# 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;1