;1830956;1831004;1831654;1832178;1832962;1833386;1833696;1834572;1835154;1837576;1837774;1838018;1838650;1838764;1838896;1839744;1841348;1841826;1843412;1843842;1843934;1844244;1844772;1844816;1844972;1845456;1845868;1852888;1878532;1878534;1878536;1878538;1878540;1878542;1878544;1878546;1878548;1878550;1878552;1878554;1878556;1878558;1878560;1878562;1878564;1878566;1878568;1878570;1878572;1878574;1878576;1878578;1878580;1878582;1878584;1878586;1878588;1878590;1878592;1878594;1878596;1878598;1878600;1878602;1878604;1878606;1878608;1878610;1878612;1878614;1878616;1878618;1878620;1878622;1878624;1878626;1878628;1878630;1878632;1878634;1878636;1878638;1878640;1878642;1878644;1878646;1878648;1878650;1878652;1878654;1878656;1878658;1878660;1878662;1878664;1878666;1878668;1878670;1878672;1878674;1878676;1878678;1878680;1878682;1878684;1878686;1878688;1878690;1878692;1878694;1878696;1878698;1878700;1878702;1878704;1878706;1878708;1878710;1878712;1878714;1878716;1878718;1878720;1878722;1878724;1878726;1878728;1878730;1878732;1878734;1878736;1878738;1878740;1878742;1878744;1878746;1878748;1878750;1878752;1878754;1878756;1878758;1878760;1878762;1878764;1878766;1878768;1878770;1878772;1878774;1878776;1878778;1878780;1878782;1878784;1878786;1878788;1878790;1878792;1878794;1878796;1878798;1878800;1878802;1878804;1878806;1878808;1878810;1878812;1878814;1878816;1878818;1878820;1878822;1878824;1878826;1878828;1878830;1878832;1878834;1878836;1878838;1878840;1878842;1878844;1878846;1878848;1878850;1878852;1878854;1878856;1878858;1878860;1878862;1878864;1878866;1878868;1878870;1878872;1878874;1878876;1878878;1878880;1878882;1878884;1878886;1878888;1878890;1878892;1878894;1878896;1878898;1878900;1878902;1878904;1878906;1878908;1878910;1878912;1878914;1878916;1878918;1878920;1878922;1878924;1878926;1878928;1878930;1878932;1878934;1878936;1878938;1878940;1878942;1878944;1878946;1878948;1878950;1878952;1878954;1878956;1878958;1878960;1878962;1878964;1878966;1878968;1878970;1878972;1878974;1878976;1878978;1878980;1878982;1878984;1878986;1878988;1878990;1878992;1878994;1878996;1878998;1879000;1879002;1879004;1879006;1879008;1879010;1879012;1879014;1879016;1879018;1879020;1879022;1879024;1879026;1879028;1879030;1879032;1879034;1879036;1879038;1879040;1879042;1879044;1879046;1879048;1879050;1879052;1879054;1879056;1879058;1879060;1879062;1879064;1879066;1879068;1879070;1879072;1879074;1879076;1879078;1879080;1879082;1879084;1879086;1879088;1879090;1879092;1879094;1879096;1879098;1879100;1879102;1879104;1879106;1879108;1879110;1879112;1879114;1879116;1879118;1879120;1879122;1879124;1879126;1879128;1879130;1879132;1879134;1879136;1879138;1879140;1879142;1879144;1879146;1879148;1879150;1879152;1879154;1879156;1879158;1879160;1879162;1879164;1879166;1879168;1879170;1879172;1879174;1879176;1879178;1879180;1879182;1879184;1879186;1879188;1879190;1879192;1879194;1879196;1879198;1879200;1879202;1879204;1879206;1879208;1879210;1879212;1879214;1879216;1879218;1879220;1879222;1879224;1879226;1879228;1879230;1879232;1879234;1879236;1879238;1879240;1879242;1879244;1879246;1879248;1879250;1879252;1879254;1879256;1879258;1879260;1879262;1879264;1879266;1879268;1879270;1879272;1879274;1879276;1879278;1879280;1879282;1879284;1879286;1879288;1879290;1879292;1879294;1879296;1879298;1879300;1879302;1879304;1879306;1879308;1879310;1879312;1879314;1879316;1879318;1879320;1879322;1879324;1879326;1879328;1879330;1879332;1879334;1879336;1879338;1879340;1879342;1879344;1879346;1879348;1879350;1879352;1879354;1879356;1879358;1879360;1879362;1879364;1879366;1879368;1879370;1879372;1879374;1879376;1879378;1879380;1879382;2119624;2131122;2199714;2199716;2199718;2199720;2199722;2199724;2199726;2199728;2199730;2199732;2199734;2199736;2199738;2199740;2199742;2199744;2199746;2199748;2199750;2199752;2199754;2199756;2199758;2199760;2199762;2199764;2199766;2199768;2199770;2199772;2199774;2199776;2199778;2199780;2199782;2199784;2199786;2199788;2199790;2199792;2199794;2199796;2199798;2199800;2199802;2199804;2199806;2199808;2199810;2199812;2199814;2199816;2199818;2199820;2199822;2199824;2199826;2199828;2199830;2199832;2199834;2199836;2199838;2199840;2199842;2199844;2199846;2199848;2199850;2199852;2199854;2199856;2199858;2199860 A004X42;ECD00006;ECD00025;ECD00119;ECD00241;ECD00281;ECD00312;ECD01268;ECD01333;ECD01385;ECD01414;ECD01650;ECD02351;ECD03103;ECD03330;ECD03852;ECD03934;ECD04138;ECD04168;ECD04280;ECD04383;ECD04413;ECD04414;ECD05250;ECD05318;ECD05472;ECD05535;ECD05658;ECD05814;ECD06093;ECD06174;ECD06243;ECD06431;ECD06467;ECD06541;ECD06779;ECD07027;ECD07062;ECD07338;ECD07532;ECD07973;ECD08139;ECD08387;ECD08388;ECD08815;ECD10406;ECD10540;ECD10541;ECD10701;ECD10736;ECD10941;ECD11041;ECD11042;ECD11287;ECD11357;ECD11507;ECD11618;ECD11686;ECD11756;ECD12071;ECD12107;ECD12108;ECD12179;ECD12248;ECD12395;ECD12548;ECD12660;ECD12687;ECD12896;ECD12977;ECD13197;ECD13353;ECD13510;ECD13677;ECD14284;ECD14740;ECD14867;ECD15581;ECD15989;ECD16174;ECD16204;ECD16382;ECD16514;ECD16614;ECD16638;ECD16964;ECD17227;ECD17622;ECD17836;ECD17993;ECD18434;ECD18732;ECD19955;ECD20057;ECD20180;ECD20499;ECD20560;ECD20627;ECD21055;ECD21870;ECD22114;ECD22915;ECD23132;ECD23179;ECD23335;ECD23602;ECD23624;ECD23702;ECD23946;ECD24153;REN10000;REN10001;REN10002;REN10003;REN10004;REN10005;REN10006;REN10007;REN10008;REN10009;REN10010;REN10011;REN10012;REN10013;REN10014;REN10015;REN10016;REN10017;REN10018;REN10019;REN10020;REN10021;REN10022;REN10023;REN10024;REN10025;REN10026;REN10027;REN10028;REN10029;REN10030;REN10031;REN10032;REN10033;REN10034;REN10035;REN10036;REN10037;REN10038;REN10039;REN10040;REN10041;REN10042;REN10043;REN10044;REN10045;REN10046;REN10047;REN10048;REN10049;REN10050;REN10051;REN10052;REN10053;REN10054;REN10055;REN10056;REN10057;REN10058;REN10059;REN10060;REN10061;REN10062;REN10063;REN10064;REN10065;REN10066;REN10067;REN10068;REN10069;REN10070;REN10071;REN10072;REN10073;REN10074;REN10075;REN10076;REN10077;REN10078;REN10079;REN10080;REN10081;REN10082;REN10083;REN10084;REN10085;REN10086;REN10087;REN10088;REN10089;REN10090;REN10091;REN10092;REN10093;REN10094;REN10095;REN10096;REN10097;REN10098;REN10099;REN10100;REN10101;REN10102;REN10103;REN10104;REN10105;REN10106;REN10107;REN10108;REN10109;REN10110;REN10111;REN10112;REN10113;REN10114;REN10115;REN10116;REN10117;REN10118;REN10119;REN10120;REN10121;REN10122;REN10123;REN10124;REN10125;REN10126;REN10127;REN10128;REN10129;REN10130;REN10131;REN10132;REN10133;REN10134;REN10135;REN10136;REN10137;REN10138;REN10139;REN10140;REN10141;REN10142;REN10143;REN10144;REN10145;REN10146;REN10147;REN10148;REN10149;REN10150;REN10151;REN10152;REN10153;REN10154;REN10155;REN10156;REN10157;REN10158;REN10159;REN10160;REN10161;REN10162;REN10163;REN10164;REN10165;REN10166;REN10167;REN10168;REN10169;REN10170;REN10171;REN10172;REN10173;REN10174;REN10175;REN10176;REN10177;REN10178;REN10179;REN10180;REN10181;REN10182;REN10183;REN10184;REN10185;REN10186;REN10187;REN10188;REN10189;REN10190;REN10191;REN10192;REN10193;REN10194;REN10195;REN10196;REN10197;REN10198;REN10199;REN10200;REN10201;REN10202;REN10203;REN10204;REN10205;REN10206;REN10207;REN10208;REN10209;REN10210;REN10211;REN10212;REN10213;REN10214;REN10215;REN10216;REN10217;REN10218;REN10219;REN10220;REN10221;REN10222;REN10223;REN10224;REN10225;REN10226;REN10227;REN10228;REN10229;REN10230;REN10231;REN10232;REN10233;REN10234;REN10235;REN10236;REN10237;REN10238;REN10239;REN10240;REN10241;REN10242;REN10243;REN10244;REN10245;REN10246;REN10247;REN10248;REN10249;REN10250;REN10251;REN10252;REN10253;REN10254;REN10255;REN10256;REN10257;REN10258;REN10259;REN10260;REN10261;REN10262;REN10263;REN10264;REN10265;REN10266;REN10267;REN10268;REN10269;REN10270;REN10271;REN10272;REN10273;REN10274;REN10275;REN10276;REN10277;REN10278;REN10279;REN10280;REN10281;REN10282;REN10283;REN10284;REN10285;REN10286;REN10287;REN10288;REN10289;REN10290;REN10291;REN10292;REN10293;REN10294;REN10295;REN10296;REN10297;REN10298;REN10299;REN10300;REN10301;REN10302;REN10303;REN10304;REN10305;REN10306;REN10307;REN10308;REN10309;REN10310;REN10311;REN10312;REN10313;REN10314;REN10315;REN10316;REN10317;REN10318;REN10319;REN10320;REN10321;REN10322;REN10323;REN10324;REN10325;REN10326;REN10327;REN10328;REN10329;REN10330;REN10331;REN10332;REN10333;REN10334;REN10335;REN10336;REN10337;REN10338;REN10339;REN10340;REN10341;REN10342;REN10343;REN10344;REN10345;REN10346;REN10347;REN10348;REN10349;REN10350;REN10351;REN10352;REN10353;REN10354;REN10355;REN10356;REN10357;REN10358;REN10359;REN10360;REN10361;REN10362;REN10363;REN10364;REN10365;REN10366;REN10367;REN10368;REN10369;REN10370;REN10371;REN10372;REN10373;REN10374;REN10375;REN10376;REN10377;REN10378;REN10379;REN9953;REN9954;REN9955;REN9956;REN9957;REN9958;REN9959;REN9960;REN9961;REN9962;REN9963;REN9964;REN9965;REN9966;REN9967;REN9968;REN9969;REN9970;REN9971;REN9972;REN9973;REN9974;REN9975;REN9976;REN9977;REN9978;REN9979;REN9980;REN9981;REN9982;REN9983;REN9984;REN9985;REN9986;REN9987;REN9988;REN9989;REN9990;REN9991;REN9993;REN9994;REN9995;REN9996;REN9997;REN9998;REN9999;RH11708;RH75451;SHGC-33355;STS-AA018412;WI-14026;stSG618922;stSG618923;stSG618924;stSG618925;stSG618926;stSG618927;stSG618928;stSG618929;stSG618930;stSG618931;stSG618932;stSG618933;stSG618934;stSG618937;stSG618938;stSG618939;stSG618940;stSG618941;stSG618942;stSG618943;stSG618944;stSG618945;stSG618946;stSG618947;stSG618948;stSG618949;stSG618950;stSG618951;stSG618952;stSG618953;stSG618954;stSG618955;stSG618956;stSG618957;stSG618958;stSG618960;stSG618961;stSG618962;stSG618963;stSG618964;stSG618965;stSG618966;stSG618967;stSG618968;stSG618969;stSG618970;stSG618971;stSG618972;stSG618974;stSG618975;stSG618976;stSG618977;stSG618978;stSG618979;stSG618980;stSG618981;stSG618982;stSG618983;stSG618984;stSG618985;stSG618986;stSG618987;stSG618988;stSG618989;stSG618990;stSG618991;stSG618992;stSG618993;stSG618994;stSG618995;stSG618996;stSG618997;stSG618998;stSG619000 FLJ10996;FLJ25197;MGC13033 OTTHUMP00000064463;OTTHUMP00000180677;coiled-coil domain-containing protein 93 protein-coding ENSG00000125633 25611 08557 VALIDATED 1343153 CCIN calicin The protein encoded by this gene is a basic protein of the sperm head cytoskeleton. This protein contains kelch repeats and a BTB/POZ domain and is necessary for normal morphology during sperm differentiation. This gene is intronless. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 36102976 36104918 + 36159391 36161320 + 36169389 36171331 + 1580863;6480464 12477932;11090452;7641791;21832049 881 Q13939;Q8WWB2;Q8WX35 AA420997;ABBA01050434;AF333334;AK313763;AL158830;AMYH01019348;BC019251;CH471071;NM_005893;Z46967 AAH19251;AAK20829;ABM81752;ABM84906;ABM84908;ABW03306;BAG36501;CAA87088;EAW58313;EAW58314;NP_005884;Q13939 Hs.115460 2137098;2218348 CCIN_4526;RH71317 BTBD20 OTTHUMP00000021373;calicin APPROVED protein-coding ENSG00000185972 1568 04907 603960 REVIEWED 1345074 CCL12 chemokine (C-C motif) ligand 12 337987 AF065934 19148 735565 CCKBR cholecystokinin B receptor This gene encodes a G-protein coupled receptor for gastrin and cholecystokinin (CCK), regulatory peptides of the brain and gastrointestinal tract. This protein is a type B gastrin receptor, which has a high affinity for both sulfated and nonsulfated CCK analogs and is found principally in the central nervous system and the gastrointestinal tract. A misspliced transcript variant including an intron has been observed in cells from colorectal and pancreatic tumors. [provided by RefSeq, Jul 2008] 11 11 p15.4 6237542 6249932 + 6280904 6293357 + 1358454;1580863;2311323;1358452;2311333;2311332;4110816;4110823;4110829;4110821;4110822;1626108;6480464 15354400;16527403;15161757;15102523;15948246;12851875;8302799;15688412;1458479;8222074;15647484 10400698;7681836;17474147;8455720;8349705;19086053;18996102;18832011;18444993;18438722;18028338;17962809;17936921;17933865;17889508;17572695;16998832;16963136;16909104;16547500;16242076;16228228;16143134;16142371;16012719;15989082;15850403;15817487;15611055;15520004;15313848;15292208;15068617;15040018;15036586;15001692;15001623;14759564;14534299;12955087;12777967;12761477;12695525;12510010;12477932;12429993;12400008;12198366;12189558;12058027;11926817;11896205;11830556;11515749;11368834;11244486;10913157;10741470;10438490;10100325;9872672;8995203;8663021;8415658;8343165;8222757;8185170;8125298;7887934;7848914;1280419;22516348;22442157;19502590;19697327;19874574;20023595;20185366;20201926;20379614;20468064;19751565;16754659;19627395;19913121;20602615;20628086;20732371;20932834;21156802;21504585;16344560;22645275;21852362;22277584;22040601;23053898;23376640;8185642 887 E9PIC8;E9PJ49;E9PPL7;P32239 ABBA01028664;AC022762;AC068733;AF239668;AF441129;AK226020;AK292064;AK314266;AMYH01003366;AY029770;AY322551;BC000740;BT006789;CH471064;CX762706;D13305;D21219;DA297178;DQ335648;DQ335649;DQ335650;DQ335651;L04473;L07746;L08112;L10822;NG_030591;NM_176875;S70057;S76072 AAA35657;AAA35660;AAA91831;AAB30766;AAB33740;AAC37528;AAF67174;AAH00740;AAK38351;AAN32829;AAP35435;AAP84364;ABC86718;ABC86719;ABC86720;ABC86721;ABM84663;ABM92194;BAA02564;BAA04759;BAF84753;EAW68734;EAW68735;NP_795344;P32239 Hs.203 2179781 RH69002 CCK-B;CCK2R;GASR CCK-B receptor;CCK-BR;CCK2 receptor;CCK2-R;OTTHUMP00000164537;OTTHUMP00000229568;OTTHUMP00000229571;cholecystokinin-2 receptor;cholecystokinin-B receptor/gastrin receptor;gastrin receptor;gastrin/cholecystokinin type B receptor APPROVED protein-coding ENSG00000110148 1571 00323 118445 REVIEWED 1344859 CCHCR1 coiled-coil alpha-helical rod protein 1 6 6 p21.3 31218195 31233994 - 31110216 31126015 - 6480464 15146197;10888604;18305892;19242354;18174193;17530646;17340018;17221218;17179747;16713569;15654960;15539411;15214895;14702039;14675183;12909641;12477932;12023963;11875053;11348465;10545595;7566098;16141233;19551138;19851445;19915573;20379614;21743467;21810746;21912425;22182809;21139048;21890473;21906983;18029348;21988832;23144326;23189171;23263863 54535 A2ABH0;A2ABH1;A2ABH3;A2ABH4;A2ABH5;B0S7V6;B0S7V7;B0V090;B0V091;B0V092;B4DIA2;D6R9W9;D6RA02;D6RAE7;D6RB88;D6RBG1;D6RD84;D6RDI7;D6RE89;E7EPK4;E7EQC5;E7EQE8;E9PGB6;E9PHV1;Q2TB68;Q5STF0;Q769H0;Q9NXJ4 AA356205;AB029331;AB029343;AB088104;AB112474;AB112475;AB202104;ABBA01038068;ABBA01038069;AC004195;AF216493;AK000204;AK000217;AK000533;AK289446;AK295494;AK310626;AL662833;AL662844;AL773544;AMYH01016209;AY029160;BA000025;BC110534;BC110535;BX927139;CH471081;CN428429;CR457227;CR753819;CR759815;CR847794;DC357362;NM_001105563;NM_001105564;NM_019052 AAF74221;AAI10535;AAI10536;AAK55759;BAA81890;BAA82158;BAA91007;BAA91016;BAA91236;BAB63313;BAC54937;BAD05130;BAD05131;BAE78628;BAF82135;BAG58414;CAG33508;EAX03361;EAX03362;NP_001099033;NP_001099034;NP_061925;Q8TD31 Hs.485075 1768963;1790855;1790857;2181757;2191569 D6S2687;D6S2688;MARC_26584-26585:1033750163:1;RH46639;WI-15384 C6orf18;HCR;MGC126371;MGC126372;SBP HCR (a-helix coiled-coil rod homologue);OTTHUMP00000029150;OTTHUMP00000165080;OTTHUMP00000165081;OTTHUMP00000165085;OTTHUMP00000165088;StAR-binding protein;alpha-helical coiled-coil rod protein;coiled-coil alpha-helical rod protein 1;pg8;putative gene 8 protein protein-coding ENSG00000204536 13930 05607 605310 VALIDATED 731770 CCKAR cholecystokinin A receptor This gene encodes a G-protein coupled receptor that binds non-sulfated members of the cholecystokinin (CCK) family of peptide hormones. This receptor is a major physiologic mediator of pancreatic enzyme secretion and smooth muscle contraction of the gallbladder and stomach. In the central and peripheral nervous system this receptor regulates satiety and the release of beta-endorphin and dopamine. [provided by RefSeq, Jul 2008] 4 4 p15.1-p15.2 26092116 26101140 - 26483018 26492042 - 1625802;1580863;1625200;1358451;734711;2314139;4110816;4110818;4110822;4110817;6480464 12777967;16815799;10572328;9192855;15908333;12851875;9239407;8222074;10457335 19086053;18996102;18832011;18776046;18444993;17944886;17597711;17457313;17413452;17413443;16362631;15927089;15786550;15740988;15723764;15634012;15632187;15489334;15363473;15340101;15313848;15108185;15100163;14691070;14534299;12801592;12627462;12477932;12424565;12198366;11730982;11549403;11495676;11368834;11300760;10893485;10682840;10595537;10555959;10400673;10026437;9603948;8343165;8503909;9006937;7759110;7557108;21728335;21813391;18583979;19753663;19760980;19874574;20023595;20351714;20424473;20468064;20535329;16754659;19751565;20538960;20558763;19913121;20602615;20628086;20732371;18577758;22396142;22021636;22825913;23341962 886 P32238 ABBA01032727;AC093637;AK313978;AMYH01014075;AY322549;BC074987;CH471069;D85606;L13605;L19315;NG_012053;NM_000730;U23430 AAA02819;AAA35659;AAA91123;AAH74987;AAP84362;BAA90879;BAG36692;EAW92850;NP_000721;P32238 Hs.129 1851913;1852921;2149104 D4S3157;SHGC-50173;STS-L19315 CCK-A;CCK1-R;CCKRA CCK-A receptor;CCK-AR;OTTHUMP00000158717;cholecystokinin receptor type A;cholecystokinin type-A receptor;cholecystokinin-1 receptor APPROVED protein-coding ENSG00000163394 1570 00322 118444 REVIEWED 737505 CCK cholecystokinin Cholecystokinin is a brain/gut peptide. In the gut, it induces the release of pancreatic enzymes and the contraction of the gallbladder. In the brain, its physiologic role is unclear. The cholecystokinin pro-hormone is processed by endo- and exo-proteolytic cleavages. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010] 3 3 p22.1 42274322 42281399 - 42299318 42307662 - 1625798;1358450;1625802;1625799;1626086;1580863;2313635;2313638;2313636;1626108;6480464 17443025;9754694;12777967;8988922;10668930;17157334;15536283;16989746;15647484 10320330;19339394;19086053;19058789;18996102;18555802;18423848;18396340;18234641;18154642;18066654;17964616;17438102;17365745;17332474;17208296;17192493;16185316;15837012;15743365;15740988;15682471;15624269;15533776;15520004;15489334;15354400;15328192;15313848;15100163;15068617;15001692;14764444;12920059;12915664;12789687;12695525;12627463;12572876;12479974;12477932;12198366;12116188;12116180;12065614;11803530;11724786;11713985;11713982;11713976;11509018;11443535;11368834;11300760;11278902;11232009;11140838;11076522;11025367;10595537;10438490;10400673;9603948;9399627;9275097;9006937;8804068;6529856;6288173;3856870;18577758;3582983;3011648;1370477;16712791;20023595;15152034;15374756;19497313;19741117;19760980;19874574;19914303;20036221;20424473;20468064;20602615;20732371;20734064;16754659;20930049;20457200;21186400;21154912;23564449;23064014;21506165;21139048;21985915;22188045;22344221;21542221;21753024;23349895;23233532 885 P06307;Q6FG82 ABBA01024771;AC018358;AK289716;AMYH01013111;AY514491;BC008283;BC093055;BC111026;BT006991;CB154424;CB961869;CD250282;CH471055;CR542226;L00354;L29399;L29400;NM_000729;NM_001174138 AAA53094;AAH08283;AAH93055;AAI11027;AAP35637;AAR89908;ABM92185;ABW03280;ABW03283;BAF82405;CAG47022;EAW64644;EAW64645;NP_000720;NP_001167609;P06307 Hs.458426 1741425;1794326;1855866 GDB:181198;PMC311033P1;SHGC-76858 MGC117187 OTTHUMP00000209368;OTTHUMP00000209369;cholecystokinin;cholecystokinin triacontatriapeptide;prepro-cholecystokinin APPROVED protein-coding ENSG00000187094 1569 00321 118440 REVIEWED 1353511 CCL1 chemokine (C-C motif) ligand 1 This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine (C-C motif) receptor 8. [provided by RefSeq, Jul 2013] 17 17 q12 29711512 29714365 - 32687399 32690252 - 1580863;4891410;4891418;4891422;4891420;4145109;4145441;4891417;4891408;4891409;4891412;4891421;6480464 16864713;20598643;20455898;17982926;12600821;11134301;19057661;18703681;12707363 9417093;2212659;19372141;19258923;17845580;17703412;17693327;17672898;17641040;17122780;16735693;16679317;16540498;15814739;15489334;15340161;14630801;12967681;12645948;12489497;12477932;12393595;11818437;11133740;11076863;10985253;10942748;10821677;10648464;10409433;9211859;8077676;2809212;1557400;15989956;19117730;19423540;19776237;19865101;20056178;20237496;20406964;20438785;20503287;22147355;22412388;21849907;22479563;16344560;23811304 6346 P22362;Q76BR7 AB110829;ABBA01011215;AC011193;AK312183;AMYH01008350;BC105073;BC105075;CH471147;DA620119;HI574344;M57502;M57506;NM_002981 AAA52705;AAA61196;AAI05074;AAI05076;AAI11915;BAC98367;BAG35116;CBX47661;EAW80204;NP_002972;P22362 Hs.72918 1673077;1733398;1745477 D17S1270;D17S1677;GDB:607775 I-309;P500;SCYA1;SISe;TCA3 C-C motif chemokine 1;OTTHUMP00000163800;T lymphocyte-secreted protein I-309;inflammatory cytokine I-309;small inducible cytokine A1 (I-309, homologous to mouse Tca-3);small-inducible cytokine A1 APPROVED protein-coding ENSG00000108702 10609 01654 182281 REVIEWED 1351854 CCL11 chemokine (C-C motif) ligand 11 This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity for eosinophils, but not mononuclear cells or neutrophils. This eosinophil-specific chemokine is thought to be involved in eosinophilic inflammatory diseases such as atopic dermatitis, allergic rhinitis, asthma and parasitic infections. [provided by RefSeq, Jul 2013] 17 17 q12 29636800 29639312 + 32612687 32615199 + 1580863;2307177;2307196;4145448;4140459;4145411;4145415;4145432;4145451;4145457;4145479;4145482;4145442;4145450;2307108;4891485;4145387;4145393;4145395;4145392;4145441;4145443;4145445;4145455;4145458;4145460;4891487;4145452;4145462;4145389;4145437;4145439;4145477;4145447;4145461;4145472;4145481;4145471;5130930;6480464;6484113;6907045;7240710;7247743;5683918;7247742;7248410;7248413;7248417;7247740;7247741;7247739;7248411;7248414;7248412;7248408;7248409;7248415;7248416 15823807;12682842;10415058;20644177;16120080;15681407;15236177;9034156;17845580;11564646;9665468;11991282;10595930;18595729;17060636;20704746;17983873;16314464;18250471;12600821;11877329;11290805;17999785;17620002;17297249;19296494;20656925;16765544;19925666;12750406;12707338;15181185;10955955;17074272;19865101;10861753;20832583;16304252;21952467;21113841;22160777;16168564;23893332;21652218;22427838;22176730;22778179;15673311;23089405;9892814;20841614;16251415;23049540;22932891 17672898;10477718;10072545;10201960;10415069;10706854;10708591;9558100;19559392;19479237;19351767;19264973;19263529;19258923;19247692;19131662;19056482;19028820;18981162;18974840;18971287;18950617;18844613;18714023;18712274;18699931;18523302;18515987;18398743;18380907;18312691;18312459;18203973;18055844;17827376;17703412;17541284;17220216;17016617;16879311;16872505;16864713;16517749;16510147;16461130;16391516;16184405;16029496;15661912;15537425;15489334;15389872;15223611;15207712;15186951;14733956;14725564;14571188;12916705;12915771;12884299;12477932;12393570;12392390;12370400;12234713;12193745;12192108;12082592;12065904;11966763;11884459;11742272;11390394;11264152;10734104;10642580;9712872;9578468;9405404;9299399;9169149;8780731;8676064;8642344;8631813;8609214;8597956;8674119;19913121;20505746;20536507;20603037;20628086;20628624;21406396;15067078;16169070;19338989;19423540;19525930;19578796;19729601;19948975;20056178;20227754;20236835;20237496;20306659;20406964;20438785;20503287;21052690;20934424;21077277;19937162;19522186;21368236;16874958;20444156;17438849;17438850;23114905;22846146;23061798;23149666;23180368;23477905;23496801;23532518;23679817;23820464;21825098;21900206;22114952;22775568;22412388;21601544;23049769;23128233;22773402;22271279;23059958 6356 P51671;Q6I9T4 AB063614;AB063616;ABBA01011212;AC005549;AI446061;AMYH01008350;BC017850;BF197516;CH471147;CR457421;EF064768;NG_012212;NM_002986;U34780;U46572;U46573;Z69291;Z75668;Z75669;Z92709 AAA98957;AAC50369;AAC51297;AAH17850;ABK41951;ABM82895;ABM86084;CAA93258;CAA99997;CAA99998;CAB07027;CAG33702;EAW80209;NP_002977;P51671 Hs.54460 1690988;2217112 CCL11_2928;RH75873 MGC22554;SCYA11 C-C motif chemokine 11;OTTHUMP00000163793;eosinophil chemotactic protein;eotaxin;eotaxin-1;small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin);small-inducible cytokine A11 APPROVED protein-coding ENSG00000172156 10610 03098 600807;601156;609423 REVIEWED 1321539 CCL15 chemokine (C-C motif) ligand 15 This gene is located in a cluster of similar genes in the same region of chromosome 17. These genes encode CC cytokines, which are secreted proteins characterized by two adjacent cysteines. The product of this gene is chemotactic for T cells and monocytes, and acts through C-C chemokine receptor type 1 (CCR1). The proprotein is further processed into numerous smaller functional peptides. Naturally-occurring readthrough transcripts occur from this gene into the downstream gene, CCL14 (chemokine (C-C motif) ligand 14). [provided by RefSeq, Jan 2013] 17 17 q11.2 31348777 31353125 - 34324618 34329084 - 1580863;6480464 22092970;22279551;15001559;9346309;9548457;9600961;19258923;17703412;17296613;16737685;16364464;16341674;16034099;15905581;15894113;15340161;15251437;15179048;14984572;12759139;12477932;11832479;11527984;10604595;10320325;10213461;9624581;9558365;9129202;8661057;19669929;20016943;19812544;20237496;20379614;20503287;18587271;19203252;19220835;20126378;20616008;10202040;11888507;11943214;22147696 6359 H7BYL4;Q16663 ABBA01011242;AC004675;AC069363;AF031587;AF088219;AI244164;AMYH01008361;BX098368;BX497188;NM_032965;U58914 AAB94617;AAC63328;AAD10847;NP_116741;Q16663 Hs.272493 1337007;1745467;1773201 D17S758;GDB:607754;RH12877 HCC-2;HMRP-2B;LKN1;Lkn-1;MIP-1 delta;MIP-1d;MIP-5;MRP-2B;NCC-3;NCC3;SCYA15;SCYL3;SY15 C-C motif chemokine 15;CC chemokine 3;MIP-1 delta;OTTHUMP00000163955;chemokine CC-2;leukotactin 1;leukotactin-1;macrophage inflammatory protein 5;mrp-2b;new CC chemokine 3;small inducible cytokine subfamily A (Cys-Cys), member 15;small-inducible cytokine A15 APPROVED protein-coding ENSG00000267596 10613 03232 601393 VALIDATED 6904431 CCL15-CCL14 CCL15-CCL14 readthrough (NMD candidate) A cluster of CC chemokine genes exists on chromosome 17q11.2. The CC chemokines are secreted proteins characterized by two adjacent cysteines. The genes chemokine (C-C motif) ligand 14 and chemokine (C-C motif) ligand 15 are adjacent loci and express read-through transcripts spanning both loci. The read-through transcripts were originally interpreted as bicistronic transcripts, but they are represented as non-coding because they are candidates for nonsense-mediated mRNA decay (NMD). [provided by RefSeq, Dec 2009] 17 q12 34310692 34329084 - 6480464 10213461;11527984;12477932;20967262;8661057;9600961 348249 ABBA01011242;AC004675;AC069363;AMYH01008361;BC140941;NR_027921;NR_027922;Z70292;Z70293 AAI40942 Hs.272493 1337007;1745465;1745467;1773201;1776363 D17S758;GDB:607751;GDB:607754;RH12877;STS-H22017 APPROVED miscrna 44436 VALIDATED 1353724 CCL13 chemokine (C-C motif) ligand 13 This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. This chemokine plays a role in accumulation of leukocytes during inflammation. It may also be involved in the recruitment of monocytes into the arterial wall during artherosclerosis. [provided by RefSeq, Jul 2008] 17 17 q11.2 29707584 29709742 + 32683471 32685629 + 1580863;6480464 9558100;9195948;19258923;18660381;18219197;17851891;17824960;17703412;17541284;17181634;16855189;16625196;15489334;14560935;12915769;12805085;12731055;12477932;12149192;11597922;8642349;8661057;11400154;11342433;10734104;10477718;10049733;9405404;9060459;8955214;20628624;16169070;19423540;19565514;19865101;20056178;20237496;20406964;20438785;20503287;20139115;21832049;22393877;10072545;21327296;22412388;23128233 6357 J3QLQ9;Q99616 ABBA01011214;AC002482;AC011193;AJ000979;AJ001634;AMYH01008350;BC008621;BT007385;CH471147;CR450337;NM_005408;U46767;U59808;X98306;Z77650;Z77651 AAB38703;AAB67307;AAD09362;AAH08621;AAP36049;ABM82423;ABM85614;CAA04888;CAA66950;CAB01111;CAB01112;CAG29333;EAW80205;EAW80206;NP_005399;Q99616 Hs.414629 1745479;2136807;2145444;2217114 CCL13__3123;GDB:607778;RH45400;RH70645 CKb10;MCP-4;MGC17134;NCC-1;NCC1;SCYA13;SCYL1 C-C motif chemokine 13;CK-beta-10;OTTHUMP00000163804;monocyte chemoattractant protein 4;monocyte chemotactic protein 4;new CC chemokine 1;small inducible cytokine subfamily A (Cys-Cys), member 13;small-inducible cytokine A13 APPROVED protein-coding ENSG00000181374 10611 03230 601391 REVIEWED 1604060 CCL14 chemokine (C-C motif) ligand 14 This gene, chemokine (C-C motif) ligand 14, is one of several CC cytokine genes clustered on 17q11.2. The CC cytokines are secreted proteins characterized by two adjacent cysteines. The cytokine encoded by this gene induces changes in intracellular calcium concentration and enzyme release in monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Read-through transcripts are also expressed that include exons from the upstream cytokine gene, chemokine (C-C motif) ligand 15, and are represented as GeneID: 348249. [provided by RefSeq, Dec 2009] 17 17 q11.2 31334805 31337852 - 34310692 34313764 - 6480464 9405404;17353931;8551235;19258923;18602166;18367676;17703412;17691823;16344560;16341674;15489334;15338056;14718574;12477932;11527984;11085751;10978165;10213461;9600961;8661057;7829101;19553544;19632987;19812544;20379614;20503287;21937684 6358 K7END2;Q16627 AA612866;ABBA01011242;AC004675;AC069363;AF088219;AK122606;AMYH01008361;BC038289;BC045165;BC050647;BI496964;BM853193;CH471147;DA821276;NM_032962;NM_032963;Z49269;Z49270 AAC63329;AAF23982;AAH38289;AAH45165;ADR82662;CAA89263;CAA89264;EAW80105;EAW80106;EAW80107;EAW80108;NP_116738;NP_116739;Q16627 Hs.272493;Hs.740501 1745465;1776363 GDB:607751;STS-H22017 CC-1;CC-3;CKb1;FLJ16015;HCC-1;HCC-1(1-74);HCC-1/HCC-3;HCC-3;MCIF;NCC-2;NCC2;SCYA14;SCYL2;SY14 C-C motif chemokine 14;HCC-1(1-74);HCC-1/HCC-3;OTTHUMP00000176860;chemokine CC-1;chemokine CC-1/CC-3;chemokine CC-3;hemofiltrate CC chemokine 1;new CC chemokine 2;small inducible cytokine subfamily A (Cys-Cys), member 14;small-inducible cytokine A14 APPROVED protein-coding ENSG00000213494 10612 03231 601392 REVIEWED 1352726 CCL16 chemokine (C-C motif) ligand 16 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for lymphocytes and monocytes but not for neutrophils. This cytokine also shows a potent myelosuppressive activity and suppresses proliferation of myeloid progenitor cells. The expression of this gene is upregulated by IL-10. [provided by RefSeq, Jul 2008] 17 17 q11.2 31327648 31332636 - 34303535 34308523 - 1580863;6480464 15001559;9642106;19258923;17703412;17122780;16226254;15489334;15265943;15034014;14525962;12477932;11470772;10910894;10671294;10235110;10213461;9596672;9545580;8661057;18240029;19494526;20237496;20503287;18577758;2834384;21288736;22857868;21951809 6360 H0YCC1;K7ELY7;O15467 AB007454;AB018249;ABBA01011242;AC004675;AF039954;AF039955;AF055467;AF088219;AMYH01008361;BC096352;BC099662;BC099663;BC099664;CH471147;NM_004590;U91746 AAC05587;AAC28844;AAC63330;AAC97450;AAC97451;AAH99662;BAA24057;BAA35138;EAW80114;NP_004581;O15467 Hs.10458 1684076;2178132;5015619;5015861;5020946;5022651;5024756;5037552;7185938 D10S16;D11S2921;D11S3114;D17S2005;D8S2279;L17971;RH80030;RH98255 CKb12;HCC-4;ILINCK;LCC-1;LEC;LMC;MGC117051;Mtn-1;NCC-4;NCC4;SCYA16;SCYL4 C-C motif chemokine 16;IL-10-inducible chemokine;OTTHUMP00000163951;chemokine CC-4;chemokine LEC;liver CC chemokine-1;liver-expressed chemokine;lymphocyte and monocyte chemoattractant;monotactin-1;new CC chemokine 4;small inducible cytokine subfamily A (Cys-Cys), member 16;small-inducible cytokine A16 APPROVED protein-coding ENSG00000161573 10614 03233 601394 REVIEWED 1349365 CCL17 chemokine (C-C motif) ligand 17 This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for T lymphocytes, but not monocytes or granulocytes. The product of this gene binds to chemokine receptors CCR4 and CCR8. This chemokine plays important roles in T cell development in thymus as well as in trafficking and activation of mature T cells. [provided by RefSeq, Jul 2008] 16 16 q13 55996180 56007475 + 57438679 57449974 + 1580863;1626251;2306304;4145487;4145603;4145489;4145606;4145614;4145513;4145517;4145486;4145491;4145515;4145612;4145494;4145495;4145500;4145604;4145498;4145488;4145602;6480464;6484113 15491423;15993846;20074456;11160256;18684970;18276722;20071465;15947487;15293604;20237293;18026571;15466387;17898016;17949965;17641031;16387607;18785972;17517104;19715610;11956056 22058214;12832759;12715916;12642832;12615364;12615362;12499558;12485447;12477932;12456591;12441140;12413771;12390321;12193695;12126650;12104083;11468146;10737800;10540332;10493829;9691168;9521068;9430724;9169480;8702936;19258923;19088500;19005490;18824549;18691306;18547160;18435706;18395252;18375080;18271928;18266834;18224687;18191727;18004070;17979978;17967467;17703412;17565019;17548604;17546636;17023689;16859899;16583210;15955100;15944327;15813816;15500644;15489334;15474066;15335355;15113590;15047814;14962085;14767451;14747532;14734737;14677179;13679391;12871855;9070951;15067078;18937546;19236603;19371952;19421847;19639049;20237496;20503287;20625996;20002703;20669282;20800454;20374230;21129807;23224400;21707761;22775568;22322668;22533972;22017510;22981793;23225085 6361 Q92583 ABBA01025270;AC004382;AC009052;AMYH01007700;BC069107;BC112066;BC112068;BE061171;CH471092;D43767;EF064767;NM_002987 AAC24308;AAH69107;AAI12067;AAI12069;ABK41950;BAA07824;EAW82921;NP_002978;Q92583 Hs.546294 1688150;2129175 RH66539;RH80761 A-152E5.3;ABCD-2;MGC138271;MGC138273;SCYA17;TARC C-C motif chemokine 17;CC chemokine TARC;OTTHUMP00000164673;T cell-directed CC chemokine;small inducible cytokine subfamily A (Cys-Cys), member 17;small-inducible cytokine A17;thymus and activation-regulated chemokine APPROVED protein-coding ENSG00000102970 10615 03309 601520 REVIEWED 1321181 CCL19 chemokine (C-C motif) ligand 19 This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene may play a role in normal lymphocyte recirculation and homing. It also plays an important role in trafficking of T cells in thymus, and in T cell and B cell migration to secondary lymphoid organs. It specifically binds to chemokine receptor CCR7. [provided by RefSeq, Jul 2008] 9 9 p13 34679567 34681274 - 34689567 34691274 - 1580863;5130912;5130906;5130909;5130918;5130910;5130911;5130908;6480464 12626344;19933855;17947663;20176793;17717200;16959919;19783686 10861057;9153236;19258923;18838169;18757429;18047937;17881634;17825430;17709502;17703412;17597826;17469160;17182562;17082584;16904643;16887149;16678487;16500130;16249377;16081805;15714581;15674360;15546958;15489334;15019823;14871974;14592837;12477932;12474232;11994492;11981810;11929789;11870628;11869682;10706668;9743376;9498785;9235955;9013939;20592280;21464944;18240029;19540558;19655301;20002784;20237496;20503287;18577758;20865789;12729902;15059845;15778365;20969772;21139048;22288592;22334704;22976543;20015995;20942936;18310327 6363 Q5VZ75;Q6IBD6;Q99731 AB000887;ABBA01065006;AJ223410;AK311945;AL162231;AMYH01019340;AX772806;BC027968;CH471071;CR456868;EF064766;NM_006274;U77180;U88321 AAC23905;AAC50944;AAH27968;ABK41949;ABM86162;ABW03691;BAA20383;BAG34886;CAA11307;CAE06252;CAG33149;EAW58416;NP_006265;Q99731 Hs.50002 1689159;1775232;1776404;2119349 AFM326vd1;RH91355;SHGC-37670;STS-U77180 CKb11;ELC;MGC34433;MIP-3b;MIP3B;SCYA19 C-C motif chemokine 19;CC chemokine ligand 19;CK beta-11;EBI1 ligand chemokine;EBI1-ligand chemokine;MIP-3-beta;OTTHUMP00000021295;OTTHUMP00000021296;beta chemokine exodus-3;beta-chemokine exodus-3;epstein-Barr virus-induced molecule 1 ligand chemokine;exodus-3;macrophage inflammatory protein 3 beta;macrophage inflammatory protein 3-beta;small inducible cytokine subfamily A (Cys-Cys), member 19;small-inducible cytokine A19 APPROVED protein-coding ENSG00000172724 10617 03750 602227 REVIEWED 1345851 CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for naive T cells, CD4+ and CD8+ T cells and nonactivated lymphocytes, but not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic cells and activated macrophages in lymph nodes. It may play a role in both humoral and cell-mediated immunity responses. [provided by RefSeq, Jul 2008] 17 17 q11.2 31415756 31422954 + 34391643 34398841 + 1580863;6480464 9192897;9233607;19258923;19017877;17979978;17909104;17900259;17875202;17703412;17469163;17181634;16984635;16773571;16736095;16670340;16415274;16169070;15702402;15661937;15494534;15489334;14578205;12805086;12716654;12646652;12626578;12477932;12161279;11978786;11745396;10087196;10049593;9570561;9129202;19937162;19913121;20628086;21324976;19036375;19357939;19423540;19808030;19958819;20237496;20406964;20438785;20503287;17207965;20674579;20608885;20568229;22629457;21481794;23029252;23102918;22404649;23331560;21539615;21251883;21778167;21943944;22117697;22203932;22649201;21928244;22848587;22589264;23349697;23029519 6362 P55774 AB000221;AB012113;AB451458;ABBA01011243;AC069363;AF082212;AF082213;AF082214;AF111198;AMYH01008363;BC069700;BC096124;BC096125;BC096126;BC096127;CH471147;CR407660;CS115015;NM_002988;Y13710 AAC32287;AAD30390;AAH69700;AAH96124;AAH96125;AAH96126;AAH96127;ADQ32936;BAA21670;BAA34368;BAG70272;CAA74039;CAG28588;CAJ15096;EAW80102;NP_002979;P55774 Hs.143961 1646248;2110307;2163086;2185993 CCL18_3012;D17S1315;RH16601;SHGC-33674 AMAC-1;AMAC1;CKb7;DC-CK1;DCCK1;MIP-4;PARC;SCYA18 C-C motif chemokine 18;CC chemokine PARC;CC chemokine ligand 18;OTTHUMP00000163954;alternative macrophage activation-associated CC chemokine 1;chemokine (C-C), dendritic;dendritic cell chemokine 1;macrophage inflammatory protein 4;pulmonary and activation-regulated chemokine;small inducible cytokine A18;small inducible cytokine subfamily A (Cys-Cys), member 18, pulmonary and activation-regulated;small-inducible cytokine A18 APPROVED protein-coding 10616 04784 603757 VALIDATED 1347908 CCL20 chemokine (C-C motif) ligand 20 2 2 q36.3 228386814 228390494 + 228678558 228682280 + 1580863;6480464;6907045 19303953;8076819;22553918;10438902;9038201;10521347;9129037;19492413;19350575;19340288;19324905;19305396;19233848;19006683;18980993;18757306;18703490;18684866;18576931;18512817;18086840;18047937;17903302;17664181;17562763;17548638;17295217;17241869;17133360;17075975;16820679;16764701;16531471;16215992;16095490;16034074;15815621;15679580;15671814;15618437;15489334;15474097;15336571;15069060;14714554;12821122;12760962;12684696;12528183;12496186;12477932;12427784;12414801;12356943;12239608;12149255;12067311;12010510;11994436;11994140;11877260;11807793;11532377;11352563;11133838;11083865;11035086;10601351;10064080;9294137;9223454;9169459;9013939;12089333;15972662;22286692;20459729;20420712;21300824;19567485;19913121;20628086;17545018;18240029;19295614;19423540;19479364;19644053;19784662;19797510;19885605;20023216;20054338;20064082;20237496;20406964;20438785;18577758;20511548;20595617;20400327;20439195;20819093;21178014;21178448;20816914;20969772;22388957;22911498;23568457;21911466;21248725;22019504;22099878;21912453;21935436;21961038;22048239;21881590;21949768;22001440;22533972;21724701;22857950;23011799;21988832;23118497;22926920;22860513;22926691;17356539;20942936;21858117;22796894 6364 P78556 ABBA01050170;AC073065;AMYH01011543;BC020698;CH471063;D17012;D86955;HI574034;NM_001130046;NM_004591;U64197;U77035 AAB61534;AAC50943;AAH20698;AAX93214;ABM82899;ABM87840;BAA13191;CBX47506;EAW70877;EAW70878;NP_001123518;NP_004582;P78556 Hs.75498 1797352 CCL20_2649 CKb4;LARC;MIP-3-alpha;MIP-3a;MIP3A;SCYA20;ST38 C-C motif chemokine 20;CC chemokine LARC;MIP-3-alpha;OTTHUMP00000164245;OTTHUMP00000204113;beta chemokine exodus-1;beta-chemokine exodus-1;exodus-1;liver and activation-regulated chemokine;macrophage inflammatory protein 3 alpha;small inducible cytokine subfamily A (Cys-Cys), member 20;small-inducible cytokine A20 protein-coding ENSG00000115009 10619 03571 601960 VALIDATED 731046 CCL2 chemokine (C-C motif) ligand 2 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. [provided by RefSeq, Jul 2013] 17 17 q11.2-q12 29606409 29608335 + 32582296 32584222 + 1581155;1581156;1581157;1581158;1581159;1581160;1581161;1581162;1581163;1580863;1580560;1582323;1358456;2307014;2307015;2306990;2306982;2306983;2306989;2306992;2306993;2306979;2306980;2306995;2307000;2307041;2307145;2301862;2307195;2306981;2306984;2306985;2306986;2306988;2306998;2306999;2307001;2307002;2307003;2307004;2307006;2307009;2307016;2307024;2307033;2307046;2307052;2307053;2298858;2307054;2307055;2307057;2307059;2307143;2307147;2307176;2307029;2307038;2307008;2307141;2306991;2307114;2307010;2307043;4891425;4142853;4891433;4891429;4891451;4891458;4891439;4891443;4891466;4143275;4891453;4145441;4891442;4891450;4891460;4891461;4891459;4891427;4145112;4891428;4891456;4145509;4891409;5135051;5683876;6480464;6484113;6907045;7240710;6218988;6480432 14967845;12950323;16697654;15627719;16799229;16164699;16116069;15742444;15308783;14693680;14684844;15034225;18555988;18482727;17982227;19097668;19092169;18031723;17876613;17803693;19409809;19369290;19401162;19164781;18433541;16844401;18388116;14611812;19118698;18976114;18762729;18702087;18093596;19260320;19210118;19144177;19111613;19087668;19060786;18806609;18690297;18475188;18473828;18459941;18297440;18292571;18167211;18087711;17989143;17964702;17950261;17898087;17052673;16832247;15882261;18459944;18469848;18726678;17304115;17968528;17666800;18642776;18419759;20967263;20404807;20396927;20497022;19617401;20966041;20111728;20042590;19373627;20438838;19615053;12600821;20056091;19629725;19762564;19648283;20855682;20921064;20833968;20618689;19515386;20205697;18703681;21268133;21285114;21894146;21767135 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6347 J3KRT7;P13500 ABBA01011212;AC005549;AF519531;AK311960;AMYH01008350;AV733621;AY357296;BC009716;BG530064;BT007329;CH471147;D26087;M24545;M26683;M28225;M28226;M31626;M37719;NG_012123;NM_002982;S69738;S71513;X14768;X60001;Y18933 AAA18102;AAA18164;AAA36330;AAA60308;AAA60309;AAA96708;AAB20651;AAB29926;AAH09716;AAM54046;AAP35993;AAQ75526;ABM84651;ABW03626;BAA05080;BAG34900;CAA32876;CAC14049;EAW80211;EAW80212;NP_002973;P13500 Hs.303649 1733396;1745473;1795480;5021288 CCL2_498;D17S1269;D17S1988;GDB:607769 GDCF-2;HC11;HSMCR30;MCAF;MCP-1;MCP1;MGC9434;SCYA2;SMC-CF C-C motif chemokine 2;OTTHUMP00000163799;monocyte chemoattractant protein 1;monocyte chemoattractant protein-1;monocyte chemotactic and activating factor;monocyte chemotactic protein 1;monocyte secretory protein JE;small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je);small inducible cytokine subfamily A (Cys-Cys), member 2;small-inducible cytokine A2 APPROVED protein-coding ENSG00000108691 10618 01149 158105;182940;607948;609423 REVIEWED 1323745 CCL21 chemokine (C-C motif) ligand 21 This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. Similar to other chemokines the protein encoded by this gene inhibits hemopoiesis and stimulates chemotaxis. This protein is chemotactic in vitro for thymocytes and activated T cells, but not for B cells, macrophages, or neutrophils. The cytokine encoded by this gene may also play a role in mediating homing of lymphocytes to secondary lymphoid organs. It is a high affinity functional ligand for chemokine receptor 7 that is expressed on T and B lymphocytes and a known receptor for another member of the cytokine family (small inducible cytokine A19). [provided by RefSeq, May 2013] 9 9 p13 34699002 34700147 - 34709002 34710147 - 1580863;2311360;5130918;5130910;6480464 17372021;20176793;17717200 10861057;9235955;10201891;19180477;19110536;19082456;18802075;18794853;18757429;18354239;17982129;17949547;17890452;17881634;17495955;17474076;17469160;17331965;16904643;16887149;16713569;15934082;15863780;15674360;15569314;15546958;15489334;21972019;14978072;14726959;14726633;14709406;14667884;14592837;14517790;12975309;12847218;12707342;12651610;12477932;12393730;12393410;11970971;15073111;11943728;11929789;11083865;10706668;9585422;9507024;9419363;9300671;9257816;15972662;22619482;21464944;20488224;20797713;17460916;18240029;19644859;19674979;19750015;19832038;19847900;20049410;20219786;20233754;20439292;20444755;20461788;20498205;20488940;20453842;18577758;20739459;20889506;11242036;12729902;15059845;15778365;19624896;21586211;21666055;21698152;22438908;22468089;21900206;22221265;22427939;12066416;15342556;15461605;16671092;22976543;22392503 6366 O00585;Q5VZ73;Q6ICR7 AB002409;ABBA01065006;AF001979;AF030572;AJ005654;AK311901;AL162231;AMYH01019340;AY358887;BC027918;BI833188;BP331359;CH471071;CR450326;EF064765;NM_002989;U88320 AAB86594;AAB91454;AAH27918;AAQ13417;AAQ89246;ABK41948;ABM82974;ABM86168;BAA21817;BAG34842;CAA06653;CAG29322;EAW58415;NP_002980;O00585 Hs.57907 1793756;2217116 CCL21_2702;PMC270078P1 6Ckine;CKb9;ECL;MGC34555;SCYA21;SLC;TCA4 C-C motif chemokine 21;Efficient Chemoattractant for Lymphocytes;OTTHUMP00000021303;OTTHUMP00000021304;beta chemokine exodus-2;beta-chemokine exodus-2;exodus-2;secondary lymphoid tissue chemokine;secondary lymphoid-tissue chemokine;small inducible cytokine subfamily A (Cys-Cys), member 21;small-inducible cytokine A21 APPROVED protein-coding ENSG00000137077 10620 04113 602737 REVIEWED 1348813 CCL23 chemokine (C-C motif) ligand 23 This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity on resting T lymphocytes and monocytes, lower activity on neutrophils and no activity on activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. In addition, the product of this gene is a potent agonist of the chemokine (C-C motif) receptor 1. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013] 17 17 q12 31364210 31369118 - 34340097 34345005 - 1580863;6480464 9886417;9104803;19265684;19258923;18668547;18258606;17703412;17513790;17371990;16378600;15927850;15905581;15489334;12477932;11060285;10737895;10660125;10409433;10213461;9558365;9187369;9129202;8661057;20187767;19951712;20056178;20097574;20237496;20503287;21109018;21666788;21646793;20824279;21497884;21656154;22147696;22633458;9834116 6368 K7EMG9;P55773 ABBA01011243;AC069363;AF088219;AMYH01008361;BC093970;BC143310;BQ026575;CH471147;NG_029876;NM_005064;NM_145898;U58913;U67128;U85767 AAB51134;AAC63326;AAC63327;AAD00161;AAD10846;AAH93970;AAI43311;EAW80103;EAW80104;NP_005055;NP_665905;P55773 Hs.169191 2156585;5113928 D17S2152;RH93904 CK-BETA-8;CKb8;Ckb-8;Ckb-8-1;MIP-3;MIP3;MPIF-1;SCYA23;hmrp-2a C-C motif chemokine 23;C6 beta-chemokine;OTTHUMP00000163948;hmrp-2a;macrophage inflammatory protein 3;myeloid progenitor inhibitory factor 1;small inducible cytokine subfamily A (Cys-Cys), member 23;small-inducible cytokine A23 APPROVED protein-coding ENSG00000167236 10622 03930 602494 REVIEWED 1351526 CCL22 chemokine (C-C motif) ligand 22 This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, dendritic cells, natural killer cells and for chronically activated T lymphocytes. It also displays a mild activity for primary activated T lymphocytes and has no chemoattractant activity for neutrophils, eosinophils and resting T lymphocytes. The product of this gene binds to chemokine receptor CCR4. This chemokine may play a role in the trafficking of activated T lymphocytes to inflammatory sites and other aspects of activated T lymphocyte physiology. [provided by RefSeq, Jul 2008] 16 16 q13 55950219 55957602 + 57392695 57400102 + 1580863;2306307;2306304;2306306;4145489;4891473;4891471;4145441;4891474;4145517;4891472;4145515;4891475;4145498;4145488;6480464 11438578;15993846;12651599;18684970;20337996;20628341;12600821;18316417;15293604;16453150;15466387;10384142;17517104;19715610 10861057;9151897;9381181;9743322;19298002;19258923;19244125;18547160;18515987;18435706;18287226;18271928;18266834;18224687;18208895;18178833;18047937;17979978;17967467;17703412;17008059;16614259;16583210;15944327;15813816;15714581;15489334;15210758;15187160;15113590;14962085;14747532;14718574;12851650;12715916;12642832;12485447;12477932;12407016;12193695;11981828;11818437;11792124;11390394;11352815;11241286;10493829;9933589;9691168;9430724;9312138;16343773;9826729;20002703;15067078;19175890;19371952;19756997;19942450;20237496;20503287;20625996;20348247;20525891;16344560;21129807;23265706;21327296;21823987;22125604;22322668;21988832;23106659;22975373;23180648 6367 O00626 ABBA01025270;AC004382;AC009052;AK311970;AMYH01007699;BC027952;CH471092;DA815965;DB154173;EF064764;NM_002990;U83171;U83239 AAB53372;AAB58360;AAC24306;AAH27952;ABK41947;ABM81848;ABM84237;ABM84998;ABM87624;ABW03327;BAG34909;EAW82918;NP_002981;O00626 Hs.534347 2217118;5015861;5020988;5024272;7185938 CCL22_3302;D10S16;D22S958;D2S1254 A-152E5.1;ABCD-1;DC/B-CK;MDC;MGC34554;SCYA22;STCP-1 C-C motif chemokine 22;CC chemokine STCP-1;MDC(1-69);OTTHUMP00000164658;macrophage-derived chemokine;small inducible cytokine A22;small inducible cytokine subfamily A (Cys-Cys), member 22;small-inducible cytokine A22;stimulated T cell chemotactic protein 1;stimulated T-cell chemotactic protein 1 APPROVED protein-coding ENSG00000102962 10621 04263 602957 REVIEWED 1313608 CCL25 chemokine (C-C motif) ligand 25 This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] 19 19 p13.2 8023934 8033547 + 8117646 8127547 + 1580863;5130926;5130924;6480464 18592157;18056919 10640743;9285413;10544196;19258923;19003934;18245522;17703412;17510295;16517733;12671049;11825560;11805153;11238115;10974041;10706668;10498628;10229797;11046037;9722960;2834384;12477932;18240029;20081876;20738854;21344163;21637913;22102554;22863617 6370 C9JDZ7;O15444 AB046579;ABBA01010866;AC008946;AI313430;AI961745;AK292662;AMYH01009422;BC125136;BC130561;BC144463;CH471139;NM_001201359;NM_005624;U86358 AAB69981;AAI25137;AAI30562;AAI44464;ADR82824;BAB62257;BAF85351;EAW68951;EAW68952;NP_001188288;NP_005615;O15444 Hs.310511 Ckb15;MGC150327;SCYA25;TECK C-C motif chemokine 25;Ck beta-15;OTTHUMP00000180596;OTTHUMP00000180597;TECKvar;chemokine TECK;small inducible cytokine subfamily A (Cys-Cys), member 25;small-inducible cytokine A25;thymus expressed chemokine;thymus-expressed chemokine APPROVED protein-coding ENSG00000131142 10624 03976 602565 REVIEWED 1321033 CCL24 chemokine (C-C motif) ligand 24 This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity on resting T lymphocytes, a minimal activity on neutrophils, and is negative on monocytes and activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. [provided by RefSeq, Jul 2008] 7 7 q11.23 75279050 75280969 - 75441114 75443033 - 1580863;4145448;4891485;4891483;4891484;4891495;4891487;4145109;4891496;5130930;5130932;4891493;6480464 10415058;17060636;18712274;17548626;15207712;19296494;17982926;12952266;16304252;12761043;15580493 9104803;19264973;19258923;19247692;18055844;17917245;17908961;17703412;17630924;16391516;15744457;15489334;15340161;10713092;14718574;12853948;12477932;12218106;12193745;12192108;12034562;11467997;11286614;11141953;10913244;9598329;9365122;19423540;19525930;19828696;20056178;20143648;20236835;20237496;20406964;20438785;20503287;17207965;20659406;21077277;17438849;19522186;23025269;10072545;22946025;22846146 6369 O00175 ABBA01005890;AC005102;AJ223461;AK312216;AMYH01017555;BC069072;BC069391;CH471220;NM_002991;U85768 AAB51135;AAD15410;AAH69072;AAH69391;ADQ32923;BAG35149;CAA11383;EAW71772;NP_002982;O00175 Hs.247838 Ckb-6;MPIF-2;MPIF2;SCYA24 C-C motif chemokine 24;CK-beta-6;OTTHUMP00000210224;OTTHUMP00000210225;eosinophil chemotactic protein 2;eotaxin-2;myeloid progenitor inhibitory factor 2;small inducible cytokine subfamily A (Cys-Cys), member 24;small-inducible cytokine A24 APPROVED protein-coding 10623 03931 602495 REVIEWED 1604917 CCL3P1 chemokine (C-C motif) ligand 3 pseudogene 1 17 17 q12 31634324 31635567 - 34610311 34611373 - 15028295;12355456;1296815 390788 AC131056;D12592;NG_029353 1745469 GDB:607763 CCL3L2;G0S19-3;LD78gamma;SCYA3L2 APPROVED pseudo 10629 609467 INFERRED 1344177 CCL26 chemokine (C-C motif) ligand 26 This gene is one of two Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 7. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for normal peripheral blood eosinophils and basophils. The product of this gene is one of three related chemokines that specifically activate chemokine receptor CCR3. This chemokine may contribute to the eosinophil accumulation in atopic diseases. [provided by RefSeq, Jul 2008] 7 7 q11.23 75236778 75257000 - 75398842 75419064 - 1580863;4891493;4891487;5130930;4891495;4891483;5130928;5130929;6480464;6484113 15580493;19296494;16304252;15207712;18712274;15947325;21303604 10373330;19379605;19331716;19258923;18844613;18774776;18055844;17900656;17703412;17541284;17490641;17073866;16604488;16453027;16391516;16264039;16084752;15863444;15784470;15521376;15489334;15039444;12975309;12853948;12689946;12477932;12192108;12061839;11748272;11544308;11425309;11329013;10488147;10415065;9847074;20505746;19141347;19141349;19423540;19525930;19567623;20056178;20059579;20143648;20236835;20406964;20438785;20503287;20974991;21077277;21325281;19203252;22226123;21832049;21266446;21493274;21985360;21881593;23185525;22580413;22846146;22952702;22739041;22946025 10344 Q9Y258 AA926779;AB010447;AB016542;ABBA01005884;ABBA01005885;ABBA01005886;AC005102;AF096296;AF124601;AF142434;AMYH01017555;AY358893;BC069394;BC093773;BC101665;BG211121;CH471220;EF064763;NG_015989;NM_006072 AAD15411;AAD22197;AAD46495;AAF09265;AAH69394;AAH93773;AAI01666;AAQ89252;ABK41946;BAA36704;BAA84579;EAW71771;NP_006063;Q9Y258 Hs.131342 1342049;7187955 D7S1500 IMAC;MGC126714;MIP-4a;MIP-4alpha;SCYA26;TSC-1 C-C motif chemokine 26;CC chemokine IMAC;MIP-4-alpha;OTTHUMP00000160954;OTTHUMP00000210227;chemokine N1;eotaxin-3;macrophage inflammatory protein 4-alpha;small inducible cytokine A26;small inducible cytokine subfamily A (Cys-Cys), member 26;small-inducible cytokine A26;thymic stroma chemokine-1 APPROVED protein-coding ENSG00000006606 10625 05262 604697 REVIEWED 1312228 CCL27 chemokine (C-C motif) ligand 27 This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene is chemotactic for skin-associated memory T lymphocytes. This cytokine may also play a role in mediating homing of lymphocytes to cutaneous sites. It specifically binds to chemokine receptor 10 (CCR10). Studies of a similar murine protein indicate that these protein-receptor interactions have a pivotal role in T cell-mediated skin inflammation. [provided by RefSeq, Jul 2008] 9 9 p13 34651893 34652689 - 34661893 34662689 - 1580863;1626250;1626251;5130899;6480464 12642842;15491423;19541356 10588729;19258923;19074885;18772332;18453562;18266834;18025475;17703412;17581202;16675558;14767451;12133963;11821900;11821893;10725697;10725696;10559234;10556532;8889548;16433680;15679580;15598438;15466853;15335355;22526457;19913121;20628086;12477932;18240029;19639049;20503287;18577758;21707761;21993219;22017510 10850 Q5VZ77;Q9Y4X3 AB010445;ABBA01065007;AF082393;AJ243542;AL162231;AMYH01019340;BC148263;BM719357;CH471071;CQ813007;CS642700;EF064762;NG_028966;NM_006664 AAD41238;AAI48264;AAI66648;ABK41945;BAA87046;CAB46983;CAG29883;CAO79486;EAW58418;EAW58420;EAW58421;NP_006655;Q9Y4X3 Hs.648124 1763431;2151283;2155805;5492859 SHGC-147142;SHGC-35540;STS-U32324;UniSTS:483055 ALP;CTACK;CTAK;ESKINE;ILC;PESKY;SCYA27 C-C motif chemokine 27;CC chemokine ILC;IL-11 R-alpha-locus chemokine;IL-11 Ralpha-locus chemokine;OTTHUMP00000021297;cutaneous T-cell attracting chemokine;cutaneous T-cell-attracting chemokine;skinkine;small inducible cytokine subfamily A (Cys-Cys), member 27;small-inducible cytokine A27 APPROVED protein-coding ENSG00000213927 10626 05321 604833 REVIEWED 1605181 CCL3L3 chemokine (C-C motif) ligand 3-like 3 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. This protein binds to several chemokine receptors including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals; most individuals have 1-6 copies in the diploid genome, although rare individuals have zero or more than six copies. The human genome reference assembly contains two full copies of the gene (CCL3L3 and CCL3L1) and a partial pseudogene. This record represents the more centromeric full-length gene. [provided by RefSeq, Apr 2010] 17 17 q21.1 31546375 31548255 - 34522268 34524147 - 6480464;6907045 15067078;1694014;2271120;15728180;15028295;12477932;12355456;11734558;10364178;8889548;8661057;7566098;1972563;1296815 414062 A8MVB7;P16619 AA380745;AC131056;AC233699;AI302038;AMYH01008363;BC007783;BC063472;BC146919;BC147008;BC147013;BT006783;CF128666;NG_023325;NM_001001437 AAH07783;AAI46920;AAI47009;AAI47014;AAP35429;NP_001001437;P16619 Hs.454713 5111072;5125530 RH68318;SGC35233 464.2;CCL3L1;D17S1718;LD78;LD78BETA;MGC12815;SCYA3L;SCYA3L1 C-C motif chemokine 3-like 1;G0/G1 switch regulatory protein 19-2;G0S19-2;LD78-beta(1-70);PAT 464.2;chemokine (C-C motif) ligand 3-like, centromeric;small inducible cytokine A3-like 1;small-inducible cytokine A3-like 1;tonsillar lymphocyte LD78 beta protein APPROVED protein-coding ENSG00000256515 30554 14426 609468 REVIEWED 1345914 CCL3L1 chemokine (C-C motif) ligand 3-like 1 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. This protein binds to several chemokine receptors including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals; most individuals have 1-6 copies in the diploid genome, although rare individuals have zero or more than six copies. The human genome reference assembly contains two full copies of the gene (CCL3L3 and CCL3L1) and a partial pseudogene. This record represents the more telomeric full-length gene. [provided by RefSeq, Apr 2010] 17 17 q21.1 31647955 31649843 - 34623842 34625730 - 1580863;6480464;6907045;7240710 19279442;19100722;19055602;18989363;18781860;18776933;18498240;18360285;17971457;17952079;17874089;17604289;17330138;17062725;15962231;15728180;15637236;15489334;15340161;15028295;12477932;12355456;11734558;11449371;11390394;10961862;10471782;10364178;8661057;7566098;2271120;1972563;1694014;1296815;20628649;19741716;19812560;19812561;19812562;19812563;19886839;19898927;20044164;20095832;20442634;21919959;20442635;20659124;21084992;21209899;21592988;22837109;21816135;22450355;22476153;22484760;22484763;22785612 6349 A8MVB7;K7EKW0;P16619 AA362164;ABBA01148689;AC131056;AMYH01008361;AV739733;BC027888;BC107710;BC146914;D90145;M24110;NG_023369;NM_021006;X52149 AAA35859;AAH27888;AAI07711;AAI46915;BAA14173;CAA36397;NP_066286;P16619 Hs.512683 2217120;5111072;5125530 CCL3_2642;RH68318;SGC35233 464.2;CCL3L3;D17S1718;G0S19-2;LD78;LD78BETA;MGC104178;MGC12815;MGC182017;MIP1AP;SCYA3L;SCYA3L1 C-C motif chemokine 3-like 1;G0/G1 switch regulatory protein 19-2;LD78-beta(1-70);OTTHUMP00000163947;PAT 464.2;small inducible cytokine A3-like 1;small-inducible cytokine A3-like 1;tonsillar lymphocyte LD78 beta protein APPROVED protein-coding ENSG00000205021 10628 03234 601395;609423 REVIEWED 1347484 CCL6 chemokine (C-C motif) ligand 6 6353 AK002697 10633 1349737 CCL28 chemokine (C-C motif) ligand 28 This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for resting CD4 or CD8 T cells and eosinophils. The product of this gene binds to chemokine receptors CCR3 and CCR10. This chemokine may play a role in the physiology of extracutaneous epithelial tissues, including diverse mucosal organs. [provided by RefSeq, Jul 2008] 5 5 p12 43417357 43448245 - 43381600 43412488 - 1580863;4892193;4892194;4892195;4892132;4892197;2298761;4892196;4890012;4892224;6480464 20161852;17954569;16290206;19829664;15681819;16840655;19847203;19050296;19393265 10781587;19258923;19003934;18426876;17912348;17703412;16785557;16581045;16433680;15489334;12671049;12538707;12477932;11825560;11295038;10975800;19913121;20628086;18240029;19659860;20237496;20503287;17207965;2834384;18577758;21753853;21447959;23509159 56477 A0N0Q3;D6RC73;D7RIE7;Q9NRJ3 ABBA01024257;AC025457;AF110384;AF220210;AF266504;AK307307;AK312120;AMYH01015057;BC062668;BC069532;CH471119;CQ813003;CS642694;EF064761;HM067700;NM_148672 AAF87205;AAG16691;AAG43193;AAH62668;AAH69532;ABK41944;ADH95184;ADQ32935;BAG35056;CAG29882;CAO79483;EAW56057;EAW56058;EAW56059;EAW56060;NP_683513;Q9NRJ3 Hs.656904 CCK1;MEC;MGC71902;SCYA28 C-C motif chemokine 28;CC chemokine CCL28;OTTHUMP00000120046;OTTHUMP00000221629;chemokine (C-C motif) ligand 28 splice variant chi;mucosae-associated epithelial chemokine;small inducible cytokine A28;small inducible cytokine subfamily A (Cys-Cys), member 28;small-inducible cytokine A28 APPROVED protein-coding 17700 05577 605240 REVIEWED 735784 CCL3 chemokine (C-C motif) ligand 3 This locus represents a small inducible cytokine. The encoded protein, also known as macrophage inflammatory protein 1 alpha, plays a role in inflammatory responses through binding to the receptors CCR1, CCR4 and CCR5. Polymorphisms at this locus may be associated with both resistance and susceptibility to infection by human immunodeficiency virus type 1.[provided by RefSeq, Sep 2010] 17 17 q12 31439715 31441619 - 34415602 34417506 - 1580863;2307114;2307143;2307145;6480464;5683876;5135051;6484113;6907045;7240710;7175323;7175169;7241797;6906908;7241804;7241810;7241813;7241814;2307059;7241818;7241819;7241820;7241825;7241836 17666800;17052673;16844401;21285114;21268133;21370451;22613545;20688906;20482449;18941245;18941229;18846416;18187931;17898087;17684420;17298994;17220320;15155903;10353879 15001559;10660125;10857861;10734056;10679098;10072545;10841574;10706735;19527514;19494336;19463769;19074730;19055602;19019335;18818748;18802359;18762952;18689282;18678243;18619972;18559339;18346864;18242850;18196935;18164590;18076643;18070228;17914560;17656823;17625600;17572013;17357337;17330138;17270460;17005260;16849642;16712957;16507178;16439481;16427155;16379602;16234357;15728180;15602730;15588341;15585099;15489334;15077296;14733721;14680814;12771199;12651617;12651610;12603824;12560229;12543931;12506012;12477932;12447751;12445801;12413001;12401480;12393716;12393595;12377943;12370381;12218153;12200385;12186702;12070155;11861262;11751963;11700073;11461120;11278300;11086082;10985253;10964543;10843431;10751368;10602409;10490959;10477718;10347159;10202040;10201982;10198043;9973507;9885903;9520456;9405404;9366434;9207199;9175116;9092555;8687429;8613703;8573157;8568261;8541527;8525373;8460127;7695626;7594543;7545673;7537510;3279154;3086300;3058856;2521882;2271120;1972563;1694014;1296815;1004873;16393999;10644351;9653130;10446313;10089882;11023526;16160188;15481145;12089333;11602715;16697675;10820198;9658081;9576751;9420238;9359702;8906795;8898753;15638726;12370346;16354571;15817944;15780175;15142381;12960275;12574335;10470075;8077676;15531890;20725607;12408680;15067078;19587705;19841187;19917679;20041127;20042585;20056178;20124101;20518837;20420712;20702408;20959807;21030011;20650649;21115978;21368236;21082024;23151487;22727097;21403648;21784977;12032188;15764707;19523456;9407497;22307528;22691208;21890375;22042700;21756796;22118025;22156348;23334651;22146622;22085486;22295852;23233369;23711864;23223135;23029252;17765942;18945465;18991615;19234184;19436054;20015995;20368576;20380698;20403075;20817073;21118814;22187158;22407921;23152559;8699119 6348 A0N0R1;P10147 ABBA01011243;AC069363;AF043339;AMYH01008363;BC071834;BC171831;BC171891;BX103455;CH471147;D00044;D63785;D90144;EF064769;M23178;M23452;M25315;NG_027730;NM_002983;S82234;X03754;X04018 AAA35858;AAA36316;AAA57255;AAB47170;AAC03539;AAH71834;AAI71831;AAI71891;ABK41952;BAA00029;BAA09855;BAA14172;CAA27388;CAA27643;EAW80100;NP_002974;P10147 Hs.514107 1733394;1792700;1792702;2217120;5111072 CCL3_2642;D17S1268;PMC156734P1;PMC156734P2;RH68318 G0S19-1;LD78ALPHA;MIP-1-alpha;MIP1A;SCYA3 C-C motif chemokine 3;G0/G1 switch regulatory protein 19-1;LD78 alpha beta;OTTHUMP00000163953;PAT 464.1;SIS-beta;macrophage inflammatory protein 1-alpha;small inducible cytokine A3 (homologous to mouse Mip-1a);small-inducible cytokine A3;tonsillar lymphocyte LD78 alpha protein APPROVED protein-coding ENSG00000006075 10627 01656 182283;609423 REVIEWED 1345553 CCL9 chemokine (C-C motif) ligand 9 337988 AF128195 19149 1604447 CCL4L2 chemokine (C-C motif) ligand 4-like 2 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. This protein is similar to CCL4 which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals; most individuals have 1-5 copies in the diploid genome, although rare individuals do not contain this gene at all. The human genome reference assembly contains two copies of this gene. This record represents the more telomeric gene. [provided by RefSeq, Jul 2008] 17 17 q12 31664147 31665674 + 34640034 34641841 + 6484113;6480464 18464913;16625196;15843566;15489334;15028295;14673550;12477932;12401480;12355456;12070155;10540332;9521068;8661057;8525373;8134838;2809212;2568930;2521882;2521353;2462251;2247088;1972563;1894635;21614014 388372 F8W8W8;P13236;Q50EM6 ABBA01011247;AC131056;AMYH01008361;AY766447;AY766449;AY766450;AY766451;AY766452;AY766453;AY766454;AY766455;AY766456;AY766457;AY766458;AY766460;AY766461;BC070310;BC092445;BC130456;BC130458;BC144393;BC144394;BC146944;BC146958;BC171857;BC171864;M69203;NM_207007 AAB00790;AAH70310;AAH92445;AAI30457;AAI30459;AAI44394;AAI44395;AAI46945;AAI46959;AAI71857;AAI71864;AAX07295;AAX07296;AAX07297;AAX07298;AAX07299;AAX07300;AAX07301;AAX07302;AAX07303;AAX07304;AAX07306;AAX07308;AAX07309;AAX07310;AAX07311;AAX07312;AAX07313;AAX07314;AAX07315;AAX07316;AAX07317;ADR83445;NP_996890 Hs.449862;Hs.515183 5019391;5021014;5091647 PMC152049P1;RH17517;STS-M69203 AT744.2;CCL4L;SCYA4L CC chemokine ligand 4L1;CC chemokine ligand 4L1d2;CC chemokine ligand 4L2;OTTHUMP00000164078;chemokine (C-C motif) ligand 4-like 1, telomeric;chemokine (C-C motif) ligand 4-like 2;lymphocyte activation gene 1;macrophage inflammatory protein-1b2;small inducible cytokine 4-like;small inducible cytokine A4-like APPROVED protein-coding 24066 16689 610757 REVIEWED 1353278 CCL4 chemokine (C-C motif) ligand 4 The protein encoded by this gene is a mitogen-inducible monokine and is one of the major HIV-suppressive factors produced by CD8+ T-cells. The encoded protein is secreted and has chemokinetic and inflammatory functions. [provided by RefSeq, Dec 2012] 17 17 q12 31455333 31457127 + 34431220 34433014 + 1580863;5130902;68880;5130904;5130907;5130914;5130915;5130905;4143497;4892091;5130900;5130901;5130903;5683913;5683919;5683893;5683906;5683873;5683892;5683876;5683877;5683895;5683894;5683896;5683905;5683911;5683897;5683874;5683898;5683918;2307059;5683875;6480464;6484113;6907045;6480432 19386685;10679105;20957032;20575639;19786211;18774390;20483921;19046553;16988274;17868461;11475557;18230951;21169727;16238536;17258864;21862610;21914058;17393419;21285114;21273392;16924394;16936328;16773571;21991751;21208283;16250882;21906407;15972509;21113841;17898087;21731074;21767135 10929056;9973507;9759849;2521882;9743377;9558100;10841574;19358850;19258923;19103522;19074730;19057841;19047106;18802359;18623207;18368065;18346864;18203956;18076643;17703412;17644519;17330138;17005260;16963564;16625196;16379602;15897346;15843566;15831560;15645140;15588341;15585099;15529362;15489334;14761932;14746807;14718574;14673550;14582706;12679478;12651610;12603824;12477932;12445801;12427015;12411442;12401480;12393716;12393595;12377943;12218153;12200385;12070155;12036855;11751963;11685466;11470920;11278300;11129109;10985253;10900358;10751368;10608777;10540332;10395844;10049593;9521068;9520456;9405404;8663314;8661057;8525373;8134838;8077676;7622448;7594543;7566098;2809212;2568930;2521353;2462251;2247088;1972563;1894635;9256481;16393999;16841089;10938094;10089882;11023526;16160188;15481145;12089333;11602715;16697675;15638726;12574335;10470075;11485305;11313374;10820198;10644351;9658081;9576751;9420238;9359702;8906796;8906795;8898753;16354571;15817944;15780175;15142381;12370346;21464938;15067078;19328808;19565503;19620252;19841187;19846870;19917679;20056178;20200978;20503287;20482449;20952681;20702408;20959807;21030011;21082024;23509148;22085486;21890375;10679098;21978000;22156348;7545673;8699119;17431094;17765942;19234184;20380698;20403075;20504918;20598119;20817073;20855878;21264298;22407921;23152559 6351 P13236;Q7M4M2 AA362169;ABBA01011244;AC069363;AMYH01008363;AY312578;AY766446;AY766448;AY766459;BC027961;BC104226;BC104227;BC107433;CH471147;CR542119;J04130;M23502;M25316;M57503;NG_033066;NM_002984;X16166;X53683 AAA36656;AAA36752;AAA51576;AAA57256;AAI04227;AAI04228;AAI07434;AAR16183;AAX07292;AAX07293;AAX07305;AAX07307;CAA34291;CAA37723;CAG46916;EAW80098;NP_002975;P13236 Hs.75703 1791366;2117721;2144303;2156901;5019391;5021014;5091647;5493613 G28333;PMC108024P1;PMC152049P1;RH11493;RH17517;STS-M69203;STS-X53683;UniSTS:489733 ACT2;AT744.1;G-26;HC21;LAG-1;LAG1;MGC104418;MGC126025;MGC126026;MIP-1-beta;MIP1B;MIP1B1;SCYA2;SCYA4 C-C motif chemokine 4;CC chemokine ligand 4;G-26 T-lymphocyte-secreted protein;HC21;LAG-1;MIP-1-beta(1-69);OTTHUMP00000163963;PAT 744;SIS-gamma;T-cell activation protein 2;lymphocyte activation gene 1 protein;lymphocyte-activation gene 1;macrophage inflammatory protein 1-beta;secreted protein G-26;small inducible cytokine A4 (homologous to mouse Mip-1b);small-inducible cytokine A4 protein-coding 10630 01657 182284 REVIEWED 1354210 CCL4L1 chemokine (C-C motif) ligand 4-like 1 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. This protein is similar to CCL4 which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals; most individuals have 1-5 copies in the diploid genome, although rare individuals do not contain this gene at all. The human genome reference assembly contains two copies of this gene. This record represents the more centromeric gene. [provided by RefSeq, Jul 2008] 17 17 q12 31562581 31564388 + 34538468 34540275 + 6480464;6484113 19279442;19148142;18464913;18368065;17330138;16625196;15843566;15489334;15028295;14673550;12477932;12401480;12355456;12070155;11685466;10540332;9521068;8661057;8525373;8134838;2809212;2568930;2521882;2521353;2462251;2247088;1972563;1894635;19898927;20659124;21614014 9560 F8W8U7;F8WAL9;P13236;Q50EM6 AC131056;AC233699;AMYH01008363;AX400017;AY079147;AY766447;AY766449;AY766450;AY766451;AY766452;AY766453;AY766454;AY766455;AY766456;AY766457;AY766458;AY766460;BC070310;BC092445;BC130456;BC130458;BC144393;BC144394;BC146944;BC146958;BC171857;BC171864;CD366524;CD521054;NM_001001435;X53682 AAH70310;AAH92445;AAI30457;AAI30459;AAI44394;AAI44395;AAI46446;AAI46945;AAI46959;AAI48785;AAI71857;AAI71864;AAL87008;AAX07294;AAX07306;AAX07308;AAX07309;AAX07310;AAX07311;AAX07312;AAX07313;AAX07314;AAX07315;AAX07316;AAX07317;CAA37722;CAD33461;NP_001001435;Q8NHW4 Hs.449862;Hs.515183 5019391;5021014;5091647 PMC152049P1;RH17517;STS-M69203 AT744.2;CCL4L;CCL4L2;LAG-1;LAG1;SCYA4L C-C motif chemokine 4-like;MIP-1-beta;chemokine (c-c motif) ligand 4-like;lymphocyte activation gene 1 protein;macrophage inflammatory protein 1-beta;macrophage inflammatory protein-1b2;monocyte adherence-induced protein 5-alpha;small inducible cytokine 4-like;small inducible cytokine A4-like, chemokine (C-C motif) ligand 4-like;small-inducible cytokine A4-like APPROVED protein-coding ENSG00000205020 10631 16030 603782 REVIEWED 1348981 CCM3 cerebral cavernous malformation 3 7240710 9811928 9226 1575 603285 1352377 CCL7 chemokine (C-C motif) ligand 7 This gene encodes monocyte chemotactic protein 3, a secreted chemokine which attracts macrophages during inflammation and metastasis. It is a member of the C-C subfamily of chemokines which are characterized by having two adjacent cysteine residues. The protein is an in vivo substrate of matrix metalloproteinase 2, an enzyme which degrades components of the extracellular matrix. This gene is part of a cluster of C-C chemokine family members on chromosome 17q. [provided by RefSeq, Jul 2008] 17 17 q11.2-q12 29621353 29623369 + 32597240 32599256 + 1580863;5130979;5130980;5130981;5130985;5129686;5130983;4145109;5130982;5130984;5130978;6480464;6483763;5135067;4891421;6483776;6483785;6483834;6483764;4891422;6483784;6483818;6483824;6483772;6483781;6483765;6483766;6483814;6483771 19965981;18490489;16888287;15191918;20045013;21388664;17982926;19828696;18579545;20027288;22215510;19131226;20151806;9800627;18492752;21830856;10433925;12127674;11090473;20646081;16270028;21327296;17719030;9655469;21986287 10770925;7916328;9780207;10201901;19424580;19258923;18660381;18469140;17703412;17364026;17023422;16002730;12098517;11781181;11146155;10947989;10734104;10570327;10525044;10477718;10205198;9789057;9405404;9364936;9346360;9109648;8898111;8642344;8580362;8530354;8461011;8318676;7545673;1613466;16169070;15715950;15489334;15381085;15340161;15194816;14733956;14571188;13679391;12847692;12539042;12477932;12149192;20570966;20628624;15067078;19403065;19423540;19865101;19898927;19937793;20056178;20237496;20406964;20438785;20503287;21072187;21102463;21148795;18533557;19253530;21279498;22614322;10072545;10660125;21536288;22468089;22412388;19322201;19526283 6354 A8MVH1;A8MX17;P80098;Q7Z7Q8 ABBA01011212;AC005549;AF043338;AMYH01008350;BC070240;BC092436;BC112258;BC112260;CD523198;CH471147;NM_006273;X71087;X72309 AAC03538;AAH92436;AAI12259;AAI12261;ADR83446;CAA50405;CAA50406;CAA50407;CAB59723;EAW80210;NP_006264;P80098 Hs.251526 1745475;1791574;2130523;2217122;5492389 CCL7_3334;D17S2013;GDB:607772;PMC115222P3;UniSTS:480900 FIC;MARC;MCP-3;MCP3;MGC138463;MGC138465;NC28;SCYA6;SCYA7 C-C motif chemokine 7;OTTHUMP00000163801;monocyte chemoattractant protein 3;monocyte chemotactic protein 3;small inducible cytokine A7 (monocyte chemotactic protein 3);small-inducible cytokine A7 APPROVED protein-coding ENSG00000108688 10634 01150 158106 REVIEWED 1349694 CCL8 chemokine (C-C motif) ligand 8 This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils. By recruiting leukocytes to sites of inflammation this cytokine may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection. [provided by RefSeq, Jul 2013] 17 17 q11.2 29670179 29672534 + 32646066 32648421 + 1580863;4892067;4892091;5131089;5131087;6480464 19571824;16988274;20625511;20970515 12149192;11087354;11083865;10734104;10477718;9730840;9558113;9405404;9115216;9070881;9005985;8898111;9468473;9119400;10734056;19415413;19258923;19224633;19019335;18835932;18818748;18684849;18660381;18636124;18602166;18256320;17703412;17487826;15644410;15607028;15489334;14647058;13679391;12539042;12477932;8661057;8189067;2518726;1613466;20181935;19423540;19527514;19865101;20056178;20406964;20438785;20503287;21220697;21514686;21945122;22412388 6355 P80075 ABBA01011214;AC011193;AMYH01008350;BC126242;CH471147;NM_005623;X99886;Y10802;Y16645;Y18047 AAI26243;ADR83451;CAA68168;CAA71760;CAA76341;EAW80207;EAW80208;NP_005614;P80075 Hs.271387 5492609;5492771 UniSTS:481767;UniSTS:482420 HC14;MCP-2;MCP2;SCYA10;SCYA8 C-C motif chemokine 8;OTTHUMP00000163792;monocyte chemoattractant protein 2;monocyte chemotactic protein 2;small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2);small-inducible cytokine A8 APPROVED protein-coding ENSG00000108700 10635 03791 602283 REVIEWED 1317623 CCM2 cerebral cavernous malformation 2 This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009] 7 7 p13 45006312 45082594 + 45039345 45116069 + 1600689;1580863;2293891;6480464;6484113;7240710;7240533 17160895;17481747;20626350 16037064;14740320;19318350;19199464;19151728;19088124;19088123;18300272;17657516;17440989;17290187;16769843;16373645;16239636;15498874;15489334;14702039;14624391;12774951;12690205;12477932;9811928;19151727;19913121;20628086;16344560;18469344;19475721;19688696;19755102;20308363;20379614;20419355;21029238;21569831;23000020;21543988;20301470;22378217;21044950;22684070;22415356;22782892;23266514 83605 C9JUH3;E9PEC4;H7C516;Q8TAT4 AACC02000110;ABBA01058244;ABBA01058245;ABBA01058246;ABBA01058247;AC004847;AC013416;AF370392;AI538498;AK025807;AK098005;AK124060;AK298671;AK303534;AL832992;AMYH01017220;AMYH01017221;BC004903;BC008859;BC016832;BC025958;BC063663;BX641167;CH236960;CH471128;DA420491;NG_016295;NM_001029835;NM_001167934;NM_001167935;NM_031443;NR_030770 AAH04903;AAH08859;AAH16832;AAH25958;AAH63663;AAQ15228;ADZ15377;BAG53562;BAH12842;BAH13982;CAH56307;EAL23746;EAW61058;EAW61059;EAW61060;EAW61061;EAW61062;EAW61063;EAW61064;EAW61065;EAW61066;NP_001025006;NP_001161406;NP_001161407;NP_113631;Q9BSQ5 Hs.148272 1662625;1671289;1672271;1680886;1763757;2119062;2121720;2132989;2154676;2176611;5022200 GDB:1317296;GDB:4585131;L18426;RH12217;RH36401;RH36463;RH79068;RH79690;SHGC-147434;STS-T90101;WIAF-2107 C7orf22;MGC4067;MGC4607;MGC74868;OSM;PP10187 OTTHUMP00000159554;OTTHUMP00000214270;OTTHUMP00000214271;OTTHUMP00000214273;cerebral cavernous malformations 2 protein;malcavernin APPROVED protein-coding ENSG00000136280 21708 09719 603284;607929 REVIEWED 3398802 CCNB1IP1P1 cyclin B1 interacting protein 1 pseudogene 1 1 1 1 p34.1 43706806 43708023 + 45196515 45197654 + 45423760 45425248 + 728887 ABBA01050900;AL136380;AMYH01000569;NG_015864;NG_016546 pseudo 37693 INFERRED 1604061 CCL5 chemokine (C-C motif) ligand 5 This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, functions as a chemoattractant for blood monocytes, memory T helper cells and eosinophils. It causes the release of histamine from basophils and activates eosinophils. This cytokine is one of the major HIV-suppressive factors produced by CD8+ cells. It functions as one of the natural ligands for the chemokine receptor chemokine (C-C motif) receptor 5 (CCR5), and it suppresses in vitro replication of the R5 strains of HIV-1, which use CCR5 as a coreceptor. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013] 17 17 q12 31222608 31231490 - 34198495 34207377 - 1626251;2303121;2307105;2307059;2307184;2307142;2307143;2307146;2306307;2307192;2307195;2307060;2307065;2306302;2307108;2307141;2307164;2307165;2307171;2307176;2307183;2307196;2307107;2307103;2307177;2307110;2307104;2307112;2307038;2307063;2307114;2307061;2307062;2307064;2307102;2317568;2317567;4889904;4891431;4889977;4892041;4889989;4889990;4890036;4891430;4890012;4891397;4891406;4889906;2317272;4891914;4891915;4145112;4891379;4891434;4891452;4891951;4892131;4890027;4890025;4891481;4891911;4889880;4889905;4889978;4145452;4891446;4891476;4891879;4890030;4890034;4890004;4890015;4891479;4891880;4891448;4891436;4891440;4892021;4889940;4891881;4891884;4890016;4891381;4891912;4891917;4892130;4890028;4890013;4892019;4889998;4890014;4891477;4891916;4892112;4889980;6480464;6484113;6907045 15491423;18656466;15668187;17898087;15542513;17164972;17052673;16843865;11438578;15066130;14611812;19276232;17924206;19104678;18595729;17304115;16284884;16259780;16215387;15882261;15710456;12682842;12610055;16306328;15823807;18222984;16249511;18208670;18469848;18326229;17666800;18978347;18385799;17966842;16855620;16614115;19155524;20482400;20089076;19905967;19701463;19535570;19508392;18290317;20092989;19050296;20400704;20182399;20452453;19617880;18717637;18708360;20833968;20459697;16387809;19752857;20720199;16208318;15833367;18440671;19486528;18790652;20940264;20478301;19840961;20656925;19906920;19729668;19335954;14656931;18076762;19152028;12502811;19558673;19124761;19258635;10384061;19996575;9637726;19099677;19005677;18672096;20430255;18768196;20847078;16455992;11091283;18954648;20350425;19232006;18707039;19703829;18513272;15128813;19756023 17504241;16379602;9517988;17711627;19847187;22401175;22412377;18337562;18336625;18306985;18218038;18217191;18195571;18191726;18186796;18162936;18060801;17990036;17989610;17986095;17984846;17922439;17909104;17884183;17728497;17703412;17700210;17678915;17678722;17674321;17653092;17625600;17620002;17599774;17596666;17585540;17565659;17560067;17541284;17540042;17530998;17519498;15001559;10770925;10734056;10910894;9558100;10713092;10640778;10415069;10490959;10583963;19628738;19607806;19493460;19425063;19420105;19382425;19360811;19349390;19347053;19342158;19334035;19333930;19264973;19258923;19247692;19242540;19240255;19201759;19172384;19157676;19156204;19140875;19124744;19122644;19105348;19099590;19073147;19064579;19017985;18986692;18958622;18956302;18936436;18824472;18800033;18716401;18696265;18678243;18676680;18636124;18559339;18461620;18447907;18439751;18426815;18415893;18385174;18361934;17488389;17426779;17417600;17416433;17413295;17328045;17305874;17207890;17202846;17117952;17112859;17101151;17076674;17075265;17074812;17063508;17038526;17027916;17018392;17016617;17015691;17005260;16997300;16995340;16988194;16911685;16897666;16865553;16864989;16864713;16807236;16799229;16791620;16719905;16635746;16564576;16517749;16511411;16507178;16489254;16468043;17494888;16442182;16441357;16437690;15265023;15256089;15239133;15228586;15192276;15140220;15122808;15064621;15021309;15001640;14687706;14687494;14651522;14647058;14637022;12960233;12858455;12847218;12842758;12837926;12819030;12803993;12789231;12763925;12753088;12668159;12663241;12660426;12557141;12509457;12477932;12475226;12462338;12445801;12377943;12359436;12270118;12218153;12204866;12200463;12173306;12165487;12164740;12154092;12139952;16340468;16323127;16314800;16254204;16246299;16239564;16161154;16078996;16046258;16032408;16029496;16024972;15978191;15971427;15923218;15899487;15890969;15863470;15851378;15850807;15848524;15794069;15793370;15781227;15742444;15740484;15715189;15645140;15611878;15602730;15592421;15588341;15537425;15500552;15489334;15488313;15482330;15471370;15468376;15459010;15368437;15319853;15302103;15280531;12114533;12093895;12081195;11976403;11959378;11929421;11920567;11907119;11897701;11844139;11816717;11751963;11750041;11544456;11509627;11500196;11390394;11197694;11125885;11116158;11083865;10985253;10964543;10477718;10213461;10200305;9889151;9516414;9469451;9405404;9289016;9009162;8663314;8642344;8576227;8573157;8525373;7545673;7542919;7537088;2456327;1691736;1380064;9256481;16393999;16343773;16841089;12089333;11878903;10872839;9826729;15481145;12953261;11602715;11313374;16697675;16206161;15630704;10882583;10820198;10775626;10774549;10644351;9576751;9420238;9359702;8976200;8898753;15857508;16354571;15817944;15780175;15142381;11350939;11449371;22506069;22444510;22664104;20626297;20523058;19913121;20628086;21356384;20725607;20729133;20799037;20805685;21189258;15067078;17416748;18240029;19170196;19201454;19423540;19427114;19458908;19524301;19578796;19625176;19646363;19658300;19692168;19699525;19730683;19779041;19830727;19841187;19846984;19874825;19893003;19917679;19953896;20038229;20186291;20203694;20237496;20299965;20331378;20378664;20395963;20406964;20438785;20453000;20503287;20518834;20531015;7524281;20734064;20884746;20978355;21054877;20869067;20432237;20540976;20861350;2834384;19533303;21376715;22637726;22750227;22797700;22473756;22732186;19703339;20685145;19226274;20484300;20732991;20731692;21196302;10488085;11278738;16778803;1699135;21063127;7544376;8558019;8631850;9139699;9417081;21616095;21252118;21336628;21368236;17192395;22300682;18832695;22857950;23029252;20067109;21335555;18953865;21418786;19080516;21454528;21547257;22490648;21827949;21839152;21586622;21610221;22664781;21486440;21617311;10660125;10841574;21738469;21945445;8699119;9407497;21701779;21510799;21658938;10221653;16712791;19416867;23065234;9120310;21707929;21734400;22691208;21921047;22321225;21671175;23207898;21258798;22494696;22576913;21988832;23071760;21890375;21963154;22095608;22162987;22189589;22265023;22541401;21575514;21638128;22085486;22205974;22282655;22355269;22380870;22447977;7517217;23267209;7689610;22374185;23165450;22271279;22738652;22554651;23480650;17431094;17586317;17765942;18663025;18706447;19455469;19661268;20121167;20403075;21918813;23152559;23039889 6352 D0EI67;K7EJM0;P13501 AA443491;AA486131;AB023652;AB023653;AB023654;ABBA01011239;AC015849;AF043341;AF088219;AF266753;AK312212;AMYH01008356;AW769950;BC008600;BG272739;CB111656;CD695497;CH471147;CR980938;DQ017060;DQ230537;GD136908;GN344039;GQ504011;HY265548;M21121;NG_015990;NM_001278736;NM_002985 AAA36725;AAC03541;AAC63331;AAF73070;AAH08600;AAY22177;ABB69929;ABM82416;ABM85607;ACW84342;BAA76937;BAA76938;BAA76939;BAG35145;CAY55955;EAW80120;NP_001265665;NP_002976;P13501 Hs.514821 1745471;1791592;1791594;1791820;1791822;1791824;1791826;1791828;1791830;1791832;1792772;2164511;5014051;5019174;5022200;5022651;5037552;5109281;5113294 D11S2921;D1S1425;D8S2278;D8S2279;G10660;GDB:607766;L18426;PMC116027P1;PMC116027P2;PMC126614P1;PMC126614P2;PMC126614P3;PMC126614P4;PMC126614P5;PMC126614P6;PMC126614P7;PMC16375P1;RH103439;RH39335 D17S136E;MGC17164;RANTES;SCYA5;SIS-delta;SISd;TCP228;eoCP C-C motif chemokine 5;OTTHUMP00000163880;OTTHUMP00000197106;SIS-delta;T-cell specific protein p288;T-cell-specific protein RANTES;beta-chemokine RANTES;eoCP;eosinophil chemotactic cytokine;regulated upon activation, normally T-expressed, and presumably secreted;small inducible cytokine A5 (RANTES);small inducible cytokine subfamily A (Cys-Cys), member 5;small-inducible cytokine A5;t cell-specific protein P228 APPROVED protein-coding ENSG00000161570 10632 01751 187011 REVIEWED 5488936 CCNB1IP1P2 cyclin B1 interacting protein 1 pseudogene 2 20 44196629 44197446 - 100505892 ABBA01052660;AL121778;AMYH01011937;NG_029632 pseudo 37694 INFERRED 1321661 CCNA1 cyclin A1 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. The cyclin encoded by this gene was shown to be expressed in testis and brain, as well as in several leukemic cell lines, and is thought to primarily function in the control of the germline meiotic cell cycle. This cyclin binds both CDK2 and CDC2 kinases, which give two distinct kinase activities, one appearing in S phase, the other in G2, and thus regulate separate functions in cell cycle. This cyclin was found to bind to important cell cycle regulators, such as Rb family proteins, transcription factor E2F-1, and the p21 family proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 q12.3-q13 35904633 35915008 + 37005967 37017019 + 1580863;2316302;2316304;2289152;6480464;6907045 18612129;10068680;15800920 11076863;10373534;15232106;17353931;9843212;9041194;11256614;19056339;18692784;18372919;17530187;17455244;17098733;17047026;16799873;16449996;16381901;16007189;15829981;15489336;15456866;15342377;15159402;12579332;12477932;12121569;11884610;11733001;11381140;11264176;11172814;10926775;10559988;12190313;12383116;21145461;9636170;9663463;20457893;10196209;10068472;10022926;9244350;8565853;8125298;7969176;7478582;15050687;10679238;11584018;12628165;15649124;8463339;21412159;19379570;20013084;1628647;16774918;16777603;18787932;19668232;19738611;19843677;19886767;20219923;15004027;15138268;8756624;11598016;16159883;22763964;21646351;10652300;22712549;15583032;22500553;21563216;23042265;19423708;10790373;22529286;8397206;8397207;10995387;11340163;12800980;12970441;14681231;14701826;15601848;16191191;16519687;22370483;19786724;21764057;17274640;17308064;19270695;19477924;21628590;9860976;12191604;22718346;7799941 8900 P78396 AA553454;ABBA01021358;AF124143;AK225146;AK301897;AK314261;AK316392;AL359767;AMYH01005038;BC035479;BC036346;BG723613;BT019577;CD171793;CH471075;DC395631;DC396283;DC411883;HH771162;HH771214;NM_001111045;NM_001111046;NM_001111047;NM_003914;U66838;U97680 AAB49754;AAB60863;AAD26337;AAH36346;AAV38384;ABM82229;ABM85414;BAG36926;BAH13579;BAH14763;CAL38250;CBX86286;CBX86312;EAX08565;EAX08566;NP_001104515;NP_001104516;NP_001104517;NP_003905;P78396 Hs.417050 1649651;1675555;1793050;2176427 PMC193706P2;RH25577;RH44746;RH71252 OTTHUMP00000018259;cyclin-A1 APPROVED protein-coding ENSG00000133101 1577 04946 604036 REVIEWED 3476342 CCNB1IP1P3 cyclin B1 interacting protein 1 pseudogene 3 X X X q21.33 94556635 94557851 - 93917910 93919224 - 94031549 94032800 - 100128456 ABBA01064803;AL662819;AMYH01022692;NG_016614 pseudo 37695 INFERRED 1352366 CCNB3 cyclin B3 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as positive regulators of cyclin-dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle. Different cyclins exhibit distinct expression and degradation patterns, which contribute to the temporal coordination of each mitotic event. Studies of similar genes in chicken and drosophila suggest that this cyclin may associate with CDC2 and CDK2 kinases, and may be required for proper spindle reorganization and restoration of the interphase nucleus. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] X X X p11 54071225 54138495 + 50044280 50111653 + 50027540 50094913 + 1580863;6480464;6907045 18029348;15790807;12185076;11878934;11846420;11531413;10958988;9560267;9520381;9094673;8313904;7666531;7494303;7474100;7474080;21404461;21832049;22387997 85417 Q8WTR6;Q8WWL7 ABBA01060122;ABBA01060123;ABBA01060124;ABBA01060125;ABBA01060126;ABBA01060127;ABBA01060128;AC239396;AJ314764;AJ314765;AJ314766;AJ416458;AJ421672;AJ421673;AJ421674;AK292454;AL137550;AL591367;AMYH01022328;AY927611;BX323840;CH471180;NG_012880;NM_033031;NM_033670 AAI72237;AAI72544;BAF85143;CAB70806;CAC40024;CAC40025;CAC40026;CAC94915;CAD18845;CAD18846;CAD18847;EAW89920;EAW89921;EAW89922;EAW89923;NP_149020;NP_391990;Q8WWL7 Hs.130310;Hs.722420;Hs.722421;Hs.740165 1701958 DXS1334 G2/mitotic-specific cyclin-B3;OTTHUMP00000023292;OTTHUMP00000023293 APPROVED protein-coding ENSG00000147082 18709 02350 300456 REVIEWED 1344204 CCM2L cerebral cavernous malformation 2-like 20 20 20 q11.2 27354603 27376342 + 30061914 30083644 + 30598245 30619984 + 6480464 16344560;15489334;14702039;12477932;11780052;20237496 140706 Q5JYR8;Q9NUG4 ABBA01019285;ABBA01019286;ABBA01019287;AK057090;AK125588;AL031658;AMYH01011833;AMYH01011834;BC019892;BC030254;BC032455;CA406781;CH471077;DA936380;DB331650;NM_080625 AAH30254;AAH32455;BAB71363;BAG54219;EAW76395;EAW76396;EAW76397;NP_542192;Q9NUG4 Hs.382151;Hs.638682 1690446;1857526 RH36037;RH80084 C20orf160;FLJ43600;dJ310O13.5 CCM2-like;OTTHUMP00000030570;cerebral cavernous malformations 2 protein-like;hypothetical protein LOC140706;uncharacterized protein C20orf160 APPROVED protein-coding ENSG00000101331 16153 12753 VALIDATED 1348754 CCNA2 cyclin A2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. In contrast to cyclin A1, which is present only in germ cells, this cyclin is expressed in all tissues tested. This cyclin binds and activates CDC2 or CDK2 kinases, and thus promotes both cell cycle G1/S and G2/M transitions. [provided by RefSeq, Jul 2008] 4 4 q27 122957975 122964342 - 122737599 122745088 - 1580863;2293344;2293347;2293346;2293348;6480464;6484113;6907045 16452231;10713672;14696091;16820573 17361108;15890360;17254966;1312467;7969176;16109376;19363140;19056339;18829481;18676680;18668132;18667424;18635963;18572908;18490441;18471975;18391017;18368381;17917837;17698606;17636382;17593077;17495531;17445807;17359356;17316413;17255290;17208191;17013808;17001081;16823179;16774918;16708383;16670718;16540140;16407256;16398674;16344560;15815621;15671017;15649889;15601848;15489334;15199159;15187102;14993212;14749377;14747563;14646596;14645522;14579410;12742823;12673206;12601350;12501191;12477932;12444551;12439743;11980909;11907280;11896577;11884610;11698641;11310559;11238922;10924145;10884347;10871850;10864927;10679238;10673397;10581175;10540350;10525536;10373534;9889196;9858587;9820826;9660973;9632134;9566895;9244350;9199321;9020058;8756328;8684460;8662825;8626584;8502485;8253383;8230483;8202514;8024548;7630397;1967822;1962755;1830372;1675006;1532458;1387877;15050687;17679094;12947099;12853968;15355997;21472690;22158041;8647086;9053846;9380407;9716181;9724724;10559858;11931757;14695896;15649124;16009130;10766737;15469821;8475101;15652749;8423786;15782160;15674323;15558010;15306814;15800651;18246796;19170196;19176011;19483727;19596857;19614764;19615732;19625176;19671680;19684852;19692168;19703905;19738611;19822658;19858290;19864233;19901524;20133761;20193482;20453000;8798463;9054499;16123593;16575904;21078875;20126974;20733051;20800603;20660152;21336306;11237594;11598016;15557281;15647383;20857402;15239650;18184650;16290148;16327805;23160376;8756624;9190208;21464733;21148318;10486249;11259605;12676926;14656438;14985333;15189033;15455144;15828833;23115005;23455922;11377199;12006580;12044161;8626527;9885575;21046779;21858804;12941338;22745723;20360068;21871181;21952639;21813648;17043677;21139048;21903422;21906983;17868400;19826003;20160477;21264543;9311993;22232705;19773423;22465120;11940657;18604603;19631451;21145461;21596315;22711989;11983168;18485873;19098431;21308745;21447625;7553852;21762277;10339564;11113184;12244298;12857729;15800615;21241890;21963094;23065011;8463339;9660939;23028682;22718829 890 P20248 ABBA01044731;AC079341;AF518006;AK291931;AMYH01014492;AW276578;BC104783;BC104787;CH471056;CR407692;DA748568;NM_001237;X51688;X68303 AAI04784;AAI04788;AAM54042;AAY40969;BAF84620;CAA35986;CAA48375;CAG28620;EAX05246;NP_001228;P20248 Hs.58974 1646861;1652185;1655983;1662440;1663932;1793356;1793874;1793924;2172869;2217124;5120055;5492166 CCNA2_2853;D4S3147;GDB:193706;PMC212738P1;PMC303366P2;PMC309637P3;PMC317048P1;SHGC-24740;SHGC-50809;SHGC-59677;STS-N20583;STS-N26050 CCN1;CCNA OTTHUMP00000164087;cyclin-A;cyclin-A2 APPROVED protein-coding ENSG00000145386 1578 00453 123835 VALIDATED 1347204 CCND2P cyclin D2 pseudogene 11 11 11 q13 60334632 60335584 + 62767133 62768085 + 63010557 63011509 + 1386336;1386335 895 ABBA01003253;AMYH01003693;AP001880;M91003;NG_001092 pseudo 1584 INFERRED 736281 CCNC cyclin C The protein encoded by this gene is a member of the cyclin family of proteins. The encoded protein interacts with cyclin-dependent kinase 8 and induces the phophorylation of the carboxy-terminal domain of the large subunit of RNA polymerase II. The level of mRNAs for this gene peaks in the G1 phase of the cell cycle. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 q21 100096984 100123411 - 99990263 100016690 - 1580863;6480464 7568034;17385550;17089020;16341674;15863722;15175163;15084261;14574404;12600719;12584197;12477932;11416138;10235266;10198638;10024883;9734358;9710619;9443979;9121429;8833152;8700522;8125298;7738192;7698009;1833066;1260071;9150135;18508766;11867769;12392551;19683536;19967789;17207965;19914168;23322298;10353252;20133760;10882111;21890473;21906983;10993082;15328539;23563140;23630251;21729782;21988832;22024040;21806996 892 E5RFK5;E5RFX8;E5RHL8;E5RI39;E5RIH8;G5E954;H0YBQ5;J3KP90;P24863;Q5JV82;Q7Z4L3 AB125137;ABBA01014480;AK130983;AK222768;AK223247;AK291914;AK298558;AL137784;AMYH01016537;BC010135;BC026272;BC030159;BC041123;BC050726;BC056153;BM788717;CH471051;M74091;NM_001013399;NM_005190;U40739 AAC50825;AAH10135;AAH26272;AAH41123;AAH56153;ADQ32557;BAD00144;BAF84603;BAG60753;EAW48465;EAW48466;EAW48467;EAW48468;NP_001013417;NP_005181;P24863 Hs.430646;Hs.633351 1680250;1714849;1726603;2106973;2140153;2158474;2159092;2169672;2179408;5037552 CCNC_7758;D8S2279;G62534;RH120419;RH17736;RH63708;RH77919;RH78338;RH80330;SHGC-34355 CycC OTTHUMP00000016897;OTTHUMP00000225533;OTTHUMP00000225534;OTTHUMP00000225536;OTTHUMP00000225537;OTTHUMP00000225538;OTTHUMP00000225539;OTTHUMP00000225540;OTTHUMP00000225541;SRB11 homolog;cyclin-C;hSRB11 APPROVED protein-coding ENSG00000112237 1581 00456 123838 REVIEWED 733179 CCNB1 cyclin B1 The protein encoded by this gene is a regulatory protein involved in mitosis. The gene product complexes with p34(cdc2) to form the maturation-promoting factor (MPF). Two alternative transcripts have been found, a constitutively expressed transcript and a cell cycle-regulated transcript, that is expressed predominantly during G2/M phase. The different transcripts result from the use of alternate transcription initiation sites. [provided by RefSeq, Jul 2008] 5 5 q12 68498669 68509828 + 68462837 68474072 + 1358139;1580863;2296040;2315934;2315936;2315937;2289230;2315935;2293596;2315938;2315939;2315940;2315046;2315941;2316310;2315990;2315991;2314685;2315994;6480464;6907045 12610511;19957331;19608149;19223507;17483252;19666607;18006855;16614707;11146550;10193948;12670908;16557593;20031167;18278459;17342310;19298605;16242239 8756624;9001210;10373560;11285280;10793135;1717476;10395539;1384126;1828290;7799941;11598127;12791267;16109376;19470724;19369249;19293801;19028417;18820706;18799590;18692784;18671143;18593994;18491248;18414058;18408012;18372919;18353325;18337751;18281511;18195732;18048386;17881737;17668170;17655707;17598982;17533373;17513602;17495533;17495531;17472438;17466630;17445807;17408621;17388661;17386261;17373649;17359356;17359284;17242210;17242184;17167975;22163316;17431037;22158041;22266860;8397206;8397207;9053846;16880739;16784539;16478538;16322753;16273239;16237118;16221667;16142332;16009132;15931389;15790566;15767402;15710382;17098733;15635413;15541388;15489334;15215233;15181148;15016823;14760118;14645578;12865421;12839990;12775724;10799291;11562349;11751633;11836499;15623561;18471975;21145461;21596315;22529100;22532137;12738867;12684677;12612082;12586340;12515609;12483522;12477932;12468530;12447691;12424202;12397081;12379461;12200597;12124778;12115375;12068134;12054478;12009577;11960377;11878934;11809526;11779217;11732576;11691994;11642719;11572993;11531413;11444800;11310559;11260656;11242082;10958988;10864927;10716937;10581175;10421840;9926943;9813064;9679058;9560267;9520381;9499405;9244350;9094673;8662825;8402895;8101826;7876309;7843284;7737117;7666531;7494303;7474100;7474080;2570636;1836978;1387877;1386342;8524869;16751065;15265780;17679094;10973963;9891079;10362260;15989971;15916961;15654331;8475101;9515786;11331587;8070405;8463339;11559705;11278247;16407259;17327911;17389604;19505905;19609944;19614764;19724852;19738611;19763267;19968870;20095356;20097574;20103625;20171170;20360007;20368335;20404109;20412769;20453000;20508983;7769006;9247342;20526282;21276999;19855194;20334896;16479161;16799550;20808790;15256223;16474839;18591933;20937773;20733055;20661218;12097298;16082198;16159883;16226712;20660152;20810654;20927403;21336306;19134343;18059335;20080579;20228808;20367638;21148318;15024056;18652313;22905155;22682366;22939629;20890132;17850284;14993212;20169205;21488187;21569376;21525341;21379580;12524548;19475398;19820702;20360068;21952639;8889548;10995390;22965228;9885575;21174181;21504622;21871181;21925791;16275333;16921029;17586317;18445273;19275580;19275586;19344781;19458171;19825974;20956543;21489275;22552851;21965721;19786724;22137483;7903056;14701726;15749827;20383333;20733051;20965177;21900495;22193957;21139048;21890473;21906983;22157815;22071694;22482362;17274640;17360335;19826003;20160477;21120602;21264543;21628590;22391203;22508987;22726437;22024133;21900748;22286100;22253775;10339564;21241890;21963094;22014574;22024040;23007861;23091007;23239745;23253261;23383273;11113184;11238118;23114644;9315635;22580043 891 D6RHI0;E9PC90;H0Y9U8;H0YA62;P14635;Q5TZP9 ABBA01048284;AC010273;AC022107;AI972071;AK289431;AM851053;AMYH01015145;AY027761;AY027762;AY027763;AY027764;AY027765;AY027767;AY027768;AY027769;AY027770;AY338491;BC006510;BI253686;BM979016;BT020128;CH471137;HH771226;M25753;NM_031966;S74452;U22364 AAD14154;AAD14818;AAH06510;AAK27417;AAK27418;AAK27419;AAK27420;AAK27421;AAK27422;AAK27423;AAK27424;AAK27425;AAP88038;AAV38930;ABM83901;BAF82120;CAO99273;CBX86318;EAW51306;NP_114172;P14635 Hs.23960 1789811;1789813;1789815;1789817;1792168;1794560;1794562;1795482;2182452;5491846 CCNB1;CCNB1_1683;G31135;PMC138289P1;PMC31860P1;PMC31860P2;csnpccnb1-pcr3-1;csnpccnb1-pcr6-1;csnpccnb1-pcr7-1;csnpccnb1-pcr9-1 CCNB G2/mitotic-specific cyclin B1;G2/mitotic-specific cyclin-B1;OTTHUMP00000123478;OTTHUMP00000221981;OTTHUMP00000223023 APPROVED protein-coding ENSG00000134057 1579 00454 123836 REVIEWED 1350463 CCND3P cyclin D3 pseudogene 10 10 p11.23 30457042 30457669 - 30692123 30692750 - 1386336;1386335 897 ABBA01034345;AL161651;AMYH01002217;M90815;NG_001093 1654365 AFMa348zg9 pseudo 1586 INFERRED 1342952 CCNB1IP1 cyclin B1 interacting protein 1, E3 ubiquitin protein ligase HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM, Apr 2004] 14 14 14 q11.2 640677 662605 - 19849369 19871297 - 20779527 20801471 - 1580863;6480464 16712791;12612082;16532029;16381901;16344560;16189514;15489336;15489334;14702039;12477932;11230166;11076863;8889549;8125298;16341674;21832049;21906983;21779533;21628590 57820 G3V5E6;G3V5Q4;G3V5S3;H0YJ70;H0YJB2;Q9NPC3 AA101731;ABBA01061223;ABBA01061224;ABBA01061225;AF216381;AI301662;AK026233;AK225253;AK225451;AK226037;AK309183;AL161994;AL355075;AL356019;AMYH01005585;AMYH01005586;BC000369;BC001218;BC004435;BI763317;BI771433;BI917081;BM741413;BX161423;BX161424;BX247978;BX334446;CB113193;CH471078;CS072465;DB029392;NM_021178;NM_182849;NM_182852 AAF36386;AAH00369;AAH01218;AAH04435;BAB15403;CAB82326;CAD61896;CAD61897;CAD62312;CAI93603;CAL37971;CAL38527;EAW66479;NP_067001;NP_878269;NP_878272;Q9NPC3 Hs.107003;Hs.741214 1688574;1764671;2147659;2151852 A002Q36;G36286;RH36757;SHGC-148260 C14orf18;HEI10 E3 ubiquitin-protein ligase CCNB1IP1;OTTHUMP00000163984;OTTHUMP00000163985;OTTHUMP00000163986;OTTHUMP00000244397;cyclin-B1-interacting protein 1;enhancer of invasion 10;human enhancer of invasion 10 APPROVED protein-coding ENSG00000100814 19437 07000 608249 VALIDATED 1317801 CCNB2 cyclin B2 Cyclin B2 is a member of the cyclin family, specifically the B-type cyclins. The B-type cyclins, B1 and B2, associate with p34cdc2 and are essential components of the cell cycle regulatory machinery. B1 and B2 differ in their subcellular localization. Cyclin B1 co-localizes with microtubules, whereas cyclin B2 is primarily associated with the Golgi region. Cyclin B2 also binds to transforming growth factor beta RII and thus cyclin B2/cdc2 may play a key role in transforming growth factor beta-mediated cell cycle control. [provided by RefSeq, Jul 2008] 15 15 q22.2 57184612 57204536 + 59397284 59417244 + 1580863;6480464;6907045 17388661;10958988;15232106;1717476;11256614;19223528;18692784;17549666;17533373;15489336;15489334;14718574;14702039;12727876;12482752;12477932;11960377;11878934;11531413;11230166;11076863;17289878;16381901;9926943;9560267;9539739;9520381;9094673;8125298;8070405;7737117;7666531;7494303;7474100;7474080;19738611;18591933;19454010;20660152;21161946;19664331;22939629;9356466;20360068;19786724;20972266;21139048;21890473;23282137;22916037 9133 H0YMP3;O95067 AB020981;ABBA01038969;ABBA01038970;AC092757;AF002822;AF087910;AK001404;AK222611;AL080146;AM851054;AMYH01006683;AY864066;BC105086;BC105112;BT019458;BU934242;CH471082;CR533527;HH771252;NM_004701 AAD09309;AAI05087;AAI05113;AAP97207;AAV38265;AAW34361;BAA78387;BAD96331;BAG50905;CAB45739;CAG38558;CAL38454;CAO99274;CBX86331;EAW77563;NP_004692;O95067 Hs.194698 5023459 WI-11753 HsT17299 G2/mitotic-specific cyclin-B2;OTTHUMP00000163570 APPROVED protein-coding ENSG00000157456 1580 04131 602755 REVIEWED 730903 CCND2 cyclin D2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. [provided by RefSeq, Oct 2008] 12 12 p13 4253199 4284777 + 4382902 4414522 + 1581171;1580863;2289152;2289159;2289160;2289180;2289181;2289149;2289150;2289151;2289153;2289156;2289157;2289154;2289155;2289158;2296039;2296041;2296038;6480464;6907045 15755896;15800920;18068478;18055803;15654821;15059925;17549626;17017434;17016690;15797629;14601057;11994539;15747581;15131050;11289162;17167184;11358847;17270028 19252133;19124506;18950845;18930031;18827403;18714005;18635970;18507837;18483325;18431519;18391076;18281541;18174243;17882269;17873913;17486076;17409409;16548914;16189514;15613482;15509806;15489334;15245432;15169570;15065884;14641107;14612939;14581343;12777997;12771922;12477932;12112307;11992406;11839508;11726322;11469683;11301189;11285977;11254678;11209538;11042687;10508165;10398124;9858559;9422379;11896535;8114739;19641124;19577536;19258477;9003781;8945475;8887674;8621559;8455931;8343202;8125298;7739547;1386336;1386335;11360184;11311237;16357142;15735688;15531890;11291051;16182291;16287839;16765349;19107115;19464003;19608671;19618401;19679881;19738611;19890848;20066902;20414251;19508551;18504428;21048031;20628624;20677014;19945765;20473882;20939487;21039844;20418948;21059263;9885575;22848417;23000965;19379567;21504716;20077038;21521747;21790895;21878650;22954617;23266556;23348698;21139048;21906983;22395070;21479697;22323446;22330340;10049762;21745168;22004425;9178893;11900540;18029348;22048254;8756624;23466356;22853316;23255553;23222517;23251661;23263487;23377640;23459443;22534667 894 H0YGD4;P30279 ABBA01048766;ABBA01048767;AC006122;AF518005;AI055922;AK223577;AK291146;AMYH01004196;BC010958;BC014357;BC089384;BT019847;BX476896;BX647508;CH471116;D13639;M88080;M88081;M88082;M88083;M90813;NM_001759;X68452 AAA51926;AAA51928;AAH10958;AAH89384;AAM54041;AAV38650;ABM83771;ABM87090;BAA02802;BAD97297;BAF83835;CAA48493;EAW88851;NP_001750;P30279 Hs.376071 1665759;1795230;2137086;2153979;2190527;5017597 CCND2;CCND2_91;D12S1880;EST16F6;RH68283;RH70876 KIAK0002;MGC102758 G1/S-specific cyclin D2;G1/S-specific cyclin-D2;OTTHUMP00000237990 APPROVED protein-coding ENSG00000118971 1583 00451 123833 VALIDATED 68556 CCND1 cyclin D1 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. [provided by RefSeq, Jul 2008] 11 11 q13 69165054 69178423 + 69455873 69469242 + 704385;1581171;704405;1358139;1580863;704404;704417;704409;2289126;2289128;2289133;2289283;2289336;2289127;2289129;2289130;2289132;1625408;2289139;2289144;2289145;2289147;2289131;2289134;2289337;2296034;2296032;2293574;2296036;2296033;2296037;6480464;6484113;6907045;7240710 12163013;15755896;12668975;11125071;18194538;17908994;12203362;14968434;12649181;17924468;17695500;15538282;14612904;17137605;17055752;16896691;16718823;16696308;15647071;17996899;12602925;18306533;18548202;18301453;18025280;18355450;17440082 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595 F5H437;P24385;Q6FI00 AB075505;ABBA01010292;AF511593;AK299044;AK313136;AMYH01003772;AP001824;AP001888;AY830112;BC000076;BC001501;BC014078;BC023620;BC025302;BM796500;BT019844;BT019845;CH471076;CR536538;CR542099;L09054;M64349;M73554;M74092;NG_007375;NM_053056;S71637;X59798;Z29078 AAA36481;AAA52136;AAA58392;AAH00076;AAH01501;AAH14078;AAH23620;AAH25302;AAM34300;AAV38647;AAV38648;AAV91344;ABM82774;ABM85964;BAG35955;BAG61118;CAA42470;CAA82318;CAG38775;CAG46896;CAL38071;CAL38308;CAL38470;EAW74746;EAW74747;EAW74748;NP_444284;P24385 Hs.523852 1645639;1674820;1741531;1742587;1791966;1792594;1793092;1793868;1794574;1795116;1795484;2150478;5120692 CCND1;CCND1_504;GDB:181402;GDB:197910;GDB:371378;PMC133966P1;PMC154232P2;PMC196063P1;PMC303366P1;PMC321442P2;PMC98458P1;RH67810;WI-16756 BCL1;D11S287E;PRAD1;U21B31 B-cell CLL/lymphoma 1;B-cell lymphoma 1 protein;BCL-1 oncogene;G1/S-specific cyclin D1;G1/S-specific cyclin-D1;OTTHUMP00000237144;PRAD1 oncogene APPROVED protein-coding ENSG00000110092 1582 01346 114500;168461;193300 REVIEWED 4888880 CCNG1P1 cyclin G1 pseudogene 1 6 6 6 q23.2 133766746 133767629 + 133061754 133062459 + 133019922 133020805 + 100130820 ABBA01025878;AL032821;AMYH01016676;NG_012147;NG_022372 pseudo 39177 INFERRED 1312246 CCNDBP1 cyclin D-type binding-protein 1 This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Several alternatively spliced variants have been found for this gene. [provided by RefSeq, Apr 2009] 15 15 q14-q15 41264832 41274688 + 43477466 43489375 + 1580863;6480464 10915743;15887118;12437976;19153449;18983464;18923419;17621266;17532760;16501603;16344560;16303743;16189514;12477932;12434312;10854051;10801854;8125298;16169070;17324930;20460530;16951160;17131381;22990118;11118353;17407970;21906983;22453338 23582 B4DHB5;H3BQA6;H3BR23;H3BT91;H3BUF4;Q9NYH3 ABBA01038351;AC068724;AF082569;AF087852;AF113535;AF132034;AF246144;AI953224;AK075146;AK075296;AK124193;AK128849;AK225143;AK225645;AK290665;AK290707;AK295017;AK308817;AL552334;AMYH01006587;AMYH01006588;BC009689;BI911845;BQ439439;CB104739;CH471125;CR450331;CS131150;DA210890;DA506028;DA734945;DB492361;NM_012142;NR_027513;NR_027514;NR_045998;NR_045999 AAD11777;AAF14872;AAF67182;AAF77613;AAH09689;AAP97163;ABM85050;BAC11433;BAC11530;BAC87645;BAF83354;BAF83396;BAG54020;BAG58076;CAG29327;CAJ21094;EAW92588;EAW92589;EAW92590;NP_036274;O95273 Hs.36794 1770291;1775438;2131040;2145136;2152139;2169453;5118444 A002Q01;D11S3316;D15S1287;RH44772;RH71146;STS-R42458;WI-16359 DIP1;GCIP;HHM D-type cyclin-interacting protein 1;HHM Protein;MAID protein;OTTHUMP00000161296;cyclin-D1-binding protein 1;grap2 and cyclin-D-interacting protein;grap2 cyclin interacting protein;human homolog of Maid APPROVED protein-coding 1587 06156 607089 REVIEWED 1317175 CCNE2 cyclin E2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2. This cyclin has been shown to specifically interact with CIP/KIP family of CDK inhibitors, and plays a role in cell cycle G1/S transition. The expression of this gene peaks at the G1-S phase and exhibits a pattern of tissue specificity distinct from that of cyclin E1. A significantly increased expression level of this gene was observed in tumor-derived cells. [provided by RefSeq, Jul 2008] 8 8 q22.1 95961628 95976660 - 95892452 95907482 - 1580863;6480464;6907045 9840943;12477932;15232106;9858585;7799941;11907280;7629134;10454565;19107233;19084516;16740753;16620772;12466974;9840927;8889549;17254966;19564413;19603101;19638577;19738611;21832049;21789246;15717329;21906983;22394640;23324394;23324395;23455922 9134 E5RHN2;E5RK20;H0YBQ2;O96020;Q8WUE3 AA830205;ABBA01037468;AC087752;AF091433;AF102778;AF106690;AF112857;AMYH01018895;AP003692;AY850195;BC007015;BC020729;BG720611;BJ990268;CH471060;DB547256;NG_029611;NM_057749 AAC78145;AAC80528;AAD08816;AAD08819;AAH07015;AAH20729;AAV97813;ABM84420;ABM87365;EAW91727;EAW91728;EAW91729;EAW91730;EAW91731;EAW91732;NP_477097;O96020 Hs.521693 1647646;1675319;1795486 CCNE2_76;RH93674;SHGC-30660 CYCE2 G1/S-specific cyclin E2;G1/S-specific cyclin-E2;OTTHUMP00000227247;OTTHUMP00000227248 APPROVED protein-coding ENSG00000175305 1590 04801 603775 REVIEWED 736176 CCND3 cyclin D3 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activtiy is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. The CDK4 activity associated with this cyclin was reported to be necessary for cell cycle progression through G2 phase into mitosis after UV radiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 6 6 p21 42010649 42017530 - 41902671 42016610 - 1580863;1581171;2316011;2316013;2316015;2316016;2316018;2316020;2316019;2316005;2316007;2316012;2316009;6480464;6907045 15755896;17885491;14751136;12853979;11329139;19276076;16311245;18008145;19142864;18679818;16482499;18317945 11896535;15232106;17274640;17517622;8114739;19258477;19237555;19204726;19124506;18701138;18676680;18660489;18570922;18507837;18391076;18358634;18281541;18174243;18084330;18019405;17882269;17698582;17467662;17413032;17409409;17300668;16920920;16916940;16884382;16815849;16569260;16360641;16344560;16322284;16303160;16300731;16287839;16189514;16105657;15671552;15569667;15489334;15358120;15327989;15326477;15305377;15252116;14747476;14702039;14666699;14645576;14641107;14576819;14574404;12890807;12778072;1386336;1386335;1383201;15050687;11311237;16357142;17972097;16169070;1387066;12647795;12611887;12482873;12477932;12130539;12082095;12036888;12011445;11895902;11864973;11726322;11469683;11375949;11360184;11301189;11042687;10891505;10398124;10342870;10318807;9858559;9713342;8887674;8668211;8621559;8490963;7908906;9716181;22362728;16600870;19170196;19473963;19625176;19639271;19692168;19706544;19738611;19820697;19853236;19862010;20097574;20107311;20113529;20453000;20631637;20465575;20821231;21048031;9106657;21832049;21507922;10597239;20229177;22858673;23376478;9545286;21965782;21841808;22037875;8978686;16985050;23160194;16782892;8756624;21988832;22763761;23240690;23222517;23263863;23319000 896 D6RDF8;D6RDL3;D6RI00;D6RIX2;H0Y8M4;P30281;Q5T8J1 AB209825;ABBA01050738;ABBA01050739;ABBA01050740;ABBA01050741;ABBA01050742;ABBA01050743;ABBA01050744;AF517525;AK055519;AK057206;AK096276;AK097856;AK299187;AK303452;AK315421;AL160163;AL513008;AMYH01016298;AMYH01016299;AMYH01016300;AMYH01016301;BC011616;CH471081;CR542246;DA069566;DB001987;DC360231;M88085;M88086;M88087;M90814;M92287;NM_001136017;NM_001136125;NM_001136126;NM_001760;U47285 AAA51927;AAA51929;AAA52137;AAH11616;AAM51826;ABM82674;ABM86056;BAD93062;BAG37810;BAG51531;BAG51884;BAG53245;BAG61231;BAG64497;CAG47042;EAX04070;EAX04071;EAX04072;EAX04073;EAX04074;EAX04075;EAX04076;NP_001129489;NP_001129597;NP_001129598;NP_001751;P30281 Hs.534307 1341803;1775670;1778273;1795232;2115045;2117699;5121720 CCND3_93;D6S1441;D6S1552;D6S2062;G34997;RH16378;STS-N70302 D3-type cyclin;G1/S-specific cyclin D3;G1/S-specific cyclin-D3;OTTHUMP00000016390;OTTHUMP00000016391;OTTHUMP00000223406;OTTHUMP00000223407;OTTHUMP00000223408;OTTHUMP00000223409;OTTHUMP00000223413;OTTHUMP00000223414;OTTHUMP00000223415 APPROVED protein-coding ENSG00000112576 1585 00452 123834 REVIEWED 736837 CCNF cyclin F This gene encodes a member of the cyclin family. Cyclins are important regulators of cell cycle transitions through their ability to bind and activate cyclin-dependent protein kinases. This member also belongs to the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it was one of the first proteins in which the F-box motif was identified. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 2693713 2723233 + 2419396 2448860 + 2479395 2508859 + 634645;1580863;6480464 7896286 8706131;16344560;15489334;12477932;12122006;10716937;7813445;7626882;21640084;20596027;21963094;23000965;23182110;23486064;22158041;22632967;21139048;21906983;21987572;17215248 899 H0Y2P7;H3BUD3;P41002;Q59HD0 AB208829;ABBA01030256;ABBA01030257;ABBA01030258;AC106820;AK313371;AMYH01007058;BC012349;CH471112;DA960397;DB523776;NM_001761;U17105;Z36714 AAB60342;AAH12349;ABM81701;BAD92066;BAG36170;CAA85308;EAW85510;NP_001752;P41002 Hs.1973 1677304;1680737;5015881 GDB:335751;RH98649;SHGC-12618 FBX1;FBXO1 F-box only protein 1;G2/mitotic-specific cyclin-F;OTTHUMP00000159081;cyclin-F APPROVED protein-coding ENSG00000162063 1591 02574 600227 REVIEWED 736488 CCNE1 cyclin E1 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. Two alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been described. Two additional splice variants were reported but detailed nucleotide sequence information is not yet available. [provided by RefSeq, Jul 2008] 19 19 q12 34994741 35007059 + 30302901 30315215 + 1358139;1580863;2289228;2289266;2289273;2289336;2289225;2289229;2289230;2289231;2289255;2289267;2289268;2289277;2289281;2289283;2289287;2289293;2289296;2289337;2289265;2289335;2296041;2296035;2296042;2293574;6480464;6484113;6907045 17726548;16949911;17825795;12649181;18089785;17671189;17483252;17483245;17471573;16739882;16538218;17196522;16759516;14968434;16116079;14614307;12847112;12602925;17308103;12713563;11358847;18047954;17647260;18301453 16124066;8662825;20607601;15572661;9891079;8207080;7799941;11907280;7629134;10454565;19617534;19587092;19470724;19321444;19305161;19258477;19179977;19124506;19107593;19064572;19058005;19010853;18959818;18799789;18799628;18607847;18507837;18381935;18281541;18276582;18208561;18174243;17664332;17409409;17360482;17325036;17218276;16912169;16823179;16799991;16761619;16740753;16627785;16609025;16582606;16538501;16504183;16391523;16344560;16322693;15800668;15709169;15708847;15665273;15660127;15611651;15557791;15489334;15467469;15197178;15191351;15178429;15060836;15007381;14965268;14719078;14645251;14612403;14536078;12824885;12778072;12777997;12729791;12647795;12607005;12601350;12553912;12533700;12477932;12444551;12133429;12114499;12101670;12096344;12096339;11919196;11884622;11877298;11838966;11733001;11565033;11533444;11259605;11237742;11221854;11175348;10995387;10995386;10953010;10908655;10851086;10827081;10751146;10581175;10500095;10499591;9840943;9819444;9731206;9525916;9472014;9223324;9192874;9153308;9012818;8861947;8833152;8756624;8649818;8618861;8617791;8253383;8230483;7739542;7698009;1833068;1833066;1388288;1388095;9453249;16289656;15343382;17646408;15004009;12839982;12529437;17525332;11085541;12628165;15469821;14739463;9632134;14999283;21458381;21472690;10359664;10393546;22158041;8647086;8867812;8891332;9053846;9192873;9218599;9380407;9716181;9840927;11940657;16338364;17298674;18508766;18851830;19631451;22120721;22285861;15800651;16109376;16191374;16223725;17192413;17254966;17434132;18029348;18344087;18651214;19423708;19454496;19505905;19561641;19569046;19574535;19585504;19603101;19670700;19713765;19724860;19738611;19787784;19801544;19860623;19925052;20001501;20107311;20171175;20385564;20453000;20508983;21150326;20453888;17822621;20336784;20102401;20530684;20530685;15004027;20465575;19615252;20837705;16818231;15980150;20972438;21048031;21103391;15024056;15557281;17293600;19621596;21092281;23109421;9190208;21179471;21315112;17254967;20587660;21464733;19236751;21746877;21515670;8769642;10790373;21965652;10202152;16765349;9545286;9885575;23543735;19084516;21792910;21620836;21918011;21148318;21952639;18977205;19111882;20837141;22449977;10499802;11132966;11477082;12800980;14701826;15514162;15555599;15670215;17361108;17431037;17970072;22441703;21597324;13678583;15364936;18559665;19318554;21941773;22388891;22558078;8978686;9311993;21750416;15980415;21372285;10339564;21241890;21988832;22763761;23453757;9660939;22763964;23378270;10486249;10593981;12676926;23383003;23455922;11565034;17661632;18455747;22959436;12857729;14985333;19470470;22460364;23185313;9139732;9886493;22958293;23324395 898 C9J2U0;I3L1Q9;I3L413;P24864 ABBA01039551;ABBA01039552;AC008798;AF518727;AK291549;AMYH01009674;AMYH01009675;AU137789;BC035498;BE645164;L48996;M73812;M74093;NM_001238;X95406 AAH35498;AAM54043;ABM84309;ABM87702;BAF84238;CAA64687;CAA64688;NP_001229;P24864 Hs.244723 1680469;1791940;1794646;2220244;5038522 CCNE1;PMC133799P2;PMC341775P1;RH65121;RH80073 CCNE G1/S-specific cyclin-E1;cyclin Es;cyclin Et;cyclin e APPROVED protein-coding ENSG00000105173 1589 00455 123837 REVIEWED 735830 CCNG1 cyclin G1 The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The protein encoded by this gene is a member of the cyclin family and contains the cyclin box. The encoded protein lacks the protein destabilizing (PEST) sequence that is present in other family members. Transcriptional activation of this gene can be induced by tumor protein p53. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 5 5 q32-q34 162797155 162804600 + 162864577 162872022 + 634709;1580863;2316022;2316023;2316025;2316027;6480464;6484113;6907045 8954786;16845792;12634633;12214116;9698156 8626390;18981217;18632610;18408012;17868090;17616664;16322753;15489334;15077171;12684677;12556559;12477932;11956189;10196184;10194136;9013862;8887688;8806701;19698214;19584283;19738611;12642871;21832049;23589924;22271581;22105316;21688120;22649121;21988832;22835824 900 B4DLW7;D6RCC5;D6RD30;D6RGX3;E7ERZ1;P51959 ABBA01044183;AC112205;AK297190;AK312913;AK316234;AMYH01015770;AY791292;BC000196;BC007093;BM479568;BT007134;BX538035;BX644635;CH471062;D78341;D86077;L49504;NM_004060;NM_199246;U47413;U53328;X77794 AAB03903;AAC41977;AAC50688;AAH00196;AAH07093;AAP35798;AAV40836;ABM84691;ABW03627;BAA11353;BAA13007;BAG35759;BAG59679;BAH14605;CAA54821;CAD97979;EAW61528;EAW61529;EAW61530;NP_004051;NP_954854;P51959 Hs.79101 1795488;2172804;2172806;5037552 A006A21;CCNG1_505;D8S2279;G20650 CCNG OTTHUMP00000160918;OTTHUMP00000223690;OTTHUMP00000223691;OTTHUMP00000223692;OTTHUMP00000223693;OTTHUMP00000223697;cyclin-G;cyclin-G1 APPROVED protein-coding ENSG00000113328 1592 03345 601578 REVIEWED 1312769 CCNG2 cyclin G2 The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The 8 species of cyclins reported in mammals, cyclins A through H, share a conserved amino acid sequence of about 90 residues called the cyclin box. The amino acid sequence of cyclin G is well conserved among mammals. The nucleotide sequence of cyclin G1 and cyclin G2 are 53% identical. Unlike cyclin G1, cyclin G2 contains a C-terminal PEST protein destabilization motif, suggesting that cyclin G2 expression is tightly regulated through the cell cycle. [provided by RefSeq, Jul 2008] 4 4 q21.1 78297551 78306970 + 78078357 78091213 + 1580863;6480464;6907045 8626390;18784254;18754885;18025271;17123511;16608856;16364039;12477932;12452053;11956189;8806701;14702039;19559447;19738611;20677014;21532621;22589537;21688120;22596188 901 B4DF25;D6RHI3;Q16589;Q6FGC6;Q8N5D4 ABBA01063371;AC104771;AF549495;AK054785;AK092638;AK292029;AK293899;AL080193;AMYH01014319;BC032518;BT019503;CA429362;CH471057;CR542181;CR542200;DC344594;L49506;NM_004354;U47414 AAC41978;AAC50689;AAH32518;AAN40704;AAV38310;ABM81762;ABM84917;BAF84718;BAG57286;CAG46978;CAG46997;EAX05812;EAX05813;EAX05814;NP_004345;Q16589 Hs.740456 1643674;1850324;1857604;2138287;2152465;2180040 A002S05;Cda1eb10;D4S1351;D4S2551E;SHGC-50382;SHGC-59681 OTTHUMP00000160591;OTTHUMP00000160592;OTTHUMP00000219366;OTTHUMP00000219367;cyclin-G2 APPROVED protein-coding ENSG00000138764 1593 04438 603203 REVIEWED 1314992 CCNJ cyclin J 10 10 10 q23.33 91544376 91561843 + 97793141 97810612 + 97803159 97820627 + 737633;1580863;6480464 12477932 16341674;14702039;17207965;19322201 54619 Q5T5M9 ABBA01021832;AK001757;AK025932;AK092360;AK297264;AK303018;AL356155;AMYH01002970;BC043175;BM789816;CH471066;NM_001134375;NM_001134376;NM_019084 AAH43175;ADQ32987;BAA91887;BAG52537;BAH12533;BAH13880;EAW49984;NP_001127847;NP_001127848;NP_061957;Q5T5M9 Hs.596479 1778534;1778754 RH66368;T16093 bA690P14.1 OTTHUMP00000020165;OTTHUMP00000035219;cyclin-J protein-coding ENSG00000107443 23434 07710 VALIDATED 3516297 CCNJP2 cyclin J pseudogene 2 1 1 91474965 91476106 + 93221371 93222512 + 100418724 ABBA01045534;AC104332;AMYH01000800;NG_022793 pseudo 37997 INFERRED 2290194 CCNI2 cyclin I family, member 2 5 5 5 q31.1 128213236 128219955 + 132111036 132117755 + 132083137 132089856 + 12477932 645121 Q6ZMN8 ABBA01068802;AC004775;AK131553;AMYH01015616;BC132837;BC136836;BC144416;BC144417;NM_001039780 AAI32838;AAI36837;AAI44417;AAI44418;BAD18687;NP_001034869;Q6ZMN8 Hs.714496 1698462;1785372;1800142;1800692;1801360;1801536;1801626;1802400;1821708;1824306;1839512;2001202;2001204;2001206;2001208;2001210;2001212;2001214;2001216;2001218;2001220;2001222;2001224;2001226;2001228;2001230;2001232;2001234;2001236;2001238;2001240;2001242;2001244;2001246;2001248;2001250;2001252;2001254;2001256;2001258;2001260;2001262;2001264;2001266;2001268;2001270;2001272;2001274;2001276;2001278;2001280;2001282;2096422;2096424;2096426;2096428;5091772 ECD00927;ECD01207;ECD01552;ECD01646;ECD01691;ECD02085;ECD11940;ECD13251;ECD20938;REN71513;REN71514;REN71515;REN71516;REN71517;REN71518;REN71519;REN71520;REN71521;REN71522;REN71523;REN71524;REN71525;REN71526;REN71527;REN71528;REN71529;REN71530;REN71531;REN71532;REN71533;REN71534;REN71535;REN71536;REN71537;REN71538;REN71539;REN71540;REN71541;REN71542;REN71543;REN71544;REN71545;REN71546;REN71547;REN71548;REN71549;REN71550;REN71551;REN71552;REN71553;RH102780;SHGC-132851;SHGC-53463;stSG601492;stSG601493;stSG601494;stSG601496 FLJ16793 OTTHUMP00000066078;cyclin-I2 protein-coding ENSG00000205089 33869 PROVISIONAL 1353870 CCNJP1 cyclin J pseudogene 1 7 7 7 p11.2 67346762 67347913 - 56263818 56264969 - 56296324 56297475 - 100128459 ABBA01061860;AC006970;AMYH01017283;NG_017085 CCNJP APPROVED pseudo 22512 INFERRED 1319424 CCNI cyclin I The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin shows the highest similarity with cyclin G. The transcript of this gene was found to be expressed constantly during cell cycle progression. The function of this cyclin has not yet been determined. [provided by RefSeq, Jul 2008] 4 4 4 q21.1 75270553 75298504 - 78188189 78216149 - 77969165 77997125 - 1580863;6480464 9705831;17507299;15489334;12477932;8125298;7493655;19322201;17043677;21890473;21906983 10983 B7Z6X4;D6RDK3;D6REZ3;D6RG12;D6RH01;H0YA27;Q14094 AB209766;ABBA01063370;AC104771;AC111196;AF135162;AK222931;AK301111;AK312632;AMYH01014319;AY207372;BC000420;BC004975;BT020019;CH471057;CR541783;D50310;NM_006835 AAF43786;AAH00420;AAH04975;AAO13492;AAV38822;ABM82786;ABM85975;BAA08849;BAD93003;BAD96651;BAG35517;BAH13410;CAG46582;EAX05808;EAX05809;EAX05810;NP_006826;Q14094 Hs.518827 1673421;1706918;1711194;1754619;1849718;2116625;2127144;2127263;2169076;2178185 D4S3098;D4S494;SHGC-132958;SHGC-58048;SHGC-59775;SHGC-64017;SHGC-67650;SHGC-80948;SHGC-85345;STS-N58372 CYC1;CYI OTTHUMP00000160599;OTTHUMP00000219203;cyclin ITI;cyclin-I APPROVED protein-coding ENSG00000118816 1595 16690 REVIEWED 1352503 CCNM cyclin M 9613 1598 1606241 CCNJL cyclin J-like 5 5 5 q33.3 155711187 155772085 - 159611249 159672151 - 159678671 159739573 - 6480464 14702039;12477932 79616 B4DFA1;B4DZA8;E5RFJ6;E7EN43;Q8IV13 ABBA01044221;ABBA01044222;AC112191;AK024228;AK131381;AK294000;AK302823;AMYH01015760;BC013353;BC035871;CH471062;NM_024565 AAH13353;AAH35871;BAB14856;BAD18532;BAG57362;BAG64020;EAW61562;NP_078841;Q8IV13 Hs.14070 1649122;1680533;1699790 A004D48;RH103502;RH70819 FLJ14166 OTTHUMP00000160842;OTTHUMP00000224225;cyclin-J-like protein protein-coding ENSG00000135083 25876 07853 VALIDATED 69470 CCNH cyclin H The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK7 kinase and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. They participate in two different transcriptional regulation processes, suggesting an important link between basal transcription control and the cell cycle machinery. A pseudogene of this gene is found on chromosome 4. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Nov 2010] 5 5 q13.3-q14 86725838 86744592 - 86690079 86708850 - 1580863;6480464;6907045 17353931;9405375;10583946;8692841;8946909;8692842;1939271;2449431;7629134;7799941;9512541;9582279;9790902;10214908;11313499;12393749;12646563;16782892;7936635;19116388;18854777;18708406;18676680;18614043;18400256;17728339;17707548;17684142;17628022;17575242;17081983;16935935;16492920;16189514;15695176;15489334;15328539;15220921;14702039;14569024;12527756;12477932;12379213;12140753;12049628;11239393;11113176;11062157;11056214;10993082;10973491;10866664;10734072;10639311;10438593;10082552;10066804;10024882;9840937;9765201;9651670;9570510;9465303;9464540;9334327;9311822;9243502;9184228;9130708;9121429;9118957;9118947;9056480;9054383;8934526;8849451;8836101;8628270;8617234;8521818;8302582;8078587;8069918;8001136;7533895;11062469;10958691;17643375;18508765;18950027;19074885;19170196;19270000;19536092;19625176;19692168;19789190;20522537;8521393;9852112;20598140;15342556;16344560;8889548;11673469;14627702;9840943;22939629;11259578;10393546;8647086;9218599;15282296;15698475;11113184;11713533;15530371;21988832;23377640 902 D6RG18;D6RHI7;P51946 AB209342;ABBA01062123;AC018754;AF477979;AI761780;AK094534;AK291720;AMYH01015469;BC005280;BC016705;BC016823;BC022351;BF510957;BG718714;BP244381;BX537673;CB240639;CH471084;CR407658;DA079651;NM_001199189;NM_001239;U11791;U12685 AAA21361;AAA57006;AAH05280;AAH16705;AAH16823;AAH22351;AAL74271;ABM83476;ABM86687;BAD92579;BAF84409;CAG28586;EAW95934;EAW95935;NP_001186118;NP_001230;P51946 Hs.292524 1669317;1788054;1788056;1850963;2176995;5017162 G67291;G67292;RH17996;RH69527;SGC30189;STS-M23379 CAK;p34;p37 CAK complex subunit;CDK-activating kinase complex subunit;MO15-associated protein;OTTHUMP00000147619;OTTHUMP00000222395;OTTHUMP00000222396;cyclin-H;cyclin-dependent kinase-activating kinase complex subunit APPROVED protein-coding ENSG00000134480 1594 09059 601953 REVIEWED 4889025 CCNT2P1 cyclin T2 pseudogene 1 1 1 109797332 109805158 - 111550315 111558141 - 100418763 ABBA01068395;AL360270;AMYH01000945;NG_026970 pseudo 39178 INFERRED 1322457 CCNT1 cyclin T1 This gene encodes a member of the highly conserved cyclin C subfamily. The encoded protein tightly associates with cyclin-dependent kinase 9, and is a major subunit of positive transcription elongation factor b (p-TEFb). In humans, there are multiple forms of positive transcription elongation factor b, which may include one of several different cyclins along with cyclin-dependent kinase 9. The complex containing the encoded cyclin and cyclin-dependent kinase 9 acts as a cofactor of human immunodeficiency virus type 1 (HIV-1) Tat protein, and is both necessary and sufficient for full activation of viral transcription. This cyclin and its kinase partner are also involved in triggering transcript elongation through phosphorylation of the carboxy-terminal domain of the largest RNA polymerase II subunit. Overexpression of this gene is implicated in tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] 12 12 q13.11 47373019 47397048 - 49082241 49110781 - 1580863;6480464 17700062;20431927;16109376;16980611;16916647;16838299;16764723;16615932;16439541;16362050;16308568;15994294;15940264;15913611;15713661;15563843;15528190;15107825;15049426;14972556;14963154;14627702;14580347;14569024;12944920;12942536;12917420;12894230;12887902;12832472;12753906;12727882;12651893;12588988;12486002;12458222;12368330;12368300;12177005;12115727;12065898;12052871;11809800;11780068;11739744;11739686;11730934;11713533;11713532;11704662;11689688;11689614;11549886;11547919;11545735;11504720;11373315;11282025;11145967;11118314;11112772;11080476;10985245;10983978;10964778;10958691;10944537;10931842;10913173;10903436;10866664;10757782;10671520;10661406;10617616;10574912;10545121;10536359;10467404;10465067;10454543;10438593;10393900;10393184;10384302;11884399;10377393;10364329;10364292;10329126;10329125;10082552;10077579;10066804;10049833;9990016;9872325;9843510;9832504;9811724;9765201;9696809;9651670;9649438;9570510;9557739;9491887;9356449;9334326;9334325;8849451;8676484;17168834;15994812;16146763;16035254;15719065;15638724;15473004;15183343;15139295;14984439;16781761;15498776;15905409;15142377;10656684;12883554;12944466;9499409;7853496;12676794;19297489;19179338;18931076;18780834;18773076;18620576;18566585;18391197;18353948;18205180;18039861;17855633;17724342;17690245;17686863;17540406;17502349;17452463;17352406;17317667;17014716;15546612;22592529;19956800;17148452;17643375;18029348;18200011;19387490;19883659;20210365;16893449;19818711;20714219;16601680;16687403;19454010;20943989;20618343;20854876;11673469;23152527;22094252;20153263;20670891;20081228;20811636;21450947;21555514;21763494;21763496;14702039;22342181;21030982;15169877;15201869;15713662;23455922;23539624;23667531;15328539;22939629;22990118;22205749;20305087;12591939;18781797;21139048;21555454;22483617;12494448;16109377;21729782;22323290;22569018;22591364;22771113;23110726;23251033;23274668;23296566;23471103;23569210;11455589;17267505;17289077;17341462;17461970;17537237;17625008;17661632;17907378;18187620;18281698;18483487;18655042;18976462;18991615;19020832;19139066;19223581;19275586;19275730;19435492;19716452;19812265;20018238;20054825;20064163;20227660;20385237;20385240;20471948;19211771;20471949;20535204;20551309;20562857;20571604;20683478;20724442;20808803;20828615;20976203;21035463;21204735;21360054;21709748;21951552;22100159;22190034;22211660;22229121;22253435;22355797;22421880;22422068;22567366;22692005;22959624;23064645 904 A8K4M5;A9XU13;O60563 ABBA01031482;AC079951;AF045161;AF048730;AF255307;AK002085;AK290990;AL832083;AMYH01004434;AMYH01004435;BX098766;BX537514;BX537516;CH471111;EF688064;HY016640;NM_001240;NM_001277842 AAC39638;AAC39664;AAF72184;AAI56507;AAI72543;ABV58572;BAF83679;EAW57998;NP_001231;NP_001264771;O60563 Hs.92308 1700782;1779542;1792086;1792562;1797356;2116613;2137306;2149412;2163647;2186130;5017603 CCNT1;CCNT1_2415;PMC136632P1;PMC153984P1;RH104016;RH17417;RH44408;RH70421;SHGC-153516;SHGC-33565;STS-H84164 CCNT;CYCT1;DKFZp313A1331;DKFZp313N0919;DKFZp313O1211;FLJ11223;HIVE1 CDK9-associated C-type protein;Human immunodeficiency virus-1 expression;OTTHUMP00000243665;OTTHUMP00000243666;cyclin C-related protein;cyclin T1b;cyclin-T;cyclin-T1;human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1;subunit of positive elongation transcription factor b APPROVED protein-coding ENSG00000129315 1599 03938 143055 REVIEWED 1346890 CCNO cyclin O This gene, which has a previous symbol of UNG2, was erroneously identified as a uracil DNA glycosylase in PubMed ID: 2001396. A later publication, PubMed ID: 8419333, identified this gene's product as a cyclin protein family member. The UNG2 term is also used as a specific protein isoform name for the UNG gene (GeneID 7374), so confusion exists in the scientific literature and in some databases for these two genes.[provided by RefSeq, Nov 2010] 5 5 5 q11.2 51479778 51482306 - 54562737 54565265 - 54526980 54529508 - 1580863;6480464 12161446;15489334;15372022;14702039;12477932;8419333;2001396;12171929;10393198;11081631;20870715;21399697;20360068;21226479;18654987;22292079 10309 P22674 ABBA01015739;AC026704;AC091977;AK026075;AMYH01015089;BC004877;BC017345;BC056254;BC143905;BX096363;CH471123;M87499;NM_021147;X52486 AAB05817;AAH04877;AAI60041;BAB15351;CAA36728;EAW54912;EAW54913;NP_066970;P22674 Hs.3041 1669667;1681654;5493385 RH80859;STS-X52486;UniSTS:485916 CCNU;FLJ22422;UDG2;UNG2 OTTHUMP00000222377;cyclin U;cyclin domain containing;cyclin-O;cyclin-like uracil-DNA glycosylase;uracil-DNA glycosylase 2 APPROVED protein-coding ENSG00000152669 18576 06375 607752 VALIDATED 1319329 CCNL2 cyclin L2 The protein encoded by this gene belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 1 1 1 p36.33 1246539 1260165 + 1310954 1324553 - 1321091 1334718 - 1580863;6480464 18216018;17494991;17081983;16710414;15489334;14702039;14684736;14623875;12477932;8838426;8125298;16344560;21555454;23455922 81669 C9J148;F2Z3J5;J3KRL1;J3QSH2;Q8N3D5 ABBA01016037;ABBA01016038;AC026283;AF087903;AF251294;AK000685;AK026796;AK027770;AK056120;AK057133;AK074112;AK225758;AK292268;AK293451;AL139287;AL391244;AL834432;AL834441;AMYH01000132;AX880620;AY037150;AY116620;BC016333;BC071622;BM153748;CH471183;CR628411;DA360436;NG_029782;NM_001039577;NM_030937 AAG44594;AAH16333;AAH71622;AAK67631;AAM76789;AAP97201;BAB84938;BAF84957;BAG51376;BAG51870;BAG56949;CAD39092;CAD39101;CAE91020;EAW56211;EAW56212;EAW56213;EAW56214;EAW56215;EAW56216;EAW56217;NP_001034666;NP_112199;Q96S94 Hs.515704 1644989;1795492;1848342;2154269;2167544 CCNL2_1347;G31515;SHGC-74123;SHGC-74124;SHGC-74125 ANIA-6B;CCNM;DKFZp761A1210;DKFZp762O195;HCLA-ISO;HLA-ISO;PCEE;SB138 OTTHUMP00000002948;OTTHUMP00000002949;OTTHUMP00000221204;OTTHUMP00000221205;OTTHUMP00000221207;cyclin M;cyclin-L2;paneth cell-enhanced expression protein APPROVED protein-coding ENSG00000221978 20570 10815 613482 REVIEWED 733406 CCNL1 cyclin L1 3 3 q25.31 158348279 158361176 - 156865585 156878482 - 1580863;6480464 18216018;17494991;16598186;15700036;15489334;15302935;14702039;12975309;12477932;12414649;11980906;11683997;11042152;14623875;16009940;20372150;20721974;21441570;21307140;21586274;21832049;21712988;22073261;22911880;22685556;23202124 57018 C9JPL0;H7C4G1;Q9UK58 ABBA01058836;AC104411;AF180920;AF208843;AF367476;AF367477;AK022974;AK098021;AK122738;AMYH01013601;AY034790;AY358663;BC007081;BC038394;BC067812;BX641146;BX647554;CH471052;HI179062;NM_020307 AAD53184;AAF64257;AAH07081;AAH38394;AAH67812;AAK61551;AAM21204;AAM21205;AAQ89026;ADZ16098;BAG51145;CBX53839;EAW78712;EAW78713;EAW78714;NP_064703;Q9UK58 Hs.4859 1664327;1735114;1788632;1795490;2187353 CCNL1_509;D3S2788E;RH18144;STS-N34441;T03514 ANIA6A;BM-001;PRO1073;ania-6a OTTHUMP00000213318;OTTHUMP00000213319;cyclin L ania-6a;cyclin L gamma;cyclin-L;cyclin-L1 protein-coding 20569 10814 613384 VALIDATED 1346304 CCO central core disease of muscle 7240710 1601 117000;145600;255320 1606616 CCNYL3 cyclin Y-like 3 16 16 16 p11.2 66650397 66703677 + 34115360 34176185 + 34257859 34292628 + 15616553 642326 P0C7X3 AC135776;CH471189;DW009600;XM_003846340 EAW54759;P0C7X3;XP_003846388 Hs.692710 Putative cyclin-Y-like protein 3;cyclin Y-like 3 protein-coding 33206 1317544 CCNK cyclin K The protein encoded by this gene is a member of the transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the large subunit of RNA polymerase II. This gene product may play a dual role in regulating CDK and RNA polymerase II activities. [provided by RefSeq, Jul 2008] 14 14 14 q32 80002624 80032734 + 99017492 99047605 + 99947739 99977852 + 1580863;6480464 16713569;9632813;17169370;17081983;15489334;15302935;12477932;11988847;11884399;10574912;16189514;20459741;16055720;20930849;22939629;22990118;21555514;22623531;19850743;22988298;21890473;21906983;19322201;21963094;22547058 8812 G3V235;G3V2Q3;G3V5E1;O75909 AB209373;ABBA01048558;ABBA01048559;AF542236;AK311075;AL110504;AMYH01005992;AMYH01005993;BC015935;BG503760;BM505592;BQ432222;BT006950;BX247958;CH471061;NM_001099402 AAH15935;AAN06829;AAP35596;ABM84464;ABW03286;BAD92610;CAD62298;EAW81668;EAW81669;EAW81670;EAW81671;EAW81672;NP_001092872;O75909 Hs.510409 1660974;1661577;1797354;1849208;2141700;5093876 A009Y14;CCNK_1614.3;G32976;G35001;RH1621;RH69937 CPR4;MGC9113 OTTHUMP00000246203;OTTHUMP00000246205;cyclin-K APPROVED protein-coding 1596 603544 REVIEWED 1319417 CCNT2 cyclin T2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin and its kinase partner CDK9 were found to be subunits of the transcription elongation factor p-TEFb. The p-TEFb complex containing this cyclin was reported to interact with, and act as a negative regulator of human immunodeficiency virus type 1 (HIV-1) Tat protein. A pseudogene of this gene is found on chromosome 1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010] 2 2 q21.3 135392863 135431057 + 135676392 135716915 + 1580863;6480464 16109376;9499409;18029348;12676794;18391197;17452463;16841087;16331689;15815621;15563843;15302935;12832472;12477932;12037672;11747605;11713533;11282025;10465067;10364329;10329126;10049833;17643375;19883659;20379614;14702039;16344560;20811636;18566585;20854876;19322201 905 B4DH21;C9JUL2;F2Z2C9;F8WDY7;H7BZ27;H7C411;O60583 ABBA01028188;AC016725;AF048731;AF048732;AJ297062;AK023645;AK075041;AK292913;AK294889;AMYH01011117;AMYH01011118;AU157699;AY865621;BC114366;BX648174;CH471058;NG_029189;NM_001241;NM_058241;NR_037649 AAC39665;AAC39666;AAI14367;AAW56073;AAY14998;BAF85602;BAG57982;EAX11644;EAX11645;EAX11646;EAX11647;NP_001232;NP_490595;O60583 Hs.744115 1646842;1650396;1675658;1677428;1688959;1756775;1775430 RH48571;RH65103;RH93172;RH93392;RH99330;SHGC-143906;WI-19949 CYCT2;FLJ13583;FLJ90560;MGC134840 OTTHUMP00000162502;OTTHUMP00000162503;SDS-stable vimentin-bound DNA fragment HEF42VIM22;cycT2;cyclin T2a;cyclin T2b;cyclin-T2;subunit of positive elongation transcription factor b APPROVED protein-coding ENSG00000082258 1600 04839 603862 REVIEWED 1346524 CCNYL2 cyclin Y-like 2 10 10 10 q11.21 38907092 38971132 - 42224950 42290860 - 42905531 42949620 - 12477932 414194 Q5T2Q4;R4GNI7 ABBA01049988;ABBA01049989;AL391099;AMYH01002282;BC039000;NR_103829;XM_003959987;XM_003960469;XM_003960858 Q5T2Q4;XP_003960036;XP_003960518;XP_003960907 Hs.568048 1662472 G17488 C10orf21;bA178A10.2 OTTHUMP00000019474;chromosome 10 open reading frame 21;cyclin Y-like 2;cyclin-Y-like protein 2 pseudo 23495 VALIDATED 1606146 CCNYL1 cyclin Y-like 1 2 2 2 q33.3 202338006 202382779 + 208284509 208327434 + 208576264 208620898 + 6480464 16344560;16341674;15302935;14702039;12477932;16712791;21139048;21890473;21906983;22505724 151195 C9IYB8;H7BZD2;H7C0P7;Q8N7R7 AA731590;ABBA01062688;ABBA01062689;AC096772;AK026922;AK095479;AK097751;AMYH01011449;BC047293;BC067253;BM772734;CB158848;CH471063;CN482952;DA730784;NM_001142300;NM_152523 AAH67253;AAY24056;BAC05160;EAW70420;EAW70421;EAW70422;EAW70423;NP_001135772;NP_689736;Q8N7R7 Hs.471234;Hs.597952 1649470;1851486;2111404;2132864;2163063;2163065 A001T14;D2S1504E;G19622;RH18275;RH45631;RH66675 FLJ40432 OTTHUMP00000163873;OTTHUMP00000206655;OTTHUMP00000206656;cyclin-Y-like protein 1 protein-coding ENSG00000163249 26868 08809 VALIDATED 5130598 CCR12P chemokine (C-C motif) receptor 12, pseudogene 13 13 13 q32.3 80903628 80904892 - 98853731 98862896 - 100060180 100061222 - 100133168 ABBA01027121;AL136961;AMYH01005326;NG_030243 GPR183P1 APPROVED pseudo 39812 INFERRED 1347341 CCNY cyclin Y Cyclins, such as CCNY, control cell division cycles and regulate cyclin-dependent kinases (e.g., CDC2; MIM 116940) (Li et al., 2009 [PubMed 18060517]).[supplied by OMIM, May 2009] 10 10 p11.21 35575959 35899164 + 35535953 35860848 + 6480464 11256614;19422935;19204726;19174780;19068216;18984674;18438405;18060517;17081983;15489334;15324660;15302935;15164054;14702039;12477932;8889548;21102463;20886065;16385451;19524571;20176734;20441050;21273179;21297633;22895054;21139048;22184064;19322201 219771 B7Z8E4;Q8TEX3;R4GN48;R4GNF3 ABBA01033334;ABBA01033335;ABBA01033336;ABBA01033337;ABBA01033338;ABBA01033339;ABBA01033340;ABBA01033341;ABBA01033342;ABBA01033343;AF413522;AF429969;AF465728;AF465729;AK024813;AK057280;AK303283;AK314666;AL117336;AL121749;AL592445;AL603824;AL834355;AMYH01002236;AMYH01002237;AMYH01002238;AMYH01002239;AMYH01002240;AY504868;BC015778;BC050310;BC069224;BC094815;BC104773;BC104801;BC143450;BC143455;BQ014589;BU159499;BU675909;CH471072;NM_145012;NM_181698 AAH69224;AAH94815;AAI04774;AAI04802;AAI43451;AAI43456;AAL07802;AAL78998;AAL78999;AAP97301;AAS79427;BAB71409;BAG37223;BAH13930;CAD39020;EAW85912;EAW85913;EAW85914;NP_659449;NP_859049;Q8ND76 Hs.14745;Hs.651463;Hs.714184 1338838;1644562;1647056;1647276;1648836;1671504;1701344;1724549;1736150;1767449;1767451;1789192;1849418;2113936;2123145;2148450;2155854;2165263;2165265;2168289;2171169;2171171;2178448;5094030 A006D26;A006E35;A010B05;AB071127;D10S1163;D10S1247;D10S1402E;D10S1868;D10S2357;G20724;G20748;G33065;G65595;HSC1TD072;RH104302;RH122534;RH15706;RH47247;RH48798;RH70372;SGC30806;SHGC-32774;STS-H67136;STS-T95622 C10orf9;CBCP1;CCNX;CFP1;FLJ95513 OTTHUMP00000019452;OTTHUMP00000019453;chromosome 10 open reading frame 9;cyc-Y;cyclin box protein 1;cyclin fold protein 1;cyclin-X;cyclin-Y;cyclin-box carrying protein 1 APPROVED protein-coding ENSG00000108100 23354 10700 612786 VALIDATED 1349625 CCR1 chemokine (C-C motif) receptor 1 This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. [provided by RefSeq, Jul 2008] 3 3 p21 46218204 46224836 - 46243200 46249832 - 1580863;2307162;5688144;5688145;5688141;5688158;5688138;5688146;5688161;5688140;5688143;5688142;5688163;5688164;1582346;5688165;5688166;5688170;5688173;5688152;5688150;5688157;5688167;5688177;5688168;5688154;5688155;5508477;5688178;5688159;5688172;5688151;5688176;5688175;6480464;7241817 16399111;18608173;18396336;20410256;15654816;21332278;18158733;15368307;20500551;19280268;20053385;15254170;15153561;14674010;14655765;14595653;12860725;11687534;17234893;18088392;15716328;14512166;17641205;12874303;16493073;15951834;12742282;17016504;15593301;11875005;17312463;18844696;20870892;22916017 15001559;15474493;7505609;10910894;10734056;7683036;19017998;18972130;18559339;18311140;18178867;17914560;17464174;17389578;17336272;17298994;17192849;17135764;16969502;16837468;16323127;16226254;16182378;15950672;15927850;15548526;15489334;15337751;15265234;15103513;15039444;14637022;14530297;12794150;12763925;12651617;12477932;12270118;12085329;12070001;11920567;11832479;11470772;11449371;11116158;11110672;11085751;10770925;10702689;10660125;10583963;10202040;10094132;9886417;9558365;9346309;9289016;9143512;9115216;8631787;8626727;8530354;8011297;7679328;7594543;7545673;15053339;11804551;20429924;19913121;20628086;20634891;17558413;18240029;19423540;19553544;19603542;19664396;19687291;19693089;20015385;20056178;20086017;20154287;20190752;20406964;20438785;18577758;2834384;20802378;21148810;16621978;23125416;8699119;18587271;10706735;15764707;21942940;22007486;22104149;22829007;23233369;22650026;22727097;20921899;22842622;23291587 1230 P32246;Q5U003 ABBA01024719;AC104439;AI089760;AMYH01013130;BC051306;BC064991;BT019908;BT019909;BX337412;CH471055;CK903574;D10925;L09230;L10918;NM_001295 AAA36543;AAA58408;AAH51306;AAH64991;AAV38711;AAV38712;ACE86468;ACE87149;BAA01723;EAW64756;EAW64757;NP_001286;P32246 Hs.301921 1717043;1791408;1792074;1795494;2113058;2147049;2153985;2176523;5022828;5122239 CCR1_513;CCR1_mf;D3S3069;D3S3937;D3S4499;G15924;PMC109444P1;PMC135988P5;RH124084;STS-D10925 CD191;CKR-1;CKR1;CMKBR1;HM145;MIP1aR;SCYAR1 C-C CKR-1;C-C chemokine receptor type 1;CC-CKR-1;CCR-1;LD78 receptor;MIP-1alpha-R;OTTHUMP00000164655;RANTES receptor;RANTES-R;macrophage inflammatory protein 1-alpha receptor APPROVED protein-coding ENSG00000163823 1602 03101 601159 REVIEWED 1322623 CCPG1 cell cycle progression 1 15 15 15 q21.1 32536010 32589146 - 53434730 53487866 - 55647421 55700708 - 6480464 17092945;14702039;12477932;10574462;9383053;21145461;16344560;21906983 9236 H3BN32;H3BNE2;H3BPP4;H3BQN1;H3BR24;H3BTZ1;H3BV63;Q9HA17 AA740595;AB033080;ABBA01039025;ABBA01039026;ABBA01039027;AC013355;AC018926;AF011794;AF212228;AK022459;AK292795;AL705964;AMYH01006666;BC015203;BC027621;BC029398;BC034914;BC039871;BC042826;CH471082;DA670725;DA720583;DB084778;NM_001204450;NM_001204451;NM_004748;NM_020739 AAB69314;AAH15203;AAH29398;AAH34914;AAH39871;AAK14914;ADZ15580;BAA86568;BAB14042;BAF85484;EAW77481;EAW77482;EAW77483;EAW77484;EAW77485;EAW77486;NP_001191379;NP_001191380;NP_004739;NP_065790;Q9ULG6 Hs.285051 1649118;1666777;1668480;1669913;1736492;1795616;2125874;2127347;2173010;2184087;5037552 CPR8_1467;D15S1310;D15S700E;D8S2279;RH65629;RH78638;SHGC-53386;STS-AA001419;WI-16128;WI-18393;WI-19318 CPR8;FLJ60574;KIAA1254 cell cycle progression 8 protein;cell cycle progression protein 1;cell cycle progression restoration protein 8 protein-coding ENSG00000260916 24227 09895 611326 VALIDATED 1605415 CCP110 centriolar coiled coil protein 110kDa 16 16 p12.3 19442709 19472231 + 19535179 19564730 + 6480464 21620453;21145461;22261722;17719545;16275750;18694559;17765674;16964243;16760425;16368877;16344560;15489334;15342556;14654843;12477932;12361598;10493829;9455477;11076968;12221128;12852856;16244668;16462731;17681131;19460342;19481458;7790358;20596027;21982113;19322201;22684256;21139048;22441691;23486064;22505724 9738 B4DTZ1;H3BMS1;H3BVH3;I3L262;O43303 AB007879;ABBA01028263;ABBA01028264;AC003108;AC012621;AK300426;AK309196;AMYH01007323;BC030223;BC034140;BC036654;BP360952;BY798911;CB066937;CH471186;CR749255;DA370828;DB504255;NM_001199022;NM_014711 AAC05804;AAH36654;ABM82192;ABM85380;BAA24849;BAG62153;CAH18111;EAW50287;EAW50288;NP_001185951;NP_055526;O43303 Hs.279912 2108739;2153224 CP110_8986;SHGC-60794 CP110;Cep110;DKFZp781G1416;KIAA0419 OTTHUMP00000162162;OTTHUMP00000162163;centriolar coiled-coil protein of 110 kDa;centrosomal protein CP110;centrosomal protein of 110 kDa APPROVED protein-coding ENSG00000103540 24342 10848 609544 VALIDATED 1606584 CCR10 chemokine (C-C motif) receptor 10 Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC, based on the arrangement of the first 2 of the 4 conserved cysteine residues; the 2 cysteines are separated by a single amino acid in CXC chemokines and are adjacent in CC chemokines. CCR10 is the receptor for CCL27 (SCYA27; MIM 604833); CCR10-CCL27 interactions are involved in T cell-mediated skin inflammation (Homey et al., 2002 [PubMed 11821900]).[supplied by OMIM, Mar 2008] 17 17 q21.1-q21.3 38084946 38087371 - 40831420 40833845 - 6480464 14667819;7851889;17071491;16785557;16675558;16460738;15700309;15489334;12477932;11821900;11298490;10975800;10781587;10725697;10725696;10706668;9364936;8889548;22526457;17474147;18240029;18782672;20237496;18577758;20947433;21075690;21937703;22350183;22944692 2826 K7EPC9;K7ER70;P46092 ABBA01006414;AC100793;AF208237;AF215981;AMYH01008398;AY429103;BC098132;BC098157;BC098304;BC099840;BM930170;CA423133;CH471152;NM_016602;U13667 AAA64593;AAF63709;AAF72871;AAH98132;AAH98157;AAH98304;AAH99840;AAR07898;ACE87769;ACT64432;EAW60866;NP_057686;P46092 Hs.744542 1792062 PMC135988P12 GPR2 C-C CKR-10;C-C chemokine receptor type 10;CC chemokine receptor 10;CC-CKR-10;CCR-10;G protein-coupled receptor 2;G-protein coupled receptor 2;OTTHUMP00000163143 APPROVED protein-coding 4474 02586 600240 VALIDATED 1603716 CCR2 chemokine (C-C motif) receptor 2 This gene encodes two isoforms of a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The receptors encoded by this gene mediate agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This gene is located in the chemokine receptor gene cluster region. Two alternatively spliced transcript variants are expressed by the gene. [provided by RefSeq, Mar 2009] 3 3 p21.31 46370364 46377432 + 46395235 46402413 + 2313557;2313561;2313563;2313564;2313558;2307043;2313562;4891443;4145124;4145109;4144893;4144896;4144897;734715;4144894;4145065;4144888;4144903;4145002;4145106;4145110;4145126;4144898;4145111;4145068;632391;4144890;4145064;6480464 18096169;16631114;11756347;10400139;17631861;18419759;12770795;20042590;11518728;17982926;16320322;20152938;19733456;11438742;20543668;15743780;18338959;18187693;17222215;19159432;17298432;10438957;18513341;17135764;14615370;9655467;18095591;16095529 17465499;17464174;17428349;17426779;17417600;17413295;17395051;17364026;17361671;17355643;17295203;17240189;17216598;17094383;17091019;17060059;16950632;16908772;16903979;16865553;16858645;16781696;16733654;16641997;16598837;16529059;16524739;16485782;16480760;16478397;16461193;16426243;16415174;16356504;16344560;16323127;16320328;16314800;16305685;16286055;16286054;16261210;16207551;16206074;16196460;16140745;16123688;16055130;16033640;15980693;15976001;15929697;15863470;15793370;15769362;15754978;15750046;15721423;15639953;15611878;15602133;15585333;15995708;9670957;10201901;10623817;9548499;10751368;8995400;8146186;19559392;19535619;19520154;19506371;19479237;19465829;19433914;19420105;19263529;19258923;19225544;19196047;19131662;19124913;19098363;19082218;19064579;19055601;19037908;19032065;19028820;19017998;19002595;18996288;18977759;18974840;18936436;18928397;18855658;18846510;18845960;18829011;18763111;18676680;18633131;18615095;18391751;18332000;18306985;18197127;18186797;18172114;18164016;18093816;18060801;18055544;17989610;17934338;17917677;17845302;17786209;17715128;17704101;17703412;17703277;17688234;17672867;17664883;17653321;17615573;17604544;17596666;17560067;17504503;17499741;17482150;15579296;15575507;15489334;15488313;15472820;15466648;15465089;15458467;15362666;15319853;15257681;15236615;15230854;15192276;15140377;15135805;15086398;15086346;15076247;14981141;14742283;14647058;14644039;14624371;14533983;14533004;13678532;12913933;12889997;12884524;12882757;12853745;12853162;12837756;12719858;12680626;12654703;12651900;12584049;12571520;12557141;12556692;12477932;12469616;12447757;12445801;12436194;12426226;12403355;12399623;12374865;12239249;12215924;12201365;12192431;12149192;12082592;12079277;12078856;12070001;12032878;12010355;12001056;11988632;11964548;11958683;11898620;11873083;11860823;11860793;11856781;11782014;11779135;11752157;11729511;11709782;11696224;11694103;11596075;11590385;11500196;11485615;11477473;11470772;11468722;11385319;11377705;11350939;11264152;11181995;11175286;11120855;11046064;11023492;10985245;10888629;10741397;10529171;10479649;9886417;9789057;9710230;9662369;9501202;9287323;9252328;9225989;9195948;9143512;9115216;9058802;8884276;8530354;8048929;16831471;15992849;15053339;11804551;21396623;21429204;11115360;10877489;10486323;9736741;9653051;22615942;16621978;21148810;20485444;20536507;20603037;20628649;20637631;20673868;20726788;20740585;21097527;20681057;20808917;2834384;18577758;17558413;18240029;19170196;19527467;19578796;19625176;19643177;19669591;19692168;19693089;19720836;19841162;19904283;19942750;19950235;19958843;19965779;20017911;20038229;20066125;20153665;20181074;20182805;20190752;20220260;20231199;20339010;20364004;20411675;20442634;20449800;20452482;20483750;20503287;20531015;20537184;20947712;21054877;21146687;21220372;21264360;21091093;12271471;20605053;20842059;19411748;21097672;22815949;23041556;21348591;22752804;21440726;21322034;21461583;21570337;22197827;22927430;23374597;21602126;21450101;22218121;18587271;21883707;22159219;21527853;21868018;21890375;22183310;21667221;22041342;21682549;22081934;22276574;22479344;22285384;22612293;22026334;23057571;22607625;23325742;22226505;23090289;23185481;23185512;23298254;23408426;23251661;23612252;23007133;19526283;19917610;20380698;22086059;22685564;22842622;22554651 729230 E9PH76;P41597 ABBA01024718;AC098613;AC138069;AF545480;AK292685;AK292920;AMYH01013130;AV715904;AX705062;BC074751;BC095540;BC126452;BC136396;BQ027284;BX101672;CH471055;D29984;DA927445;DC401093;DC418358;NG_021428;NM_001123041;NM_001123396;U03882;U03905;U80924;U95626;X95583 AAA19119;AAA19120;AAB57791;AAB57792;AAC51636;AAC51637;AAH74751;AAH95540;AAI26453;AAI36397;AAN16400;ADR82956;BAA06253;BAF85374;BAF85609;CAA64835;CAD88094;EAW64760;EAW64761;EAW64762;NP_001116513;NP_001116868;P41597 Hs.511794;Hs.705362 1705790;1793518;2113060;2136631;2141859;2156502 D3S4500;PMC228408P2;SHGC-76910;SHGC-76923;SHGC-78976;WI-9314 CC-CKR-2;CCR-2;CCR2A;CCR2B;CD192;CKR2;CKR2A;CKR2B;CMKBR2;FLJ78302;MCP-1-R;MGC103828;MGC111760;MGC168006 C-C CKR-2;C-C chemokine receptor type 2;CCR-2;MCP-1 receptor;OTTHUMP00000209947;OTTHUMP00000209948;OTTHUMP00000209949;monocyte chemoattractant protein 1 receptor;monocyte chemotactic protein 1 receptor APPROVED protein-coding ENSG00000121807 1603 601267 REVIEWED 1345616 CCR3 chemokine (C-C motif) receptor 3 The protein encoded by this gene is a receptor for C-C type chemokines. It belongs to family 1 of the G protein-coupled receptors. This receptor binds and responds to a variety of chemokines, including eotaxin (CCL11), eotaxin-3 (CCL26), MCP-3 (CCL7), MCP-4 (CCL13), and RANTES (CCL5). It is highly expressed in eosinophils and basophils, and is also detected in TH1 and TH2 cells, as well as in airway epithelial cells. This receptor may contribute to the accumulation and activation of eosinophils and other inflammatory cells in the allergic airway. It is also known to be an entry co-receptor for HIV-1. This gene and seven other chemokine receptor genes form a chemokine receptor gene cluster on the chromosomal region 3p21. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2009] 3 3 p21.3 46258692 46283166 + 46283872 46308197 + 1580863;4145618;4145620;4145645;4145642;4145622;4145634;4145633;4145623;4145617;4145454;4145395;4145646;4145643;4145619;1601020;4145638;4145111;4145632;6480464;6892918;6892922;6893445;6893393;4890013;6893388;6893454;6892923;6893390;6893394;6893409;6893428;6893387;6893391;6892916;6483834;6892920;6892921;6893427;6893389;6893392;6892917;6892919;6893426 20134116;19842835;17156343;17983872;19762220;11529927;18699933;19657453;20732990;20696593;16314464;16978084;17158890;20022477;17145927;20220260;17135764;19017998;21844117;19922414;20103664;15379987;18954648;19185001;19525930;19887061;1316818;15034073;12716450;21180278;19787232;16449815;22075493;18492752;21077277;20610836;21621198;18658092;15721839;21945903;21427490;11683586 21660963;10201960;10713092;9302298;19258923;19247692;19218218;19131662;19028820;18974840;18805825;18676680;18636124;18379861;18311140;18244953;17845580;17703412;17672867;17146638;16920975;16174786;16081847;15807893;15607028;15580493;15507393;15489334;15476879;15219825;15086398;14733956;14702039;14647058;14581140;12902471;12884299;12794150;12654630;12477932;12397598;12393570;12218106;12149192;12079287;12023397;11994538;11991282;11920572;11832479;11449371;11396683;11307756;11196669;11149986;11120849;11110785;11085751;11001881;10975800;10900353;10666479;10642580;10527858;10514402;10488147;10415069;10094132;9789057;9765440;9712872;9573273;9419219;9346309;9289016;9252350;9182688;9143512;9024664;9005985;8884276;8676064;8674119;8642344;8631926;8631813;8609214;7622448;7594543;16631222;17041228;16904155;9736741;9636210;15053339;9653051;9359702;16712896;16470129;15992849;15194768;11115360;10877489;10590105;15857508;21406396;20505746;20603037;20647273;20726325;20659406;20734064;20923436;18240029;19170196;19414538;19423540;19542083;19553323;19559392;19625176;19692168;19693089;19714638;19731977;20056178;20144207;20190752;20237496;20306659;20364559;20406964;20438785;20503287;21041734;18577758;21280323;23183094;21917937;23636060;22217447;22702503;22829007;23017229;23251661;23291587;19526283;20380698;20921899;21143381;21735070;22086059;22842622;23566847 1232 P51677;Q8TDP4;Q8TDP5 AB023887;ABBA01024719;AC104439;AF026535;AF224495;AF237381;AF247359;AF247360;AF247361;AF262299;AF262300;AF262301;AF262302;AF262303;AF262304;AMYH01013130;AY221092;BC110297;BC130318;BC130320;CH471055;EF064760;FB584191;NM_001164680;NM_001837;NM_178328;NM_178329;U28694;U49727;U51241 AAB09726;AAB16831;AAB82589;AAC50469;AAI10298;AAI30319;AAI30321;AAK49027;AAL85154;AAL85628;AAL85629;AAL85630;AAL85631;AAL85632;AAO65970;ABK41943;ADR82939;BAA86964;CAR96700;EAW64758;EAW64759;NP_001158152;NP_001828;NP_847898;NP_847899;P51677 Hs.506190 1791404;1791410;1791434;1792076;1792610;1797358;2113062;2185906 CCR3_515;D3S4503;PMC109434P2;PMC109444P2;PMC110312P1;PMC135988P6;PMC155019P3;SHGC-76880 CC-CKR-3;CD193;CKR3;CMKBR3;MGC102841 C-C CKR-3;C-C chemokine receptor type 3;CC chemokine receptor 3;CCR-3;OTTHUMP00000164718;OTTHUMP00000209745;OTTHUMP00000209746;OTTHUMP00000209747;OTTHUMP00000209748;b-chemokine receptor;eosinophil CC chemokine receptor 3;eosinophil eotaxin receptor APPROVED protein-coding ENSG00000183625 1604 03167 601268 REVIEWED 1347259 CCR4 chemokine (C-C motif) receptor 4 The protein encoded by this gene belongs to the G-protein-coupled receptor family . It is a receptor for the CC chemokine - MIP-1, RANTES, TARC and MCP-1. Chemokines are a group of small polypeptide, structurally related molecules that regulate cell trafficking of various types of leukocytes. The chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. [provided by RefSeq, Jul 2008] 3 3 p24 32968070 32971407 + 32993066 32996403 + 1580863;2306304;2306306;2317610;6480464 15993846;12651599;12761880 7642634;19374191;19244125;19239991;19106589;18782672;18071306;17546636;17117949;17071491;15955100;15621800;15569983;15489334;9933589;9743322;9430724;9169480;8884276;8573157;12429730;15857508;15328188;15202833;15187160;14657875;12778466;12485447;12477932;12456591;12406880;12270118;12070001;11861261;11196669;10754297;10466728;10036181;19913121;20628086;18240029;19261691;19423540;19903885;19942450;20164417;20190752;20237293;20237496;20364559;20406964;20438785;20412707;20148806;20334681;18577758;20963786;21443538;21739422;21525208;22490506;23180648;22842622 1233 A0N0Q1;P51679 AB023888;AB023889;AB023890;AB023891;AB023892;ABBA01024915;AC137560;AK292674;AMYH01013066;AY322539;BC069139;BC071751;BC074935;CD639869;CD640816;CH471055;EF064759;NM_005508 AAH69139;AAH71751;AAH74935;AAP84352;ABK41942;BAA86965;BAA86966;BAA86967;BAA86968;BAA86969;BAF85363;EAW64440;EAW64441;NP_005499;P51679 Hs.184926 1657809;1660539;1682223;1792078;1795496;2113064;5020881;5021369;5037552;5492735 CCR4_517;D3S4501;D8S2279;G29868;L17709;L17796;PMC135988P7;RH91673;SHGC-76800;UniSTS:482160 CC-CKR-4;CD194;CKR4;CMKBR4;ChemR13;HGCN:14099;K5-5;MGC88293 C-C CKR-4;C-C chemokine receptor type 4;CCR-4;OTTHUMP00000161317;chemokine (C-C) receptor 4 APPROVED protein-coding 1605 05324 604836 REVIEWED 1343576 CCRL1P1 chemokine (C-C motif) receptor-like 1 pseudogene 6 6 6 q24.1 139883942 139885798 + 139185471 139187490 + 139143844 139145700 + 285737 ABBA01025805;AL121834;AMYH01016704;NG_005663 CCRL1P;dJ509I19.4 APPROVED pseudo 21142 INFERRED 1312592 CCR8 chemokine (C-C motif) receptor 8 This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are important for the migration of various cell types into the inflammatory sites. This receptor protein preferentially expresses in the thymus. I-309, thymus activation-regulated cytokine (TARC) and macrophage inflammatory protein-1 beta (MIP-1 beta) have been identified as ligands of this receptor. Studies of this receptor and its ligands suggested its role in regulation of monocyte chemotaxis and thymic cell apoptosis. More specifically, this receptor may contribute to the proper positioning of activated T cells within the antigenic challenge sites and specialized areas of lymphoid tissues. This gene is located at the chemokine receptor gene cluster region. [provided by RefSeq, Jul 2008] 3 3 p22 39346219 39351077 + 39371197 39375171 + 1580863;2306304;6480464 15993846 9417093;8816377;10910894;9670926;17693327;17641040;17082609;17023422;15814739;15489334;14576057;12967681;12832759;12645948;12551893;12547701;12525579;12477932;12163566;11007922;10888633;10540332;10469138;9521068;9480837;9469461;9211859;9207005;8977299;8886020;16631222;15992849;15053339;11804551;21976223;17558413;18240029;19074885;19423540;20237496;20406964;20438785;18577758;20455898;23043070;22842622;22479563 1237 C9JIP9;P51685;Q3KNR3 ABBA01024806;AC104850;AF005210;AK314957;AMYH01013099;AY016370;BC069067;BC074743;BC107152;BC107159;CH471055;D49919;NM_005201;U45983;U62556;Y08456;Z79782 AAB05542;AAB61962;AAB62547;AAH69067;AAH74743;AAI07153;AAI07160;AAK08628;BAA23387;BAG37461;CAA69712;CAB02142;EAW64577;NP_005192;P51685 Hs.113222 1791406;1792058;1792608;1795500;2113716 CCR8;CCR8_521;PMC109434P3;PMC135988P10;PMC155019P2 CC-CKR-8;CCR-8;CDw198;CKR-L1;CKRL1;CMKBR8;CMKBRL2;CY6;GPR-CY6;GPRCY6;MGC129966;MGC129973;TER1 C-C CKR-8;C-C chemokine receptor type 8;CC chemokine receptor 8;CC chemokine receptor CHEMR1;CC-CKR-8;CC-chemokine receptor chemr1;CCR-8;GPRCY6;OTTHUMP00000161964;chemokine (C-C) receptor 8;chemokine (C-C) receptor-like 2;chemokine receptor-like 1 APPROVED protein-coding ENSG00000179934 1609 03497 601834 REVIEWED 1347245 CCR7 chemokine (C-C motif) receptor 7 The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as a gene induced by the Epstein-Barr virus (EBV), and is thought to be a mediator of EBV effects on B lymphocytes. This receptor is expressed in various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the migration of memory T cells to inflamed tissues, as well as stimulate dendritic cell maturation. The chemokine (C-C motif) ligand 19 (CCL19/ECL) has been reported to be a specific ligand of this receptor. [provided by RefSeq, Jul 2008] 17 17 q12-q21.2 35963547 35975250 - 38710021 38721736 - 1580863;5130908;5130919;5130918;5130912;6480464 19783686;16394278;20176793;12626344 22334704;8383238;9153236;10741397;19287948;19196101;19136936;19074885;18802075;18696160;18664492;18623114;18544997;18497951;18437055;18319253;18235009;18166500;18065728;17890452;17687340;17587445;17440035;17178876;17032700;17006331;16887149;16857986;16802356;16786131;16690519;16500130;16278415;16278374;16272303;16225771;16223574;16115904;15950936;15867478;15778365;15753377;15743472;15674360;15569314;15489334;15304089;15284247;15265234;15247147;15122702;15073111;15059845;15040017;15034011;14990723;12851649;12799021;12673677;12642342;12486098;12477932;12149218;12070001;12023337;11970971;11929789;11861876;11830455;11507220;11359797;11145663;10861057;10706668;10607681;9743376;9725259;9585422;9507024;8889548;7851893;7488016;15972662;16278001;20439195;21464944;21739671;16344560;18240029;19068542;19423540;19513547;19536265;19536742;19540558;19585516;19731977;19749090;19862774;20029460;20056178;20150960;20237496;20406964;20438785;20651394;21048031;2834384;19615795;20036791;18577758;22821963;20811680;20889506;16494043;22718198;21071608;20889923;17192395;21081040;11242036;12729902;14592837;16249377;16621978;18379575;21165563;21165582;19087620;22251626;22659045;21092675;21624121;21698152;21261017;23449735;21347514;21548969;21731495;22043010;20855251;21735098;21680174;22797918;22990666;22158872;22221265;22619482;21739164;22020953;22634622;21953548;22163030;22350183;22438908;22498742;22533989;23519840;23028633;22923218;17431094;18310327;22842622 1236 A0N0Q0;J3KSS9;J3KTN5;P32248 ABBA01031824;AC004585;AK127810;AK310277;AK312732;AMYH01008384;AY587876;BC035343;BU740631;CH471152;DA814913;EF064758;GN344041;L08176;L31581;L31584;NM_001838;X84702 AAA58615;AAA74230;AAA74231;AAH35343;AAT52232;ABK41941;ABM83040;ABM86234;BAG35603;BAG54575;CAY55956;EAW60669;NP_001829;P32248 Hs.370036 1792082;1794580;2159198;2177619;5095173 CCR7_s4;D17S2011;PMC135988P9;PMC321570P11;RH69039 BLR2;CD197;CDw197;CMKBR7;EBI1 C-C CKR-7;C-C chemokine receptor type 7;CC chemokine receptor 7;CC-CKR-7;CCR-7;EBV-induced G protein-coupled receptor 1;EBV-induced G-protein coupled receptor 1;Epstein-Barr virus induced G-protein coupled receptor;Epstein-Barr virus induced gene 1;MIP-3 beta receptor;OTTHUMP00000164532;chemokine (C-C) receptor 7;epstein-Barr virus-induced G-protein coupled receptor 1;lymphocyte-specific G protein-coupled peptide receptor APPROVED protein-coding ENSG00000126353 1608 02588 600242 REVIEWED 1318406 CCR6 chemokine (C-C motif) receptor 6 This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The gene is preferentially expressed by immature dendritic cells and memory T cells. The ligand of this receptor is macrophage inflammatory protein 3 alpha (MIP-3 alpha). This receptor has been shown to be important for B-lineage maturation and antigen-driven B-cell differentiation, and it may regulate the migration and recruitment of dentritic and T cells during inflammatory and immunological responses. Alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008] 6 6 q27 167445285 167472619 + 167525295 167552629 + 1580863;6480464 8125298;9186513;10521347;11001880;9223454;19492413;19324905;19305396;19249008;19233848;18703490;18587394;18465142;18218038;18097022;17615381;17562763;17171755;17133360;17075975;16641550;16622267;16344560;16215992;16095490;15701269;15591779;15489334;15483227;14574404;12642342;12514792;12477932;12193700;12149255;12081481;12070001;12067311;11994436;11751947;11714836;11164896;9294138;9294137;9169459;9070937;8886020;15972662;20570966;21300824;20439195;20634891;20511548;20459729;18240029;19423540;19539215;19811428;20022113;20023216;20056178;20068036;20194631;20220766;20379614;20406964;20438785;20453841;20453842;20483750;20526339;20526340;18577758;20872189;20720211;2834384;20334681;19760754;21072187;21228329;16621978;22859539;21398606;21624121;22796894;21984702;21261017;21873313;21912453;21937703;21092675;21763254;21949768;21935436;22490506;23599932;22079021;22269120;21724701;22092173;22732549;21102463;22926920;23128233;22842622 1235 P51684;Q53EZ5 ABBA01033434;AK223494;AK293015;AL121935;AMYH01016853;AY242126;BC037960;CD692892;CD707633;CH471051;DA645096;DN996219;NM_004367;NM_031409;U45984;U60000;U68030;U68031;U68032;Z79784 AAB06949;AAB62714;AAC51124;AAC51125;AAD14874;AAH37960;AAO92293;ABM83388;ABM86600;BAD97214;BAF85704;CAB02144;EAW47506;EAW47507;NP_004358;NP_113597;P51684 Hs.46468 1646712;1783888;1792080;1795498;2142027;2155042;5037552 CCR6_1762;D8S2279;PMC135988P8;RH46835;RH70644;SHGC-105352;STS-U68030 BN-1;C-C CKR-6;CC-CKR-6;CCR-6;CD196;CKR-L3;CKR6;CKRL3;CMKBR6;DCR2;DRY-6;DRY6;GPR-CY4;GPR29;GPRCY4;STRL22 C-C CKR-6;C-C chemokine receptor type 6;CC-CKR-6;CCR-6;DRY6;G protein-coupled receptor 29;G-protein coupled receptor 29;LARC receptor;OTTHUMP00000017618;OTTHUMP00000017619;chemokine (C-C) receptor 6;chemokine receptor-like 3;seven-transmembrane receptor, lymphocyte, 22 APPROVED protein-coding ENSG00000112486 1607 03498 601835 REVIEWED 1351344 CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene) This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 p21.31 46386637 46392701 + 46411633 46417697 + 632396;1581175;1581176;1581181;1581182;1580863;1358460;1626290;1626283;1626284;2307064;2307192;2307107;2306302;2317570;2317571;2317567;4889880;4892104;1582346;4890426;4892017;4890425;4890431;4890436;4890446;4892114;4890442;4892066;4892067;4892106;4145106;4892122;4892129;4889986;4892077;4892091;4892099;2325935;4890445;4890447;4890034;1626279;4892065;4145109;4890438;4892108;4892119;4892063;4892070;4892086;4892087;4892088;4892090;4892098;4892103;4892127;4890459;4891446;4144893;4892093;4892101;4145638;4892079;4890448;4892094;4145622;4892085;4892113;4892092;4889989;4890416;6480464;6484113;6907045;7240710 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1234 O14708;Q38L21 AB182984;AB182988;AB182990;ABBA01024718;AC098613;AF009962;AF011500;AF011501;AF011502;AF011503;AF011504;AF011505;AF011506;AF011507;AF011508;AF011509;AF011510;AF011511;AF011512;AF011513;AF011514;AF011515;AF011516;AF011517;AF011518;AF011519;AF011520;AF011521;AF011522;AF011523;AF011524;AF011525;AF011526;AF011527;AF011528;AF011529;AF011530;AF011531;AF011532;AF011533;AF011534;AF011535;AF011536;AF011537;AF031237;AF052244;AF052539;AF056020;AF161909;AF161910;AF161911;AF161912;AF161913;AF161914;AF161915;AF161916;AF161917;AF161918;AF161919;AF161920;AF161921;AK292132;AMYH01013130;AX256200;AX705068;AY221093;AY463213;AY463214;AY463215;AY744141;AY874119;AY874120;AY874121;BC038398;CH471055;DA818906;DQ217934;EF408698;EF408699;EF408700;FB584189;GQ917109;HC295434;JQ291182;JQ291183;JQ291184;JQ291185;JQ291186;JQ291187;JQ291188;JQ291190;JQ291191;JQ291192;JQ291193;JQ291194;JQ291195;JQ291196;JQ291197;JQ291198;JQ291199;JQ291200;JQ291201;JQ291202;JQ291203;JQ291204;JQ291205;JQ291206;JQ291207;JQ291208;JQ291209;JQ291210;JQ291211;JQ291212;JQ291213;JQ291214;JQ291215;JQ291216;JQ291217;JQ291218;JQ291219;JQ291220;JQ291221;JQ291222;JQ291223;JQ291224;NG_012637;NM_000579;NM_001100168;U54994;U57840;U83326;U95626;X91492 AAB17071;AAB57793;AAB65700;AAB65701;AAB65702;AAB65703;AAB65704;AAB65705;AAB65706;AAB65707;AAB65708;AAB65709;AAB65710;AAB65711;AAB65712;AAB65713;AAB65714;AAB65715;AAB65716;AAB65717;AAB65718;AAB65719;AAB65720;AAB65721;AAB65722;AAB65723;AAB65724;AAB65725;AAB65726;AAB65727;AAB65728;AAB65729;AAB65730;AAB65731;AAB65732;AAB65733;AAB65734;AAB65735;AAB65736;AAB65737;AAB94735;AAC23944;AAC50598;AAC51797;AAD18131;AAD47666;AAD47667;AAD47668;AAD47669;AAD47670;AAD47671;AAD47672;AAD47673;AAD47674;AAD47675;AAD47676;AAD47677;AAD47678;AAF65577;AAF65579;AAH38398;AAO65971;AAS19312;AAS19313;AAS19314;AAW62445;AAW82037;AAW82038;AAW82039;ABB01004;ABQ95606;ABQ95607;ABQ95608;ACX50405;AEZ06624;AEZ06625;AEZ06626;AEZ06627;AEZ06628;AEZ06629;AEZ06630;AEZ06632;AEZ06633;AEZ06634;AEZ06635;AEZ06636;AEZ06637;AEZ06638;AEZ06639;AEZ06640;AEZ06641;AEZ06642;AEZ06643;AEZ06644;AEZ06645;AEZ06646;AEZ06647;AEZ06648;AEZ06649;AEZ06650;AEZ06651;AEZ06652;AEZ06653;AEZ06654;AEZ06655;AEZ06656;AEZ06657;AEZ06658;AEZ06659;AEZ06660;AEZ06661;AEZ06662;AEZ06663;AEZ06664;AEZ06665;AEZ06666;BAD83805;BAD83807;BAD83808;BAF84821;CAA62796;CAC94550;CAD88097;CAR96699;CBJ06541;EAW64763;EAW64764;NP_000570;NP_001093638;P51681 Hs.450802 1684280;1795234;2113066;2145264 CCR5_4;D3S4504;RH65248;STS-X91492 CC-CKR-5;CCCKR5;CCR-5;CD195;CKR-5;CKR5;CMKBR5;FLJ78003;IDDM22 C-C CKR-5;C-C chemokine receptor type 5;C-C motif chemokine receptor 5 A159A;CCR-5;HIV-1 fusion coreceptor;OTTHUMP00000209784;chemokine receptor CCR5;chemr13 APPROVED protein-coding ENSG00000160791 1606 03223 601373;609532;610379;612522 REVIEWED 1350851 CCT cataract, congenital, total 7240710 907 1614 225790;302200 1349348 CCRN4L CCR4 carbon catabolite repression 4-like (S. cerevisiae) The protein encoded by this gene is highly similar to Nocturnin, a gene identified as a circadian clock regulated gene in Xenopus laevis. This protein and Nocturnin protein share similarity with the C-terminal domain of a yeast transcription factor, carbon catabolite repression 4 (CCR4). The mRNA abundance of a similar gene in mouse has been shown to exhibit circadian rhythmicity, which suggests a role for this protein in clock function or as a circadian clock effector. [provided by RefSeq, Jul 2008] 4 4 4 q31.1 137269087 137299202 + 140156393 140186543 + 139936943 139967093 + 1580863;6480464 11394964;10521507;18587630;16821125;12477932;19913121;20628086;22547059 25819 Q8WTX0;Q9UK39 ABBA01069940;ABBA01069941;ABBA01069942;ABBA01069943;ABBA01069944;ABBA01069945;AC093602;AF183961;AF199492;AF199493;AF199494;AMYH01014567;AMYH01014568;BC021963;BC023512;BC077723;BC113494;BC113500;CH471056;HY067201;NM_012118 AAD56548;AAG01387;AAG01388;AAG01389;AAH21963;AAH23512;AAH77723;AAI13495;AAI13501;EAX05129;EAX05130;EAX05131;NP_036250;Q9UK39 Hs.639842;Hs.656047 2160497;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;SHGC-67987 CCR4L;MGC142054;MGC142060;MGC4120817;MGC78549;NOC CCR4 protein homolog;CCR4-like (carbon catabolite repression 4, S.cerevisiae);OTTHUMP00000164538;nocturnin APPROVED protein-coding ENSG00000151014 14254 16337 608468 REVIEWED 1352272 CCR9 chemokine (C-C motif) receptor 9 The protein encoded by this gene is a member of the beta chemokine receptor family. It is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are key regulators of the thymocytes migration and maturation in normal and inflammation conditions. The specific ligand of this receptor is CCL25. It has been found that this gene is differentially expressed by T lymphocytes of small intestine and colon, suggested a role in the thymocytes recruitment and development that may permit functional specialization of immune responses in different segment of the gastrointestinal tract. This gene is mapped to the chemokine receptor gene cluster region. Two alternatively spliced transcript variants have been described. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 3 3 p21.3 45903023 45919671 + 45927996 45944667 + 1580863;5130925;6480464 16210593 10544196;10640743;10229797;18245522;18245518;17570212;17205512;15717282;15623660;15489334;14559839;12816994;12477932;11046037;10974041;10702689;10602049;10498628;18240029;19423540;19525985;19756884;20036838;20056178;20081876;20190752;20406964;20438785;18577758;20738854;16344560;2834384;20947433;21075690;21511186;21344163;23326330;21637913;21984373 10803 B2R734;C9JWC0;P51686 ABBA01024720;AC099782;AF145207;AF145439;AF145440;AJ132337;AK312824;AK313366;AMYH01013130;AY242127;BC069678;BC095516;CH471055;DB103756;DB132476;NG_029472;NM_001256369;NM_006641;NM_031200;U45982 AAA93319;AAD38539;AAF66699;AAF66700;AAH69678;AAH95516;AAO92294;BAG35681;BAG36166;CAB43477;EAW64751;EAW64752;NP_001243298;NP_006632;NP_112477;P51686 Hs.225946 1778710;1792060;1795502;2152987;5095175 CCR9_300;CCR9_mf;PMC135988P11;RH70643;STS-U45982 CC-CKR-9;CDw199;GPR-9-6;GPR28 C-C CKR-9;C-C chemokine receptor type 9;CC-CKR-9;CCR-9;G protein-coupled receptor 28;G-protein coupled receptor 28;OTTHUMP00000164653;OTTHUMP00000164654 APPROVED protein-coding ENSG00000173585 1610 09200 604738 REVIEWED 1323460 CCRL2 chemokine (C-C motif) receptor-like 2 This gene encodes a chemokine receptor like protein, which is predicted to be a seven transmembrane protein and most closely related to CCR1. Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. This gene is expressed at high levels in primary neutrophils and primary monocytes, and is further upregulated on neutrophil activation and during monocyte to macrophage differentiation. The function of this gene is unknown. This gene is mapped to the region where the chemokine receptor gene cluster is located. [provided by RefSeq, Jul 2008] 3 3 3 p21 46386028 46388321 + 46423725 46426018 + 46448721 46451014 + 6480464 9473515;18794339;16641997;15489334;15188357;12477932;9143512;20677014;20002784;20056178;20190752;21502085;14530373;22046140;23142225 9034 B2R8C0;C9JP23;O00421 ABBA01024714;ABBA01024715;AC098613;AF015524;AF015525;AJ344142;AK296673;AK313312;AMYH01013130;BC071682;BC096075;BC096076;CH471055;CQ882060;CS115011;CS115013;DC387981;NM_001130910;NM_003965;U95626 AAB57794;AAC34601;AAC34602;AAH71682;AAH96075;AAH96076;ABM83028;ABM86222;BAG36117;BAG59270;CAC82985;CAH60289;CAJ15094;CAJ15095;EAW64765;EAW64766;NP_001124382;NP_003956;O00421 Hs.535713 1795504 CCRL2_302 ACKR5;CKRX;CRAM;CRAM-A;CRAM-B;FLJ55815;HCR;MGC116710;MGC34104 C-C chemokine receptor-like 2;OTTHUMP00000209758;OTTHUMP00000209759;OTTHUMP00000209785;OTTHUMP00000209787;atypical chemokine receptor 5;chemokine receptor CCR11;chemokine receptor X;putative MCP-1 chemokine receptor APPROVED protein-coding ENSG00000121797 1612 16327 608379 REVIEWED 1312172 CCSER2 coiled-coil serine-rich protein 2 10 10 10 q23.1 80084093 80273189 + 86078390 86268256 + 86088410 86278276 + 737633;6480464 12477932 14702039;10574461;8619474;16169070;16385451;20379614;21832049;17043677;20360068;21900206 54462 B4DFY4;Q9H7U1 AB032954;ABBA01003755;AC074321;AF241785;AK024324;AK098675;AK294321;AK298966;AL356115;AMYH01002890;AMYH01002891;AMYH01002892;AMYH01002893;BC020910;BC030528;BU599757;BX640691;CH471142;NM_018999;U90912 AAG44473;AAH30528;BAA86442;BAB14884;BAG57595;BAG61061;CAE45815;EAW80349;EAW80350;EAW80351;EAW80352;NP_061872;Q9H7U1 Hs.461988 1656890;1700270;1736112;1850995;1855584;2162607;5015861;5015961;5022578;5094973;7185938 D10S1384E;D10S16;D10S2175;D15S1477;D1S1423;RH103752;SGC34764;STS-AA010256;TNPO1;WI-20479 FAM190B;FLJ14262;FLJ25809;Gcap14;KIAA1128;bA486O22.1 OTTHUMP00000020001;family with sequence similarity 190, member B;granule cell antiserum positive 14;protein FAM190B;protein GCAP14 homolog;serine-rich coiled-coil domain-containing protein 2 APPROVED protein-coding ENSG00000107771 29197 13832 VALIDATED 3029011 CCT3P1 chaperonin containing TCP1, subunit 3 (gamma) pseudogene 1 8 8 8 p22 15097944 15098544 + 16177578 16178181 + 16133186 16133786 + 20193073 646440 ABBA01021595;AC087360;AMYH01018542;NG_022409 CCT3-1P pseudo 35129 INFERRED 2974874 CCT4P1 chaperonin containing TCP1, subunit 4 (delta) pseudogene 1 7 7 7 q34 135419761 135421615 - 140344209 140346063 - 140697740 140699594 - 12853948;20193073 650172 AACC02000020;ABBA01034091;AC006006;AMYH01017993;CH236950;NG_016595 CCT4-2P pseudo 35151 INFERRED 3539547 CCT4P2 chaperonin containing TCP1, subunit 4 (delta) pseudogene 2 X X X q11.2 64837617 64839726 + 64400286 64409629 + 64490792 64492901 + 20193073 100131638 ABBA01066996;ABBA01066997;AL445523;AMYH01022498;NG_022664 CCT4-1P pseudo 35141 INFERRED 733606 CCS copper chaperone for superoxide dismutase Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct insertion of the Cu cofactor. [provided by RefSeq, Jul 2008] 11 11 q13 66117266 66130066 + 66360690 66373490 + 1580863;1300048;6480464;6907045 9726962;9295278;19227972;19007184;18977241;18552350;18393442;17683925;17601350;16531609;16132821;15736924;15489334;15324660;15265083;12832419;12477932;11991808;11115513;11018045;10790544;10773661;10677207;10221913;9886096;22869735;20154138;21354101;21722094;21139048;20693630;21926972;12968035;22508683 9973 E9PK03;E9PP76;J3KNF4;O14618 ABBA01024071;ABBA01024072;AF002210;AMYH01003735;AP001157;AY113179;BC105016;BC112055;CH471076;CR541928;NG_008733;NM_005125 AAC51764;AAI05017;AAI12056;AAM50090;CAG46726;EAW74549;EAW74550;EAW74551;NP_005116;O14618 Hs.502917 1649371;1769821;1791354;1791356;1791358;1791360;1791362;1791364;2109117 CCS_9025;PMC107843P1;PMC107843P2;PMC107843P3;PMC107843P4;PMC107843P5;PMC107843P6;RH41832;WI-19549 MGC138260 OTTHUMP00000235518;OTTHUMP00000235519;OTTHUMP00000235520;copper chaperone for superoxide dismutase;superoxide dismutase copper chaperone APPROVED protein-coding ENSG00000173992 1613 04841 603864 REVIEWED 1602440 CCSAP centriole, cilia and spindle-associated protein 1 1 1 q42.13 202725069 202747007 - 227523382 227545358 - 229456752 229478688 - 6480464 14702039;12477932;22493317 126731 Q6IQ19 ABBA01009820;AK094615;AK123465;AK291437;AL117350;AMYH01001808;BC015419;BC039241;BC060777;BC071609;CH471098;NM_145257 AAH15419;AAH39241;AAH60777;AAH71609;BAC85619;BAF84126;EAW69897;NP_660300;Q6IQ19 Hs.585011 1652625;1668812;1849922;2129866;2158069 A003A05;G31076;RH64648;SHGC-34833;WIAF-1548 C1orf96;CSAP;FLJ37296;FLJ41471;RP4-803J11.3 OTTHUMP00000035777;centriole and spindle-associated protein;centriole, cilia and spindle-associated protein;hypothetical protein LOC126731;uncharacterized protein C1orf96 APPROVED protein-coding ENSG00000154429 29578 14035 VALIDATED 3161437 CCT5P2 chaperonin containing TCP1, subunit 5 (epsilon) pseudogene 2 13 13 13 q31.1 60383402 60385019 + 78381141 78382490 + 79483065 79484682 + 20193073 390415 ABBA01021684;AL359647;AMYH01005226;NG_016574 CCT5-P1;KIAA0098 pseudo 35139 INFERRED 2837779 CCT5P1 chaperonin containing TCP1, subunit 5 (epsilon) pseudogene 1 5 5 5 q22.3 110797065 110798685 + 114833459 114877293 + 114847774 114849394 + 20193073 402226 ABBA01069032;AC008628;AMYH01015563;NG_016575 CCT5-3P pseudo 35135 INFERRED 1602258 CCSER1 coiled-coil serine-rich protein 1 4 4 4 q22.1 88345830 89813662 + 91375205 91922178 + 91048684 92523370 + 6480464 16344560;14702039;12477932;11214970;20379614;20607790;17043677;22952603;23319000 401145 D6RAM2;D6RAM6;D6RB70;E7EUW0;H0Y9F8;H0YA74;H0YAI2;Q9C0I3 AB051467;ABBA01063572;ABBA01063573;ABBA01063574;ABBA01063575;ABBA01063576;ABBA01063577;ABBA01063578;ABBA01063579;ABBA01063580;ABBA01063581;ABBA01063582;ABBA01063583;ABBA01063584;ABBA01063585;AC004054;AC019188;AC074124;AC079301;AC093729;AC093781;AC093793;AC096897;AC097524;AC098593;AC108038;AC110774;AC110796;AC114787;AK097436;AK310825;AMYH01014389;AMYH01014390;AMYH01014391;AMYH01014392;AMYH01014393;AMYH01014394;BC021681;BC051694;BC073917;CH471057;DB027029;NM_001145065;NM_207491 AAH51694;AAY41009;BAB21771;EAX06039;EAX06040;NP_001138537;NP_997374;Q9C0I3 Hs.654735 1335075;1339337;1339629;1341213;1342064;1644830;1645910;1650120;1659656;1662908;1668568;1677190;1678087;1693834;1705734;1716509;1720737;1723349;1727761;1748539;1750029;1750537;1753227;1763759;1764107;1767577;1769114;1775730;1776044;1791131;1847109;1898922;2121449;2129230;2132235;2133686;2134265;2136166;2137468;2140392;2140549;2141372;2141374;2142188;2153113;2153249;2162838;2164031;2166935;2170223;2174388;2178434;2182111;2220478;7185518;7186703;7187587 1150;AFM284yd1;D4S1089;D4S1107;D4S1209;D4S1323;D4S2661;D4S2671;D4S3006;D4S3245;D4S410;D4S414;D4S423;D4S606;D4S840;D4S989;G01804;G01929;G10351;G33499;G34396;G42602;G59342;G63146;REN20257;RH118491;RH121540;RH47751;RH91868;SHGC-110017;SHGC-111720;SHGC-111846;SHGC-14164;SHGC-147437;SHGC-147758;SHGC-24700;SHGC-24735;SHGC-24782;SHGC-25060;SHGC-30515;SHGC-33181;SHGC-36063;SHGC-50235;SHGC-50631;SHGC-51204;SHGC-51723;SHGC-51765;SHGC-59789;SHGC-67737;SHGC-67797;SHGC-83457;SHGC4-1700;UniSTS:483400;px-16e8 FAM190A;KIAA1680;MGC48628 KIAA1680 protein;OTTHUMP00000219397;OTTHUMP00000219519;OTTHUMP00000219520;family with sequence similarity 190, member A;protein FAM190A;serine-rich coiled-coil domain-containing protein 1 APPROVED protein-coding ENSG00000184305 29349 17561 VALIDATED 1601895 CCT6P1 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1 7 7 7 q11.21 58331511 58342159 + 64853527 64866097 + 65216092 65228662 + 6480464 14702039;12477932;9847074;20193073;19156129 643253 ABBA01008491;ABBA01049022;ABBA01049023;ABBA01049024;ABBA01049025;AC073107;AK092180;AMYH01017482;BC052238;BC073761;BC119782;BC122874;NR_003110 Hs.488399 1725771;2118594;2138914;5022651;5113086 D11S2921;G23512;G62070;GDB:1317576;RH11537 CCT6-5P;CCT6AP1;DKFZp779B0634 pseudo 33094 PROVISIONAL 1345648 CCT4 chaperonin containing TCP1, subunit 4 (delta) The chaperonin containing TCP1 (MIM 186980) complex (CCT), also called the TCP1 ring complex, consists of 2 back-to-back rings, each containing 8 unique but homologous subunits, such as CCT4. CCT assists the folding of newly translated polypeptide substrates through multiple rounds of ATP-driven release and rebinding of partially folded intermediate forms. Substrates of CCT include the cytoskeletal proteins actin (see MIM 102560) and tubulin (see MIM 191130), as well as alpha-transducin (MIM 139330) (Won et al., 1998 [PubMed 9819444]).[supplied by OMIM, Mar 2008] 2 2 p15 61948766 61969295 - 62095262 62115806 - 1580863;6480464 8626763;9819444;17081065;16344560;15815621;15489334;14532270;12665801;12477932;11689615;11580270;10604479;9153422;8661059;7953530;21145461;21319273;15967112;16085932;17643375;18715871;18775504;18782753;20193073;18029348;16497536;16055720;23077236;23184937;23383273;16335966;22863883;22939629;16196087;17314511;19135240;19156129;16009940;20473970;21628590;15852347;18781797;21081666;21726808;21900206;21942715;22079093;16341674;8889549;21139048;21890473;21906983;22318606;19380743;21853274;22053931;22505724 10575 B7Z2F4;B7Z9L0;P50991 AA136129;ABBA01075372;ABBA01075373;AC107081;AF026291;AI439570;AK129860;AK290538;AK294665;AK295330;AK303082;AK307856;AK308942;AK312586;AK315975;AL555753;AMYH01010388;AU128145;BC014676;BC106933;BC106934;BM765256;CD369623;CH471053;DB461009;NM_001256721;NM_006430;U38846 AAC50384;AAC96010;AAH14676;AAI06934;AAI06935;AAY24140;ABZ92292;BAF83227;BAG35480;BAH11840;BAH12034;BAH13897;BAH14346;EAW99984;EAW99985;EAW99986;EAW99987;NP_001243650;NP_006421;P50991 Hs.421509 1672703;1731873;1774170;2126213;2128997;2172542;5093932;5095825;7186785 A009Z10;D2S412E;G33008;RH11918;RH66235;RH68840;SHGC-195;WI-16954 CCT-DELTA;Cctd;MGC126164;MGC126165;SRB OTTHUMP00000201357;T-complex protein 1 subunit delta;TCP-1-delta;chaperonin containing t-complex polypeptide 1, delta subunit;stimulator of TAR RNA-binding APPROVED protein-coding ENSG00000115484 1617 05506 605142 VALIDATED 2837780 CCT6P2 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 2 5 5 5 p15.2 14663527 14665122 - 14692532 14694127 - 14639532 14641127 - 20193073 391739 ABBA01020638;AC010627;AMYH01014921;NG_016581 CCT6-1P pseudo 35150 INFERRED 1342982 CCT3 chaperonin containing TCP1, subunit 3 (gamma) The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants have been characterized for this gene. In addition, a pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Aug 2010] 1 1 q23 154545376 154574819 - 156278752 156308206 - 1580863;6480464 8573069;8001976;18029348;19165527;16710414;15489334;12586295;18654987;22399500;12477932;10635329;8110840;7953530;18782753;16085932;12620389;18715871;16169070;14499622;16189514;20634891;15383276;17643375;18775504;20193073;16497536;20562859;20936779;11865071;14532270;22939629;23383273;20516061;22863883;23022380;16196087;17314511;19135240;19156129;19167051;22586326;22589738;17623298;18781797;19596686;20639865;21081666;21139048;21572988;21890473;21906983;21942715;21987572;22079093;22145905;16009940;19193609;21628590;21145461;21319273;19380743;22268729;22505724 7203 B3KX11;B4DUR8;E9PM09;E9PQ35;E9PRC8;E9PRM9;E9PRN0;P49368;Q59H77;Q5SZW8;Q5SZX6;Q5SZX9 AB208882;ABBA01016662;ABBA01016663;ABBA01016664;AK126400;AK293477;AK300765;AK308023;AK315923;AK316387;AL518070;AL589685;AL833197;AMYH01001437;AY524046;BC006501;BC008019;BG476176;BG746513;CH471121;NM_001008800;NM_005998;NR_036564;NR_036565;U17104;X74801 AAC50068;AAH06501;AAH08019;AAS94255;ABM83940;ABM87258;BAD92119;BAG54323;BAG56968;BAG62430;BAH14294;BAH14758;CAA52808;CAI46192;EAW52967;NP_001008800;NP_005989;P49368 Hs.491494 1657614;1781476;2107917;2167144 CCT3_8687;D1S3443;RH70900;SHGC-132091 CCT-gamma;CCTG;PIG48;TCP-1-gamma;TRIC5 OTTHUMP00000025735;OTTHUMP00000025736;OTTHUMP00000231494;OTTHUMP00000231497;T-complex protein 1 subunit gamma;T-complex protein 1, gamma subunit;TCP1 (t-complex-1) ring complex, polypeptide 5;hTRiC5 APPROVED protein-coding ENSG00000163468 1616 08969 600114 REVIEWED 1352326 CCT2 chaperonin containing TCP1, subunit 2 (beta) The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 12 12 q15 68265475 68281624 + 69979208 69995357 + 1580863;6480464 11532003;18029348;19332537;18391951;16236267;15635413;15489334;15324660;14532270;12665801;12477932;11580269;10748209;10404219;9819444;7953530;18782753;21145461;21319273;16085932;18715871;16712791;20573828;17643375;18775504;19851296;20198315;16497536;20562859;16055720;22939629;22863883;16335966;16196087;17314511;19135240;19156129;21110914;16009940;21628590;18781797;20639865;21081666;21572988;21726808;21942715;21987572;22079093;21139048;21890473;21906983;22145905;22354994;22586326;18654987;19738201;21382349;21525035;21963094;22304920;22623428;22810585;23000965;23077236;23184937;23190606;23349634;23383273;23438482;19380743;20697350;22053931;22505724 10576 F5GWF6;F8VQ14;P78371 AA401491;AB451223;AB451346;ABBA01026537;AC018921;AF026166;AF026293;AK290767;AK294307;AK297685;AK302157;AK316397;AK316408;AMYH01004567;BC113514;BC113516;BT019966;CB138063;CH471054;CR457071;NM_001198842;NM_006431;U91327 AAB67249;AAC96012;AAC98906;AAI13515;AAI13517;AAV38769;ADR83037;BAF83456;BAG70037;BAG70160;BAH11729;BAH12649;BAH13640;BAH14768;BAH14779;CAG33352;EAW97228;EAW97229;EAW97230;NP_001185771;NP_006422;P78371 Hs.189772 1674075;1674163;1731869;2122732;2157398;5013962;5127028 D12S384E;MARC_36444-36445:1067884409:1;RH44186;RH48183;RH69725;SHGC-60534;WI-19751 99D8.1;CCT-beta;CCTB;MGC142074;MGC142076;PRO1633;TCP-1-beta OTTHUMP00000240975;OTTHUMP00000240976;OTTHUMP00000240977;OTTHUMP00000240978;T-complex protein 1 subunit beta;T-complex protein 1, beta subunit;chaperonin containing t-complex polypeptide 1, beta subunit;chaperonin containing t-complex polypeptide 1, subunit 2 APPROVED protein-coding ENSG00000166226 1615 06895 605139 REVIEWED 4144711 CCT6P5 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 5 11 11 106662252 106663112 - 109507968 109508828 - 11237011;15496913;16554811;20193073 100463286 ABBA01039846;AMYH01004025;AP003102;NG_023057 CCT6-2P pseudo 38608 INFERRED 3028800 CCT6P4 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 4 3 3 3 q28 188862687 188865356 + 191915294 192010415 + 190432497 190435166 + 20193073 100130481 ABBA01058324;AC079863;AMYH01013758;CH471052;NG_016479 EAW78098 1784668 SHGC-144039 CCT6-4P pseudo 35148 INFERRED 3322380 CCT7P1 chaperonin containing TCP1, subunit 7 (eta) pseudogene 1 6 6 6 q25.1 150935693 150937521 + 150242791 150244401 + 150201030 150202858 + 20193073 442267 ABBA01025669;AL355312;AMYH01016739;NG_013108 5095177 CCT7 CCT7-2P;FLJ13465 pseudo 35149 INFERRED 1312394 CCT6A chaperonin containing TCP1, subunit 6A (zeta 1) The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, several pseudogenes of this gene have been located. [provided by RefSeq, Jun 2010] 7 7 p11.2 56086872 56099176 + 56119378 56131682 + 1580863;6480464 8034610;16236267;16211299;15489334;14532270;12853948;12665801;12477932;11532003;10810232;7953530;1602151;1352881;18782753;18715871;16085932;21145461;21319273;16497536;17643375;18775504;20193073;22863883;23022380;17500595;22939629;16196087;17314511;19135240;19156129;17623298;21081666;21572988;21890473;21139048;21906983;21942715;21963094;21987572;22079093;20473970;21628590;17620599;18729074;19380743;21853274;22053931;22505724 908 B4DPJ8;P40227 AB063318;AB209728;ABBA01061849;AC092101;AC092579;AF385084;AK297751;AK298371;AK313819;AK316230;AM295155;AMYH01017277;AW411253;BC106941;BC106942;BI464886;BU540578;CH471140;L27706;M94083;NM_001009186;NM_001762 AAA58676;AAA61061;AAI06943;AAK61354;AAS07451;BAB61032;BAD92965;BAG36555;BAG60101;BAG60610;BAH14601;CAL26601;EAX07972;EAX07973;EAX07974;NP_001009186;NP_001753;P40227 Hs.82916 1725771;2147282;5106920;5113086 G62070;RH11537;SHGC-32082;WI-19011 CCT-zeta;CCT-zeta-1;CCT6;Cctz;HTR3;MGC126214;MGC126215;MoDP-2;TCP-1-zeta;TCP20;TCPZ;TTCP20 OTTHUMP00000159736;OTTHUMP00000209314;T-complex protein 1 subunit zeta;T-complex protein 1, zeta subunit;acute morphine dependence related protein 2;acute morphine dependence-related protein 2;amino acid transport defect-complementing;chaperonin containing T-complex subunit 6;histidine transport regulator 3 APPROVED protein-coding ENSG00000146731 1620 00089 104613 REVIEWED 2301496 CCT7P2 chaperonin containing TCP1, subunit 7 (eta) pseudogene 2 5 5 5 q14.3 88084667 88086213 - 92249157 92252303 - 92225080 92226626 - 11181995;20193073;21273288 100288772 ABBA01069288;AC008517;AMYH01015482;CH471084;NG_008698 EAW96001 CCT7-1P pseudo 35134 INFERRED 1605860 CCT8L1P chaperonin containing TCP1, subunit 8 (theta)-like 1, pseudogene 7 7 7 q36.1 146699468 146701520 + 151773257 151775287 + 152142302 152144354 + 12853948;20193073 155100 A6NM43 ABBA01035132;AC005631;AMYH01018150;CH471173;NG_012242 A6NM43;EAW53969 CCT8L1 APPROVED pseudo 32153 18738 INFERRED 3539802 CCT8P1 chaperonin containing TCP1, subunit 8 (theta) pseudogene 1 1 1 1 q21.1 122308284 122310144 + 145141322 145144085 - 146674705 146676565 - 11237011;15496913;16710414;20193073 644131 ABBA01004398;AC242426;AL356378;AMYH01001373;NG_016732 1692430;2124809;2169621 AL009757;AL033864;D5S2639 CCT8-1P pseudo 35144 INFERRED 1345429 CCV cataract, congenital, Volkmann type 7240710 7607651 7792 7183686 D1S243 1624 1345746 CCT6B chaperonin containing TCP1, subunit 6B (zeta 2) This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 17 17 17 q12 30165074 30198725 - 30279051 30312619 - 33254878 33288528 - 1580863;6480464 8812458;16415341;15489334;15342556;12477932;9013858;8125298;16344560;18782753;20193073;22990118;22939629;19156129;21572988;21906983;19380743;22505724 10693 J3KRI6;Q92526 ABBA01011220;ABBA01011221;AC022903;AK225728;AK225729;AK301773;AK302344;AMYH01008353;BC026125;BC027591;BI825786;BI826129;BP368876;CH471147;CR933688;D78333;DB024533;DB032371;NM_001193529;NM_001193530;NM_006584 AAH26125;AAH27591;ADZ15468;BAA11347;BAG63232;BAG63672;CAI45976;EAW80201;NP_001180458;NP_001180459;NP_006575;Q92526 Hs.73072 1734410;1797150;1857857;2124214;5107533 D17S1382E;D17S1561;MGC20398;RH71331;SHGC-56716 CCT-zeta-2;CCTZ-2;Cctz2;TCP-1-zeta-2;TSA303 CCT-zeta-like;T-complex protein 1 subunit zeta-2;T-complex protein 1, zeta-2 subunit;TCP-1-zeta-like;testis-specific Tcp20;testis-specific protein TSA303 APPROVED protein-coding ENSG00000132141 1621 09873 610730 REVIEWED 1354396 CCT5 chaperonin containing TCP1, subunit 5 (epsilon) The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. In addition, three pseudogenes of this gene have been identified. [provided by RefSeq, Jun 2010] 5 5 p15.2 10303282 10319501 + 10250282 10266501 + 1580863;6480464;7240710 18029348;18421076;16821082;16399879;16236267;16189514;16169070;15889144;15489334;15231747;14702039;14532270;12530067;12502735;12477932;11580270;11580269;11532003;11358150;11162507;10747865;10393949;9250675;7953530;7788527;7615668;16085932;18782753;18715871;21145461;21319273;16548883;17643375;18775504;19651702;20193073;20468064;16497536;16159877;22939629;20516061;22863883;16196087;17314511;19135240;19156129;19167051;20000738;18781797;20639865;21081666;21726808;21942715;21987572;21139048;21693764;21890473;21906983;21963094;17339318;20473970;21628590;22232265;22586326;19738201;21525035;22304920;22623428;23000965;23349634;23383273;23438482;22956598;23398456;19376773;19380743;22053931;22505724 22948 B4DYD8;B7ZAR1;D6RIZ7;E7ENZ3;E9PCA1;H0Y914;H0Y958;P48643 ABBA01020593;AC012640;AF275798;AJ012489;AK124354;AK289353;AK290393;AK293341;AK293437;AK301760;AK301985;AK302368;AK302383;AK303086;AK303147;AK316376;AMYH01014902;BC002971;BC006543;BC009454;BC035499;BC040027;BU858349;CH471102;D43950;NG_012160;NM_012073 AAG23814;AAH02971;AAH06543;AAH09454;AAH35499;ABM83669;ABM86942;BAA07894;BAF82042;BAF83082;BAG56857;BAG56941;BAG63220;BAG63393;BAG63690;BAG63700;BAG64197;BAG64251;BAH14747;EAX08072;NP_036205;P48643 Hs.1600 1649742;1681448;2133822;2175641;2176903 A002D32;D5S2412;G19980;RH25325;RH48173 CCT-epsilon;CCTE;KIAA0098;TCP-1-epsilon OTTHUMP00000161671;OTTHUMP00000220727;OTTHUMP00000220728;OTTHUMP00000220953;OTTHUMP00000221653;T-complex protein 1 subunit epsilon;T-complex protein 1, epsilon subunit APPROVED protein-coding ENSG00000150753 1618 06468 256840;610150 REVIEWED 2974960 CCT6P3 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3 7 7 7 q11.21 58217665 58250366 + 64162711 64172626 + 64498732 64535091 + 12477932;20193073;9847074 643180 ABBA01027992;ABBA01027993;AC073210;AMYH01017439;AMYH01017440;AMYH01017441;BC071617;BX649060;NR_033416 Hs.510847 1676704;1725771;2118594;2138914;5113086 G23512;G62070;GDB:1317576;RH11537;RH92824 CCT6-3P;DKFZp779B0634 pseudo ENSG00000234585 35137 VALIDATED 1605278 CCT8L2 chaperonin containing TCP1, subunit 8 (theta)-like 2 22 22 22 q11.1 693800 695852 - 15451648 15453700 - 17071648 17073700 - 6480464 15461802;12477932;10585773;20193073 150160 Q96SF2 ABBA01001468;AMYH01012420;AP000365;AP000547;AP003553;BC022006;BC033797;BC100811;BC100812;BC100813;BC139842;CH471193;CR456508;HC006880;NM_014406 AAH33797;AAI00812;AAI00813;AAI00814;AAI39843;AAI39927;ABM83008;ABM86201;ACT64544;ACT64545;BAA84680;BAB43952;CAG30394;CBH19245;EAW57714;NP_055221;Q96SF2 Hs.128342 CESK1;MGC118839;MGC118840 OTTHUMP00000180627;T-complex protein 1;putative T-complex protein 1 subunit theta-like 2 protein-coding ENSG00000198445 15553 16708 VALIDATED 1351383 CCZ1B CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae) 7 7 7 p22.1 5897907 5900900 + 6805097 6832386 - 6838566 6865926 - 737633;6480464 12477932 15489334;14702039;12853948;10810093;15342556;21832049;23022380;21987572;22505724 221960 F5H553;F8WD66;P86790;P86791 ABBA01016110;ABBA01056508;ABBA01056509;ABBA01056510;AC004983;AC079882;AK000993;AK292326;AK296026;AL050215;AMYH01017054;BC010130;BC108302;BP341272;CA413377;NM_198097 AAH10130;AAQ93370;AAQ96868;ADZ15393;BAF85015;BAG58794;CAB43318;NP_932765;P86790 Hs.567779 1684942;1712086;1712114;2147970;2147972 A005Y46;G20608;G54092;G54106;RH80485 C7orf28B;DKFZp586I1023;FLJ60592;H_NH0577018.2;MGC19819 H_DJ1163J12.2;OTTHUMP00000155187;hypothetical protein LOC221960;vacuolar fusion protein CCZ1 homolog B;vacuolar fusion protein CCZ1 homolog-like APPROVED protein-coding 21717 12916 VALIDATED 1322663 CD109 CD109 molecule This gene encodes a member of the alpha2-macroglobulin/complement superfamily. The encoded GPI-linked glycoprotein is found on the cell surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signaling of transforming growth factor beta (TGF-beta). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009] 6 6 q13 74462235 74594761 + 74405508 74538041 + 6480464 21295082;19016750;18519826;17922683;17611685;17493171;16959974;16754747;16344560;16335952;16263699;15826242;15569238;15342556;14980714;14702039;14574404;12799300;11861285;11861284;10972910;8889548;2346781;1984805;20946523;20667040;20035377;19570064;19898481;19948007;20101215;20379614;21539622;21898545;22694813;23251661 135228 Q5XUN1;Q6MZI7 ABBA01040340;AF410459;AF410460;AK095888;AK123960;AK130104;AK313636;AL110152;AL590428;AL591480;AL596449;AL834478;AMYH01016432;AMYH01016433;AY149920;AY374441;AY374442;AY736553;AY736554;AY736555;AY736556;AY736557;AY736558;AY788891;BM722643;BP279681;BP351448;BX107999;BX641095;BX646244;CB529476;CB853216;CH471051;DA720168;DB280225;EF553520;NM_001159587;NM_001159588;NM_133493 AAI48365;AAI52997;AAL84159;AAL84160;AAN78483;AAU94640;AAU94641;AAU94642;AAU94643;AAU94644;AAU94645;AAX14639;ABQ66266;BAC04642;BAG36395;BAG53987;CAD39137;CAE46045;EAW48752;EAW48753;EAW48754;EAW48755;NP_001153059;NP_001153060;NP_598000;Q6YHK3 Hs.399891 1338892;1656180;1687471;1726285;1751435;2109119;5022578;5037552 CD109_2883;D1S1423;D6S406;D8S2279;G62443;RH92600;SHGC-105259;SHGC-3527 CPAMD7;DKFZp762L1111;FLJ38569;FLJ41966;RP11-525G3.1 150 kDa TGF-beta-1-binding protein;C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7;CD109 antigen;Gov platelet alloantigens;OTTHUMP00000016748;activated T-cell marker CD109;p180;platelet-specific Gov antigen;r150 APPROVED protein-coding ENSG00000156535 21685 10590 608859 REVIEWED 1322923 CD101 CD101 molecule 1 1 p13 117345905 117380690 + 117544372 117579167 + 1580863;6480464 9647226;7722300;16344560;15737213;15342556;12477932;11504738;11093127;10692025;9389317;9233604;7722299;16169070;19898481;21159825;21467233 9398 Q93033 ABBA01068497;ABBA01068498;AI791963;AK298237;AK307542;AL445231;AMYH01000972;BC130327;BC136484;BC171768;BP300139;CH471122;DA582363;DA955029;NM_001256106;NM_001256109;NM_001256111;NM_004258;Z33642 AAI30328;AAI36485;AAI71768;BAG60504;CAA83923;EAW56664;EAW56665;NP_001243035;NP_001243038;NP_001243040;NP_004249;Q93033 Hs.654598 1336648;2167320 D1S252;SGC35472 EWI-101;IGSF2;V7 EWI-101;OTTHUMP00000013817;cell surface glycoprotein V7;glu-Trp-Ile EWI motif-containing protein 101;immunoglobulin superfamily member 2;immunoglobulin superfamily, member 2;leukocyte surface protein APPROVED protein-coding ENSG00000134256 5949 05154 604516 VALIDATED 1315027 CCT7 chaperonin containing TCP1, subunit 7 (eta) This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 6. [provided by RefSeq, Oct 2009] 2 2 2 p13.2 73312190 73330978 + 73314913 73333655 + 73461364 73480150 + 1580863;6480464 9819444;16236267;16169070;15815621;15489334;15347653;14532270;12477932;11591653;11532003;9250675;8982604;8125298;21145461;21319273;16085932;18029348;18715871;18775504;18782753;19615732;20193073;16497536;20562859;20877624;16055720;21832049;22863883;22939629;16335966;20516061;23184937;23383273;16196087;19156129;18781797;21081666;21572988;21900206;21942715;21987572;17339318;19193609;20473970;21628590;21139048;21890473;21906983;22145905;19380743;21853274;22053931;22505724 10574 B7Z1C9;F5GZK5;F8WAM2;F8WBP8;Q99832 ABBA01075579;AC010913;AF026292;AI571508;AK098549;AK098825;AK222478;AK291961;AK293175;AK293597;AK297846;AK298153;AK302078;AMYH01010436;BC019296;BC088351;BM558355;BM918058;CH471053;CR456719;CR536511;CX781741;DC362157;DC395264;NM_001009570;NM_001166284;NM_001166285;NM_006429;NR_029402;NR_029403;U83843 AAB41437;AAC96011;AAH19296;AAH88351;AAX88902;ABM84390;ABM87333;BAD96198;BAF84650;BAH11465;BAH11543;BAH12675;BAH12733;BAH13620;CAG33000;CAG38749;EAW99738;EAW99739;EAW99740;NP_001009570;NP_001159756;NP_001159757;NP_006420;Q99832 Hs.368149 1682696;5095177 CCT7;RH41801 CCT-ETA;CCTETA;Ccth;MGC110985;Nip7-1;TCP-1-eta;TCP1ETA CCT-eta;HIV-1 Nef interacting protein;HIV-1 Nef-interacting protein;OTTHUMP00000202321;OTTHUMP00000202322;OTTHUMP00000213063;T-complex protein 1 subunit eta;TCP-1-eta;chaperonin containing t-complex polypeptide 1, eta subunit APPROVED protein-coding ENSG00000135624 1622 06896 605140 REVIEWED 1315007 CCZ1 CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae) 7 7 7 p22.1 6829407 6835946 - 5904867 5932131 + 5938341 5965605 + 6480464 15146197;14702039;12477932;10810093;9847074;20562859;20305638;20709422;12853948;15489334;17897319;18220336;18669648;19413330;19608861;22505724 51622 F5H553;P86790;P86791 ABBA01011061;ABBA01039484;ABBA01039485;ABBA01039486;AC004983;AF151801;AK090536;AMYH01017010;AMYH01017011;AMYH01017012;AMYH01017013;AMYH01017014;AMYH01017015;BC067810;BC132749;BC132751;BI546694;CN310516;NM_015622 AAD34038;AAI32750;AAI32752;NP_056437;P86791 Hs.530000 1684942;1698298;1712086;1712114;2147970;2147972;5014029 A005Y46;D13S1639;G20608;G54092;G54106;RH102686;RH80485 C7orf28A;CCZ1A;CGI-43;H_DJ1163J12.2 CCZ1 vacuolar protein trafficking and biogenesis associated homolog;H_NH0577018.2;OTTHUMP00000208120;hypothetical protein LOC51622;vacuolar fusion protein CCZ1 homolog APPROVED protein-coding ENSG00000122674 21691 12915 VALIDATED 1313488 CCT8 chaperonin containing TCP1, subunit 8 (theta) 21 21 21 q22.11 15612113 15629468 - 29350518 29367881 - 30428647 30446010 - 1580863;6480464 7890169;16780588;16916647;16021519;15592455;15489334;14532270;12477932;11532003;10830953;10748209;10508479;8590283;8125298;7584028;7584026;18782753;16085932;20585571;21145461;21319273;17643375;18029348;18775504;20193073;16497536;17500595;21832049;22939629;16196087;17314511;19135240;19156129;20305087;21139048;21890473;21906983;21963094;22145905;17370265;20639865;21081666;21942715;22079093;20473970;21628590;22863883;23022380;19380743;22337587;22505724 10694 B4DEM7;B4DQH4;H7C2U0;H7C4C8;P50990 ABBA01057248;ABBA01057249;ABBA01057250;ABBA01057251;AF129075;AK222490;AK293705;AK298801;AK308063;AL163249;AMYH01012188;BC005220;BC012584;BC035472;BC072001;BC095470;BU932439;CH471079;D13627;D42052;NM_006585;Z37163 AAH12584;AAH72001;AAH95470;BAA02792;BAA07652;BAD96210;BAG57138;BAG60936;CAA85520;CAB90433;EAX09924;EAX09925;EAX09926;NP_006576;P50990 Hs.125113 1692430;1730851;2124809;5107853;5126525 AL033864;D21S388;D5S2639;RH25243;SHGC-51868 C21orf112;Cctq;D21S246;KIAA0002;PRED71 CCT-theta;OTTHUMP00000096462;OTTHUMP00000096463;OTTHUMP00000096464;T-complex protein 1 subunit theta;T-complex protein 1, theta subunit;TCP-1-theta;renal carcinoma antigen NY-REN-15 protein-coding ENSG00000156261 1623 10816 VALIDATED 1342532 CD160 CD160 molecule CD160 is an 27 kDa glycoprotein which was initially identified with the monoclonal antibody BY55. Its expression is tightly associated with peripheral blood NK cells and CD8 T lymphocytes with cytolytic effector activity. The cDNA sequence of CD160 predicts a cysteine-rich, glycosylphosphatidylinositol-anchored protein of 181 amino acids with a single Ig-like domain weakly homologous to KIR2DL4 molecule. CD160 is expressed at the cell surface as a tightly disulfide-linked multimer. RNA blot analysis revealed CD160 mRNAs of 1.5 and 1.6 kb whose expression was highly restricted to circulating NK and T cells, spleen and small intestine. Within NK cells CD160 is expressed by CD56dimCD16+ cells whereas among circulating T cells its expression is mainly restricted to TCRgd bearing cells and to TCRab+CD8brightCD95+CD56+CD28-CD27-cells. In tissues, CD160 is expressed on all intestinal intraepithelial lymphocytes. CD160 shows a broad specificity for binding to both classical and nonclassical MHC class I molecules. [provided by RefSeq, Jul 2008] 1 1 q21.1 144407155 144426922 - 145695798 145715565 - 1580863;6480464 12477932;15494480;9973372;9743336;19109136;18193050;17237375;17218942;15489334;15073036;11978774;8090781;21482699;19626042;20164468;20237496;21191401;21715317;22916009;21982860;21276121;21959263;22172098 11126 O95971;Q5T2V6;Q6FH89 AA463248;ABBA01005738;AC242845;AF060981;AI241015;AK128370;AL390725;AMYH01001373;BC014465;CD638675;CH471244;CR541867;CR541888;EU016100;EU016101;NM_007053;NR_103845 AAC72302;AAH14465;ABM83981;ABM87303;ABV89736;ABV89737;CAG46665;CAG46686;CAI13713;CAI13714;EAW71440;NP_008984;O95971 Hs.488237;Hs.740780 1647513;1660680;1692970;1797362 AL034202;CD160_2137;RH47556;RH78835 BY55;FLJ46513;NK1;NK28 CD160 antigen;CD160 transmembrane isoform;CD160-delta Ig;OTTHUMP00000015585;natural killer cell receptor BY55;natural killer cell receptor, immunoglobulin superfamily member APPROVED protein-coding ENSG00000117281 17013 06833 604463 VALIDATED 1347263 CD14 CD14 molecule The protein encoded by this gene is a surface antigen that is preferentially expressed on monocytes/macrophages. It cooperates with other proteins to mediate the innate immune response to bacterial lipopolysaccharide. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Mar 2010] 5 5 q31.1 139991501 139993439 - 140011313 140013286 - 1580252;1580255;1580863;1580257;2314152;2314154;2314155;2314173;2314179;2314175;2314156;724637;4144796;4144197;4144208;4144143;4144784;4144205;4144789;4144210;4144780;4144788;4144795;4144798;4144228;4144810;4144156;4144782;4144813;4144814;4144815;4144794;4144809;6480464;7183752;7184431;6907045;7183676;2312712;4144091;7185660;7193054;7204129;7204499;7204130;7204444;7204443;1342461;7191232;7204441;7247704 10195920;14587643;15310678;18728522;18157711;17436151;14614560;16628253;10831941;16873708;12046090;19466271;16210672;18312481;19201771;17196641;18008256;15731076;17471431;20430603;17185649;20109306;19222419;19096003;16950285;18070011;18235097;16387800;15940135;15741437;20302606;17825924;22511970;21172039;22564590;19162137;19824106;19534684;15117676;22072187;12566518;20555320;10966493;11829837;15145554;17565820;15640605;22119168 2402637;8798531;9548256;9665271;19605672;19595045;19559392;19536153;19527514;19522765;19508433;19500269;19479237;19447482;19433913;19420105;19365146;19361972;19346955;19337058;19318422;19275920;19264973;19263529;19258923;19254290;19247692;16509825;16492974;16473828;16467036;16446545;16444757;16443672;16437636;16433727;16427140;16409569;16386288;16385250;16381901;16368002;16344560;16337421;16335952;16331574;16292464;16290232;16283111;16275943;16273622;16273620;16266379;16246938;16239565;16194368;16174099;16174094;16165702;16159630;16148556;16142747;16137548;16109674;16101942;16085746;16061600;16051275;16046876;16038043;15975149;15966209;15946916;15932345;15879416;15867866;15854776;15842262;15778383;15777548;15764151;15753758;15714129;15686783;15670766;15655821;15647432;15619435;15602630;15599151;15591473;15558232;15520404;19242719;19225544;19210273;19200604;19189651;19148143;19131662;19060757;19046305;19037967;19028820;19027777;19019335;19010986;19006850;18991094;18987746;18974842;18974840;18951711;18938271;18931892;18818748;18810425;18794053;18774388;18767926;18714537;18691306;18676680;18666712;18664531;18634146;18606699;18596635;18580477;18580445;18571004;18565258;18519568;18497880;18496988;18495781;18458151;18426570;18425216;18417506;18415752;18414664;18385826;18354240;18320914;18315435;18288274;18182917;18180796;18180316;18174680;18158110;18067042;18057002;18056918;18040078;17982638;17949800;17943182;17934216;17925604;17919709;17916440;17913858;17900622;17877801;17877764;17869646;17846597;17802898;17703412;17653770;17617027;17607003;17600225;17565650;17515856;17511783;17456337;17448042;17438094;17309585;17304102;17274987;17264400;17259806;17217435;17207357;17205552;17201240;17187267;17126402;17098305;17087609;17086894;17075287;17067484;17062130;17056323;17052752;17046070;17030237;17007028;17003960;16950521;16933467;16916546;16893989;16890863;16879054;16860318;16848791;16815140;16785528;16751411;16749413;16706818;16698680;16625214;16614348;16611358;16552356;16538169;16520888;15516360;15491315;15489336;15489334;15378299;15373760;15369724;15358661;15356557;15292769;15273551;15269840;15257175;15207785;15190267;15175649;15166925;15164100;15143473;15132789;15120158;15116260;15081257;15080833;15069085;15039096;15034063;14996480;14739370;14720421;14706103;14673018;14672339;14648231;14624155;14617510;14517520;14517492;14510720;14508193;14500479;12960274;12942028;12940436;12938192;12911501;12897754;12885845;12853157;12832426;12825176;12757265;12756848;12754215;12731067;12700637;12679473;12663765;12624278;12594207;12580907;12492251;12477932;12450609;12438323;12417309;12410798;12404174;12324469;12207338;12196527;12185442;12174084;12171914;12140663;12126249;12117913;12106839;12103253;12101079;12082592;12075251;12067299;12011764;12006789;11985523;11935032;11932927;11876746;11854210;11843056;11841490;11825494;11810121;11779220;11745332;11732288;11489942;11343243;11282774;11257272;11199329;11145656;11083760;11076863;11062291;10575214;10395652;9655682;9562334;9142045;7583357;3385210;2779588;2472171;2462937;2453848;2448876;12414752;22564189;22703766;21333644;19572148;20618347;21885391;21277522;20587312;20703737;21039068;21048031;21052690;21079949;20660791;21041645;21084593;20219985;20113368;20364047;20430725;20832340;15342556;16512634;16836908;19170196;19360901;19390489;19423540;19468702;19550115;19578796;19584052;19625176;19674346;19692168;19701968;19729601;19733948;19741468;19758335;19761511;19795323;19799036;19809507;19829130;19830784;19845895;19847953;19860589;19892918;19928913;19948975;19997857;20039305;20085599;20092898;20109750;20163933;20207250;20227257;20346360;20363151;20377740;20381257;20384875;20394509;20395963;20398919;20406964;20438785;20452482;20463618;20472613;20503287;20536280;20472010;20532808;19913121;20485444;20536507;20579716;20603037;20608916;20628086;20673868;20677014;20723409;20730440;20636398;20826579;21303362;21361908;21178007;21191073;21209279;20865702;21063024;21253969;21257965;21278688;23162014;22648004;23101184;23121673;21118416;20964518;21062235;21293259;21489615;22737215;21596674;22999728;23589304;21389010;21705839;21799175;21808991;21921097;22056216;22219617;22232682;22265692;21745379;21905503;21498585;21633598;21700881;22014346;21722015;21842127;20717070;21476947;21948372;21740312;22015088;22697010;20179016;22482418;22260507;22363790;22376040;22445606;22384567;23264655;23206327;23000519;23194293;22937756;23046822;23430250;22812245;21988832;22961048;23049772;23079836;22808111;23162132;23107636;23201091;23036097 929 D6RD81;D6RFL4;E7EVL5;P08571 AB446505;ABBA01026424;AC116353;AF097942;AK313277;AMYH01015661;AY044269;BC010507;BP300412;BT007331;CF593452;CH471062;DA269805;DA426297;DA681405;M86511;NG_023178;NM_000591;NM_001040021;NM_001174104;NM_001174105;W74441;X06882;X13334 AAA51930;AAC83816;AAH10507;AAL02401;AAP35995;BAG36085;BAG55282;CAA29999;CAA31711;CAL37570;CAL37702;CAL38264;CAL38573;EAW62037;NP_000582;NP_001035110;NP_001167575;NP_001167576;P08571 Hs.163867 1650171;1658953;1725717;1781086;1791370;1792094;1792342;1795134;1795236;2131419 CD14;CD14_82;G62118;PMC108311P1;PMC136845P1;PMC148872P1;PMC98826P1;RH11569;RH17946;RH67904 OTTHUMP00000159892;OTTHUMP00000223710;OTTHUMP00000223711;OTTHUMP00000224328;cd14 antigen;monocyte differentiation antigen CD14;myeloid cell-specific leucine-rich glycoprotein APPROVED protein-coding ENSG00000170458 1628 01151 158120 REVIEWED 733300 CD151 CD151 molecule (Raph blood group) The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008] 11 11 p15.5 822952 828835 + 832952 838835 + 1580863;6480464;7240710 21193415;14676841;9602068;8627808;19330835;19159612;19065669;18997004;18852263;18663148;18508921;18492066;18451146;18328426;18000614;17716972;17632541;17265493;17009258;16798740;16571677;16490193;16297202;16139245;15677332;15591117;15489334;15265795;15226180;12579280;12477932;12456024;11907260;11884516;11809818;11774285;11739647;11337467;11278880;11181065;10811835;10447000;10229664;10036233;9111230;9070943;8125298;7632941;1958484;12775420;18713730;12175627;10734060;10741407;15492270;20578262;22457534;12802069;16200075;16757171;19509057;19531562;19740096;20149781;20581856;20937830;21042756;21237282;21323946;20927591;20715158;20978946;22328509;21320503;21428938;21832275;21139048;21890473;21961047;21987572;22824799;22338088;22294188;23302890;22926763;23251661;21963094;22952421;22843693 977 E9PJC8;E9PJE8;E9PK37;E9PLZ6;E9PMR4;E9PP93;E9PRJ3;E9PSA1;K4DIB7;P48509;Q6ZNZ0 ABBA01015212;AF315942;AK130369;AK223186;AK293073;AL161965;AMYH01003295;AMYH01003296;AP006621;AP006623;AU099249;BC001374;BC013302;BQ957432;BT007397;BT020132;CH471158;CR456826;CR542098;D29963;DQ074789;NG_007478;NM_001039490;NM_004357;NM_139029;NM_139030;U14650 AAA87064;AAH01374;AAH13302;AAK14179;AAP36061;AAV38934;AAY68211;ABM84596;ABM86743;BAA06229;BAC85335;BAD96906;BAF85762;CAG33107;CAG46895;EAX02400;EAX02401;EAX02402;EAX02403;EAX02404;EAX02405;EAX02406;EAX02407;NP_001034579;NP_004348;NP_620598;NP_620599;P48509 Hs.654379 1778699 RH47994 GP27;MER2;PETA-3;RAPH;SFA1;TSPAN24 CD151 antigen (Raph blood group);OTTHUMP00000164434;OTTHUMP00000229166;OTTHUMP00000229168;OTTHUMP00000229169;OTTHUMP00000229170;OTTHUMP00000229174;hemidesmosomal tetraspanin CD151;membrane glycoprotein SFA-1;platelet surface glycoprotein gp27;platelet-endothelial cell tetraspan antigen 3;platelet-endothelial tetraspan antigen 3;tetraspanin-24;tspan-24 APPROVED protein-coding ENSG00000177697 1630 03763 179620;602243;609057 REVIEWED 2299188 CD177P1 CD177 molecule pseudogene 1 19 19 19 q13.31 40676720 40684110 - 48564296 48586093 - 43875887 43883277 - 11846455 653579 H7BYC5 ABBA01040856;AC005392;AMYH01009838;AMYH01009839;NG_005616 CD177P APPROVED pseudo 34508 INFERRED 1603478 CD164L2 CD164 sialomucin-like 2 1 1 1 p36.11 26102892 26107101 - 27578183 27582392 - 27705596 27709805 - 6480464 16710414;16344560;15340161;12975309;12477932;22471352 388611 Q5JXD4;Q6UWJ8 ABBA01034970;AL096774;AMYH01000422;AY358761;BC137466;BM145910;CH471059;DB231017;NM_207397 AAI37467;AAQ89121;CAI19568;CAI19569;CAI19570;EAX07755;NP_997280;Q6UWJ8 Hs.664836 2110021 UNQ6122__5015 UNQ6122 CD164 sialomucin-like 2 protein;EAPG6122;OTTHUMP00000003472;OTTHUMP00000003474 protein-coding ENSG00000174950 32043 15619 VALIDATED 1603525 CD163L1 CD163 molecule-like 1 This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. The SRCR family is defined by a 100-110 amino acid SRCR domain, which may mediate protein-protein interaction and ligand binding. The encoded protein contains twelve SRCR domains, a transmembrane region and a cytoplasmic domain. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 12 12 12 p13.3 9082999 9171979 - 7398823 7488016 - 7507556 7596749 - 6480464 16344560;15340161;12975309;12477932;11124526;11086079;20032174;20237496;20379614 283316 F5H7R7;H0YFE6;H0YFR4;H0YGF0;Q9NR16 ABBA01012199;AC131205;AC131206;AC131207;AF264014;AK058038;AK303372;AMYH01004214;BC104962;BC104964;BQ024006;CH471116;DA851620;DB145231;GQ397482;NM_174941 AAF91396;AAI04963;AAI04965;ADB45259;BAG64429;EAW88667;EAW88668;NP_777601;Q9NR16 Hs.631727 CD163B;M160 CD163 antigen B;CD163 antigen-like 1;OTTHUMP00000238590;OTTHUMP00000238591;scavenger receptor cysteine-rich type 1 protein M160 APPROVED protein-coding ENSG00000177675 30375 07301 606079 REVIEWED 1321258 CD163 CD163 molecule The protein encoded by this gene is a member of the scavenger receptor cysteine-rich (SRCR) superfamily, and is exclusively expressed in monocytes and macrophages. It functions as an acute phase-regulated receptor involved in the clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages, and may thereby protect tissues from free hemoglobin-mediated oxidative damage. This protein may also function as an innate immune sensor for bacteria and inducer of local inflammation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 12 12 p13.3 7514676 7547681 - 7623412 7656414 - 6480464 15479433;8370408;19131549;18849484;18604302;18563533;18542032;18410276;18320015;18316565;18078989;17947394;17629586;17548657;17525367;17460152;17117055;17102136;17095719;16522161;16434690;16335952;16189277;15846794;15624762;15613100;15489334;15478309;15448162;15146432;15075364;14962251;14656926;12477932;12377940;12296867;12208511;12115225;11865982;11854028;11688984;11334962;11298324;11196644;11124526;10648003;10577520;10403791;10066432;8125298;22354894;21120485;20139978;16507898;16517975;18276779;19040468;19473660;19528371;19582880;19885719;19910578;19961729;20237496;20299688;20379614;20472850;20807704;21813065;22937125;22098563;22884782;22948049;22362417;16344560;22682876;22540373;23326413;23589619;21737148;21799753;21692033;21766094;21839737;21933102;22504842;22949100;21962403;22279103;22060747;22044760;22211334;22290142;22309204;22450890;22911680;23224400;22407921;22453843;22807450;22289504 9332 C9JHR8;F5GZZ9;H0YFM0;H0YGZ7;Q86VB7 AA962842;ABBA01012200;AC131206;AI128043;AI129762;AK226017;AMYH01004214;BC051281;CH471116;DA619387;DB291765;DQ058615;NG_029826;NM_004244;NM_203416;Y18388;Z22968;Z22969;Z22970;Z22971 AAH51281;AAY99762;CAA80541;CAA80542;CAA80543;CAA80544;CAB45233;EAW88662;EAW88663;EAW88664;EAW88665;EAW88666;NP_004235;NP_981961;Q86VB7 Hs.504641 2143590;2154438;5014422;5122856 D12S1890;G15942;STS-H93331;STS-T92350 M130;MM130 OTTHUMP00000238617;OTTHUMP00000238618;OTTHUMP00000238619;OTTHUMP00000238620;hemoglobin scavenger receptor;macrophage-associated antigen;scavenger receptor cysteine-rich type 1 protein M130 APPROVED protein-coding ENSG00000177575 1631 05708 605545 REVIEWED 736961 CD164 CD164 molecule, sialomucin Sialomucins are a heterogeneous group of secreted or membrane-associated mucins that appear to play 2 key but opposing roles in vivo: first as cytoprotective or antiadhesive agents, and second as adhesion receptors. CD164 is a type I integral transmembrane sialomucin that functions as an adhesion receptor (Watt et al., 1998 [PubMed 9680353]; Forde et al., 2007 [PubMed 17077324]).[supplied by OMIM, Aug 2008] 6 6 q21 109794414 109810340 - 109687717 109703762 - 1580863;6480464 10491205;9763543;9680353;18391951;18029348;17077324;16924678;16859559;16341674;15916720;14574404;12477932;11862985;11027692;10878358;8889548;1478919;19862010;20872290;23446634;22409183;18624398;21999799;19322201 8763 D6R9B4;Q5JSU3;Q9NR26 ABBA01026127;AF106518;AF263279;AF299340;AF299341;AF299342;AF299343;AK298684;AK301692;AK303525;AK308664;AK310854;AK312357;AK315908;AL359711;AMYH01016582;BC011522;BC037914;BC040317;BM668503;BM817924;BM830140;CH471051;D14043;DC403839;EB388947;NM_001142401;NM_001142402;NM_001142403;NM_001142404;NM_006016 AAC82473;AAF85965;AAG53903;AAG53904;AAG53905;AAG53906;AAG53907;AAG53908;AAH11522;ABM81960;ABM85139;BAA03130;BAG35275;BAG60847;BAG63164;BAG64553;BAH14279;EAW48348;EAW48349;EAW48350;EAW48351;EAW48352;EAW48353;EAW48354;EAW48355;NP_001135873;NP_001135874;NP_001135875;NP_001135876;NP_006007;Q04900 Hs.520313 1657382;1795506;1855000;2125351;2130398;2140633;2146924;2162916;5015881 CD164_1595;GDB:335751;RH17374;RH37462;RH46836;SHGC-12821;STS-N27287;WI-18149;WI-18736 MGC-24;MUC-24;endolyn CD164 antigen, sialomucin;MGC-24v;OTTHUMP00000016954;OTTHUMP00000016955;OTTHUMP00000016956;OTTHUMP00000016957;OTTHUMP00000220522;OTTHUMP00000220523;cd164 antigen;multi-glycosylated core protein 24;sialomucin core protein 24 APPROVED protein-coding ENSG00000135535 1632 04523 603356 VALIDATED 1351549 CD1A CD1a molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to the plasma membrane and to recycling vesicles of the early endocytic system. Alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 1 1 q22-q23 156490551 156494683 + 158223927 158228059 + 1580863;6480464 2478463;18287231;18251780;18184269;18178838;17652534;17428545;17197902;17082618;16820217;16670277;16598657;16344560;16272286;16208376;15864273;15756258;15749918;15723809;15556687;15099564;15032598;14991068;14739458;12925210;12833155;12477932;12415264;11580851;10963609;10626896;10488738;8729450;7517559;3097645;3093894;3053166;2784820;2701945;2583117;2447586;19321495;18838176;18624350;18337829;18337560;1301170;17077296;16454711;15262497;19317050;20954848;20592474;19257981;19426597;19605355;19952356;20026739;20237496;20890667;21496400;21696499;21194729;22939629;22318606;22331868;22003931;22007938;22670773;21900947;21988832;23468110;18555888;19234184;20139419;22103833 909 P06126;Q8N5T0 ABBA01016629;AF142665;AK312945;AL121986;AMYH01001443;BC031645;CA432941;CH471121;DB108750;M14663;M22080;M22163;M22164;M22165;M22166;M22167;M27735;M28825;NM_001763;X04450 AAA51931;AAA51932;AAA51933;AAA51934;AAD37578;AAH31645;ABM82272;ABM85452;BAG35786;CAA28049;EAW52843;EAW52844;NP_001754;P06126 Hs.1309 1715371;2142459;2153150 D1S3258;RH11438;RH120517 CD1;FCB6;HTA1;R4;T6 CD1A antigen, a polypeptide;OTTHUMP00000018907;T-cell surface antigen T6/Leu-6;T-cell surface glycoprotein CD1a;cluster of differentiation 1 A;cortical thymocyte antigen CD1A;differentiation antigen CD1-alpha-3;epidermal dendritic cell marker CD1a;hTa1 thymocyte antigen APPROVED protein-coding ENSG00000158477 1634 01776 188370 REVIEWED 1603627 CD177 CD177 molecule NB1, a glycosyl-phosphatidylinositol (GPI)-linked N-glycosylated cell surface glycoprotein, was first described in a case of neonatal alloimmune neutropenia (Lalezari et al., 1971 [PubMed 5552408]).[supplied by OMIM, Mar 2008] 19 19 q13.2 48549665 48559320 + 43857825 43867480 + 6480464 15985544;12010833;19185066;18854317;18156711;17980909;17976520;17580308;17244676;16682284;16502591;15951300;15572213;15489334;15340161;15043575;14701686;14692971;12975309;12901344;12756017;12623849;12617169;12591276;12477932;12377969;12239154;11846455;11465086;10753836;8301201;8125298;5552408;1382544;16189514;21193407;15862967;19695014;19999391;20194726;22300941;20491791;22266279;22690867 57126 F8W8N6;Q8N6Q3 AB237911;ABBA01040855;AC005392;AF146747;AJ290452;AJ305326;AJ310433;AK225226;AK290965;AM884905;AMYH01009835;AMYH01009836;AMYH01009837;AMYH01009838;AY358932;BC029167;BT020111;NM_020406 AAG00895;AAH29167;AAQ89291;AAV38914;ABM82971;ABM86165;BAE93254;BAF83654;CAC44459;CAC83724;CAC83758;CAP05216;NP_065139;Q8N6Q3 Hs.232165 HNA-2a;HNA2A;NB1;NB1 GP;PRV-1;PRV1 CD177 antigen;HNA-2a;NB1 GP;NB1 glycoprotein;PRV-1;cell surface receptor;human neutrophil alloantigen 2a;polycythemia rubra vera 1;polycythemia rubra vera protein 1 APPROVED protein-coding 30072 01222 162860 VALIDATED 1319228 CD19 CD19 molecule Lymphocytes proliferate and differentiate in response to various concentrations of different antigens. The ability of the B cell to respond in a specific, yet sensitive manner to the various antigens is achieved with the use of low-affinity antigen receptors. This gene encodes a cell surface molecule which assembles with the antigen receptor of B lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation. [provided by RefSeq, Jul 2008] 16 16 p11.2 28850761 28858164 + 28943260 28950668 + 1580863;6480464;6907045;7240710 7636191;21330302;15187135;15144712;14607925;12477932;12387743;12215898;12002767;11120811;11080163;10933394;10706702;10201980;9804823;9694255;9648915;9178909;9120258;7589101;7568175;7528218;7513297;2459292;1702139;1383329;1375324;1370948;8647200;1373518;1714482;2472450;19421221;19001137;18671252;18495958;18333845;18174230;18051214;17882224;17493148;17327405;16672701;16430962;16430470;16352804;16344560;15593213;15549146;15489334;16289966;21081841;21786452;19454653;19561539;19574428;19828092;19882758;20022378;20164433;20208555;20237408;20237496;22826319;20377416;20726320;21102463;21339041;20445561;22990118;20359104;21693761;21348573;21599592;21961844;17213291;21635204;20301476;20402410;22563781 930 P15391 AA760729;AB052799;ABBA01045683;AC109460;AF045018;AK130657;AK301167;AK301363;AK304456;AK307295;AK313577;AMYH01007479;BC006338;BC052294;CH471267;DA959905;M21097;M62550;M84371;NG_007275;NM_001178098;NM_001770;X13312 AAA35533;AAA69966;AAB60697;AAD02340;AAH06338;ABM83942;ABM87260;BAB60954;BAC85403;BAG62756;BAG62907;BAG65273;EAW52008;EAW52009;EAW52010;EAW52011;EAW52012;EAW52013;NP_001171569;NP_001761;P15391 Hs.652262 1681716;1742097;1792096;1858489 G10610;GDB:191081;PMC136845P2;RH65240 B4;CVID3;MGC12802 B-lymphocyte antigen CD19;B-lymphocyte surface antigen B4;OTTHUMP00000122551;T-cell surface antigen Leu-12;cd19 antigen;differentiation antigen CD19 APPROVED protein-coding ENSG00000177455 1633 00113 107265;613493 REVIEWED 1344711 CD1C CD1c molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene is broadly distributed throughout the endocytic system via a tyrosine-based motif in the cytoplasmic tail. Alternatively spliced transcript variants of this gene have been observed, but their full-length nature is not known. [provided by RefSeq, Jul 2008] 1 1 q22-q23 156526187 156531188 + 158259563 158264564 + 1580863;6480464 1702817;2447586;2701945;19468063;18624350;18337560;18287231;16710414;16272286;15749918;15611286;15556687;15489334;15032598;14551186;12486100;12477932;12454749;12415264;11580851;11145857;10899914;10890914;10786796;10626896;10488738;8729450;8125298;7517559;3097645;2583117;21436634;19828201;20237496;20888334;21451111;22678905;21900247;23530121;22888216;23347583;23468110 911 H0Y6Y6;P29017 AA824381;ABBA01016629;AF142667;AK226024;AK298234;AK310710;AL121986;AMYH01001443;BC126465;BC126467;CH471121;CR457080;M14667;M18232;M22174;M22175;M22176;M22177;M22178;M28827;NM_001765;X79311 AAA51938;AAA51941;AAA51942;AAD37580;AAI26466;AAI26468;ADR82954;ADR83360;BAG60503;CAG33361;EAW52842;NP_001756;P29017 Hs.132448 2135937 D1S3359 BDCA1;CD1;CD1A;R7 CD1C antigen, c polypeptide;OTTHUMP00000018909;OTTHUMP00000035066;T-cell surface glycoprotein CD1c;cortical thymocyte antigen CD1C;differentiation antigen CD1-alpha-3 APPROVED protein-coding 1636 01772 188340 REVIEWED 1317791 CD180 CD180 molecule CD180 is a cell surface molecule consisting of extracellular leucine-rich repeats (LRR) and a short cytoplasmic tail. The extracellular LRR is associated with a molecule called MD-1 and form the cell surface receptor complex, RP105/MD-1. It belongs to the family of pathogen receptors, Toll-like receptors (TLR). RP105/MD1, by working in concert with TLR4, controls B cell recognition and signaling of lipopolysaccharide (LPS), a membrane constituent of Gram-negative bacteria. [provided by RefSeq, Jul 2008] 5 5 q12 66513872 66528368 - 66478103 66492617 - 1580863;6480464 17448566;8975706;15852007;15489334;15342556;15340161;12539042;12477932;9763566;9686597;19423540;20133206;20237496;20331378;20379614;20406964;20438785;20430725;20233331;21048031;21890473;21959264;22219177;22484241;23103284;10880523 4064 Q99467 ABBA01048308;AC026445;AK313177;AL544501;AL570708;AMYH01015139;AW512119;BC109069;BC109070;BP344300;CH471137;D83597;NM_005582 AAI09070;AAI09071;BAA12019;BAG35994;EAW51318;NP_005573;Q99467 Hs.87205 1680142;1688598;2145623;2149436 RH80777;RH93570;SHGC-59933;SHGC-60152 LY64;Ly78;MGC126233;MGC126234;RP105 CD180 antigen;OTTHUMP00000161890;lymphocyte antigen 64;lymphocyte antigen 64 homolog, radioprotective 105kda (mouse);lymphocyte antigen-64, radioprotective, 105kDa;radioprotective 105 kDa protein APPROVED protein-coding ENSG00000134061 6726 03749 602226 VALIDATED 1348815 CD1B CD1b molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail, and requires vesicular acidification to bind lipid antigens. [provided by RefSeq, Jul 2008] 1 1 q22-q23 156564364 156567945 - 158297740 158301321 - 1580863;6480464 12118248;2447586;2701945;19004781;18624350;18538591;18337560;18287231;16874306;16794581;16710414;16272286;15880118;15864273;15556687;15489334;15032598;14764708;14716313;14551186;12477932;12415264;12049721;11938350;11847129;11580851;11160317;11035089;10899914;10626896;10488738;8729450;7542404;7527500;3097645;2583117;20212510;22087000;19454700;19808251;19948070;20237496;17207965;21807869;22505724;23468110;22782895 910 H7C0I2;P29016 ABBA01016629;AF142666;AI336342;AK303329;AK303330;AK310617;AL121986;AMYH01001443;BC069481;BC074747;BC104216;BC104217;CD687240;CH471121;M14665;M22168;M22169;M22170;M22171;M22172;M22173;M28826;NM_001764 AAA51936;AAA51939;AAA51940;AAD37579;AAH69481;AAH74747;AAI04217;AAI04218;ADQ32930;BAG64394;BAG64395;EAW52841;NP_001755;P29016 Hs.1310 1791348;2125536 PMC105497P1;SHGC-12745 CD1;CD1A;MGC125990;MGC125991;R1 CD1B antigen, b polypeptide;OTTHUMP00000018908;OTTHUMP00000035065;T-cell surface glycoprotein CD1b;cortical thymocyte antigen CD1B;differentiation antigen CD1-alpha-3 APPROVED protein-coding ENSG00000158485 1635 01775 188360 REVIEWED 1353762 CD1D CD1d molecule This gene encodes a divergent member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail. [provided by RefSeq, Jul 2008] 1 1 q22-q23 156416361 156422841 + 158149737 158156217 + 1580863;6480464;6907045 11315191;19446558;19415116;19124746;19056691;18713998;18684921;18535199;18458073;18433720;18385757;18378792;18337560;18253929;18068183;17726154;17581592;17476670;17475845;17372201;17363727;17071611;17071498;17015708;16820217;16818729;16710414;16675349;16517731;16456021;16178273;16148122;16091469;16007090;15916790;15665086;15654963;15489334;15345586;15265953;15243159;15187105;15128771;15100293;15032598;14500461;10523605;14716312;14551186;14530337;12952923;12730881;12618910;12477932;12454749;12415264;12368486;12239218;12133957;11968185;11927549;11777966;11754812;11580851;11257307;11006091;10488738;10473580;10221650;9601940;9374463;8729450;8125298;7517575;3097645;2583117;2467814;2463622;1717564;15790518;16454711;16385629;21454514;21185200;20530791;19454494;19592659;19637196;19724888;19734232;19757161;19830742;20080535;20237496;19651460;20368272;20520738;20810727;21198755;20861015;22829134;21451111;21632718;21695190;21846915;21095162;21557213;21646050;21653669;22995911;21258883;21853044;21900247;21925141;21980475;22395072;22407918;21987790;21956730;22406267;22419072;23372165;22888216;23171451;23280365;23049754;23109910;21922073;22103833;23265858;23347583;23468111 912 P15813 ABBA01016630;AF142668;AK225996;AK310749;AL138899;AMYH01001443;BC027926;BX106524;CH471121;J04142;L38816;L38817;L38818;L38819;L38820;M14664;NM_001766;X14974 AAA51935;AAA59672;AAA59673;AAD37581;AAH27926;CAA33099;EAW52847;EAW52848;EAW52849;NP_001757;P15813 Hs.1799 1655590;1703550;1792414;1792416;1792418;1792420;1792422;1792424;2115175;2186424 A004X45;D1S3312;PMC150819P1;PMC150819P2;PMC150819P3;PMC150819P4;PMC150819P5;PMC150819P6;RH66323;SHGC-82759 CD1A;MGC34622;R3 CD1D antigen, d polypeptide;HMC class I antigen-like glycoprotein CD1D;OTTHUMP00000024053;R3G1;T-cell surface glycoprotein CD1d;antigen-presenting glycoprotein CD1d;differentiation antigen CD1-alpha-3;thymocyte antigen CD1D APPROVED protein-coding 1637 01780 188410 REVIEWED 1352820 CD1E CD1e molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes within Golgi compartments, endosomes, and lysosomes, and is cleaved into a stable soluble form. The soluble form is required for the intracellular processing of some glycolipids into a form that can be presented by other CD1 family members. Many alternatively spliced transcript variants encoding different isoforms have been described. Additional transcript variants have been found; however, their biological validity has not been determined. [provided by RefSeq, Jun 2010] 1 1 q22-q23 156590164 156593967 + 158323486 158327343 + 1580863 2467814;19196239;18838176;18325888;18208508;17428545;16820217;16344560;16311334;15752135;15032598;12671734;12144626;11580851;11019917;10948205;10488738;7566098;3097645;3053166;2583117;20954848;12477932;21496400;22880058;21844346;21696499;21788486;22003931;21481186;22505724;22782895 913 A2RRL5;E7ET31;H0Y345;Q9UMM1 AA283335;AA354546;ABBA01016628;AF142669;AJ251334;AJ251335;AJ289111;AJ289112;AJ289113;AJ289114;AJ289115;AJ289116;AJ289117;AJ289118;AJ289119;AJ289120;AJ289121;AJ289122;AK303088;AK303108;AK303217;AK303542;AK310567;AK311643;AL121986;AMYH01001443;BC131693;CH471121;DA827206;DC406237;M14666;NM_001042583;NM_001042584;NM_001042585;NM_001042586;NM_001042587;NM_001185107;NM_001185108;NM_001185110;NM_001185112;NM_001185113;NM_001185114;NM_001185115;NM_030893;X14975;X79517;X79518;X79519 AAA51937;AAD37582;AAI31694;BAG64199;BAG64215;BAG64304;BAG64568;CAA33100;CAA56053;CAA56054;CAA56055;CAB82829;CAB93150;CAB93151;CAB93152;CAB93153;CAB93154;CAB93155;CAB93156;CAB93157;CAB93158;CAB93159;CAB93160;CAB93161;CAC07175;EAW52828;EAW52829;EAW52830;EAW52831;EAW52832;EAW52833;EAW52834;EAW52835;EAW52836;EAW52837;EAW52838;EAW52839;EAW52840;NP_001036048;NP_001036049;NP_001036050;NP_001036051;NP_001036052;NP_001172036;NP_001172037;NP_001172039;NP_001172041;NP_001172042;NP_001172043;NP_001172044;NP_112155;P15812 Hs.249217 1645043;1662504;2155049 AL009528;RH46983;RH70821 CD1A;FLJ17609;R2 OTTHUMP00000018910;OTTHUMP00000018911;OTTHUMP00000018912;OTTHUMP00000018913;OTTHUMP00000018914;OTTHUMP00000018915;OTTHUMP00000018916;OTTHUMP00000018917;OTTHUMP00000018918;OTTHUMP00000018919;OTTHUMP00000018920;OTTHUMP00000018921;R2G1;T-cell surface glycoprotein CD1e, membrane-associated;differentiation antigen CD1-alpha-3;hCD1e;leukocyte differentiation antigen;thymocyte antigen CD1E APPROVED protein-coding ENSG00000158488 1638 01781 188411 REVIEWED 10305 CD2 CD2 molecule CD2 is a surface antigen of the human T-lymphocyte lineage that is expressed on all peripheral blood T cells (summarized by Sewell et al., 1986 [PubMed 3490670]). It is one of the earliest T-cell markers, being present on more than 95% of thymocytes; it is also found on some natural killer cells but not on B lymphocytes. Monoclonal antibodies directed against CD2 inhibit the formation of rosettes with sheep erythrocytes, indicating that CD2 is the erythrocyte receptor or is closely associated with it.[supplied by OMIM, Jul 2010] 1 1 p13.1 117098609 117113374 + 117297086 117311851 + 1580863;6480464 1970422;7544493;12356317;2471997;10575274;9270771;11376005;11591762;12714509;11544295;19494291;19237575;19109405;18431797;18318997;17168569;17085486;16803907;16710414;15528362;15489334;12731040;12690097;12530983;12477932;12426371;12369898;12032326;11932928;11602341;11575926;11090067;10722370;10642604;10510361;10404223;10380930;9857189;9843987;9743208;9741631;9677430;8977276;8809126;8551220;8125298;7994575;7933095;7915183;7686927;7539755;7517794;3490670;2901953;2894031;2883656;2444890;2437578;2111780;1976695;1385321;1377404;1351089;1346273;1832084;9475352;7589092;11152963;12618476;16000308;16049493;19502238;19586919;19898481;21048031;20813844;21300823;23314748;21982860;22634534;22013130;17020880;22222639;22084431;21987572;21988832;23112830;18051367 914 P06729;Q53F96;Q5JVN7 ABBA01068494;AK127925;AK223393;AK301154;AK303367;AK310676;AK313614;AL135798;AMYH01000972;BC033583;CH471122;CS278858;HH979251;M14362;M16336;M16445;M19806;NM_001767;X07871 AAA35571;AAA51738;AAA51946;AAA53095;AAH33583;ABM81879;ABM85041;BAD97113;BAG36377;BAG62744;BAG64425;CAA30721;CAJ86523;CBX51829;EAW56661;NP_001758;P06729 Hs.523500 1740785;1795512;2134357;2151114;5022200 CD2_1700;D1S3452;D1S3476;L18426;RH69083 FLJ46032;LFA-2;SRBC;T11 CD2 antigen (p50), sheep red blood cell receptor;LFA-2;LFA-3 receptor;OTTHUMP00000024366;T-cell surface antigen CD2;T-cell surface antigen T11/Leu-5;cd2 antigen;erythrocyte receptor;lymphocyte-function antigen-2;rosette receptor APPROVED protein-coding ENSG00000116824 1639 01750 186990 VALIDATED 1602956 CD200R1L CD200 receptor 1-like 3 3 3 q13.2 110942831 110973134 - 114017246 114047487 - 112534556 112564797 - 6480464 16928187;15471863;12960329;12477932;22219177 344807 F8WDF0;Q6Q8B3 ABBA01061658;ABBA01061659;AC074044;AC092892;AMYH01013392;AY284976;AY552790;BC144504;BC144507;NM_001008784;NM_001199215 AAI72292;AAQ19773;AAT00538;NP_001008784;NP_001186144;Q6Q8B3 Hs.531814 1727819 G63175 CD200R2;CD200RLa CD200 cell surface glycoprotein receptor 2;CD200 cell surface glycoprotein receptor-like 2;CD200 cell surface glycoprotein receptor-like a;CD200 receptor 2;CD200 receptor-like 2;OTTHUMP00000214680;OTTHUMP00000214681;cell surface glycoprotein CD200 receptor 1-like;cell surface glycoprotein CD200 receptor 2;cell surface glycoprotein OX2 receptor 2;huCD200R2 protein-coding ENSG00000206531 24665 16691 VALIDATED 1606724 CD200R1 CD200 receptor 1 This gene encodes a receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted to the surfaces of myeloid lineage cells and the receptor-substrate interaction may function as a myeloid downregulatory signal. Mouse studies of a related gene suggest that this interaction may control myeloid function in a tissue-specific manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 3 3 q13.2 114124222 114176627 - 112641532 112693937 - 6480464 22491458;19151626;18164423;18040859;17714785;16354172;16177086;15661892;15340161;15220441;15070969;12975309;12960329;12853143;12477932;11133863;10981966;17207965;19786546;19924532;21078907;22575528;22621248;22363701;22566634;22496920;23560298 131450 H9KV32;Q8TD45 ABBA01061657;AC074044;AF283760;AF495380;AF497548;AF497549;AF497550;AK126349;AK293071;AK304426;AMYH01013392;AY284975;AY358910;BC069661;BC069721;BC069743;BC093890;BC143393;CH471052;JA738727;JA738729;JA738731;JA738733;NM_138806;NM_138939;NM_138940;NM_170780 AAH69661;AAH69721;AAH69743;AAH93890;AAI43394;AAM14622;AAM16157;AAM16158;AAM16159;AAN61171;AAQ19772;AAQ89269;ADQ31913;BAF85760;BAG54311;BAG65254;CCF77016;CCF77017;CCF77018;CCF77019;EAW79657;EAW79658;EAW79659;EAW79660;EAW79661;NP_620161;NP_620385;NP_620386;NP_740750;Q8TD46 Hs.309158 CD200R;HCRTR2;MOX2R;OX2R CD200 cell surface glycoprotein receptor;MOX2 receptor;OTTHUMP00000214750;OTTHUMP00000214751;OTTHUMP00000214752;OTTHUMP00000214753;cell surface glycoprotein CD200 receptor 1;cell surface glycoprotein OX2 receptor 1;cell surface glycoprotein receptor CD200 APPROVED protein-coding ENSG00000163606 24235 09609 607546 REVIEWED 1347897 CD207 CD207 molecule, langerin The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of superimposed and zippered membranes. It is a C-type lectin with mannose binding specificity, and it has been proposed that mannose binding by this protein leads to internalization of antigen into Birbeck granules and providing access to a nonclassical antigen-processing pathway. Mutations in this gene result in Birbeck granules deficiency or loss of sugar binding activity. [provided by RefSeq, Aug 2010] 2 2 p13 70910855 70916461 - 71057343 71062953 - 1580863;6480464 10661407;18322168;18277880;18259063;18061677;17938236;17334373;16567809;15831940;15816828;15489334;15222130;14991068;14610287;12477932;12352970;9847074;17077296;16547227;19426597;19923446;20026605;20097424;20181944;20237496;20713888;21112338;21187444;21739428;21540232;21998450;23226363;23382691;18083206;22286874;22842622 50489 Q9UJ71 ABBA01075543;AC007395;AJ242859;AK314927;AMYH01010425;BC022278;CH471053;NM_015717 AAH22278;ABM82890;ABM86080;BAG37434;CAB62403;EAW99793;NP_056532;Q9UJ71 Hs.199731 CLEC4K C-type lectin domain family 4 member K;C-type lectin domain family 4, member K;Langerhans cell specific c-type lectin;OTTHUMP00000203299 APPROVED protein-coding ENSG00000116031 17935 07278 604862;613393 REVIEWED 1320216 CD209 CD209 molecule This gene encodes a transmembrane receptor and is often referred to as DC-SIGN because of its expression on the surface of dendritic cells and macrophages. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are rare but have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 10332; often referred to as L-SIGN). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants.[provided by RefSeq, Feb 2009] 19 19 p13 7710882 7718406 - 7804879 7812464 - 5131181;5131183;5131184;5131188;5131189;5131185;5131186;5131187;6480464;6907045;7240710 21454357;21381282;20864747;21471959;21191006;20050784;18167547;17107989 20940323;21245921;1518869;11337487;19567623;19386588;19282435;19273246;19264667;19258923;19249311;19237024;19126442;19054934;19046307;18848918;18796707;18775666;18772280;18697825;18510454;18458800;18453604;18424363;18405996;18375037;18354216;18353434;18337829;18337571;18318050;18310320;18292560;18285492;18270264;18255039;18171520;18155766;18082570;18080533;18078989;18076668;12515819;12515809;12502850;12496255;12477932;12433371;12352970;12239306;12223058;12176900;12122001;12083838;12050398;12050176;12021323;11884427;11859097;11825572;11799181;11799126;11739956;11384997;11257134;11017109;10975799;10721995;10721994;1602151;16547227;17010165;17151103;17077296;16817962;16672549;16611055;16365436;15752559;15709021;15572157;15545354;15518824;15215692;15208262;15043214;14603101;12941144;12797442;12438611;12097593;11745695;11711593;11588046;17182696;17083721;16454711;15638726;12836198;11825573;18073208;18070336;17962491;17940955;17913809;17876530;17715238;17703412;17659761;17611589;17530998;17530994;17509452;17496896;17462920;17202372;17145745;17056872;17055489;17055357;17041212;17005819;17001080;16940507;16883544;16865785;16839201;16807379;16797773;16698431;16641270;16501104;16469696;16424204;16420576;16386217;16379498;16274635;16252244;16246332;16177066;16155001;16099912;16092920;16061998;16051608;15880118;15855154;15845642;15838793;15838506;15728245;15564514;15509576;15494514;15452205;15385553;15371595;15319853;15210758;15184372;15111305;14970226;14963164;14709546;14707095;14576049;14519388;12960240;12960229;12949494;12783086;12692233;12645952;12626400;12598322;12594843;12574325;12571844;16439540;12634366;15254204;22653683;22629172;20212510;20713631;20588308;22163292;22396536;20364151;20406303;19785948;20484510;20359516;18827881;19423540;19426593;19502234;19682628;19692463;19718030;19773555;19803376;19818504;19828628;19833723;19851890;19879650;19892432;19942750;20034698;20080962;20170964;20331378;20406964;20438785;20470843;20503287;19958673;20217198;20630938;20362001;20829290;20924289;21067616;21081145;21078343;21239715;23019323;21179465;21596034;21386960;21515679;21540232;22553928;21562123;22911807;23424649;22086389;22013110;21860028;21704100;12456590;21792086;23124109;23388721;23416198;22061615;22090124;22205703;22156524;22338216;22027159;22292921;22384201;22169718;22808239;22902397;22700724;15222882;17151939;17263871;17296787;17312166;17452477;17522223;17632570;18040049;18083206;18371209;18473783;18524826;18597806;18641344;18802490;19020832;19193785;19230080;19406479;19681073;20304457;20404846;20594957;20854332;20932025;21142800;21277928;21562048;21743322;21785785;21922073;21957147;21994702;22045343;22091217;22102941;22103833;22175768;22257062;22433013;22470838;22645128;22664939;22675249;22687513;22842622;23294711;22934658 30835 B2R907;B4E2A8;M0QZG5;M0R0P0;Q96QQ8 ABBA01010887;AC008763;AC008812;AF209479;AF290886;AK293089;AK304190;AK308595;AK313585;AMYH01009412;AY042221;AY042222;AY042223;AY042224;AY042225;AY042226;AY042227;AY042228;AY042229;AY042230;AY042231;AY042232;AY042233;BC110615;CH471139;CQ796864;CS126908;M98457;NG_012167;NM_001144893;NM_001144894;NM_001144895;NM_001144896;NM_001144897;NM_001144899;NM_021155;NR_026692 AAF77072;AAG13814;AAI10616;AAK20997;AAK91846;AAK91847;AAK91848;AAK91849;AAK91850;AAK91851;AAK91852;AAK91853;AAK91854;AAK91855;AAK91856;AAK91857;AAK91858;BAF85778;BAG36354;BAG65070;CAG26528;CAJ18838;EAW68991;EAW68992;EAW68993;EAW68994;EAW68995;EAW68996;EAW68997;EAW68998;EAW68999;EAW69000;EAW69001;NP_001138365;NP_001138366;NP_001138367;NP_001138368;NP_001138369;NP_001138371;NP_066978;Q9NNX6 Hs.278694 1673496;1689933;1765851;1791536;1795508;5022578;5037552 CD209_523;D1S1423;D8S2279;PMC114396P1;RH98479;SHGC-149275;STS-AA028127 CDSIGN;CLEC4L;DC-SIGN;DC-SIGN1;MGC129965 C-type lectin domain family 4 member L;C-type lectin domain family 4, member L;CD209 antigen;HIV gpl20-binding protein;dendritic cell-specific ICAM-3-grabbing non-integrin 1;dendritic cell-specific intracellular adhesion molecules (ICAM)-3 grabbing non-integrin APPROVED protein-coding ENSG00000090659 1641 05241 604672;607948;609423;614371 REVIEWED 1606033 CD200 CD200 molecule The protein encoded by this gene is a type-1 membrane glycoprotein, which contains two immunoglobulin domains, and thus belongs to the immunoglobulin superfamily. Studies of the related genes in mouse and rat suggest that this gene may regulate myeloid cell activity and delivers an inhibitory signal for the macrophage lineage in diverse tissues. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 q12-q13 113534606 113564349 + 112051916 112081659 + 6480464 19230971;19151626;19086995;18946351;18838168;18164423;18060862;18060403;18040859;18008004;17964286;16354172;16344560;16303743;16177086;15955564;15699757;15489334;12477932;11726033;11260322;11099416;2902568;12960329;10981966;3032785;19386363;20959655;20050020;20379614;20375636;20442224;21164290;21206086;22575528;23206327;22875025;22621248;23643150;22319630;22363701;22334534;22462561;22496920;21988832;23560298;21982860;22899296;23179394;22064604;22430636 4345 F8W7G1;F8WC99;F8WEX3;P41217 ABBA01061665;AC112487;AF063591;AK074972;AK129797;AK293399;AK297194;AK312563;AL832529;AMYH01013390;AW294653;AY603771;BC022522;BC031103;BI547787;CH471052;CQ783788;DA544134;NM_001004196;NM_005944;X05323;X05324;X05325;X05326 AAG43150;AAH22522;AAH31103;AAT37533;ABM83294;ABM86503;ACE87345;BAG52043;BAG56907;BAG59681;CAA28943;CAF86862;EAW79672;EAW79673;EAW79674;EAW79675;EAW79676;NP_001004196;NP_005935;P41217 Hs.79015 1675116;1679862;1735214;1735270;1741451;2145116;2165578;5106417 D3S2874E;D3S2924E;D3S3951;GDB:181218;RH25443;SHGC-36351;SHGC-77191;WI-20298 MOX1;MOX2;MRC;OX-2 CD200 antigen;MRC OX-2 antigen;OTTHUMP00000214500;OTTHUMP00000214501;OTTHUMP00000214502;OX-2 membrane glycoprotein;antigen identified by monoclonal antibody MRC OX-2 APPROVED protein-coding ENSG00000091972 7203 155970 REVIEWED 1345556 CD24P1 CD24 molecule pseudogene 1 1 1 p36 14419341 14424305 - 15936477 15941441 - 7959762 935 ABBA01004706;AL121992;AMYH01000274;NG_009856 CD24L1 APPROVED pseudo 1646 INFERRED 1347175 CD24P2 CD24 molecule pseudogene 2 15 15 q21.3 33252315 33255067 + 56363537 56366289 + 7959762 936 ABBA01039010;AC084783;AMYH01006674;AMYH01006675;NG_009857 1688196;1743973;1795060;1795510;2152614 CD24_1314;GDB:384235;PMC95860P1;RH66795;RH70313 CD24L2 APPROVED pseudo 1647 INFERRED 1351433 CD24P3 CD24 molecule pseudogene 3 20 q11.21 30098078 30099571 + 7959762;7959762 937 ABBA01019307;AL121751;AMYH01011829;NG_032176 CD24L3 APPROVED pseudo 1648 INFERRED 1323159 CD22 CD22 molecule 19 19 q13.1 40511919 40530104 + 35820072 35838264 + 1580863;6480464;6907045 17585360;9120258;8627166;8647200;7925291;19150402;18174230;17728258;17562860;17493148;17055225;16806233;16344560;15899772;15668918;15588985;15240561;15133509;15057824;12646615;12477932;11994426;11967116;11882357;11826756;11551923;11215824;10748054;10079291;9890995;9774390;9143697;8702538;8496602;8475064;8463235;8125298;7618087;7537381;1985119;1691828;1401903;12853962;10228003;11356834;20841423;19919568;20237496;20172905;19913121;20628086;20726320;8889548;21178016;23083346;21178327;21348573;21961844;22355053;22017452;22986740;21629223 933 E7ERG6;M0QY05;M0QY14;M0QYP4;M0QZ01;M0QZP5;M0QZR7;M0R0R6;M0R1M2;M0R2M0;M0R2R8;M0R3H1;Q0EAF5;Q32M46;Q92872 AB012995;AB012996;AB012997;AB012998;AB012999;AB013000;AB013002;AB013003;AB013004;AB013005;AB013006;AB013007;AB253793;AB253794;AB253795;ABBA01018740;AK026467;AK225625;AK225694;AK301177;AMYH01009727;BC109306;BC109307;BQ054599;CF138699;DA931592;DA989528;DB333800;EF064756;HC042771;NM_001185099;NM_001185100;NM_001185101;NM_001278417;NM_001771;S61375;U62631;X52785;X59350 AAB06448;AAB06449;AAC18956;AAI09307;ABK41939;BAA36564;BAA36565;BAA36566;BAA36567;BAA36568;BAA36569;BAA36571;BAA36572;BAA36573;BAA36574;BAA36575;BAA36576;BAB15489;BAF32756;BAF32757;BAF32758;BAH13422;CAA36988;CAA42006;CBH30554;NP_001172028;NP_001172029;NP_001172030;NP_001265346;NP_001762;P20273 Hs.579691 2106975;2130793;2131217;5024413 CD22_7234;G15883;L17877;RH18118 FLJ22814;MGC130020;SIGLEC-2;SIGLEC2 B-cell receptor CD22;B-lymphocyte cell adhesion molecule;BL-CAM;T-cell surface antigen Leu-14;sialic acid binding Ig-like lectin 2;sialic acid-binding Ig-like lectin 2 protein-coding ENSG00000012124 1643 00114 107266 VALIDATED 1352393 CD24P4 CD24 molecule pseudogene 4 Y Y Y q11.222 6620552 6622554 + 19611899 19614093 - 21152526 21154705 - 6480464 15489334;7959762;1831224;1327504 938 AC009235;AMYH01024913;NG_006012;S75311 Hs.644105 1662914;1686452;1688196;1743969;1743973;1743975;1744969;1795060;1795510;2152614;5116842;5116844 CD24_1314;DYS415;GDB:384220;GDB:384235;GDB:384236;GDB:585571;PMC95860P1;RH15606;RH66795;RH70313;sY3210;sY3211 CD24L4 APPROVED pseudo 1649 INFERRED 1323011 CD226 CD226 molecule This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. [provided by RefSeq, Jul 2008] 18 18 q22.3 65681172 65775139 - 67530192 67624232 - 1580863;6480464 12913096;16831868;8673704;16304049;18987646;18971939;18657862;17875681;17554260;16987076;16887814;16388732;16015041;15693793;15607800;15536144;15489334;15138281;15136589;15039383;14676297;12847109;12477932;10591186;20669283;21521299;21525383;19380793;19536154;19580844;19624611;19690890;19801517;19820697;19865102;19904767;19951419;20072139;20080650;20089178;20219786;20237496;20338887;20379614;20399620;20444755;20498205;20508602;20887380;20613786;21162102;21296979;21406724;22531499;23262348;21286723;21829393;22302395;22512842;22547693;21383766;22427644;23073294;22941566;22301152;22505724;23128233;22139419;23161903 10666 J3QKM7;J3QL19;J3QQW1;J3QR77;J3QRQ4;Q15762 ABBA01056288;ABBA01056289;AC011930;AC090231;AC091137;AJ537553;AK313199;AMYH01009075;AMYH01009076;BC074787;CH471117;GU935335;GU935336;NM_006566;U56102 AAC50560;AAH74787;BAG36015;CAD61184;EAW66515;NP_006557;Q15762 Hs.660130 1653397;1704354;1718021;1756809 AFMB022WE1;RH122627;SHGC-143948;SHGC-78167 DNAM-1;DNAM1;PTA1;TLiSA1 CD226 antigen;DNAX accessory molecule 1;DNAX accessory molecule-1;OTTHUMP00000163693;T lineage-specific activation antigen 1 antigen;adhesion glycoprotein;platelet and T cell activation antigen 1 APPROVED protein-coding ENSG00000150637 16961 09252 605397 REVIEWED 736340 CD24 CD24 molecule This gene encodes a sialoglycoprotein that is expressed on mature granulocytes and in many B cells. The encoded protein is anchored via a glycosyl phosphatidylinositol (GPI) link to the cell surface. [provided by RefSeq, Jul 2008] 6 q21 21152527 21154705 - 1358462;1580863;6480464 14657362 8753773;9129046;15633604;11313396;8213086;11272271;16532032;8223854;16390867;2153173;16930538;12496407;10037815;15174142;15493995;19130400;19072375;19050962;19043399;18752058;18632604;18566397;18559090;18495204;18417991;18413748;18404683;18384848;18381780;17980703;17950993;17944116;17900673;17763438;17700640;17540049;17475624;17411341;16900767;16892043;16890615;16681720;16631259;16621031;16288985;16166435;16164042;16125303;15616015;15489334;14702039;12829373;12610508;12477932;12447971;12368195;12218294;10575223;8928617;7959762;7736776;7553654;1831224;1327504;22335271;21266361;21299347;20628624;19243896;19610054;19706825;19725119;19786366;19787233;19794958;19860845;19896210;19946098;20019840;20230526;20378664;20199686;19998456;20354454;20491779;20336055;20621328;20619441;19906290;21041728;21086907;20177845;20574427;21147107;21308865;21633165;21806966;20567952;22610780;22745528;22760497;22800863;23300877;23314606;23419168;23012401;21536545;21676268;21359202;22529013;22731636;22926560;20405247;21726833;21984372;21813394;21824412;21828044;21849440;21684315;21697762;21666711;21956537;21802218;21961844;21835433;21935375;22014860;22262195;22322379;23318912;21815873;22354323;22500096;21710320;21641619;22369943;22237177;22480875;16885410;19092120;22839505;23087328;23112116;22528516;22135002;23011824;22119938;23028444 100133941 B6EC88;P25063 ABBA01026189;AK026603;AK125531;AL535013;AMYH01024913;BC064619;BG260536;BT007404;D87667;FJ226006;L33930;M58664;NM_013230;X69397 AAA35665;AAB58807;AAH64619;AAP36068;ABM84738;ABM92253;ACI46150;CAA49195;NP_037362;P25063 Hs.644105 1662914;1686452;1688196;1743969;1743973;1743975;1744969;1795060;1795510;2152614;5116842;5116844 CD24_1314;DYS415;GDB:384220;GDB:384235;GDB:384236;GDB:585571;PMC95860P1;RH15606;RH66795;RH70313;sY3210;sY3211 CD24A;FLJ22950;FLJ43543;MGC75043 CD24 antigen (small cell lung carcinoma cluster 4 antigen);cd24 antigen;signal transducer CD24;small cell lung carcinoma cluster 4 antigen APPROVED protein-coding 1645 600074 REVIEWED 736436 CD244 CD244 molecule, natural killer cell receptor 2B4 This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 1 1 q23.3 159066574 159099269 - 160799950 160832692 - 1580863;6480464;7240710 9834056;22438812;10358138;19499526;18794858;18523281;18479751;17981603;17609265;17599905;17300754;17171759;17111350;16803907;16621032;16585556;16410313;16177062;16081768;16002700;15713798;15677558;15611233;15489334;15356108;15340161;15195244;15169881;12515815;12477932;12363025;12077228;11986947;11917118;11815622;11774610;11714782;11714776;11689425;11477068;11342640;11163399;11034353;11003394;10934222;10556801;10458320;10359122;9841922;3772297;16049493;16983070;19586919;19638467;19790054;19904767;20164429;20237496;20379614;20437071;20345977;17207965;18296487;21064032;20813844;21270395;21214542;21439641;21586211;21606496;17213291;21625589;22230401;21102463;23225218;23128233 51744 Q96RQ2;Q9BZW8 ABBA01016608;ABBA01016609;ABBA01016610;ABBA01016611;AF105261;AF107761;AF117711;AF145782;AF242540;AF297616;AF363452;AJ245375;AJ245376;AJ245377;AK295950;AK313201;AL354714;AMYH01001453;BC028073;BC041607;BC053985;CH471121;CS173034;NG_015991;NM_001166663;NM_001166664;NM_016382 AAD32538;AAD37838;AAD38951;AAF28833;AAH28073;AAH53985;AAK00233;AAK50015;AAK57926;ADQ32932;BAG36017;BAG58732;CAC00647;CAC00648;CAC00649;CAJ33698;EAW52691;EAW52692;EAW52693;EAW52694;NP_001160135;NP_001160136;NP_057466;Q9BZW8 Hs.157872 1647397;1706254 D1S2348;SHGC-80670 2B4;NAIL;NKR2B4;Nmrk;SLAMF4 NK cell activation inducing ligand NAIL;NK cell activation-inducing ligand;NK cell type I receptor protein 2B4;OTTHUMP00000027884;OTTHUMP00000027885;OTTHUMP00000027886;OTTHUMP00000027887;SLAM family member 4;h2B4;natural killer cell receptor 2B4;non mhc restricted killing associated;signaling lymphocytic activation molecule 4 APPROVED protein-coding ENSG00000122223 18171 16121 180300;605554 REVIEWED 1353954 CD248 CD248 molecule, endosialin 11 11 q13 65838534 65841091 - 66081958 66084515 - 6480464 10947988;18813310;18761022;18723498;18490383;18192970;18187565;17986615;16076089;15862292;15624764;15489334;14702039;12477932;11489895;11084048;1438285;19948061;20484976;21362178;22206249;21537839;21490589;21926972 57124 Q9HCU0 ABBA01024085;AF279142;AJ295846;AK027290;AMYH01003733;AP001107;BC051340;BC104484;BC105633;BQ005949;CH471076;NM_020404 AAG00867;AAH51340;AAI04485;AAI05634;BAB55018;CAC34381;EAW74511;NP_065137;Q9HCU0 Hs.195727 1769056 STS-R55548 CD164L1;MGC119478;MGC119479;TEM1 2610111G01Rik;CD164 sialomucin-like 1;CD248 antigen, endosialin;OTTHUMP00000235028;endosialin;tumor endothelial marker 1 protein-coding ENSG00000174807 18219 06933 606064 VALIDATED 736538 CD247 CD247 molecule The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q24.2 165666505 165754450 - 167399877 167487847 - 1600789;1580863;6480464;6484113;6907045;7240710 16672702 15743765;15659558;15641485;15592455;15489334;15323357;15274412;15144186;14967045;14757743;14715568;14672952;14550268;14526327;14523017;12928398;12902492;12847689;12755691;12731048;12587826;12522270;12477932;12421992;12420108;12356870;12202152;12176041;12165490;12100036;11950832;11920499;11916964;11891219;11851345;11714771;11572860;11349123;10799879;10722370;10449770;10424441;10224289;9880255;9743208;9687533;9677202;9625766;9575182;9510190;9485181;9484780;9448136;9368621;9172452;9047237;9045614;8977276;8809126;8760790;8675217;8656061;8366117;8125298;7842742;7680960;7629168;7589084;12110186;8176201;11390434;11048639;11827988;15489916;17652306;1390434;19536175;19422667;19229850;19201859;19090773;19082633;19064610;18787188;18721908;18714041;18505733;18463433;18215426;18207249;18178846;18174230;17997796;17951997;17464179;17255353;17176095;17134755;17134238;17055436;17054067;16710414;16616055;16393980;16337488;16094384;15922712;15879101;15749888;7528772;7526385;7517794;7514106;3785426;3478717;2974162;2845582;2145165;2138330;2138083;2111780;1717577;1532817;1530920;1454062;1385321;1385158;17001685;16454711;15186530;12734410;11463741;11525746;7737297;22798681;20453842;16049493;16461343;19259799;19664385;19898481;20032419;20118245;20190752;20237496;20383147;21383967;23057733;8409430;8417118;20179761;15084271;11353765;9036949;20723304;21669053;21669059;21474487;22221142;22551306;22004975;22294642;22401598;22536368;21750679;21779181;22292024;20637659;21988832;23228155;8626561;18051367;18438604;19710135;22345473;22505724;22844345;22911005 919 A46461;P20963;Q6KAV0 ABBA01047243;ABBA01047244;AF228312;AI420774;AK128376;AK223325;AK313946;AL031733;AL359962;AL557555;AMYH01001483;AMYH01001484;BC025703;BI819937;CH471067;DQ072717;EF364119;EU117371;EU117372;EU117373;EU118788;EU118789;EU118790;EU118791;EU118792;EU118793;EU597245;J04132;NG_007384;NM_000734;NM_198053;S51397;S94400;S94404;S94414;S94421;X55510;X55511;X55512 A46461;AAA60394;AAB22030;AAB24602;AAF34793;AAH25703;AAY57330;ABM84704;ABQ28690;ABW03642;ABW06577;ABW06578;ABW06579;ABW96174;ABW96175;ABW96176;ABW96177;ABW96178;ABW96179;ACC61185;BAC87407;BAD97045;BAG36664;EAW90790;EAW90791;EAW90792;NP_000725;NP_932170;P20963 Hs.156445 1667129;1675337;1793172;1795516;2110847;2113660;2145031 CD3Z;CD3Z_527;D1S61;PMC197251P5;RH17588;RH93108;STS-M78967 CD3-ZETA;CD3H;CD3Q;CD3Z;T3Z;TCRZ CD247 antigen, zeta subunit;CD3Z antigen, zeta polypeptide (TiT3 complex);CD3zeta chain;OTTHUMP00000032543;OTTHUMP00000032544;T-cell antigen receptor complex, zeta subunit of CD3;T-cell receptor T3 zeta chain;T-cell surface glycoprotein CD3 zeta chain;TCR zeta chain;cd3 antigen, zeta polypeptide APPROVED protein-coding ENSG00000198821 1677 01729 186780;610163 REVIEWED 6482941 CD27-AS1 CD27 antisense RNA 1 12 p13.31 6548167 6560683 - 12477932;14702039 678655 ABBA01017642;AC005840;AK056500;AK128574;AK307123;AMYH01004203;BC033973;BC041960;BC047072;NR_015382 Hs.655224 1656391;2137196;2161282;5015619 D11S3114;RH17725;SHGC-2359;WI-7129 APPROVED miscrna ENSG00000215039 43896 PREDICTED 1353701 CD27 CD27 molecule The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008] 12 12 p13 6424312 6431145 + 6554051 6560884 + 1580863;1581860;6480464 16698589 20974987;22429370;22197273;12324477;14556986;10809378;12624711;19290077;19109206;18774388;18512812;18322179;18216294;18005092;17942751;17785788;17548342;17475894;16951333;16802356;16751420;16272303;15723067;15685542;15489334;15356138;15340161;15301860;15230280;14702039;19322201;12743427;12685844;12477932;12464570;12197885;12009595;11976819;11801693;11062504;9862673;9794406;9767422;9692890;9582383;9177220;8580829;8530100;8186199;8120384;7479974;2837508;2442250;1655907;1334106;9263011;1711157;16683188;19556308;19698733;19773279;19776762;19866343;20201989;20237496;20393787;21182090;20377416;20568250;20800603;21048031;20879061;20800938;21237436;20699361;23002119;22280534;21277898;21952639;23263849;22232214;21607290;22087280;23576505;23456842;22399187 939 P26842 ABBA01017642;AC005840;AK315732;AMYH01004203;AY504961;BC012160;BI225100;CH471116;HI179022;HI574192;JA323323;M63928;NG_031995;NM_001242 AAA58411;AAH12160;AAR84239;ABM83222;ABW03460;BAG38087;CBX47585;CBX53820;CCA78935;EAW88800;NP_001233;P26842 Hs.355307 1656391;2137196;2218100 RH17725;TNFRSF7_2819;WI-7129 MGC20393;S152;S152. LPFS2;T14;TNFRSF7;Tp55 CD27 antigen;CD27L receptor;OTTHUMP00000238557;T cell activation antigen CD27;T cell activation antigen S152;T-cell activation antigen CD27;tumor necrosis factor receptor superfamily member 7;tumor necrosis factor receptor superfamily, member 7 APPROVED protein-coding ENSG00000139193 11922 01723 186711;615122 REVIEWED 1605684 CD274 CD274 molecule 9 9 p24 5440559 5458477 + 5450503 5470567 + 6480464;6893669;6893671 21494618;20876353 21478111;22397822;22271878;21514692;22461641;22503210;22711893;10581077;19535643;19451266;19229109;19116915;19088198;19081139;19056397;19010538;18981087;18941206;18924219;18850006;18830259;18760278;18756622;18684942;18676751;18650129;18608206;18585785;18572307;18566376;18550794;18549878;18490751;18378285;18347814;18322304;18301333;18294387;18203952;18173375;18086898;17942371;17938288;17920123;17603844;17597384;17562772;17475895;17415709;17363736;17360651;17311651;17203303;17186290;17136123;16916652;16876901;16530813;16493058;16482562;16282703;16265694;16221208;16085391;16002716;15973152;15837746;15780196;15489334;15342209;15297412;15164053;15131796;14702039;14686489;14617032;12923066;12893276;12800259;12719480;12704383;12646628;12606489;12538684;12477932;12468426;12244148;12091876;11015443;20445553;20617899;20677014;21268011;21269571;20522597;20636820;17366897;18024277;18476597;18705009;18756934;19264916;19442732;19597183;19604093;19664385;19684086;19688742;19703193;19729380;19739236;19759858;19794071;19811426;19826049;19830728;19850680;19916867;19950173;20066438;20126379;20367936;17963598;20363965;20506224;20145927;20814675;20817864;20349059;20450779;20513078;18578991;19570392;19224168;20473887;20646001;20587542;20682852;21076061;20601920;20628145;17076679;22430646;22462616;21461580;20722638;20661763;21203985;20626886;21791547;18652314;19297851;20386557;21355078;18928614;19698245;21509782;21830424;19958630;21442435;21555531;21659460;21674477;23288508;23660190;21982860;22739151;22895698;23107341;23193072;21540239;21697455;21503939;21730022;20943073;21912640;22408358;21876620;21844574;21949023;20373055;22894700;23275603;21911310;22174448;22133721;22204817;22190470;23403048;21733718;21851845;21645441;11224527;22828443;22067141;22285902;22322668;22441249;22482418;22661084;22851860;22389764;23383287;23398844;21821233;23243206;23430453 29126 Q0GN75;Q2V8D5;Q9NZQ7 ABBA01065413;AF177937;AF233516;AI826502;AK001894;AK300470;AK314567;AL135786;AL162253;AMYH01019203;AY254342;AY291313;AY714881;BC069381;BC074984;BC113734;BC113736;CH471071;DQ286582;DQ836393;JA738699;NM_001267706;NM_014143;NR_052005 AAF25807;AAG18508;AAH69381;AAH74984;AAI13735;AAI13737;AAP13470;AAP42144;AAU09634;ABB90152;ABI16084;ADR82905;BAA91966;BAG37149;BAG62189;CCF77002;EAW58763;NP_001254635;NP_054862;Q9NZQ7 Hs.521989 1645972;1685484;1705354;1797974;1852570 PDCD1LG1_2379;RH45176;RH78877;RH92039;SHGC-83529 B7-H;B7H1;MGC142294;MGC142296;PD-L1;PDCD1L1;PDCD1LG1;PDL1 B7 homolog 1;CD274 antigen;OTTHUMP00000021029;PDCD1 ligand 1;programmed cell death 1 ligand 1;programmed death ligand 1 protein-coding ENSG00000120217 17635 05655 605402 VALIDATED 1604282 CD276 CD276 molecule The protein encoded by this gene belongs to the immunoglobulin superfamily, and thought to participate in the regulation of T-cell-mediated immune response. Studies show that while the transcript of this gene is ubiquitously expressed in normal tissues and solid tumors, the protein is preferentially expressed only in tumor tissues. Additionally, it was observed that the 3' UTR of this transcript contains a target site for miR29 microRNA, and there is an inverse correlation between the expression of this protein and miR29 levels, suggesting regulation of expression of this gene product by miR29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 15 15 q23-q24 71763675 71793912 + 73976622 74006859 + 6480464 22187944;11224528;15188059;19454675;18941196;18694993;18690846;18676751;18650384;18292521;17406098;16303743;16274630;16049332;15961727;15682454;15489334;15314238;14764704;14702039;12975309;12906861;12477932;12055244;21738484;17851789;19269710;19544488;20035626;20333377;21344157;20696859;21107115;21127709;21792917;21251161;22910694;22487487;21784485;22729558;21518725;21875946;21597388;21671471;21982044;21987572;21893365;22001757;21906983;21963094;22996270;22863596;22473715 80381 H0YK40;H0YK59;H0YKQ9;H0YL10;H0YLT3;H0YLT8;H0YN29;H0YN85;H3BM68;Q5ZPR3 ABBA01038707;ABBA01038708;AC022188;AC100838;AF302102;AJ583695;AK074849;AK074997;AK075549;AK291721;AK292711;AK296358;AK298522;AK309728;AL360136;AMYH01006777;AY358343;BC011578;BC062581;BQ278722;CA420873;CB529187;CH471082;NM_001024736;NM_025240 AAH62581;AAK15438;AAQ88709;BAC11243;BAC11344;BAC11692;BAF84410;BAF85400;BAG59038;BAG60725;CAE47548;EAW77933;EAW77934;NP_001019907;NP_079516;Q5ZPR3 Hs.77873 1644617;1664255;2129151 RH44372;RH77831;STS-W52184 4Ig-B7-H3;B7-H3;B7H3;B7RP-2 B7 homolog 3;CD276 antigen;OTTHUMP00000174913;OTTHUMP00000174914;costimulatory molecule APPROVED protein-coding ENSG00000103855 19137 05756 605715 VALIDATED 735932 CD28 CD28 molecule The protein encoded by this gene is essential for T-cell proliferation and survival, cytokine production, and T-helper type-2 development. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] 2 2 q33 204279443 204310801 + 204571198 204603635 + 1358478;1580863;2307200;2307201;2307197;2307202;2307203;2307204;2307199;2307205;5131622;5131621;5131613;5131614;5131611;5131612;5131616;4892281;5131619;5131620;5131618;6480464;6907045 14975605;11160314;9410902;15504310;18601859;16061730;12864982;11685455;12750179;17989345;18056387;20030671;18801465;21389258;21356099;20713624;20395561;19075187;18057064;19220836 17767555;17703412;17467674;17311991;17284227;17242350;17237383;17197413;17119120;17060905;17015696;16969077;16818765;16801532;16708397;16698688;16638702;16564528;16493040;16339520;16237465;16169852;16136471;16112024;16094384;16005527;15953005;15815621;15592455;15554700;15494485;15489334;9784967;3159820;8717514;3875683;12028592;7492435;11285224;18641304;11390434;19333372;19299722;19284445;19258923;19217084;19211796;19203082;19202444;19109140;18989760;18802089;18684977;18680513;18625635;18617642;18573819;18566447;18566382;18396212;18390701;18389481;18337305;18295596;18211507;18174230;18162511;18097023;17899554;17878391;17878327;17804530;17785788;15353589;15284240;15280538;15214045;15194762;22579879;1355979;1313075;1832084;17023015;9328113;8450224;7541827;8706326;7589092;12836198;10618429;16454711;15078178;16354571;16091223;12734410;15610849;15144186;15079071;15067037;15019278;14984593;14697933;14642527;14550257;12963692;12952926;12928366;12864988;12842899;12626540;12506015;12482386;12477932;12434947;12393716;12377947;12324461;12297341;12207353;12195015;12195013;12167647;12121659;12097397;12077252;12059054;12050373;12036883;11986289;11958588;11932928;11916166;11884439;11877290;11830501;11826754;11826026;11735222;11714771;11713465;11680900;11500828;11123293;11021528;10820259;10754293;10586033;10430626;9694876;9510190;9045614;8992971;8760790;8621607;8576157;8386518;8080844;7737275;7545666;7539755;7523532;7516408;7513726;7509360;2825196;2162892;2157764;2156778;1847722;22230325;22503210;19190244;22732586;21268019;20842443;16344560;21160481;21530327;7566098;12660731;18246813;18751903;18829987;19380781;19573080;19641626;19672595;19735272;19752224;19773279;19824886;19852851;19857736;19898481;19913589;19959217;20113255;20126467;20137575;20190752;20228198;20237496;20331378;20368329;20371478;20433886;20435510;20470888;20503287;9032261;9915850;20814620;20858890;20477885;20140740;20568250;20716621;20846283;20962715;21048031;12777399;20844584;20863851;21291098;21384512;19086656;21277899;21540550;21508506;21324454;21677403;21715687;22385243;23589613;21669243;21931534;22013130;22094905;22783574;19214786;20390280;21841780;21982860;22917707;23470321;23133541;23456842;18438604;18473783;18570590;19149577;19275586;19327048;19449444;19770068;20012528;20380698;20463068;20638642;21068258;21543478;21922073;22013062;22103833;22175768;22505724;22844345;22896637;22911005;21544637 940 B4E0L1;Q70WG0;Q9BYV0 AA311148;ABBA01062617;AC125238;AF222341;AF222342;AF222343;AF411057;AJ295273;AJ517504;AK292986;AK303421;AK313313;AMYH01011418;AW241446;BC093698;BC112085;BF509568;CH471063;DA939711;EF064755;J02988;M37815;NG_029618;NM_001243077;NM_001243078;NM_006139 AAA51944;AAA51945;AAA60581;AAF33792;AAF33793;AAF33794;AAH93698;AAI12086;AAL40931;AAY24123;ABK41938;BAF85675;BAG36118;BAG64473;CAC29237;CAD57003;EAW70347;EAW70348;EAW70349;EAW70350;EAW70351;NP_001230006;NP_001230007;NP_006130;P10747 Hs.443123 1795238;2134281;2183293;5037552 CD28_86;D2S2596;D8S2279;RH68962 MGC138290;Tp44 CD28 antigen;OTTHUMP00000163782;OTTHUMP00000206300;OTTHUMP00000206302;T-cell-specific surface glycoprotein CD28 APPROVED protein-coding 1653 01727 186760 REVIEWED 2290269 CD300LD CD300 molecule-like family member d 17 17 17 q25.1 69168587 69180824 - 70087099 70100011 - 72576111 72588370 - 12975309;19359216;19592130;21982860;23072861;22291008 100131439 Q6UXZ3 ABBA01028836;AC079325;AMYH01008625;AY358148;EF137868;NM_001115152 AAQ88515;ABM30606;NP_001108624;Q6UXZ3 Hs.531099 CD300D;CLM-4;CMRF35-A4;CMRF35A4 CD300 antigen-like family member D;CLM-4;CMRF35-A4;CMRF35-like molecule 4;CMRF35A4;OTTHUMP00000070883;immune receptor CD300d protein-coding 16848 PROVISIONAL 1344130 CD300A CD300a molecule This gene encodes a member of the CD300 glycoprotein family of cell surface proteins found on leukocytes involved in immune response signaling pathways. This gene is located on chromosome 17 in a cluster with all but one of the other family members. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 17 17 q25.1 69974117 69992528 + 72462522 72480937 + 6480464 18535206;18424727;17588661;16339535;15489334;12477932;12456026;10746781;10540326;9701027;1349532;20656921;19359216;19592130;20237496;20498708;21482706;22302738;22046970;22173928;22185693;22043923;22537350 11314 J3QKQ4;Q9UGN4 ABBA01028838;AC079325;AF020314;AF161346;AF176991;AJ010101;AJ010102;AJ010103;AJ224864;AJ238323;AK309631;AK309636;AMYH01008623;AMYH01008624;BC020681;BC032352;BF059016;BM923070;CH471099;JA738695;NM_001256841;NM_007261 AAD01646;AAF28906;AAF89957;AAH32352;CAB52291;CAB52292;CAB52293;CAB55347;CAB66145;CCF77000;EAW89166;EAW89167;EAW89168;NP_001243770;NP_009192;Q9UGN4 Hs.9688 1739653;1760265;1853897;2135780;2144020;2176388;5092984 A009D33;D17S1727E;D17S1985;D17S690;G32451;SHGC-132578;SHGC-36245 CLM-8;CMRF-35-H9;CMRF-35H;CMRF35-H;CMRF35-H9;CMRF35H;CMRF35H9;IGSF12;IRC1;IRC1/IRC2;IRC2;IRp60 CD300 antigen-like family member A;CLM-8;CMRF35-H;CMRF35-H9;CMRF35-like molecule 8;CMRF35H leukocyte immunoglobulin-like receptor;IRC1/IRC2;NK inhibitory receptor;OTTHUMP00000070877;OTTHUMP00000070878;OTTHUMP00000070879;immunoglobulin superfamily member 12;inhibitory receptor protein 60;leukocyte membrane antigen APPROVED protein-coding ENSG00000167851 19319 09492 606790 VALIDATED 1605230 CD300E CD300e molecule This gene encodes a member of the CD300 glycoprotein family of cell surface proteins expressed on myeloid cells. The protein interacts with the TYRO protein tyrosine kinase-binding protein and is thought to act as an activating receptor. [provided by RefSeq, Nov 2012] 17 17 17 q25.1 69201147 69212237 - 70120307 70131396 - 72606022 72619897 - 6480464 15557162;15549731;12477932;20200953;19359216;19592130;20039296;23072861 342510 B4E0V9;C9JDD2;J3KPN5;J3KR39;Q496F6 ABBA01028836;AC064805;AF395839;AK298031;AK303545;AMYH01008625;BC100888;BC100889;BC100890;BX648376;CH471099;NM_181449 AAI00889;AAI00890;AAI00891;AAP42154;BAG60333;BAG64571;EAW89175;EAW89176;NP_852114;Q496F6 Hs.158954 1719147 RH123291 CD300LE;CLM-2;CLM2;CMRF35-A5;IREM-2;IREM2;PIgR-2;PIgR2 CD300 antigen like family member E;CD300 antigen-like family member E;CD300e antigen;CLM-2;CMRF35-A5;CMRF35-like molecule 2;IREM-2;OTTHUMP00000070871;PIgR-2;PIgR2;immune receptor expressed on myeloid cells 2;poly-Ig receptor 2;polymeric immunoglobulin receptor 2 APPROVED protein-coding ENSG00000186407 28874 17158 609801 VALIDATED 1347906 CD2AP CD2-associated protein This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008] 6 6 p12 47553484 47702958 + 47445525 47594999 + 1581187;1600628;1580863;6480464;7240710 16088078;12764198 11067845;10913159;10339567;18029348;19131354;18791326;18396147;17922258;17853893;17823309;17713465;17606992;17188587;17081983;17020880;16895919;16707503;16678097;16344560;15800069;15659563;15592455;15489334;14679214;12690097;12672817;12559036;12530983;12477932;12029088;11733557;10997929;21460840;9741631;8889548;15128873;21460841;12618476;14736876;17474147;19945749;19956976;20379614;20404345;20515931;20457601;22863883;19380743;21911934;21519904;21655212;21890473;20360068;20654576;18753381;22706086;17428861;21822214;22745667;18654987;19738201;21706016;21963094;21988832;22623428;23279575;22412018;22880102;22939629;17072306;20697350 23607 Q9Y5K6 ABBA01050606;ABBA01050607;ABBA01050608;AF146277;AF164377;AJ420469;AL050105;AL355353;AL356421;AL358178;AMYH01016330;AMYH01016331;AMYH01016332;BC069444;BU679191;CH471081;DA040834;NG_008878;NM_012120 AAD34595;AAF80495;AAH69444;CAB43274;EAX04319;NP_036252;Q9Y5K6 Hs.485518 1336337;1657600;1685225;1704916;1739081;1771078;1857817;2175556 78;D6S1352;D6S1689;RH46766;RH70071;RH91996;SHGC-79935;WI-17603 CMS;DKFZp586H0519 CD2-associated protein;Cas ligand with multiple Src homology 3 (SH3) domains;OTTHUMP00000016562;adapter protein CMS;cas ligand with multiple SH3 domains APPROVED protein-coding ENSG00000198087 14258 05026 604241;607832 REVIEWED 1323355 CD2BP2 CD2 (cytoplasmic tail) binding protein 2 This gene encodes a bi-functional protein. In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antigen CD2 via its C-terminal GYF domain, and regulate CD2-triggered T lymphocyte activation. In the nucleus, this protein is a component of the U5 small nuclear ribonucleoprotein complex and is involved in RNA splicing. A pseudogene has been identified on chromosome 7. Alternative splicing results in multiple transcript variants but their biological validity has not been determined. [provided by RefSeq, Nov 2008] 16 16 p11.2 30271669 30274128 - 30362087 30366682 - 1580863;6480464 17353931;12226669;9843987;17906334;17467737;17081983;16949628;16941565;16403013;16120600;16000308;15850374;15840814;15489334;15105431;12477932;12426371;10574461;10404223;2527369;1831175;21145461;19615732;16712791;19759913;22990118;8889548;22939629;19389623;17332742;20360068 10421 O95400;Q5QTR6 AB033004;ABBA01042020;AC106782;AF104222;AF109192;AK315708;AMYH01007497;BC000495;BC001947;BC013854;BC106082;BM678260;CB135964;CH471192;NM_001243646;NM_006110 AAC84141;AAH00495;AAH01947;AAQ13502;ABM84500;ABW03431;BAA86492;BAG38069;EAW52260;EAW52261;NP_001230575;NP_006101;O95400 Hs.202677 1682652;1683747;1690428;1698636;1736598;1736620;1778355 Cda1bg06;D16S2595E;D16S2607E;RH102875;RH78448;RH98473;SHGC-60983 FWP010;LIN1;PPP1R59;Snu40;U5-52K CD2 antigen (cytoplasmic tail) binding protein 2;CD2 antigen cytoplasmic tail-binding protein 2;CD2 binding protein 2;CD2 cytoplasmic domain binding protein 2;CD2 cytoplasmic domain-binding protein 2;CD2 tail-binding protein 2;OTTHUMP00000163230;U5 snRNP 52K protein;protein phosphatase 1, regulatory subunit 59 APPROVED protein-coding ENSG00000169217 1656 05127 604470 REVIEWED 1349208 CD300C CD300c molecule The CMRF35 antigen, which was identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes (Jackson et al., 1992 [PubMed 1349532]).[supplied by OMIM, Mar 2008] 17 17 17 q25.1 69129737 69134772 - 70048842 70053877 - 72537247 72542282 - 6480464 1349532;18535206;15489334;12477932;12456026;12415263;11556966;10746781;19359216;19592130;20656921;22046970;15342556 10871 Q08708 ABBA01028836;AC079325;AF373866;AMYH01008624;BC022279;BF508242;BP298972;CH471099;NM_006678;X66171 AAH22279;AAK64272;ABM82926;ABM86116;CAA46948;EAW89171;NP_006669;Q08708 Hs.2605 1797412 CMRF35_1922 CLM-6;CMRF-35;CMRF-35A;CMRF35;CMRF35-A1;CMRF35A;CMRF35A1;IGSF16;LIR CD300 antigen-like family member C;CLM-6;CMRF-35;CMRF35 antigen;CMRF35 leukocyte immunoglobulin-like receptor;CMRF35-A1;CMRF35-like molecule 6;CMRF35A leukocyte immunoglobulin-like receptor;OTTHUMP00000070874;immunoglobulin superfamily member 16 APPROVED protein-coding ENSG00000167850 19320 09491 606786 VALIDATED 1604243 CD300LB CD300 molecule-like family member b CD300LB is a nonclassical activating receptor of the immunoglobulin (Ig) superfamily expressed on myeloid cells (Martinez-Barriocanal and Sayos, 2006 [PubMed 16920917]).[supplied by OMIM, Mar 2008] 17 17 17 q25.1 69109803 69120103 - 70028908 70039208 - 72517313 72527613 - 6480464 17928527;16920917;16344560;12975309;12477932;19359216;19592130;20237496;20379614;21832049;23072861 124599 A8K4G0;B4DQ71 ABBA01028838;AC079325;AF427618;AK290925;AK298665;AMYH01008624;AY359025;AY646929;BC028091;CH471099;DA673717;NM_174892 A8K4G0;AAH28091;AAN86133;AAQ89384;AAV69612;ABM84511;ABM87832;BAF83614;BAG60833;EAW89169;EAW89170;NP_777552 Hs.313343 1765891 SHGC-149307 CD300b;CLM-7;CLM7;CMRF35-A2;IREM-3;IREM3;TREM-5;TREM5 CD300 antigen like family member B;CD300 antigen-like family member B;CD300 molecule like family member b;CMRF35-like molecule 7;OTTHUMP00000070873;immune receptor expressed on myeloid cells 3;leukocyte mono-Ig-like receptor 5;triggering receptor expressed on myeloid cells 5 APPROVED protein-coding ENSG00000178789 30811 18223 610705 VALIDATED 1601720 CD300LG CD300 molecule-like family member g Members of the CD300 (see MIM 606786)-like (CD300L) family, such as CD300LG, are widely expressed on hematopoietic cells. All CD300L proteins are type I cell surface glycoproteins that contain a single immunoglobulin (Ig) V-like domain (Takatsu et al., 2006 [PubMed 16876123]).[supplied by OMIM, Mar 2008] 17 17 17 q21.31 38632527 38649008 + 39280070 39296521 + 41924516 41940997 + 6480464 17207965;15340161;16876123;12975309;12477932;19359216;19592130;16754720 146894 K7EL06;Q6UXG3 ABBA01028397;AC007993;AC015937;AF427619;AF427620;AK298112;AK309938;AMYH01008409;AY358364;BC025395;CH471178;DC380538;NM_001168322;NM_001168323;NM_001168324;NM_145273 AAH25395;AAN86134;AAN86135;AAQ88730;ADQ31684;BAG60397;EAW51657;EAW51658;EAW51659;EAW51660;NP_001161794;NP_001161795;NP_001161796;NP_660316;Q6UXG3 Hs.147313 1720387;5109795 D17S1504E;RH123945 CLM-9;CLM9;NEPMUCIN;TREM-4;TREM4 CD300 antigen like family member G;CD300 antigen-like family member G;CD300 molecule like family member g;CLM-9;CMRF35-like molecule 9;TREM-4;triggering receptor expressed on myeloid cells 4 APPROVED protein-coding ENSG00000161649 30455 18222 610520 VALIDATED 1603897 CD300LF CD300 molecule-like family member f CD300LF is an inhibitory receptor of the Ig superfamily expressed on myeloid cells. It mediates negative regulatory signals by recruiting SHP1 (PTPN6; MIM 176883) or SHIP (INPP5D; MIM 601582) (Sui et al., 2004 [PubMed 15184070]; Alvarez-Errico et al., 2004 [PubMed 15549731]).[supplied by OMIM, Mar 2008] 17 17 17 q25.1 69283430 69302299 - 70202047 70220703 - 72690452 72709108 - 6480464 17202342;15549731;15489334;15340161;15184070;14702039;14662855;12975309;12477932;20031577;19359216;19592130;20646006;21536801;21832049;23072861;21951326;22043923;22288587 146722 J3KS52;Q8N6D0 ABBA01028833;AC016888;AF251706;AF375480;AF375481;AK092757;AK298752;AK315165;AMYH01008626;AY303545;AY358545;BC028199;BI911496;BM147210;BM923728;CH471099;DQ153249;HI565651;NM_139018 AAH28199;AAM19099;AAP42152;AAP42153;AAP57942;AAQ88909;AAZ81566;BAC03966;BAG37609;BAG60894;CBX47386;EAW89184;EAW89185;EAW89186;EAW89187;NP_620587;Q8TDQ1 Hs.567706 CD300f;CLM-1;CLM1;IREM-1;IREM1;IgSF13;NKIR CD300 antigen like family member F;CD300 antigen-like family member F;CD300 molecule like family member f;CLM-1;CMRF35-like molecule 1;IREM-1;NK inhibitory receptor;OTTHUMP00000070875;immune receptor expressed on myeloid cells 1;immunoglobin superfamily member 13;immunoglobulin superfamily member 13;inhibitory receptor IREM1 APPROVED protein-coding ENSG00000186074 29883 17635 609807 VALIDATED 1352822 CD320 CD320 molecule This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011] 19 19 p13.3-p13.2 8273011 8279239 - 8367011 8373240 - 6480464;7240710 10727470;11256614;19123977;15489334;12975309;12477932;11418631;11318610;11230166;8125298;20524213;20627121;18779389;16712791;20577008;22116453;20972266;21139048;21906983;21987572;22505724 51293 M0R100;M0R1C4;Q9NPF0 ABBA01010852;AC010323;AF161254;AK058014;AK222623;AK315656;AL136652;AL365453;AL365455;AMYH01009439;AY358420;BC000668;BC007083;BC036814;CB141050;CH471139;CR457174;NG_028124;NM_001165895;NM_016579 AAF61850;AAH00668;AAH07083;AAQ88786;ACE87251;BAD96343;BAG38022;CAB66587;CAB97009;CAB97010;CAG33455;EAW68936;EAW68939;NP_001159367;NP_057663;Q9NPF0 Hs.558499 2160910 RH36281 8D6;8D6A;TCBLR 8D6 antigen;CD320 antigen;FDC-SM-8D6;FDC-signaling molecule 8D6;transcobalamin receptor APPROVED protein-coding ENSG00000167775 16692 05929 606475;613646 REVIEWED 1347694 CD33 CD33 molecule 19 19 q13.3 56420147 56435086 + 51728335 51743274 + 1580863;6480464 10611343;3139766;18976728;18794057;18767926;18615103;18331725;18085638;18062779;17662271;16380601;15676214;15489334;15454492;15388576;15342556;12477932;12144127;12063025;11970770;11964282;11943481;11774609;11320212;10556798;10206955;9465907;8702538;8454872;7718872;7505004;1696442;15611322;22382309;21081841;21460841;19572148;19259613;20147975;20237496;20379614;21048031;21460840;21348573;21278227;23623698;21329979;21993666;21906983;21988832;22167654;18051367;19275586 945 B4DF51;P20138;Q546G0 ABBA01068278;AC063977;AJ491319;AK090470;AK293934;AK304810;AK309558;AMYH01009951;AW007749;AY040541;AY162464;BC028152;BP295158;BP303860;CA426969;CA748646;CH471135;JA738577;JA738579;M23197;NM_001082618;NM_001177608;NM_001772 AAA51948;AAH28152;AAK83654;AAO26206;ABM82652;ABM85829;BAC03451;BAG57312;BAG65560;CAD36509;CCF76941;CCF76942;EAW71994;EAW71995;EAW71996;NP_001076087;NP_001171079;NP_001763;P20138 Hs.83731 1797364;2146232;5014051;5021872;5037552;5096560 CD33_2604;D1S3202;D8S2278;D8S2279;RH11526;sY3084 FLJ00391;SIGLEC-3;SIGLEC3;p67 CD33 antigen (gp67);gp67;myeloid cell surface antigen CD33;sialic acid binding Ig-like lectin 3;sialic acid-binding Ig-like lectin 3 protein-coding ENSG00000105383 1659 01165 159590 VALIDATED 1315723 CD34 CD34 molecule The protein encoded by this gene may play a role in the attachment of stem cells to the bone marrow extracellular matrix or to stromal cells. This single-pass membrane protein is highly glycosylated and phosphorylated by protein kinase C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 1 1 q32 206126506 206151306 - 208059883 208084683 - 1580863;6480464 21364636;21527751;15249540;12588680;19437324;19421145;19383239;19323831;19245435;19244164;19194276;19157505;18985821;18922853;18842716;18822690;18818438;18813945;18760838;18757300;18698330;18683236;18604736;18562079;18555590;18511598;18436865;18402976;18317882;18292296;18231114;18223188;18218912;18190781;18187924;18092954;18088553;18085638;18061957;18054528;18048043;18025805;17959862;17923501;17885669;17880611;17786144;17656039;17511030;17505307;17474795;17449014;17429142;17310847;17253947;17229904;17185613;17095623;17090657;17077283;17038503;16830365;16710414;16698689;16698686;16557578;16552335;16415795;16305332;16286998;16278377;16133456;16133360;16051386;15996935;15941859;15752760;15735742;15704650;15569991;15536192;15489334;15277701;15254762;15246162;15242879;15063762;14744088;14718574;14702039;12883699;12865405;16439688;22009965;12827650;12477932;12393741;12393633;12393582;12215337;12161354;12091359;11983914;11798512;11782553;11757722;11389015;10648383;10330415;10233696;9780190;9108388;8889549;8547678;8541536;7678811;2462139;1694174;1693532;1374051;1370171;10373550;21435112;22499302;16398042;21078695;21488087;21808991;21808992;21308741;21440782;20431906;20353905;22395498;20479285;20819778;20181261;20601304;20702587;20653822;20356686;19340613;20724541;18371060;18410526;18798798;19043799;19226222;19372622;19406403;19535348;19640275;19644143;19661015;19746588;19746591;19753521;19762535;19817957;19855080;19952356;20028384;20038636;20067819;20175958;20232575;20378847;20379614;20388788;20639392;20675279;22952296;20403242;20559119;21206086;21318598;21238532;22448926;23473998;22233112;21330473;21670473;21873977;21737787;21333372;21559522;21457155;21762201;21835908;20821344;21330325;22025365;22372906;21710717;21367453;21700895;21054781;21884210;22084125;10337918;12939361;15969628;17261663;17464107;1868864;7525669;9042286;9815891;21651317;22199261;22547906;21276080;21933861;22118372;22249946;21674250;22581926;22574784;22862965;23326517;22163120;23327923;22775584 947 B4DG27;P28906;Q5JTA5 AA022917;AB238231;ABBA01048240;AF202879;AF523361;AF538601;AK091890;AK291529;AK293030;AK294381;AK300835;AL356275;AMYH01001691;BC039146;BX538076;CH471100;CS104354;M81104;M81945;NM_001025109;NM_001773;S53910;S53911 AAA03181;AAA03659;AAB25222;AAB25223;AAF14634;AAH39146;AAM82157;AAN15135;ABM82354;ABM85529;BAE46748;BAF84218;BAF85719;BAG57638;BAG62486;CAD98000;CAJ01226;EAW93458;EAW93459;NP_001020280;NP_001764;P28906 Hs.374990 1722593;1750177;1791440;1791442;1795514;2128275;2178351;2178467 CD34_304;D1S3317;G60378;PMC110554P1;PMC110554P2;RH69685;RH70214;SHGC-112283 CD34 antigen;OTTHUMP00000034733;OTTHUMP00000034734;hematopoietic progenitor cell antigen CD34 APPROVED protein-coding ENSG00000174059 1662 00790 142230 REVIEWED 1350388 CD302 CD302 molecule CD302 is a C-type lectin receptor involved in cell adhesion and migration, as well as endocytosis and phagocytosis (Kato et al., 2007 [PubMed 17947679]).[supplied by OMIM, Aug 2008] 2 2 2 q24.2 154236985 154266601 - 160333610 160362999 - 160625139 160654766 - 6480464 19317456;17947679;15815621;15489334;12824192;12477932;8889548;7584028;7584026;20237496;20861185;16344560;18420585;20921139 9936 Q8IX05 ABBA01004868;AC009961;AF499000;AK125081;AK291279;AK304422;AMYH01011206;AY314007;BC020646;CB240843;CH471058;D14664;DB217404;DB460994;NM_001198763;NM_001198764;NM_014880 AAH20646;AAN77050;AAP79900;AAY14942;BAA03498;BAF83968;BAG65251;EAX11399;NP_001185692;NP_001185693;NP_055695;Q8IX05 Hs.130014;Hs.153563 1335374;1649421;1858014;2119134;2125281;2170991;5037552;7184866;7186547 A007L02;D2S156;D2S2971;D8S2279;RH25260;RH70502;SGC30020 BIMLEC;CLEC13A;DCL-1;DCL1;FLJ43091;KIAA0022;MGC22301 C-type lectin BIMLEC;C-type lectin domain family 13 member A;C-type lectin domain family 13, member A;DEC205-associated C-type lectin 1;OTTHUMP00000205017;type I transmembrane C-type lectin receptor DCL-1 APPROVED protein-coding ENSG00000241399 30843 09906 612246 VALIDATED 1344403 CD3W CD3W antigen, omega polypeptide (TiT3 complex) 918 1676 1346523 CD37 CD37 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It may play a role in T-cell-B-cell interactions. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 19 19 q13.3 54530489 54535675 + 49838677 49843863 + 634638;1580863;6480464 8436422 2466944;17440052;17182550;15489334;15342556;14978098;12477932;11739647;10529602;10405235;10229664;8452817;8119731;3257508;2388030;1879540;19913121;20628086;20709950;22624718 951 B7ZAN3;M0QZ33;M0QZP6;M0R083;M0R1J1;P11049;Q96LM7 AA767248;ABBA01032933;AC010524;AC011450;AK058093;AK301016;AK301328;AL833693;AMYH01009911;BC106752;BC110379;BP309557;BT019851;CH471177;CR541877;HI179050;HI179052;NM_001040031;NM_001774;X14046 AAI06753;AAI10380;AAV38654;BAB71662;BAG62633;BAG62877;CAA32204;CAG46675;CBX53834;CBX53835;EAW52466;EAW52467;EAW52468;NP_001035120;NP_001765;P11049 Hs.166556 1670329;1677558;2144468;5037552 D8S2279;RH93092;STS-AA024912;WI-15345 GP52-40;MGC120234;TSPAN26 cell differentiation antigen 37;leukocyte antigen CD37;leukocyte surface antigen CD37;tetraspanin-26;tspan-26 APPROVED protein-coding ENSG00000104894 1666 01053 151523 REVIEWED 735841 CD38 CD38 molecule CD38 is a novel multifunctional ectoenzyme widely expressed in cells and tissues especially in leukocytes. CD38 also functions in cell adhesion,signal transduction and calcium signaling. [provided by RefSeq, Jul 2008] 4 4 p15 15389029 15459806 + 15779931 15850706 + 1580863;1300048;2307239;2307232;2307231;2307228;2307229;2307243;2307230;2307227;2307233;2307236;2307234;6480464;6907045 16343077;12242463;12488956;19300526;16920929;12111041;16459468;19073639;9754820;18719074;7669044 22236458;22251373;23156678;10777496;8253715;19240243;19117080;19052657;19021053;18940667;18759251;18689273;18674817;18581239;18534062;18519815;18519230;18441094;18431797;18424664;18403265;18341691;18326821;18323656;18322442;18319522;18212246;18178673;18162778;18024373;17931624;17852458;17786980;17684154;17591784;17534928;17440035;17327405;17322278;17287849;17287729;17191385;17173996;17107912;17028452;16932341;16909600;16861223;16841181;16839787;16825496;16642047;16601673;16571778;16568475;16544364;16369895;16329108;16293598;16154090;15964076;15941914;15764953;15759031;15613544;15556942;15489334;15219386;15028729;14990397;14983032;14759258;14749705;14596927;14523017;12917263;12854897;12763926;12718937;12529675;12477932;12461619;12386160;12382646;12368155;12063025;11895784;11836173;11683883;10636863;10559984;10477767;10432444;10376802;9551996;9378973;9074508;8172650;7961800;7835083;7539755;2319135;1471258;12551845;10593874;9263011;21182206;23123429;20638362;20640790;21134381;17875758;18616755;19561535;19635790;19644143;19679010;19817952;19866343;19956559;20237496;20435366;20693316;21153349;21156171;21237436;21212793;23718062;22969159;21330473;21051931;18974118;21692849;21463115;22171799;21330325;21387169;21518472;21893160;20002855;21716207;21765022;21055809;21423200;21528155;21876768;22020217;21933861;22278094;21945028;22002134;22142305;22677461;22338471;22027397;23308177;22955446;22909798;23021410;22721814;22773691;20842205;21085635;22556157;22807456;22336563 952 H0Y950;P28907 AA417096;ABBA01032572;ABBA01032573;ABBA01032574;AC005798;AF001985;AK297592;AK303169;AK313268;AMYH01014021;AMYH01014022;AMYH01014023;AMYH01014024;AMYH01014025;BC007964;CD688069;CH471069;D84276;D84277;D84284;DQ091293;M34461;NM_001775 AAA68482;AAH07964;AAY99634;ABM84110;ABW03578;BAA18964;BAA18965;BAA18966;BAG36077;BAG59979;BAG64268;EAW92745;EAW92746;NP_001766;P28907 Hs.479214 1339600;1674071;1674073;1674904;1776628;1797366;1847350;1848604;2146484 AFM212YG7;CD38_2675;D4S2960;G33802;SHGC-16484;SHGC-31590;SHGC-50197;SHGC-59551;SHGC-67228 T10 ADP-ribosyl cyclase 1;ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase;CD38 antigen (p45);NAD(+) nucleosidase;OTTHUMP00000158633;OTTHUMP00000217743;cADPr hydrolase 1;cd38 antigen;cyclic ADP-ribose hydrolase 1 APPROVED protein-coding 1667 00116 107270 VALIDATED 619554 CD36 CD36 molecule (thrombospondin receptor) The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 q11.2 80069459 80144262 + 80231504 80308593 + 70461;734720;734721;619666;1625347;1600629;68930;1580863;2307219;2307223;2307208;2307222;2307207;2307217;2307220;2307209;2307211;2307213;2307214;2307218;2300254;2307212;2307215;2307226;6480464;6893560;6893487;6893504;6893508;6893492;6893488;6893490;6893529;6893543;6893528;6893494;6893497;6893500;6893541;6893503;6893559;6893495;6893499;6893506;6893507;6893545;6893496;6893502;6893501;6893505;6893542;5490304;6893544;6484679;6893527;6893557;6893534;6893538;6893498;6893531;6893565;6907045;7240710 11889559;2316511;9040027;9916795;15334463;11950861;11175782;7544802;19147991;18305138;19189074;18723424;15231693;19439069;17551591;17127041;16911630;16838191;15221799;18587397;16952981;15737001;18288886;22128087;22718544;19064796;17572512;21803601;22470565;22327076;16741676;21216282;17003426;21765106;20435456;19788606;22648712;19117124;20037584;21412229;20134099;18322255;18067591;20950462;20855355;19264766;19606481;18483551;22615812;21255096;21195211;21718801;17367535;20056742;16197457;16014033;20360550;16563568;19342682 15242332;15167446;15132977;15064117;15059642;15050739;15048167;14729862;14719070;14702039;14699114;14684613;12971464;12968020;12947091;12801610;12732844;12716848;12716760;12690205;12679131;12664607;12618277;12606036;12598312;12576469;12516552;12506336;12496189;12479587;12477932;12376530;12224819;12169456;12164325;12105195;12031598;12023894;11872368;11867619;11834946;11718687;11714819;11686358;11668637;11602321;11377606;11238109;10890433;10772961;10772928;10487979;10391209;9568716;9555943;9334230;9171348;8798390;8696942;8561798;7693552;7686693;7682812;7533783;7521304;7505064;7503937;2473841;1384492;10772654;2468670;17416590;7518447;18029348;2468669;1715582;7693034;19489681;19413744;19403559;19369259;19185504;19175917;19156623;19144874;19136129;19116451;19088437;19065049;19055786;19016618;18981136;18844973;18827892;18671254;18660489;18582374;18558917;18550349;18514070;18497330;18462250;18458151;18441389;18353783;18299339;18285332;18263877;18053692;18035074;18000176;17924847;17905828;17900273;17888147;17854769;17710630;17673938;17619827;17581812;17573918;17496152;17440173;17412877;17380316;17346709;17311893;17084382;17071479;17067553;16908526;16887969;16880211;16870193;16670819;16670153;16645727;16622019;16556603;16515687;16453284;16344560;16299313;16276419;16263699;16219805;16099393;16037098;16002039;15979077;15978955;15933580;15915335;15897321;15860439;15780035;15735450;15677505;15671915;15489334;15478802;15342556;15339698;15282206;21454644;21462325;22795952;20946164;20408759;21383152;20637247;20935172;20966904;20966915;20629037;20664056;20684828;20113368;20023206;20414830;17716309;19190027;19203752;19350111;19454037;19578796;19640849;19667111;19718657;19740737;19864601;19865095;19876004;19893500;19948975;19996318;20075072;20139232;20157514;20223461;20416077;20459687;8467233;20408954;19913121;20333725;20485444;20628086;20660057;20722468;20701912;20939828;21228269;21270117;22653277;21091228;21203512;21390226;21437286;21346626;21378271;20947105;21250778;21478428;21262584;21808142;21835916;22869067;22909232;23603908;21547502;20015873;21854984;22050542;21727988;21890620;21696539;22240721;23213279;21949655;22247259;22106368;22423221;22430143;22047506;22075538;22113854;22275803;21155254;21832049;23427331;21145461;22588808;22890011;23206327;23233532;21988832;23119050;22763563;23249574;22558273;22687273;22993001 948 A4D1B1;D9IX66;D9IX68;D9IX69;E7ERZ9;E7EU05;E7EVU1;E7EWI4;E7EX47;E9PC45;E9PJX8;E9PLT1;H0YEE7;Q9BZN4 AA846141;AACC02000015;ABBA01058054;ABBA01058055;ABBA01058056;AC073182;AC073850;AC124834;AF300625;AF300626;AF300627;AF300628;AF300629;AF300630;AF300631;AF300632;AF300633;AF300634;AF300635;AF300636;AF300637;AF300638;AF300639;AF300640;AK057690;AK096858;AK129899;AK300101;AK312920;AL596924;AMYH01017645;AY095373;BC008406;BP258762;BP259746;CH236949;CH471091;CR749465;DA566475;DA857400;DC338512;HC025784;HM217020;HM217021;HM217022;HM217023;HM217024;HM217025;HM217026;L06849;L06850;M24795;M98398;M98399;NG_008192;NM_000072;NM_001001547;NM_001001548;NM_001127443;NM_001127444;S60720;S67044;S67532;Z22924;Z32770 AAA16068;AAA35534;AAA58412;AAA58413;AAB28992;AAB46390;AAD13993;AAD14933;AAG60624;AAG60625;AAG60626;AAG60627;AAG60628;AAG60629;AAG60630;AAG60631;AAG60632;AAG60633;AAG60634;AAG60635;AAG60636;AAG60637;AAG60638;AAG60639;AAH08406;AAM14636;ABM83988;ABM87313;ADI80540;ADI80541;ADI80542;ADI80543;ADI80544;ADI80545;ADI80546;BAG35765;BAG53380;BAH13209;CAA80504;CAA83662;CBH19823;EAL24191;EAW76996;EAW76997;EAW76998;EAW76999;EAW77000;EAW77001;EAW77002;EAW77003;EAW77004;EAW77005;NP_000063;NP_001001547;NP_001001548;NP_001120915;NP_001120916;P16671 Hs.120949 1657244;1678015;1684461;1684616;1701608;1726447;1742879;1752515;2136266;2136985;2142754;2149138;2158440;2170412;2176525;2177522;2179521;2182921;5021872;5022578;5109663 CD36;D1S1423;D7S2067E;D7S2791;D7S2891;G62603;GDB:212872;GDB:3755118;RH104443;RH36282;RH48982;RH69590;RH70387;RH93476;RH94289;SHGC-106381;SHGC-58145;STS-T89178;STS-W90039;WI-16804;sY3084 BDPLT10;CHDS7;FAT;GP3B;GP4;GPIV;PASIV;SCARB3 CD36 antigen (collagen type I receptor, thrombospondin receptor);GPIIIB;OTTHUMP00000207872;OTTHUMP00000207874;OTTHUMP00000207879;OTTHUMP00000207881;OTTHUMP00000207938;OTTHUMP00000229733;PAS IV;PAS-4 protein;cluster determinant 36;fatty acid translocase;glycoprotein IIIb;leukocyte differentiation antigen CD36;platelet glycoprotein 4;platelet glycoprotein IV;scavenger receptor class B, member 3 APPROVED protein-coding ENSG00000135218 1663 01430 173510;608404;610938;611162 REVIEWED 1319442 CD3E CD3e molecule, epsilon (CD3-TCR complex) The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008] 11 11 q23 117680662 117692100 + 118175295 118186890 + 1580863;2314179;6480464;6484113;6907045;7240710 16628253 12110186;11186279;9485181;9886373;1370449;8530500;12567487;8490660;11390434;11048639;11827988;15489916;17652306;18667496;18555270;18504423;17668204;17630354;17507663;17176095;17023417;16412509;16308105;16094384;15592455;15546002;15534202;15489334;15342556;15144186;14757743;14523017;12812314;12734335;12626537;12522270;12499387;12477932;12410792;11855827;11689561;11439187;11115514;10722370;10373416;9780176;9743208;9698567;9687533;9582308;9510190;9378960;9312149;9120393;9045614;8920877;8809126;8626450;8366117;7761456;7699329;7541024;7517794;7514106;7500045;7499176;3478717;3267235;3012357;2859526;2138083;2111780;1671006;1387664;1385321;1832084;7774645;8145026;8125527;7506554;1979339;17001685;9263011;7539755;16777597;11349123;16461343;19616027;19724882;20237496;20478055;8176201;19190244;19913121;20628086;23166358;21203507;21669053;21669059;21980389;22401598;15123239;23216707;17632570;17928336;18473783;18541215;18555888;18808677;19726522;19759518;20012528;20179761;20594957;20824090;22505724;22911005;17213291 916 E9PSH8;P07766 ABBA01039714;AK292612;AK301255;AK311641;AMYH01004067;AP001582;BC049847;BI910359;BP366535;CH471065;M23323;NG_007383;NM_000733;X03884 AAA52295;AAH49847;BAF85301;BAG62822;CAA27516;EAW67360;EAW67361;EAW67362;EAW67363;EAW67364;NP_000724;P07766 Hs.3003 1773556;2185099 D11S4380;RH18074 FLJ18683;T3E;TCRE CD3-epsilon;CD3e antigen, epsilon polypeptide (TiT3 complex);OTTHUMP00000234559;OTTHUMP00000234560;T-cell antigen receptor complex, epsilon subunit of T3;T-cell surface antigen T3/Leu-4 epsilon chain;T-cell surface glycoprotein CD3 epsilon chain APPROVED protein-coding ENSG00000198851 1674 08923 186830;608971 REVIEWED 736987 CD3D CD3d molecule, delta (CD3-TCR complex) The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq, Feb 2009] 11 11 q23 117714999 117718669 - 118209789 118213459 - 1580863;6480464;6484113;6907045;7240710 9485181;1831653;11048639;11827988;15489916;17652306;19222422;19056690;18803280;17923503;17176095;17023417;16888097;16412509;16094384;15778375;15592455;15546002;15489334;15144186;15028279;14602880;12522270;12477932;12410792;12215456;10722370;9743208;9582308;9510190;9045614;8809126;8621641;8278814;8020575;7719941;7517794;7495730;6095101;3488209;3478717;2939461;2859526;2826124;2540970;2138083;2111780;1826255;1385321;1372642;1832084;7774645;8145026;8125527;7506554;1979339;17001685;9263011;7539755;16777597;15534202;12604782;17502376;2017177;20660709;17872946;19724882;20237496;20478055;8176201;16407162;20511557;15331598;21670311;21984702;16822850;21669053;21669059;21926461;19942855;22401598;23336327;17632570;17928336;18473783;18541215;18808677;19726522;19759518;20012528;20179761;20594957;20824090;22103833;22505724;22911005 915 B0YIY4;E9PMT5;H0YE18;P04234 ABBA01039712;AK311971;AMYH01004068;AP001582;BC039035;BC070321;CD014058;CH471065;EF444964;JN392069;M12727;NG_009891;NM_000732;NM_001040651;X01451;X03934 AAA51792;AAH39035;AAH70321;ACA05962;AEQ93556;BAG34910;CAA25683;CAA27573;EAW67365;EAW67366;NP_000723;NP_001035741;P04234 Hs.504048 1741253;2173268;5124448;7187909 CD3D;GDB:179879;RH93888 CD3-DELTA;T3D CD3 antigen, delta subunit;CD3 delta;CD3d antigen, delta polypeptide (TiT3 complex);OKT3, delta chain;OTTHUMP00000234561;OTTHUMP00000234562;OTTHUMP00000234563;OTTHUMP00000234564;T-cell receptor T3 delta chain;T-cell surface glycoprotein CD3 delta chain;cd3 antigen delta polypeptide APPROVED protein-coding ENSG00000167286 1673 01730 186790;608971 REVIEWED 1317072 CD3G CD3g molecule, gamma (CD3-TCR complex) The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008] 11 11 q23 117720311 117729261 + 118215059 118224497 + 1580863;6480464;6484113;6907045;7240710 11186279;9485181;12794121;12407027;11048639;11827988;15489916;17652306;19056690;18815285;17923503;17822534;17176095;17023417;16916653;16888097;16344560;16094384;15879122;15778375;15489334;15459203;12477932;12410792;12374807;10722370;9743208;9510190;9045614;8809126;8636209;8125298;7533164;7517794;3478717;3112151;2944745;2826124;2547833;2540970;2138083;2111780;1826255;1709425;1635567;1535555;1387664;1385321;1832084;2139676;7774645;8145026;8125527;7506554;1979339;17001685;9263011;7539755;16777597;15638726;11298321;9582308;22731821;20511557;20660709;19536290;19724882;19860678;19898481;20237496;20478055;23336327;21670311;21984702;21669053;21669059;21764047;16888650;22401598;22482414;23348211;17632570;17928336;18051367;18473783;18541215;18808677;19726522;19759518;20012528;20179761;20594957;20824090;22505724;22911005 917 A8MUH3;B0YIY5;J3KNA5;P09693 AB583162;ABBA01039712;AK223314;AK310578;AK310622;AK313966;AK315895;AMYH01004068;AP001582;BC069685;BC113830;CH471065;DB116263;DC378393;EF444965;NG_007566;NM_000073;X04145;X06026 AAI13831;ACA05963;BAD97034;BAF98786;BAG36681;BAJ16153;CAA27764;CAA29428;EAW67368;NP_000064;P09693 Hs.2259 1742557;5016851;5037552;5106272;5109281 D11S4362;D1S1425;D8S2279;GDB:197879;RH80031 CD3-GAMMA;FLJ17620;FLJ17664;FLJ79544;FLJ94613;MGC138597;T3G CD3g antigen, gamma polypeptide (TiT3 complex);CD3g molecule, epsilon (CD3-TCR complex);OTTHUMP00000234565;T-cell antigen receptor complex, gamma subunit of T3;T-cell receptor T3 gamma chain;T-cell surface glycoprotein CD3 gamma chain APPROVED protein-coding 1675 07037 186740 REVIEWED 1606023 CD3EAP CD3e molecule, epsilon associated protein 19 19 q13.3 50601307 50605864 + 45909467 45914024 + 6480464 9426281;10373416;19396015;19257887;18289367;17131345;16964243;16817948;16809778;16806233;16690207;15936590;15489334;15302935;15226435;14743216;12477932;19692168;19734419;19773279;21046104;19214185;23145133;22751105;23624123;22939629;18029348;17620599;22335888;19471022;21693764;21884979 10849 K7EMH2;K7EQC8;O15446 ABBA01040926;AC092309;AF017633;AK292183;AMYH01009851;BC009705;BC028109;BC038992;BC046141;BC054044;BC065251;BC108889;CH471126;NG_015839;NM_012099;U86751 AAB68608;AAD41158;AAH09705;AAH38992;AAH46141;AAH54044;AAI08890;ABZ92467;BAF84872;EAW57346;EAW57347;NP_036231;O15446 Hs.710495 1741675;2180884;5014051;5015861;5022576;5037552;5109281;7185938 D10S16;D1S1361;D1S1425;D8S2278;D8S2279;GDB:181915;STS-R48186 ASE-1;ASE1;CAST;MGC118851;PAF49 A34.5;CD3 epsilon associated protein;CD3-epsilon-associated protein;CD3E-associated protein;CD3e antigen, epsilon polypeptide associated protein;DNA-directed RNA polymerase I subunit RPA34;RNA polymerase I-associated factor PAF49;antisense to ERCC 1;antisense to ERCC-1 protein protein-coding ENSG00000117877 24219 00125 107325 VALIDATED 1349824 CD46P1 CD46 molecule, complement regulatory protein pseudogene 1 1 1 1 q32 181048916 181061150 + 207825892 207826080 + 207818429 207830664 + 1740338 4182 ABBA01048243;AL137789;AMYH01001690;M73721;M73722;M73723;NG_008252 1695780;1770475;2152479 SHGC-53730;SHGC-76279;SHGC-82542 CD46P;MCPL;MCPL1 APPROVED pseudo 6959 INFERRED 735603 CD4 CD4 molecule This gene encodes a membrane glycoprotein of T lymphocytes that interacts with major histocompatibility complex class II antigenes and is also a receptor for the human immunodeficiency virus. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, and granulocytes. It is also expressed in specific regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Aug 2010] 12 12 p13.31 6768912 6800237 + 6898638 6929976 + 1580863;6480464;6484113;6907045;7240710 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920 B0AZV7;B4DT49;F5GYA9;F5H480;P01730 ABBA01017655;ABBA01017656;ABBA01017657;ABBA01017658;ABBA01017659;AC125494;AK300052;AK303968;AK308344;AK310652;AK310677;AK310687;AK310750;AK311495;AK312828;AK315898;AK316461;AK316462;AMYH01004208;BC025782;BT019791;BT019811;BX378810;CA305950;CH471116;DA384217;DA463597;DA619688;DA639898;DB123455;DQ012936;M12807;M35160;NG_027688;NM_000616;NM_001195014;NM_001195015;NM_001195016;NM_001195017;S79267;U40625;U47924;X87579 AAA16069;AAA35572;AAB02789;AAB35273;AAB51309;AAH25782;AAV38594;AAV38614;AAY22175;ABM82978;ABM86172;BAF98789;BAG35684;BAG61861;BAG64892;BAH14832;BAH14833;CAA60883;EAW88738;EAW88739;NP_000607;NP_001181943;NP_001181944;NP_001181945;NP_001181946;P01730 Hs.631659 1334972;1741339;1742287;1742863;1743991;1766911;1792606;1795520;2125009;2176194;5016478;5020274;5022200;5022578;5022651;5109281;5117863;5117865 A007D38;CD4_1639;D11S2921;D12S1623;D1S1423;D1S1425;GDB:180736;GDB:195161;GDB:212646;GDB:384737;GDB:434012;GDB:625824;GDB:625827;L18426;L18441;PMC155019P1;SHGC-12737;SHGC-152382 CD4mut CD4 antigen (p55);CD4 receptor;OTTHUMP00000238897;T-cell surface antigen T4/Leu-3;T-cell surface glycoprotein CD4;cd4 antigen APPROVED protein-coding ENSG00000010610 1678 01740 186940;613949 REVIEWED 1604657 CD40 CD40 molecule, TNF receptor superfamily member 5 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been found to be essential in mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 20 20 q12-q13.2 44180313 44191791 + 44746906 44758384 + 4892277;5132271;5132272;5132270;5132273;4144188;5132268;5132274;5132269;5490522;5490530;5490534;5490302;5490303;5490305;5490532;5490975;5490544;5508169;5490974;5490300;5490971;5490590;5508171;5491181;2313422;5490524;5491180;1599479;5490968;5490533;5490972;5490304;5490523;5490541;5490543;5490977;5490301;5490306;6480464;6907045;7240710;7248435;7248441;7248442;7248724;7248754;7248709;7248749;7248723;7248438;7248440;7248710;6893375;7248418;7248721;7248735;7248753;7248436;7248425;7248429;7248419;7248599;7248755 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21866398;22722990;22904686;12223522;8605945;2475341;9468137;12761501;10748139;16893496;19494299;19422822;19421221;19419774;19397878;19336218;19272596;19268365;19258923;19246174;19180477;19171874;19118532;19110536;19099972;19023113;19018001;19002156;18996438;18849075;18835787;18796631;18794853;18755875;18713981;18705404;18694960;18676680;18669876;18636124;18606651;18603231;18593367;18591382;18552209;18548529;18487509;18446002;18445342;18437082;18289643;18287517;18253927;18217399;18159101;18097708;18064390;18037736;17999420;17989345;17967972;17949264;17925605;17904146;17805323;17786592;17721998;17703412;17678876;17599408;17553307;17534894;17459878;17446175;17376892;17344890;17319699;17302995;17255560;17237417;17237414;17202327;17199090;17154264;17077013;17043147;17026470;17012138;16964404;16936191;16901543;16864989;16806233;16756465;16644731;16504636;16429118;16357329;16356539;16356505;16341674;16279844;16260598;16246299;16221206;16213477;16149136;16142355;16127217;16091748;16033859;15994291;15883744;15838273;15817705;15808676;15795333;15753667;15708600;15690148;15670770;15634933;15578091;15489334;15375484;15367912;15340161;15339846;15331443;15307939;15301860;15291139;15290728;15272925;15187129;15153777;15113760;15102691;15078922;15069543;15001471;14991615;14976003;14764664;14747545;14742996;14699489;14695541;14687897;14665433;14651941;14644094;14633128;14617752;14612943;14611700;14568936;14557256;14517219;14515262;12905492;12893749;12874247;12857749;12855571;12829914;12810728;12799532;12778475;12764232;12686591;12676820;12672076;12637493;12626576;12624779;12604404;12593727;12584544;12576441;12576427;12510151;12507785;12488500;12477932;12460235;12437073;12433678;12356871;12324477;12220533;12209092;12209089;12207328;12165546;12149421;12122011;12093796;12089335;12070030;12039918;12011072;12005438;11997318;11981834;11891278;11877469;11876766;11870634;11867568;11830590;11830495;11826760;11817328;11792123;11780052;11751974;11751963;11714804;11714772;11676606;11562359;11268217;11172023;11160013;11129651;11042507;10984535;10764746;10741409;10647992;10601289;10600748;10514012;10411888;10395671;10092834;10075662;9990007;9933087;9718306;9671306;9642260;9624004;9605317;9511754;9432981;9144479;9133417;9050882;9037712;8790348;8562382;8125298;7687385;7544915;7543281;7538666;7533327;7530216;7527023;7522634;7518550;7516669;7516405;3487090;2998589;1701063;15749123;11087201;7541827;15611322;9020361;9384571;8906799;17353931;10847592;10352240;20453842;22532139;22429276;21200133;12140561;17225862;17687557;17884785;18495129;19170196;19183933;19448410;19475450;19479954;19525955;19573080;19592656;19622350;19625176;19644859;19674979;19692168;19735272;19751723;19773279;19834879;19889024;19906293;19911254;19948975;20049410;20058617;20067533;20081875;20118277;20137882;20219786;20233754;20237496;20303602;20368992;20416077;20439292;20444755;20503287;20504251;19435719;20593977;21071692;20371189;20107176;21041727;20127135;19913121;20552594;20577873;20628086;20650312;20682661;20726323;20568250;20716621;20797713;21054240;12885753;20634492;20702779;21138731;19221099;21282461;21383499;19086656;21285457;22863718;23334419;23463508;20842056;21103345;21337550;19593445;22851860;23002440;23092922;21223957;19667091;9168896;21415255;21741080;21832282;22965071;23509150;23824909;21403646;22087016;21567389;21912605;21976957;20467921;22706687;22731751;23000501;23419881;22783574;22219050;22335531;22406982;22010829;21999662;22445357;22552529;22564607;22564647;22077624;11279055;21813202;22058328;22142817;22190364;22295117;22310643;22446961;22446962;22302395;22461623;22547704;17878343;20614026;21833088;7859281;20676093;22814930;23166616;23528588;23528589;23128233;22687258;23257401;17312171;17918746;19275586;19458171;20012522;20449947;21239998;21922073;22558273;22888137;22820189;22952582;15485634;22645426;22505696 958 H0YE23;P25942 AB209660;ABBA01052674;AJ300189;AK222896;AL035662;AMYH01011940;AMYH01011941;AY225405;AY504960;BC012419;BC064518;BM761221;BT019901;CH471077;CS095651;CS095653;CS097318;CS097320;CS097717;CS097719;CS103051;CS103053;CS362569;CS362571;CS415595;CS415597;CS415607;CS415609;CS458150;CS458152;CS458177;CS458179;EF064754;FB293281;FB293283;GM980682;GM980684;HB386506;HB386508;HC324854;HC324856;HC728083;HH930542;HH930544;HI594042;HI594044;HI594054;HI594056;HI651118;HI651120;HI921882;HI921884;JA086558;JA086560;NG_007279;NM_001250;NM_152854 AAH12419;AAH64518;AAO43990;AAR84238;AAV38704;ABK41937;ABM82730;ABM85914;BAD92897;BAD96616;CAC29424;CAJ00027;CAJ00028;CAJ00033;CAJ00034;CAJ00124;CAJ00125;CAJ00728;CAJ00729;CAL31951;CAL31952;CAL47757;CAL47758;CAL47760;CAL47761;CAL99221;CAL99222;CAL99226;CAL99227;CAQ64629;CAQ64630;CAX20923;CAX20924;CAZ64457;CAZ64458;CBJ55369;CBJ55370;CBL93995;CBX32768;CBX32769;CBX55113;CBX55114;CBX55116;CBX55117;CBX89251;CBX89252;CBY65289;CBY65290;CCA63957;CCA63958;EAW75757;EAW75758;EAW75759;EAW75760;EAW75761;EAW75762;EAW75763;NP_001241;NP_690593;P25942 Hs.472860 1299905;1688578;1793690;1794836;1794838;1794840;1794842;1794844;1794846;1794848;1794850;1794852;1794854;2129364;5017977 CD40_s5;D19S247;PMC259134P3;PMC60102P1;PMC60102P10;PMC60102P11;PMC60102P2;PMC60102P3;PMC60102P4;PMC60102P5;PMC60102P6;PMC60102P7;PMC60102P9;RH93708;STS-R49884 Bp50;CDW40;MGC9013;TNFRSF5;p50 B cell surface antigen CD40;B cell-associated molecule;B-cell surface antigen CD40;CD40 antigen (TNF receptor superfamily member 5);CD40 type II isoform;CD40L receptor;OTTHUMP00000031699;OTTHUMP00000031700;OTTHUMP00000031701;nerve growth factor receptor-related B-lymphocyte activation molecule;tumor necrosis factor receptor superfamily member 5;tumor necrosis factor receptor superfamily, member 5 APPROVED protein-coding ENSG00000101017 11919 00178 109535;606843 REVIEWED 1352959 CD40LG CD40 ligand The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq, Jul 2008] X X q26 135558002 135570215 + 135730336 135742549 + 1599480;2314209;2314214;2314219;2314220;2314212;2314208;2314211;2314188;2314223;5490978;5491182;5490522;5490531;5490973;5508170;5508171;5490970;5491179;5490592;5490598;5490591;5490596;5490529;5490547;4891397;5490594;5490593;5490597;5490305;5024938;5490298;5490548;5491181;5490595;5490306;2313413;2313422;6480464;6484113;6907045;7240710;7248426;7248421;7248422;7248722;7248439;7248719;7248601;7248714;7248750;7248598;7248438;7248420;7248443;7248720;7248430;7248713;7248436;7248437;7248600;7248428;7248433;7248599;7248423;7248427 7678782;17635572;16423632;15716285;15448088;16505242;18756582;16752185;15817881;14963650;20378141;16611325;21914625;20659085;20490890;15458437;12388354;20660932;19035311;21817098;21177803;20006362;21411717;20705757;20348957;20400704;21485068;21543760;21331754;21240009;20618701;21841160;20170788;17188497;21414847;21211656;19016771;16716410;20726330;21817131;19889873;21303961;15693003;10949194;12969144;11751940;23819214;15016184;15780086;22948742;15102009;7564113;17911451;12244161;16494885;16361570;13130474;18787388;17314326;14569091;19784793;19019166 20981468;22024720;21406105;22984080;17319699;17237447;17237414;17106168;17103120;16987056;16963006;16936191;16888032;16797372;16780932;16777115;16741250;16570157;16545138;16504636;16498500;16464740;16396693;16393964;16380494;16378074;16311023;16221206;16186418;16182391;16149136;16014560;15872081;15868137;15808676;15795254;15753667;15741223;15674425;15489334;15345520;15315967;15307939;15302794;15277394;15249506;15191945;15153777;15128830;15115688;15111558;15069543;15067037;14991615;14976003;14962968;14764664;14760083;14742996;14734771;14687897;14662879;14623801;14617752;14611725;12955358;12952351;12874247;12764232;12742991;12738634;12718765;12707303;12699408;12695287;12676191;12672403;12626576;12605316;12592374;12574344;12563087;12509450;12477932;12460235;12427285;12423681;12379582;12352896;12223522;12209602;12207328;12192302;12140747;12117990;12117904;12042657;12011072;11986259;11981870;11978801;11964311;11922919;11918631;11902332;11902141;11891278;11875495;11865444;11826760;11818376;11817328;11816717;11801691;11801648;11792121;11751888;11714772;11676606;11525169;11493450;11358428;11297035;11270473;11123305;11042507;10647992;10510350;9873085;9746782;9605317;9150729;8907262;8889581;8626375;8589998;8550833;8094231;7999797;7907793;7717401;7688562;7679801;7679206;7586644;7543281;7537298;7532185;7516405;1427881;1385114;1281209;1280226;14764743;12960257;7541827;16429138;18641297;10085035;9468137;8605945;12697681;9922218;7678552;16893496;12646674;19541004;19494299;19470255;19422822;19421221;19318922;19282610;19272596;19258923;19232335;19170966;19120902;19101003;19056482;19023113;18946203;18945879;18849075;18835787;18827186;18812691;18714535;18713981;18661398;18658029;18652769;18641098;18603231;18593367;18554599;18548529;18481160;18373164;18349125;18349065;18339317;18281372;18260168;18217399;18196935;18180380;18156495;18093816;18081708;18054068;18051214;17947713;17917707;17901373;17893433;17879023;17845713;17805323;17716773;17703412;17675236;17619839;17562816;17469136;17459878;17433826;17414714;17403203;17392362;17372166;17360404;22492089;22532139;22750225;21162213;19404646;20471683;20505142;20505144;20980002;20133813;20230421;20811042;20811715;21071692;20153702;19913121;20485444;20577873;20628086;20107176;20881665;20980629;17225862;17884785;18719603;19201484;19520616;19564823;19575287;19590499;19656553;19675172;19707993;19723899;19735272;19755790;19811271;19859091;19889024;19895673;19896127;19906505;19948975;20008286;20026377;20039299;20048211;20071030;20174757;20211016;20459687;20503287;17207965;20456428;20676835;20734064;12885753;20301576;20634492;21138731;19086656;21075431;21285457;20701912;20832064;20846521;21242519;21337550;19221099;20978895;21143381;23325890;22905203;22932804;20457264;21415255;21605114;22608210;22965071;21696538;21898485;21967264;21567389;21151195;22151659;22234746;22295117;22440854;22702645;22731751;23000501;22219050;19184537;22058328;22116092;21491121;22231486;22512415;22552529;21616491;22150414;20629665;22298164;21788945;22139839;22100896;22196954;22193914;22461623;22593611;22802415;23241952;23289765;23479226;23002440;22689014;17312171;17918746;19449444;19859083;20380698;20535218;21239998;21357544;22889643;22820189;23039889 959 P29965;Q3L8U2 ABBA01055928;ABBA01055929;AF529195;AK292637;AL135783;AMYH01023049;AMYH01023050;AY197739;BC071754;BC074950;CH471150;CQ859998;CS398757;CS458154;CS458181;D31797;D50607;DQ119668;EF064753;FN298241;GN344043;HI658768;L07414;NG_007280;NM_000074;X67878;X68550;X96710;Z15017 AAA35662;AAH71754;AAH74950;AAP37943;AAQ09090;AAZ23548;ABK41936;ADQ32018;BAA06599;BAF85326;CAA48077;CAA48554;CAA78737;CAH25976;CAL44882;CAL99223;CAL99228;CAX65629;CAY55957;CBY45341;EAW88462;EAW88463;NP_000065;P29965 Hs.592244 1701736;1702908;1728931;1743497;1743499;1743501;1743503;1743505;1793688;1794948;1796984;2127633;2140476;2159326;5022808;5120490 CD40LG;Camk2g;DXS1256;DXS8200;G10615;GDB:204469;GDB:340965;GDB:340969;GDB:340972;GDB:340979;GDB:340983;GDB:340987;PMC259134P1;PMC86001P3;RH17600;TNFSF5_272 CD154;CD40L;HIGM1;IGM;IMD3;T-BAM;TNFSF5;TRAP;gp39;hCD40L CD40 antigen ligand;CD40 ligand;CD40-L;OTTHUMP00000024130;OTTHUMP00000024131;T-B cell-activating molecule;T-cell antigen Gp39;TNF-related activation protein;tumor necrosis factor (ligand) superfamily member 5 APPROVED protein-coding ENSG00000102245 11935 02311 300386;308230 REVIEWED 1352782 CD48 CD48 molecule This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 1 1 q21.3-q22 158915160 158948209 - 160648536 160681641 - 1580863;6480464 12356317;2828034;1693656;11313396;19494291;18617371;17599905;17222190;16866884;16803907;16785501;16710414;16585556;16081768;15760905;15489334;15356144;12496412;12477932;12072193;12007789;11313125;11163399;10359122;9834056;9418191;8650218;8125298;8104794;1999351;1999350;1847502;1827826;16169070;16049493;20164429;20237496;20453000;18296487;19913121;20628086;20833258;11513145;22495247;23225218;23128233 962 P09326;Q8MGR0 ABBA01016611;ABBA01016612;AK225636;AK310624;AK310744;AL121985;AMYH01001453;BC016182;BC030224;BG505217;BT019813;CH471121;CR457012;M37766;M59904;M63911;NM_001256030;NM_001778;X06341 AAA35602;AAA36211;AAA62834;AAH16182;AAH30224;AAV38616;ABM87315;ABW03873;CAA29647;CAG33293;EAW52705;NP_001242959;NP_001769;P09326 Hs.243564 1846795;2106977;2130891 CD48_3159.2;D1S2413;RH45550 BCM1;BLAST;BLAST1;MEM-102;SLAMF2;hCD48;mCD48 B-lymphocyte activation marker BLAST-1;BCM1 surface antigen;CD48 antigen;OTTHUMP00000025680;SLAM family member 2;TCT.1;leukocyte antigen MEM-102;signaling lymphocytic activation molecule 2 APPROVED protein-coding ENSG00000117091 1683 00177 109530 REVIEWED 737350 CD47 CD47 molecule This gene encodes a membrane protein, which is involved in the increase in intracellular calcium concentration that occurs upon cell adhesion to extracellular matrix. The encoded protein is also a receptor for the C-terminal cell binding domain of thrombospondin, and it may play a role in membrane transport and signal transduction. This gene has broad tissue distribution, and is reduced in expression on Rh erythrocytes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010] 3 3 q13.1-q13.2 109244631 109292625 - 107761941 107809935 - 1580863;6480464;6907045 22451913;15383453;15700281;8294396;7998989;16691243;10429193;19632178;19144568;18979398;18954403;18855618;18675774;18657508;18524990;18523271;18497546;18332220;18186923;17572512;17363705;17360380;17098740;16951312;16697668;16581280;16291597;15917238;15880429;15842360;15725479;15498560;15489334;15359629;15292185;14966135;14759258;14747477;14702039;14551146;12902472;12736272;12690108;12646616;12609828;12477932;12393467;12393442;12370491;12351399;12218055;12176912;11980922;11907074;11509594;11454874;11331301;11306274;10549293;10545994;10397731;10037797;9872987;9169439;8563755;8550562;7691831;2277087;19322201;22511785;1394148;22215724;22734047;20033473;10469599;20826801;20364320;20675593;22815286;20923780;19360900;19628875;19661269;19748659;19952055;20705613;20299253;22535707;22641236;22990013;21178137;21211546;21343308;21203512;19794081;23011546;22427202;22014686;21139048;21906983;22079249;19805454;23206327;23275336;22874555;22505724;22870271 961 H0YC40;H7BYS8;Q08722 ABBA01061707;AC012020;AF540016;AI701980;AK096670;AK124152;AK289813;AL832675;AMYH01013380;BC010016;BC012884;BC037306;BC042889;BC045593;BC053959;BI753986;BT006907;BX640889;CB995865;CH471052;NM_001777;NM_198793;X69398;Z25521 AAH10016;AAH12884;AAH37306;AAP35553;AAQ11189;ABM81682;ABM82737;ABM84846;BAF82502;CAA49196;CAA80977;EAW79732;EAW79733;EAW79734;NP_001768;NP_942088;Q08722 Hs.446414 1646572;1658358;1660149;1689508;1724143;1797368;1847659;2114317;2130574;2132545;2135056;2143414;2143416;2170203;5014051;5037552;5126270 CD47_2027;D3S3910;D3S4195;D3S4214;D8S2278;D8S2279;RH121206;RH78419;RH78668;RH94184;SHGC-12537;SHGC-77177;SHGC-77187;SHGC-77188;SHGC-77192;STS-X69398;STS-Z25521 IAP;MER6;OA3 CD47 antigen (Rh-related antigen, integrin-associated signal transducer);CD47 glycoprotein;OTTHUMP00000041152;OTTHUMP00000041153;Rh-related antigen;antigen identified by monoclonal antibody 1D8;antigenic surface determinant protein OA3;integrin associated protein;integrin-associated protein;integrin-associated signal transducer;leukocyte surface antigen CD47 APPROVED protein-coding ENSG00000196776 1682 03017 601028 REVIEWED 1351887 CD57 CD57 antigen 964 1687 1346662 CD46 CD46 molecule, complement regulatory protein The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010] 1 1 q32 205992025 206035481 + 207925383 207968861 + 1580863;2293547;2306066;2306067;2293548;2306065;2293549;2293551;2293550;6480464;6483459;6483463;6483465;6483466;1600479;6483457;6483461;6483458;6483460;6483464;6483467;6907045;7240710 15378282;15726105;12183422;10637067;17214367;9358772;7532466;10744069;21445332;19456309;16948860;12869763;16425382;22247341;21852528;21573156;21177319;17594162;12055630 7884872;7708671;7691939;7534417;3260937;2298462;2050389;1953714;1717583;1601037;2521358;23086448;8402913;1711570;19457998;19344414;19198561;18842294;18684945;18677279;18658028;18598642;18573902;18524830;18514989;18287234;17947513;17914026;17715217;17617869;17599974;17560639;17467801;17412968;17261436;17116876;17015676;16888016;16735514;16710414;16690929;16621965;16386793;16344560;16254377;16253969;16087667;15919905;15845515;15845255;15808690;15784724;15592455;15489334;15385816;15336534;15308701;15307194;15307176;15151618;15121049;15078926;15047806;14962294;14962279;14712499;14708531;14615110;14597734;14566335;14566051;12958316;12915534;12724329;12663806;12540904;12477932;12171934;12112588;12082081;12055245;12050388;11983016;11971006;11901164;11858824;11844145;11739493;11714708;11260136;10972291;10843656;10751138;10741407;10657632;10619434;10357804;9759896;9661662;9659228;9551389;9379894;9185079;8764003;8418811;8371352;8125298;8026516;7929741;19396169;19423540;19597833;19737905;19784949;19837375;19845582;19861685;19878546;19957088;20018629;20057080;20059470;20106822;20237496;20406964;20438785;20513133;20925204;19662541;20638094;20800630;20865641;20843232;22171659;21283821;21450813;21545652;21840606;22293503;21858107;21987572;22357652;22544928;20972266;21617523;21890473;21906983;21706448;21934552;22086389;22153652;20301541;23251661;23326517;21963094;22594569;23000965;23049856;23391762;23235567;22761385;23042280;22053931;22505724 4179 Q92494;Q9NNW2;R4GN18 A18585;ABBA01048241;AF209712;AF209713;AF209714;AI589224;AK129560;AK222822;AK291227;AK296819;AL035209;AL365178;AMYH01001691;AU131238;AY916779;BC007046;BC026273;BC030594;BX537451;BX640613;BX649050;CH471100;D84105;DB078198;EF076055;EF076056;EF076057;EF076058;M58050;NG_009296;NM_002389;NM_153826;NM_172350;NM_172351;NM_172352;NM_172353;NM_172359;NM_172361;S51940;S65879;X59405;X59406;X59407;X59408;X59409;X59410;Y00651;Y07713 AAA62833;AAB24802;AAD13968;AAF73844;AAF73845;AAF73846;AAH30594;AAW82433;ABK81635;ABK81636;ABK81637;ABK81638;ABM81827;ABM84980;BAA12224;BAD96542;BAF83916;BAG59392;CAA01400;CAA68675;CAA68985;CAD97694;CAE45719;CAI45983;EAW93463;EAW93464;EAW93465;EAW93466;EAW93467;EAW93468;EAW93469;EAW93470;EAW93471;EAW93472;EAW93473;EAW93474;EAW93475;EAW93476;EAW93477;NP_002380;NP_722548;NP_758860;NP_758861;NP_758862;NP_758863;NP_758869;NP_758871;P15529 Hs.510402 1643954;1655051;1695780;1722271;1770475;1791430;1796314;2119968;2138430;2142635;2152479;2180809;5015869;5120289 D1S2240;D1S3213;D1S3297;G60046;GDB:231980;GDB:313261;MCP_1349;PMC109970P1;RH69587;SHGC-53730;SHGC-76274;SHGC-76279;SHGC-82542;WIAF-2149 AHUS2;MCP;MGC26544;MIC10;TLX;TRA2.10 CD46 antigen, complement regulatory protein;OTTHUMP00000034577;OTTHUMP00000034622;OTTHUMP00000034623;OTTHUMP00000034624;OTTHUMP00000034625;OTTHUMP00000034626;OTTHUMP00000034706;OTTHUMP00000034707;OTTHUMP00000216786;OTTHUMP00000216787;antigen identified by monoclonal antibody TRA-2-10;complement membrane cofactor protein;measles virus receptor;membrane cofactor protein;trophoblast leucocyte common antigen;trophoblast leukocyte common antigen;trophoblast-lymphocyte cross-reactive antigen APPROVED protein-coding ENSG00000117335 6953 00406 120920;612922 REVIEWED 737036 CD44 CD44 molecule (Indian blood group) The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008] 11 11 p13 35116993 35210525 + 35160417 35253949 + 2289349;2289353;2289371;2289388;2289345;2289347;2289350;2289351;2289352;2289356;2289357;2289358;2289361;2289362;2289364;2289369;2289372;2289373;2289346;2289354;2289359;2289360;2289363;2289370;2296043;2296044;4145437;6480464;6907045 17991717;16998464;16837837;8639178;18091389;18026989;17464868;17284111;17059779;16425351;16321281;16308159;12131349;11245336;18196276;16891795;16804311;16612977;18064740;16786159;16124061;12833185;10022688;16850024;15762960;14658589;12750406 20211062;20956971;21257828;19167378;18387829;9058761;22561518;2471973;1991450;1922057;18029348;16809613;19506034;19488035;19434087;19432801;19416960;19415765;19396460;19385591;19360323;19351367;19331807;19277703;19254252;19243022;19176383;21764578;22491449;22499789;19148550;19100415;19097357;19088176;19077409;19073595;19023892;19017937;19017033;19010227;19009655;19004834;18997126;18981124;18980968;18971959;18952835;18852874;18835619;18804988;18804101;18787423;18757307;18753140;18662989;18654930;18651220;18644869;18632604;18614011;18612220;18608209;18577517;18559090;18516325;18513329;18502153;18502033;18495204;18450824;18450428;18441325;18438684;18415803;18414895;21151997;21179550;16713680;16702221;16652145;16636662;16620830;16565092;16565089;16554035;16533775;16530165;16504370;16478744;16419149;16415175;16407205;16390331;16354706;16352650;16335952;16325770;16311123;16234326;16229685;16219515;16208414;16177123;16166750;16085055;16002044;15990174;15962382;15943035;15923644;15867228;15816636;15809746;15783086;15736104;15728517;15652352;15645378;15641486;15638386;15638368;15578568;15558018;15531362;15516973;15509527;15489334;15361838;15313120;15292257;15239258;15123640;15070674;15060082;15051494;15048167;15040016;15023889;15017146;15013310;15009704;14992719;14981907;14702039;14669354;14644158;14623895;14614016;14534719;14534711;14525786;14504094;12949055;12939665;12928429;12911725;12909589;12908752;12901833;12893366;12883358;12842543;12826680;12820426;12801931;12779084;12767055;12748184;12730955;12727228;12714503;12711360;12702150;12650924;12635659;12629514;12574156;12511867;12511569;12508241;12506143;12485845;12479099;18375392;18372518;18350162;18326820;18276068;18265895;18234849;18227732;18214619;18199543;18193058;18162778;18160820;18155656;18094716;18092951;18077444;18048043;18005092;17987038;17975002;17945213;17945212;17940137;17919613;17914409;17911438;17849363;17846873;17726647;17708612;17702746;17679465;17657222;17638891;17627000;17611662;17611661;17599831;17589956;17581168;17579117;17540049;17516109;17482182;17479111;17392272;17383158;17343740;17332338;17265493;17237445;17136494;17135256;17092940;17085435;17081983;16998484;16998483;16969488;16868940;16809345;12477932;12452061;12444143;12439723;12421945;12411303;12407110;12393872;12392323;12377945;12371152;12370738;12356905;12297287;12235127;12226094;12223485;12198147;12183053;12168806;12145287;12145196;12127836;12093135;12090473;12032545;11935029;11840273;11839564;11825898;11825873;11792412;11759056;11740562;11727257;11716065;11606575;11466334;11463356;11402070;11381077;11129651;11095749;11084024;10950950;10933060;10737800;10657301;10652271;10636882;9794764;9580567;9573028;9472040;9334256;8871928;8858161;8649806;8640758;8636151;8599448;8576267;8352881;8343954;8148709;7908632;7699015;8986622;7591309;7557500;7542116;7539755;7532176;7529574;7516819;7508842;7505012;7499241;2474557;2466576;2466575;2454887;2056274;2007624;1840487;1734871;1730778;1717145;1694723;1537855;1496383;1465456;1281868;17891137;15688033;16248506;16494036;20200161;20698358;21454519;21471434;20606732;20663884;11207560;15452148;17045821;18246799;18279620;18396641;19200980;19350388;19563418;19580891;19582779;19598259;19626493;19633292;19635906;19638429;19703720;19724852;19764564;19773544;19787202;19787231;19794958;19794964;19799609;19816074;19826051;19857547;19912362;19914206;19937401;19952968;19955840;19965872;19996285;20019840;20042890;20083228;20093404;20093489;20098615;20127679;20142144;20178130;20193563;20212041;20237496;20306693;20382854;20403620;20530438;20525896;20799279;20361869;19906290;20157733;20357818;20374021;20121756;20588206;20663864;20199686;20228222;20562647;19913121;20454640;20606680;20628086;20628624;20806065;20819778;20851866;20843027;20552237;20605145;20969572;20974992;21055388;15851553;19141242;20670691;20696077;21194677;20856229;20491779;20837694;21087933;21098716;20971508;21376257;21411116;19794081;21471214;21482826;18476625;18476632;19621595;16848180;21258793;21215700;21124918;21393860;21078678;21136024;21257905;20526812;21299347;21356346;19698232;21630198;22068886;22449225;22525501;22673507;21397861;20920234;22610780;22753277;22770970;22836803;15655247;22270319;22863883;23118219;23160198;23002207;22637644;22740326;22939629;22947857;21294926;21473743;21493336;20962267;7821789;19047049;21278261;21279958;21708929;21331451;21570715;21768350;21489997;21374592;21768115;21804359;21813394;21632186;21254647;21701559;21618131;21618132;21633165;22278305;20416163;21105049;21617876;21731740;21829201;21824412;21827751;21849440;21743962;21833756;21912471;22125838;21680714;22389315;22610405;23547049;23589287;23589310;9519902;21424816;21645921;21649540;21694464;21802218;20405247;21953074;22901285;22932199;23039365;11944887;15100360;17170110;21678082;21987572;22213301;22014860;22322379;22072421;22321833;22335271;22386367;22673910;21749678;21819617;21957977;21139048;21685938;21906983;21935404;21993315;21830016;22021370;22069487;22119814;22152097;23263849;23609373;19322201;20809185;22234250;22433859;22456539;22493711;22514625;22552294;22552741;22559040;19577615;21546273;21718681;21835433;21895545;21898409;21935375;22024057;22048598;22076958;22130902;22135720;22205660;22216242;22242150;22266115;22271686;22272243;22293754;22437554;22237177;22307465;22363471;22804494;22969228;23098472;23112116;21933023;23049743;23031255;23089492;22654106;22711991;22843930;23220849;22218639;22429811;22839505;23071680;23326564;21963094;22304920;23000965;23056168;23221384;22740085;23273568;23400010;22895075;23342032;22972620;23419168;23445749;23645762;22621373;22922740;22923171;23182705;23170789;23226410;23252868;22119938;22733437;23435135;17381240;19275586;21668410;22784357;22807608;22847005;22865879;22870202;17324121;22923071;22966907;22967445;23028444;23151220;22726066 960 E7EPC6;E9PKC6;H0Y2P0;H0Y5E4;H0YCL4;H0YCV9;H0YD13;H0YD17;H0YD90;H0YDV8;H0YDW7;H0YDX6;H0YE40;H0YEA1;H0YES0;H0YEU1;H0YEV3;H0YF08;J3KN83;Q86UZ1;Q9UCB0 AB073901;ABBA01060862;AF086543;AF098641;AJ251595;AK123567;AK127622;AK129808;AK290424;AK297776;AK304467;AK307707;AL133330;AL136989;AL356215;AL832642;AMYH01003489;AY101192;AY101193;BC004372;BC052287;BC067348;BF828674;BF872530;BG946113;CD721908;CH471064;D28447;EF581837;FJ216964;HI519530;L05423;L05424;M24915;M25078;M59040;M83324;M83325;M83326;M83327;M83328;NG_008937;NM_000610;NM_001001389;NM_001001390;NM_001001391;NM_001001392;NM_001202555;NM_001202556;NM_001202557;S66400;S72928;S82326;U40373;W47313;X55150;X55938;X56794;X62739;X66733 AAA35674;AAA36138;AAA51950;AAA82949;AAB13622;AAB13623;AAB13624;AAB13625;AAB13626;AAB13627;AAB13628;AAB27917;AAB27918;AAB27919;AAB30429;AAC70782;AAD14389;AAH04372;AAH52287;AAH67348;AAM50040;AAM50041;ABQ59315;ACI46596;BAA05813;BAF83113;BAG60121;BAG65282;CAA38951;CAA39404;CAA40133;CAA44602;CAA47271;CAB61878;CAD89965;CBX54346;EAW68144;EAW68145;EAW68146;EAW68147;EAW68148;EAW68149;EAW68150;EAW68151;EAW68152;EAW68153;EAW68154;EAW68155;NP_000601;NP_001001389;NP_001001390;NP_001001391;NP_001001392;NP_001189484;NP_001189485;NP_001189486;P16070 Hs.502328 1648522;1666080;1670636;1693592;1699158;1725823;1727053;1737265;1741833;1770236;1791460;1793888;1795518;1851396;1856308;2116565;2131340;2143219;2150914;2185524;5014051;5037552;5120105 AFM283wh9;CD44;CD44_1447;D11S3129;D11S4430;D11S4589;D8S2278;D8S2279;G15910;G62000;G62926;GDB:185470;GDB:196637;PMC111028P1;PMC303366P9;RH103158;RH35975;RH36176;RH68898;RH69895;SHGC-58498;STS-H03494;STS-N23307 CDW44;CSPG8;ECMR-III;HCELL;HUTCH-I;IN;LHR;MC56;MDU2;MDU3;MGC10468;MIC4;MUTCH-I;Pgp1 CD44 antigen;GP90 lymphocyte homing/adhesion receptor;Hermes antigen;OTTHUMP00000041555;OTTHUMP00000041556;OTTHUMP00000041557;OTTHUMP00000041558;OTTHUMP00000041559;OTTHUMP00000232487;OTTHUMP00000232488;OTTHUMP00000232489;OTTHUMP00000232491;OTTHUMP00000232492;OTTHUMP00000232493;OTTHUMP00000232494;OTTHUMP00000232495;OTTHUMP00000232522;cell surface glycoprotein CD44;chondroitin sulfate proteoglycan 8;epican;extracellular matrix receptor III;hematopoietic cell E- and L-selectin ligand;heparan sulfate proteoglycan;homing function and Indian blood group system;hyaluronate receptor;phagocytic glycoprotein 1 APPROVED protein-coding ENSG00000026508 1681 00115 107269;609027 REVIEWED 1348187 CD52 CD52 molecule 1 1 p36 26516998 26519601 + 26644411 26647014 + 6480464 21552305;8223854;1711975;18647288;17624925;17428002;17145843;16797237;16796779;16266689;15489334;14662784;12477932;12113063;11860230;11257744;10561018;10524207;9361796;8977262;8418821;8418812;8366859;7890742;7718516;7688956;7685389;1352921;20349607;19794084;22386526;17118455;22491736 1043 P31358;Q9UJ81 A23013;ABBA01034904;AJ132359;AL451139;AMYH01000397;BC000644;BI835519;BT007116;CH471059;CR456874;NG_028986;NM_001803;X62466;X67699 AAH00644;AAP35780;ABM84634;CAA01644;CAA44323;CAA47929;CAB51285;CAG33155;EAX07822;NP_001794;P31358 Hs.276770 1725835;2146598;2166055 D1S3354;G62004;RH70873 CDW52 CAMPATH-1 antigen;CD52 antigen (CAMPATH-1 antigen);CDW52 antigen (CAMPATH-1 antigen);OTTHUMP00000003570;cambridge pathology 1 antigen;epididymal secretory protein E5;he5;human epididymis-specific protein 5 protein-coding ENSG00000169442 1804 00257 114280 VALIDATED 736702 CD5 CD5 molecule 11 11 q13 60626543 60651900 + 60869930 60895324 + 1580863;6480464 17585360;22395507;1711157;3093892;11390434;19573080;19141631;18641338;18572329;18556402;18339402;18006695;17878328;17513730;17325858;16923582;16344560;16107871;15998834;15981803;15843554;15549146;15489334;15187131;15144186;14603444;12707340;12522270;12477932;12473675;12447961;12393419;11869933;11861604;11751967;11298344;11123317;10510361;10082557;9862202;9834084;9692886;9603468;9378960;9079809;8806810;7539755;7513045;7512031;1385158;21833088;21892966;19758163;19773279;19901887;20568250;21048031;21123968;21395509;22732449;21398617;21757751;21539877;21436320;21786452;21926348;22278227;21835435;22406370;23128233;23376399;22333190;18555888;22904299 921 F5GYK3;P06127 ABBA01003190;ABBA01003191;AK292698;AMYH01003669;AP000437;AY541703;BC027901;CH471076;DB143341;EF064752;NM_014207;X04391;X89405 AAH27901;AAS55053;ABK41935;ABM83003;ABM86196;BAF85387;CAA27979;CAA61584;EAW73924;NP_055022;P06127 Hs.58685 1742503;1772695;1853302;1853465;2119946 CD5;D11S4363;GDB:197830;SHGC-58041;STS-X89405 LEU1;T1 CD5 antigen (p56-62);OTTHUMP00000236973;T-cell surface glycoprotein CD5;cd5 antigen;lymphocyte antigen T1/Leu-1 protein-coding ENSG00000110448 1685 01078 153340 VALIDATED 737207 CD53 CD53 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 1 1 p13 111215344 111244081 + 111413821 111442558 + 1580863;6480464 1346273;8404042;8436422;17210617;16710414;16506060;15489334;12725440;12631118;12606948;12477932;12392323;11959120;11739647;11443129;11157846;10529602;10229664;9862348;9470900;8816400;8757325;8335905;8319976;8307585;7963560;7621882;7539755;2258620;1879540;1700763;11325968;20237496;20407468;19913121;20628086;21993531;23251661;23313165 963 B4DQB5;P19397 ABBA01068394;AJ243474;AK298723;AK313582;AL354713;AL391064;AMYH01000945;BC035456;BC040693;BG536920;BT019643;CA453414;CH471122;L11670;L11671;M37033;M60871;NM_000560;NM_001040033 AAA35663;AAA51951;AAH40693;AAV38449;BAG36352;BAG60877;EAW56459;NP_000551;NP_001035122;P19397 Hs.443057 1339872;1688158;1697060;1768648;1771264;2108717;2174468;5119478 CD53_92.2;D1S2090;D1S2809;D1S3453;RH102009;RH67893;RH69138;SHGC-12404 MOX44;TSPAN25 CD53 glycoprotein;CD53 tetraspan antigen;OTTHUMP00000013686;antigen MOX44 identified by monoclonal antibody MRC-OX44;cell surface antigen;cell surface glycoprotein CD53;leukocyte surface antigen CD53;tetraspanin-25;transmembrane glycoprotein;tspan-25 APPROVED protein-coding ENSG00000143119 1686 01054 151525 REVIEWED 737499 CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group) This gene encodes a protein involved in the regulation of the complement cascade. The encoded glycoprotein is also known as the decay-accelerating factor (DAF); binding of DAF to complement proteins accelerates their decay, disrupting the cascade and preventing damage to host cells. Antigens present on the DAF glycoprotein constitute the Cromer blood group system (CROM). Two alternatively spliced transcripts encoding different proteins have been identified. The predominant transcript encodes a membrane-bound protein expressed on cells exposed to plasma component proteins but an alternatively spliced transcript produces a soluble protein present at much lower levels. Additional, alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 1 1 q32 205561488 205600470 + 207494817 207534311 + 1580863;2326181;2326170;2326179;2326180;2326167;2326173;2326175;2326168;2293549;2326166;6480464;6907045 10850450;15102687;12427125;10929073;18288643;11506079;20403613;16533428;9358772;18676748 8223854;2433596;11313396;19424617;19344414;19341386;18997004;18954403;18842294;18579524;18524812;18443552;18374870;18305044;18165780;18158579;17893077;17449467;17395591;17368771;17182573;17167176;16980062;16951684;16908271;16818763;16647457;16626483;16602701;16543227;16503113;16367924;16273233;16179371;16079188;15919505;15831949;15808692;15808686;15808683;15808680;15721309;15596863;15536079;15489334;15385816;15356143;15351205;15350460;15284224;15151618;15102803;15007307;15007304;14993659;14962294;14734808;14722298;14530374;14517339;12950987;12920584;12880676;12811528;12731067;12675719;12672958;12664211;12659837;12654791;12645951;12499389;12477932;12445304;12393518;12386146;12186929;12153048;12119400;12117960;11983016;11832343;11745332;11694537;10540231;9541601;9435343;9427725;9238658;9110174;9010927;8619474;7687624;7678074;7673728;7545711;7525274;7519480;7512501;2459267;2438369;2436222;2428813;1824699;1740338;1720702;1712233;1711208;1385527;1377029;1376264;8887350;7535292;15327779;20638094;20673868;16563273;19364072;19423540;19675582;19681921;19710132;19729796;19781296;19878546;20237496;20406964;20438785;20452482;19662541;20221634;20339853;20692039;20689133;20727519;22574734;22939629;23006730;22553215;21420451;21727667;21518786;21802665;21380985;21545652;22293503;22590509;22391577;15907827;22445689;22206234;22547928;22693232;23049856;23152895;21963094;23176121;20727121;22761385;22830021;22961402;23042280;23402020 1604 B1AP13;B1AP15;E9PSH2;H3BLV0;H7BY55;Q14UF3 AB003312;AB240566;AB240567;AB240568;AB240569;AB240570;ABBA01048247;AF052110;AK298549;AK300621;AK312448;AL391597;AL596218;AMYH01001680;AY055757;AY055758;AY055759;AY055760;AY851161;BC001288;BI545505;BT007159;CA432400;CA748776;CH471100;DC386415;HI573864;M15799;M30142;M31516;M64653;NG_007465;NM_000574;NM_001114752;S72858;U88576 AAA52167;AAA52168;AAA52169;AAA52170;AAB48622;AAC60633;AAH01288;AAL25832;AAL25833;AAL25834;AAL25835;AAP35823;AAW29942;ABM81702;ABM84861;BAA22900;BAE97422;BAE97423;BAE97424;BAE97425;BAE97426;BAG35355;BAG60746;BAG62314;CBX47421;EAW93485;EAW93486;EAW93487;EAW93488;EAW93489;EAW93490;EAW93491;EAW93492;EAW93493;EAW93494;EAW93495;EAW93496;EAW93497;EAW93498;EAW93499;NP_000565;NP_001108224;P08174 Hs.126517 1658900;1662556;1673231;1701254;1769851;1774916;1795674;1853964;2124252;2131657 D12S1886;DAF_16;RH104255;RH67915;SHGC-36215;SHGC-64092;SHGC-76268;SHGC-76273;SHGC-76278;WI-20337 CR;CROM;DAF;TC CD55 antigen;OTTHUMP00000034398;OTTHUMP00000034399;OTTHUMP00000034400;OTTHUMP00000034420;OTTHUMP00000228537;OTTHUMP00000228538;complement decay-accelerating factor;decay accelerating factor for complement APPROVED protein-coding ENSG00000196352 2665 00500 125240;613793 REVIEWED 1343400 CD58 CD58 molecule This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a ligand of the T lymphocyte CD2 protein, and functions in adhesion and activation of T lymphocytes. The protein is localized to the plasma membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009] 1 1 p13 116858680 116915126 - 117057156 117113715 - 1580863;6480464 7544493;19506219;19497873;19375175;19268704;19237575;19110536;18820826;17168569;17085486;16830383;16602701;15963548;15093607;12798307;12553064;12496412;12477932;11575926;11051456;10380930;10220497;10200255;10099837;9574540;9510189;9350325;8889548;7545392;7515920;3313052;19109405;3309127;1377404;1757107;7589092;12853962;16169070;20570633;18650830;19525953;19525955;19834503;19865102;19879194;19898481;20237496;20368992;20806065;21832049;20450971;21244703;21362770;21982860;21726122;22137796;22190364;21833088 965 B1AMW1;H0YDI1;P19256 ABBA01068487;ABBA01068488;ABBA01068489;AK125710;AK291980;AL355794;AL390066;AMYH01000969;AMYH01000970;BC005930;BT019816;BT019817;CA312671;CD365881;CH471122;CR456939;CS278854;D28586;HH979247;NM_001144822;NM_001779;NR_026665;S79616;X06296;Y00636;Y14780 AAB40000;AAH05930;AAV38619;AAV38620;BAA05922;BAF84669;CAA29622;CAA68668;CAA75083;CAA75084;CAG33220;CAJ86521;CBX51827;EAW56652;EAW56653;EAW56654;EAW56655;EAW56656;NP_001138294;NP_001770;P19256 Hs.34341 1649214;1677879;1692004;1752733;1754575;1791772;2115943;2155680;2161156;5119480 AL010069;AL033745;D1S3262;D1S3454;PMC124986P3;RH78061;SHGC-106572;SHGC-132861;SHGC-53613;SHGC-75374 FLJ23181;FLJ43722;LFA-3;LFA3;ag3 CD58 antigen, (lymphocyte function-associated antigen 3);OTTHUMP00000024363;OTTHUMP00000024364;OTTHUMP00000231922;OTTHUMP00000231923;ag3;lymphocyte function-associated antigen 3;surface glycoprotein LFA-3 APPROVED protein-coding ENSG00000116815 1688 01081 153420 REVIEWED 1351600 CD6 CD6 molecule This gene encodes a protein found on the outer membrane of T-lymphocytes as well as some other immune cells. The encoded protein contains three scavenger receptor cysteine-rich (SRCR) domains and a binding site for an activated leukocyte cell adhesion molecule. The gene product is important for continuation of T cell activation. This gene may be associated with susceptibility to multiple sclerosis (PMID: 19525953, 21849685). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 11 11 q13 60495750 60544425 + 60739113 60787849 + 1580863;6480464 21145461;21833088;12493773;1919444;19525953;18707547;17601777;17371992;16914752;16818773;16818742;16344560;16034076;12477932;12473675;9436462;9394826;9013954;7678115;7589069;7543097;3923629;2016320;10899308;20810246;20726988;19865102;19879194;20237496;20430450;21244703;21552549;21849685;21178331;21956609;21988832;23128233;22685579 923 E7ER04;F5H835;F6UFK6;G5E973;H0YGL3;P30203;Q6AZ88;Q8N4Q7 ABBA01021518;ABBA01021519;AI657093;AK126159;AK128419;AK292704;AK312749;AMYH01003668;AMYH01003669;AP003721;BC033755;BC078669;CH471076;DB147406;DB155411;DQ786329;DQ786330;L78838;NM_001254750;NM_001254751;NM_006725;NR_045638;U34623;U34625;U66142;U66143;U66144;U66145;U66146;X60992 AAA86417;AAA86419;AAC51161;AAC51162;AAC51163;AAC51164;AAC51165;AAH33755;AAH78669;AAL40085;AAL40086;AAL40087;AAL40088;AAL40089;ABH04237;ABH04238;BAF85393;CAA43306;EAW73917;EAW73918;EAW73919;EAW73920;EAW73921;EAW73922;EAW73923;NP_001241679;NP_001241680;NP_006716;P30203 Hs.744366 1335673;1659414;1682391;2150814 D11S1765;RH70609;RH79917;STS-X60992 FLJ44171;TP120 CD6 antigen;OTTHUMP00000236965;OTTHUMP00000236967;OTTHUMP00000236969;OTTHUMP00000236970;OTTHUMP00000236971;T-cell differentiation antigen CD6;T12 APPROVED protein-coding ENSG00000013725 1691 01724 186720 VALIDATED 1318347 CD5L CD5 molecule-like 1 1 q21-q23 156067330 156078175 - 157800704 157811634 - 1580863;6480464 9045627;14718574;19204726;19155514;19116453;18660489;16710414;16344560;16030018;15489334;15340161;12975309;12477932;11981870;8034987;20237496;20379614;23236605;21970839;18051367 922 O43866 ABBA01016636;AF011429;AF147312;AK292040;AL139409;AMYH01001443;AY358494;BC033586;CH471121;CS538845;CS615452;DA957550;NM_005894;U82812 AAB91989;AAD01446;AAH33586;AAQ88858;ABM84541;ABM86224;BAF84729;CAM90872;CAO02287;EAW52859;NP_005885;O43866 Hs.134035 1672113;1729218;1778017;1857334;2166566 D1S176;D1S3339;D1S3558;RH12832;SHGC-58141 AIM;API6;PRO229;SP-ALPHA;Spalpha CD5 antigen-like;CT-2;OTTHUMP00000024057;apoptosis inhibitor 6;igM-associated peptide protein-coding ENSG00000073754 1690 03997 602592 VALIDATED 736600 CD59 CD59 molecule, complement regulatory protein This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] 11 11 p13 33681132 33714600 - 33724556 33758025 - 1600478;1600479;1600482;1600483;1600485;1600486;1600487;1600493;1600494;1600495;1580863;1600500;2326189;2293548;2306066;2326192;6480464;6907045;7240710 16751365;16425382;15843577;14519760;12909127;12483994;12453906;10530491;10450801;9846834;7523753;19254481;10637067;15726105;12898600 21252115;12577067;1381503;7691713;9724629;19424617;19380765;19344414;19297024;19254252;19200600;19168743;19131645;19116988;18954403;18842294;18487376;18445344;18443552;18362151;18158579;17671359;17644516;17635812;17585877;17505110;17412968;16908271;16859540;16844690;16602701;16493049;16344560;16341674;16274631;16179371;16032396;15766396;15543155;15489334;15448097;15389819;15351205;15231748;15151618;15147772;14962294;14702039;14635045;14517339;12880676;12646570;12645951;12553064;12477932;12219031;11477359;11095009;10805801;10708443;10341291;9444417;9358772;9238658;9235986;9054419;9053451;8995588;8969267;8889548;8876826;8798614;8789559;8670172;8650218;8526992;8276756;7686996;7683594;7673728;7553895;7544344;7530684;7523406;7520819;7515200;7512825;7505007;2606909;2476718;2475570;2475111;2302178;1702747;1699124;1692709;1689664;1383553;1383132;1382994;1377690;1377404;1376264;1372592;10786997;8887350;9263011;7539755;16563273;19686460;19737458;19781296;19804910;20212283;20237496;20638094;19662541;22701098;20689133;20727519;20961375;19622297;17500595;23006730;21507937;21727667;21545652;22000275;21720565;21802665;21129240;22293503;22480874;15907827;21932413;23149847;17110338;21963094;23049856;19369333;19955519;21813604 966 E9PI80;E9PNW4;E9PR17;H0YET2;P13987;Q6FHM9 ABBA01060881;ABBA01060882;ABBA01060883;AI147924;AK128571;AK309894;AK311778;AL037045;AL049629;AL049957;AL080087;AL703204;AMYH01003485;AU136899;AU139009;AU139541;AW166662;BC001506;BC033226;BE899630;BG284181;BI752924;BM457931;BM551313;BM680161;BM724931;BM829941;BM911556;BQ230563;BQ440441;BT007104;BU154979;BX475103;CF529941;CH471064;CR407661;CR541722;DA250543;DA578905;DA840870;DA917093;M27909;M34671;M84349;M95708;NG_008057;NM_000611;NM_001127223;NM_001127225;NM_001127226;NM_001127227;NM_203329;NM_203330;NM_203331;X16447;X17198;X84805;Z14113 AAA51952;AAA60543;AAA60957;AAA88793;AAH01506;AAP35768;ABM84744;ABM92257;ABW03275;BAG34721;CAA34467;CAA35059;CAA78486;CAG28589;CAG46523;EAW68192;EAW68193;NP_000602;NP_001120695;NP_001120697;NP_001120698;NP_001120699;NP_976074;NP_976075;NP_976076;P13987 Hs.278573;Hs.709466;Hs.710641 1650673;1655949;1776467;1797370;2116761;2125681;2140294;2160154;2169120;2171725;2184132;2186093;2186373;5037552 A004V27;CD59;CD59_1802;D11S3984;D11S4339;D11S4717;D8S2279;HUM0S15C02;RH18284;RH44913;RH45061;SHGC-32142;STS-M34671;STS-N37061 16.3A5;1F5;EJ16;EJ30;EL32;FLJ38134;FLJ92039;G344;HRF-20;HRF20;MAC-IP;MACIF;MEM43;MGC2354;MIC11;MIN1;MIN2;MIN3;MIRL;MSK21;p18-20 1F5 antigen;20 kDa homologous restriction factor;CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344);CD59 glycoprotein;Ly-6-like protein;MEM43 antigen;OTTHUMP00000232408;OTTHUMP00000232409;OTTHUMP00000232410;OTTHUMP00000232411;OTTHUMP00000232412;OTTHUMP00000232413;OTTHUMP00000232414;OTTHUMP00000232415;OTTHUMP00000232416;OTTHUMP00000232608;OTTHUMP00000232610;T cell-activating protein;cd59 antigen;human leukocyte antigen MIC11;lymphocytic antigen CD59/MEM43;membrane attack complex (MAC) inhibition factor;membrane attack complex inhibition factor;membrane inhibitor of reactive lysis;protectin;surface anitgen recognized by monoclonal antibody 16.3A5 APPROVED protein-coding 1689 00117 107271;612300 REVIEWED 1314316 CD68 CD68 molecule This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008] 17 17 p13 7423529 7426153 + 7482805 7485429 + 1580863;6480464 21192298;7680921;19356953;19165649;18316565;17583472;17052752;16888915;16344560;16263699;15638380;15489334;15214825;12676954;12572894;12477932;12429719;12397372;10985244;9790779;8639768;8125298;20333725;19661345;20374310;21266828;21113139;22948049;22968485;21980389;22007938;22829776;22044760;22955918;22163030;22395501;22314623;21988832;23241402;22289504 968 J3KRX0;J3KT24;P34810 ABBA01054873;AC016876;AF060540;AK222492;AK222514;AK290238;AK298055;AK301223;AMYH01008085;AW294871;BC015557;BT009923;BX438711;BX647524;CH471108;DB187273;NG_009204;NM_001040059;NM_001251;S57235 AAB25811;AAC70006;AAH15557;AAP88925;ABM84727;ABM92248;BAD96212;BAD96234;BAF82927;BAG60349;BAG62796;EAW90165;NP_001035148;NP_001242;P34810 Hs.647419 1677160;1683743;1792084;1793826;2106979;2120336;2151291;2187387 CD68_7229;PMC136595P1;PMC296995P1;RH11637;RH83558;SHGC-31951;STS-R55342;WI-22031 DKFZp686M18236;GP110;LAMP4;SCARD1 OTTHUMP00000135285;macrophage antigen CD68;macrosialin;scavenger receptor class D, member 1 APPROVED protein-coding ENSG00000129226 1693 01093 153634 REVIEWED 735587 CD63 CD63 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Apr 2012] 12 12 q12-q13 54405497 54409177 - 56119227 56123457 - 1580863;2314182;2314188;2314203;6480464 19233449;15817881;10547212 15229288;1993697;8661157;9602068;19458002;19381331;19079288;18669870;18600034;18426873;18321974;18211905;18182005;17827389;17624082;17522207;17390088;17350713;17279322;17275019;16918509;16917503;16908530;16683915;16410552;15711748;15528334;15489334;15375577;15146197;15130945;14660791;12974720;12871315;12826159;12755696;12754519;12610138;12579280;12480921;12477932;12230470;12175627;12036870;11907283;11752456;11739647;11328596;11278880;11204565;11113129;10529602;10436028;10405235;10229664;9822308;9759843;9360996;9360995;9111230;9006891;8871662;8757325;8630057;7682577;7629079;4062294;3365686;2516848;2171551;1879540;1599482;1339263;9271374;19581020;21527913;1435334;20237496;20633031;20693981;20337613;21315401;10708443;16533950;21149578;21103663;19246649;19292867;21803846;21674799;21521534;21660937;21139048;21890473;21906983;15647390;18727065;16712791;11584299;12885763;14722309;15140999;16682056;16683918;16735575;16940516;17381240;17550307;17989173;18006034;18059278;18076669;18305041;18369466;18500329;18714047;18946087;18977142;19284574;19297499;19369333;19403684;19426143;19474101;19602278;19802344;19894777;19912576;20012524;20622010;20727121;21248205;21909273;22808325;22830021;22875976;22980332;9685355 967 C9JV86;F8VNT9;F8VV56;F8VWK8;F8VX62;F8W022;P08962 AA583189;ABBA01008384;AC009779;AF508304;AK311893;AL582859;AMYH01004494;AMYH01004495;AV650763;BC002349;BC013017;BE407235;BG478842;BG766593;BQ434569;BT007073;BT020137;BT020138;BU167765;BU190521;BU960599;CB128206;CD250685;CH471054;CN296813;CN296834;CN484590;CR542096;D00874;DB495090;EB386351;M58485;M59907;NG_008347;NM_001257389;NM_001257390;NM_001257391;NM_001257392;NM_001257400;NM_001257401;NM_001267698;NM_001780;S93788;X07982;X62654 AAA63235;AAB21617;AAH02349;AAH13017;AAM34259;AAP35736;AAV38939;AAV38940;ABM82174;ABM85359;BAG34834;CAA30792;CAA44519;CAG46893;EAW96827;EAW96828;EAW96829;NP_001244318;NP_001244319;NP_001244320;NP_001244321;NP_001244329;NP_001244330;NP_001254627;NP_001771;P08962 Hs.445570 1777687;2180712;5113148 RH93515;RK1421_1422;STS-AA035150 LAMP-3;ME491;MLA1;OMA81H;TSPAN30 CD63 antigen (melanoma 1 antigen);OTTHUMP00000243852;OTTHUMP00000243853;OTTHUMP00000243854;OTTHUMP00000243855;OTTHUMP00000243856;OTTHUMP00000243857;OTTHUMP00000243858;OTTHUMP00000243859;OTTHUMP00000243970;granulophysin;lysosomal-associated membrane protein 3;lysosome-associated membrane glycoprotein 3;melanoma 1 antigen;melanoma-associated antigen ME491;melanoma-associated antigen MLA1;ocular melanoma-associated antigen;tetraspanin-30;tspan-30 APPROVED protein-coding ENSG00000135404 1692 01121 155740 REVIEWED 1320672 CD7 CD7 molecule This gene encodes a transmembrane protein which is a member of the immunoglobulin superfamily. This protein is found on thymocytes and mature T cells. It plays an essential role in T-cell interactions and also in T-cell/B-cell interaction during early lymphoid development. [provided by RefSeq, Jul 2008] 17 17 q25.2-q25.3 77866035 77868769 - 80272746 80275480 - 1580863;6480464 11485208;3501369;1695199;3258561;19207946;18956470;18343790;17959857;17287851;16990185;16837044;16332967;15489334;12594831;12477932;12393702;11423532;10652336;10490978;9852078;9480746;8918688;8871597;8666891;8662072;8125298;2479685;1711009;1703303;19683346;19937140;20046078;20175919;20398252 924 J3QLC7;J3QLM0;J3QRF1;J3QS65;J3QS78;P09564;Q29VG3 ABBA01019675;AC132872;AK223465;AK298096;AK310061;AK310558;AMYH01008731;AY935534;AY935535;AY935536;AY935537;BC009293;BC013297;BI838777;BI906419;BM917451;BT006696;CH471099;D00749;M37271;NM_006137;X06180 AAA51953;AAH09293;AAH13297;AAP35342;AAY15454;AAY15455;AAY15456;AAY15457;ABM81666;ABM83516;ABM84837;ABM86736;BAA00646;BAD97185;BAG60381;CAA29546;EAW89763;EAW89764;EAW89765;NP_006128;P09564 Hs.36972 1699966;1741211;2128933;5015790 G29875;GDB:178581;GDB:180952;RH103593 GP40;LEU-9;TP41;Tp40 T-cell antigen CD7;T-cell leukemia antigen;T-cell surface antigen Leu-9;p41 protein APPROVED protein-coding ENSG00000173762 1695 01732 186820 REVIEWED 1351395 CD69 CD69 molecule This gene encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors. Expression of the encoded protein is induced upon activation of T lymphocytes, and may play a role in proliferation. Furthermore, the protein may act to transmit signals in natural killer cells and platelets. [provided by RefSeq, Aug 2011] 12 12 p13 9796349 9804764 - 9905082 9913497 - 1580863;6480464 8340758;19383348;18959746;18627570;18593762;17693977;17541278;17237603;16788832;16525420;16396693;15893733;15489334;14728878;12865808;12718936;12626587;12580810;12548561;12540017;12477932;12423306;12398872;12234263;12210415;12077230;11994706;11895929;11101293;11036086;10480634;10441371;8496594;8100776;8026529;7887967;7665567;1612643;8528739;16103171;11438519;9049297;21990950;19430480;19543397;19670272;20054122;20237496;20369839;20378605;15952571;17192395;21427408;21152932;21557772;21993667;22456278;22184722;22678911;19275586;22479639;23507197 969 B4E009;Q07108;Q53ZX0 ABBA01067794;AC007068;AK291869;AK303174;AK303383;AMYH01004275;AY238518;BC007037;CH471094;HI574208;L07555;NM_001781;Z22576;Z30426;Z38109 AAB46359;AAH07037;AAO63584;ABM84101;ABM87473;BAF84558;BAG64271;BAG64439;CAA80298;CAA83017;CAA86225;CBX47593;EAW96122;EAW96123;NP_001772;Q07108 Hs.208854 1644321;1646906;1743983;1795522;2163425 CD69_506;GDB:384725;RH68090;STS-Z22576;WI-9214 AIM;BL-AC/P26;CLEC2C;EA1;GP32/28;MLR-3 AIM;BL-AC/P26;C-type lectin domain family 2 member C;C-type lectin domain family 2, member C;CD69 antigen (p60, early T-cell activation antigen);EA1;GP32/28;MLR-3;OTTHUMP00000238849;OTTHUMP00000238850;activation inducer molecule (AIM/CD69);early T-cell activation antigen p60;early activation antigen CD69;early lymphocyte activation antigen;leukocyte surface antigen Leu-23 APPROVED protein-coding ENSG00000110848 1694 00119 107273 REVIEWED 1351721 CD70 CD70 molecule The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a surface antigen on activated, but not on resting, T and B lymphocytes. It induces proliferation of costimulated T cells, enhances the generation of cytolytic T cells, and contributes to T cell activation. This cytokine is also reported to play a role in regulating B-cell activation, cytotoxic function of natural killer cells, and immunoglobulin sythesis. [provided by RefSeq, Jul 2008] 19 19 p13 6536850 6542163 - 6585850 6591163 - 1580863;6480464 8120384;8387892;9177220;11920585;19573080;19452318;19380782;19109206;19029446;19018300;18256142;18216294;17615291;17548342;17132225;16892042;16751420;15723067;15489334;15188362;15153937;15128787;12926832;12477932;12197885;12100033;12031769;12009595;11980654;11728341;10800994;9862673;9767422;9366422;8690463;8580829;8186199;8120385;7706711;7479974;2163351;21490618;20724115;20628624;20568250;12324477;19394279;19556308;19638429;19773279;19955046;20119871;20139096;20201989;21182090;12777399;21550117;17192395;21192791;20699361;21304103;21880979;21541792;21865261;21906983;22306512;23576505;19322201;22377764;22401771;23206232;22399187 970 B4DPR8;M0QZW2;P32970;Q53XX4 ABBA01051465;AC008760;AK298467;AMYH01009377;BC000725;BT007211;CH471139;EF064709;HI179090;HI573892;L08096;NM_001252;S69339 AAA36175;AAB30121;AAH00725;AAP35875;ABK41892;BAG60680;CBX47435;CBX53853;EAW69074;EAW69075;NP_001243;P32970 Hs.501497;Hs.715224 2107691;2153355 STS-L08096;TNFSF7_1930.2 CD27L;CD27LG;TNFSF7 CD27 ligand;CD27-L;CD70 antigen;Ki-24 antigen;surface antigen CD70;tumor necrosis factor (ligand) superfamily, member 7;tumor necrosis factor ligand superfamily member 7 APPROVED protein-coding ENSG00000125726 11937 18515 602840 REVIEWED 1320264 CD72 CD72 molecule 9 9 p13.3 35599976 35608408 - 35609976 35618424 - 1580863;6480464;6907045 1711157;18071878;17121583;16047337;15588985;15489334;15459183;12882840;12477932;11466342;11114375;10820378;9740800;9590210;9110174;8806810;2141045;2044654;17786190;20100931;20237496;19913121;20628086;22606231;22111667;23268649 971 P21854;Q5T4Q7;Q5T4Q8;Q5TLG3 AB180952;AB180953;AB180954;AB180955;AB180956;AB180957;AB180958;AB180959;AB209587;ABBA01064989;AF283777;AK307305;AK309268;AK310093;AK310685;AK311283;AL357874;AMYH01019347;BC011734;BC030227;CH471071;DQ174771;EF064751;M54992;NM_001782 AAA36189;AAH30227;ABA55068;ABK41934;BAD72857;BAD72858;BAD72859;BAD72860;BAD72861;BAD72862;BAD72863;BAD72864;BAD92824;EAW58372;EAW58373;NP_001773;P21854 Hs.116481 1676558;1677318;2106981;2185528 CD72_7759;D11S4618;RH26484;RH98625 CD72b;LYB2 B-cell differentiation antigen CD72;CD72 antigen;OTTHUMP00000021342;lyb-2 protein-coding ENSG00000137101 1696 00118 107272 VALIDATED 1346600 CD79A CD79a molecule, immunoglobulin-associated alpha The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 19 19 q13.2 47073030 47077279 + 42381190 42385439 + 1580863;6480464;6907045;7240710 19243813;18160827;17701175;17374736;17350472;16271957;15591116;15492262;12651942;12477932;12403343;12186846;11909947;11907094;11449366;10748115;10540352;10438530;9561918;9531288;9418137;9120258;9110174;8747711;8666916;8656670;8207205;8144961;8125298;8077654;7989333;7927516;7916003;7643857;7592958;7539038;7516335;7514267;7512031;7500027;2463161;1940346;1881434;1591006;1569106;1538135;1534761;1446073;1395095;1292512;12886015;9183005;6196366;14499622;1729378;1639443;15174051;19573080;19883431;20237496;20102401;19913121;20628086;21324920;17878339;21822214;23264226 973 M0QX61;P11912 ABBA01040816;AC010616;AF283770;AK223371;AK315337;AMYH01009820;BC113731;BC113733;CH471126;JA738565;JA738567;L32754;M74721;M80462;M86921;NG_009619;NM_001783;NM_021601;S46706;S75217;S79248;U05259;X13451;X83540 AAA20495;AAA57274;AAA59556;AAA59557;AAA60270;AAB20812;AAB23558;AAC60653;AAG15590;AAI13732;AAI13734;ADR82885;BAD97091;BAG37737;CAA31802;CAA58523;CCF76935;CCF76936;EAW57075;EAW57076;NP_001774;NP_067612;P11912 Hs.631567 1661426;1677194;1743641;2217126;5120640;5120642 CD79A_3009;GDB:363615;GDB:363618;GDB:363621;RH49;STS-U05259 IGA;MB-1 B-cell antigen receptor complex-associated protein alpha chain;CD79a antigen (immunoglobulin-associated alpha);MB-1 membrane glycoprotein;ig-alpha;membrane-bound immunoglobulin-associated protein;surface IgM-associated protein APPROVED protein-coding ENSG00000105369 1698 00203 112205;613501 REVIEWED 1350471 CD74 CD74 molecule, major histocompatibility complex, class II invariant chain The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 5 5 q32 149761393 149772525 - 149781200 149792499 - 1580863;6480464;6907045 20357260;15194762;12970439;10981873;12782713;6324166;19592662;19131591;18941249;18842989;18828016;18719072;18684948;18178838;17959659;17567581;17142775;16678175;16618111;16542748;16428763;16107560;15972644;15845476;15688398;15489334;15475450;12477932;12058053;11927549;11897800;11754812;10748235;10022822;9843486;9752000;8574855;8397411;8343954;8316295;7519244;7477400;6982931;6955026;6586420;6576808;3866610;3459184;3132422;3036998;3001652;2507633;2391366;2121367;1448172;16454711;16365153;16439540;11593029;20646540;16242130;17045821;19423618;19665027;19845895;19849849;20198449;20443131;20820776;22659450;19913121;20628086;20864512;21228923;17192395;21543057;22952837;21832049;22935920;21417823;21423200;21059907;21792010;21890473;21906983;22039051;22216005;22611320;22042694;21748758;22069105;21945129;22178447;22942358;21988832;22689013;22889831;18438604;18524831;18596106;19327048;20012522;20463068;21068258;21922073;22761382 972 E7EQJ3;E7ER71;E7ESL3;H0YBZ2;H0YBZ8;Q8SNA0 ABBA01026281;AC011372;AC011388;AK292076;AK297889;AK300669;AK308929;AMYH01015707;BC018726;BC024272;BF796148;BT019505;CH471062;DC354760;K01144;M13560;M28588;M28589;M28590;NG_029730;NM_001025158;NM_001025159;NM_004355;X00497;X03339;X03340 AAA35996;AAA36033;AAA36304;AAA58655;AAH18726;AAH24272;AAO49820;AAV38312;ABM82931;ABM86120;BAF84765;BAG60210;BAG62354;CAA25192;CAA25193;CAA27046;CAA27047;EAW61727;EAW61728;EAW61729;EAW61730;EAW61731;NP_001020329;NP_001020330;NP_004346;P04233 Hs.436568 1667593;1679904;1794506;2125640;2179010;5127664 D5S2405;PMC316580P4;RH11594;RH11625;RH46360;RH93024 DHLAG;FLJ98970;HLADG;II;Ia-GAMMA HLA class II histocompatibility antigen gamma chain;HLA-DR antigens-associated invariant chain;HLA-DR-gamma;Ia-associated invariant chain;MHC HLA-DR gamma chain;OTTHUMP00000224283;OTTHUMP00000224284;OTTHUMP00000224285;OTTHUMP00000224286;OTTHUMP00000224288;OTTHUMP00000224338;gamma chain of class II antigens;ia antigen-associated invariant chain;ii;p33 APPROVED protein-coding ENSG00000019582 1697 00825 142790 REVIEWED 1352472 CD83P1 CD83 molecule pseudogene 1 6 p22.1 27528605 27529550 - 100128240;387033 ABBA01037999;AL021918;AMYH01016189;NG_022297 CD83P;HB15p;b34I8.3 APPROVED pseudo 13946 INFERRED 1604068 CD82 CD82 molecule This metastasis suppressor gene product is a membrane glycoprotein that is a member of the transmembrane 4 superfamily. Expression of this gene has been shown to be downregulated in tumor progression of human cancers and can be activated by p53 through a consensus binding sequence in the promoter. Its expression and that of p53 are strongly correlated, and the loss of expression of these two proteins is associated with poor survival for prostate cancer patients. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 p11.2 44543717 44597915 + 44587141 44641339 + 2289398;2289401;2289404;2289406;2289422;68869;2289425;2289399;2289403;2289405;2289390;2289391;2289400;2289402;2289407;6480464;6907045;7240710 15958618;14706010;12497033;15277499;10321446;9831222;15642213;12684410;12079303;17393117;17290345;15592684;12806379;11275982 15205336;1842498;7754374;19371633;19148553;19116362;19107873;19082457;19048121;18981120;18712725;18622748;18415123;18305955;18272501;18037895;18028322;17982617;17621632;17560548;17215249;17200188;17166843;16861889;16488391;16325219;15996322;15677461;15557282;15454569;15375577;15259074;15237426;14576349;12955496;12753720;12750295;12747469;12738793;12642901;12579280;12477932;12474542;21454613;11981820;11895916;11839793;11350933;11278880;11162423;10985391;10749879;10602019;10582691;10229664;9804823;9759843;9126478;8816400;8757325;8125298;7636191;2065333;1596907;1401919;16735575;10741407;15492270;15829968;22718295;20075392;16169070;17520389;17672940;19024519;19497983;19549254;19559406;19656997;19666408;19680475;19755988;19951590;20002769;20089858;20144992;20237496;16712791;19489224;16494006;21149584;21168384;21382346;17283532;23102249;21459729;22681921;21875585;21691075;21521534;21965773;21685244;21906983;22152691;21961244;22393164;22443383;22123080;22320990;22320993;22390300;22679510;20581239;22670173;23076981;23055153;23449627;11584299;12885763;17381240;17989173;18034776;18059278;18946087;19284574;20012524;20864363;22505724;9685355 3732 E9PJ45;E9PJ59;E9PJB7;E9PJC7;E9PJK9;E9PM43;E9PP61;H0YD57;P27701 ABBA01060770;AC010768;AK225410;AK225708;AK312677;AMYH01003523;AY303776;BC000726;BC001821;BT019761;BT019762;CB127804;CH471064;CR407650;CR542255;JA738773;JA738775;NG_023234;NM_001024844;NM_002231;S48196;U20770;U67266;U67274 AAB23825;AAC50133;AAC51205;AAH00726;AAH01821;AAP76181;AAV38566;AAV38567;ABM83228;ABM86427;BAG35558;CAG28578;CAG47051;CCF77039;CCF77040;EAW68063;EAW68064;EAW68065;NP_001020015;NP_002222;P27701 Hs.527778 1762839;1771896;2124461;5014051;5015619;5021872;5024039;5037552;7184045 D11S3114;D16S325;D8S2278;D8S2279;G02140;SHGC-146608;STS-X53795;sY3084 4F9;C33;GR15;IA4;KAI1;R2;SAR2;ST6;TSPAN27 C33 antigen;CD82 antigen;OTTHUMP00000232950;OTTHUMP00000232951;inducible membrane protein R2;kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4));metastasis suppressor Kangai-1;tetraspanin-27;tspan-27 APPROVED protein-coding 6210 09004 176807;600623 REVIEWED 730908 CD79B CD79b molecule, immunoglobulin-associated beta The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 17 17 q23 59359830 59363436 - 62006098 62009704 - 633033;1580863;6480464;6907045;7240710 9545642 7516335;8486355;18029348;18978465;17709424;17701175;17374736;17315213;16847312;15661909;15489334;12651942;12477932;12453414;12393534;12384401;11907094;11389892;9531288;9521881;9418137;9120258;8747711;8656670;8555489;8419481;8125298;8077654;7913081;7643857;7592958;7541024;7539038;7538118;21355953;7514267;7512031;1591006;1534761;10808179;12482395;12886015;7500027;21324920;19573080;19773279;20237496;19913121;20628086;20568250;22808296;17878339;21906983;19322201;20881960 974 P40259;Q6PIS4 ABBA01035315;AC127029;AK222954;AK223210;AK313583;AMYH01008552;AX775815;AX775817;BC002975;BC030210;BC032651;CH471109;JA738625;JA738627;JA738629;L27587;M80461;M89957;NG_007368;NM_000626;NM_001039933;NM_021602;S52229;S79249;U22954;X83538;X83539 AAA58387;AAA64459;AAA72424;AAA98831;AAB24822;AAC60654;AAH02975;AAH30210;AAH32651;BAD96674;BAD96930;BAG36353;CAA58522;CAE11607;CAE11608;CCF76965;CCF76966;CCF76967;EAW94227;EAW94228;EAW94229;EAW94230;EAW94231;EAW94232;NP_000617;NP_001035022;NP_067613;P40259 Hs.89575 1687738;1794892;2217128 CD79B_3258;PMC83897P1;RH93822 AGM6;B29;IGB B-cell antigen receptor complex-associated protein beta chain;B-cell-specific glycoprotein B29;CD79b antigen (immunoglobulin-associated beta);Ig-beta;immunoglobulin-associated B29 protein APPROVED protein-coding ENSG00000007312 1699 00922 147245;612692 REVIEWED 737082 CD80 CD80 molecule The protein encoded by this gene is a membrane receptor that is activated by the binding of CD28 or CTLA-4. The activated protein induces T-cell proliferation and cytokine production. This protein can act as a receptor for adenovirus subgroup B and may play a role in lupus neuropathy. [provided by RefSeq, Aug 2011] 3 3 q13.3-q21 120725830 120761171 - 119243140 119278481 - 1580863;2307200;4892562;5132623;5132619;5132620;5132622;5132621;5132624;5132270;4892292;6480464;6902939;6902902;6902906;6902903;6902898;6893671;727266;6893670;6893665;6902936;6893647;6902937;6902938;6893669;6907045 11160314;20949109;10604996;21440530;21352203;21108691;21051864;19658094;19922665;19729666;22068168;9379015;22004797;20653937;20876353;10078962;21310664;22192168;10712436;22917707;10657664;10590132;21494618 22561518;15034022;14978077;14975605;14871408;14692664;14530356;12905492;12878356;12860928;12829919;12829914;12800259;12798307;12606712;12569387;12513711;12477932;12444120;12372936;12355442;12352894;12149421;12100477;12097397;12067755;12015893;11936473;11830501;11826754;11751963;9915850;1370389;19433065;19258923;19240061;19056875;19012493;18929847;18802089;18676680;18585785;18577795;18546634;18026115;18005680;17989345;17977894;17953528;17925605;17703412;17524139;17323353;17309825;17201120;16690948;16621031;16521215;16237760;16237059;16002699;15942292;15628695;15598660;15489334;15377288;15342556;15272203;15254772;15254713;15201958;15163715;15110532;15063762;11741888;11726649;11279502;11222911;11196673;11169444;11168574;11168518;11137584;11123305;11045378;10807504;10661405;9286703;9282998;9250865;8814244;8361751;7545666;7527824;7499425;2794510;1714935;1377173;8086129;7541827;17077296;16454711;16272310;16177101;7589092;15956545;15611322;15610849;20145927;12660731;16818765;17605869;19170196;19550123;19625176;19692168;19811307;19817957;20066438;20118277;20190752;20237496;20331378;20503287;9032261;20601595;21982860;23470321;20716621;20802378;20884055;21048031;20140740;20979791;21399635;21469977;21474713;20034904;22704122;18928583;21288140;21555531;23289444;21697455;22074996;22142817;21414970;23000144;23273568;18945465;19149577;19275586;19458171;19828628;21778700;22103833 941 A0N0P2;P33681;Q5DTA9;Q5DTB0 ABBA01061582;ABBA01061583;AC073352;AK292129;AMYH01013419;AY081815;AY197777;AY197778;BC042665;BP225173;CH471052;EF064750;M27533;M83077;NM_005191;U72535 AAA36045;AAA58390;AAC51754;AAH42665;AAL89819;AAO39208;AAO39209;ABK41933;BAF84818;EAW79564;EAW79565;NP_005182;P33681 Hs.838 1645107;1679790;1754815;2155589;2170824 D3S2834E;D3S4161;RH65151;SHGC-12394;SHGC-141736 B7;B7-1;B7.1;BB1;CD28LG;CD28LG1;LAB7 B-lymphocyte activation antigen B7;CD80 antigen (CD28 antigen ligand 1, B7-1 antigen);CTLA-4 counter-receptor B7.1;OTTHUMP00000215214;OTTHUMP00000215215;T-lymphocyte activation antigen CD80;activation B7-1 antigen;cd80 antigen;costimulatory factor CD80;costimulatory molecule variant IgV-CD80 APPROVED protein-coding ENSG00000121594 1700 00202 112203 REVIEWED 1348494 CD8BP CD8b molecule pseudogene 2 2 q12.1 106470165 106490647 + 107103824 107124137 + 8575821;8436166;8346216;3860845;1541829 927 A6NJW9 ABBA01043974;AC108868;AMYH01010845;NG_002423 A6NJW9 1648194;2145898 D2S2568;RH70958 CD8B2 cd8 antigen, beta polypeptide 2, pseudogene (p37) pseudo 1708 INFERRED 731700 CD81 CD81 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. [provided by RefSeq, Jul 2008] 11 11 p15.5 2355123 2375225 + 2398547 2418649 + 734728;6480464;6907045;7240710 11781363 11273649;11226150;11087758;10459022;10229664;9794763;9403053;9360996;9360995;8816400;8630057;8168850;8039242;7690834;2398277;1860863;1695320;1650385;1383329;16940516;16735575;16682056;16533950;18713730;18851979;12175627;9804823;7636191;10741407;10846074;12604806;11080483;12522210;10729140;15136562;11504738;14676841;18029348;19573080;19476617;19458002;19328198;19284574;19148942;19030166;18981120;18829747;18805782;18799285;18676680;18579606;18566382;18523555;18466772;18382656;18355410;18337570;17942559;17941058;17827389;17784784;17522207;17507469;17457918;17407154;17329343;17194487;17166843;17079294;17079281;17015697;16912317;16735696;16641285;16352525;16339892;16289162;16169070;15956553;15767432;15670777;15500552;15489334;15294858;15280458;15123813;14966136;14728804;14722300;14607925;12970454;12913001;12645944;12597781;12519228;12492902;12483205;12477932;12471100;12437138;12421929;12368358;12210407;12209363;12036870;11781364;11739647;11673522;11278880;21526201;22560863;19170196;19559406;19625176;19626614;19654214;19692168;19755988;19773279;19817957;19828092;19830727;19846809;19901060;20004001;20089661;20237408;20237496;20331378;20588308;20375010;20568250;21048031;21103663;21151997;21241315;21343309;21428934;21428935;21737455;22939629;22855500;21551950;21677313;22074322;23226274;21139048;21890473;21906983;23126643;22355327;21963094;21988832;22897233;23264468;23349980;23463506;11584299;12885763;17381240;17989173;18034776;18059278;18076669;18321974;18369466;18945959;19426143;19602278;19802344;19894777;19912576;20012524;20727121;21060818;21705339;21813604;22808325;22830021;22980332;9685355;22333880;22740401 975 A6NMH8;E9PIF1;E9PJK1;E9PM31;E9PPF5;E9PQV4;E9PRJ8;H0YDJ9;H0YDL9;H0YEE2;P60033 AB209380;ABBA01032092;ABBA01032093;AC124057;AC129929;AMYH01003321;BC002978;BC093047;BG397506;BQ709484;BT019507;BT019508;CB055265;CH471158;EF064749;M33680;NG_023386;NM_004356 AAA36663;AAH02978;AAH93047;AAV38314;AAV38315;ABK41932;ABM82762;ABM82775;ABM85948;BAD92617;EAX02507;EAX02508;NP_004347;P60033 Hs.54457 1769794;2171408;2185147 GDB:678191;SHGC-57855;WI-18911 CVID6;S5.7;TAPA1;TSPAN28 26 kDa cell surface protein TAPA-1;CD81 antigen;CD81 antigen (target of antiproliferative antibody 1);OTTHUMP00000011528;OTTHUMP00000011529;OTTHUMP00000229004;OTTHUMP00000229005;OTTHUMP00000229006;OTTHUMP00000229008;OTTHUMP00000229358;OTTHUMP00000229392;cd 81 antigen;target of antiproliferative antibody 1;target of the antiproliferative antibody 1;tetraspanin-28;tspan-28 APPROVED protein-coding ENSG00000110651 1701 08924 186845;613496 REVIEWED 1349028 CD84 CD84 molecule This gene encodes a membrane glycoprotein that is a member of the signaling lymphocyte activation molecule (SLAM) family. This family forms a subset of the larger CD2 cell-surface receptor Ig superfamily. The encoded protein is a homophilic adhesion molecule that is expressed in numerous immune cells types and is involved in regulating receptor-mediated signaling in those cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] 1 1 q24 158782419 158815889 - 160510884 160549306 - 6480464 11414741;21145461;9310491;7797269;18243321;17563375;16710414;16037392;15489334;15245368;12962726;12928397;12621057;12477932;12115647;11689425;11564780;11477068;11389028;11313386;11238035;10746783;10698700;3008886;17192395;22068234;23555300 8832 Q8WLP1;Q96RX1 ABBA01016612;AF054815;AF054816;AF054817;AF054818;AF081189;AF114490;AJ223324;AK296290;AK313496;AL138930;AMYH01001453;BC020063;CA448708;CH471121;CR541847;CR933666;NM_001184879;NM_001184881;NM_001184882;NM_003874;U82988;U96627;Y12632 AAB84364;AAD04232;AAD13155;AAF21721;AAF21722;AAF21723;AAF21724;AAH20063;AAK68906;ABM82634;ABM85798;BAG36278;BAH12304;CAA11264;CAA73181;CAG46645;CAI45963;EAW52707;EAW52708;EAW52709;EAW52710;EAW52711;EAW52712;NP_001171808;NP_001171810;NP_001171811;NP_003865;Q9UIB8 Hs.398093 1771542;2186483;5016478;5021369;5022651 AL009296;D11S2921;G16260;GDB:434012;L17796 DKFZp781E2378;LY9B;SLAMF5;hCD84;mCD84 CD84 antigen (leukocyte antigen);OTTHUMP00000024394;OTTHUMP00000024395;OTTHUMP00000024396;OTTHUMP00000024397;OTTHUMP00000024398;SLAM family member 5;cell surface antigen MAX.3;hly9-beta;leucocyte differentiation antigen CD84;leukocyte antigen CD84;leukocyte differentiation antigen CD84;signaling lymphocytic activation molecule 5 APPROVED protein-coding ENSG00000066294 1704 05151 604513 VALIDATED 1320150 CD83 CD83 molecule The protein encoded by this gene is a single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen presentation. A soluble form of this protein can bind to dendritic cells and inhibit their maturation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 6 6 p23 14225844 14245128 + 14117487 14137149 + 1580863;6480464 18056445;15956545;1378080;8422464;9310491;19321495;19234177;19195701;19130553;18755511;18625638;18292234;17628801;17561858;17535098;17469160;17428858;17197902;17178712;16806233;16484227;16344560;16012714;15905506;15721284;15489334;15454113;15340161;15320871;14962896;14687618;12857898;12594843;12477932;12182451;12072358;11751963;11238630;10567699;9799334;9417921;8125298;7706722;15611322;21469977;20566323;20861805;19317050;21076370;19257981;20118277;20237496;22134374;22065790;23339870;22446963;21963094;21988832;23251661;17360657;19828628 9308 Q01151 ABBA01022139;AK223315;AK290426;AK307059;AK309541;AL022396;AL133259;AMYH01016100;AMYH01016101;BC004351;BC030830;BT019498;CH471087;CQ815388;CQ840966;CR457019;DA532022;DB178710;HI574018;HI574020;NG_030372;NM_001040280;NM_001251901;NM_004233;S53354;Z11697 AAB25085;AAH30830;AAV38305;ABM83282;ABM86489;BAD97035;BAF83115;CAA77755;CAG32923;CAG33300;CAH05711;CBX47498;CBX47499;EAW55351;EAW55352;EAW55353;NP_001035370;NP_001238830;NP_004224;Q01151 Hs.595133 1674361;2115661;2171311 D6S1838;RH46624;WI-21167 BL11;HB15 B-cell activation protein;CD83 antigen;CD83 antigen (activated B lymphocytes, immunoglobulin superfamily);OTTHUMP00000016057;cell surface protein HB15;cell-surface glycoprotein;hCD83 APPROVED protein-coding ENSG00000112149 1703 05170 604534 REVIEWED 736307 CD8B CD8b molecule The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen, acting as a coreceptor, and the T-cell receptor on the T lymphocyte recognize antigens displayed by an antigen presenting cell (APC) in the context of class I MHC molecules. The functional coreceptor is either a homodimer composed of two alpha chains, or a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 beta chain isoforms. Multiple alternatively spliced transcript variants encoding distinct membrane associated or secreted isoforms have been described. A pseudogene, also located on chromosome 2, has been identified. [provided by RefSeq, May 2010] 2 2 p12 86895971 86942549 - 87042460 87089047 - 6480464;6484113;6907045 11131152;2493728;9830036;16103193;3145195;18490743;12702212;12477932;12459555;12215456;11937547;10809759;10623829;9550407;8436166;3860845;3264320;3145196;3114136;2536941;2111591;1541829;15980863;21685912;16344560;19768696;20379614;21954283;22013062;19322201;18473783;19149577;21543478;21922073;21936714;22844345 926 E9PD41;Q9UDB5 ABBA01075791;ABBA01075792;ABBA01075793;ABBA01075794;ABBA01075795;AC111200;AC112696;AK303360;AK303595;AMYH01010508;AW296309;AW611750;AY032722;BC100911;BC100912;BC100913;BC100914;BP392114;BQ004743;DB223179;DC405359;JA738613;JA738615;JA738617;JA738619;M17514;M36712;NM_001178100;NM_004931;NM_172101;NM_172102;NM_172213;S55731;S87075;S87083;S87087;S87090;X13444;X13445;X13446;X13452;Y00805 AAA35664;AAA52283;AAB21668;AAB21669;AAB21670;AAB21671;AAB21672;AAD13877;AAI00912;AAI00913;AAI00914;AAI00915;AAK91556;AAK91557;AAY24019;BAG64420;BAG64610;CAA31795;CAA31796;CAA31797;CAA31803;CAA68750;CCF76959;CCF76960;CCF76961;CCF76962;NP_001171571;NP_004922;NP_742099;NP_742100;NP_757362;P10966 Hs.405667 1648194;2145898;2162329;5015861;5017999;5022578;7185938 D10S16;D1S1423;D2S2568;EMBRA118;RH70958;SHGC-11929 CD8B1;LYT3;Leu2;Ly3;MGC119115;P37 CD8 antigen, beta polypeptide 1 (p37);OTTHUMP00000160762;OTTHUMP00000160763;OTTHUMP00000198673;OTTHUMP00000203521;T lymphocyte surface glycoprotein beta chain;T-cell surface glycoprotein CD8 beta chain;cd8 antigen, beta chain APPROVED protein-coding ENSG00000172116 1707 01725 186730 REVIEWED 1604658 CD86 CD86 molecule This gene encodes a type I membrane protein that is a member of the immunoglobulin superfamily. This protein is expressed by antigen-presenting cells, and it is the ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic T-lymphocyte-associated protein 4. Binding of this protein with CD28 antigen is a costimulatory signal for activation of the T-cell. Binding of this protein with cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation and diminishes the immune response. Alternative splicing results in several transcript variants encoding different isoforms.[provided by RefSeq, May 2011] 3 3 q21 123256911 123322673 + 121774209 121839990 + 2313906;2313911;2313930;2313917;2313932;2313920;2313939;2307206;2313927;4892202;4892210;2313025;4892207;4892209;4892211;4892199;4892295;4892277;4892293;4892246;4892570;4892227;4892339;4892280;4892554;4892555;4892258;4892281;4892343;4892229;4892291;4892292;4892553;4892237;4891504;4892294;4892329;4892562;4892560;6480464;6902938;6907045 18316361;16232222;8993020;15356107;8816976;12742378;8899799;11266944;10679081;9551945;20113783;19053043;20451260;20233162;19907296;20668438;19197726;20941750;19693657;20171363;19933871;10477557;17713660;17513529;16790753;9449507;17947667;20395561;17088138;18381617;20046053;19729666;16861672;18360875;20732370;19282343;18292558;20949109;16272336;10590132 12015893;11986949;11826754;11823047;11751963;11726649;11714768;11702979;11496240;11279501;11238115;11207262;11196673;11169444;11162656;11123305;11029388;11021528;10886401;10464129;9573027;9250865;7694153;7542604;7541777;7527824;7520767;7495740;7489738;17077296;16272310;16177101;15956545;15611322;9915850;7694363;7513726;19299714;19258923;19012493;18941200;18676680;18580477;18577795;18506362;18322188;18301333;18069758;18005680;17989345;17977894;17925605;17919231;17703412;17622942;17524139;17386046;16712644;16690948;16339520;16223675;16115907;16002699;15942292;15895390;15628695;15623548;15489334;15280476;15163715;15110532;15059478;15045639;15034022;15019278;14978077;14975605;14871408;14727087;14692664;12905492;12878356;12829914;12672403;12606712;12582153;12513711;12486098;12477932;12372936;12213904;12187923;12100033;12097397;12071705;22732586;22371880;21469977;12660731;16818765;17605869;19170196;19257981;19430862;19550123;19625176;19692168;19735272;19852851;20066438;20067533;20100932;20118277;20230296;20237496;20331378;20380573;20433886;20503287;9032261;17963596;20802378;20884055;20971123;21048031;19913121;20601595;20628086;20979791;20212510;22962607;19086656;11756476;16344560;21474713;20019769;20388394;21540807;21525579;21628959;21896490;21563968;21911468;22199280;22074996;22659416;22182632;22246628;21833088;22190364;21870962;22142817;22379101;21988832;22821131;21982860;23175469;23289444;23470321;18945465;19149577;19275586;19828628;20012528;21778700;21922073;22103833;22558273;22808111 942 A8K632;C9JXS1;F8W8W1;H7C4F8;Q6GTS4 ABBA01016472;ABBA01016473;AC068630;AK291497;AK294663;AK301237;AK313103;AK316203;AMYH01013429;BC040261;BX093060;CD705810;CH471052;CR541844;DA619360;EF064748;L25259;NG_029928;NM_001206924;NM_001206925;NM_006889;NM_175862;NM_176892;U04343;U17722 AAA58389;AAA86473;AAB03814;AAH40261;ABK41931;ABM84713;ABM92234;BAF84186;BAG35926;BAH11839;BAH13438;BAH14574;CAG46642;EAW79493;EAW79494;NP_001193853;NP_001193854;NP_008820;NP_787058;NP_795711;P42081 Hs.171182 1649198;1652076;1667695;1697368;1758301;1795524;2127943 CD86_510;D3S2989;G31041;RH102182;RH11462;SGC35242;SHGC-147993 B7-2;B7.2;B70;CD28LG2;LAB72;MGC34413 B-lymphocyte activation antigen B7-2;B-lymphocyte antigen B7-2;B7-2 antigen;BU63;CD28 antigen ligand 2;CD86 antigen (CD28 antigen ligand 2, B7-2 antigen);CTLA-4 counter-receptor B7.2;FUN-1;OTTHUMP00000215511;OTTHUMP00000215512;OTTHUMP00000215513;OTTHUMP00000215514;OTTHUMP00000215515;T-lymphocyte activation antigen CD86;activation B7-2 antigen APPROVED protein-coding ENSG00000114013 1705 03011 601020 REVIEWED 1347739 CD99L1 CD99 antigen-like 1 7833914 4196 7083 735285 CD8A CD8a molecule The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class I MHC molecules. The coreceptor functions as either a homodimer composed of two alpha chains or as a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 alpha chain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 2 2 p12 86865239 86871638 - 87011728 87035519 - 6480464;6484113;6907045;7240710 11131152;2470098;2493728;9830036;2496167;18956469;18833003;18695005;18650384;18625635;18483277;18418773;18398508;18156204;18089323;17950725;17678538;17658607;16821115;16818755;16344560;15975922;15927673;15078895;14702039;14559993;14500983;12899833;12594841;12477932;12215456;12124384;11937547;11914379;11729321;11435463;11140838;11102443;10843658;10809759;10623829;10562325;10490978;10444591;10022843;9804427;9790534;9550407;9366416;9331948;9177355;8127870;6605969;6440142;3936473;3918796;3871356;3145195;2877435;2701945;2536941;2509342;1908512;1834739;22143984;1676132;1547508;1541829;16454711;16354571;11251883;1377690;1831127;21430066;19751272;19752186;19768696;20053942;20237496;20644117;20704820;20682852;21142701;21257970;20850477;21518761;22185976;21645925;21818290;17213291;21813446;21948982;21954283;22045731;23185362;22001684;22013062;22551306;21988832;23400868;23225889;19149577;21543478;21936714;22103833;22175768;22345473;22811543;22844345 925 B4DT80;B8ZZZ4;P01732;Q6ZVS2;Q8TAW8 AA668685;ABBA01075791;AC064848;AC112696;AK097942;AK124156;AK300089;AMYH01010507;AY039664;BC025715;CH471053;DA075688;DB129686;M12824;M12828;M26313;M26314;M26315;M27161;NG_011608;NM_001145873;NM_001768;NM_171827;NR_027353 AAA59674;AAA61133;AAA79217;AAA79218;AAB04637;AAH25715;AAK72403;AAX88864;ABM84249;ABM87637;ABM87638;BAC85789;BAG53555;BAG61892;EAW99438;EAW99439;EAW99440;EAW99441;NP_001139345;NP_001759;NP_741969;P01732 Hs.85258 1741477;1771174;2178221 D2S2642;GDB:181237;SHGC-6997 CD8;Leu2;MAL;p32 CD8 antigen, alpha polypeptide (p32);Leu2 T-lymphocyte antigen;OKT8 T-cell antigen;OTTHUMP00000160760;OTTHUMP00000160764;OTTHUMP00000203527;OTTHUMP00000203528;OTTHUMP00000203721;T cell co-receptor;T-cell antigen Leu2;T-cell surface glycoprotein CD8 alpha chain;T-lymphocyte differentiation antigen T8/Leu-2;T8 T-cell antigen;cd8 antigen, alpha chain APPROVED protein-coding ENSG00000153563 1706 01737 186910;608957 REVIEWED 732702 CD9 CD9 molecule This gene encodes a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Tetraspanins are cell surface glycoproteins with four transmembrane domains that form multimeric complexes with other cell surface proteins. The encoded protein functions in many cellular processes including differentiation, adhesion, and signal transduction, and expression of this gene plays a critical role in the suppression of cancer cell motility and metastasis. [provided by RefSeq, Jan 2011] 12 12 p13.3 6179816 6217688 + 6309482 6347437 + 734730;1580863;2289405;2326197;2289390;2326208;2326206;2326207;2326200;6480464 10634790;12079303;17406028;17393117;11505398;14695144;14534881;16132579 11278880;11504738;7511626;8478605;14575715;2037603;10515286;6198179;19458002;19330835;19254692;18981120;18710926;18544636;18541721;18508921;18483358;18247373;18000614;17668233;17644758;17582603;17522207;17407154;17203208;17018612;17015697;16951553;16900214;16682943;16537545;16491954;16297202;16144798;16128989;16103120;15985154;15941914;15591117;15489334;15476162;15389525;15226408;15196249;15145525;15047125;14556650;12579280;12569360;12477932;12453879;12411441;12175627;12086470;12036870;11959120;11920609;11858824;11846885;11739647;11735113;11325968;11238109;11204565;11087758;10711425;10694273;10518536;10459022;10229664;10227388;10065872;9813091;9812906;9804823;9360996;9295027;9111230;8630057;8486348;2358073;1997380;1939101;1879540;1840589;1720807;1377690;16940516;16735575;10741407;15492270;10429193;17845760;20118909;20547009;20566742;16341674;19777564;19896186;19955810;20227387;20237496;8194524;19559406;20940407;20574531;20727121;20862371;20937409;21036922;21063023;21161334;6792721;8521390;9133457;21244575;17192395;21103663;23142642;21428940;21241315;21549094;20422979;23225418;23291167;21365281;21674799;22613496;21521534;17997888;19692500;22095071;21139048;21906983;22592495;21963094;23223239;19322201;20581239;22139419;17989173;18034776;18321974;18725936;19426143;19602278;19802344;19894777;21813604;22980332 928 A6NNI4;F5GXT1;G8JLH6;P21926 AB079244;ABBA01017634;AC006057;AI003581;AK296332;AK296894;AK298431;AK308700;AK309527;AK311020;AK315219;AMYH01004202;AY422198;AY423720;AY966455;BC011988;BG291377;BM763066;CH471116;HM245393;JA738701;L08119;L08120;L08121;L08122;L08123;L08124;L34068;M38690;NM_001769;S60489;X60111 AAA51954;AAA51955;AAA51956;AAA51957;AAA51958;AAA51959;AAA59982;AAA80320;AAC60586;AAH11988;AAQ87878;AAS00483;AAX78197;ABM82240;ABM85424;BAE71132;BAG59021;BAG59453;BAG60652;CAA42708;CCF77003;EAW88812;EAW88813;NP_001760;P21926 Hs.114286;Hs.712104 1657643;1733626;1775869;1782588;2127694;2139043;2145984;2154826;2178699;2217132;5094038 A010B11;CD9_3002;D12S1005;D12S1887;G10611;G33070;GDB:384746;RH44617;SHGC-132041;SHGC-34900;STS-M38690 5H9;BA2;BTCC-1;DRAP-27;FLJ99568;GIG2;MIC3;MRP-1;P24;TSPAN-29;TSPAN29 5H9 antigen;BA-2/p24 antigen;CD9 antigen;CD9 antigen (p24);OTTHUMP00000041574;OTTHUMP00000041575;OTTHUMP00000041576;OTTHUMP00000238624;antigen defined by monoclonal antibody 602-29;cell growth-inhibiting gene 2 protein;growth-inhibiting gene 2 protein;leukocyte antigen MIC3;motility related protein;motility related protein-1;motility-related protein;p24 antigen;tetraspanin-29;tspan-29 APPROVED protein-coding ENSG00000010278 1709 00880 143030 REVIEWED 1343806 CD96 CD96 molecule The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 3 q13.13-q13.2 109660587 109770891 + 112743616 112853896 + 111260926 111371206 + 1580863;6480464;7240710 1313846;15034010;19056733;17847009;17576927;12477932;9845376;20237496;21685187;21729528;22879978;23272144 10225 E9PEJ1;F8WDV3;H7C4F0;P40200;Q8WUE2 ABBA01061670;ABBA01061671;AC055748;AC092916;AK290719;AK315237;AL833681;AMYH01013389;AW341041;BC020749;BC027914;CH471052;NG_012156;NM_005816;NM_198196 AAH20749;BAF83408;BAG37664;CAI46155;EAW79696;EAW79697;EAW79698;NP_005807;NP_937839;P40200 Hs.142023 1336105;1678449;1784852;2134760;2142721;5015619;5022578;5037552 D11S3114;D1S1423;D3S1572;D8S2279;G15945;RH41685;SHGC-155976;STS-M88282 DKFZp667E2122;MGC22596;TACTILE CD96 antigen;OTTHUMP00000214642;OTTHUMP00000214643;OTTHUMP00000214645;T cell activation, increased late expression;T-cell surface protein tactile;cell surface antigen CD96;t cell-activated increased late expression protein APPROVED protein-coding ENSG00000153283 16892 06916 211750;606037 REVIEWED 1351917 CD93 CD93 molecule The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein has been found to interact with moesin, a protein known to play a role in linking transmembrane proteins to the cytoskeleton and in the remodelling of the cytoskeleton. [provided by RefSeq, Jul 2008] 20 20 p11.21 23007993 23014977 - 23059993 23066977 - 1580863;6480464 11781389;15459234;15819698;9047234;11994479;10092817;19372141;19344414;19166692;18834607;18599554;18094537;16381901;15489336;15489334;14702039;12891708;12477932;12213329;12140365;11780052;11256614;11204562;11086025;11076863;10648005;10430665;9777410;9476117;9469455;9136074;8710908;8062452;2212670;1377218;17474147;19423540;19796797;20237496;20406964;20438785;20512406;22206251;21768350;21332844;23268996;23272129;21988832;23251661 22918 Q9NPY3 AB209895;ABBA01016174;AJ295142;AK056764;AK299957;AL118508;AMYH01011775;BC028075;CH471133;NM_012072;U94333 AAB53110;AAH28075;ABM81981;ABM85160;BAD93132;BAG61784;CAC82720;CAL38160;CAL38627;EAX10171;NP_036204;Q9NPY3 Hs.97199 1661514;1665011;1690079;1795454;2128663 C1QR1_1469;D20S1017;RH48371;RH91421;STS-W72082 C1QR1;C1qR(P);C1qRP;CDw93;ECSM3;MXRA4;dJ737E23.1 C1q receptor 1;C1q/MBL/SPA receptor;C1qR;CD93 antigen;OTTHUMP00000030419;complement component 1 q subcomponent receptor 1;complement component 1, q subcomponent, receptor 1;complement component C1q receptor;matrix-remodeling-associated protein 4;matrix-remodelling associated 4 APPROVED protein-coding ENSG00000125810 15855 00396 120577 REVIEWED 1348574 CDAN2 congenital dyserythropoietic anemia, type II 7240710 9345103 980 1714 224100 735542 CD99L2 CD99 molecule-like 2 This gene encodes a cell-surface protein that is similar to CD99. A similar protein in mouse functions as an adhesion molecule during leukocyte extravasation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] X X X q28 150182357 150315225 - 149685467 149817837 - 149934809 150067289 - 6480464 12477932;11230166;16381901;15489336;14702039;12975309;12706889;11076863;18163232 83692 H0Y4H3;Q8TCZ0 ABBA01037155;ABBA01037156;ABBA01037157;ABBA01037158;ABBA01037159;ABBA01037160;ABBA01037161;ABBA01037162;ABBA01037163;ABBA01037164;ABBA01037165;ABBA01037166;ABBA01037167;ABBA01037168;AF002223;AF274573;AK023776;AK024278;AK098810;AK125020;AK126859;AK290200;AK291375;AK293244;AK295217;AL136580;AMYH01023216;AMYH01023217;AY078165;AY078166;AY078167;AY358837;BC007569;BC013029;BC019857;BC025729;BC030536;CH471169;DC323066;NG_021320;NM_001184808;NM_001242614;NM_031462;NM_134445;NM_134446 AAH07569;AAH13029;AAH25729;AAH30536;AAL86617;AAL86618;AAL86619;AAQ89196;ABM82248;ABM85432;BAF82889;BAF84064;BAG54124;BAG56778;BAG58211;CAB66515;CAL38481;CAL38661;EAW99389;EAW99390;EAW99391;EAW99392;EAW99393;EAW99394;EAW99395;EAW99396;NP_001171737;NP_001229543;NP_113650;NP_604394;NP_604395;Q8TCZ2 Hs.522805 1669084;1702420;1703140;1846996;2141484;2186345;5095086 A007J06;CD99L2;DXS903;DXS911;RH78121;WI-12644;WI-4154 CD99B;DKFZp761H2024;MIC2L1 CD99 antigen-like protein 2;MIC2-like protein 1;OTTHUMP00000026059;OTTHUMP00000026060;OTTHUMP00000214875 APPROVED protein-coding ENSG00000102181 18237 300846 REVIEWED 1350236 CDAN3 congenital dyserythropoietic anemia, type III 7240710 7711721 981 1334614;7186364 D15S114;D15S125 1715 1351187 CDB2 corneal dystrophy of Bowman's layer type II (Thiel-Behnke) 7240710 9403072 982 1337532;2127482 D10S1239;D10S1671 1716 602082 1322377 CDA cytidine deaminase This gene encodes an enzyme involved in pyrimidine salvaging. The encoded protein forms a homotetramer that catalyzes the irreversible hydrolytic deamination of cytidine and deoxycytidine to uridine and deoxyuridine, respectively. It is one of several deaminases responsible for maintaining the cellular pyrimidine pool. Mutations in this gene are associated with decreased sensitivity to the cytosine nucleoside analogue cytosine arabinoside used in the treatment of certain childhood leukemias. [provided by RefSeq, Jul 2008] 1 1 p36.2-p35 20788031 20817988 + 20915444 20945401 + 1580863;2316364;2316365;6480464;6907045 17194903;18347182 7923172;9596658;15689149;16303324;19293806;18775979;18762567;18600531;18538445;18537153;17640070;17479107;17464349;16710414;16507781;16446974;16304576;15713780;15489334;14983087;14744791;14565461;14565460;12844405;12477932;12113294;12107413;10497201;9878810;8422236;8001985;53069;12651944;17207965;20890066;20563566;20608756;20665488;16169070;19035178;19458626;19536092;19889077;19898482;19941076;20028759;20045991;20173083;20196672;20213492;20453000;20637228;20211060;21332653;22592598;21538122;21325291;22939629;21652582;21858090;21987572;22884143;22304580;22052224;21625252;21963094;22546611 978 P32320;Q71UE9 ABBA01059784;ABBA01059785;ABBA01059786;ABBA01059787;AF061655;AF061656;AF061657;AF061658;AF095644;AJ000474;AL391357;AMYH01000322;AY634312;BC048284;BC054036;CD675458;CH471134;L27943;NM_001785;S52873 AAA57254;AAB24946;AAC69599;AAD15828;AAH54036;AAT47715;ADQ33051;CAA04113;EAW94931;EAW94932;EAW94933;NP_001776;P32320 Hs.466910 1660558;1853816;2110309;2184805;5117092 AL009683;CDA__4531;D13S1652;GDB:435475;SHGC-74413 CDD OTTHUMP00000002883;cytidine aminohydrolase;cytidine deaminase;cytosine nucleoside deaminase;small cytidine deaminase APPROVED protein-coding ENSG00000158825 1712 11744 123920 REVIEWED 1344139 CD99 CD99 molecule The protein encoded by this gene is a cell surface glycoprotein involved in leukocyte migration, T-cell adhesion, ganglioside GM1 and transmembrane protein transport, and T-cell death by a caspase-independent pathway. In addition, the encoded protein may have the ability to rearrange the actin cytoskeleton and may also act as an oncosuppressor in osteosarcoma. Cyclophilin A binds to CD99 and may act as a signaling regulator of CD99. This gene is found in the pseudoautosomal region of chromosomes X and Y and escapes X-chromosome inactivation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2013] X;Y X;Y p22.32 and Yp11.3 2619228 2669350 + 2559228 2609350 + 1580863;6480464 2479542;2465491;19307784;19289593;18849489;18552083;17652531;17471235;17464179;17213182;17202377;16984917;16825498;16713569;16614706;16421247;16361803;16189514;15716602;15528994;15489334;15469477;15388255;15359120;15184883;14744088;14646598;14623115;12832073;12681511;12526082;12508122;12477932;12216109;12172043;11290771;10941840;9720506;9670951;7506950;7464908;6540985;4065101;4058580;3472717;3460334;3442403;2934738;2877492;2456574;20184665;21196719;19723899;19901887;20197622;20483773;20217126;20453109;22864685;21566515;23145531;21775056;22392539;23333754;21267687;22083306;21139048;21890473;22189791;22020966;21988832;9278313;23152061;22505724 4267 A6NGF6;A6NJT9;A8MQT7;H7C2F2;P14209 ABBA01038608;ABBA01038609;AC006209;AK313617;AMYH01022014;BC002584;BC003147;BC010109;BC021620;BC024310;CH471074;CR450286;DT216927;HI179154;J03841;M16279;NG_009174;NM_001122898;NM_001277710;NM_002414;U82164;X16996 AAA02999;AAA59848;AAB58501;AAH02584;AAH03147;AAH10109;AAH21620;AAH24310;ABM82838;BAG36379;CAA34863;CAG29282;CBX53885;EAW98697;EAW98698;EAW98699;EAW98700;NP_001116370;NP_001264639;NP_002405;P14209 Hs.653349 1338178;1688851;1703138;1732463;1742157;1742923;1743233;2143157;2188091;2188097;2188107;2217130 CD99_2912;DXYS228;DXYS75;G66051;G66054;G66059;GDB:192493;GDB:215809;GDB:309156;MIC2;RH38670;WI-8991 HBA71;MIC2;MIC2X;MIC2Y;MSK5X 12E7;CD99 antigen;E2 antigen;MIC2 (monoclonal antibody 12E7);OTTHUMP00000022840;OTTHUMP00000022842;OTTHUMP00000022843;OTTHUMP00000022844;T-cell surface glycoprotein E2;antigen identified by monoclonal 12E7, Y homolog;antigen identified by monoclonal antibodies 12E7, F21 and O13;surface antigen MIC2 APPROVED protein-coding ENSG00000002586 7082 02434;02465 313470;450000 REVIEWED 1323516 CDADC1 cytidine and dCMP deaminase domain containing 1 13 13 13 q14.2 30877932 30923465 + 48720099 48765619 + 49822047 49867622 + 6480464 16955368;12477932;11752456;16344560 81602 F2Z2H0;F2Z2J8;G8JLM2;H0Y447;Q9BWV3 ABBA01051015;AK297400;AK312835;AL137554;AL138875;AMYH01005107;AV648588;AY027525;BC009562;BC022801;BC032889;BC048092;BC070238;BC092434;BC125202;BC125203;CH471075;DA400049;DA560379;NM_001193478;NM_030911;NR_036439 AAH09562;AAH32889;AAH48092;AAH70238;AAH92434;AAI25203;AAK16745;BAG35689;BAG59840;CAB70808;EAX08815;EAX08816;EAX08817;EAX08818;EAX08819;NP_001180407;NP_112173;Q9BWV3 Hs.388220 1684142;1700298;1847083;1847222;2187022 D5S2649;RH103768;RH98518;STS-AA040034;WI-13561 MGC150615;MGC41774;MGC57136;NYD-SP15;RP11-103J18.2;bA103J18.1 OTTHUMP00000018405;cytidine and dCMP deaminase domain-containing protein 1;protein kinase NYD-SP15;testis development protein NYD-SP15 protein-coding ENSG00000102543 20299 16693 VALIDATED 1313717 CD97 CD97 molecule This gene encodes a member of the EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large extracellular subunit and seven-span transmembrane subunit, which associate at the cell surface as a receptor complex. The encoded protein may play a role in cell adhesion as well as leukocyte recruitment, activation and migration, and contains multiple extracellular EGF-like repeats which mediate binding to chondroitin sulfate and the cell surface complement regulatory protein CD55. Expression of this gene may play a role in the progression of several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found in a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011] 19 19 p13 14353213 14380535 + 14491956 14519537 + 1580863;2317573;6480464 12428789 8955192;11297558;17474147;7636245;19428565;18329191;18267122;17449467;16929497;16818763;16344560;16273233;15576472;15489334;15057824;14702039;14647991;12829604;12477932;12417446;12414513;11380941;11037979;10540231;9764855;9135025;9064337;8786105;8125298;16712791;19737555;20237496;15498814;20428763;19913121;20628086;20339853;20167235;21156175;22210915;21906983;21978933;21963094;22797060;22313360;22547928;22768192 976 K7EKV5;K7ELE5;K7EPE8;K7EPP8;P48960 AB065966;ABBA01029670;ABBA01029671;ABBA01029672;ABBA01029673;ABBA01029674;ABBA01029675;AC008569;AI890331;AK097264;AK225655;AK225677;AK292159;AK300343;AK304553;AK308368;AK314697;AMYH01009529;AMYH01009530;AU117846;AX775807;AX775809;AX775811;AX775813;AY545551;BC026690;BM545710;CB127827;CH471106;DC381605;DC414739;HI574004;HI574006;HI574008;NG_029253;NM_001025160;NM_001784;NM_078481;U76764;X84700;X94630 AAB36682;AAH26690;BAC06178;BAF84848;BAG37246;BAG53442;BAG62088;BAG65348;CAA59173;CAA64333;CAE11603;CAE11604;CAE11605;CAE11606;CBX47491;CBX47492;CBX47493;EAW84412;EAW84413;NP_001020331;NP_001775;NP_510966;P48960 Hs.466039 1661759;1728629;1769790;2106983;2165592;2175756 CD97_3201.2;G29823;G63606;RH12356;RH79172;STS-X84700 TM7LN1 CD97 antigen;leukocyte antigen CD97;seven transmembrane helix receptor;seven-span transmembrane protein;seven-transmembrane, heterodimeric receptor associated with inflammation APPROVED protein-coding ENSG00000123146 1711 03130 601211 REVIEWED 1604976 CDC14C cell division cycle 14C 7 7 7 p12.3 49065688 49068017 + 48934703 48937595 + 48964157 48967049 + 6480464 18547142;16201836;12477932;23400010 168448 A4D256 AACC02000076;ABBA01008187;AC006024;AMYH01017237;BC028690;BC068452;CH236955;DQ120635;NR_003595 A4D256;ABB92421;EAL23905;EAL23906 Hs.567757 CDC14B2;CDC14Bretro;MGC26484 APPROVED pseudo 22427 PROVISIONAL 1322476 CDC14B cell division cycle 14B The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. This protein is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, which suggests the role in cell cycle control. This protein has been shown to interact with and dephosphorylates tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splice of this gene results in 3 transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 9 9 q22.3 98302216 98421933 - 99262395 99382112 - 1580863;6480464;6907045 18662541;9367992;18547142;18458157;18418058;16344560;15911625;15899858;15362113;12853468;12697818;12477932;12134069;11901424;10644693;8125298;20479464;21301228;21379580;19686743;18029348;22784093 8555 H0Y577;H7C3U8;O60729;Q5JU07 ABBA01043578;ABBA01043579;ABBA01043580;ABBA01043581;ABBA01043582;ABBA01043583;AF023158;AF064104;AF064105;AK126388;AK225361;AL133477;AL353578;AMYH01021545;AMYH01021546;AY675321;BC050013;CH471174;DA943563;EF611343;NM_001077181;NM_003671;NM_033331 AAB88293;AAC16661;AAC16662;AAI56667;AAT70726;ABR12627;BAG54321;EAW92658;EAW92659;NP_001070649;NP_003662;NP_201588;O60729 Hs.40582 1659741;1700328;1715673;2117964;2121887;2133075;2153782;2173974;5015861;5015881;5020936;5037552;7185938 D10S16;D8S2279;D9S1011E;D9S1145;GDB:335751;RH103784;RH119282;RH65524;SGC35176;SGC38141;STS-H84156;STS-N29550 CDC14B3;Cdc14B1;Cdc14B2;hCDC14B CDC14 cell division cycle 14 homolog B;OTTHUMP00000021729;OTTHUMP00000021730;OTTHUMP00000021732;OTTHUMP00000215877;OTTHUMP00000215878;OTTHUMP00000215879;dual specificity protein phosphatase CDC14B APPROVED protein-coding ENSG00000081377 1719 04615 603505 REVIEWED 1315579 CDAN1 codanin 1 This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009] 15 15 q15.2 40803052 40816709 - 43015760 43029417 - 1600473;6480464;7240710 12434312 17353931;18575862;18464913;18081704;16767397;15489334;12975309;12477932;8634422;16169070;19336738;20301759;22863883;22407294;21364188 146059 H3BM60;H3BPZ6;Q8IWY9 ABBA01038365;AC090510;AF525398;AL133019;AMYH01006585;BC001092;BC008333;BC008334;BC052568;BC066640;BC113821;CH471125;NG_012491;NM_138477 AAH01092;AAH08333;AAH08334;AAH52568;AAH66640;AAO14994;EAW92576;EAW92577;EAW92578;EAW92579;NP_612486;Q8IWY9 Hs.599232 1650657;1665669;2132532;2191345 D15S637E;D15S896;MARC_17743-17744:1031760523:1;SHGC-24154 CDA1;CDAI;DLT;PRO1295 codanin-1;congenital dyserythropoietic anemia, type I;discs lost homolog APPROVED protein-coding ENSG00000140326 1713 08470 224120;607465 REVIEWED 1605274 CDC20P1 cell division cycle 20 pseudogene 1 9 9 9 q21.33 60198117 60199750 + 88816225 88818045 + 89626489 89628125 + 9682218 157956 ABBA01016315;AL513318;AMYH01021477;NG_001560 2120668;2151793 RH67938;STS-U05340 CDC20P APPROVED pseudo 29487 INFERRED 1312211 CDC14A cell division cycle 14A The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, suggesting a role in cell cycle control. This protein has been shown to interact with, and dephosphorylate tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splicing of this gene results in several transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 1 1 p21 100590611 100758421 + 100818023 100985833 + 6480464;6907045 16221885;9367992;19152073;18235225;17623655;17371873;17172867;16784539;16760464;16344560;15911625;15489334;15263015;12477932;12134069;11901424;11598127;10644693;10409437;14968112;20379614;20477815;20508983;20956543;16712791;18029348;8889548;20479464;21233601;23051732;22020438;22784093 8556 C9JSP6;F5H7B3;Q59EF4;Q8IXX0 AA929031;AB209857;ABBA01045439;AC104457;AF000367;AF064102;AF064103;AF122013;AK302310;AK310292;AK310657;AL589990;AMYH01000825;AMYH01000826;AY623111;BC038979;BC071578;BC093916;BC093918;BU609013;CB156695;CH471097;DA461435;DA885382;DQ530256;NM_003672;NM_033312;NM_033313 AAB88277;AAC16659;AAC16660;AAD49217;AAH38979;AAH93916;AAH93918;AAT38107;ABF74568;BAD93094;BAG63648;EAW72956;EAW72957;EAW72958;EAW72959;EAW72960;NP_003663;NP_201569;NP_201570;Q9UNH5 Hs.127411 1665789;1687365;1715113;1756689;1761135;1795528;2117252;2149486;2167971 A008M41;AFMa109wh5;AL009775;CDC14A_422;RH119509;RH92716;SHGC-143777;SHGC-145140;SHGC-75230 cdc14;hCDC14 CDC10 (cell division cycle 10, S. cerevisiae, homolog);CDC14 cell division cycle 14 homolog A;OTTHUMP00000012653;OTTHUMP00000012654;OTTHUMP00000012655;OTTHUMP00000012656;dual specificity protein phosphatase CDC14A APPROVED protein-coding ENSG00000079335 1718 04614 603504 REVIEWED 1602643 CDC20B cell division cycle 20B 5 5 5 q11.2 51361686 51421844 - 54444580 54504760 - 54408799 54469005 - 6480464 16344560;14702039;12477932 166979 Q8IUZ8 AB077043;AB077044;AB081750;AB086378;ABBA01015736;ABBA01015737;AC091977;AI471861;AK095246;AMYH01015088;BC037547;BC136572;CH471123;DA434860;DB237622;NM_001145734;NM_001170402;NM_152623 AAH37547;AAI36573;BAB97393;BAC04508;BAC67701;BAC67702;BAC67705;EAW54901;EAW54902;EAW54903;EAW54904;EAW54905;EAW54906;EAW54907;NP_001139206;NP_001163873;NP_689836;Q86Y33 Hs.669184 1731369;2125206;2161488;2184026;5019395;5022651;7184802 D11S2921;D18S21;PMC152543P1;SGC34842;STS-N22158;STS-N33071 FLJ37927;G6VTS76519 CDC20 cell division cycle 20 homolog B;CDC20-like protein;OTTHUMP00000161831;OTTHUMP00000222381;OTTHUMP00000222382;OTTHUMP00000222383;cell division cycle 20 homolog B;cell division cycle protein 20 homolog B APPROVED protein-coding ENSG00000164287 24222 13428 VALIDATED 733862 CDC123 cell division cycle 123 10 10 p13 12277971 12332593 + 12237961 12292589 + 632556;6480464 8601400 19020323;15319434;10942595;19502414;19247373;19139842;19020324;18714373;18591388;18567820;18372903;15489334;15342556;15164054;14702039;12477932;9683532;8125298;16385451;19602701;19670153;19720844;19741467;19794065;19833888;19933996;20075150;20161779;20379614;20490451;20712903;20816152;20879858;20889853;20927120;20571754;20862305;22923468;18781797;21987572;21139048;21890473;21906983;21909839;21946350;15231748;21963094;22961080;23000965;23284291;22939629;22053931 8872 H7BZW7;O75794 ABBA01034664;ABBA01034665;ABBA01034666;ABBA01034667;AK023925;AK225634;AK289362;AK308790;AL512770;AMYH01002030;AMYH01002031;AMYH01002032;AW006077;BC001600;BC009598;BP367374;CH471072;CR456966;D14878;NM_006023;U27112 AAC34738;AAH01600;AAH09598;BAA03593;BAF82051;CAG33247;EAW86317;EAW86318;NP_006014;O75794 Hs.412842;Hs.703246 1850631;5022578;5037552 D1S1423;D8S2279;WI-11468 C10orf7;D123;FLJ13863 HT-1080;OTTHUMP00000019106;OTTHUMP00000019108;OTTHUMP00000019110;PZ32;cell division cycle 123 homolog;cell division cycle protein 123 homolog APPROVED protein-coding ENSG00000151465 16827 12586 VALIDATED 1312892 CDC16 cell division cycle 16 This gene encodes a component protein of the APC complex, which is composed of eight proteins and functions as a protein ubiquitin ligase. The APC complex is a cyclin degradation system that governs exit from mitosis. Each component protein of the APC complex is highly conserved among eukaryotic organisms. This protein and two other APC complex proteins, CDC23 and CDC27, contain a tetratricopeptide repeat (TPR), a protein domain that may be involved in protein-protein interaction. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 13 13 q34 114018464 114056252 + 115000362 115038150 + 6480464;6907045 12956947;11285280;7736578;14593737;15029244;10793135;11256614;11535616;11742988;12070128;10548110;11340163;16964243;16565220;15489334;14702039;14657031;12629511;12477932;12196507;12029633;11691834;11179667;10922056;10500174;10477750;10318877;9628895;9469815;9405394;18997788;10498862;21043528;11076961;17827148;16319895;11739784;12686615;16364912;18485873;20056645;20508983;22990118;23007861;23160376;22939629;21926987;20080579;9356466;20360068;22193957;21139048;21549307;21890473;21906983;17187060;19535905;19826003;20733055;21335556;19531213;16648845;16921029 8881 Q13042;Q5T8C6;Q7Z651 AB209850;ABBA01006266;ABBA01006267;AF164598;AK095082;AK296424;AK315302;AL160396;AL540490;AMYH01005417;AY599074;BC010875;BC017244;BC050575;CH471085;NM_001078645;NM_003903;U18291 AAC50200;AAD45156;AAH10875;AAH17244;AAS94323;BAD93087;BAG37707;BAG59086;EAX09237;EAX09238;EAX09239;EAX09240;EAX09241;EAX09242;EAX09243;EAX09244;EAX09245;NP_001072113;NP_003894;Q13042 Hs.374127 1340507;1662318;1672665;1732023;1738405;1742989;2116870;2131245;2134882;2171001;2171003;2182691;5017769;5019789 A001Y17;A009U45;CDC16;D13S1160;D13S1825;D13S327;D13S667E;G19778;G32861;G35279;GDB:229301;RH1616;RH47113;SHGC-10931 ANAPC6;APC6;CUT9 CDC16Hs;OTTHUMP00000018782;OTTHUMP00000018786;OTTHUMP00000018787;OTTHUMP00000018788;OTTHUMP00000178881;anaphase-promoting complex subunit 6;anaphase-promoting complex, subunit 6;cdc16 cell division cycle 16 homolog (s. cerevisiae);cell division cycle 16 homolog;cell division cycle protein 16 homolog;cyclosome subunit 6 APPROVED protein-coding ENSG00000130177 1720 04587 603461 REVIEWED 731833 CDC20 cell division cycle 20 CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the cell cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq, Jul 2008] 1 1 p34.1 43597213 43601461 + 43824626 43828874 + 632471;1580863;6480464;6907045 7513050 11030144;14743218;17353931;17719540;18022367;11285280;9682218;14593737;12791267;11535616;11742988;12070128;15469984;19197151;19154722;19117984;19098431;18997788;18953566;18591651;18471975;17908926;17873905;17598981;17388661;16795040;16777988;16710414;16572426;16497171;15761153;15701830;15623561;15525512;15489334;15388328;15280373;14657031;12887895;12477932;12198152;12196507;11988738;11976684;11907259;11891222;11804586;11553328;11389834;11274370;10700282;10679238;10377410;10366450;9811605;9736712;9734353;9637688;9628895;9353311;8125298;16751065;14607335;14561775;11707408;11438673;12956947;11459826;15916961;22692537;23091007;22318606;22322943;22566641;15694304;12456649;19282672;10318877;17443180;17443186;17679094;18162579;18592005;19426592;19738611;19826003;20053638;20054826;20624902;20526282;10799291;11562349;11702782;11751633;15923616;18354482;18794143;21145461;21596315;22000412;22280307;20733051;16287863;16319895;16479161;19336002;20739533;20729194;11459825;20200358;20948288;22990118;23007861;23160376;23239745;23318449;21454660;19483727;20512932;21439932;18059335;20064487;21725316;21874044;19820702;20360068;20937767;21926987;19822757;22086178;14701726;20383333;20663873;21139048;21890473;21906983;22193957;22100920;15014502;16455800;17360335;17403670;18372912;19477924;20081372;20733055;21335556;21336306;21743465;21903591;22475564;21937719;17609108;21525009;23288039;21832049;22505724;22426463 991 B4E1H5;Q12834 ABBA01050956;AF099644;AK225504;AK302539;AK303844;AK312780;AL139289;AMYH01000557;BC000624;BC001088;BC006272;BC009425;BC009426;BC010044;BC012803;BC012827;BC013303;BC015998;BC024257;BC031294;BC110321;BT007388;CH471059;DQ473545;NM_001255;U05340 AAA19017;AAD16405;AAH00624;AAH01088;AAH06272;AAH09425;AAH09426;AAH10044;AAH12803;AAH12827;AAH13303;AAH15998;AAH24257;AAH31294;AAI10322;AAP36052;ABE96834;ABM83216;ABM86415;ACE86546;ACE87227;BAG35643;BAG63811;BAG64787;EAX07101;EAX07102;NP_001246;Q12834 Hs.524947 1653959;1683477;2120668;2141046;2151793 A004O43;RH12828;RH67938;RH98782;STS-U05340 CDC20A;MGC102824;bA276H19.3;p55CDC CDC20 cell division cycle 20 homolog;OTTHUMP00000008571;OTTHUMP00000008572;cell cycle protein p55cdc;cell division cycle 20 homolog;cell division cycle protein 20 homolog APPROVED protein-coding ENSG00000117399 1723 04686 603618 REVIEWED 1353454 CDC26P1 cell division cycle 26 pseudogene 1 7 7 7 q32.1 123846436 123847139 - 128836927 128837640 - 129049694 129050397 - 12690205 729948 AACC02000035;ABBA01057635;AC009244;AMYH01017929;CH236950;NG_011774;NG_029180 1676748;1680393;1739195 D9S1647;RH27244;RH66343 CDC26P APPROVED pseudo 22770 INFERRED 3539738 CDC27P1 cell division cycle 27 pseudogene 1 2 2 2 q21.2 126738109 126740015 + 132735207 132737140 + 133018761 133020667 + 647696 ABBA01028221;AC097532;AMYH01011109;NG_021586 1731643 D14S145 APPROVED pseudo 38091 INFERRED 3077626 CDC27P2 cell division cycle 27 pseudogene 2 Y Y Y p11.2 3365820 3367729 - 10635394 10639907 - 10027998 10029907 - 100130277 ABBA01027395;AC010970;NG_021910 APPROVED pseudo 38092 INFERRED 1312484 CDC23 cell division cycle 23 The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae Cdc23, a protein essential for cell cycle progression through the G2/M transition. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eukaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. [provided by RefSeq, Jul 2008] 5 5 q31 137551236 137576931 - 137523337 137549032 - 1580863;6480464;6907045 12629511;11285280;12188893;14657031;14593737;15029244;10793135;9790767;11535616;11742988;12070128;10548110;11340163;17081983;16964243;16565220;16189514;15489334;15345747;15302935;12477932;11256614;10922056;10500174;10318877;9469815;8125298;18162579;18997788;12956947;11076961;16648845;17609108;21043528;22280307;21336306;16364912;18485873;22990118;23022380;23007861;23160376;20080579;17942546;19322201;22792066;20360068;22193957;19531213;21139048;21549307;21906983;21990323;22939629;16921029;22505724 8697 D6RBY8;D6RCF8;H0Y936;Q9UJX2 AB011472;ABBA01068689;ABBA01068690;ABBA01068691;ABBA01068692;AC106752;AF053977;AF191341;AK223250;AK291610;AK304635;AMYH01015641;AY603103;BC005258;BC010944;BC017713;BT009810;CH471062;NM_004661 AAC70920;AAF05755;AAH05258;AAH10944;AAH17713;AAP88812;AAS99353;ABM82612;ABM85796;BAA75628;BAD96970;BAF84299;BAG65414;EAW62154;EAW62155;EAW62156;NP_004652;Q9UJX2 Hs.73625 1669521;1674948;1678153;1735548;2184146;5017392 D5S1673E;RH44568;RH48461;RH48651;RH91186;WI-14323 ANAPC8;APC8;CUT23 OTTHUMP00000159484;anaphase promoting complex subunit 8;anaphase-promoting complex subunit 8;cdc23 (cell division cycle 23, yeast, homolog);cell division cycle 23 homolog;cell division cycle protein 23 homolog;cyclosome subunit 8 APPROVED protein-coding ENSG00000094880 1724 07221 603462 REVIEWED 731492 CDC25A cell division cycle 25A CDC25A is a member of the CDC25 family of phosphatases. CDC25A is required for progression from G1 to the S phase of the cell cycle. It activates the cyclin-dependent kinase CDC2 by removing two phosphate groups. CDC25A is specifically degraded in response to DNA damage, which prevents cells with chromosomal abnormalities from progressing through cell division. CDC25A is an oncogene, although its exact role in oncogenesis has not been demonstrated. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 p21 48173672 48204805 - 48198668 48229801 - 1580863;2743964;2764000;2729590;2734052;2771824;2296067;2754551;2715645;6480464;6907045 18974148;17283130;20500813;19555767;16951165;18299147;17638870;17145867 22160829;17292828;12791985;11139144;18029348;1828290;10454565;12399544;19367581;19305144;19062161;19060337;19013180;18980975;18927589;18794133;18676680;18566993;18480045;18316586;18204780;18167338;18073536;17912454;17671423;17545210;17172867;17018577;17001315;16912045;16720623;16644029;16598773;16189514;15798217;15572030;15489334;14767575;14727060;14681206;14673957;14657354;14603323;14559997;14517313;12963847;12801928;12759351;12738732;12676925;12676583;12477932;12411508;12388094;12234927;12110582;11912208;11805096;11752153;11585757;11584018;11416155;11106571;10926775;10827953;10740819;10454584;10373531;10373478;9989807;9858615;9779991;9707427;9604936;9466490;9230211;8668211;8617791;8276402;7744247;7667636;7644510;1836978;18495657;9278511;9891079;15311285;10766737;21575861;20217459;20956543;20462953;20639859;20614206;11298456;15161933;19170196;19289404;19417033;19615732;19621387;19625176;19692168;19738433;19738611;19833767;20090422;20228808;20348946;20368335;20379614;20453000;20606298;19966869;21670150;23240008;21344162;16191191;22467868;21900206;21906983;21963094;21988832;22843495;22065597;22417828;14752276;19477924;16338364;22705122;21832049;22435685;17676996;18160429;22017875;22505724 993 C9JFR5;C9JH94;P30304 ABBA01024656;AC104190;AC124916;AF112978;AF277722;AF527417;AI917350;AJ242714;AK290554;AMYH01013148;AY137580;BC007401;BC018642;BQ065803;BX392016;CH471055;EU812118;M81933;NM_001789;NM_201567 AAA58415;AAG41884;AAH07401;AAH18642;AAM77917;AAN11305;ABM81679;ABM83845;ABM87167;ACI43572;BAF83243;EAW64849;EAW64850;EAW64851;EAW64852;NP_001780;NP_963861;P30304 Hs.437705 1688062;1743105;1769417;1797372;2120080;2133046 CDC25A_518.2;D3S4167;D3S4246;GDB:252110;RH11459;RH80886 CDC25A2 CDC25A2-CAG isoform;M-phase inducer phosphatase 1;OTTHUMP00000164816;OTTHUMP00000164817;dual specificity phosphatase CDC25A APPROVED protein-coding ENSG00000164045 1725 00305 116947 REVIEWED 1604653 CDC25B cell division cycle 25B CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cyclin dependent kinase CDC2 by removing two phosphate groups and it is required for entry into mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protein is nuclear in the M and G1 phases of the cell cycle and moves to the cytoplasm during S and G2. CDC25B has oncogenic properties, although its role in tumor formation has not been determined. Multiple transcript variants for this gene exist. [provided by RefSeq, Jul 2008] 20 20 p13 3724401 3734762 + 3776401 3786762 + 2739695;4105451;4105454;4105449;2729590;6480464;6907045 19383904;14559803;12569365;15550849;20500813 17353931;9188863;1836978;8276402;15456846;1828290;19308021;18676680;18635965;18559558;18235220;18089784;17651784;17599046;17591782;10713667;10543950;10444066;10403798;9733650;9585407;9278511;9268380;9141461;8468065;8440392;7667636;7644510;1662986;11333986;17336969;17106257;17018577;17003105;16861915;16082213;15908796;15629715;15489334;15311285;15173315;15150265;15128871;15003534;14767575;14702039;12764136;12681290;12527891;12477932;12400006;12107172;11780052;11689696;10822367;10740819;17548358;16191191;17292828;17554300;19170196;19615732;19625176;19638579;19692168;19738611;19801682;20025242;20128929;20176018;20508983;20956543;21091437;20801879;21363925;15024056;21242964;21640712;21558810;21807946;21709669;17332740;20360068;21890473;21906983;21963094;21987572;21254220;22132193;15845771;18060429;18160429;22017875;22631674;22721997;22797925 994 B3KS38;B4DIG0;G8JLH2;Q6MZW8;Q6RSS1 ABBA01053832;AF036233;AK092713;AK124284;AK295573;AK299028;AK299192;AL109804;AMYH01011679;AY494082;BC006395;BC009953;BC051711;BX640836;BX647988;CH471133;FR695900;FR695901;M81934;NG_029040;NM_004358;NM_021872;NM_021873;S78187;X96436;Z68092 AAA58416;AAB21139;AAB94622;AAB94623;AAB94624;AAB94625;AAH06395;AAH09953;AAH51711;AAR26469;BAG52600;BAG58472;BAG61105;BAG61235;CAA65303;CAA92108;CAE45909;CBX26628;CBX26629;EAX10491;EAX10493;EAX10494;EAX10496;EAX10498;EAX10499;NP_004349;NP_068658;NP_068659;P30305 Hs.153752 1668754;2108719;2128827 CDC25B_1671.2;D20S1012;SHGC-30160 M-phase inducer phosphatase 2;OTTHUMP00000030137;OTTHUMP00000030138;OTTHUMP00000030139;cell division cycle 25B;dual specificity phosphatase Cdc25B APPROVED protein-coding ENSG00000101224 1726 00307 116949 REVIEWED 1322746 CDC26 cell division cycle 26 The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component of cell cycle anaphase-promoting complex (APC). APC is composed of a group of highly conserved proteins and functions as a cell cycle-regulated ubiquitin-protein ligase. APC thus is responsible for the cell cycle regulated proteolysis of various proteins. [provided by RefSeq, Jul 2008] 9 9 9 q32 86676902 86685483 - 115069109 115077690 - 116029288 116037869 - 1580863;6480464;6907045 11285280;14593737;15029244;10793135;10922056;11535616;11742988;12070128;10548110;11340163;15489334;15164053;12477932;8895471;12956947;21043528;17207965;16364912;18485873;22939629;14657031;23007861;20080579;20360068;22318606 246184 Q8NHZ8 ABBA01042690;AF503918;AL449305;AMYH01021669;BC042534;BC066300;BF244254;BQ446788;CA446805;CD685602;CH471090;NM_139286 AAH42534;AAH66300;AAM34207;ADQ32968;EAW87360;EAW87361;NP_644815;Q8NHZ8 Hs.727648 1676748;1680393;1682307;1739195 D9S1647;RH27244;RH46393;RH66343 ANAPC12;APC12;C9orf17 CDC26 subunit of anaphase promoting complex;OTTHUMP00000021952;anaphase promoting complex subunit 12;anaphase-promoting complex subunit 12;anaphase-promoting complex subunit CDC26;cell division cycle 26;cell division cycle 26 homolog;cell division cycle protein 26 homolog APPROVED protein-coding ENSG00000176386 17839 13012 614533 REVIEWED 2303454 CDC37P2 cell division cycle 37 pseudogene 2 16 16 16 p11.2 28093328 28094572 + 28332596 28333840 + 28425095 28426339 + 11413142 647015 ABBA01015958;AC138894;AMYH01007424;NG_009466 1738823 D16S2882 APPROVED pseudo 35453 INFERRED 1323559 CDC25C cell division cycle 25C This gene is highly conserved during evolution and it plays a key role in the regulation of cell division. The encoded protein is a tyrosine phosphatase and belongs to the Cdc25 phosphatase family. It directs dephosphorylation of cyclin B-bound CDC2 and triggers entry into mitosis. It is also thought to suppress p53-induced growth arrest. Multiple alternatively spliced transcript variants of this gene have been described, however, the full-length nature of many of them is not known. [provided by RefSeq, Jul 2008] 5 5 q31 137648858 137695415 - 137620959 137667516 - 1580863;2774210;4105450;4105452;4105448;2729590;4105453;2756028;4105455;2776427;6480464;6907045 16140946;15289842;12931023;15567944;20500813;12896904;17460776;12124347;16000564 22021033;16205633;22394631;16191191;8402895;8119945;7494303;7479023;7474100;1836978;1703321;1386342;16751065;15638722;15265780;15142382;11969417;15284440;11604498;15735702;15766665;8432534;10037602;16330544;17110335;17349584;11078813;12791985;11139144;1828290;2195549;10330186;11063929;9278512;11897663;12766774;19074854;18838868;18676680;18604163;18551998;18464119;18384749;18272575;18272572;18161793;18056802;17611691;17591782;17548228;17419986;17382881;17097061;16964243;16807237;16649252;16648550;16582626;16582488;16356754;16344560;15887239;15791647;15708996;15574328;15489334;15150265;14972559;14968113;14702039;12941695;12937170;12857880;12595692;12477932;12386164;12175337;12099692;11933156;11925443;11896603;11842186;11836499;11691994;11551930;11531413;11389730;11337467;11333986;11304565;11202906;10864927;10853038;10744722;10740819;10681541;10557092;9923681;9733650;9585407;9520381;9499405;9482729;9278511;9268380;9141461;8440392;20514472;20668692;14532005;15161933;16753148;19074885;19170196;19473963;19625176;19626602;19692168;20025242;20360007;20453000;20508983;9154803;9543386;21189416;15705874;16705183;17035231;22843362;11438675;21379580;20228808;11559705;12024051;20360068;21139048;21750987;21987572;22360685;8475101;16968750;19503101;22842784;11016625;12402044;19330022;11390642;12660173;12909615;15319445;18160429;18371353;18445273;19275586;19275588;19458171;20012529;21318276 995 D6RD20;D6RJC2;H0Y999;P30307 ABBA01068681;ABBA01068682;ABBA01068683;ABBA01068684;ABBA01068685;ABBA01068686;ABBA01068687;AC104116;AF086323;AF277723;AF277724;AF277725;AF277726;AF312681;AJ304504;AK097710;AK301828;AMYH01015641;AMYH01015642;AU098899;AY497474;BC019089;CH471062;DB040755;M34065;NM_001790;NM_022809;Z29077 AAA35666;AAG41885;AAG41886;AAG41887;AAG41888;AAH19089;AAL26835;AAR32098;ACE87029;ACE87715;BAG63273;CAC19192;EAW62145;EAW62146;EAW62147;EAW62148;EAW62149;EAW62150;NP_001781;NP_073720;P30307 Hs.656 1648787;2151177;2217134 CDC25C_3232;RH69126;STS-T96364 CDC25;PPP1R60 M-phase inducer phosphatase 3;OTTHUMP00000159489;OTTHUMP00000159490;OTTHUMP00000224012;OTTHUMP00000224013;OTTHUMP00000224016;dual specificity phosphatase CDC25C;mitosis inducer CDC25;phosphotyrosine phosphatase;protein phosphatase 1, regulatory subunit 60 APPROVED protein-coding ENSG00000158402 1727 01146 157680 REVIEWED 2303436 CDC37P1 cell division cycle 37 pseudogene 1 16 16 16 p11.2 28093257 28094690 + 28618998 28620433 - 28711497 28712932 - 15616553;12477932;10493829 390688 AC002544;AC145285;NG_009463 AAC27427 1738823 D16S2882 A-761H5.2 APPROVED pseudo 34406 INFERRED 1319564 CDC37L1 cell division cycle 37-like 1 CDC37L1 is a cytoplasmic phosphoprotein that exists in complex with HSP90 (HSPCA; MIM 140571) as well as several other proteins involved in HSP90-mediated protein folding (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM, Mar 2008] 9 9 9 p24.1 4602076 4629102 + 4669566 4696594 + 4679566 4706594 + 1580863;6480464 18052042;15850399;19322201;12477932;11413142;8125298;17207965;15840729;22863883 55664 B1AL69;Q7L3B6 ABBA01065420;AK000497;AK000646;AK225510;AL136231;AMYH01019201;BC014133;CH471071;NM_017913 AAH14133;ADQ31696;BAA91206;BAA91304;EAW58782;NP_060383;Q7L3B6 Hs.666439 1644190;1857247;2114048;2116202;2189483 AB050415;MARC_7349-7350:992008364:1;RH15867;RH66324;WI-19289 CDC37B;FLJ20639;HARC;RP11-6J24.5 CDC37 cell division cycle 37 homolog-like 1;Hsp90-associating relative of Cdc37;OTTHUMP00000021001;OTTHUMP00000021002;cell division cycle 37 homolog (S. cerevisiae)-like 1;cell division cycle 37 homolog-like 1;hsp90 co-chaperone Cdc37-like 1 APPROVED protein-coding 17179 07120 610346 VALIDATED 6481123 CDC42-IT1 CDC42 intronic transcript 1 (non-protein coding) 100874292 AL031281 miscrna 41317 1312639 CDC27 cell division cycle 27 The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eucaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and thus may be involved in controlling the timing of mitosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q21.32 42552625 42621664 - 45195310 45266665 - 1580863;6480464;6907045 16648845;17719540;11285280;7736578;14593737;15029244;10793135;11256614;11535616;11742988;12070128;10548110;11340163;17827148;16565220;16344560;15489334;15252450;14657031;15342556;12853486;12797865;12477932;12429948;12196507;11691834;11524682;10939594;10922056;10500174;10477750;10318877;10037602;9736712;9618490;9499405;9469815;9405394;8619132;8234252;7756179;12956947;14561775;15280373;17360335;17403670;17942546;18372912;18573889;19826003;20081372;20733055;21335556;21743465;21986944;22792066;10498862;15923616;18471975;18794143;21043528;21454540;21596315;22280307;9734353;23078409;15082755;15916961;11076961;12686615;16364912;17187060;17474147;17679094;18485873;18662541;18997788;19615732;20508983;9628895;9637688;9811605;18029348;16479161;22939629;21336306;12097298;16510875;21209074;23007861;23160376;23239745;23287467;23383273;19483727;22045814;22990118;23022380;18059335;20080579;21454660;9356466;21926987;19822757;20360068;20663873;20729194;20733051;20937767;21139048;21549307;21890473;21906983;22193957;19531213;21937719;22318606;22139841;11707408;17609108;19098431;20395298;21525009;22100920;16921029;23029392 996 B4DL80;E9PRZ6;F6QPS0;G5EA36;I3L1K3;I3L225;I3L2Z8;I3L328;I3L394;I3L3G1;I3L3H6;I3L3Y5;K7EMA6;P30260 ABBA01041118;AC002558;AK296881;AK299342;AMYH01008446;AU135593;AY518321;BC011656;BI548077;BP234964;CH471231;DQ786193;NM_001114091;NM_001256;S78234;U00001 AAA60471;AAB34378;AAH11656;AAR89911;ABM83706;ABM87026;BAG59442;BAG61343;EAW57686;EAW57687;EAW57688;EAW57689;NP_001107563;NP_001247;P30260 Hs.463295 1654709;1698594;1731643;1745951;1777373;1797374;1850225;1854755;2118278;2130713;2164144;2167197 A007J33;AI452358;CDC27_1878;D14S145;L18241;RH102849;RH46196;RH65445;STS-H82965;STS-S78234;T03706;WI-13636 ANAPC3;APC3;CDC27Hs;D0S1430E;D17S978E;HNUC;NUC2 CDC27 homolog;H-NUC;OTTHUMP00000232872;OTTHUMP00000232873;OTTHUMP00000232875;OTTHUMP00000232877;anaphase promoting complex subunit 3;anaphase-promoting complex subunit 3;anaphase-promoting complex, protein 3;cell division cycle 27;cell division cycle 27 homolog;cell division cycle protein 27 homolog;nuc2 homolog APPROVED protein-coding ENSG00000004897 1728 00304 116946 REVIEWED 1350948 CDC42BPG CDC42 binding protein kinase gamma (DMPK-like) 11 11 11 q13.1 61917813 61938195 - 64348237 64368617 - 64591661 64612041 - 6480464 15194684;9341881;9253601;18029348;21903422;21906983;21768215 55561 Q6DT37 ABBA01024141;AMYH01003714;AP001187;AY648038;BI793270;CH471076;NM_017525;Y12337 AAT67172;CAA73006;EAW74316;NP_059995;Q6DT37 Hs.293590 1803104;1803178;1805088;1805918;1806048;1806498;1806500;1806854;1807334;1808486;1812706;1813778;1816606;1817832;1822146;1822212;1823488;1831144;1833726;1834960;1835344;1839058;1840134;1842956;1971422;1971424;1971426;1971428;1971430;1971432;1971434;1971436;1971438;1971440;1971442;1971444;1971446;1971448;1971450;1971452;1971454;1971456;1971458;1971460;1971462;1971464;1971466;1971468;1971470;1971472;1971474;1971476;1971478;1971480;1971482;1971484;1971486;1971488;1971490;1971492;1971494;1971496;1971498;1971500;1971502;1971504;1971506;1971508;1971510;1971512;1971514;1971516;1971518;1971520;1971522;1971524;1971526;1971528;1971530;1971532;1971534;1971536;1971538;1971540;1971542;1971544;1971546;1971548;1971550;1971552;1971554;1971556;1971558;1971560;1971562;1971564;1971566;1971568;1971570;1971572;1971574;1971576;1971578;1971580;1971582;1971584;1971586;1971588;1971590;1971592;1971594;1971596;1971598;1971600;1971602;1971604;1971606;1971608;1971610;1971612;1971614;2214964;2214966;2214968;2214970;2214972;2214974;2214976;2214978;2214980;2214982;2214984;2214986;2214988;2214990 ECD02443;ECD02480;ECD03486;ECD03912;ECD03977;ECD04206;ECD04207;ECD04392;ECD04638;ECD05225;ECD07364;ECD07912;ECD09345;ECD09970;ECD12159;ECD12192;ECD12835;ECD16708;ECD18008;ECD18631;ECD18827;ECD20708;ECD21251;ECD22686;REN56595;REN56596;REN56597;REN56598;REN56599;REN56600;REN56601;REN56602;REN56603;REN56604;REN56605;REN56606;REN56607;REN56608;REN56609;REN56610;REN56611;REN56612;REN56613;REN56614;REN56615;REN56616;REN56617;REN56618;REN56619;REN56620;REN56621;REN56622;REN56623;REN56624;REN56625;REN56626;REN56627;REN56628;REN56629;REN56630;REN56631;REN56632;REN56633;REN56634;REN56635;REN56636;REN56637;REN56638;REN56639;REN56640;REN56641;REN56642;REN56643;REN56644;REN56645;REN56646;REN56647;REN56648;REN56649;REN56650;REN56651;REN56652;REN56653;REN56654;REN56655;REN56656;REN56657;REN56658;REN56659;REN56660;REN56661;REN56662;REN56663;REN56664;REN56665;REN56666;REN56667;REN56668;REN56669;REN56670;REN56671;REN56672;REN56673;REN56674;REN56675;REN56676;REN56677;REN56678;REN56679;REN56680;REN56681;REN56682;REN56683;REN56684;REN56685;REN56686;REN56687;REN56688;REN56689;REN56690;REN56691;stSG635716;stSG635717;stSG635719;stSG635720;stSG635721;stSG635722;stSG635723;stSG635724;stSG635725;stSG635726;stSG635728;stSG635729;stSG635730;stSG635731 DMPK2;HSMDPKIN;KAPPA-200;MRCKG;MRCKgamma CDC42-binding protein kinase gamma;DMPK-like gamma;MRCK gamma;OTTHUMP00000042866;myotonic dystrophy kinase-related CDC42-binding kinase gamma;myotonic dystrophy protein kinase like protein;myotonic dystrophy protein kinase-like alpha;myotonic dystrophy protein kinase-like gamma;serine/threonine-protein kinase MRCK gamma protein-coding ENSG00000171219 29829 13013 613991 VALIDATED 1313428 CDC34 cell division cycle 34 The protein encoded by this gene is a member of the ubiquitin-conjugating enzyme family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment of ubiquitin to other proteins. This protein is a part of the large multiprotein complex, which is required for ubiquitin-mediated degradation of cell cycle G1 regulators, and for the initiation of DNA replication. [provided by RefSeq, Jul 2008] 19 19 p13.3 482733 493087 + 531733 542087 + 1580863;6480464;6907045 12565873;14690596;15611064;22069333;21296085;17274640;8248134;19240061;19126550;18950845;18458088;17698585;17597759;17461777;16210246;16123592;15652359;15489334;14645576;12477932;12037680;11689688;11675391;11546811;11054541;10918611;10871850;10769200;10713156;10385629;10373550;10329681;9710583;9430629;9367342;8939846;19123975;10531035;10748083;11032804;18029348;19549727;19615732;19875449;19945379;20347421;20353940;20378537;20379614;12060736;14671314;23250430;23261596;23297342;17785450;19256485;22496338;22863883;19471022;22145905;22210895;20639865;20663873;21130766;21139048;21890473;21906983;21963094;22286100;22087249;22318606;14980219;18851830;19112177;22748924;8576261;18239684;23000965;23465077;23478441;23589337;23604317;23624912;11245432;11463388;11566883;12435635;12813041;12840033;14532120;14578910;15327770;16322693;16338364;16472766;16774918;16861890;16874460;17965458;19073596;19084516;19581926;19933270;20081843;20160477;20596027;20638939;20864041;21098119;21220517;21841822;22017877;22053931;22113614;22190037;22334663;22669845;22711876;22959436 997 P49427 ABBA01002568;AC011531;AC011556;AK291554;AMYH01009189;AY650399;BC002332;BC009850;BC018143;BC023979;BT006659;CH471242;L22005;NM_004359 AAC37534;AAH09850;AAH18143;AAH23979;AAP35305;AAT46688;ABM81664;ABM84836;ABM85578;BAF84243;EAW61190;EAW61191;NP_004350;P49427 Hs.514997 1690860;1730295;7184712 D19S236E;RH79792 E2-CDC34;UBC3;UBCH3;UBE2R1 cell division cycle 34;cell division cycle 34 homolog;ubiquitin carrier protein;ubiquitin-conjugating enzyme E2 R1;ubiquitin-conjugating enzyme E2-32 KDA complementing;ubiquitin-conjugating enzyme E2-CDC34;ubiquitin-protein ligase R1 APPROVED protein-coding ENSG00000099804 1734 00306 116948 REVIEWED 732258 CDC37 cell division cycle 37 The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein of Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown to form complex with Hsp90 and a variety of protein kinases including CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha kinases. It is thought to play a critical role in directing Hsp90 to its target kinases. [provided by RefSeq, Jul 2008] 19 19 p13.2 10362809 10375271 - 10501809 10514271 - 1580863;5131489;6480464 19934406 8666233;16280321;19091746;19073599;18931700;18922470;18089825;18003639;17728246;17223712;16949366;16611982;16381901;16156789;16132836;15850399;15647277;15592455;15489336;15489334;15082798;15001580;14743216;14718169;14701845;14668798;12930845;12907640;12489981;12477932;12437126;12176997;11916974;11864612;11413142;11256614;11085988;11076863;11036079;10858314;10617616;10022854;9685350;9242486;9150368;8885235;8703009;17353931;15643424;22674575;17054904;21833088;18029348;19615732;19858214;20056645;20159553;20299663;9660753;20562859;15344906;22863883;12471035;19875381;20462248;23383273;17620012;21367866;20811636;23402259;23455922;23569206;22199355;14676191;16196087;16306228;21487019;21871133;21875946;17709345;21675959;21151955;21860411;10409742;18781797;19026643;19786724;20305087;20663926;21139048;21890473;21900206;21903422;21906983;22315411;22727666;17979178;21360678;22810585;22912728;22939624;23000965;23281476;21163940;22939629;23128233;23428871;20642453;11867521;16321986;18359116;18367605;20697350;22451720;22612223;22729780;22952844 11140 K7EIU0;K7EJ06;K7EKQ2;K7EL68;K7EQA9;Q16543 ABBA01029932;AC011548;AC011557;AC134304;AMYH01009473;AY864824;BC000083;BC008793;BC127212;BC127213;BC141928;BC141929;BE796008;BT006796;CH471106;CR542249;NM_007065;U43077;U63131 AAB04798;AAB63979;AAH00083;AAH08793;AAI27213;AAI27214;AAI41929;AAI41930;AAP35442;AAW34362;ABM83100;ABM86295;CAG47045;CAL38163;CAL38227;EAW84101;EAW84102;EAW84103;NP_008996;Q16543 Hs.160958 1686044;2142520;2146513;2157739 D19S1108;RH101844;RH41901;RH80833 P50CDC37 CDC37 (cell division cycle 37, S. cerevisiae, homolog);CDC37 cell division cycle 37 homolog;cell division cycle 37 homolog;hsp90 chaperone protein kinase-targeting subunit;hsp90 co-chaperone Cdc37 APPROVED protein-coding ENSG00000105401 1735 05456 605065 REVIEWED 1351605 CDC42BPA CDC42 binding protein kinase alpha (DMPK-like) The protein encoded by this gene is a member of the Serine/Threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described, and the full-length nature of two of them has been reported. [provided by RefSeq, Jul 2008] 1 1 q42.11 225244189 225572449 - 227177566 227505826 - 6480464 9092543;11283256;9418861;18263588;17344417;16710414;16412980;15723050;12568720;12477932;12018391;11929873;11340065;10958655;10947843;10737800;10652353;10559936;10198171;9455484;20936779;11399775;15194684;20188707;21457715;18854160;21139048;21906983;22318606;22505724 8476 F5H5N0;H0Y5V1;H0Y6R0;H0Y6V3;H0Y7V8;Q86XX3 AB007920;AB208968;ABBA01009619;ABBA01009620;ABBA01009621;ABBA01009622;AF250871;AJ518975;AJ518976;AK027000;AK130237;AL353689;AL451047;AL627308;AMYH01001779;AMYH01001780;AY166586;BC008677;BC038993;BC050335;BC127831;BC136333;BF765241;BQ232716;BX648219;BX648693;CH471098;CR933723;NM_003607;NM_014826;U59305 AAB37126;AAF66437;AAI36334;AAI56893;AAN86031;BAA32296;BAB15619;BAD92205;CAD57745;CAD57746;CAI45998;CAI46252;EAW69806;EAW69807;EAW69808;EAW69809;NP_003598;NP_055641;Q5VT25 Hs.35433 1645697;1662912;1668376;1684060;1691154;1718049;2134349;2135330;2146769;2148044;2178926;5015861;5015961;5020946;5021872;5022788;5037552;7185938;7187461 A007H16;BCD141;CDC42BPA;D10S16;D15S1477;D1S271E;D8S2279;L17971;RH122642;RH46341;RH91332;RH99156;SHGC-76429;SHGC-76431;SHGC-76450;STS-N23124;sY3084 DKFZp686L1738;DKFZp686P1738;FLJ23347;KIAA0451;MRCK;MRCKA;PK428 CDC42 binidng protein kinase beta;CDC42-binding protein kinase alpha (DMPK-like);DMPK-like alpha;MRCK alpha;OTTHUMP00000035727;OTTHUMP00000035728;OTTHUMP00000035729;OTTHUMP00000035730;myotonic dystrophy kinase-related CDC42-binding kinase alpha;myotonic dystrophy kinase-related CDC42-binding protein kinase alpha;myotonic dystrophy protein kinase-like alpha;ser-thr protein kinase PK428;ser-thr protein kinase related to the myotonic dystrophy protein kinase;serine/threonine-protein kinase MRCK alpha APPROVED protein-coding ENSG00000143776 1737 04562 603412 REVIEWED 1316032 CDC40 cell division cycle 40 Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. [provided by RefSeq, Jul 2008] 6 6 6 q21 111248290 111300016 + 110608317 110660116 + 110501624 110553423 + 1580863;6480464;6907045 12226669;19420964;17081983;15761153;15489334;14702039;14574404;12477932;11991638;11102353;9830021;9769104;9303539;8889548;8125298;7568168;9524131;20614026;21628590;20508642;20360068 51362 H0Y7P6;O60508;Q5SRM9;Q5SRN1 AB208903;ABBA01026120;ABBA01026121;AF015044;AF038392;AF061241;AK001426;AK222721;AK295055;AK314601;AL671518;AMYH01016588;BC111061;BC117145;BC126114;CB242479;CH471051;NM_015891 AAC25166;AAC39730;AAD01552;AAI11062;AAI17146;AAI26115;ADR83227;BAD92140;BAD96441;BAG37172;BAG58104;EAW48319;EAW48320;EAW48321;EAW48322;EAW48323;EAW48324;NP_056975;O60508 Hs.428147 1797376 CDC40_2301 EHB3;FLJ10564;MGC102802;PRP17;PRPF17 EH-binding protein 3;OTTHUMP00000016996;OTTHUMP00000016997;OTTHUMP00000040437;PRP17 homolog;cell division cycle 40 homolog;cell division cycle 40 homolog (yeast);hPRP17;pre-mRNA splicing factor 17;pre-mRNA-processing factor 17 APPROVED protein-coding ENSG00000168438 17350 05721 605585 REVIEWED 730976 CDC42 cell division cycle 42 The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013] 1 1 p36.1 22251707 22292023 + 22379120 22419436 + 2311087;2293876;2293879;5688276;2298583;5688277;6480464;5688271;5688273;5688274;5688272;5688275;6484113;6907045;7240533 19295123;8910292;9305638;15736231;17161586;10817927;21266780;19432938;18391128;19700661;17971488;20626350 21221794;11943145;11907271;11889037;11884513;11839748;11822867;11773441;11756552;11696321;11672528;11584276;11583574;11438723;11394904;11287617;11284700;11278572;11257000;11130076;10975523;10967094;10954711;10954424;10934474;10873802;10818149;10799524;10799501;10749885;10747870;10733591;10724160;10713100;10676816;10551883;10490598;10480361;10320322;10211824;10068673;10051605;11035016;10587647;10816584;11260256;11584266;16407834;19596003;19463088;19454477;19416857;19356586;19307303;19273597;19109421;19039103;19001128;18974134;18937283;18922799;18838868;18835169;18728402;18656530;18628988;18586681;18575765;18565850;14505571;18552504;18541705;18541478;18541383;18432521;18403635;18348980;18334926;18325348;18319301;18287089;18245474;18245386;18235104;18057010;18056353;18056264;18045877;17976533;17702745;17693642;17664338;17567985;17538024;17521326;17517067;17513786;17513457;17356711;17346701;17301947;17300218;17115031;17074883;17038317;16930532;16880514;16864657;16849480;16710414;16443932;16322481;16253996;16246732;16228294;16204230;16201754;16189514;16169070;15901767;15833843;15822942;15821030;15803130;15793569;15728253;15723050;15713627;15652341;15649357;15616194;15489334;15472119;15361624;15355962;15304341;15287724;15265891;15194684;15187089;15133042;15123662;15123659;15121898;15102814;15075243;15023524;14970210;14733946;14701795;14699061;14676191;14656933;14563854;12972601;12960248;12960245;12928366;12915445;12901880;12900413;12887923;12887922;12887916;12860998;12824775;12769846;12767056;12612085;12595527;12584113;12547822;12511425;12477932;12453877;12432077;12426222;12376551;12369824;12270144;12235133;12181570;12172552;12115629;12093730;12032833;12006984;11998687;11973651;11948177;9860974;9822598;9799233;9786927;9760238;9748241;9742969;9705280;9642115;9582072;9535835;9427749;9422512;9381982;9268338;9262406;9220962;9210375;9182573;9113980;9079650;8969170;8943016;8889548;8798539;8756646;8755667;8702968;8670801;8625410;8107774;8034624;7744004;7738010;7665558;7629060;7547927;7513047;2496687;2124704;2122236;1956381;1898776;16687395;16356860;10713183;8994833;14597672;10366564;11162552;17353931;10781580;12110184;9535855;8643625;12650940;9490022;9407060;12504591;11432776;11431473;12857875;12819203;12446789;10854437;14749388;15147912;15260990;14530271;12944407;15864311;15735674;12606577;15652748;12538863;22821962;22610502;20849862;21356349;20730103;20936779;21036919;20631255;21302623;20215637;20067638;20545942;20530489;20806065;15923648;10360578;10360579;10802735;11090627;12421766;12456510;12745076;12879077;15451670;15824104;15834156;16293614;16983070;17254974;19435802;19473971;19561083;19622753;19635823;19640983;19641023;19667218;19692568;19709124;19710257;19718053;19726670;19752396;19778949;19787194;19819966;19826000;19933840;19934222;20056178;20130240;20403997;7493928;9032261;9082982;9338791;9418861;9660763;9846874;22393238;14978216;21167153;20945370;21165582;21240187;15485837;21186079;21295525;23142484;22719838;22939629;23029280;23178712;23295348;21685891;15642749;22126964;20086093;21311754;15655247;22863883;21667996;21435037;22385474;18624398;21562048;21900206;21603851;21866627;22023324;21952626;22093623;21613211;21139048;21618528;21906983;23358418;19322201;22770822;22341450;22318733;22362774;22266952;22608513;11331876;23455922;23583380;22683270;10684602;16678097;20696164;11807099;22213037;11157984;15085137;21890473;21963094;21988832;23000965;23197258;15306850;15761153;18363964;21048939;21454543;22053931;22505724;22796473;22844345;22092654;22589722;22891260;23148235 998 E7ETU3;P60953;Q5JYX0 ABBA01059840;ABBA01059841;AF498962;AF498963;AK297465;AK303994;AK311375;AK316449;AL031281;AL121734;AL121735;AL121736;AL121737;AMYH01000345;AMYH01000346;AMYH01000347;AY673602;BC002711;BC003682;BC018266;BC018622;BM684474;BP871988;CH471134;CS026525;M35543;M57298;NM_001039802;NM_001791;NM_044472 AAA52494;AAA52592;AAH02711;AAH03682;AAH18266;AAM21109;AAM21110;AAT70721;ABM82121;ABM85303;BAG59887;BAG64911;BAH14820;CAB57325;CAB57326;CAB57327;CAB57328;CAI61729;EAW95002;EAW95003;EAW95004;EAW95005;EAW95006;EAW95007;EAW95008;EAW95009;NP_001034891;NP_001782;NP_426359;P60953 Hs.467637 1654175;1657167;1657536;1663614;1673147;1788930;1795530;1857514;2125588;2167461;5022651;5093618;5117995;5127213 A009S40;CDC42_1530;D11S2921;G15855;G22163;G32824;G34846;GDB:636131;RH69132;SHGC-12429;SHGC-57553;SHGC-74349;UniSTS:224478;WI-18965 CDC42Hs;G25K G25K GTP-binding protein;GTP binding protein, 25kDa;GTP-binding protein, 25kD;OTTHUMP00000002834;OTTHUMP00000002926;OTTHUMP00000002927;cell division control protein 42 homolog;cell division cycle 42 (GTP binding protein, 25kDa);dJ224A6.1.1 (cell division cycle 42 (GTP-binding protein, 25kD));dJ224A6.1.2 (cell division cycle 42 (GTP-binding protein, 25kD));growth-regulating protein;small GTP binding protein CDC42 APPROVED protein-coding ENSG00000070831 1736 00309 116952 REVIEWED 1343898 CDC42P1 cell division cycle 42 pseudogene 1 20 20 20 q11.22 29739222 29740045 - 32453516 32454263 - 32989755 32990578 - 170503 ABBA01019198;AL356299;AMYH01011862;NG_001032;NG_023206 bK3216D2.3 pseudo 16339 INFERRED 2293180 CDC42P2 cell division cycle 42 pseudogene 2 7 7 7 p11.2 55808760 55809532 - 55673520 55674097 - 55705826 55706598 - 643336 ABBA01011859;AC099681;AMYH01017272;CH471201;NG_007652 EAW50974 2071716 REN107051 pseudo 33952 INFERRED 1351337 CDC42BPB CDC42 binding protein kinase beta (DMPK-like) This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008] 14 14 14 q32.3 83452838 83577854 - 102468469 102593495 - 103398716 103523742 - 6480464 10574461;17353931;9418861;18263588;17081983;15489334;12477932;12168954;10198171;20936779;21471979;14702039;20177145;20379614;21240187;18854160;22266860;21949762;21139048;21890473;21906983 9578 H0YLR5;H0YLY0;Q86XZ8;Q9Y5S2 AB032950;ABBA01048441;ABBA01048442;ABBA01048443;ABBA01048444;ABBA01048445;ABBA01048446;ABBA01048447;ABBA01048448;AF128625;AK094920;AK126684;AL117209;AL133455;AMYH01006039;AMYH01006040;AMYH01006041;BC047871;BC048261;BC155541;BX248752;BX647753;CH471061;DQ355971;NM_006035 AAD37506;AAH47871;AAH48261;AAI55542;AAI56937;ABC67469;BAA86438;CAD66559;EAW81800;EAW81801;NP_006026;Q9Y5S2 Hs.654634 1340418;1658840;1684417;1712284;1722857;1769685;2119742;2128248;2136705;2138743;2141141;2146110;2177253;5014051;5015619;5016478;5020946;5022200;5037552;5117897 D11S3114;D14S293;D8S2278;D8S2279;G24046;G35357;G35358;G35359;G35410;G35487;G35915;G36112;G54051;G60371;GDB:434012;GDB:631813;L17971;L18426;RH99029;SGC30775 DKFZp686H1431;FLJ37601;FLJ44730;KIAA1124;MRCKB CDC42-binding protein kinase beta (DMPK-like);CDC42BP-beta;DMPK-like beta;MRCK beta;myotonic dystrophy kinase-related CDC42-binding kinase beta;myotonic dystrophy protein kinase-like beta;serine/threonine-protein kinase MRCK beta APPROVED protein-coding ENSG00000198752 1738 08516 614062 REVIEWED 6904450 CDC42P3 cell division cycle 42 pseudogene 3 8 q24.3 144077327 144077899 + 16344560 100128627 ABBA01005279;AC105202;AMYH01019097;DA106474;NR_102426 pseudo 44427 VALIDATED 6904280 CDC42P4 cell division cycle 42 pseudogene 4 4 q25 110476326 110476885 + 100131440 ABBA01063777;AC105314;AMYH01014457;NG_022069 pseudo 44428 INFERRED 6904334 CDC42P6 cell division cycle 42 pseudogene 6 4 p15.2 22728045 22729646 - 10480361 643751 ABBA01032667;AC093917;AMYH01014056;CH471069;NG_008215 EAW92804;EAW92805;EAW92806 1335032;1335262;1339230;1644085;1654054;1668583;1673083;1706534;1714331;1716369;1716629;1718137;1719027;1722907;1723113;1728111;1730101;1730940;1763233;1778820;1784086;1785020;1787614;1855326;1857107;1857109;1857789;2110175;2110207;2114800;2121378;2122719;2123788;2132150;2133836;2136204;2147542;2147925;2156119;2167704;2180131;2182168;7183723;7183989 D10S2222;D4S1118;D4S1227;D4S1265;D4S1287;D4S1314;D4S1334;D4S1345;D4S2605;D4S2709;D4S2745;D4S2933;D4S2953;D4S326;D4S336;D4S425;D4S433E;D4S616;D4S812;D4S968;D4S972;G33991;G34202;G60548;G63327;L00811;RH119945;RH121364;RH121571;RH122836;RH123220;RH123742;SHGC-146964;SHGC-149745;SHGC-152689;SHGC-155986;SHGC-24823;SHGC-50645;SHGC-67794;SHGC-81240;stb108G15.p2;stb412P11.p1 APPROVED pseudo 44430 INFERRED 6904430 CDC42P5 cell division cycle 42 pseudogene 5 5 172512720 172513209 - 100507354 ABBA01044031;AC008378;AMYH01015822;NG_030075 pseudo 44429 INFERRED 1321045 CDC42EP2 CDC42 effector protein (Rho GTPase binding) 2 CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of CDC42. Coexpression of this protein with CDC42 suggested a role of this protein in actin filament assembly and cell shape control. [provided by RefSeq, Aug 2011] 11 11 11 q13 62408688 62416256 + 64838907 64846476 + 65082289 65089900 + 1580863;6480464 16344560;15489334;14702039;12477932;10490598;9253601;11035016;10430899;11584266;16395716;18541383;20936779;20934684;18029348 10435 O14613 ABBA01024129;AF001436;AF098290;AF163840;AF548903;AK098292;AK315444;AMYH01003718;AP000944;BC022337;BC075834;BT020004;CH471076;DA251345;NM_006779 AAB81206;AAD16185;AAD48784;AAH22337;AAH75834;AAN39381;AAV38807;ABM82914;ABM86104;BAG37832;BAG53607;EAW74374;NP_006770;O14613 Hs.343380;Hs.741371 1775102;2136419 RH11951;STS-Z39767 BORG1;CEP2 CRIB-containing BOGR1 protein;OTTHUMP00000231608;binder of Rho GTPases 1;cdc42 effector protein 2 APPROVED protein-coding ENSG00000149798 16263 09363 606132 REVIEWED 1322427 CDC42EP1 CDC42 effector protein (Rho GTPase binding) 1 CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. This protein is secreted and is primarily found in bone marrow. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 21758351 21767271 + 36286446 36295358 + 37956471 37965412 + 1580863;6480464 11035016;18029348;17081983;16344560;16189514;15574879;15489334;15461802;15345747;12665801;12477932;10591208;10490598;10430899;1629197;20936779;23383273;21139048;21890473 11135 B0QYC6;B0QYC7;B0QYC8;Q00587 ABBA01055473;AK292190;AL022315;AMYH01012753;BC009356;CH471095;CR456524;DA047271;M88338;NM_152243 AAA36606;AAH09356;ABM84385;ABM87281;BAF84879;CAG30410;CAK54555;CAK54854;EAW60164;EAW60165;EAW60166;NP_689449;Q00587 Hs.225356 1671438;2159285 STS-M88338;STS-R52295 BORG5;CEP1;MGC15316;MSE55 55 kDa bone marrow stromal/endothelial cell protein;OTTHUMP00000197884;binder of Rho GTPases 5;cdc42 effector protein 1;serum constituent protein;serum protein MSE55 APPROVED protein-coding ENSG00000128283 17014 07303 606084 REVIEWED 1314141 CDC42EP3 CDC42 effector protein (Rho GTPase binding) 3 This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of this gene is found on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 2 2 2 p21 37711639 37740219 - 37724247 37752830 - 37869025 37899678 - 6480464 16466844;16908841;17173092;17692555;22451153;22681909;16344560;11035016;11256614;17081983;16381901;16189514;16169070;15815621;15489336;15489334;15345747;14702039;12477932;11584266;11230166;11076863;10490598;9535835;18541383;20936779;21116278;20385374;20881960;21139048 10602 C9J7F7;C9JEZ4;C9JKW5;Q9UKI2 ABBA01074984;AC006369;AF094521;AF104857;AF164118;AK055915;AK128735;AK313483;AL136842;AL538577;AL567387;AMYH01010262;AMYH01010263;BC019270;BQ067953;BQ432066;BT007190;CH471053;DB121680;HY003915;HY017509;NM_001270436;NM_001270437;NM_001270438;NM_006449 AAC71773;AAD16888;AAD48815;AAH19270;AAP35854;AAX93072;BAG36267;BAG54721;CAB66776;CAL38536;EAX00390;NP_001257365;NP_001257366;NP_001257367;NP_006440;Q9UKI2 Hs.369574 1658167;1734250;1771998;1850615;2151669;2175875;2218350 CDC42EP3_4534;D2S1501E;D2S1680E;RH12830;RH16633;RH67826;WI-13652 BORG2;CEP3;FLJ46903;UB1 CRIB-containing BORG2 protein;MSE55-related Cdc42-binding protein;MSE55-related protein;OTTHUMP00000126964;OTTHUMP00000201951;OTTHUMP00000203201;OTTHUMP00000203202;binder of Rho GTPases 2;cdc42 effector protein 3 APPROVED protein-coding ENSG00000163171 16943 09364 606133 REVIEWED 1318117 CDC42EP5 CDC42 effector protein (Rho GTPase binding) 5 Cell division control protein 42 (CDC42), a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg (binder of Rho GTPases) family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to CDC42 and regulate its function negatively. The encoded protein may inhibit c-Jun N-terminal kinase (JNK) independently of CDC42 binding. The protein may also play a role in septin organization and inducing pseudopodia formation in fibroblasts [provided by RefSeq, Jul 2013] 19 19 19 q13.42 52016789 52024999 - 59668022 59676234 - 54976210 54984422 - 6480464 11035016;15489334;12477932;11584266;10490598;16344560 148170 Q6NZY7 ABBA01068156;ABBA01068157;AC008746;AI379873;AMYH01009976;BC024327;BC065910;CH471135;CU207370;CU467002;DA867588;NM_145057 AAH24327;AAH65910;EAW72252;NP_659494;Q6NZY7 Hs.415791 1815740;1827794;1834306;1846402;2043824;2043826;2043828;2043830;2043832;2043834;2043836;2043838;2043840;2043842;2043844;2043846;2043848;2043850;2043852;2043854;2043856;2043858;2043860;2043862;2043864;2043866;2043868;2043870;2043872;2043874;2043876;2043878;2043880;2043882;2043884;2043886;2043888;2043890;2043892;2043894;2043896;2104000;2104002;2104004;2104006 ECD08908;ECD15019;ECD18301;ECD24421;REN92963;REN92964;REN92965;REN92966;REN92967;REN92968;REN92969;REN92970;REN92971;REN92972;REN92973;REN92974;REN92975;REN92976;REN92977;REN92978;REN92979;REN92980;REN92981;REN92982;REN92983;REN92984;REN92985;REN92986;REN92987;REN92988;REN92989;REN92990;REN92991;REN92992;REN92993;REN92994;REN92995;REN92996;REN92997;REN92998;REN92999;stSG606088;stSG606089;stSG606090;stSG606091 Borg3;CEP5;MGC21945;MGC71153 1700027J19Rik;2010007O02Rik;OTTHUMP00000068391;binder of Rho GTPase 3-like;binder of Rho GTPases 3;cdc42 effector protein 5 APPROVED protein-coding ENSG00000167617 17408 13023 609171 REVIEWED 1323093 CDC42EP4 CDC42 effector protein (Rho GTPase binding) 4 The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control. [provided by RefSeq, Jul 2008] 17 17 17 q24-q25 67862911 67891275 - 68791358 68819738 - 71279763 71308143 - 1580863;6480464 17207965;11035016;17081983;16189514;15761153;15489334;15226823;14702039;12477932;11185749;10490598;22889411;20936779;17643375;18029348;21832049;21139048;21906983;19322201;23383273 23580 B2R6D8;B3KUS7;J3KRZ9;J3QQS6;J3QR93;Q9H3Q1 AB042237;ABBA01028865;ABBA01028866;ABBA01028867;AC087301;AF099664;AK027385;AK097835;AK312536;AL162074;AMYH01008619;BC002774;BC010451;BE387060;BI560730;CH471099;NM_012121 AAD16299;AAH02774;AAH10451;ADQ32045;BAB17272;BAG35435;BAG51313;BAG53539;EAW89123;EAW89124;NP_036253;Q9H3Q1 Hs.3903 1342376;1694826;1847226;2182024;5016438 A002D24;D17S757;G19982;RH121912;SHGC-11717 BORG4;CEP4;KAIA1777;MGC17125;MGC3740 binder of Rho GTPases 4;cdc42 effector protein 4 APPROVED protein-coding ENSG00000179604 17147 08383 605468 REVIEWED 1346360 CDC42SE1 CDC42 small effector 1 1 1 1 q21.3 124138756 124147427 - 149290071 149298749 - 151023447 151032125 - 1580863;6480464 10816584;15840583;15342556;12477932;18541383;20936779;12421766;18029348;21139048;19322201 56882 Q9NRR8 ABBA01049368;AF187845;AF286041;AF286592;AL590133;AMYH01001386;BC012796;BC041604;BP340339;BX339337;CH471121;NM_001038707;NM_020239 AAF87597;AAF97248;AAG17723;AAH12796;AAH41604;ABM85120;EAW53477;EAW53478;EAW53479;NP_001033796;NP_064624;Q9NRR8 Hs.22065 1647969;1687191;1687928;1689057;1851755;1853444 RH69823;RH79564;RH93368;RH98209;SHGC-37116;WI-17680 SCIP1;SPEC1 1300002M12Rik;CDC42 small effector protein 1;CDC42-binding protein SCIP1;OTTHUMP00000033118;signaling molecule SPEC1 beta;small effector of CDC42 protein 1;small protein effector 1 of Cdc42 protein-coding ENSG00000197622 17719 16694 VALIDATED 1343863 CDC42SE2 CDC42 small effector 2 5 5 5 q31.1 126730097 126860712 + 130627601 130758282 + 130599702 130730383 + 1580863;6480464 10816584;18804346;17030554;16344560;15840583;12477932;9110174;8619474;19322201;16712791;18029348;21906983;21987572 56990 D6REL0;H0Y9W5;Q9NRR3 ABBA01068826;ABBA01068827;ABBA01068828;ABBA01068829;ABBA01068830;ABBA01068831;AC004777;AC008497;AC009016;AC114275;AF131831;AF189692;AI440226;AK025620;AK312406;AMYH01015609;AMYH01015610;BC023555;BC050430;BC058909;BC096703;BC096738;BC098349;BI460220;BI522591;CB135092;CH471062;DA321488;NM_001038702;NM_020240 AAF87598;AAH96703;AAH96738;AAH98349;BAG35319;EAW62372;EAW62373;NP_001033791;NP_064625;Q9NRR3 Hs.508829;Hs.713870 1671925;1673440;1688566;1693730;1739331;2135415;2137051;2146091;2151950;2154417;2178183;2184079;5037552;5093672 A008N05;A009U40;D5S1427;D5S1804E;D8S2279;G32856;RH12501;RH16185;RH46287;RH47655;RH99239;SHGC-34691;SHGC-58802;WI-17021 FLJ21967;SPEC2 CDC42 small effector protein 2;OTTHUMP00000222550;OTTHUMP00000222551;non-kinase Cdc42 effector protein SPEC2;small effector of CDC42 protein 2 protein-coding ENSG00000158985 18547 16695 VALIDATED 1319341 CDC6 cell division cycle 6 The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008] 17 17 q21.3 35697672 35712939 + 38444146 38459413 + 6480464;6907045;7240710 15887248;8990175;10995389;15232106;9566895;10339564;10436018;11095689;11125146;11931757;12045100;15226314;15707391;19520769;19343071;19321444;19233139;19189662;19107233;19101572;19074885;18640135;18617514;18458079;18397887;18259842;18048387;18006835;17689530;17567951;16801388;16572177;16439999;16055707;15696126;15590906;15489334;14749377;14672932;14517333;12912926;12614612;12554670;12538639;12477932;12429841;12151338;12006585;11846807;11779870;11346650;11046155;10899308;10629059;10464337;10214964;9925618;9889196;9857179;9778043;9774682;9520412;15050687;18162579;15684404;15861133;10766737;22523071;20606534;20800603;21041660;21048031;12791985;18761675;19154794;19950599;20048340;16428461;19462008;21358632;21088490;22871742;20813683;23011157;21383955;14701726;20360068;22201124;22223646;21906983;21963094;21519187;22262174;23479742;22589552;21988832;22094256;23129444;22974333;22179839 990 J3KTI7;J3QLN7;J3QR52;Q99741 AA210818;AB010492;ABBA01031832;ABBA01031833;AC080112;AF022109;AJ009560;AK313620;AMYH01008384;AY150310;BC025232;BE296640;BE548194;BF203219;CH471152;CQ789346;NG_028240;NM_001254;U77949 AAB38317;AAC52071;AAH25232;AAN10296;ABM83766;ABM87086;BAG36382;CAG24445;EAW60650;EAW60651;NP_001245;Q99741 Hs.405958 1665410;1791398;1795532;2175706 CDC6_1451;PMC109252P1;RH70424;STS-U77949 CDC18L;HsCDC18;HsCDC6 CDC18 (cell division cycle 18, S.pombe, homolog)-like;CDC6 cell division cycle 6 homolog;CDC6-related protein;OTTHUMP00000164449;cdc18-related protein;cdc6 cell division cycle 6 homolog (s. cerevisiae);cell division control protein 6 homolog;cell division cycle 6 homolog;cell division cycle 6 protein;p62(cdc6) APPROVED protein-coding ENSG00000094804 1744 04022 602627;613805 REVIEWED 1352573 CDC45 cell division cycle 45 The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 q11.21 17847416 17888135 + 19467414 19508135 + 1580863;6480464;6907045 10518787;12791985;9660782;18029348;15226314;15707391;19074885;19054765;18347181;18239674;17887956;17767920;17608804;17573775;17557111;17046832;16912045;15489334;15461802;15232106;12975309;12614612;12477932;10051334;9914182;9724329;18247557;21145461;16341674;19805216;20065034;20124417;20379614;16902406;21383955;23390603;11850621;20818375;21149733;15753125;22474384;15174051;21963094;21988832;23000965;21139048;21890473;21906983;22147708;22536402;22053931;22505724 8318 C9J911;C9K087;H7BZ91;O75419 ABBA01005411;AC000082;AC000087;AC000088;AF053074;AF062495;AF081535;AJ223728;AK293123;AK293338;AK302590;AK303274;AMYH01012479;AY358971;AY572790;BC006232;BC010022;BM751026;BT006792;CH471176;CT841513;HY016491;JA893796;NM_001178010;NM_001178011;NM_003504 AAC27289;AAC67521;AAD08998;AAH06232;AAH10022;AAP35438;AAQ89330;AAS66985;ABM83577;ABM84716;ABM86816;ABM92238;BAG56675;BAG56854;BAG63843;BAG64354;CAA11530;CAJ86443;CAK54407;CAK54706;CCV01316;EAX03036;NP_001171481;NP_001171482;NP_003495;O75419 Hs.474217;Hs.742418 1712022;2112464;2112468;2112474;2112498;2123825;5093798 A009W46;D22S1618;D22S1619;D22S1622;D22S1664;G32930;RH118685 CDC45L;CDC45L2;PORC-PI-1 CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like;CDC45 cell division cycle 45 homolog;CDC45 cell division cycle 45-like;CDC45-related protein;OTTHUMP00000197247;OTTHUMP00000197248;cell division control protein 45 homolog;cell division cycle 45 homolog;cell division cycle 45-like 2;human CDC45 APPROVED protein-coding ENSG00000093009 1739 09145 603465 REVIEWED 731949 CDC5L cell division cycle 5-like The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008] 6 6 p21 44463280 44522758 + 44355251 44418161 + 6480464;6907045 21628590;22763110;8917598;18722174;18029348;19240061;18583928;18567798;18330920;17353931;17081983;16216881;15489334;15324660;15232106;14729942;14702039;14576297;14574404;14515018;12927788;12477932;12168954;11991638;11544257;11329013;11101529;11082045;10827081;10570151;9731529;9632794;9598309;9468527;9455477;9038199;17332742;20467437;16159877;19454010;20211142;16223718;17276391;21145461;16332694;17148452;19633697;19641227;21036905;21385873;23084401;20176811;21536736;20508642;22990118;12840015;20595234;21081666;16341674;20360068;15660529;22446626;15840729;17043677;19596686;21139048;21693764;21890473;21906983;19471022;21907836;22939629;23022480;22174317;22944692;21988832;22365833;22751105;22941190 988 Q99459 AB007892;ABBA01050639;AK128737;AK299738;AL133262;AL353588;AMYH01016322;AMYH01016323;AMYH01016324;AY518540;BC001568;BG187521;BG497404;BM829346;CH471081;D85423;DC422730;NM_001253;U86753 AAB61210;AAH01568;AAR89913;ABM82549;ABM85740;BAA20885;BAA24862;BAG54722;BAG61633;EAX04270;NP_001244;Q99459 Hs.485471 1854384;2134189;2150816;2150818;2190521;2191153;5109663;5118444 A001V05;D11S3316;D7S2067E;EST15C11;G19678;MARC_15357-15358:1017682310:1;STS-R38882;WI-19876 CDC5;CDC5-LIKE;CEF1;KIAA0432;PCDC5RP;dJ319D22.1;hCDC5 CDC5 (cell division cycle 5, S. pombe, homolog)-like;CDC5 cell division cycle 5-like;Cdc5-related protein;Cell division cycle 5, S. pombe, homolog-like;OTTHUMP00000016529;cell division cycle 5-like (s. pombe);cell division cycle 5-like protein;dJ319D22.1 (CDC5-like protein);pombe cdc5-related protein APPROVED protein-coding ENSG00000096401 1743 04184 602868 REVIEWED 1353399 CDCA6 cell division cycle associated 6 BG354579 14627 1318070 CDC7 cell division cycle 7 This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq, Aug 2008] 1 1 p22 91739032 91763902 + 91966404 91991321 + 1580863;6480464;6907045 15232106;12791985;9405610;17102137;9250678;10846177;15226314;15707391;19647517;19278428;19111665;19054765;18714392;18625709;18286467;17711849;17062569;17046832;16899510;16864800;16826239;16710414;16446360;16344560;16082200;15668232;15489334;15474462;15466207;12614612;12477932;12065429;11568184;10523313;10373557;9573348;8889549;19318489;19426592;19864417;19896697;20548946;20421204;21098111;20647475;20707412;16912045;20819778;18084324;21307088;21832049;21536671;22318606;21139048;21906983;17927916;22574151;21963094;21988832;22806309;22528513;16954377;23066029 8317 B1AMW7;B2R6V2;J3KQS2;O00311 AB003698;AB209337;ABBA01045565;AC021075;AC098691;AF005209;AF015592;AI672674;AK298963;AK312726;AL355871;AMYH01000790;AY312583;AY585721;BC110526;BC110527;BC111044;CH471097;DA127303;DA791490;N62245;NM_001134419;NM_001134420;NM_003503 AAB97512;AAC52080;AAI10527;AAI10528;AAI11045;AAR16187;AAS79323;BAA19962;BAD92574;BAG35599;BAH12913;EAW73114;EAW73115;NP_001127891;NP_001127892;NP_003494;O00311 Hs.533573 1665487;1692366;2106985 AL034044;CDC7_7915;SHGC-36224 CDC7L1;HsCDC7;Hsk1;MGC117361;MGC126237;MGC126238;huCDC7 CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1;CDC7-related kinase;OTTHUMP00000011788;cdc7 cell division cycle 7 (s. cerevisiae);cell division cycle 7 homolog;cell division cycle 7-like protein 1;cell division cycle 7-related protein kinase APPROVED protein-coding ENSG00000097046 1745 10345 603311 REVIEWED 1345166 CDCA3 cell division cycle associated 3 12 12 12 p13 8575256 8577742 - 6828253 6830686 - 6957972 6960456 - 6480464 16189514;15733861;14702039;12679038;12477932;12188893;9074930;8723724;20416077;22839099;21832049;22939629;21139048;19159283;20581839;21988832;23219899;15070733 83461 B2R749;F5GX58;J3KMY0;Q99618 ABBA01017662;AK092246;AK291421;AK312843;AMYH01004209;BC002551;BC036512;CD106434;CH471116;CS185564;NM_031299;U47924 AAB51327;AAH02551;AAH36512;BAF84110;BAG35696;CAJ42745;EAW88728;EAW88729;NP_112589;Q99618 Hs.524216 FBXO52;GRCC8;MGC2577;TOME-1 OTTHUMP00000239926;OTTHUMP00000239927;OTTHUMP00000239928;OTTHUMP00000239929;cell division cycle-associated protein 3;gene rich cluster, C8;gene-rich cluster protein C8;trigger of mitotic entry 1;trigger of mitotic entry protein 1 protein-coding ENSG00000111665 14624 09670 607749 VALIDATED 1322226 CDCA2 cell division cycle associated 2 8 8 8 p21.2 24278060 24326920 + 25372428 25421342 + 25316513 25365425 + 6480464 16492807;14702039;12477932;12188893;20379614;20188555;16998479;18029348;21514157;21820363;21900206;19471022;21139048;21555454;21890473;22801782 157313 E9PEI0;Q69YH5 ABBA01005564;AC103779;AK092164;AK098670;AK292505;AK299278;AL833396;AL833627;AMYH01018582;BC015691;BC036214;BC063651;BC085609;BC104450;BC104451;BG354575;BG716934;BM802460;BX649008;NM_152562;R95735 AAH36214;AAH63651;AAH85609;AAI04451;AAI04452;BAC05374;BAF85194;BAG52490;BAH12991;CAH10577;CAH10585;NP_689775;Q69YH5 Hs.33366 1688142;1854196;2119822 RH91580;SHGC-36250;WI-11501 FLJ25804;MGC129906;MGC129907;Repo-Man OTTHUMP00000125276;OTTHUMP00000225069;cell division cycle-associated protein 2;protein phosphatase 1 [gamma] (PPP1R3A) binding protein Repo-Man;recruits PP1 onto mitotic chromatin at anaphase protein protein-coding ENSG00000184661 14623 13014 VALIDATED 1323393 CDC73 cell division cycle 73 This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009] 1 1 q25 191357784 191487679 + 193091088 193223945 + 6480464 16630820;17113272;19474519;19351817;19136632;19081034;19058032;19017757;18987311;18755853;18687124;18436011;18338208;18217513;18080135;17923126;17555500;17404568;17314275;17138574;17130827;16989776;16728578;16710414;21240254;16448924;16116486;16061557;15956079;15923622;15635413;15632063;15613436;15580289;15531515;15489334;15070940;15046109;15046107;15046105;15046102;15046098;15046094;15046050;14985403;14985373;14715834;14702039;14585940;12960210;12477932;12434154;11951180;11318611;8125298;7717405;16169070;20304979;20541447;21717873;16307923;17643375;18469135;19169472;19332451;20026646;20480190;22187299;22451921;22532828;20052758;21360064;22863883;22932087;21315421;20541477;21221636;23029479;20178742;21652691;21692036;21732217;21900206;21726809;21139048;21693764;21890473;21906983;21963094;19471022;20305087;22021426;20301744;22589738;22939629;23166327;19805454;23000965;22505724;22987117;23029104 79577 B4DV47;Q6P1J9 ABBA01027636;AF312865;AI638120;AK026969;AK226038;AK300929;AK314772;AL139133;AL390863;AMYH01001593;BC007325;BC013075;BC014351;BC065037;BM471846;BU428536;CH471067;DC298135;NG_012691;NM_024529 AAG45339;AAH07325;AAH14351;AAH65037;ACE86624;ACE87305;BAB15608;BAG37309;BAG62559;EAW91250;NP_078805;Q6P1J9 Hs.378996 1644406;1644987;1652837;1666626;1712835;1739003;1746457;1847671;1847722;2118010;2118012;2174600;2219024;2219816;5017873;5092902 A005A18;A009C03;AL009959;B3GALT2_4411;CDC73;D1S2239;D1S2534;G20261;G32402;G64641;HRPT2__6588;RH120134;SGC32835;SHGC-37629;SHGC-76070;SHGC-76074 C1orf28;FLJ23316;HPTJT;HRPT2;HYX OTTHUMP00000033765;Paf1/RNA polymerase II complex component;cell division cycle 73, Paf1/RNA polymerase II complex component, homolog;cell division cycle protein 73 homolog;hyperparathyroidism 2 protein;parafibromin APPROVED protein-coding ENSG00000134371 16783 09581 607393 REVIEWED 1348557 CDCA4 cell division cycle associated 4 This gene encodes a protein that belongs to the E2F family of transcription factors. This protein regulates E2F-dependent transcriptional activation and cell proliferation, mainly through the E2F/retinoblastoma protein pathway. It also functions in the regulaton of JUN oncogene expression. This protein shows distinctive nuclear-mitotic apparatus distribution, it is involved in spindle organization from prometaphase, and may also play a role as a midzone factor involved in chromosome segregation or cytokinesis. Two alternatively spliced transcript variants encoding the same protein have been noted for this gene. Two pseudogenes have also been identified on chromosome 1. [provided by RefSeq, Sep 2008] 14 14 14 q32.33 85530125 85541645 - 104547318 104558538 - 105475910 105487425 - 6480464 18572021;18498124;16984923;15489334;15146197;14702039;12477932;12188893;11482882;17141982;19156129;21906983;19322201 55038 Q9BXL8 ABBA01008850;ABBA01008851;AF322239;AK000771;AK303947;AL512356;AL512802;AMYH01006073;BC011736;BC025263;BG354577;BG703331;CH471061;CN427719;NM_017955;NM_145701 AAH11736;AAH25263;AAK31075;ABM84334;ABM87725;BAA91373;BAG64875;EAW81894;EAW81895;EAW81896;EAW81897;NP_060425;NP_663747;Q9BXL8 Hs.34045 2109121 CDCA4_9866 FLJ20764;FLJ52878;HEPP;MGC19517;SEI-3/HEPP OTTHUMP00000244376;OTTHUMP00000244377;cell division cycle-associated protein 4;hematopoietic progenitor protein APPROVED protein-coding ENSG00000170779 14625 13015 612270 REVIEWED 1350338 CDCA5 cell division cycle associated 5 11 11 11 q12.1 62171226 62177913 - 64601503 64608100 - 64844927 64851615 - 1580863;6480464 15837422;17361102;17349791;17081983;16964243;15489334;15146197;14702039;12477932;12188893;16169070;20379614;11111111;18029348;20551060;21115494;22939629;20360068;21987589;21890473;22833568 113130 B5MBX0;H0YCL8;H0YCR8;H0YCT9;H0YCZ9;Q3C1X4;Q96FF9 ABBA01024136;AK093670;AK291490;AL832526;AMYH01003716;AP003068;BC011000;CH471076;CN332525;NM_080668 AAH11000;ABM84177;ABM87579;BAF84179;BAG52747;EAW74342;EAW74343;NP_542399;Q96FF9 Hs.434886 1653407;2158742 A002B21;WI-21617 MGC16386;SORORIN OTTHUMP00000230376;OTTHUMP00000230378;cell division cycle-associated protein 5;p35;sororin protein-coding ENSG00000146670 14626 13016 609374 VALIDATED 1603885 CDCP2 CUB domain containing protein 2 1 1 1 p32.3 52892335 52907106 - 54377256 54392031 - 54604668 54619443 - 17388942;12477932 200008 Q5VXM1 ABBA01074727;AL357673;AMYH01000632;CH471059;CQ725837;NM_201546 AAI41441;EAX06701;NP_963840;Q5VXM1 CUB domain-containing protein 2;OTTHUMP00000009800 protein-coding ENSG00000157211 27297 14122 612320 PROVISIONAL 1319671 CDCA7 cell division cycle associated 7 This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found to enhance the transformation of lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 2 2 2 q31 167832966 167847127 + 173927807 173941964 + 174219561 174233718 + 6480464 11598121;16580749;16344560;15994934;15815621;15489334;14702039;12477932;12188893;8125298;17207965;19454010;21832049;22505724;23166294 83879 B4DLP8;B4DV66;F8WBA7;Q9BWT1 ABBA01020752;AC092573;AK027628;AK027642;AK075134;AK223524;AK297097;AK297245;AK300949;AL833728;AL834186;AMYH01011272;AMYH01011273;AY029179;BC015124;BC027966;CH471058;DA531905;NM_031942;NM_145810 AAH15124;AAH27966;AAK31591;AAX82003;ADQ32287;BAB55245;BAB55258;BAC11425;BAD97244;BAG59610;BAG59725;BAG62578;CAH56253;CAH56357;EAX11158;EAX11159;EAX11160;EAX11161;NP_114148;NP_665809;Q9BWT1 Hs.470654 1739017;2145950;2171723;2187235 D2S1876;RH36259;RH36440;WIAF-2093 FLJ14722;FLJ14736;JPO1;MGC34109 OTTHUMP00000163138;OTTHUMP00000163139;OTTHUMP00000205094;OTTHUMP00000205095;c-Myc target JPO1;cell division cycle associated protein 7;cell division cycle-associated protein 7 APPROVED protein-coding ENSG00000144354 14628 09874 609937 REVIEWED 1601855 CDCP1 CUB domain containing protein 1 This gene encodes a transmembrane protein which contains three extracellular CUB domains and acts as a substrate for Src family kinases. The protein plays a role in the tyrosine phosphorylation-dependent regulation of cellular events that are involved in tumor invasion and metastasis. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] 3 3 p21.31 45098773 45162918 - 45123769 45187914 - 6480464 22457534;19077003;18483744;18483259;18467693;18269919;17785447;17335815;16926850;16404722;16007225;15851033;15489334;15153610;14739293;14702039;12975309;12799299;12660814;12477932;11466621;8647901;20372833;20501830;19318475;19671673;19916495;20551327;21220330;21189288;21233420;23300860;21994943;21490433;21559459;21812858;16823897;19349359;21617380;22315226;21706059;21725358;21906983;15174051;23378636 64866 Q9H5V8 ABBA01024733;AC104165;AC105902;AF468010;AK023834;AK026187;AK026329;AK026622;AK314441;AMYH01013126;AY026461;AY167484;AY358779;AY375452;BC021099;BC069254;CD367582;CH471055;NM_022842;NM_178181 AAH21099;AAH69254;AAI48606;AAI53170;AAK02058;AAO33397;AAO34538;AAQ89139;AAR21289;BAB14695;BAB15388;BAB15511;EAW64737;EAW64738;NP_073753;NP_835488;Q9H5V8 Hs.476093 1691074;1756919;5024761 RH36905;RH91971;SHGC-144084 CD318;SIMA135;TRASK CUB domain-containing protein 1;OTTHUMP00000164120;OTTHUMP00000209568;membrane glycoprotein gp140;subtractive immunization M plus HEp3-associated 135 kDa protein;transmembrane and associated with src kinases APPROVED protein-coding ENSG00000163814 24357 16696 611735 REVIEWED 3436175 CDH12P1 cadherin 12 (N-cadherin 2) pseudogene 1 5 5 q13.2 70191865 70192166 - 70156110 70156411 - 7731968 100093625 AC139834;AMYH01015399;NG_007328 pseudo 37698 INFERRED 1344160 CDH12P2 cadherin 12 (N-cadherin 2) pseudogene 2 5 5 q13.1 69316783 69317083 - 69280926 69281427 - 10369862;7731968 1011 AC004999;AC139277;AC146335;AMYH01015399;NG_007326 C41-CAD;CDH12P APPROVED pseudo 1752 INFERRED 3436176 CDH12P3 cadherin 12 (N-cadherin 2) pseudogene 3 5 q13.2 69428502 69428803 + 7731968 100093624 AC139494;AC140134;AMYH01015250;NG_007327 pseudo 37699 INFERRED 3436174 CDH12P4 cadherin 12 (N-cadherin 2) pseudogene 4 5 5 q13.2 70464572 70464873 + 70428816 70429117 + 7731968 100093626 AC145138;AC146335;AMYH01015400;NG_007329 pseudo 37700 INFERRED 1602109 CDCA7L cell division cycle associated 7-like 7 7 7 p15.3 21926218 21971211 - 21907044 21952031 - 21940517 21985542 - 6480464 17669426;17081983;16829576;16735438;16728402;16565220;15994933;15654081;15489334;14702039;12853948;12690205;12477932;7829101;16344560;22318606;17207965;18029348;20189936;19454010;21890473;21906983;19322201;21654740;22505724 55536 A8K8X5;C9IZR6;C9J8L0;C9JFL7;H7C1J6;Q8IXN5 AA922229;AACC02000007;ABBA01056686;ABBA01056687;AC074379;AC099653;AK022955;AK095965;AK292490;AK300781;AL359619;AL576822;AMYH01017105;AY161168;AY161169;BC009352;BC014630;BC025242;BC032576;BC039823;BI493265;BU753973;BX112809;BX422040;CH236948;CH471073;DA041070;DC331792;NM_001127370;NM_001127371;NM_018719 AAH09352;AAH14630;AAH25242;AAH32576;AAH39823;AAO17570;AAO17571;AAS02007;ADQ33006;BAB14330;BAF85179;BAG53177;BAG62445;CAB94887;EAL24271;EAW93740;EAW93741;EAW93742;EAW93743;EAW93744;NP_001120842;NP_001120843;NP_061189;Q96GN5 Hs.520245;Hs.744069 1688809;2137585 RH65966;RH75427 DKFZp762L0311;JPO2;R1;RAM2 OTTHUMP00000158537;OTTHUMP00000201868;OTTHUMP00000225272;cell division cycle-associated 7-like protein;transcription factor RAM2 protein-coding ENSG00000164649 30777 11481 609685 VALIDATED 1346860 CDCA8 cell division cycle associated 8 This gene encodes a component of the chromosomal passenger complex. This complex is an essential regulator of mitosis and cell division. This protein is cell-cycle regulated and is required for chromatin-induced microtubule stabilization and spindle formation. Alternate splicing results in multiple transcript variants. Pseudgenes of this gene are found on chromosomes 7, 8 and 16. [provided by RefSeq, Apr 2013] 1 1 p34.3 37930746 37947978 + 38158073 38175391 + 6480464 16239925;16291752;18946085;18311593;17956729;17881355;17716930;17483322;17241471;16571674;16565220;16547492;16436504;16427043;15635413;15561729;15489334;15260989;15249581;14702039;12477932;12188893;8125298;18243099;18591255;19530738;19710015;19951914;20739936;18029348;17207965;20803554;20562864;17099693;20360068;21554500;21139048;21906983;19322201;22724069;21988832;23000965;22797924;20929775 55143 Q53HL2 ABBA01023270;AC104336;AK001330;AK022104;AK022606;AK026423;AK222549;AK222568;AK291917;AK302116;AMYH01000502;AY508815;BC000703;BC001651;BC008079;BC016944;CH471059;NM_001256875;NM_018101 AAH00703;AAH01651;AAH08079;AAH16944;AAR91699;ADQ31660;BAA91629;BAB13961;BAB14125;BAD96269;BAD96288;BAF84606;BAG63495;EAX07324;EAX07325;NP_001243804;NP_060571;Q53HL2 Hs.524571 1653375;1678027;2119301;2219052 CDCA8_4535;RH66677;RH93640;SHGC-56435 BOR;BOREALIN;DasraB;FLJ10468;FLJ12042;MESRGP Dasra B;OTTHUMP00000004514;OTTHUMP00000004515;borealin;cell division cycle-associated protein 8;dasra-B;hDasra-B;pluripotent embryonic stem cell-related gene 3 protein APPROVED protein-coding ENSG00000134690 14629 13017 609977 REVIEWED 1350088 CDH10 cadherin 10, type 2 (T2-cadherin) This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is predominantly expressed in brain and is putatively involved in synaptic adhesions, axon outgrowth and guidance. [provided by RefSeq, Jan 2011] 5 5 5 p14.2 24372049 24530965 - 24522967 24680668 - 24487209 24645085 - 1580863;6480464 19404256;12389209;10861224;10386616;2059658;16169070;12477932;16344560;19456320;20379614;7806582;8889549;9219219;22846907;23279374 1008 D6RJG0;Q9Y6N8 AA209467;AB035303;ABBA01066629;ABBA01066630;AC010387;AC091885;AMYH01014974;AMYH01014975;BC144168;BM126883;CH471118;DA229466;NM_006727 AAI52829;AAI56819;BAA87417;EAX10742;NP_006718;Q9Y6N8 Hs.92489 1673338;1682265;1725235;1785502;1788974;1795534;2151041 CDH10_5;G65564;HSC1GA082;RH118910;RH12465;RH79643;SHGC-153792 OTTHUMP00000115830;OTTHUMP00000220799;T2-cadherin;cadherin-10 APPROVED protein-coding ENSG00000040731 1749 05187 604555 REVIEWED 1351773 CDH11 cadherin 11, type 2, OB-cadherin (osteoblast) This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Expression of this particular cadherin in osteoblastic cell lines, and its upregulation during differentiation, suggests a specific function in bone development and maintenance. [provided by RefSeq, Jul 2008] 16 16 q21 63538184 63713420 - 64980683 65155919 - 1580863;6480464 22267545;17474147;8163513;19339270;19133007;18821672;18708358;18575746;18359978;18193170;17292535;16651616;15743489;15509545;15383628;14985702;14625392;12477932;11775026;10760957;10550312;10398117;10320525;10029089;9615235;9520111;7982033;2059658;22139084;19274078;19996288;20379614;7806582;9219219;23162011;21798287;21536877;21990376;21722156;22374749 1009 H3BP26;H3BPQ2;H3BQB5;H3BQH2;H3BR78;H3BSM4;H3BUU9;P55287 AB209760;ABBA01025387;ABBA01025388;AC010533;AC137643;AF060369;AF060370;AK291251;AK294872;AK297377;AK308000;AMYH01007731;BC013609;CH471092;D21254;D21255;L34056;NG_029491;NM_001797 AAA35622;AAD27755;AAD27756;AAH13609;ADZ15485;BAA04798;BAA04799;BAD92997;BAF83940;BAG59819;BAH11907;EAW83000;EAW83001;EAW83002;NP_001788;P55287 Hs.116471 1339102;1662222;1673354;1713585;1730155;1738785;1753695;1850001;2152888;2172012;2185066;2217138 CDH11_3314;D16S2861;D16S2936E;D16S3050;D16S3228;D16S3238;D16S438E;RH120288;RH68896;SHGC-10595;SHGC-107626;SHGC-7105 CAD11;CDHOB;OB;OSF-4 OB-cadherin;OTTHUMP00000174770;OTTHUMP00000174771;cadherin-11;osteoblast cadherin APPROVED protein-coding 1750 08960 600023 REVIEWED 737413 CDH1 cadherin 1, type 1, E-cadherin (epithelial) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function is thought to contribute to progression in cancer by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. Identified transcript variants arise from mutation at consensus splice sites. [provided by RefSeq, Jul 2008] 16 16 q22.1 67328696 67426945 + 68771195 68869444 + 1599556;1599548;1599549;1580863;2289479;2289488;2289491;2289492;2289494;2289497;2289447;2289450;2289487;2289489;2289490;2289493;2289498;2289638;2289457;2296046;2296045;2289683;5132892;5132878;5132890;6480464;6484113;6907045;7240710;7242059 16329148;15831593;17167984;18183597;18008331;17760743;17660459;18035404;15785075;18225549;18213475;18056176;17906660;17894941;17656222;17649807;17295234;18210882;18097581;18295959;16837908;20495078;21540309;16924102;15203750 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443;22767590;22770219;23122825;23261830;23322209;23410973;23070965;23244126;23341533;22573479;22752307;23339695;22535324;22576709;22799630;16125672;22330421;22411584;22685614;23047512;23065281;23067217;23093058;23298185;23671930;21781454;22886823;22912891;23029385;23042269;23160376;22792244;22967445;23355201;22158034;22426463;22780949 999 H3BNC6;H3BVI7;J3QKP1;P12830;Q9UII8 AB025105;AB025106;ABBA01025502;ABBA01025503;ABBA01025504;ABBA01025505;AC099314;AI890107;AK290012;AK297913;AK309703;AK311198;AK312551;AMYH01007762;AMYH01007763;BC013851;BC141838;BC144283;BC146662;CH471092;D49685;DQ090940;EU709494;L08599;L34545;L34789;NG_008021;NM_004360;S72492;X12790;X52279;Z13009;Z18923;Z35402 AAA21764;AAA61259;AAD14108;AAI41839;AAI46663;AAY68225;ACD87624;BAA08537;BAA88956;BAA88957;BAF82701;BAG35448;BAG60232;CAA31279;CAA36522;CAA78353;CAA79356;CAA84586;EAW83242;EAW83243;EAW83244;EAW83245;NP_004351;P12830 Hs.461086 1646704;1683090;1685189;1688634;1743611;1765829;1769104;1773113;1792000;1792042;1792044;1792046;1792048;1792050;1794912;1795542;1852424;2114571;5022578;5022651;5120566;5120568;5120570;5120572;5120574;5120576;5120578;5120580;5120582;5120584;5120586;5120588;5492113 A008N17;CDH1_96.2;Cdh1;D11S2921;D1S1423;GDB:361044;GDB:361074;GDB:361084;GDB:361089;GDB:361093;GDB:361098;GDB:361103;GDB:361109;GDB:361113;GDB:361120;GDB:361125;GDB:361128;GDB:361131;PMC134726P1;PMC135805P1;PMC135805P2;PMC135805P3;PMC135805P4;PMC135805P5;PMC84611P1;RH64967;RH64971;RH65826;RH68244;RH91417;SHGC-149254;SHGC-33499;STS-T85105 Arc-1;CD324;CDHE;ECAD;LCAM;UVO CAM 120/80;E-Cadherin;OTTHUMP00000174868;cadherin 1;cadherin 1, E-cadherin (epithelial);cadherin-1;calcium-dependent adhesion protein, epithelial;cell-CAM 120/80;epithelial cadherin;uvomorulin APPROVED protein-coding ENSG00000039068 1748 01885 114480;137215;167000;176807;192090;608089 REVIEWED 1343875 CDH12 cadherin 12, type 2 (N-cadherin 2) This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Jul 2008] 5 5 5 p14.3 21615397 22740089 - 21786911 22889488 - 21750973 22853731 - 1580863;6480464 14702039;12477932;10861224;10191097;9615235;9122206;7982033;7731968;7545953;2059658;1436057;19473719;19557197;19567891;20379614;20453000;7806582;9219219;21573496;23502783 1010 B7Z2U6;P55289 ABBA01066575;ABBA01066576;ABBA01066577;ABBA01066578;ABBA01066579;ABBA01066580;ABBA01066581;ABBA01066582;ABBA01066583;ABBA01066584;ABBA01066585;ABBA01066586;ABBA01066587;ABBA01066588;ABBA01066589;ABBA01066590;ABBA01066591;ABBA01066592;ABBA01066593;ABBA01066594;ABBA01066595;ABBA01066596;ABBA01066597;ABBA01066598;ABBA01066599;ABBA01066600;ABBA01066601;ABBA01066602;ABBA01066603;AC022139;AC026716;AC034239;AC091938;AC093263;AC108089;AC109455;AC138854;AC138940;AC139497;AC140132;AC140171;AK092176;AK295123;AK314800;AMYH01014966;AMYH01014967;AMYH01014968;BC047608;CH471118;L33477;L34057;NM_004061;Z16831 AAA35623;AAB48539;AAH47608;ACE86767;ACE87453;BAG37328;BAG52492;BAH11982;EAX10734;EAX10735;EAX10736;NP_004052;P55289 Hs.113684 1334571;1338782;1677776;1682646;1683493;1684317;1689720;1704616;1713963;1718249;1725095;1748557;1748875;1749653;1750043;1761383;1785714;1785762;1795536;1849063;2162375;2162918;2171540;5119187;5123780;7184436;7185013 AFM225yc5;CDH12_520;D5S2845;D5S411;D6S1498;G10554;G16049;RH118843;RH119411;RH122894;RH26926;RH46723;RH70218;RH70898;RH71451;RH83560;SGC31172;SHGC-110162;SHGC-110541;SHGC-111335;SHGC-111727;SHGC-145400;SHGC-31574;SHGC-77883;SHGC-79735;SHGC-83455 CDHB;FLJ34857 Br-cadherin;N-cadherin 2;OTTHUMP00000115709;OTTHUMP00000220833;OTTHUMP00000225066;brain cadherin;brain-cadherin;cadherin, neural type, 2;cadherin-12;neural type cadherin 2;neuronal cadherin 2 2292817 MAMTS101_H APPROVED protein-coding ENSG00000154162 1751 11081 600562 REVIEWED 1353127 CDH15 cadherin 15, type 1, M-cadherin (myotubule) This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation. [provided by RefSeq, Jul 2008] 16 16 q24.3 87765664 87789401 + 89238163 89261900 + 1580863;6480464;7240710 9545347;19012874;15489334;12634428;12477932;12052883;11136230;11058098;10861224;9615235;9168809;9030594;8059975;1840697;1427864;19851296;20198315;7806582;9219219;15923648;21906983 1013 P55291 ABBA01014160;ABBA01014161;ABBA01014162;ABBA01014163;AC009113;AK308631;AMYH01007926;AMYH01007927;AW452260;BC008951;CH471184;D83542;NG_012055;NM_004933 AAH08951;ABM84203;ABM87607;BAA12012;EAW66741;EAW66742;NP_004924;P55291 Hs.148090 1679854;1766277 RH80776;SHGC-149631 CDH14;CDH3;CDHM;MCAD;MRD3 OTTHUMP00000175347;cadherin-14;cadherin-15;cadherin-3;muscle cadherin;muscle-cadherin APPROVED protein-coding ENSG00000129910 1754 00225 114019;612580 REVIEWED 1323200 CDH16 cadherin 16, KSP-cadherin This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011] 16 16 q22.1 65499526 65510267 - 66942025 66952887 - 1580863;6480464 9721215;18343407;17895753;15886705;15670782;15489334;15023525;12975309;12851251;12477932;10828602;10409308;8125298;7615566;22028439 1014 H3BSG2;H3BSV3;I3L418;J3QLA1;O75309 ABBA01025423;AC009084;AF016272;AI733140;AK075243;AK225544;AK225552;AK298255;AK298334;AK313101;AMYH01007744;AY358911;BC027912;BI759247;CH471092;DC361453;NM_001204744;NM_001204745;NM_001204746;NM_004062 AAC34255;AAH27912;AAQ89270;ABM84733;ABW03631;BAG35925;BAG60520;BAG60583;EAW83050;EAW83051;EAW83052;NP_001191673;NP_001191674;NP_001191675;NP_004053;O75309 Hs.513660 KSP-cadherin;OTTHUMP00000174814;OTTHUMP00000174815;cadherin-16;kidney-specific cadherin APPROVED protein-coding ENSG00000166589 1755 11929 603118 REVIEWED 1316200 CDH19 cadherin 19, type 2 This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated with cancer formation. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2012] 18 18 18 q22.1 60889278 60989190 - 62322301 62422196 - 64168424 64271375 - 1580863;6480464 12975309;12477932;10995570;10861224;9615235;7566098;12118382;18184143;18364357;20358601 28513 F8VVI9;J3KTP3;J3QS15;Q9H159 AA331759;ABBA01056249;ABBA01056250;AC090393;AC091643;AF047826;AJ007607;AK304000;AK315257;AMYH01009065;AY358654;BC015877;CH471096;NM_001271028;NM_021153;NR_073130 AAC05117;AAH15877;AAQ89017;BAG64917;CAC13126;EAW63178;NP_001257957;NP_066976;Q9H159 Hs.42771 1340491;1661202;1715377;2167019;2172770;2218354 CDH19_4537;D18S857;RH120521;RH65744;SHGC-32555;STS-N26740 CDH7;CDH7L2 OTTHUMP00000163687;cadherin-19 APPROVED protein-coding ENSG00000071991 1758 04311 603016 REVIEWED 733806 CDH17 cadherin 17, LI cadherin (liver-intestine) This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] 8 8 q22.1 95208566 95289986 - 95139394 95229531 - 1580863;6480464 8153632;18552820;18353622;18342884;17828401;16951245;16344560;15701831;15302935;15279905;15178443;12824888;12477932;11413113;11337467;11193569;10191097;9615235;603017;15023525;21323956;23053896;20398667;20204409;20568120;19676131;19736353;19956853;20500517;20444732;20580775;22810971;20393816;22286087;22009269;22791949 1015 B2R778;E5RJT3;E7EN24;H0YBL0;Q12864 ABBA01037448;ABBA01037449;ABBA01037450;ABBA01037451;AI566493;AK130441;AK300638;AK301001;AK312873;AMYH01018884;AMYH01018885;AMYH01018886;AP003351;AP003478;AU098586;BC112013;BC113464;BF591263;BX483700;CH471060;CS223371;DB009107;NM_001144663;NM_004063;U07969;X83228 AAA19021;AAI12014;AAI13465;ADR83433;BAG35725;BAG62327;BAG62620;CAA58231;CAJ46925;EAW91708;NP_001138135;NP_004054;Q12864 Hs.591853 1712987;1721157;1795538;2120168;2133112;2177639;2185418;5017433;5094356 CDH17_522;D8S1071;D8S1083;G54631;G59414;RH120584;SGC35251;STS-T76997;STS-X83228 CDH16;FLJ26931;HPT-1;HPT1;MGC138218;MGC142024 HPT-1 cadherin;LI cadherin;LI-cadherin;OTTHUMP00000226595;OTTHUMP00000226596;OTTHUMP00000226597;cadherin 17;cadherin-16;cadherin-17;human intestinal peptide-associated transporter HPT-1;human peptide transporter 1;intestinal peptide-associated transporter HPT-1;liver-intestine cadherin APPROVED protein-coding ENSG00000079112 1756 04312 603017 REVIEWED 1313454 CDH18 cadherin 18, type 2 This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. [provided by RefSeq, Jul 2008] 5 5 5 p14.3 20134951 20650014 - 19508898 20017046 - 19473140 19988353 - 1580863;6480464 12477932;10861224;10207020;10191097;9030594;16344560;20180417;20379614;7806582;9219219;20800221;21906983 1016 D6RER2;D6RIH8;H0YAK3;Q13634 ABBA01054547;ABBA01054548;ABBA01054549;ABBA01054550;ABBA01054551;ABBA01054552;ABBA01054553;AC025173;AC093221;AC108128;AC113397;AC118463;AK289547;AK295087;AK308745;AMYH01014952;AMYH01014953;BC031051;BI549773;CA425592;CH471168;DA368944;NM_001167667;NM_004934;U59325 AAB02933;AAH31051;ABM84477;ABM84862;BAF82236;BAG58128;EAW68851;NP_001161139;NP_004925;Q13634 Hs.317632 1711282;1749533;1750425;1750627;1771603;1779778;1785600;1795540;2125532;2127367;2132033;2173988;5022651 AFM207ya5;CDH18_1706;D11S2921;L28235;RH65419;RH70681;SHGC-111238;SHGC-111736;SHGC-111917;SHGC-153750;SHGC-155303;SHGC-89290;WI-16265 CDH14;CDH14L;CDH24;EY-CADHERIN OTTHUMP00000115690;OTTHUMP00000220998;OTTHUMP00000220999;OTTHUMP00000221000;OTTHUMP00000221001;OTTHUMP00000221002;cadherin-14;cadherin-18;cadherin-like 24;ey-cadherin APPROVED protein-coding ENSG00000145526 1757 04314 603019 REVIEWED 734374 CDH13 cadherin 13, H-cadherin (heart) This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011] 16 16 q23.3 81218079 82387702 + 82660399 83830215 + 734735;1580863;734736;2293014;2298985;2293540;2293542;2293546;2298986;2298987;2293544;2293539;2293543;2293545;2293553;2293555;6480464 8673923;9737784;18094410;18519763;18316604;17764565;17971904;17623056;10493953;17029216;18387661;17548682;11389090;12376824;11326751 10601632;16013438;15703273;14729458;15816843;17573778;10737605;15364621;16099944;16873731;9650591;19368692;19336575;19304780;19199263;19165155;19116147;18821565;18729198;18627351;18553387;18550521;18519826;18425332;18411300;18349282;7982033;2059658;18337602;18264096;17967182;17960794;17903302;17873891;17765896;17094449;17077306;16602701;16344560;16335952;16273386;16222700;16133358;15821437;15489334;15292927;15251938;15210937;15146197;14997203;14750164;14718574;14579115;12697869;12489108;12477932;12177241;12067979;12060406;11642747;11027617;9852687;9615235;9468307;21298366;22321935;22065538;17554300;18029348;18656243;18839057;18957941;19463088;19581569;19638398;19726744;19799609;19955471;20039275;20039365;20090771;20121546;20125193;20161066;20189936;20201926;20379614;20446882;7806582;9219219;20732627;20195266;20694014;20800221;20887962;20876611;21071540;15489335;17874043;21331343;21502573;8889548;22695491;20030915;21252481;21710692;21771975;22952603;21672320;21872196;21815997;22235028;21900206;23502783;22479202;21796503;22414547;23369463;23069940;23149075;23358160;23382691;21617638;22592160;22105624 1012 B7Z3H7;B7Z590;B7Z9B1;F5H7W7;H3BQH4;H3BRL7;H3BTF2;H3BV21;P55290 AB001103;ABBA01016933;ABBA01016934;ABBA01016935;ABBA01016936;ABBA01016937;ABBA01016938;ABBA01016939;ABBA01016940;ABBA01016941;ABBA01016942;ABBA01016943;ABBA01016944;ABBA01016945;ABBA01016946;AC009028;AC009063;AC009119;AC009142;AC087189;AC092340;AC092351;AC098804;AC099506;AC106814;AC125793;AI802411;AK294277;AK295886;AK298612;AK304592;AK304733;AK307862;AMYH01007857;AMYH01007858;AMYH01007859;AMYH01007860;AMYH01007861;AMYH01007862;AMYH01007863;AMYH01007864;AU123178;BC012615;BC028624;BC030653;BG911233;BI756586;BU162665;BU627784;CA445317;CB321814;CF618908;CH471114;CK725094;CN263227;CV024366;DA561809;DA685616;DB003683;DC376661;EU190357;EU190358;L34058;NM_001220488;NM_001220489;NM_001220490;NM_001220491;NM_001220492;NM_001257;R41787;U59288 AAA35624;AAB18911;AAH28624;AAH30653;ABM82639;ABM85816;ABW97440;ABW97441;BAA32411;BAH11722;BAH12213;BAH12826;BAH14221;BAH14247;EAW95515;NP_001207417;NP_001207418;NP_001207419;NP_001207420;NP_001207421;NP_001248;P55290 Hs.654386;Hs.661776 1336667;1337228;1339247;1645306;1662748;1666902;1678081;1686756;1700346;1704654;1704684;1705934;1715585;1716651;1723271;1732762;1733510;1738501;1738611;1738671;1738715;1744775;1751115;1755997;1758741;1764341;1766719;1766729;1777005;1779934;1783432;1795240;1849796;1851522;2130048;2142674;2148665;2165670;5021890;7186138 AFMB338ZB1;CDH13_7;D16S2641;D16S2692;D16S2756;D16S2789;D16S2820;D16S2949;D16S3091;D16S402;D16S422;D16S735;D6S961;DXS7657;G17933;GDB:568474;RH103793;RH120935;RH121582;RH122324;RH65167;RH92366;SHGC-105014;SHGC-142813;SHGC-147944;SHGC-149995;SHGC-151059;SHGC-152003;SHGC-154183;SHGC-156033;SHGC-30008;SHGC-37041;SHGC-53490;SHGC-60721;SHGC-61168;SHGC-77957;SHGC-78198;SHGC-78995;ha2207 CDHH;P105 H-cadherin;P105;T-cad;T-cadherin;cadherin 13;cadherin-13;heart cadherin;heart-cadherin;truncated cadherin;truncated-cadherin APPROVED protein-coding ENSG00000140945 1753 03219 601364 REVIEWED 732591 CDH22 cadherin 22, type 2 This gene is a member of the cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical cadherins. Expressed predominantly in the brain, this putative calcium-dependent cell adhesion protein may play an important role in morphogenesis and tissue formation in neural and non-neural cells during development and maintenance of the brain and neuroendocrine organs. [provided by RefSeq, Jul 2008] 20 20 20 q13.1 41513832 41591744 - 44235783 44313741 - 44802376 44880334 - 69804;1580863;6480464 8626716 12477932;11780052;18602983;12630923;9110174;8619474;20650312;19440036;19546606;23314748 64405 A8K0L9;Q49AS4;Q9UJ99 ABBA01052674;ABBA01052675;ABBA01052676;ABBA01052677;AF035300;AK289584;AL031687;AMYH01011941;AMYH01011942;BC031232;BC039056;BC136526;BQ102264;CH471077;NM_021248 AAB88183;AAH31232;AAI36527;BAF82273;EAW75754;EAW75755;NP_067071;Q9UJ99 Hs.472861 1659970;1775835;7187616 SHGC-31223;WI-21844 C20orf25;MGC39564;dJ998H6.1 OTTHUMP00000031774;PB-cadherin;cadherin 22;cadherin-22;cadherin-like 22;ortholog of rat PB-cadherin;pituitary and brain cadherin APPROVED protein-coding ENSG00000149654 13251 13018 609920 REVIEWED 1313468 CDH20 cadherin 20, type 2 This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq, Jul 2008] 18 18 18 q21.33 55875642 55940232 + 57308755 57373345 + 59157775 59222365 + 6480464 14702039;12477932;10995570;19690890;20379614;23251661 28316 K7ESP2;Q9HBT6 ABBA01056186;ABBA01056187;ABBA01056188;AC006203;AC090409;AF217289;AK094366;AK290190;AK313809;AMYH01009045;BC101047;BC101048;BC101049;CH471096;NM_031891 AAG23739;AAI01048;AAI01049;AAI01050;BAC04340;BAF82879;BAG36545;EAW63108;NP_114097;Q9HBT6 Hs.671510 2218356 CDH20_4538 CDH7L3;Cdh7;FLJ37047 OTTHUMP00000163656;cadherin-20 APPROVED protein-coding ENSG00000101542 1760 10429 605807 REVIEWED 1353170 CDH24 cadherin 24, type 2 14 14 14 q11.2 3378962 3389437 - 22586709 22594875 - 23516270 23526747 - 1580863;6480464 12975309;12734196;12477932;16169070;7806582;9219219 64403 Q86UP0 ABBA01061304;AK025342;AK057922;AK289576;AK307746;AL132780;AL137477;AMYH01005602;AY260900;AY260901;AY358199;BC009332;BC019067;BC069190;BC094810;BC110867;BC142724;BX110381;BX248303;BX248750;CH471078;DC310509;NM_022478;NM_144985 AAH94810;AAI10868;AAI72283;AAI72574;AAP20590;AAP20591;AAQ88566;BAB15116;BAB71613;BAF82265;CAB70758;CAD62630;CAD66557;EAW66189;EAW66190;EAW66191;EAW66192;NP_071923;NP_659422;Q86UP0 Hs.155912 1847807 WI-20153 CDH11L;FLJ25193;MGC131880 OTTHUMP00000027927;OTTHUMP00000164553;OTTHUMP00000245977;cadherin-24;cadherin-like 24 APPROVED protein-coding ENSG00000139880 14265 13019 VALIDATED 731820 CDH2 cadherin 2, type 1, N-cadherin (neuronal) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. The protein functions during gastrulation and is required for establishment of left-right asymmetry. At certain central nervous system synapses, presynaptic to postsynaptic adhesion is mediated at least in part by this gene product. [provided by RefSeq, Jul 2008] 18 18 q11.2 23784933 24011189 - 25530930 25757445 - 734737;1580863;1582675;6480464;6484113;6907045 7502046;16515795 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1000 A8MWK3;C9J126;C9J8J8;C9JMH2;P19022 AA661623;ABBA01022551;ABBA01022552;AC006249;AC015933;AC110015;AI675151;AI752179;AI752180;AK302831;AMYH01008909;AW016710;BC021695;BC036470;BG197310;BX648579;CH471088;CN263272;DA225616;EF444966;JA438438;JA611023;M34064;NG_011959;NM_001792;S42303;X54315;X57548;Z27420 AAA03236;AAB22854;AAH36470;ACA05964;ACE86888;ACE87575;BAH13814;CAA38213;CAA40773;CAA81799;CCD32808;CCE25962;EAX01239;EAX01240;EAX01241;NP_001783;P19022 Hs.464829;Hs.606106 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16118;REN16119;REN16120;REN16121;REN16122;REN16123;REN16124;REN16125;REN16126;REN16127;REN16128;REN16129;REN16130;REN16131;REN16132;REN16133;REN16134;REN16135;REN16136;REN16137;REN16138;REN16139;REN16140;REN16141;REN16142;REN16143;REN16144;REN16145;REN16146;REN16147;REN16148;REN16149;REN16150;REN16151;REN16152;REN16153;REN16154;REN16155;REN16156;REN16157;REN16158;REN16159;REN16160;REN16161;RH120696;RH121160;RH121194;RH121795;RH123058;RH123269;RH16571;RH27115;SHGC-33512;SHGC-79153;stSG624241;stSG624242;stSG624243;stSG624244;stSG624245;stSG624246;stSG624247;stSG624248;stSG624249;stSG624250;stSG624251;stSG624252;stSG624253;stSG624254;stSG624255;stSG624256;stSG624259;stSG624260;stSG624261;stSG624264;stSG624265;stSG624266;stSG624267;stSG624268;stSG624269;stSG624270;stSG624272;stSG624273;stSG624275;stSG624276;stSG624277;stSG624278;stSG624279;stSG624280;stSG624281;stSG624283;stSG624284;stSG624285;stSG624288;stSG624289;stSG624290;stSG624291;stSG624292;stSG624293;stSG624294;stSG624295;stSG624296;stSG624297;stSG624298;stSG624299;stSG624300;stSG624301;stSG624302;stSG624303;stSG624304;stSG624305;stSG624306;stSG624307;stSG624308;stSG624309;stSG624310;stSG624312;stSG624313;stSG624315;stSG624316;stSG624317;stSG624318;stSG624320;stSG624321;stSG624322;stSG624324;stSG624325;stSG624326;stSG624327;stSG624328;stSG624329;stSG624330;stSG624331;stSG624332;stSG624333;stSG624335;stSG624336;stSG624337;stSG624338;stSG624339;stSG624340;stSG624341;stSG624342;stSG624343;stSG624344;stSG624345;stSG624346;stSG624347;stSG624348;stSG624349;stSG624351;stSG624352;stSG624354;stSG624355;stSG624357;stSG624358;stSG624359;stSG624360;stSG624361;stSG624362;stSG624363;stSG624365;stSG624366;stSG624368;stSG624369;stSG624370;stSG624371;stSG624372;stSG624373;stSG624374;stSG624375;stSG624376;stSG624377;stSG624378;stSG624379;stSG624380;stSG624381;stSG624382;stSG624383;stSG624384;stSG624385;stSG624386;stSG624387;stSG624388;stSG624389;stSG624390;stSG624391;stSG624392;stSG624394;stSG624395;stSG624396;stSG624397;stSG624398;stSG624399;stSG624400;stSG624401;stSG624402;stSG624403;stSG624404;stSG624405;stSG624406;stSG624408;stSG624409;stSG624410;stSG624411;stSG624412;stSG624413;stSG624414;stSG624415;stSG624416;stSG624417;stSG624419;stSG624420;stSG624421;stSG624422;stSG624424 CD325;CDHN;CDw325;NCAD N-cadherin 1;OTTHUMP00000066304;OTTHUMP00000067378;cadherin 2;cadherin 2, N-cadherin (neuronal);cadherin-2;calcium-dependent adhesion protein, neuronal;neural cadherin;neural-cadherin APPROVED protein-coding ENSG00000170558 1759 00226 114020 REVIEWED 1323191 CDH26 cadherin 26 Cadherins are a family of adhesion molecules that mediate Ca2+-dependent cell-cell adhesion in all solid tissues and modulate a wide variety of processes, including cell polarization and migration. Cadherin domains occur as repeats in the extracellular region and are thought to contribute to the sorting of heterogeneous cell types and the maintenance of orderly structures such as epithelium. This gene encodes a cadherin domain-containing protein whose specific function has not yet been determined. Alternative splicing occurs at this locus and two transcript variants, encoding distinct proteins, have been identified. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 55274111 55328792 + 57966877 58021563 + 58533471 58588168 + 6480464 14702039;12477932;11780052;10835267;16344560;19824886;20379614 60437 H7BY79;Q8IXH8;Q9NTY2 AA454986;ABBA01005956;AF169690;AK055202;AK074477;AL109928;AMYH01012029;BC062570;BC136306;BC143931;CH471077;DB218314;NM_021810;NM_177980 AAF89687;AAH62570;AAI36307;BAB85093;BAG51485;EAW75417;EAW75418;EAW75419;EAW75420;EAW75421;EAW75422;EAW75423;NP_068582;NP_817089;Q8IXH8 Hs.729046 1670301;1673022;1691246;1720757;2182222;2218358 CDH26_4539;D20S759;G59352;RH94129;SHGC-54233;Z94635 VR20 OTTHUMP00000031432;OTTHUMP00000031433;OTTHUMP00000174474;OTTHUMP00000174475;cadherin-like 26;cadherin-like protein 26;cadherin-like protein VR20 APPROVED protein-coding ENSG00000124215 15902 13020 REVIEWED 733851 CDH23 cadherin-related 23 This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013] 10 10 q22.1 72826697 73245710 + 73156691 73575704 + 737781;704405;1580863;704404;6480464;7240710 12910270 12522556;12485990;11138009;16679490;19297620;19268276;18484607;18429043;18368581;18348277;18323324;18273900;17850630;17672918;16598924;16550584;15882574;15829536;15660226;15537665;14702039;12975309;12588794;12477932;12407180;12075507;11857743;11597768;11386759;11347906;11138008;11090341;8894709;8889548;8817348;2706105;16344560;16385451;18957941;19683999;20379614;20801516;20498078;17234811;20844544;22879593;21940737;20301442;20301607;22424883;22413011;20467438;22951725;19756182;23451239;23641064;22581638;22899989 64072 A5D6V9;B1AVV0;G3XCN8;G8JLI8;Q5QGS1;Q5QGS5;Q5QGS6;Q6P152;Q8N5B3;Q9H251;R4GN22;R4GN92 AB053445;AB058715;ABBA01019639;AC012469;AF312024;AK074160;AK093818;AL122081;AL359183;AL731541;AL772287;AMYH01002816;AMYH01002817;AY010111;AY358617;AY563161;AY563162;AY563165;AY563166;BC011570;BC032581;BC065284;BC108254;BC136976;BC136977;BC139903;BM673126;BU728250;CH471083;DB333699;NG_008835;NM_001171930;NM_001171931;NM_001171932;NM_001171933;NM_001171934;NM_001171935;NM_001171936;NM_022124;NM_052836 AAG27034;AAG48303;AAH11570;AAH32581;AAH65284;AAI08255;AAI36977;AAI36978;AAI39904;AAQ88980;AAT72161;AAT72162;AAT72165;AAT72166;ADZ15527;BAB47441;BAB61902;BAB84986;BAC04231;CAB59256;EAW54426;EAW54427;EAW54428;EAW54429;EAW54430;EAW54431;EAW54432;NP_001165401;NP_001165402;NP_001165403;NP_001165404;NP_001165405;NP_001165406;NP_001165407;NP_071407;NP_443068;Q9H251 Hs.656032 1335402;1337296;1342220;1342232;1659716;1706220;1709402;1726707;1730998;1731409;1759431;1767001;1782082;2127052;2132063;2132065;2138594;2144039;2144317;2160811;2164609;5022578;5037552;5094838;5105871;5127925;7188002;7189445;7189447 CDH23;D10S1650;D10S1694;D10S2338;D10S338;D10S412;D10S584;D10S606;D1S1423;D8S2279;G62740;GDB:313461;RH44693;RH45898;RH48031;SGC38181;SHGC-151188;SHGC-151195;SHGC-152305;SHGC-152620;SHGC-154025;SHGC-80642;SHGC-81728;STS-N39237;STS-R80211;STS-W72919 CDHR23;DFNB12;DKFZp434P2350;FLJ00233;FLJ36499;KIAA1774;KIAA1812;MGC102761;USH1D OTTHUMP00000020837;OTTHUMP00000020838;cadherin related 23;cadherin-23;cadherin-like 23;cadherin-related family member 23;otocadherin APPROVED protein-coding ENSG00000107736 13733 05699 601067;601386;605516 REVIEWED 1353368 CDH3 cadherin 3, type 1, P-cadherin (placental) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a six-cadherin cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene have been associated with congential hypotrichosis with juvenile macular dystrophy. [provided by RefSeq, Jul 2008] 16 16 q22.1 67236277 67290443 + 68678151 68732957 + 1600806;1600801;1580863;6480464;7240710 15771627;15805154 19076794;19043399;18927288;18829530;18811693;18637128;18637117;18330089;18329483;18230143;18199584;18074863;17342797;16115928;16007225;15967043;15817166;15489334;15375751;15146197;12919105;12876286;12800191;12477932;12445216;12417987;12112590;12021924;11909859;11891861;11889072;11544476;11401672;11106563;11066045;10655458;10381631;9815605;9615235;9359492;9250159;8660921;8227214;8125298;8074995;8056851;7538474;7534041;2793940;2702654;1924379;1427864;10910767;20338046;20203473;10460003;19469909;19528483;19846933;19901964;19915572;20118984;20204300;7806582;9219219;20844743;20860798;20385540;20473917;19882246;20621328;20668551;22696062;20852590;23143461;20140736;23334344;21317933;21703417;22348569;19850743;21906983;23180380;22209340;22389315;22531681;21781454 1001 J3KRQ1;J3KTE9;J3QKW6;J3QL41;J3QL75;J3QR34;J3QR60;P22223 ABBA01025495;ABBA01025496;ABBA01025497;ABBA01025498;ABBA01025499;AC099314;AC126773;AI149268;AK225396;AK296968;AK312554;AMYH01007758;AMYH01007759;BC014462;BC041846;BQ945506;BU543746;CA489015;CA489338;CA489357;CH471092;CN365479;CS174724;NG_009096;NM_001793;X63629;X95824 AAH14462;AAH41846;ACE86889;ACE87576;BAG35451;BAG59512;CAA45177;CAA65093;CAJ34555;EAW83237;EAW83238;EAW83239;NP_001784;P22223 Hs.191842 1762687;1771708;2130233;2217140 CDH3_526;D16S3206;SHGC-146481;SHGC-61141 CDHP;HJMD;PCAD OTTHUMP00000174867;cadherin-3;calcium-dependent adhesion protein, placental APPROVED protein-coding ENSG00000062038 1762 00227 114021;225280;601553;612580 REVIEWED 1316530 CDH5 cadherin 5, type 2 (vascular endothelium) This gene is a classical cadherin from the cadherin superfamily and is located in a six-cadherin cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Functioning as a classic cadherin by imparting to cells the ability to adhere in a homophilic manner, the protein may play an important role in endothelial cell biology through control of the cohesion and organization of the intercellular junctions. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] 16 16 q22.1 64958064 64996190 + 66400525 66438689 + 1598391;1580863;6480464;6484113 14695457 12219009;1522121;16027153;15980433;15897346;15861137;15735710;15731052;15601837;15572031;15374707;15220112;14699141;14678493;12740216;12658549;12626512;12595527;12584244;12584200;12477932;12426320;12413882;12393634;12243749;16115630;12234928;12088286;9219219;19420236;19356953;19345098;19212436;19059243;18990449;18979298;18804209;18641366;18639387;18628953;18420943;18402976;18337748;18316602;18287330;18272754;18195090;18180305;18163230;17761936;17638851;17194459;17159998;17060906;17057644;16909109;16893970;16481735;16335952;16322481;12130501;12095140;12010652;12003790;11950930;11950700;11937138;11900554;11855855;11777950;11490021;10861224;10681592;10428027;10063232;9739078;9615235;9378757;7627717;2059658;9434630;15723073;22720111;22213015;19633358;19735546;19760520;19996314;20048167;20123970;20167365;20224040;7806582;19913121;20470859;20628086;20926024;20810734;20732872;19915944;20032304;20693433;20463083;20589320;20386594;21168935;20446815;20711993;21190990;23118492;22865455;21269615;21439626;23079531;23465821;22975327;22623531;22064597;22922959;21190742;22040113;22133903;22391038;22734943;23376478;23074279;23168683;22562824;22398721;22648953;22833667;23159740 1003 B4DTR2;H3BPG1;H3BQ82;H3BR11;H3BR64;I3L1J2;P33151 AB035304;AB209908;ABBA01025403;ABBA01025404;ABBA01025405;AC132186;AK300299;AK300322;AK300461;AMYH01007737;BC096363;BC096364;BC096365;BC117520;CH471092;DC381809;NM_001795;U84722;X59796;X79981 AAB41796;AAH96363;AAH96364;AAH96365;AAI17521;BAA87418;BAD93145;BAG62052;BAG62074;BAG62180;CAA42468;CAA56306;EAW83009;NP_001786;P33151 Hs.76206 1795544;2130590;2150587 CDH5_1;D16S3319;SHGC-60813 7B4;CD144;FLJ17376 7B4 antigen;OTTHUMP00000174777;VE-cadherin;cadherin 5, type 2, VE-cadherin (vascular epithelium);cadherin-5;cd144 antigen;endothelial-specific cadherin;vascular endothelial cadherin APPROVED protein-coding ENSG00000179776 1764 03075 601120 REVIEWED 1315712 CDH7 cadherin 7, type 2 This gene is a type II classical cadherin from the cadherin superfamily. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types and the maintenance of orderly structures. Alternative splicing in the 5' UTR of this gene yields variant transcripts encoding the same protein. [provided by RefSeq, Jul 2008] 18 18 18 q22.1 60138894 60269263 + 61568468 61699155 + 63417488 63548175 + 1580863;6480464 15273735;12477932;10995570;10861224;9615235;19200257;20379614;7806582;9219219;21378379;21988832;23247143 1005 F5H5X9;Q9ULB5 AB035301;ABBA01056243;ABBA01056244;ABBA01056245;AC023394;AC090358;AJ007611;AMYH01009062;BC036786;CH471096;NM_004361;NM_033646 AAH36786;BAA87415;CAC13127;EAW63173;EAW63174;EAW63175;NP_004352;NP_387450;Q9ULB5 Hs.657522 1707386;1797380;2144325;5022578 CDH7_2588;D1S1423;RH17611;SHGC-84477 CDH7L1 OTTHUMP00000163685;cadherin-7 APPROVED protein-coding ENSG00000081138 1766 12049 605806 REVIEWED 1343938 CDH4 cadherin 4, type 1, R-cadherin (retinal) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 20 20 q13.3 59260952 59945694 + 59827482 60515673 + 1580863;6480464 2059658;17903297;16786001;15548679;15489334;15143071;14702039;12477932;11780052;10799302;10760957;10662782;10516427;10191097;7982033;798233;20834067;21658281;18029348;19724895;19851296;20198315;20379614;7806582;9219219;20932310;22820501;21665361;8889548;22219182;20228063;20467438;23251661;23279374 1002 P55283 ABBA01040115;ABBA01040116;ABBA01040117;ABBA01040118;ABBA01040119;ABBA01040120;ABBA01040121;ABBA01040122;ABBA01040123;ABBA01040124;ABBA01040125;ABBA01040126;ABBA01040127;ABBA01040128;ABBA01040129;ABBA01040130;ABBA01040131;ABBA01040132;AI422259;AK025855;AK091496;AK092092;AK124724;AK308345;AK315192;AL079336;AL109911;AL160412;AL162457;AL365229;AL365401;AL391316;AL450463;AL834206;AMYH01012033;AMYH01012034;AMYH01012035;AMYH01012036;AMYH01012037;AMYH01012038;BC101651;BC112150;BM664894;BX640515;CH471077;DC330816;L34059;NM_001252338;NM_001252339;NM_001794 AAA35627;AAI01652;AAI12151;BAB15259;BAC03677;BAG37632;BAG54080;CAD38893;EAW75408;EAW75409;EAW75410;NP_001239267;NP_001239268;NP_001785;P55283 Hs.473231 1340283;1661894;1662177;1662424;1675782;1707994;1743321;1752103;1757933;1758363;1758513;1763727;1765549;1774266;1774819;1848071;2144656;2161395;2171818;2185591 D13S707;D1S513;G13391;GDB:314889;RH65523;RH76588;SHGC-106055;SHGC-146884;SHGC-147401;SHGC-148162;SHGC-148547;SHGC-149017;SHGC-84661;Z94317;Z94350;Z94484;Z94494;Z94541;Z94684;Z94692 CAD4;FLJ22202;FLJ40547;MGC126700;MGC138355;RCAD OTTHUMP00000031444;R-CAD;R-cadherin;cadherin 4, type 1, preproprotein;cadherin-4;retinal cadherin APPROVED protein-coding ENSG00000179242 1763 04304 603006 REVIEWED 735712 CDH6 cadherin 6, type 2, K-cadherin (fetal kidney) This gene encodes a member of the cadherin superfamily. Cadherins are membrane glycoproteins that mediate homophilic cell-cell adhesion and play critical roles in cell differentiation and morphogenesis. The encoded protein is a type II cadherin and may play a role in kidney development as well as endometrium and placenta formation. Decreased expression of this gene may be associated with tumor growth and metastasis. [provided by RefSeq, May 2011] 5 5 p13.3 31229553 31360994 + 31193762 31329253 + 1580863;6480464 7743525;18029348;16344560;16335952;15489334;12477932;10861224;10207020;10191097;9615235;9520111;9506208;9205085;2059658;20634887;20709820;7806582;9219219;10940709;14702039;22001757 1004 D6RF86;P55285 ABBA01066716;AC091898;AC113386;AK024238;AK291290;AL049227;AMYH01014992;AU130185;BC000019;BC013907;CH471118;D31784;DC353791;NM_004932 AAH00019;BAA06562;BAF83979;EAX10763;EAX10764;EAX10765;NP_004923;P55285 Hs.124776;Hs.171054 1337815;1683118;1794306;1795546;2126867;2147944;2157968;2180692 CDH6_424;D5S108;D5S599;PMC311006P2;RH48923;RH98465;SGC35576;SHGC-11631 CAD6;DKFZp564N1116;FLJ14176;KCAD K-cadherin;OTTHUMP00000115839;OTTHUMP00000220908;cadherin 6, K-cadherin (fetal kidney);cadherin, fetal kidney;cadherin-6;kidney cadherin APPROVED protein-coding ENSG00000113361 1765 04305 603007 REVIEWED 735375 CDH8 cadherin 8, type 2 This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 46191618 46573463 - 60244736 60627537 - 61685915 62070739 - 1580863;6480464 2059658;15489334;14702039;12477932;12209956;10861224;9615235;9521872;7982033;20379614;7806582;9219219;21602797;20972252;21389276;22359512;23144319 1006 J3KRI5;J3KT81;J3KTG8;J3QKW5;J3QLE6;P55286 AB035305;AB074170;ABBA01025353;ABBA01025354;ABBA01025355;AC012174;AC040161;AC092124;AC092125;AC092129;AK124734;AMYH01007725;AMYH01007726;BC113416;CH471092;L34060;NM_001796;R34732;R49605 AAA35628;AAI13417;ADR83258;BAA87419;BAE45735;BAG54083;EAW82994;EAW82995;NP_001787;P55286 Hs.368322 1664075;1708174;1714675;1719277;1731839;1732141;1738763;1738847;1769013;1775060;1849148;1856637;2217142 AFM212XE11;CDH8_1919;D16S2849;D16S2896;D16S2997;D16S3337;D16S389;D16S533;RH120002;RH123361;SHGC-32357;SHGC-60754;SHGC-79337 Nbla04261 OTTHUMP00000174769;cadherin 8;cadherin-8;putative protein product of Nbla04261 APPROVED protein-coding 1767 04306 603008 VALIDATED 1606556 CDHR2 cadherin-related family member 2 This gene is a member of the protocadherin family, which represents a subset of the larger cadherin superfamily. The members of the protocadherin family encode non-classical cadherins that function as calcium-dependent cell-cell adhesion molecules. This protocadherin represents a new candidate for tumor suppression. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jan 2010] 5 5 5 q35.2 172478089 172531637 - 175908971 175955375 + 175969512 176022769 + 6480464 12117771;19383367;15534908;14702039;12477932;11082270;8889549;22318606;8125298;15342556;22118674 54825 A1L3U4;D6REJ3;Q9BYE9 AA130780;AB047004;ABBA01033489;ABBA01033490;ABBA01033491;ABBA01033492;AC091934;AK000131;AK000390;AK225217;AK315055;AMYH01015862;BC130282;BP271197;BX478954;CH471195;NM_001171976;NM_017675 AAI30283;BAA90962;BAB40777;BAG37531;EAW85066;EAW85067;EAW85068;EAW85069;NP_001165447;NP_060145;Q9BYE9 Hs.4205 1674444;1776086;2168097;2171209;2185877;5014055 D1S3697;RH35970;RH48053;RH77998;SGC33786;SHGC-76867 FLJ20124;FLJ20383;MGC163154;PC-LKC;PCDH24;PCLKC OTTHUMP00000223383;OTTHUMP00000223384;OTTHUMP00000223385;cadherin-related family member 2;protocadherin 24;protocadherin-24 APPROVED protein-coding ENSG00000074276 18231 15103 REVIEWED 1354185 CDH9 cadherin 9, type 2 (T1-cadherin) This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. [provided by RefSeq, Jul 2008] 5 5 5 p14 26765945 26923932 - 26916466 27074446 - 26880709 27038689 - 1580863;6480464 19404256;16344560;15489334;12477932;10861224;10835267;2059658;17668045;7806582;9219219;21079607;22846907;19322201;22589738;22872573;23279374 1007 D6RBT9;E7EPN0;Q9ULB4 AB035302;ABBA01066658;ABBA01066659;ABBA01066660;ABBA01066661;ABBA01066662;ABBA01066663;AC010470;AC022450;AK294183;AK307779;AK308697;AMYH01014980;BC107594;BC109384;BC113745;CH471118;DA165253;NM_016279 AAI07595;AAI09385;AAI13746;BAA87416;BAG57501;EAX10746;EAX10747;EAX10748;NP_057363;Q9ULB4 Hs.272212 1724087;1795548;2151842 CDH9_3;RH118785;WI-14975 MGC125386 OTTHUMP00000115836;T1-cadherin;cadherin-9 APPROVED protein-coding ENSG00000113100 1768 13021 609974 REVIEWED 737398 CDHR1 cadherin-related family member 1 This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013] 10 10 10 q23.1 79949917 79974886 + 85944497 85967102 + 85954412 85979377 + 633048;1580863;6480464;7240710 11597768 21697133;16288196;12477932;16344560;16385451;20087419;20805371;20498078;21875946;23233793;18654668;23044944;8889548 92211 B3KWC7;E7EN47;F1T0L2;Q96JP9 AA576346;AB053448;AB593154;AB593155;ABBA01003757;ABBA01003758;AC022389;AK124752;AL080188;AMYH01002890;AW129079;BC038799;BM674749;CH471142;DA373888;DA957169;NG_028034;NM_001171971;NM_033100 AAH38799;BAB61905;BAG54089;BAJ84086;BAJ84087;CAH10732;EAW80361;EAW80362;EAW80363;EAW80364;NP_001165442;NP_149091;Q96JP9 Hs.137556;Hs.660813 1711400;2173622 G42184;RH15739 CORD15;DKFZp434A132;KIAA1775;PCDH21;PRCAD;RP65 MT-protocadherin;OTTHUMP00000019993;OTTHUMP00000019994;cadherin-related family member 1;photoreceptor cadherin;protocadherin-21 APPROVED protein-coding ENSG00000148600 14550 15106 609502;613660 REVIEWED 1603532 CDHR3 cadherin-related family member 3 7 7 7 q22.3 100409194 100482416 + 105390921 105461454 + 105603657 105676877 + 6480464 18029348;14702039;12690205;12477932;20833655;9847074 222256 C9JNJ3;E7EQG5;E9PEI5;F5H0Z2;F8WF00;H7C548;H7C555;Q6ZTQ4 AACC02000004;ABBA01057932;AC004836;AC004964;AC005099;AK074414;AK125261;AK126338;AK131293;AK304118;AK304352;AMYH01017820;AMYH01017821;BC111696;BC111738;CH236947;CH471070;DC416640;NM_152750 AAI11697;AAI11739;BAB85073;BAC86529;BAG54762;BAH14108;BAH14166;EAL24403;EAW83375;EAW83376;EAW83377;EAW83378;NP_689963;Q6ZTQ4 Hs.150120 1336364;1776875;2115808;2137791;2139414;2170194;2181377;5014029;5015861;5020946;5037552;5125670;7185938;7186747 D10S16;D13S1639;D7S2305;D7S2390;D7S2453;D7S2840;D8S2279;GDB:6028542;L17971;RH16394;SHGC-30998;SHGC-35222 CDH28;FLJ23834;FLJ43271;MGC133292;MGC133293 OTTHUMP00000212237;OTTHUMP00000212239;cadherin-like protein 28;cadherin-related family member 3 APPROVED protein-coding ENSG00000128536 26308 08042 VALIDATED 1605676 CDHR5 cadherin-related family member 5 This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010] 11 11 11 p15.5 681712 690214 - 606575 615007 - 616565 625067 - 6480464 16344560;16335952;14702039;12975309;12589428;12477932;12167596;11031102;10817752;10801787;19913121;20628086;21315419;21839066;22202456 53841 B4DV98;E9PKR2;E9PLX6;E9PMY2;E9PPW2;Q58EZ6;Q9NXI9 AA975851;ABBA01015197;AF258674;AF258675;AF258676;AF258677;AF258678;AF258679;AF276242;AF301909;AI640262;AK000226;AK000384;AK025012;AK300991;AK308040;AK309157;AMYH01003289;AP006284;AW137262;AY358368;BC038405;BC107063;CH471158;DA373160;NM_001171968;NM_021924;NM_031264 AAG16730;AAG16731;AAG16732;AAG16733;AAG30821;AAG33495;AAH38405;AAQ88734;BAA91021;BAA91130;BAB15052;BAG62610;EAX02361;EAX02362;EAX02363;EAX02364;EAX02365;EAX02366;EAX02367;NP_001165439;NP_068743;NP_112554;Q9HBB8 Hs.165619 1683759 RH99331 FLJ20219;MU-PCDH;MUCDHL;MUPCDH OTTHUMP00000162884;OTTHUMP00000162885;cadherin-related family member 5;mu-protocadherin;mucin and cadherin-like protein APPROVED protein-coding ENSG00000099834 7521 06021 606839 REVIEWED 1605792 CDHR4 cadherin-related family member 4 3 3 3 p21.31 49793740 49802731 - 49810669 49812272 - 49828165 49837254 - 6480464 15489334;12975309;12477932;20307617 389118 A6H8M9;E9PFE8;H7C4N6;H7C5B2 ABBA01024574;AC139451;AMYH01013162;AY358221;BC132756;BC146674;NM_001007540 A6H8M9;AAI32757;AAI46675;AAQ88588;NP_001007541 Hs.363312 5037552 D8S2279 CDH29;MGC164982;PRO34300 Cadherin-like protein UNQ9392/PRO34300;OTTHUMP00000212679;VLLR9392;cadherin-like 29;cadherin-like protein 29;cadherin-related family member 4 APPROVED protein-coding ENSG00000187492 34527 17378 PROVISIONAL 7244483 CDIPT-AS1 CDIPT antisense RNA 1 (head to head) 12477932 440356 ABBA01013116;AC120114;AI269516;AK131031;AMYH01007495;BC070380;BC119017;BC119809;BM006535;NR_015396;NR_024370 Hs.448823 miscrna ENSG00000214725 48609 VALIDATED 1321732 CDIP1 cell death-inducing p53 target 1 16 16 16 p13.3 4769569 4797708 - 4500677 4528817 - 4560676 4588816 - 6480464 17599062;10570909;16344560;15489334;12477932;11230166;20379614;16751776;21139048;21890473;22549949 29965 H3BRY7;H3BTN7;H3BTX4;K7EK15;K7ELR4;K7EM67;K7ENR4;K7ESA8;Q9H305 ABBA01026777;AC007606;AC023830;AF131218;AF195661;AK292036;AK294257;AK302297;AK307067;AK308532;AK311295;AL136698;AL833853;AMYH01007104;BC002882;BC007604;CH471112;CR533446;DA055704;DQ167023;NM_001199054;NM_001199055;NM_001199056;NM_013399 AAF26619;AAG35583;AAH02882;AAH07604;AAZ94626;ADZ15492;BAF84725;BAG57552;BAG63637;CAB66633;CAD38712;CAG38477;EAW85291;EAW85292;EAW85293;EAW85294;EAW85295;EAW85296;EAW85297;EAW85298;NP_001185983;NP_001185984;NP_001185985;NP_037531;Q9H305 Hs.654653 1647708;1666612;1671637;1731385;1737547;2156994;2167465 D16S2655;D16S2980;D16S453;SHGC-60696;SHGC-60771;SHGC-60849;SHGC-61112 C16orf5;CDIP;I1;LITAFL LITAF-like protein;cell death inducing protein;cell death involved p53-target;cell death-inducing p53-target protein 1;cell death-inducing protein;lipopolysaccharide-induced tumor necrosis factor-alpha-like protein;transmembrane protein I1 APPROVED protein-coding ENSG00000089486 13234 12676 610503 VALIDATED 736670 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase Phosphatidylinositol breakdown products are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 72921652 72926552 + 29777179 29782079 - 29869678 29874578 - 6480464;6907045 9407135;16312203;15489334;14702039;12477932;9370331;8125298;8110188;19913121;20628086;20426864;21832049;21900206;21903422;21139048;21906983 10423 A8K3L7;B3KY94;H3BTJ7;H3BTV1;H3BUR9;O14735 ABBA01013116;AC120114;AF014807;AK094468;AK097691;AK131227;AK131349;AK222676;AK290632;AK300805;AK310988;AK314544;AL050383;AMYH01007495;BC001444;BI490060;BT007301;CH471238;CR542016;NM_006319 AAB94860;AAH01444;AAP35965;BAD18505;BAD96396;BAF83321;BAG52872;BAG53514;BAG54756;BAG62462;CAG46813;EAW79976;EAW79977;EAW79978;NP_006310;O14735 Hs.731127 1666136;1678811;1686444 D16S3310;RH64982;RH98729 MGC1328;PIS;PIS1 CDP-diacylglycerol--inositol 3-phosphatidyltransferase;OTTHUMP00000162985;PI synthase;PtdIns synthase;phosphatidylinositol synthase APPROVED protein-coding ENSG00000103502 1769 12063 605893 VALIDATED 1312526 CDK10 cyclin-dependent kinase 10 The protein encoded by this gene belongs to the CDK subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle progression. This kinase has been shown to play a role in cellular proliferation and its function is limited to cell cycle G2-M phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 16 16 q24 88280577 88290263 + 89753076 89762772 + 1580863;6480464 22315970;8084611;18242510;8208557;17192257;16381901;16344560;15489336;15489334;12477932;11313931;11076863;11006117;10036189;8889548;7882308;7664269;18483556;19578364;19846932;16226712;22326270;21983787;22209942;22158035;21890473;21906983;22632162 8558 B7Z537;D6RA59;D6REZ2;D6RHH3;F8W872;H3BSN8;H3BT74;Q15131;Q9UHL7 AB209829;ABBA01014136;AC010538;AF153430;AJ010341;AK075036;AK131531;AK290485;AK292351;AK295397;AK296631;AK298386;AK312016;AMYH01007938;BC017342;BC025301;BC032704;BC093028;BM677573;BM720563;BQ184950;CH471184;CX867290;DB118903;DC362478;L33264;NM_001098533;NM_001160367;NM_052987;NM_052988;NR_027702;NR_027703;X78342 AAA60092;AAF18371;AAH17342;AAH25301;ACE86898;ACE87585;BAD93066;BAF83174;BAF85040;BAG34954;BAG52055;BAG54773;BAH12055;BAH12406;BAH12773;CAA55137;CAB37619;CAL37781;CAL38055;CAL38082;EAW66700;EAW66701;EAW66702;EAW66703;EAW66704;EAW66705;EAW66706;EAW66707;EAW66708;EAW66709;EAW66710;EAW66711;NP_001092003;NP_001153839;NP_443713;NP_443714;Q15131 Hs.699177 1667703;1698938;1730165;2191641;5014051;5022200;5022578;5037552 D18S77E;D1S1423;D8S2278;D8S2279;L18426;MARC_3459-3460:996679104:1;RH103038;SHGC-61182 PISSLRE CDC2-related protein kinase;OTTHUMP00000175352;OTTHUMP00000217847;cell division protein kinase 10;cyclin-dependent kinase (CDC2-like) 10;cyclin-dependent kinase 10;cyclin-dependent kinase related protein;serine/threonine protein kinase PISSLRE;serine/threonine-protein kinase PISSLRE APPROVED protein-coding ENSG00000185324 1770 603464 REVIEWED 1604655 CDK11A cyclin-dependent kinase 11A This gene encodes a member of the p34Cdc2 protein kinase family. p34Cdc2 kinase family members are known to be essential for eukaryotic cell cycle control. This gene is in close proximity to CDC2L1, a nearly identical gene in the same chromosomal region. The gene loci including this gene, CDC2L1, as well as metalloprotease MMP21/22, consist of two identical, tandemly linked genomic regions, which are thought to be a part of the larger region that has been duplicated. This gene and CDC2L1 were shown to be deleted or altered frequently in neuroblastoma with amplified MYCN genes. The protein kinase encoded by this gene could be cleaved by caspases and was demonstrated to play roles in cell apoptosis. Many transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of only two have been determined so far. [provided by RefSeq, Jul 2008] 1 1 p36.33 1560463 1580350 - 1634169 1655791 - 6480464 12501247;15231747;9750192;1639388;10882096;8195233;19245811;19122208;17606997;17177267;17081983;16710414;16462731;16039607;16004605;15963510;15883043;15330758;15302935;14511641;12624090;12477932;11980906;11683997;11506180;11181995;9740677;9632733;9580558;9115219;7920654;7777541;2217177;1774066;14623875;12446680;19520772;19884882;20508983;18029348;16055720;21693764;21906983;18729074;22505724 728642 E7ESP2;E9PFJ2;G8JLH1;J3KS35;Q4VBY6;Q5QPQ9;Q5QPR3;Q5QPR4;Q9UP54 ABBA01016066;AF067518;AF067519;AF067520;AF067521;AF067522;AF067523;AF067524;AF067526;AF067527;AF067528;AF067529;AF080694;AF080695;AF080697;AF092426;AL031282;AL043340;AL691432;AMYH01000150;AMYH01000151;AMYH01000152;AMYH01000153;AMYH01000154;AMYH01000155;AMYH01000156;AMYH01000157;BC014464;BC028187;BC054019;BC062579;BC094827;BC104661;BC110905;CH471183;DC388505;NG_029414;NM_024011;NM_033529;U04819;U07704;U07705 AAA19585;AAA19594;AAA19595;AAC72083;AAC72084;AAC72085;AAC72086;AAC72087;AAC72088;AAC72089;AAC72091;AAC72092;AAC72093;AAC72094;AAC95297;AAC95298;AAC95299;AAC95300;AAC95301;AAC95302;AAC95303;AAC95304;AAH14464;AAH28187;AAH62579;AAH94827;AAI04662;AAI10906;EAW56161;EAW56162;EAW56163;EAW56164;EAW56165;EAW56166;EAW56167;EAW56168;NP_076916;NP_277071;Q9UQ88 Hs.651228;Hs.709182 1658802;1662115;1668766;2164690;5109281 A002R14;AFMB067YH1;D1S1425;SHGC-34744;SHGC-74110 CDC2L2;CDC2L3;CDK11-p110;CDK11-p46;CDK11-p58;MGC131975;PITSLRE;p58GTA OTTHUMP00000000760;OTTHUMP00000000762;OTTHUMP00000000763;OTTHUMP00000000764;OTTHUMP00000000767;OTTHUMP00000000768;PITSLRE B;PITSLRE protein kinase beta;PITSLRE serine/threonine-protein kinase CDC2L2;cell division cycle 2-like 2 (PITSLRE proteins);cell division cycle 2-like protein kinase 2;cell division protein kinase 11A;cyclin-dependent kinase 11A;galactosyltransferase-associated protein kinase p58/GTA APPROVED protein-coding ENSG00000008128 1730 116951 REVIEWED 733880 CDK12 cyclin-dependent kinase 12 17 17 17 q12 34278706 34351410 + 34871265 34944326 + 37617739 37690800 + 6480464 11683387;19124506;17192257;17081983;16964243;16344560;15302935;15231748;12477932;12168954;10048485;18029348;19651820;19884882;20734064;20952539;12841360;16055720;16159877;16226712;22988298;16051665;22012619;22939629;22990118;19596686;21139048;21693764;22623531;19322201;21963094;21988832;22547058 51755 H0YLT2;J3QSD7;Q9NYV4 AB020711;ABBA01031862;ABBA01031863;ABBA01031864;ABBA01031865;ABBA01031866;AC009283;AF227198;AK302645;AMYH01008375;BC140854;BC150265;BM557102;CB049262;CH471152;DA026139;NM_015083;NM_016507 AAF36401;AAI40855;AAI50266;BAA74927;BAG63886;EAW60576;EAW60577;NP_055898;NP_057591;Q9NYV4 Hs.416108 1688068;1693760;1698752;2109193;2162523;2184160;5096057 CRK7_9758;L18221;RH102939;RH45437;RH70045;RH92543;SHGC-58832 CRK7;CRKR;CRKRS;KIAA0904;hCDK12 CDC2-related protein kinase 7;Cdc2-related kinase, arginine/serine-rich;OTTHUMP00000164282;cell division cycle 2-related protein kinase 7;cell division protein kinase 12;cyclin-dependent kinase 12;protein kinase for splicing component APPROVED protein-coding ENSG00000167258 24224 10849 VALIDATED 1604656 CDK11B cyclin-dependent kinase 11B This gene encodes a member of the p34Cdc2 protein kinase family. p34Cdc2 kinase family members are known to be essential for eukaryotic cell cycle control. This gene is in close proximity to CDC2L2, a nearly identical gene in the same chromosomal region. The gene loci including this gene, CDC2L2, as well as metalloprotease MMP21/22, consist of two identical, tandemly linked genomic regions which are thought to be a part of the larger region that has been duplicated. This gene and CDC2L2 were shown to be deleted or altered frequently in neuroblastoma with amplified MYCN genes. The protein kinase encoded by this gene could be cleaved by caspases and was demonstrated to play roles in cell apoptosis. Several alternatively spliced variants of this gene have been reported. [provided by RefSeq, Jul 2008] 1 1 p36.33 1624180 1645637 - 1571100 1590473 - 6480464 12501247;12624090;17353931;9750192;8195233;1639388;10882096;18651850;17698582;17081983;16964243;15883043;15489334;15345747;15330758;15302935;15175163;14684736;14675149;14623875;14511641;12477932;12082095;11709559;9632733;9580558;19122208;19245811;9115219;7920654;7777541;2217177;1774066;15963510;16169070;16413544;17643375;19538938;19854136;19884882;20508983;18029348;15344906;16055720;21078675;21371428;21297952;21252943;22939629;21461981;21897860;21808150;21987572;22188294;19471022;21139048;21906983;15385968;21890473;21963094;21988832;22791884;22939624;18773076;22505724 984 J3KTL7;J3QKR5;J3QL65;J3QR29;J3QR44;Q9NZS5 ABBA01016061;ABBA01016062;ABBA01016063;AF067512;AF067513;AF067514;AF067515;AF067516;AF067517;AF080683;AF174497;AK000081;AK295607;AK301495;AK303446;AK303451;AK304679;AL691432;AMYH01000146;AMYH01000147;BC009375;BC139777;BC140714;BC171773;CH471183;M88563;NM_033486;NM_033487;NM_033488;NM_033489;NM_033492;NM_033493;U04816;U04817;U04818;U04824 AAA19582;AAA19583;AAA19584;AAA19586;AAB59449;AAC72077;AAC72078;AAC72079;AAC72080;AAC72081;AAC72082;AAC83662;AAC83663;AAC83664;AAC83665;AAC83666;AAF36538;AAH09375;AAI39778;AAI40715;AAI71773;BAG58493;BAG63006;BAG64491;BAG64496;BAG65451;EAW56170;EAW56171;EAW56172;EAW56173;NP_277021;NP_277022;NP_277023;NP_277024;NP_277027;NP_277028;P21127 Hs.709182 1658802;1662115;1668766;2164690 A002R14;AFMB067YH1;SHGC-34744;SHGC-74110 CDC2L1;CDC2L2;CDK11;CDK11-p110;CDK11-p46;CDK11-p58;CLK-1;FLJ59152;PK58;p58;p58CDC2L1;p58CLK-1 CDC-related protein kinase p58;PITSLRE serine/threonine-protein kinase CDC2L1;PITSLREA;cell division cycle 2-like 1 (PITSLRE proteins);cell division cycle 2-like 2 (PITSLRE proteins);cell division cycle 2-like protein kinase 1;cell division protein kinase 11B;cell division protein kinase 11B-like;cyclin-dependent kinase 11B;galactosyltransferase-associated protein kinase p58/GTA;p58 CLK-1 APPROVED protein-coding ENSG00000248333 1729 08909 176873 REVIEWED 731889 CDK1 cyclin-dependent kinase 1 The protein encoded by this gene is a member of the Ser