# RGD-PIPELINE: ftp-file-extracts # MODULE: genes-version-2.1.2.6 # GENERATED-ON: 2014/10/17 # 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. ### As of Aug 19, 2013 ver 2.1.2.6: gene descriptions made consistent with gene report pages from RGD website. # #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_37 chromosome for the old reference assembly build 37 #7 CHROMOSOME_38 chromosome for the current reference assembly build 38 #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_37 start position for old reference assembly build 37 #13 STOP_POS_37 stop position for old reference assembly build 37 #14 STRAND_37 strand information for old reference assembly build 37 #15 START_POS_38 start position for current reference assembly build 38 #16 STOP_POS_38 stop position for current reference assembly build 38 #17 STRAND_38 strand information for current reference assembly build 38 #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_37 CHROMOSOME_38 FISH_BAND START_POS_CELERA STOP_POS_CELERA STRAND_CELERA START_POS_37 STOP_POS_37 STRAND_37 START_POS_38 STOP_POS_38 STRAND_38 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 p13.31 100874108 AC006513;AC092490;DB552640 Hs.642063 APPROVED ncrna HGNC:41022 6766578 A2M-AS1 A2M antisense RNA 1 (head to head) INTERACTS WITH valproic acid 12 12 12 p13.31 10754899 10757777 + 9217773 9220651 + 9065177 9068055 + 6480464 14702039 144571 ABBA01012257;AC007436;AK056852;AK096375;AMYH02025998;HG504498;NR_026971 Hs.592432 2139910 SGC31674 RP11-436I9.2 APPROVED ncrna ENSG00000245105 HGNC:27057 PREDICTED 2311720 A1BG-AS1 A1BG antisense RNA 1 19 19 19 q13.4 55907329 55910543 + 58863336 58866549 + 58351970 58355183 + 12477932 503538 ABBA01020773;AC012313;AK027222;AMYH02036533;BC006144;BC040926;HG511104;HG511106;NR_015380 Hs.709582 1721049;1771488;2158079 G59506;RH65092;WI-16009 A1BG-AS;A1BGAS;FLJ23569;NCRNA00181 APPROVED ncrna ENSG00000268895 HGNC:37133 PREDICTED 1350441 A2MP1 alpha-2-macroglobulin pseudogene 1 INTERACTS WITH 17beta-estradiol 12 12 12 p13.31 10921342 10924048 - 9381129 9386803 - 9228533 9234207 - 1299021;6480464 2478422 16344560;19105203;20617511;21338416;22747683 3 ABBA01012258;AC010175;AMYH02025998;DB301195;DV080209;DV080210;DY655603;DY655604;M24415;NR_040112 Hs.569125 A2MP APPROVED pseudo ENSG00000256069 HGNC:8 VALIDATED 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 - 58858172 58864865 - 58346806 58353499 - 1580863;6480464 12477932;14702039;14760718;15221005;15461460;15489334;16335952;16502470;18706098;19056867;20116414;21591266;21900206;21988832;23284758;23418544;23690342;24250222;2591067;3458201;3610142;8889549 1 M0R009;P04217;V9HWD8 AA484435;AB073611;ABBA01020773;AC010642;AC012313;AF414429;AI022193;AK055885;AK056201;AK289417;AMYH02036533;BC035719;BX325198;BX537419;CH471135;EU794585;NM_130786;T80683;W25099 AAH35719;AAL07469;ACJ13639;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 HEL-S-163pA;alpha-1B-glycoprotein;epididymis secretory sperm binding protein Li 163pA APPROVED protein-coding ENSG00000121410 HGNC:5 00726 138670 REVIEWED 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 + 8975150 9029381 + 8822554 8876785 + 6480464;8554872 10737800;12477932;14702039;16298998;16344560;17562024;18648652;19199708;19204726;20805888;23407400;24097068;24550385 144568 A8K2U0;B3KVV6;B7Z7V4;F5GXP1;F5GYG7;F5H2Z2;H0YGG5;H0YH14 ABBA01012252;ABBA01012253;ABBA01012254;AC006513;AC006581;AK057908;AK096448;AK122624;AK123591;AK123592;AK123601;AK290355;AK302555;AL832139;AL832750;AL833479;AMYH02025994;BC093840;BC112131;BF330285;BF354222;BX647674;BX648231;CH471116;DA436610;DA456454;DA461408;EL594621;NM_001282424;NM_144670 A8K2U0;AAH93840;AAI12132;AAI72370;BAB71612;BAC04793;BAC85494;BAC85653;BAC85654;BAF83044;BAG53918;BAH13740;EAW88602;EAW88603;EAW88604;EAW88605;EAW88606;EAW88607;NP_001269353;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 HGNC:23336 08684 610627 VALIDATED 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 12 p13.31 10757430 10805676 - 9220304 9268558 - 9067708 9115962 - 1302534;1300322;1300048;1549856;1598509;1331525;1598512;1598513;1300321;1358261;1580863;1549857;2298922;1598407;6480464;6484113;6907045;7240710;7401223;8699517;8554872 10319853;11498265;12494268;12809600;14960360;15118671;15509519;16177542;16538883;2475424;9697696;9843780 10373500;10652313;10681572;10714547;10731476;10880251;11023837;11036822;11058789;11099722;11100124;11121179;11162584;11166925;11231028;11281447;11290389;11435418;11436125;11455130;11484172;11496365;11811950;11823454;11901360;11910179;11916201;11987698;12015318;12042276;12059070;12062545;12123860;12175343;12194978;12221172;12394648;12477932;12538697;12631277;12754519;12755614;12755687;12782337;12782964;1281457;12966032;1370808;1374237;14506912;14637088;14675603;14678766;14687906;14715656;14718574;14759632;14760718;15023809;15226301;15231748;15468911;15489334;15511627;15611997;15793779;15862967;15908432;15910735;15931081;15950906;16040006;16169070;16232083;16289162;16297527;16335952;16384981;16402284;16407218;16456795;16641085;16650578;16784755;16910174;1692292;1697852;1702714;1707161;17071617;17110338;1724156;17288987;17403113;17453620;17608619;17967834;18029348;18075673;18077315;18171086;18191876;18382889;18485748;18499670;18579803;18624398;18706476;19074141;19105203;19472074;19639019;19913121;20048078;20085233;20156641;20207732;20301340;20381197;20401725;20493925;20575108;20587546;20628086;20637261;20800603;20861575;21163940;21216953;21541797;21642630;21900206;21971609;21988832;22268729;22541546;22576683;22971340;23064953;23086799;23089609;23186781;23353684;23379699;23383108;23397525;23535567;23602568;23643808;23721263;23786280;23846698;24011543;2408344;24093110;2430963;2459995;2460294;2466831;2467766;2476070;24799681;2581245;3289986;59727;6153632;6165619;6167263;6172288;6191979;6195065;6203908;6698368;7519849;7524416;7533162;7533769;7680268;7690356;80233;8583572;8662763;89758;9166830;9344465;9398211;9428387;9714181;9724081;9831625;9865955 2 F5H1E8;F8W7L3;H0YFH1;P01023 AB209614;ABBA01012257;AC007436;AF349032;AF349033;AK307832;AK312482;AMYH02025998;AY591530;BC026246;BC040071;BX504041;BX647329;CH471116;CR749334;M11313;M36501;NG_011717;NM_000014;X68728;X68729;XM_006719056;Z11711 AAA51551;AAA51552;AAH26246;AAH40071;AAK38109;AAK38110;AAT02228;BAD92851;CAA48670;CAA77774;CAH18188;EAW88590;NP_000005;P01023;XP_006719119 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 APPROVED protein-coding ENSG00000175899 HGNC:7 00072 103950;104300;614036 REVIEWED 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 10 q11.23 45829119 45908228 - 52559169 52645435 - 50799409 50885675 - 1300341;1300239;6480464;8554872 704405;734901 10669759;10781591;10833526;11072063;11134005;11329013;11352648;11571303;11577082;11718896;11752456;11815617;11871661;12477932;12881431;12896982;14702039;15148397;15164054;16055734;18029348;19932086;23263486 29974 B4E1E3;F8W9F8;Q5T0W7;Q9NQ94 ABBA01052491;AF209192;AF271789;AF271790;AJ272078;AJ272079;AK000324;AK130022;AK291982;AK303801;AL512366;AL589794;AMYH02023057;AMYH02023058;BC022263;BC054873;BC130519;BC144194;BC144196;BG188383;CH471083;CR749831;NG_029916;NM_001198818;NM_001198819;NM_001198820;NM_014576;NM_138932;NM_138933;XM_005269718;XM_005269719;XM_005269720;XM_006717808;XM_006717809 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;XP_005269775;XP_005269776;XP_005269777;XP_006717871;XP_006717872 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-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 ENSG00000148584 HGNC:24086 10627 REVIEWED 1606731 A3GALT2 alpha 1,3-galactosyltransferase 2 ENCODES a protein that exhibits alpha-1,3-galactosyltransferase activity (inferred); INVOLVED IN carbohydrate metabolic process (inferred); glycosphingolipid biosynthetic process (inferred); FOUND IN membrane (inferred); INTERACTS WITH paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); beta-naphthoflavone (ortholog) 1 1 1 p35.1 32044033 32050184 - 33772367 33786699 - 33306766 33321098 - 6480464 18630988;23378701 127550 U3KPV4 ABBA01023379;ABBA01023380;AL513327;AMYH02000732;AMYH02000733;NM_001080438 NP_001073907 A3GALT2P;IGBS3S alpha 1,3-galactosyltransferase 2, pseudogene;globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 pseudogene;iGb3 synthase;isoglobotriaosylceramide synthase APPROVED protein-coding ENSG00000184389 HGNC:30005 INFERRED 1342487 AA atrophia areata, peripapillary chorioretinal degeneration 1298614 7795606 8 HGNC:11 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 22 q13.2 26998618 27027359 - 43088123 43117307 - 42692117 42721301 - 1300231;1580863;6480464;6907045;8554872 7795329 10591208;10747952;10748143;10854428;10993874;11782470;11896312;12477932;12888565;15142124;15489334;16212661;16712791;18067504;18187620;18757779;19139081;19470247;20467438;20732996;20837469;20961863;20971946;21092013;21186071;22965229;23927681;24082034;24417201 53947 Q6RJV6;Q9NPC4 AB037883;AB041418;ABBA01017929;AF513323;AF513326;AF513327;AJ245581;AK074388;AK312927;AL049757;AMYH02038466;AMYH02038467;AMYH02038468;AX211273;AY166861;AY166862;AY166863;AY358074;AY496228;AY496229;AY496230;AY941797;BC017068;BC055286;CB150578;CH471138;GU902277;KF457468;NG_007495;NM_017436;XM_005261643;XM_005261644;XM_005261646;XM_005261647;XM_005261648;XM_006724265;XM_006724266;XM_006724267;Z82176 AAH17068;AAH55286;AAO39149;AAO39150;AAO39151;AAP47164;AAP47167;AAP47168;AAQ68076;AAS77214;AAS77215;AAS77216;AAX20109;ABM82545;ABM85737;BAA94503;BAA95915;BAG35771;CAB93532;CAC69260;EAW73274;NP_059132;Q9NPC4;XP_005261700;XP_005261701;XP_005261703;XP_005261704;XP_005261705;XP_006724328;XP_006724329;XP_006724330 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 HGNC:18149 06390 111400;607922 REVIEWED 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 - 137842560 137851229 - 138123718 138132387 - 1580863;2325199;8554872 16441422 10430883;11304796;12477932;12594234;15489334;18029348;19751437;20379614;22307328;8125298 51146 Q9UNA3 ABBA01059096;AC023049;AF141315;AK225668;AMYH02007764;BC119639;BC119640;CH471052;NM_016161 AAD48406;AAI19640;AAI19641;EAW79084;NP_057245;Q9UNA3 Hs.278960 1792960;2109017 A4GNT_9671;PMC17720P1 MGC149493;alpha4GnT OTTHUMP00000216632 APPROVED protein-coding ENSG00000118017 HGNC:17968 12390 REVIEWED 8552198 AADACL2-AS1 AADACL2 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 3 3 151472860 151645963 - 151751179 151928175 - 8554872 20694011 101928142 ABBA01058902;AC068647;AC069067;AC084301;AMYH02007904;AMYH02007905;AMYH02007906;DB454604;HG496193;HG496194;HY022483;HY205836;NR_110202;NR_110203 Hs.680207 ncrna HGNC:50301 VALIDATED 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 3 q25.1 149949986 149964402 + 151531769 151546276 + 151813974 151828488 + 1580863;6480464;8554872 10318829;11481320;12477932;12721789;15152005;15489334;17936933;18029348;19339378;19343046;20379614;2043131;20694011;21856291;22415931;23542347;24125761;8063807;9299245;9665742 13 C9K0E9;P22760 ABBA01058902;AC068647;AK290628;AMYH02007904;AV705031;BC020706;BC032309;CH471052;L32179;NM_001086;XM_005247103;XM_005247104 AAA35551;AAH32309;BAF83317;EAW78791;EAW78792;NP_001077;P22760;XP_005247160;XP_005247161 Hs.506908 1719865;1775443;2116237;2218966;5024050 AADAC__4228;D3S4189;RH124029;RH36344;STS-L32179 CES5A1;DAC OTTHUMP00000216826;OTTHUMP00000216827;arylacetamide deacetylase (esterase) APPROVED protein-coding ENSG00000114771 HGNC:17 02640 600338 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 12 q13 53350517 53364688 - 53701240 53715412 - 53307456 53321628 - 1549858;1598514;1580863;6480464;7240710;8554872;8699517 15680696;16098009 10601273;11062474;11159947;11701718;11815731;11914417;12228227;12477932;12730363;12752575;14702039;15022193;15217518;15489334;15666842;15843079;16009940;16022285;16543750;16609705;16938764;18029348;18175081;18781797;19011813;19172511;19322026;19703420;19782045;19855093;19946888;20447142;20499090;20931227;21139048;21565631;21890473;21906983;21963094;21987572;21988832;22118674;22505724;23073554;23825130;24654937;24816145;8125298;8968764 8086 F8VUB6;F8VZ44;H3BU82;Q9NRG9 ABBA01008325;AC073611;AF226048;AJ289841;AJ289857;AJ297977;AK000833;AK094302;AK222509;AK293342;AL110160;AMYH02026517;AY237818;BC000659;BC018836;BT006912;CH471054;DC393722;NG_016775;NM_001173466;NM_015665;XM_006719617;XM_006719618;XM_006719619 AAF86948;AAH00659;AAP35558;AAP69911;ABM84232;ABM84790;BAA91394;BAD96229;BAG56858;CAB53665;CAC17465;CAC19017;CAC19038;EAW96692;EAW96693;NP_001166937;NP_056480;Q9NRG9;XP_006719680;XP_006719681;XP_006719682 Hs.369144 1736262;2146252;2149106;5020771 A008D12;D12S1190E;D12S1220E;RH15738 AAA;DKFZp586G1624;GL003 AAASb;ADRACALA;ADRACALIN;Allgrove, triple-A;OTTHUMP00000241954;OTTHUMP00000241955;OTTHUMP00000241957;achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A);aladin APPROVED protein-coding ENSG00000094914 HGNC:13666 05646 231550;605378 REVIEWED 732340 AACS acetoacetyl-CoA synthetase ENCODES a protein that exhibits acetoacetate-CoA ligase activity (inferred); ATP binding (inferred); butyrate-CoA ligase activity (inferred); INVOLVED IN adipose tissue development (inferred); cellular response to cholesterol (inferred); cellular response to glucose stimulus (inferred); PARTICIPATES IN butanoate metabolic pathway; ketone bodies metabolic pathway; ASSOCIATED WITH Diabetes Mellitus, Experimental (ortholog); Obesity (ortholog); FOUND IN cytoplasm (inferred); INTERACTS WITH cyclosporin A; isotretinoin; 17beta-estradiol (ortholog) 12 12 12 q24.31 125154148 125231815 + 125549925 125627879 + 125065379 125143333 + 1300048;2301022;2326093;2326191;6480464;6907045;8554872 12034369;15877199;19219059 12477932;12623130;14702039;17762044;18660489;20102333;21139048;21890473;21963094;24816145;4073493;9671465 65985 E7EW25;Q86V21 AB054121;ABBA01060343;ABBA01060344;ABBA01060345;ABBA01060346;ABBA01060347;ABBA01060348;ABBA01060349;ABBA01060350;ABBA01060351;AC122688;AK022451;AK022740;AK024036;AK024760;AK123245;AK304176;AK308779;AL833047;AMYH02027483;AMYH02027484;AY091468;BC004997;BC036694;BC040490;BC040574;BC041000;BC051862;CH471054;NM_023928;XM_005253609;XM_005253610;XM_005253611;XR_242960 AAH04997;AAH36694;AAH40490;AAH40574;AAH41000;AAH51862;AAM44124;BAB14040;BAB14216;BAB14793;BAB14991;BAD22560;BAG65058;CAH56309;EAW98473;EAW98474;EAW98475;NP_076417;Q86V21;XP_005253666;XP_005253667;XP_005253668 Hs.656073 2115113;2174109;5015739 A004F14;D21S1952;RH79052 ACSF1;FLJ12389;FLJ41251;SUR-5 OTTHUMP00000239025;acetoacetate-CoA ligase;acyl-CoA synthetase family member 1;homolog of C. elegans supressor of ras 5 (sur-5);protein sur-5 homolog protein-coding ENSG00000081760 HGNC:21298 12391 614364 VALIDATED 1604681 AACSP1 acetoacetyl-CoA synthetase pseudogene 1 5 5 5 q35.3 173819191 173830764 - 178191862 178203277 - 178764861 178776276 - 10682835;12477932 729522 AA954365;ABBA01010006;AC113348;AC126915;AMYH02012866;AMYH02012867;BC024222;BC140764;BC144474;DR008193;NR_024035 AAI40765 Hs.382790 1715233;2122465 D5S2536;RH119867 AACSL APPROVED pseudo HGNC:18226 VALIDATED 8552214 AADACP1 arylacetamide deacetylase pseudogene 1 3 3 3 q25.1 149906388 149920826 + 151488244 151502682 + 151770456 151784894 + 6480464 201651 ABBA01058902;AC068647;AMYH02007904;BC014344;NR_026915 Hs.383050 pseudo ENSG00000240602 HGNC:50305 PROVISIONAL 1602438 AADACL3 arylacetamide deacetylase-like 3 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene (ortholog) 1 1 1 p36.21 11888626 11901234 + 12776118 12788726 + 12716115 12728759 + 6480464;8554872 16710414 126767 Q5VUY0 ABBA01003098;AC244670;AK127828;AL513016;BG697255;NM_001103169;NM_001103170;NR_111984;XM_006710337 BAG54581;NP_001096639;NP_001096640;Q5VUY0;XP_006710400 Hs.464705 1756027 SHGC-142838 RP11-474O21.3 OTTHUMP00000001868;OTTHUMP00000001869 protein-coding ENSG00000188984 HGNC:32037 VALIDATED 1606396 AADACL2 arylacetamide deacetylase-like 2 ENCODES a protein that exhibits carboxylic ester hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN extracellular region (inferred); integral component of membrane (inferred) 3 3 3 q25.1 149869849 149893701 + 151451704 151475556 + 151733916 151757768 + 12477932;17207965;17562024 344752 F8WFE5;Q6P093 ABBA01058902;ABBA01058903;AC069067;AMYH02007904;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 protein-coding ENSG00000197953 HGNC:24427 14705 VALIDATED 1603850 AADACL4 arylacetamide deacetylase-like 4 ENCODES a protein that exhibits carboxylic ester hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene (ortholog) 1 1 1 p36.21 11817069 11839616 + 12704566 12727097 + 12644547 12667086 + 6480464;8554872 16710414;23251661 343066 Q5VUY2 ABBA01003095;ABBA01003096;AC244670;AC254633;AL513016;CH471130;NM_001013630;XM_006710608 EAW71744;NP_001013652;Q5VUY2;XP_006710671 Hs.209954 1692760 AL034145 OTTHUMP00000001872 protein-coding ENSG00000204518 HGNC:32038 15402 PROVISIONAL 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. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 4 4 4 q33 168313662 168343661 - 170981373 171012823 - 170060222 170090531 - 2290313;2290312;6480464;6907045;8554872 3400092;6466295 10441733;12126930;12477932;14702039;15489334;17207965;1798692;18056995;18056996;18620547;20877624;21473761;21712776;23408906;8087205 51166 D6RC56;D6REB9;D6RFY7;Q4W5N8;Q8N5Z0 ABBA01070343;AC084866;AF481738;AI190763;AK055952;AK314729;AMYH02010486;BC031068;CH471056;NM_001286682;NM_001286683;NM_016228;NM_182662;XM_006714231 AAH31068;AAM09683;AAY41030;ADQ32439;BAG37271;BAG51596;EAX04770;EAX04771;EAX04772;NP_001273611;NP_001273612;NP_057312;NP_872603;Q8N5Z0;XP_006714294 Hs.529735 1678037;1752677;1797230;2149339 AADAT_2008;D4S2681;RH98386;SHGC-106503 KAT/AadAT;KAT2;KATII 2-aminoadipate aminotransferase;2-aminoadipate transaminase;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 HGNC:17929 12392 611754 REVIEWED 1313944 AAED1 AhpC/TSA antioxidant enzyme domain containing 1 INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 9 9 9 q22.32 69845106 69859172 - 99403109 99417603 - 96640827 96655317 - 6480464 12234665;12477932;14710190;15164053;16341674;19322201 195827 B7ZKK1;H0Y5J5;H0Y7F1;Q7RTV5 ABBA01043573;ABBA01043574;ABBA01043575;AL353578;AMYH02021300;BC136501;BC136503;BF445089;BK000255;BM843088;BU631382;CH471174;NM_153698;XM_005251783;XM_005251784 AAI36502;AAI36504;DAA00065;EAW92661;EAW92662;EAW92663;NP_714542;Q7RTV5;XP_005251840;XP_005251841 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 HGNC:16881 18571 VALIDATED 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 - 67493013 67547536 - 67200675 67255198 - 6480464;7240710;8699517;8554872 10477754;11076863;11230166;11256614;12477932;14702039;15489334;15489336;16169070;16344560;16381901;17081983;19322201;20641033;21139048;22505724;23000146;23064416;23448244;23563198;23633024;23743648;24390136;8889548 79719 H0YL49;Q6PD74 ABBA01038804;AC012568;AC110292;AK021568;AK294402;AL136715;AL832256;AMYH02030664;BC001975;BC035852;BC047026;BC058886;BQ185328;BX648272;CB243401;CH471082;CR533540;DA160293;DA688370;DC315715;NG_033007;NM_001271885;NM_001271886;NM_024666;XM_005254664;XM_006720683 AAH01975;AAH47026;AAH58886;BAB13845;BAG57655;CAB66649;CAG38571;CAH10544;CAI46180;CAL37898;CAL38289;EAW77792;EAW77793;NP_001258814;NP_001258815;NP_078942;Q6PD74;XP_005254721;XP_006720746 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 HGNC:25662 07754 148600;614888 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 2 q35 212895431 212901472 - 219128852 219134893 - 218264129 218270170 - 6480464 10329261;11969303;12477932;15146197;15489334;16169070;16344560;18634987;19535145;20237496;21139048;21163940;21172430;21297633;21890473;21900206;21906983;21963094;22505724;22797925;22863883;22990118;23000965;23470693;23564791;7743515;8125298;8660919 14 C9JEH3;C9JG97;C9JTS3;H7C0R2;Q13685 AB209790;ABBA01023875;AC021016;AK131047;AK225078;AMYH02005786;BC008809;BC014122;BC020244;BC039866;BG534787;CH471063;CN277005;CR456755;DA465288;M95627;NG_033036;NM_001087;XM_005246325 AAA68889;AAH08809;AAH20244;AAH39866;BAD93027;CAG33036;EAW70599;EAW70600;EAW70601;NP_001078;Q13685;XP_005246382 Hs.83347 OTTHUMP00000207408;OTTHUMP00000207409;OTTHUMP00000207410;angio-associated migratory cell protein APPROVED protein-coding ENSG00000127837 HGNC:18 04600 603488 REVIEWED 1603054 AAMDC adipogenesis associated, Mth938 domain containing FOUND IN cytoplasm (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene 11 11 11 q14.1 74840499 74891881 + 77532147 77583398 + 77821114 77872352 + 6480464 12477932;14702039;15489334;17207965;20379614;21139048;21832049;23824909 28971 E9PIQ4;E9PJP1;E9PLK9;E9PNP3;E9PR47;H0YF35;K4DI89;Q9H7C9 ABBA01017417;ABBA01017418;ABBA01017419;ABBA01017420;AF092136;AK024688;AMYH02025144;AP000580;AP002812;BC002752;BC016854;CH471076;CR457332;KF455418;NM_024684;XM_005273938 AAD40378;AAH02752;AAH16854;ADQ32842;BAB14963;CAG33613;EAW75036;EAW75037;EAW75038;EAW75039;NP_078960;Q9H7C9;XP_005273995 Hs.745040 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 HGNC:30205 17924 PROVISIONAL 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 + 34824339 34844863 + 36236417 36256941 + 6480464 10810093;11230166;11780052;12477932;12665801;15489334;16189514;16196087;17207965;20360068;21139048;21145461;21890473;21906983;21963094;22505724;22797925;22939629;23000965;24816145 25980 A2A2Q9;Q9Y312 ABBA01019127;AF113672;AF132957;AL117419;AL121895;AMYH02037015;AW006181;BC001751;BC019311;CH471077;HY019727;NM_001271874;NM_015511;XM_005260385;XM_006723770 AAD27732;AAF29578;AAH01751;AAH19311;ADQ32438;CAB55913;EAW76141;EAW76142;EAW76143;NP_001258803;NP_056326;Q9Y312;XP_005260442;XP_006723833 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 HGNC:15886 12767 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 17 q25.1 71041811 71058583 + 74449433 74466199 + 76453351 76470117 + 1300232;1580863;1300048;2301030;2301037;2302130;6480464;6907045;7240710 12736803;16441550;17164235;18624957 11313340;11336675;11393533;11427721;11934439;12039872;12477932;12552951;14728993;15332344;15489334;17207965;17503170;18569588;18794762;19086053;19184136;19343046;19839995;20377855;20459461;20586889;21437622;21697133;21778461;2181999;7502081;8024705;8661026;8889549;9238858 15 F1T0I5;K7ERF6;K7ESH7;Q16613 AA084486;AB023793;AB023794;AB023795;AB023796;AB023797;AB593119;ABBA01028742;AC015802;AF360979;AI819939;AMYH02034013;AY055827;BC069434;BC092430;BC126332;BC126334;BC143989;CH471099;NG_015976;NM_001088;NM_001166579;NR_110548;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 HGNC:19 02974 600950;614163 REVIEWED 2311262 AARD alanine and arginine rich domain containing protein INVOLVED IN lung development (inferred); INTERACTS WITH paracetamol; 17alpha-ethynylestradiol (ortholog); all-trans-retinoic acid (ortholog) 8 8 8 q24.11 114139154 114144929 + 117950464 117956239 + 116938225 116944000 + 6480464 12477932;20549515 441376 B2RU19;Q4LEZ3 AB181519;ABBA01037793;AC087350;AMYH02018659;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 HGNC: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 2 p14 69535200 69722074 - 69685127 69901566 - 69457995 69643845 - 6480464;8554872 10470851;11877457;11877461;12471243;12477932;12952931;14617351;14702039;15292237;15302935;15489334;15815621;16083285;16344560;16782842;16903783;16964243;17178891;17494869;18029348;18657069;18976975;19380743;19772629;20379614;21464124;21832049;22645275;23934736 22848 E9PG46;Q2M2I8 AB028971;ABBA01075505;ABBA01075506;ABBA01075507;ABBA01075508;AC079121;AC092431;AC114772;AC136007;AF090100;AF090101;AK055622;AK056043;AK074292;AK098797;AK124872;AK127187;AK310951;AMYH02004022;AMYH02004023;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;RP11-427H3.3 AP2-associated protein kinase 1;OTTHUMP00000202200;OTTHUMP00000202201;adaptor-associated kinase 1 APPROVED protein-coding ENSG00000115977 HGNC:19679 10620 REVIEWED 1606776 AARSD1 alanyl-tRNA synthetase domain containing 1 ENCODES a protein that exhibits alanine-tRNA ligase activity (inferred); ATP binding (inferred); ligase activity, forming aminoacyl-tRNA and related compounds (inferred); INVOLVED IN alanyl-tRNA aminoacylation (inferred); regulation of translational fidelity (inferred); tRNA aminoacylation (inferred); FOUND IN nucleus; INTERACTS WITH all-trans-retinoic acid; cyclosporin A; ethyl methanesulfonate 17 17 17 q21.31 37758676 37788796 - 41102543 41116515 - 42950526 42964498 - 6480464 12477932;14702039;15342556;15489334;16344560;21139048;21693764;21890473;21906983;21963094;22505724;22863883;24250222;24816145;25036637;7545954;8889549 80755 H7C1K1;K7EQ85;K7N799;L7N2F4;L7N2F5;Q9BTE6 ABBA01006395;ABBA01006396;ABBA01006397;ABBA01006398;AC055866;AK309477;AL515977;AMYH02033442;AMYH02033443;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 HGNC:28417 14524 613212 VALIDATED 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 16 q22 55204771 55241876 + 70286198 70323452 - 70252394 70289555 - 1298623;1580863;6480464;7240710;8554872;8699517 8595897 10508479;11532948;11829477;12477932;15489334;16263121;16751776;17081983;19738201;19946888;20045102;20301462;20301532;21139048;21319273;21549344;21890473;21906983;21963094;22009580;22053931;22505724;22573628;22586326;22623428;22863883;22939629;23000965;23862649;24654937;24816145;25027693;2915692;7654687;7761427;8076819;8125298 16 H3BPK7;P49588 ABBA01010671;ABBA01010672;ABBA01010673;AC009060;AC012184;AC093491;AK222824;AK225116;AK299098;AK307782;AMYH02032294;AMYH02032295;BC011451;BG764123;BU178772;CH471241;D32050;DQ591736;NG_023191;NM_001605;XM_006721153 AAH11451;ABM82560;ABM85750;BAA06808;BAD96544;BAG61157;EAW51838;EAW51839;EAW51840;NP_001596;P49588;XP_006721216 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 HGNC:20 03042 601065;613287 REVIEWED 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 - 44266463 44281094 - 44298726 44313357 - 6480464;8699517;8554872;7240710 10574462;10737800;12421765;12477932;14574404;15146197;15161933;15489334;15779907;18029348;20877624;21139048;21549344;21906983;22277967;24457600;24808023 57505 Q5JTZ9 AB033096;ABBA01050640;AL353588;AL536467;AMYH02013658;BC013593;BC021131;BC033169;BC041026;BC128175;BC131728;BF768723;CH471081;CN343332;NG_031952;NM_020745;XM_005249245;XR_241907 AAH13593;AAH33169;AAI28176;AAI31729;BAA86584;EAX04268;NP_065796;Q5JTZ9;XP_005249302 Hs.158381 1336615;5020740;5022651;5024413;5037552 D11S1286;D11S2921;D8S2279;L17809;L17877 COXPD8;KIAA1270;LKENP;MT-ALARS;bA444E17.1 AARSL;MTALARS;OTTHUMP00000016528;alaRS;alanine tRNA ligase 2, mitochondrial (putative);alanine--tRNA ligase;alanine--tRNA ligase, mitochondrial;alanyl-tRNA synthetase 2, mitochondrial (putative);alanyl-tRNA synthetase like;alanyl-tRNA synthetase, mitochondrial;alanyl-tRNA synthetase-like;probable alanyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000124608 HGNC:21022 12397 612035;614096;615889 REVIEWED 1606160 AASDH aminoadipate-semialdehyde dehydrogenase ENCODES a protein that exhibits acid-thiol ligase activity (ortholog); INVOLVED IN fatty acid metabolic process (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; potassium chromate 4 4 4 q12 54710829 54760021 - 57204450 57254265 - 56338284 56387698 - 6480464 11230166;12477932;12712191;15198809;15865210;17762044;24467666 132949 B4DFZ3;B4E195;B4E2K0;D6RJA2;E9PH98;Q4L235;R4GNB1 AA743758;ABBA01003422;ABBA01003423;ABBA01003424;AC068620;AF161436;AF516672;AK294332;AK303733;AK304309;AK316296;AMYH02009256;AY314787;AY422212;BC015096;BC071815;BC141824;BC142709;BX640635;BX648853;CH471057;DC306784;NM_001286668;NM_001286669;NM_001286670;NM_001286671;NM_001286672;NM_181806;XM_005265721;XM_005265724;XM_005265726;XM_005265727 AAF28996;AAH71815;AAI41825;AAI42710;AAP76519;AAQ83120;AAR31184;BAG57604;BAG64707;BAG65162;BAH14667;CAH56130;CAH56482;EAX05484;EAX05485;EAX05486;NP_001273597;NP_001273598;NP_001273599;NP_001273600;NP_001273601;NP_861522;Q4L235;XP_005265778;XP_005265781;XP_005265783;XP_005265784 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 HGNC:23993 12398 614365 VALIDATED 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 + 105948292 105969419 + 106077565 106098692 + 1580863;6480464;6907045 10810093;10931946;11042152;11286508;12477932;12815048;15489334;16189514;18022563;19056867;19615732;19933275;20972266;21139048;21890473;21906983;21963094;21987572;22053931;22268729;22505724;22863883;22990118;24816145 60496 E9PLW6;E9PNF3;Q9NRN7 AB072896;ABBA01039900;AF136978;AF151057;AF151838;AF201943;AF302110;AK293362;AK312529;AL050073;AMYH02025514;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 HGNC: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 - 121713598 121784344 - 122073544 122144290 - 1300048;6480464;6907045;7240710;8554872;8699517 10567240;10775527;12477932;12690205;12853948;14702039;16344560;17314511;18029348;18976975;20186120;20467438;20811636;20877624;21890473;21906983;24778252;8125298;8889548;9847074 10157 A4D0W4;F8WAH1;F8WE53;H7C0C6;Q9UDR5 ABBA01057750;AC006020;AF229180;AJ007714;AK023446;AK225898;AK294326;AMYH02016672;BC144246;BC144247;BM669241;CH236947;CH471070;DA995180;NG_008140;NM_005763;XR_242220;XR_242221 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 HGNC:17366 05489 238700;268700;605113 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 17 q12 32128305 32236266 + 35306175 35414171 + 36948875 37056871 + 1580863;6480464;8554872 10580117;10783144;11027528;11790298;12376548;12429849;12450794;12477932;12787561;12847090;14627703;14697667;14702039;14761944;15207272;15231747;15489334;15635413;16189514;16565220;17006618;17081983;17157788;17468107;17488777;18029348;18049476;18341201;19454010;19471022;19834535;20025740;20211142;20532202;20708154;21139048;21145461;21252943;21693764;21890473;21906983;21963094;21987572;21988832;22505724;22586326;22678362;22751105;22797925;22909821;22933572;23000965;23251661;23798705;23801113;24250222;24778252;24816145 26574 Q9NY61 ABBA01012433;ABBA01012434;ABBA01012435;AC003103;AC023315;AC243773;AC244093;AF083208;AF161395;AJ249940;AK026173;AK057229;BC000591;CH471199;KF456270;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 BFR2;CHE-1;CHE1;DED apoptosis-antagonizing transcription factor;rb-binding protein Che-1 APPROVED protein-coding ENSG00000275700 HGNC:19235 12236 608463 REVIEWED 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 17 q25.3 152 5261 - 79084285 79139877 - 81117295 81166072 - 1580863;6480464 10083745;10837911;11314039;11314040;12168954;12477932;12670708;14521924;14563843;14702039;15489334;16969489;17651901;18029348;22321011;23080069;23251661;9734811 9625 H7C175;I3L360;I3L461;Q6ZMQ8 AB014541;ABBA01032123;ABBA01032124;ABBA01032125;ABBA01032126;ABBA01032127;ABBA01238725;AC115099;AK094931;AK131395;AK131529;AK309099;AMYH02034118;AMYH02034119;BC047378;BI256809;NG_029981;NM_001080395;NM_004920;XM_005257855;XM_006722193;XM_006722194;XM_006722195;XM_006722196;XM_006722197 AAH47378;BAA31616;BAD18544;BAD18667;NP_001073864;NP_004911;Q6ZMQ8;XP_005257912;XP_006722256;XP_006722257;XP_006722258;XP_006722259;XP_006722260 Hs.514575 1697596 RH102309 AATYK1;KIAA0641;LMR1;LMTK1;PPP1R77;p35BP AATYK;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 HGNC:21 05591 605276 REVIEWED 2304510 AATK-AS1 AATK antisense RNA 1 17 17 17 q25.3 75768565 75786300 + 79139307 79156964 + 81165507 81183164 + 12477932 388428 Q6ZT90 ABBA01032127;ABBA01032128;ABBA01032129;AC027601;AC115099;AK126811;AMYH02034119;AMYH02034120;AMYH02034121;BC140737;BC171777;CH471099;HG509540;HG509541;NR_027255 BAC86704;EAW89630 Hs.591202 FLJ44861 APPROVED ncrna ENSG00000225180 HGNC:40053 16976 VALIDATED 8549325 ABALON apoptotic BCL2L1-antisense long non-coding RNA q11.21 24992962 103021294 KC505631 INXS ncrna HGNC:49667 616018 1344732 AAVS1 adeno-associated virus integration site 1 1334463 17 S51329 HGNC:22 102699 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 16 p13.2 8937805 9047806 + 8768444 8878432 + 8674587 8784575 + 1580863;1598516;1598518;1598520;1598522;1598524;1598531;1300048;6480464;6907045;7240710;8554872;8699517 10375453;1570022;7740056;9344635;9706369;9846053 10407778;10951220;11181995;11256614;11918424;12477932;12694932;14702039;15489334;15528998;15642443;15650327;15830322;16344560;17474147;18334916;19598235;20052547;20379614;20659789;20677014;20877624;21552517;22225676;23824909;24489884;24639526;24722188;6148708;6470007;7305280;7721088;7851425 18 H3BMJ9;H3BNQ7;H3BP74;H3BP84;H3BPW8;H3BRJ1;H3BRN4;H3BRT1;P80404;X5D8S1 AA806200;ABBA01019724;ABBA01019725;ABBA01019726;ABBA01019727;ABBA01019728;ABBA01019729;AC007224;AC012173;AF237813;AK054834;AK096146;AK290501;AK293983;AK310771;AL137454;AMYH02031407;AMYH02031408;BC008990;BC013965;BC015628;BC031413;BC075851;BG749438;BG818982;BI459888;BI602086;BX537362;CH471112;DA228305;DA300126;DA531116;DB443567;DB479117;DC335224;KJ534758;KJ535005;L32961;NG_008432;NM_000663;NM_001127448;NM_020686;S75578;U80226;XM_005255154 AAA74449;AAB38510;AAD14176;AAG09758;AAH15628;AAH31413;ABM83995;ABM87322;AHW56398;AHW56644;BAF83190;BAH11640;EAW85207;EAW85208;EAW85209;NP_000654;NP_001120920;NP_065737;P80404;XP_005255211 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;NPD009 (S)-3-amino-2-methylpropionate transaminase;4-aminobutyrate aminotransferase, mitochondrial;4-aminobutyrate transaminase;GABA aminotransferase;GABA transaminase;GABA transferase;GABAT;OTTHUMP00000045876;gamma-amino-N-butyrate transaminase;hCG1984265 APPROVED protein-coding ENSG00000183044 HGNC:23 00661 137150;613163 REVIEWED 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 9 q31.1 78048593 78195737 - 107543283 107690527 - 104781002 104928246 - 1298630;1331525;1600654;1580863;1298571;1600951;1598532;1598533;1598534;1598547;1300323;1601092;1300233;1300234;2312576;6480464;6484679;7240710;8554872;8699517 10431236;10760292;11086027;11423537;12507911;15024730;15118671;15995177;16258026;16941710;17026988;17287470;18003760;21718801;8088782 10092505;10431237;10431238;10525055;10533863;10535983;10706591;10799318;10884428;10938021;10970803;11162594;11238261;11257260;11257261;11279031;11349008;11352567;11476961;11476965;11700048;11719471;11752403;11785958;11809185;11855831;11861672;11864601;11893753;11929608;11940086;11950847;12009425;12032171;12054535;12084722;12093886;12111371;12151852;12176027;12196520;12204794;12226704;12235128;12359250;12426219;12477932;12505994;12509412;12511593;12535741;12551894;12562845;12576507;12600718;12600975;12615681;12624133;12700893;12706378;12709788;12730295;12763760;12804586;12813037;12860256;12869555;12870173;12928428;12952980;12966036;14559902;14560020;14570867;14576201;14644402;14660648;14668333;14681836;14701812;14701824;14701850;14702039;14722086;14734645;14747463;14754908;14767869;14962947;14967052;14967823;14986172;14993242;15033469;15066991;15102890;15123239;15135251;15140889;15158913;15163665;15201080;15218032;15262183;15280376;15288432;15292375;15297675;15340333;15358117;15358760;15469992;15492319;15500734;15520867;15528463;15528481;15574409;15649702;15657615;15696473;15721294;15774904;15817453;15829498;15851589;15890646;15905177;15930518;15935359;15951431;15952113;15958302;15961705;15983222;16009332;16030523;16055210;16080812;16086925;16118212;16120575;16126721;16157450;16166555;16192269;16192270;16192271;16192272;16192273;16192274;16192275;16192276;16192277;16192278;16192279;16192281;16192282;16192283;16192284;16192285;16192286;16192287;16192288;16192289;16192290;16192291;16192292;16207713;16226177;16235041;16254209;16313984;16343503;16410457;16418537;16429166;16443932;16446539;16456089;16497665;16498633;16500904;16505586;16542392;16596262;16702602;16709568;16725228;16730733;16763159;16770077;16806233;16806540;16825673;16855366;16870193;16873719;16879828;16901265;16902247;16928680;17001213;17020879;17070530;17076584;17082211;17113061;17121837;17135302;17135600;17196163;17205124;17241464;17268197;17305370;17324514;17335784;17368464;17372331;17383594;17407076;17412755;17430597;17481640;17510466;17510946;17510949;17521614;17550732;17553166;17556657;17604270;17608096;17656736;17689273;17690481;17700364;17710129;17855807;17923263;17951323;17991739;17992631;18057374;18097620;18164264;18193043;18193044;18199144;18215356;18218626;18219093;18220685;18239666;18252847;18287097;18343215;18354102;18385134;18468402;18484747;18490524;18523221;18566305;18583707;18617649;18621447;18640393;18660489;18676680;18706283;18711208;18762171;18767813;18776170;18782226;18782758;18789440;18803945;18805791;18820007;18841006;18927311;18927546;18955690;18996286;19019193;19056482;19059534;19060906;19060911;19070858;19099922;19131637;19133158;19148283;19151332;19168441;19170196;19170766;19201410;19201688;19202195;19258317;19261092;19268428;19285487;19287193;19295162;19304534;19304576;19336370;19341173;19343046;19420105;19446537;19474452;19489872;19528336;19530967;19538231;19553242;19556522;19556721;19578796;19589783;19596329;19606474;19625176;19656776;19673941;19692168;19692220;19721717;19743957;19765707;19767535;19773416;19783654;19828131;19837407;19878569;19902402;19913121;19948975;20031551;20057170;20064972;20067955;20079340;20089670;20093111;20101560;20103810;20160193;20167577;20170916;20173014;20185793;20188211;20215580;20227257;20303467;20338636;20346718;20348106;20378541;20379614;20385819;20385826;20394740;20395597;20413849;20418488;20427018;20430392;20472936;20479131;20485864;20506155;20553836;20571217;20571754;20595220;20625316;20628086;20634891;20643408;20671065;20679960;20686565;20691829;20702810;20714348;20727372;20731376;20797885;20800056;20807164;20835684;20855565;20864672;20880529;20951680;20972250;21111593;21116278;21117950;21130966;21247457;21289254;21300560;21310416;21315358;21339300;21347282;21389634;21447678;21478209;21489276;21501700;21501868;21507939;21520210;21530801;21575609;21591583;21601208;21605865;21613373;21634116;21643759;21677398;21734188;21740892;21749932;21757691;21763656;21817095;21829447;21839797;21840005;21846716;21860089;21875686;21885853;21909109;21920460;21951852;21988832;22028339;22035022;22074701;22119192;22170052;22178419;22190032;22248050;22262807;22271762;22282358;22286219;22311493;22315319;22377775;22384526;22389325;22399527;22418575;22419126;22425645;22466164;22498566;22503545;22516753;22584245;22610793;22614118;22668585;22672264;22750655;22844345;22889411;22913458;22916037;22929031;22959828;22981231;22982414;22984509;23049088;23053993;23103472;23111454;23132909;23136402;23139370;23152888;23179156;23181436;23204179;23220274;23233737;23273975;23275468;23305686;23381994;23402987;23479619;23505323;23519696;23543682;23564066;23582768;23598720;23620136;23656756;23705956;23707398;23739547;23868939;23880356;23990020;23999864;24024966;24081377;24097068;24097981;24113149;24135019;24157307;24189493;24296892;24394674;24406162;24462860;24466114;24500716;24636347;24680682;24735204;24751522;7766993;9006906;9731541 19 B1AMI1;B1AMI2;B2RUU2;B7XCW9;O95477 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;AMYH02021384;AMYH02021385;AMYH02021386;BC034824;BC146856;BU753834;BX955241;CH471105;NG_007981;NM_005502;XM_005251773;XM_005251774;XM_005251776;XM_005251778;XM_005251780;XM_006716995 AAD49849;AAD49851;AAD49852;AAD49853;AAD49854;AAF69513;AAF86276;AAF98175;AAI46857;AAK43526;BAB07875;BAB63210;BAD92076;BAH10664;CAA10005;CAC21428;EAW58992;EAW58993;EAW58994;NP_005493;O95477;XP_005251830;XP_005251831;XP_005251833;XP_005251835;XP_005251837;XP_006717058 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 HGNC:29 02501 143890;205400;600046;604091 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 - 67144148 67240956 - 69148007 69244815 - 1580863;6480464;8554872 11435397;12477932;12821155;15489334;16094384;21145461;8894702 10349 E5RFN6;E5RFP5;H0YBL8;K7EMH5;K7ERP5;Q8WWZ4 ABBA01028948;ABBA01028949;AC005495;AK298508;AK310858;AL832004;AMYH02033879;AMYH02033880;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 HGNC:30 12400 612508 REVIEWED 1346566 ABCA11P ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene ENCODES a protein that exhibits ATP binding (inferred); ATPase activity (inferred); INVOLVED IN ATP catabolic process (inferred); INTERACTS WITH formaldehyde; kojic acid 4 4 4 p16.3 360935 409700 - 419224 467998 - 425435 474209 - 6480464 12477932;14702039;16344560 79963 Q4W5N1 ABBA01019327;ABBA01019328;AC092574;AK024359;AK303674;AMYH02008553;AMYH02008554;BC040413;BC060316;BC098116;BC098259;BC098291;BC099730;BC105084;BC112069;CH471131;DA501191;KF457728;NR_002451 AAY41037;BAB14895;BAG64671;EAW82667;Q4W5N1 Hs.745030 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 HGNC:31 08597 VALIDATED 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 2 q34 209565986 209772883 - 215796266 216003151 - 214931542 215138428 - 1598548;6480464;7240710;8554872;8699517 12915478 10094194;11435397;12477932;12697999;14702039;15756637;15980630;16007253;16902423;17508018;17591952;17611579;17927575;17986308;19179616;19262603;19429679;20301593;20379614;20672373;20869849;21339420;21633372;21712002;21798141;22257947;22505724;23528209;23954554;24324551;8845852;8894702 26154 B3KVV3;E9PBK1;Q86UK0 ABBA01062786;ABBA01062787;ABBA01062788;AC072062;AC114780;AF418105;AK096597;AK123578;AL080207;AMYH02005739;AMYH02005740;AMYH02005741;AY033486;AY219711;BC144073;CH471063;KF510780;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 HGNC:14637 07416 242500;601277;607800 REVIEWED 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 + 48211057 48687091 + 48171460 48647495 + 6480464;8554872 10737800;11162594;12477932;12697998;14702039;19058789;19944402;20379614;21145461;23250005;23266639;23910238 154664 F5H7B7;H0Y4D2;H7BZI9;H7C0U5;Q86UQ4 ABBA01008188;ABBA01008189;ABBA01008190;ABBA01008191;ABBA01008192;ABBA01008193;AC073424;AC073927;AC091770;AC095039;AC232300;AC232312;AF501281;AK091195;AK091270;AK126220;AK128516;AK128570;AK131360;AMYH02015669;AMYH02015670;AMYH02015671;AY204751;BC062666;BX647560;CH236955;CH471128;CV361876;FJ770081;JF913488;JF913489;JF913490;JF913491;JF913492;KF458461;KF511036;NG_012385;NM_152701 AAO59914;AAP13576;AFH89038;AFH89039;AFH89040;AFH89041;AFH89042;BAC03623;BAC86492;BAC87475;CAI46091;EAW60990;EAW60991;EAW60992;NP_689914;Q86UQ4 Hs.226568;Hs.745575 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;ATP-binding cassette sub-family A member 13 variant 2;ATP-binding cassette sub-family A member 13 variant 3;OTTHUMP00000208774 APPROVED protein-coding ENSG00000179869 HGNC:14638 07422 607807 REVIEWED 2298742 ABCA17P ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene INTERACTS WITH benzo[a]pyrene (ortholog); pirinixic acid (ortholog) 16 16 16 p13.3 2605352 2690909 + 2390923 2476700 + 2340922 2426699 + 6480464 14702039;16968533;18405356;20210993 650655 ABBA01030258;ABBA01030259;ABBA01030260;ABBA01030261;AC106820;AK095200;AMYH02031251;AMYH02031252;BC042853;DQ266102;DQ660314;NR_003574 Hs.376281 1336622;1732177 D16S3124;D16S663 ABCA17;FLJ37881 APPROVED pseudo ENSG00000238098 HGNC:32972 PROVISIONAL 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 9 q34 110414121 110431191 - 139901686 139923374 - 137007234 137028922 - 1298630;1580863;6480464;8554872 8088782 10470851;10639163;10970803;11178988;11309290;12107413;12363033;12421765;12477932;12560508;15093135;15155565;15203218;15238223;1538749;15491607;15649702;15850583;15999530;16344560;16752360;17081983;18336955;19343046;19913121;19946888;20167577;20628086;20704561;21041019;21072184;21078624;21707071;21906983;21963094;22086926;24145140;7766993 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;AMYH02021915;AMYH02021916;AMYH02021917;AMYH02021918;AMYH02021919;BC008755;BC029282;BC064542;BC090860;BC109244;BC144588;BC144589;BE273611;BF516223;BF983101;BI195329;BM314339;BM474929;BM921242;BM921499;CD612070;CD676110;CH471090;DB168116;JF279959;KF458947;NG_011789;NM_001606;NM_212533;U18235;U18236;XM_006716996 AAA84436;AAA84437;AAG09372;AAH08755;AAH64542;AAI09245;AAI72448;AAK14334;AAK14335;BAA83014;BAD66832;BAG58411;CAB82398;EAW88331;EAW88332;EAW88333;NP_001597;NP_997698;Q9BZC7;XP_006717059 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 HGNC:32 08967 600047 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 16 p13.3 2540308 2605176 - 2325879 2390747 - 2275878 2340746 - 1580863;1549859;6480464;7240710;8554872;8699517 15985750 11718719;11940594;12477932;15044640;15465012;15531465;15976379;16344560;16415354;16857811;16959783;16968533;17429902;17574245;17597647;17660803;18024538;18246475;18317237;18463677;18603241;19220077;19252731;19343046;19861431;19902402;20304423;20371530;20656946;20863830;21139048;21165348;21214890;21526180;21586796;21873242;21890473;22068586;22145626;22337229;22434821;22455634;22800827;22866751;23166334;23432194;23443156;24142515;24145140;24250222;24269975;24628317;24657120;24730976;24871971;8706931;9027511 21 H0Y3H2;Q4LE27;Q99758 AB070929;AB210044;ABBA01030263;ABBA01030264;ABBA01030265;ABBA01030266;AC005212;AC007162;AC009065;AC098805;AC106820;AK310864;AMYH02031249;AMYH02031250;AMYH02031251;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 HGNC: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 17 q24.3 63812102 63894875 - 67240576 67323323 - 69244435 69327182 - 1580863;1549860;6480464;8554872 16162093 11435397;11572484;12477932;12504089;14702039;15870284;16344560;17289887;17541169;18676680;19170196;19343046;19625176;19692168;20487690;21988832;22190034;22870217;23939407;8894702 23461 K7EJW6;K7EKS9;K7EMV2;K7ENF9;K7EPM3;K7EQ50;Q6N017;Q8WWZ7 AB067475;ABBA01028947;ABBA01028948;AC005495;AC115085;AJ275973;AJ512612;AK056533;AK058170;AK094416;AK096664;AK122803;AK292592;AMYH02033880;AMYH02033881;AMYH02033882;AY028897;BC029426;BC054480;BC070126;BC146819;BF448717;BX640746;BX647447;BX648540;CH471099;DB096625;KF456324;NG_034199;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 HGNC:35 09789 612503 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 1 p22 92712080 92840399 - 94458393 94586705 - 93992837 94121149 - 1580863;1598551;1598552;6480464;6893650;7240710;7829716;7829711;7815046;7829710;8547535;7815045;7829712;8547536;7829713;8554872;8699517 16546111;18024811;18463687;19553623;20212494;21447403;22328824;22661473;23701314;24342785;9295268;9466990 10075733;10090887;10206579;10466724;10612508;10634594;10711710;10746567;10767284;10880298;10958761;10958763;11017087;11320094;11328725;11346402;11379881;11384574;11385708;11444963;11527935;11594993;11726554;11919200;11973624;12111378;12202497;12442277;12515255;12592048;12673275;12754711;12796258;12824224;12888572;15017103;15223829;15375613;15494742;15947798;16303926;16533065;16604398;16681420;16917483;17286855;17325136;17724221;17932850;17982420;17997789;18214793;18285826;18334942;18506364;18523590;18649358;18854780;18977788;19015224;19028736;19056738;19074458;19217903;19265867;19343046;19352439;19365039;19365591;19430638;19578016;19625466;19913121;19948975;19959634;20029649;20128570;20163366;20301590;20335603;20379614;20404325;20436469;20591486;20628086;20647261;20661590;20696155;20711710;20801516;21330655;21502573;21510770;21546767;21567910;21721517;21786275;21834038;21911583;22060670;22220722;22229821;22247458;22312191;22395892;22427542;22449572;22589445;22706241;22753311;22863734;22948568;23096905;23143460;23144455;23167473;23362303;23419329;23443024;23512105;23755510;23755871;23769331;23882696;23918662;23940504;23949494;23953153;23982839;24011517;24097981;24265018;24397708;24453473;24457364;24664696;24713488;8889548;8894702;9054934;9070931;9202155;9288089;9288113;9425888;9490294;9503029;9666097;9703434;9781034;9973280 24 B4DWY6;P78363;Q6AI28 AB210040;ABBA01045515;ABBA01045516;ABBA01045517;AC093579;AC105278;AF000148;AF001945;AF533020;AK295818;AK296896;AK301733;AK301764;AK310492;AL712362;AMYH02001506;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 HGNC: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 19 p13.3 970935 998554 + 1040102 1065571 + 1040103 1065572 + 6480464;8554872 10873640;11054552;11095984;11355874;11435699;12111378;12917409;12925201;14570867;14592415;14702039;15203218;15593299;15930518;16908670;18029348;18676680;19170196;19343046;19625176;19692168;19721717;19913121;20628086;20855565;21173549;21460840;21460841;21906983;23324282;23571587;23669301;24064683;24097981;24141082;24162737;8889548 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;AMYH02035131;AMYH02035132;BU675136;CD629701;CH471139;DC405492;NM_019112;XM_006722616;XM_006722617;XM_006722618;XR_430126 AAF06727;AAF85794;AAI72426;AAK00959;AAN04657;BAB62294;BAG53455;BAG62707;CAB70762;EAW69556;EAW69557;EAW69558;EAW69559;EAW69560;EAW69561;EAW69562;EAW69563;EAW69564;NP_061985;Q8IZY2;XP_006722679;XP_006722680;XP_006722681 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 HGNC:37 09255 605414 REVIEWED 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 - 67074847 67138015 - 69078691 69143262 - 1580863;6480464;8554872 10639163;11435397;11478798;12477932;14702039;15174051;15489334;18676680;19170196;19343046;19625176;19692168;20379614;24028821;8894702 23460 Q8N139 ABBA01028949;ABBA01028950;AC005495;AC005922;AF373290;AF373328;AK097296;AK125487;AK308431;AMYH02033878;AMYH02033879;AY028898;BC029852;BC070125;BC125231;BC125232;NM_080284;U66680;XM_006721790;XM_006721791;XM_006721792;XM_006721793;XR_429879 AAH70125;AAI25232;AAI25233;AAI66682;AAK30023;AAM77557;AAM77558;BAC04994;BAG54204;NP_525023;Q8N139;XP_006721853;XP_006721854;XP_006721855;XP_006721856 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 HGNC:36 10622 612504 REVIEWED 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 encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 17 17 17 q24 63435265 63523392 - 66863428 66951550 - 68867287 68955404 - 1580863;6480464;8554872 10048485;11329013;12111378;12379217;12477932;14702039;15489334;16738483;17973979;19343046;19922823;20686565;21707071;23560799;23948991;24097068;24219920;8889548 10351 K7ELK9;O94911 AA448212;AB020629;ABBA01028951;ABBA01028952;AC005922;AC015844;AK090894;AK295876;AK304286;AK304360;AMYH02033877;AW590229;BC010392;BC024003;BC037309;BC047765;BC094689;BC130280;BC143971;BC143972;BG210966;BM665457;BM707283;CH471099;CK824290;NM_001288985;NM_001288986;NM_007168;XM_005256938;XM_005256940;XR_243626 AAH24003;AAH37309;AAH47765;AAH94689;AAI30281;BAA74845;BAG58673;BAG65144;BAG65201;EAW89068;EAW89069;NP_001275914;NP_001275915;NP_009099;O94911;XP_005256995;XP_005256997 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 HGNC: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 - 66970773 67058442 - 68974632 69062296 - 1580863;6480464;8554872 11435397;12150964;12477932;14702039;15489334;20877624;8889549;8894702 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;AMYH02033878;AW130042;AY028899;BC062472;BU072174;BU076154;CH471099;CR627382;NM_080283;W84726;XM_005256934;XM_005256935;XM_005256936;XM_005256937;XM_006721633;XM_006721634 AAH62472;AAI67781;AAK30024;AAN32751;AAN32752;BAB71359;BAC11021;CAH10479;EAW89071;EAW89072;EAW89073;EAW89074;NP_525022;Q8IUA7;XP_005256991;XP_005256992;XP_005256993;XP_005256994;XP_006721696;XP_006721697 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 HGNC: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 - 229652329 229694442 - 229516582 229558695 - 1580863;6480464 10748049;10922475;11829140;12477932;15215243;15252450;19151771;19322201;19343046;20877624;21139048;21890473;22085049;22190034;22939629;23620142;23716676;23720443;24250222;24816145;7766993 23456 Q9BXW0;Q9NRK6 AB013380;ABBA01009824;ABBA01009825;AF216833;AF277184;AK172794;AL121990;AMYH02002871;AMYH02002872;BC064930;CH471098;DQ786241;NM_012089;U18237;XM_006711754;XM_006711755 AAA84438;AAF78198;AAH64930;AAK07543;BAB20265;BAD18770;EAW69901;NP_036221;Q9NRK6;XP_006711817;XP_006711818 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 HGNC:41 09263 605454 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. [provided by RefSeq, Jul 2008] 7 7 7 q21.12 81837832 82047176 - 87133179 87342639 - 87503863 87713323 - 1598554;1580863;1598562;1598563;1598564;1358367;1598559;1598568;1598560;1358366;2315557;2315573;2315550;2312331;2312343;2315559;2315560;2315562;2315549;2315553;2315556;2316977;4890020;4890033;5130188;5135288;6480464;6484113;6907361;6907045;7240710;2301067;7364967;8657092;8657333;8699517;8657083;1342430;8657089;8657073;8657143;8657097;8554872;8657074;8657076;8657087;8657095;8657121 10725273;11888090;12089380;12154027;12423380;12615699;12686700;12746221;15049514;15380564;15505619;16107775;16574265;16619498;16790532;16928449;17074306;17135344;17177989;17353665;17891478;18756548;19152228;19323616;19470683;19484671;19603017;19654309;19733976;19752884;19879256;21148080;21685928;21788941;22170007;22223515;22674224;22705826;24040855;24717943;9713510 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5243 A4D1D2;E7EWT8;P08183 AA776371;AB208970;ABBA01045865;ABBA01045866;ABBA01045867;ABBA01045868;AC002457;AC005068;AF016534;AF016535;AF345625;AK290159;AK308467;AMYH02016216;AMYH02016217;AMYH02016218;AMYH02016219;AMYH02016220;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 HGNC:40 01370 120080;171050;612244 REVIEWED 1345233 ABCB10P1 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 1 15 15 15 q11.2 3453 3690 - 22689409 22693186 - 23179882 23183659 + 10922475;7766993 56476 ABBA01210948;AC116165;AF218417;AMYH02030022;NG_005041 ABCB10P;ABCB10P2;M-ABC2;MABC2 pseudo HGNC:14114 INFERRED 3516544 ABCB10P3 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 3 15 15 q13.1 28648011 28650177 + 28402865 28405031 + 728248 AC091304;AC138747;AC243660;NG_022122 pseudo HGNC:31129 INFERRED 3418289 ABCB10P4 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 4 15 15 q13.1 28751773 28753939 - 28506627 28508793 - 100132289 AC138749;AC243913;NG_022102 pseudo HGNC:31130 INFERRED 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 7 q21.1 81736239 81809903 - 87031361 87105019 - 87402045 87475703 - 1598588;1598589;1300324;1300325;1358123;6480464;6907045;7240710;8554872;8699517 11680581;12055592;12433976;8106172;9419367 10767346;11313316;11745043;12206920;12381474;12388190;12477932;12690205;12746424;12853948;12891548;14527955;14999697;15077010;15159385;15258199;16696816;16763017;16854530;16857572;16890614;16891356;17187437;17264802;17523162;17562004;17726488;17786139;18083082;18231753;18482588;18660489;18671305;18781607;19018976;19185004;19261551;19266607;19343046;19408031;19467940;19584064;19593667;19794400;19840247;19913121;19998509;2002063;20163776;20414253;20422496;20453000;20628086;20683201;20855565;21072184;21119540;21161147;21638239;21705081;21988832;21989363;22098322;22184139;22331132;22343912;22387667;22982378;23022423;23261441;23468132;23574360;24122873;24140176;24366234;24723470;24806754;25029804;2892668;2906314;3477522;7734012;7893760;7912266;7912658;8898203;9542318;9923886 5244 E7EQI1;H7C0M2;P21439 ABBA01045868;AC005045;AC005068;AC006154;AMYH02016216;BC020618;BC042531;CH236949;CH471091;EF034088;KF458496;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 HGNC:45 01371 147480;171060;600803;602347;614972 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 2 q24 163404770 163513162 - 169779336 169887833 - 168922826 169031323 - 1580863;1598583;1598580;1598571;1598596;625722;2316977;1598579;6480464;6907045;7240710;8554872;8699517 12135489;12702498;15853769;15901796;17353665;9806540;9828229 10579978;11172067;11495894;11600213;11745042;11783115;11815775;11829140;12825874;14762791;14999697;15077010;15159385;15300568;15471871;15791618;16039748;16290310;16749857;16763017;16871584;16890614;16941683;17264802;17622941;18176959;18270374;18395098;18521185;18660489;18668439;18676680;18692205;18987030;19056867;19060910;19101985;19170196;19343046;19408031;19571440;19625176;19669124;19692168;19821532;19833092;19845854;19888660;19898482;19913121;19937311;20010382;20028269;20147439;20163776;20232290;20301474;20379614;20414253;20447715;20453000;20628086;20683201;20702406;20723035;20855565;20857261;20858683;20883210;21139048;21386085;21490445;21691112;21766090;21811948;21909109;21988832;22001757;22098322;22161577;22262466;22673116;22681771;23022423;23279303;23701583;23750872;23758865;23876151;23929842;24002920;24058526;24097068;24335466;24366234;24378332;24711118;9545351 8647 H7C486;O95342 AB012959;ABBA01004960;ABBA01004961;AC008177;AC069137;AC093723;AF091582;AF136523;AK302540;AK303050;AMYH02005174;AMYH02005175;CH471058;CS016617;CS016619;NG_007374;NM_003742;XM_006712817;XM_006712818 AAC77455;AAD28285;AAY24100;AAY24305;BAA88711;BAG63812;BAG64170;CAI54162;CAI54163;EAX11285;EAX11286;EAX11287;NP_003733;O95342;XP_006712880;XP_006712881 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 HGNC:42 04436 601847;603201;605479 REVIEWED 731735 ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) 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 2 q36 213844200 213853379 - 220074488 220083712 - 219209766 219218990 - 1580863;1300326;6480464;8699517;7240710;8554872 10837493 11955620;11977179;12477932;14702039;15489334;16791740;17006453;17661442;18279659;18624398;19056867;19343046;20823549;20877624;20972266;21139048;21199866;21849266;21890473;21903422;21906983;21963094;21987572;22226084;22246506;22655043;22688660;22761424;22939629;22958180;23180570;23483087;23519333;23763549;23792964;23793916;24192121;24224009;24456066;24457600;24816145;8619474;8894702;9110174;9288777 10058 H7BXK9;H7C049;H7C1R6;H7C245;H7C3Z0;Q9NP58 AB039371;ABBA01023847;AC068946;AF070598;AF076775;AF308472;AF308473;AJ289233;AK026067;AK057026;AK172812;AK303230;AL560811;AMYH02005819;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;DUH3;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 HGNC:47 09261 111600;605452;614497;615402 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 7 p21.1 20639480 20782083 + 20655245 20796637 + 20615622 20757014 + 6480464;8554872 12477932;12690205;12960149;15205344;15488952;15489334;15760339;15899824;17661346;18202660;19477512;20068175;20339536;20682318;20729912;20950786;21212411;21298007;21652540;22044138;22306008;22393060;22555176;22784549;22865455;23259602;23535732;23770371;24300535;24324551;24804815;25030174;8894702;9542318 340273 H7C165;Q2M3G0 AB353947;ABBA01056675;ABBA01056676;AC002486;AC005060;AF319622;AF399931;AI334015;AK127141;AL040763;AMYH02015333;AMYH02015334;AMYH02015335;AMYH02015336;AMYH02015337;AMYH02015338;AY090613;AY230001;AY234788;AY785909;AY851364;AY851365;BC044248;BC104894;BC104920;BC110370;BM471690;BX452500;BX537763;CH236948;CH471073;GU437216;GU437217;H99394;KF454880;KF458397;KF458398;KF458399;KF458400;NM_001163941;NM_001163942;NM_001163993;NM_178559;XM_006715722 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;XP_006715785 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 HGNC:46 611785 VALIDATED 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 X q13.3 74556536 74659552 - 74273007 74376175 - 75053172 75156340 - 1298634;1598600;1580863;6480464;7240710;8554872;8699517 10196363;9143506 11042152;11050011;11843825;12477932;12480705;14702039;15146197;15342556;15489334;15772651;17006453;18029348;18398482;19343046;20186120;20301496;21139048;21380928;21726808;21832049;21987572;22398176;22939629;23070040;24816145;8894702;9621516;9883897 22 B4DGL8;E9PJR8;E9PNQ5;O75027;Q7Z3K5 ABBA01059486;ABBA01059487;ABBA01059488;ABBA01059489;ABBA01059490;ABBA01059491;ABBA01059492;ABBA01059493;ABBA01059494;ABBA01059495;ABBA01059496;ABBA01059497;AF038950;AF078777;AF133659;AF241887;AK001418;AK294657;AK307414;AL359545;AL360179;AL590232;AMYH02039785;AMYH02039786;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 HGNC:48 02137 300135;301310 REVIEWED 1316973 ABCB8 ATP-binding cassette, sub-family B (MDR/TAP), member 8 This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 7 7 7 q36 145282807 145302178 + 150725510 150744869 + 151028422 151047782 + 1580863;6480464;8554872 11829140;12477932;14702039;14973057;15284438;16169070;16259955;16344560;18029348;19147539;19151771;19248758;19343046;19913121;20379614;20628086;20877624;21046154;21906983;21963094;22375032;22939629;23182705;23512405;8125298;8894702;9878413 11194 C9JA03;C9JTY4;C9JYI3;F2Z2Z1;F2Z3G8;F8WC43;H7C5K9;Q9NUT2 ABBA01035167;AC010973;AF047690;AF086382;AK002018;AK024401;AK094005;AK094636;AK126885;AK128129;AK222911;AK294344;AK310796;AK314721;AL117497;AMYH02017067;BC130036;BC141814;BC141836;BC151235;CH471173;DA147595;DB540313;HY000407;NM_001282291;NM_001282292;NM_001282293;NM_007188;U66688 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_001269220;NP_001269221;NP_001269222;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 HGNC:49 10400 605464 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 12 q24 123006335 123052545 - 123405498 123451056 - 122920178 122966509 - 1580863;6480464 10748049;10819331;11011155;11829140;12477932;13679046;14702039;15302935;15489334;15491607;15518576;15577206;15863492;16344560;16525794;16554024;17977821;18175933;18434309;18952056;19343046;20377823;21194361;21212514;21507922;21906983;22641697;23382691;23974872;24013930;8889548;8894702 23457 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;AMYH02027443;BC017348;BC064384;CA503047;CH471054;CS071961;CS071963;DA796102;NM_001243013;NM_001243014;NM_019624;NM_019625;NM_203444;U66676;XM_005253558;XM_005253559;XM_006719314;XR_429086 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;XP_005253615;XP_005253616;XP_006719377 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 HGNC: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 6 p21.1 44951089 44969748 + 43395282 43418163 + 43427544 43450425 + 1358123;6480464;8554872 12433976 11146224;12477932;12527806;12566991;14574404;14702039;15231747;15256465;16034073;17203221;17897319;18974132;19082471;19118001;19150344;19343046;19720054;19841739;21576088;21628669;21890473;21906983;22082652;22739155;23087055;24937672;8894702 89845 D6R9B3;H0Y904;Q5T3U5 ABBA01050683;AK000002;AK024446;AL122095;AL133613;AL359813;AMYH02013646;AY032599;BC024103;CH471081;NM_001198934;NM_033450;XM_005249470;XM_006715240 AAH24103;AAI66699;AAK39642;BAA92227;BAB15736;CAB59263;CAB63742;EAX04180;EAX04181;EAX04182;EAX04183;EAX04184;EAX04185;NP_001185863;NP_258261;Q5T3U5;XP_005249527;XP_006715303 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 HGNC:52 07623 612509 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 16 q12.1 32707949 32776213 - 48200782 48281479 - 48166911 48235177 - 1580863;6480464;8699517;8554872 11435397;11483364;11591886;11688999;11802779;11803621;12076558;12133003;12477932;12764137;15277376;15331440;15537867;16359813;16444273;17095618;19056867;19240178;19336370;19383836;19557017;19625231;19644513;19650936;19710689;20718756;20937735;21165769;21182469;21187511;21423094;21782178;22256739;22699162;23288347;23350374;23619188;23970085;24024896;24076068;24231443;24286299 85320 H3BRJ2;Q96J66 ABBA01000918;AC007600;AC096996;AF352582;AF367202;AF411579;AK301547;AL117406;AMYH02031979;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 HGNC:14639 06127 117800;607040 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 - 48116884 48180681 - 48082973 48146770 - 1580863;6480464;8554872 11435397;11483364;11688999;12011458;12477932;14965249;15489334;16344560;19615732;20379614;20877624;24529757;25015289 94160 B4DYN2;E9PHY2;Q96J65 ABBA01000918;AC096996;AF395908;AF395909;AF411577;AF411578;AK122635;AK127951;AK302520;AK307109;AK308599;AMYH02031979;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 HGNC:14640 06128 607041 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 16 p13.1 15781784 15917085 + 16043434 16236931 + 15949577 16143074 + 1580863;631914;5128827;5128824;5128825;5128826;5128828;6480464;6484113;8554872 11238654;12930913;17072643;18931056;20487524;8662992 10064732;10493829;10811882;10835642;10950878;11114332;11139250;11266082;11278596;11278867;11439001;11465409;11469806;11557130;11561076;11600213;11689020;11721885;11755464;11771758;11783953;11809686;11820781;11925441;11937269;11986944;11995968;11996108;12018890;12034727;12042670;12084474;12119019;12135486;12146977;12163030;12186871;12235150;12388549;12388627;12458196;12486126;12576456;12628490;12646196;12653207;12783859;12856092;12882957;12890151;12897808;12925771;12954082;12954620;12960109;1360704;14561746;14578045;14580377;14722114;14737110;14984901;15155846;15161912;15208328;15245331;15252017;15260484;15269137;15355964;15472893;15623154;15628876;15810950;15856298;15999530;16014004;16041239;16041243;16156793;16230346;16278376;16293801;16330681;16395283;16410721;16464259;16481346;16547352;16551273;16565074;16621983;16697012;16784241;16821592;16883578;16914551;16946557;16960658;17033200;17050692;17203221;17215852;17264072;17295059;17336270;17350479;17445775;17494643;17596751;17606722;17710652;17852453;17875533;17890284;17925548;17980150;18029348;18038766;18056276;18200595;18204073;18256692;18280247;18316614;18336795;18381794;18400250;18439156;18621020;18680196;18690847;18702307;18711657;18713069;18775981;18799096;18838379;18851956;18924151;19019175;19063607;19065772;19067123;19107762;19129072;19165709;19214143;19214144;19235593;19285030;19291917;19343046;19349540;19393132;19438741;19513507;19552816;19622290;19636555;19672972;19687781;19723058;19851296;19875192;19883630;19885582;19897579;19913121;19924384;19940267;19946888;19948975;19956635;19969351;19969624;20004175;20051532;20093746;20109555;20198315;20200426;20233511;20234362;20388502;20453000;20520284;20530282;20532504;20604746;20628086;20689807;20922799;21090806;21139048;21143841;21177244;21182225;21315686;21317832;21435954;21520403;21609321;21701864;21736601;21793937;21799180;21890473;21903422;21906983;21929509;21956451;21963094;21987572;21988832;22026728;22037714;22053931;22084240;22086004;22117969;22143792;22182917;22188235;22232552;22272278;22293538;22353810;22445357;22511347;22664042;22695718;22787275;22798502;22871336;22899102;22939629;22982023;23052202;23178537;23396606;23580527;23667609;23686318;23765166;23799853;23896815;23917219;23996099;24013781;24024181;24030729;24080162;24129190;24145140;24145283;24146141;24382439;24816145;25029804;2753893;7916458;8098549;8649356;8831715;9295302;9334225;9344662;9441948;9485377 4363 I3L2H9;I3L4X2;P33527 AB209120;ABBA01048910;ABBA01048911;ABBA01048912;ABBA01048913;ABBA01048914;ABBA01048915;ABBA01048916;ABBA01048917;ABBA01048918;ABBA01048919;ABBA01048920;ABBA01048921;AC003026;AC025778;AC130651;AC136624;AC243757;AC243824;AF022853;AJ003198;AK311015;BC001636;BX648866;CH471226;CR749835;EF419769;HQ917064;HQ917065;HQ917066;HQ917067;KC877577;L05628;NG_028268;NM_004996;U91318;X78338;XM_005255327;XM_005255328;XM_005255329;XM_006720884;XM_006720885 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;XP_005255384;XP_005255385;XP_005255386;XP_006720947;XP_006720948 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 HGNC:51 01153 158343 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 10 q24 95279806 95349643 + 101542457 101611662 + 99782694 99851905 + 631914;1598602;1598611;1598613;1598614;1598616;1598571;1598605;69812;1580863;704399;1358123;2312726;2312728;2312730;2312736;2312809;2317509;2316977;2317508;6480464;6907045;7240710;2301067;8552693;8554872;8699517 10053008;12433976;12663688;12702498;15319330;16037978;16139386;1632778;16504477;16572733;16899240;17135344;17353665;17664251;18189363;19020751;19356064;19451719;23462933;8599091;8662992 10361853;10464142;10496535;10573531;11004020;11076395;11093739;11266082;11477083;11500505;11677213;11745434;11937269;11952788;12068294;12130697;12222674;12388192;12395335;12477932;12576456;12615054;12628490;12702717;12704183;12890151;12942343;12960109;14568249;15057744;15211708;15226675;15519273;15801936;15848949;15870973;15922475;16041239;16330681;16341674;16385451;16426233;16505951;16542205;16628674;16672223;16712791;16771603;16788565;16791115;16821592;16946557;17047488;17060857;17083032;17112803;17145840;17156953;17185998;17241877;17287630;17403188;17478601;17485564;17494643;17502832;17534875;17578901;17606722;17622941;17725603;17825285;17890284;17906856;17924828;17925548;17997497;18038766;18176959;18180270;18192894;18221820;18294295;18334920;18381564;18381794;18416940;18439156;18445995;18498916;18509327;18518855;18597651;18676680;18690847;18695635;18697280;18799096;18838068;18926681;18946804;18974617;18981587;19010343;19017997;19038257;19074644;19098406;19167193;19170196;19214140;19343046;19349540;19400747;19415824;19421150;19442037;19480556;19494809;19513507;19541926;19568750;19581412;19625176;19636001;19692168;19696793;19730281;19771428;19776292;19842932;19857663;19865079;19885582;19885591;19890061;19937833;19944137;19956635;19956884;20061166;20082599;20102361;20124171;20147615;20173083;20193114;20200426;20204280;20216337;20351751;20368715;20404332;20439344;20453000;20530282;20565459;20658178;20679960;20702406;20720558;20738239;20839930;20922799;20943283;20973683;21039333;21044052;21059598;21072184;21134393;21160029;21170509;21206495;21449672;21451505;21541183;21691255;21799461;21864659;21899702;21906983;21918980;21945491;21963094;21986666;21988832;22027652;22062654;22095822;22112610;22178260;22186618;22201120;22256867;22275271;22307138;22318656;22407408;22428913;22454528;22469515;22473764;22534871;22630058;22664480;22673116;22676135;22695893;22744337;22899102;22922069;22939629;22955427;23052037;23069858;23131697;23135210;23188068;23190519;23222202;23232902;23237922;23278697;23381786;23506516;23562342;23633119;23697249;23700788;23717663;23841074;23896815;24325761;24378332;24404132;24711118;7559771;8797578;8894702;9185779;9284939;9425227;9525973;9878557 1244 Q5TCZ5;Q92887 ABBA01063241;ABBA01063242;ABBA01063243;AF144630;AJ132244;AL133353;AL392107;AMYH02023647;AMYH02023648;BC136419;BM765259;CB120555;CH471066;CS172499;GM000488;NG_011798;NM_000392;U49248;U63970;U66683;X96395;XM_006717630;XM_006717631 AAB09422;AAB39892;AAD47599;AAI36420;CAA65259;CAB45309;CAJ33679;CAS97349;EAW49852;EAW49853;NP_000383;Q92887;XP_006717693;XP_006717694 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 HGNC:53 03065 237500;601107 REVIEWED 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 + 15646120 15673707 + 14273799 14301386 + 1580863;6480464;8554872 10049586;10830953;12036298;12445816;12477932;12909339;14759258;15203202;16124856;18668432;21988832;23738518;8894702 150000 Q9NSE7 ABBA01057083;AF130358;AF418600;AF518320;AF518321;AMYH02037515;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 HGNC:16022 10586 608835 REVIEWED 6481332 ABCC5-AS1 ABCC5 antisense RNA 1 3 3 183724126 183729207 + 184006338 184011419 + 100873982 ABBA01058465;ABBA01058466;AC068644;AMYH02008299;BE549568;HG496438;NR_046570 Hs.570696 RP11-315J22.3 APPROVED ncrna ENSG00000223882 HGNC:40055 VALIDATED 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 3 q27 182081049 182178505 - 183637722 183735803 - 183919934 184017939 - 1580863;1358123;2301088;2325200;6480464 12433976;15688370;16997484 10340910;10438534;10721709;10728601;10737800;10840050;10893247;12388627;12477932;12637526;12646196;12695538;14507663;15146197;15297306;15631998;15861033;16156793;17521428;17540771;17803828;18690847;19077464;19343046;19898482;19903828;19913121;19940267;19956884;20597995;20628086;20922799;21449672;21890473;21906983;21963094;21988832;22272278;22278731;22843873;23000965;23271324;8894702;9270026;9325169;9827529 10057 A5PKY6;C9JZL5;E9PET4;F8WCY8;F8WDH3;H7C271;O15440 AB005659;AB019002;AB209103;AB209454;ABBA01058465;ABBA01058466;ABBA01058467;ABBA01058468;AC068644;AF104942;AF146074;AL524917;AMYH02008298;AMYH02008299;AW207515;AY196484;AY754874;AY754875;AY754876;BC050744;BC051358;BC140771;BC142670;BC142719;BC144495;BE085682;BX647245;CH471052;CN410200;CN429416;NM_001023587;NM_005688;U66687;U83661;XM_005247058;XM_005247059 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;XP_005247115;XP_005247116 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;MRP5;SMRP;pABC11 ATP-binding cassette sub-family C member 5;MOATC;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 HGNC: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 17 q22 45173593 45230401 + 48712205 48769063 + 50634844 50691702 + 1300327;1598620;1580863;1358123;2301069;2301064;2301062;2301060;2301067;2325200;6480464;6907045;8552693;8554872 10094960;12433976;14731123;15688370;16543292;17135344;17640958;17855625;18096675;23462933 10340910;10359813;10362653;10772892;11745434;11820781;11850532;12220224;12477932;12628490;12704183;14759258;15167703;15824121;16278398;16424827;16460798;16946557;17272513;17300812;17485564;17494643;17495421;18038766;18207572;18313914;18593940;18604784;18698235;18799096;19077464;19107936;19114588;19334674;19343046;19345732;19480556;19913121;19937796;19956884;20200426;20379614;20453000;20563633;20628086;20706999;20922799;21139048;21512263;21606946;21780830;21799180;21906983;21963094;21987572;22016816;22089114;22105759;22272278;22585709;22699933;22767273;23000965;23069916;23176825;23588304;23692149;23747343;24083708;24272336;8894702;9270026;9738950;9813153;9827529;9889399 8714 D6RAB7;D6RJE5;H0Y8Q6;H0Y8T5;H0Y9T4;O15438;Q86VN9 AB010887;AB208954;ABBA01041243;ABBA01041244;AC004590;AC005921;AF009670;AF083552;AF085690;AF085691;AF085692;AF104943;AF154001;AJ294545;AMYH02033596;AMYH02033597;BC034683;BC046126;BC050370;BC058907;BC104952;BC127655;BC131755;BC137347;BC137348;BX649137;CH471109;NM_001144070;NM_003786;U83659;XM_005257763;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;XP_005257820 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 HGNC: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. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014] 13 13 13 q32 76520037 76801492 - 95672083 95953705 - 95019829 95301441 - 1580863;2301085;6480464;6907045;8552693;8554872 15030973;23462933 10470083;11856762;11991713;12105214;12133003;12477932;12499391;12523936;12637526;12695538;12792791;12835412;12883481;14643890;15123239;15297306;15364914;15827327;16156793;16282361;16791115;17003774;17081983;17083032;17229149;17404579;17578901;17682070;17696930;17878487;17903305;17939016;17959747;18045536;18364470;18612080;18615486;18625884;18636120;18662272;18676680;18690847;19073137;19077464;19082692;19138942;19170196;19343046;19399588;19400747;19480556;19515727;19625176;19692168;19696793;19735648;19903828;19913121;19940267;19956635;20018925;20032540;20133816;20171186;20200426;20379614;20393862;20395535;20530583;20547088;20628086;20727860;20804728;20834067;20922799;21139048;21156465;21205825;21296199;21359593;21571869;21741706;21799180;21866459;21890473;21897051;21906983;21922333;21963094;21987572;22139419;22272278;22411990;22542979;23087145;23126166;23222202;23472950;23478653;23503867;23575399;23665398;23742099;23766510;23794731;24024181;24036158;24067562;24184504;24436471;24492322;24510239;24591841;24694755;24836986;24870404;24902864;24909729;24958844;25121519;25174819;2806887;7557451;8894702;9270026;9661885 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;AMYH02028513;AMYH02028514;AMYH02028515;AMYH02028516;AMYH02028517;AMYH02028518;AMYH02028519;AMYH02028520;AY081219;AY133678;AY133679;AY133680;AY207008;BC041560;BM687848;BP382967;BU689822;BX113883;BX647118;CA314196;CH471085;CN410193;CS223373;NM_001105515;NM_001301829;NM_001301830;NM_005845;U83660;XM_005254025;XM_006719914 AAB71757;AAC27076;AAC27077;AAH41560;AAL88745;AAN08628;AAN08629;AAN08630;AAN17334;AAO37649;BAD92210;BAF83006;BAH12293;BAH12910;CAJ46926;EAX08949;EAX08950;EAX08951;EAX08952;NP_001098985;NP_001288758;NP_001288759;NP_005836;O15439;XP_005254082;XP_006719977 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;MRP4 ATP-binding cassette sub-family C member 4;MOATB;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 HGNC:55 05583 605250 REVIEWED 2293908 ABCC6P2 ATP-binding cassette, sub-family C, member 6 pseudogene 2 16 16 p13.11 14916289 14918559 - 14822432 14824702 - 6480464 12477932;15760889;18405356;22873774 730013 AC136443;AC245049;BC015978;NR_023387 Hs.460057 5114788 A007L01 pseudo ENSG00000255277 HGNC: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 16 p13.1 15923582 15972084 - 16243422 16318083 - 16149565 16223471 - 1580863;1331525;737772;1549868;1358123;6480464;7240710;8554872;8699517 10835643;11493310;12433976;15118671 10424734;10493829;10585762;10811882;10835642;10913334;10954200;11058917;11179012;11427982;11431746;11439001;11536079;11702217;11776382;11880368;12176944;12384774;12477932;12673275;12714611;12850230;12901863;14631379;15459974;15645653;15723264;15727254;15760889;15889270;15894595;15996518;16086317;16127278;16374464;16392638;16543900;16835894;17045963;17309461;17617515;17724214;17823974;17880583;18024896;18029147;18191640;18253096;18305351;18347285;18439156;18791038;18800149;18850323;19056482;19133228;19240061;19284998;19298904;19339160;19341707;19343046;19904211;19929409;20032990;20075945;20301292;20463007;20541540;20801516;20855565;21179111;21748403;21813308;21831958;21988832;22056557;22209248;22763786;22873774;23122642;23382691;23572048;23625951;23702584;23912081;24008425;24277820;24352041;24479134;24555429;3359381;4841083;8894702;8912525;9267806;9721217;9892204 368 A2RRN8;E7ESW8;I3L1Z6;O95255 ABBA01048921;ABBA01048922;ABBA01048923;ABBA01216899;AC136624;AC243824;AF076622;AF168791;AI074459;AK298295;AM711638;AM774324;AY078405;BC050733;BC131732;CH471226;DC361874;NG_007558;NM_001079528;NM_001171;U91318;XM_005255310;XM_006725193;XM_006725194 AAC15785;AAC79696;AAD51293;AAH50733;AAI31733;AAL83711;BAG60553;CAN84639;CAO81806;EAW53950;EAW53951;EAW53952;NP_001072996;NP_001162;O95255;XP_005255367;XP_006725256;XP_006725257 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;MRP6;PXE;PXE1;URG7 ATP-binding cassette sub-family C member 6;MOATE;OTTHUMP00000160427;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 HGNC:57 04453 177850;264800;603234;614473 REVIEWED 1625838 ABCC6P1 ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional) 16 16 16 p12.3 17778272 17779791 - 18582570 18609611 + 18571248 18598289 + 6480464 12477932;18405356;22873774 653190 ABBA01001980;ABBA01001981;AC136618;AK298443;AMYH02031613;BC075833;NR_003569 BAH12790 Hs.13188 1683481;1694756;1714015 G43581;RH119438;RH74970 APPROVED pseudo ENSG00000256340 HGNC:33352 PROVISIONAL 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 12 p12.1 27105336 27244581 - 21950323 22094797 - 21797389 21941863 - 1580863;1598644;1598645;1598647;1300328;2301909;6480464;7240710;8554872;8699517 15034580;15115899;15857625;15964031;18471810 10093054;10497157;10498831;10625598;11007308;11054556;11136227;11825905;12107410;12145195;12189208;12356945;12477932;12738227;12934053;14702039;15339904;16189514;16267564;16563363;16672225;16820413;18026101;18239147;18663158;18936737;18996111;19343046;19481058;19607836;19729596;19913121;19952277;19962959;20033705;20301486;20474083;20600101;20628086;20664073;20847183;22105623;22608503;22610116;23251661;23307537;23739550;25275207;8630239;8826984;9457174;9692785;9714850;9755153 10060 G3V1N6;H0YFV4;K4DI86;O60706;Q8N4N7 ABBA01067973;ABBA01067974;ABBA01067975;AC008250;AC084806;AF061323;AF061324;AK056519;AK092535;AK094171;AMYH02026170;AMYH02026171;BC033804;BX537513;BX640893;CA389699;CH471094;KF459680;KF495813;KF570253;NG_012819;NM_005691;NM_020297;XM_005253284;XM_005253286;XM_005253287;XM_005253288;XM_005253289;XM_005253290;XM_005253291;XM_006719025 AAC16057;AAC16058;AAH33804;BAC04300;EAW96452;EAW96453;EAW96454;EAW96455;EAW96456;EAW96457;EAW96458;EAW96459;EAW96460;NP_005682;NP_064693;O60706;XP_005253341;XP_005253343;XP_005253344;XP_005253345;XP_005253346;XP_005253347;XP_005253348;XP_006719088 Hs.732701 1716419;1743003;2146578;5015607;5015609;5018983;5022637;5118147 AL033784;D11S2766;D11S3014;D11S3017;D11S3026;GDB:229337;RH121390;SHGC-18112 ABC37;ATFB12;CMD1O;FLJ36852;SUR2 ATP-binding cassette sub-family C member 9;ATP-binding cassette transporter sub-family C member 9;CANTU;OTTHUMP00000240076;OTTHUMP00000240077;OTTHUMP00000240078;sulfonylurea receptor 2;sulfonylurea receptor 2A APPROVED protein-coding ENSG00000069431 HGNC:60 03258 239850;601439;608569;614050 REVIEWED 1353939 ABCD1P1 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 1 2 2 p11 3130 3906 + 89764144 89764920 - 8829626;9215666 23785 ABBA01126667;AC242245;NG_001246;U90290;X82264 pseudo HGNC:62 INFERRED 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] 11 11 11 p15.1 17544259 17628301 - 17414432 17498449 - 17392885 17476845 - 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;8554872;8699517 11030411;12199344;12496311;12524541;15579791;15857625;16416420;16550187;17259403;17285300;17657312;17673715;18021373;18025464;18316485;18346985;18599530;18664331;18776135;18940941;7716548;9769320 10202168;10204114;10334322;10338089;10447255;10506167;10506587;10615958;10639163;11018078;11160857;11226335;11318841;11536079;11692183;11825905;11867634;11938023;12118200;12149601;12213829;12356945;12364426;12475776;12540637;12879777;12937135;12941782;12941953;14660679;14728986;15111507;15356046;15562009;15579781;15613469;15807877;15840308;15842514;16357843;16373383;16429405;16613899;16873704;16885549;16897043;17118480;17207885;17213273;17317760;17378627;17389331;17446535;17516295;17535866;17575084;17593344;17597441;17636114;17668386;17823772;17919176;17942821;17942822;18025408;18162506;18281290;18290324;18339976;18390792;18392808;18497752;18596924;18679166;18758683;18767144;18796522;18828733;18988933;18996102;19021632;19056482;19139106;19254908;19342262;19343046;19475716;19498446;19578796;19587354;19766903;19913121;20042013;20079163;20164212;20215776;20301549;20301620;20384434;20410530;20453000;20573158;20602615;20628086;20682687;20685672;20734064;20810569;20863361;20922570;21173146;21199866;21214702;21378087;21422196;21536946;21540348;21544516;21617188;21671119;21674179;21716120;21923736;21978130;21981029;21989597;21992908;22020219;22086197;22106158;22187380;22308858;22326206;22451668;22466262;22533711;22562119;22704848;22802590;22815030;22927833;22972803;23050777;23266803;23273570;23301914;23345197;23362136;23633925;23652837;23764562;23965746;24065655;24080777;24145932;24429282;24686051;24768178;7502040;7716547;7847376;7920639;8630239;8635661;8650576;8751851;8923011;9041101;9135131;9519757;9568693;9618169;9648840;9653196 6833 E9PK50;H0YDH8;H0YE33;H0YEA9;H0YF51;Q09428 AB209084;ABBA01061064;ABBA01061065;AC124798;AF087138;AK297560;AMYH02024383;AMYH02024384;AW444836;BM313666;BM352492;BU950000;CH471064;DB636549;HM635782;L40625;L78207;L78243;NG_008867;NM_000352;NM_001287174;R84665;U63421;U63455;XM_006718286 AAA99227;AAB02278;AAB02417;AAB02418;AAB36699;AAB36700;AAC36724;AAI67829;ADM67556;BAD92321;BAH12616;EAW68436;EAW68437;NP_000343;NP_001274103;Q09428;XP_006718349 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 HGNC:59 02741 125853;240800;256450;600509;606176;610374 REVIEWED 1342564 ABCD1P3 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 3 16 16 16 p11 30805852 30806644 - 32486344 32487136 - 32475023 32475815 - 9215666 26982 ABBA01001314;AC138915;AMYH02031864;NG_001269;U90289 pseudo HGNC:64 INFERRED 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 X q28 153224004 153243898 + 152990323 153010216 + 153724868 153744762 + 1580863;1598655;6480464;7240710;8554872;8699517 8048932 10190819;10369742;10480364;10551832;10640429;10704444;10737980;10777694;10980539;11248239;11438993;11748843;11798073;11810273;11883941;11992258;12175782;12210797;12477932;12509471;12530690;12579499;12624723;14533738;14556192;14767898;15001567;15489334;15643618;15772093;15772651;15781447;16018167;16087056;16331554;16756494;16781659;17285533;1746561;17504626;17542813;17609205;17662307;17761426;17828604;18306728;18481121;18757502;18973459;19204726;19343046;19406751;19787628;19946888;20042197;20301491;20376793;20659892;20661612;20811636;20889312;21145416;21273699;21700483;21889498;21890473;21963094;21966424;21987572;21988832;22280810;22939629;22994209;23123468;23300730;23469258;23566833;23671276;23835273;24480483;24501781;25027693;6524872;6795626;7581394;7668254;7717396;7811247;7825602;7849723;7904210;7959759;8002973;8004093;8040304;8441467;8507690;8520725;8535452;8566952;8651290;9195223;9215666;9425230;9702690 215 A6NEP8;H0Y7L9;P33897 ABBA01045361;ABBA01045362;ABBA01045363;ABBA01045364;AMYH02040842;AY421736;AY421737;AY421738;BC015541;BC025358;CH471172;DQ305405;KF510653;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 HGNC:61 02300 300100;300371 REVIEWED 1351987 ABCD1P4 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 4 22 22 22 q11 548659 549448 + 16868415 16872610 + 16387689 16391884 + 10591208;9215666 26957 ABBA01001472;AC137499;AMYH02037976;AP000543;NG_001265;U90291 ALD22Q11 pseudo HGNC:65 INFERRED 1351336 ABCD1P2 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 2 10 10 10 p11 311720 312509 - 38894541 38898740 + 38601410 38605609 + 9215666 26983 ABBA01003913;AL133173;NG_001270;U90288 bA453N3.6 pseudo HGNC:63 INFERRED 5487936 ABCD1P5 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 5 2 2 p11.1 92028072 92031839 + 91840046 91843813 + 11181995 642762 ABBA01048752;AC127391;AMYH02004287;CH471366;NG_006974 EAW50840 1794258 PMC310890P10 pseudo HGNC:42662 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 1 p21.3 93137599 93238680 + 94883933 94984219 + 94418377 94518663 + 1580863;1300330;1598658;6480464;7240710;8699517;8554872 1301993;7528830 10447258;10551832;10704444;10777694;11248239;11453642;11883941;12176987;12477932;1301179;14702039;14709540;1536884;16344115;16710414;17353931;17602313;17609205;18029348;18660489;19343046;19615732;19913121;19946888;20007743;20379614;20562859;20628086;20661612;20877624;21139048;21145461;21525035;21890473;21906983;21963094;21987572;21988832;22190034;22505724;22678362;22939629;22990118;23000965;23602568;24250222;24333844;24457600;24816145;8449508;8453064;8726233;9126326;9199576;9425230;9521874;9765053;9922452 5825 P28288 ABBA01045508;ABBA01045509;AC093117;AC118469;AK126440;AK296791;AK302714;AK308159;AL138758;AMYH02001508;BC009712;BC068509;BT006644;BX648715;CH471097;DC317792;M81182;NG_008865;NM_001122674;NM_002858;X58528;X83467;XM_005271088;XM_005271089;XM_006710802 AAA60128;AAH09712;AAH68509;AAP35290;BAG59369;BAG63934;CAA41416;CAA58470;EAW73046;EAW73047;EAW73048;EAW73049;EAW73050;NP_001116146;NP_002849;P28288;XP_005271145;XP_005271146;XP_006710865 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 HGNC:67 01368 170995 REVIEWED 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 12 q12 38749047 38818059 - 39945022 40013843 - 39551220 39620041 - 1300329;1580863;6480464;8554872 8577752 10196381;10329405;10551832;10704444;10777694;11883941;12477932;15489334;16249184;16344560;17602313;18029348;18660489;18834860;19343046;20661612;20877624;21145416;21963094;21987572;23437103;24338191;9195160;9345306 225 Q9UBJ2 ABBA01049534;AC121334;AC125491;AF119822;AF119823;AF119824;AF119825;AF119826;AF119827;AF119828;AF119829;AF119830;AF119831;AJ000327;AK314254;AMYH02026333;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 HGNC:66 03051 601081 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 6 p21.33 32137288 32157421 + 30539170 30559309 + 30571393 30591532 + 1580863;6480464 10581359;10931828;12477932;14574404;15302935;15345747;15489334;16169070;16964243;17081983;17119950;17370265;17456004;17894550;19343046;19570978;19738201;19851445;19912639;19946888;21048031;21139048;21145461;21252943;21832049;21890473;21900946;21906983;21907836;22174317;22586326;22678362;22863883;22952844;23000965;23182705;23263557;23719290;24250222;24457600;24816145;9790762 23 F5GYK6;H0YGW7;Q2L6I2;Q5STZ8;Q8NE71 AB023052;AB088096;AB103602;AB202093;AB209564;ABBA01038049;ABBA01038050;AC006138;AF027302;AK298061;AK307551;AL662800;AL662825;AL832430;AMYH02013436;AMYH02013437;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 HGNC:70 09139 603429 REVIEWED 7246954 ABCF2P1 ATP-binding cassette, sub-family F (GCN20), member 2 pseudogene 1 3 3 3 p11.1 89120226 89122156 + 88366241 88368171 + 88317091 88319021 + 344653 ABBA01004635;AC126475;AMYH02007222;NG_022253 pseudo HGNC:48841 INFERRED 7246989 ABCF2P2 ATP-binding cassette, sub-family F (GCN20), member 2 pseudogene 2 7 7 7 64942718 64943755 + 71568157 71569194 + 72103172 72104209 + 100422059 ABBA01064008;AC004845;AMYH02016006;CH236952;NG_026596 pseudo HGNC:48842 INFERRED 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 4 q31 143346498 143378018 + 146019156 146050676 + 145098004 145129524 + 6480464;8554872 11585831;11780123;12477932;12578357;12600646;14747530;15107989;15489334;15809757;16196087;16275648;16344560;17222823;17233757;18006034;18189233;19020832;19343046;19615732;19657357;19946888;20122402;20372810;21139048;21145461;21448132;21543480;21890473;21906983;21963094;21987572;22004035;22053931;22267055;22268729;22505724;22586326;22623428;22678362;22851315;22863883;23008114;23125841;23266104;23305486;23455922;23891004;24244333;24457600;24623418;24778252;24816145;25015289;25027693;7539425;8641422;8838820;9660177;9847332;9877446 6059 D6R9I9;D6RGF4;H0Y990;P61221 AB062293;ABBA01070024;AC096757;AK315198;AMYH02010248;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;RNS4I;huHP68 2'-5'-oligoadenylate-binding protein;ATP-binding cassette sub-family E member 1;OTTHUMP00000220305;OTTHUMP00000220421;RNASELI;RNase L inhibitor;ribonuclease 4 inhibitor;ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) inhibitor APPROVED protein-coding ENSG00000164163 HGNC:69 03132 601213 REVIEWED 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 7 q36 145462282 145481675 - 150904923 150924460 - 151207830 151227374 - 1580863;6480464;8554872 10581359;10922475;10944468;11124703;11435397;12477932;12690205;12840015;12853948;15231747;15489334;15790807;16009940;16203778;16996567;18781797;19002184;19343046;19946888;20877624;21139048;21890473;21906983;21963094;21987572;21988832;22053931;22252987;22268729;22504420;22505724;22863883;22939629;23000965;23382691;23862649;24654937;24816145;25027693;8894702;9878413 10061 C9JHK9;C9JZV3;Q9UG63 AACC02000108;ABBA01035160;ABBA01035161;AC021097;AF091073;AF261091;AF261092;AJ005016;AL050291;AMYH02017071;BC001661;BG720644;BT007451;CH471173;CR987440;HY165500;NM_005692;NM_007189;XM_005249931;XM_006715824 AAC72942;AAG13902;AAG13903;AAH01661;AAP36119;AAS00378;AAS00379;ABM83230;ABM86429;CAA06290;CAB43392;EAL24507;EAL24508;EAW54013;EAW54014;EAW54015;EAW54016;EAW54017;NP_005683;NP_009120;Q9UG63;XP_005249988;XP_006715887 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 HGNC:71 12403 612510 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 14 q24.3 54789295 54807078 - 74751980 74769767 - 74285277 74303064 - 1580863;6480464;8699517;7240710;8554872 12111378;12477932;14533738;15800013;15909363;16169070;16344560;18029348;19343046;20301503;20661612;21139048;21514256;21906983;22922874;8889548;9266848;9302272;9521874;9599016 5826 E9PI46;E9PPB6;G3V3W1;G3V4U7;H0YCY9;H0YJ78;H0YJ82;H0YJL8;H0YJX8;O14678 ABBA01030724;AC005519;AF009746;AK291332;AK297934;AK308382;AMYH02029514;BC012815;BF062605;BI916327;BM667379;BQ893869;BT007412;BX247984;BX248053;CH471061;CQ798278;CR457104;DA713794;DA799558;DC332064;NG_032875;NM_005050;NR_003256;XM_005267936;XM_005267938;XM_005267939;XM_005267940;XM_005267941;XM_005267942;XM_005267946;XM_005267949;XM_005267951;XM_005267952;XM_005267953;XM_005267954;XM_006720223;XR_245710;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;XP_005267993;XP_005267995;XP_005267996;XP_005267997;XP_005267998;XP_005267999;XP_005268003;XP_005268006;XP_005268008;XP_005268009;XP_005268010;XP_005268011;XP_006720286 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 HGNC:68 04446 603214;614857 REVIEWED 1347632 ABCG3 ATP-binding cassette, sub-family G (WHITE), member 3 10708515;11178751 64007 AF324242 HGNC:13883 1321386 ABCF3 ATP-binding cassette, sub-family F (GCN20), member 3 ENCODES a protein that exhibits ATP binding (inferred); ATPase activity (inferred); INVOLVED IN ATP catabolic process (inferred); defense response to virus (inferred); FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3,3',5-triiodo-L-thyronine; copper(II) chloride 3 3 3 q27.1 182345574 182353503 + 183903863 183911795 + 184186075 184194007 + 6480464 11435397;12477932;14702039;15489334;16159877;16169070;16344560;19471022;19946888;21139048;21906983;22053931;22268729;22472876;22863883;22939629;24052230;24250222;24457600;24816145;8894702 55324 F8WCU6;Q9NUQ8 ABBA01058455;AC131235;AK002060;AK024758;AK027288;AK092415;AK097073;AK126150;AK290106;AK299256;AK299433;AMYH02008301;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 HGNC: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 2 p21 43878347 43904690 - 44039611 44066039 - 43806130 43838900 - 1300331;1580863;1598659;1558629;1598662;1300236;6480464;6907045;7240710;8554872;8699517 11099417;12444248;14618236;16026620;16764892 11138003;11435688;11452359;11590207;11668628;11855938;11907139;12124998;12150943;12208867;12208868;12220438;12477932;14504269;14702039;14703505;15121760;15175352;15262185;15311998;15520451;15611112;15816807;15930516;15980630;16250035;16472606;16518588;16614398;16870176;16893193;16980816;17055487;17098593;17102949;17403900;17474147;17612515;17626266;17632509;17690481;17827468;18007013;18457353;18522623;18581044;18641716;18660489;18850127;18996102;19005228;19012522;19019257;19060911;19111681;19217458;19270375;19306529;19343046;19692220;19878569;19913121;19917453;19936222;19956635;20170916;20172523;20210363;20370913;20403997;20413122;20467438;20497293;20521169;20581104;20602615;20628086;20679960;20686565;20855565;22655090;22898925;23179156;23556150;23790976;24097068;24498041;24584735;24623560;24657701;9727073 64240 E5RFY8;E5RHB7;E7EX35;Q9H222 ABBA01075097;AC011242;AC108476;AF312715;AF320293;AF404106;AF404107;AK091997;AMYH02003699;BC111541;BC111542;CH471053;NG_008883;NM_022436;XM_005264480;XM_005264481;XM_006712073;XM_006712074 AAG40003;AAG53099;AAI11542;AAI72287;AAK85387;AAK85388;AAY14703;AAY24010;EAX00286;EAX00287;EAX00288;NP_071881;Q9H222;XP_005264537;XP_005264538;XP_006712136;XP_006712137 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 HGNC: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 21 q22.3 28767307 28866320 + 43619799 43724497 + 42199689 42297244 + 1580863;1300235;6480464;8554872 10639163 10799558;10830953;10950923;11072082;11162488;11279031;11350058;11500512;11590207;12032171;12477932;14702039;15240127;15489334;15492319;15584507;15994327;16024918;16054053;16357317;16556852;16702602;16730733;16780588;16857950;16870176;16902247;17020879;17082211;17121837;17141191;17187964;17241464;17293612;17387528;17408620;17761632;17848583;18057374;18490524;18599800;18619413;18640393;18660489;18827283;19168441;19287193;19322201;19343046;19481530;19556716;19839639;19895785;19913121;19948975;20057170;20170916;20395595;20585627;20628086;20675829;20713650;20798376;20931526;21111593;21289254;21295304;21722899;21817095;21821149;21978921;22155456;22353356;22365996;22466164;22503545;22505724;22614118;22753765;22772754;22872754;23139370;23172659;23402987;23564066;23770099;23880356;23897420;23990020;24192121;24212237;24320932;24393350;24500716;24529757;24576892;24901717;8619474;8659545;8703120;9034316;9110174 9619 C9JKD9;E9PGV9;P45844 AB038161;ABBA01014173;ABBA01014174;AF038175;AF086547;AF323658;AF323660;AF323661;AF323662;AF323663;AF323664;AJ289137;AK092959;AK292152;AK298491;AL355688;AL355711;AL833689;AMYH02037871;AP001622;AP001623;AP001746;AY048757;BC029158;BX537588;CH471079;KC877901;KC877905;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;Hs.418279 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 HGNC:73 04355 603076 REVIEWED 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 11 q23.3 116179542 116193169 + 119019750 119033375 + 119149040 119162666 + 1580863;6480464 11435397;11606068;11856881;12137944;12183068;12477932;15240127;15489334;16344560;16682745;16870176;16902247;18508037;18660489;18668433;19343046;19913121;19948975;20628086;22391220 64137 E9PJ00;Q9H172 ABBA01039678;AJ300465;AJ308237;AJ308238;AJ308251;AK289830;AK290035;AK308673;AL137563;AMYH02025663;AP002956;AY055472;BC041091;CH471065;DA093690;DA241043;KF511131;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 HGNC:13884 12130 607784 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 + 27346632 27353680 + 27123764 27130991 + 6480464 11922611;12477932;12735795;14702039;15489334;15815621 84696 C9J8C2;F8WBB3;Q96SE0 ABBA01045194;ABBA01045195;AC013403;AK074615;AK093447;AMYH02003472;AY033290;BC028378;BC031868;BC039576;BC056403;CH471053;DB455979;KF459617;NM_032604;XR_244963;XR_244964;XR_244966 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 HGNC:17553 07468 612195 REVIEWED 1352615 ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) 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 4 q22 86303350 86371627 - 89011416 89152569 - 88090264 88231417 - 1580863;2315573;2315584;2315568;2315569;2315580;2315587;2316977;5135288;6480464;6484113;6907045;7240710;8552693;8554872 11948115;15906349;16190927;17353665;17915193;18451542;19152228;19733976;23462933 10070941;11306452;11309308;11533706;11566359;11590207;11688982;11801536;11807788;11986944;12054514;12111378;12145683;12208758;12369998;12374800;12393637;12429862;12438926;12459192;12477932;12479221;12576456;12604403;12668685;12682043;12741957;12810652;12874005;12958161;12960109;14566825;14576842;14613996;14702039;15001581;15014021;15014037;15027118;15044468;15146167;15170677;15208643;15229462;15251980;15252757;15260487;15355921;15475413;15489334;15557326;15598974;15607361;15618737;15625123;15670731;15769853;15801936;15807535;15811555;15811951;15813675;15838659;15899516;15917307;15961534;16008690;16024622;16041239;16086592;16108826;16146333;16160819;16278376;16278398;16343180;16367905;16402910;16445700;16460798;16505951;16528971;16543472;16554028;16612649;16618113;16704962;16707421;16749862;16791115;16815914;16847575;16870176;16954373;16960658;17032904;17098188;17148776;17228519;17229149;17237154;17273774;17275084;17297656;17312388;17323127;17340137;17347325;17373578;17380269;17434155;17438106;17445775;17460607;17481587;17494054;17505995;17518356;17519960;17534875;17569884;17595345;17622941;17627617;17662239;17671398;17682070;17686774;17690695;17701580;17851787;17875533;17916067;17923155;17925548;17927879;17934801;17938326;17938643;17975119;17976197;18042733;18055445;18056989;18094074;18159130;18167504;18180275;18200595;18207572;18221820;18237272;18240903;18245481;18249138;18255023;18256692;18309947;18315895;18370855;18382425;18392808;18408567;18429968;18430864;18509645;18558430;18559609;18573883;18588889;18644784;18668433;18681776;18695635;18702307;18710444;18725232;18775442;18793608;18806751;18820285;18823676;18824712;18829547;18834626;18838068;18841444;18841445;18951337;18958403;18981009;18991020;19023099;19032367;19052456;19063604;19074750;19101070;19107936;19114588;19131524;19139722;19141860;19165709;19167193;19172464;19188929;19232821;19240161;19251825;19277036;19333723;19340456;19343046;19349540;19367293;19403814;19406100;19421150;19442037;19474787;19477032;19503597;19506252;19514121;19523815;19541926;19546880;19567678;19584153;19593328;19605531;19622290;19629677;19636001;19642144;19670287;19672972;19691360;19696792;19708828;19713741;19728910;19751749;19771428;19782739;19782742;19785662;19825807;19842935;19878569;19885582;19890391;19898482;19909340;19913121;19921266;19924384;19930591;19940551;19956635;19967559;19969351;20019844;20035425;20053405;20088606;20103600;20109342;20130569;20139978;20162742;20162743;20171362;20182906;20200437;20203106;20207952;20304939;20307139;20332504;20360068;20368174;20389299;20399185;20421215;20437864;20453000;20460431;20472486;20492723;20530282;20562004;20570348;20592365;20600004;20604570;20626554;20628086;20663031;20670164;20679960;20682644;20691148;20701289;20705604;20705611;20714133;20717756;20720558;20728430;20739628;20804740;20839930;20846001;20857515;20858603;20858845;20884846;20885358;20922799;20936466;20950350;20959405;20972558;20975373;21054463;21072184;21091277;21106767;21111494;21132002;21133588;21154157;21184741;21219875;21245102;21321273;21321274;21323575;21332310;21365123;21421882;21445088;21449672;21455636;21459080;21465479;21487020;21523728;21526180;21531129;21625222;21630164;21640380;21707071;21712253;21718815;21731744;21748335;21774076;21775706;21827403;21854076;21859328;21864296;21878538;21884202;21918980;21922333;21935580;21943158;21943250;21956451;21963094;21971989;21983786;22004608;22062654;22093699;22112610;22116099;22132962;22132963;22132966;22161105;22182917;22193459;22209971;22229870;22236447;22241070;22246505;22246507;22266374;22331829;22340044;22340101;22342288;22348008;22360504;22391220;22395309;22401348;22452996;22473764;22497316;22515119;22521463;22521545;22525603;22581381;22587765;22632055;22673043;22736306;22750628;22752253;22797727;22800348;22845311;22851001;22870247;22882086;22887864;22922104;22925688;22937733;22952907;22959800;23047249;23064961;23065526;23069916;23092328;23118302;23150485;23153455;23166586;23169446;23238572;23240156;23244569;23262099;23263486;23274176;23280364;23287578;23301671;23317196;23342897;23381786;23385102;23394449;23402418;23435138;23438193;23467750;23469685;23490381;23493553;23534833;23539627;23544272;23552988;23558935;23569176;23603434;23619912;23622764;23623923;23650051;23665398;23665760;23713577;23774753;23778707;23780685;23790363;23800412;23827160;23827224;23838136;23838170;23868912;23879965;23930675;23960095;23962445;23984415;23993855;23996530;24013576;24024895;24030729;24032744;24094238;24107928;24151392;24269555;24297888;24324065;24338217;24380367;24382439;24388985;24391798;24456066;24469953;24718721;24872134;8894702;9850061;9861027;9892175 9429 H0YAF1;H0YAF3;Q9UNQ0 AB051855;AB056867;ABBA01063543;ABBA01063544;ABBA01063545;ABBA01063546;AC084732;AC097484;AF093771;AF093772;AF098951;AF103796;AF463519;AK002040;AK290000;AMYH02009686;AMYH02009687;AMYH02009688;AMYH02009689;AMYH02009690;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;XM_005263354;XM_005263355;XM_005263356 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;XP_005263411;XP_005263412;XP_005263413 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;urate exporter APPROVED protein-coding ENSG00000118777 HGNC:74 04783 138900;603756;614490 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 2 p21 43904835 43944326 + 44066103 44105947 + 43838964 43878808 + 1300331;1601097;1580863;631968;1558629;1598662;1601095;1601094;1300237;6480464;6907045;7240710;8554872;8699517 11099417;11452359;11901146;12671028;14618236;15331430;15816807;16764892 11590207;11668628;11893785;12111378;12124998;12150943;12208867;12208868;12220438;12477932;14504269;14703505;15175352;15262185;15311998;15520451;15611112;15930516;16472606;16518588;16870176;16893193;16980816;17055487;17098593;17102949;17403900;17612515;17626266;17632509;17690481;17827468;18007013;18457353;18522623;18581044;18641716;18660489;18676680;18850127;18977479;19005228;19012522;19018975;19019257;19056482;19060906;19060911;19111681;19170196;19217458;19270375;19306529;19343046;19692168;19692220;19878569;19936222;20163776;20170916;20172523;20210363;20235787;20370913;20379614;20403997;20413122;20497293;20529992;20581104;20592455;20594224;20679960;20686565;20837016;20854103;21039838;21062971;21274884;21988832;22378727;22548731;22655090;22869156;22898925;23179156;23241408;23406058;23556150;23707316;23726366;23790976;23840693;24097068;24584735;24657701 64241 Q96A01;Q9H221 ABBA01075097;AC108476;AF320294;AF324494;AF351824;AF404106;AF404107;AMYH02003699;AMYH02003700;BC113657;BC143564;CH471053;NG_008884;NM_022437;XM_005264483;XM_006712075 AAG40004;AAI13658;AAI43565;AAK84078;AAK84663;AAK85386;AAK85389;AAY24011;ADR83246;EAX00285;NP_071882;Q9H221;XP_005264540;XP_006712138 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;sterolin 2;sterolin-2 APPROVED protein-coding ENSG00000143921 HGNC:13887 05679 210250;605460;611465 REVIEWED 6481284 ABHD11-AS2 ABHD11 antisense RNA 2 100874076 AC073846 APPROVED miscrna HGNC:40012 1342590 ABHD11-AS1 ABHD11 antisense RNA 1 (tail to tail) 7 7 7 q11.23 68627587 68628518 + 73149399 73150330 + 73735069 73736000 + 18398435;24984296 171022 ABBA01063941;AC073846;AMYH02016029;CV575750;HG500331;NR_026690 Hs.650513 1697940 RH102499 LINC00035;NCRNA00035;WBSCR26 APPROVED ncrna ENSG00000225969 HGNC:18289 612545 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 + 111697723 111712215 + 111978876 111993368 + 737633;1580863;6480464;8554872 12477932 11076863;11256614;14702039;15489334;15489336;16381901;19322201;20000738;20379614;20562859;20877624;21078990;21139048;21832049;21890473;21906983;22294686;22400490;22813719 55347 F8WBJ5;F8WBQ6;Q9NUJ1 ABBA01061669;AC060225;AK002204;AK093591;AK300018;AL713726;AMYH02007436;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.477115 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 HGNC:25656 07751 REVIEWED 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 - 73150424 73153190 - 73736094 73738860 - 6480464 11076863;12073013;12477932;12853948;15489334;15489336;15498874;16381901;17567985;20877624;21596165;21832049;21890473;21906983;24583282;24654937 83451 C9J7Q4;D3DXF2;H0YC52;H7BZ58;H7C396;Q8NFV4 ABBA01063941;AC073846;AF217971;AF412030;AF412031;AF412032;AI401767;AMYH02016029;AY053499;AY053500;BC008251;BC011712;BC067750;BG722364;BM557977;BP423415;BP872816;BU189995;CB998040;CH471200;DB460434;DR006453;NM_001145364;NM_001301058;NM_148912;NM_148913;NR_026910;NR_026912;XM_006716143;XM_006716144;XM_006716145;XR_428186 AAG17214;AAH08251;AAH11712;AAH67750;AAL14848;AAL14849;AAM62312;AAM62313;AAM62314;AAS07472;ABM82430;ABM85622;CAL37753;CAL38343;EAW69642;EAW69643;EAW69644;EAW69645;EAW69646;EAW69647;NP_001138836;NP_001287987;NP_683710;NP_683711;Q8NFV4;XP_006716206;XP_006716207;XP_006716208 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 HGNC:16407 15658 REVIEWED 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 - 25275379 25371618 - 25294743 25390982 - 6480464;7240710;8554872;8699517 11780052;12477932;14702039;15489334;16303743;17207965;20797687;21890473;22001757;22938382;22969151;23490117;24027063;24654937 26090 I3L1V0;I3L206;I3L294;I3L380;I3L440;Q5T712;Q8N2K0 ABBA01048723;ABBA01048724;ABBA01048725;ABBA01048726;ABBA01048727;ABBA01048728;ABBA01048729;AK075023;AK290815;AK293495;AL117442;AL121772;AL353812;AMYH02036846;AMYH02036847;AMYH02036848;BC014049;BQ574269;BQ672998;BQ961739;CH471133;NG_028119;NM_001042472;NM_015600;XM_005260698;XM_005260699;XM_005260700 AAH14049;ADQ32650;BAC11357;BAF83504;BAG56982;CAB55927;EAX10088;EAX10089;EAX10090;NP_001035937;NP_056415;Q8N2K0;XP_005260755;XP_005260756;XP_005260757 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 HGNC:15868 07094 612674;613599 REVIEWED 1318018 ABHD13 abhydrolase domain containing 13 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; 2-methoxyethanol (ortholog) 13 13 13 q33.3 89715507 89731348 + 108870763 108886603 + 108218415 108234255 + 6480464 12477932;14702039;15057823;15489334;16303743;18951430;19773279;19946888 84945 Q7L211 ABBA01027024;AK027812;AK124864;AL157762;AMYH02028679;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 HGNC:20293 12618 VALIDATED 1349841 ABHD12B abhydrolase domain containing 12B ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH fonofos; parathion; terbufos 14 14 14 q22.1 31205922 31238736 + 51338878 51371688 + 50872160 50904970 + 6480464;8554872 12477932;14702039;15489334;18029348 145447 Q7Z5M8 ABBA01018146;AK128464;AL358334;AMYH02029172;AY311396;AY311397;AY311398;AY311399;BC034603;BC107141;BC107142;CH471078;NM_001206673;NM_181814;XM_005267356;XM_005267357;XM_006720052 AAH34603;AAI07142;AAI07143;AAP78476;AAP78477;AAP78478;AAP78479;BAC87452;EAW65688;EAW65689;EAW65690;EAW65691;NP_001193602;NP_861535;Q7Z5M8;XP_005267413;XP_005267414;XP_006720115 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 HGNC:19837 VALIDATED 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 3 p 52009042 52023218 + 51975026 51989202 + 6480464;8554872 20967262 100526760 C9JMV9;F2Z3Q0 ABBA01024516;AC115284;AK294015;AK298086;AMYH02006795;NR_037192 BAG57376;BAG60372 Hs.334707 1658480;1683279 RH11608;RH66446 FLJ60317;FLJ60467 APPROVED ncrna ENSG00000114786 HGNC:38856 VALIDATED 1603002 ABHD14B abhydrolase domain containing 14B ENCODES a protein that exhibits hydrolase activity; INVOLVED IN metabolic process; positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; cytosol; extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; cyclosporin A 3 3 3 p21.2 51981800 51987920 - 52002526 52008646 - 51968510 51974630 - 6480464;8554872 11053859;12477932;14672934;14702039;15489334;16303743;16344560;18029348;19056867;21139048;8889548 84836 B4DQI4;F8W9U3;Q96IU4;V9HW87 ABBA01024517;AC115284;AK075112;AK092152;AK096073;AK296599;AK298022;AK298813;AMYH02006795;BC007234;BC050650;BC056411;BC071931;BU732936;CH471055;CQ783024;CQ783152;CS072398;CS488917;DA315486;FJ224306;NM_001146314;NM_001254753;NM_032750 AAH07234;AAH50650;AAH56411;ACI45998;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;HEL-S-299;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;epididymis secretory protein Li 299 protein-coding HGNC:28235 17504 VALIDATED 1601874 ABHD14A abhydrolase domain containing 14A ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene diol epoxide I; cyclosporin A; diazinon 3 3 3 p21.1 51988316 51994490 + 52007700 52015216 + 51975026 51981200 + 6480464;8554872 12477932;12975309;14667578;15146197;15489334;22863883;24250222;8889548 25864 C9IYJ8;C9J7W8;C9JMW6;Q9BUJ0 ABBA01024516;AC115284;AK308592;AL050015;AMYH02006795;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 HGNC:24538 08530 VALIDATED 2292190 ABHD17AP3 abhydrolase domain containing 17A pseudogene 3 1 1 1 q41 188002197 188005984 - 214778800 214782546 - 214605457 214609203 - 21139048;21890473;21906983 648359 ABBA01048143;AL445305;AMYH02002665;NG_030366 FAM108A4;FAM108A4P family with sequence similarity 108, member A4 APPROVED pseudo HGNC:34041 INFERRED 1320221 ABHD16B abhydrolase domain containing 16B ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH calcitriol; paracetamol; testosterone 20 20 20 q13.33 59176749 59178524 + 62492566 62494341 + 63861213 63862988 + 6480464 11780052;12477932;15489334;18976975;23535732;8889548 140701 Q96F95;Q9H3Z7 ABBA01021427;AL118506;AMYH02037475;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 HGNC:16128 12746 VALIDATED 1604668 ABHD17AP1 abhydrolase domain containing 17A pseudogene 1 1 1 1 q21.2 1579 2588 + 147618345 147622067 + 148146066 148149788 + 16710414 728917 AC239803;AL049742;BX842679;NG_011738 ABHD17AP2;C1orf47;FAM108A11P;FAM108A2;FAM108A3;FAM108A3P APPROVED pseudo HGNC:28394 INFERRED 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 - 31654726 31671137 - 31686949 31703360 - 1580863;6480464 12477932;12665801;14574404;14656967;14667819;14702039;15231747;15342556;15489334;15498874;17461779;18835879;19115949;19116923;19423540;19851445;20406964;20438785;20626023;20706999;21044367;21890473;21987572;23000965;2813433;2911734 7920 B3KNX9;B7Z8I9;F2Z3G6;F2Z3H2;F2Z3Q3;O95870 ABBA01038084;AF129756;AF193047;AI076373;AK001207;AK023194;AK025398;AK055255;AK289469;AK297712;AK303496;AK308573;AL662899;AL670886;AL805934;AMYH02013452;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 G5 APPROVED protein-coding ENSG00000204427 HGNC:13921 15929 142620 REVIEWED 1605591 ABHD15 abhydrolase domain containing 15 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH arsenite(3-); ethyl methanesulfonate; formaldehyde 17 17 17 q11.2 24748479 24754842 - 27887679 27894042 - 29560661 29567024 - 6480464;8554872 12477932;12975309;14702039;19946888 116236 Q6UXT9 ABBA01015016;AC104564;AK055889;AK056717;AMYH02033251;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 HGNC:26971 14014 VALIDATED 2293157 ABHD17AP4 abhydrolase domain containing 17A pseudogene P4 22 22 22 q11.21 4512838 4516580 - 21021885 21025627 - 20667597 20671339 - 10591208 729495 ABBA01015449;AC007050;AMYH02038078;CH471176;NG_023156 EAX02943 FAM108A5;FAM108A5P APPROVED pseudo HGNC:34042 INFERRED 1347246 ABHD17A abhydrolase domain containing 17A ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN membrane; INTERACTS WITH arsane; arsenic atom; elemental selenium 19 19 19 p13.3 1811047 1819590 - 1876975 1885518 - 1876976 1885519 - 737633;6480464 12477932 14702039;16303743;16344560;19946888;21890473;21906983;22505724;23000965;23088713 81926 K7ENJ6;K7EQ25;Q96GS6 ABBA01002691;AC012615;AK024419;AK074043;AK074548;AK090438;AK289533;AMYH02035171;AX468406;BC000158;BC009256;BC011667;BC020512;BC033749;BC035961;BC050605;BC071644;BC071876;BC094816;CH471139;CQ782500;DB025570;NM_001130111;NM_031213;XM_006722918 AAH00158;AAH09256;AAH11667;AAH20512;AAH33749;AAH35961;AAH71644;AAH71876;AAH94816;BAB15709;BAB84869;BAC03419;BAC11052;BAF82222;CAD42560;CAF85784;EAW69440;EAW69441;EAW69442;EAW69443;EAW69444;EAW69445;EAW69446;EAW69447;NP_001123583;NP_112490;Q96GS6;XP_006722981 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 HGNC:28756 07475 VALIDATED 3207450 ABHD17AP7 abhydrolase domain containing 17A pseudogene 7 16 16 p11.2 32737932 32740871 - 32726611 32729550 - 100133212 AC138907;NG_022980 FAM108A8P APPROVED pseudo HGNC:38508 INFERRED 3418290 ABHD17AP9 abhydrolase domain containing 17A pseudogene 9 16 16 p11.2 33152189 33155344 + 33140868 33144023 + 100132251 ABBA01158098;AC138869;AC145350;NG_028293 FAM108A10P APPROVED pseudo HGNC: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 - 22471874 22472374 - 22117481 22118005 - 10591208;9074928 91219 ABBA01055079;AC245517;D86997;D88269;NG_000002 FAM108A6;FAM108A6P APPROVED pseudo HGNC:34043 REVIEWED 2859282 ABHD17AP8 abhydrolase domain containing 17A pseudogene 8 16 16 p11.2 32211210 32214143 + 32199889 32202822 + 647144 AC133485;AMYH02031861;NG_023021 FAM108A9P APPROVED pseudo HGNC:38509 INFERRED 3378585 ABHD17AP6 abhydrolase domain containing 17A pseudogene 6 17 17 17 p11.2 21794095 21797884 - 20744000 20747792 + 20840687 20844479 + 644988 ABBA01050452;AC090774;AMYH02033192;NG_022988 FAM108A7P APPROVED pseudo HGNC:34044 INFERRED 1313162 ABHD17B abhydrolase domain containing 17B ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN membrane; INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; formaldehyde 9 9 9 q21.13 45050096 45098877 - 74477368 74526148 - 71862452 71911233 - 737633;6480464 12477932 10810093;15164053;15489334;19946888;21139048;21906983;22505724 51104 Q5VST6 ABBA01033843;AF151825;AI564777;AK293060;AL138751;AL671309;AMYH02020970;AMYH02020971;BC038390;BC044576;BG720713;CH471089;NM_001025780;NM_016014;XM_006717134;XM_006717135 AAD34062;AAH38390;AAH44576;BAF85749;EAW62521;EAW62522;NP_001020951;NP_057098;Q5VST6;XP_006717197;XP_006717198 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 HGNC:24278 12978 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 + 89631381 89745591 + 89088150 89202360 + 1580863;6480464 11922611;12477932;14702039;15489334;16344560;16751776;17980156;18029348;20007591;21890473;21906983;21963094;22505724;23000965;23251661;2843827;8125298 11057 H3BMT2;H3BN19;H3BUZ6;P08910 ABBA01053004;ABBA01053005;ABBA01053006;AC013565;AC124068;AF546700;AI916724;AI918734;AK000554;AK095685;AK125089;AK127559;AK222841;AK223083;AK290340;AK296827;AL109729;AL110291;AMYH02031017;AMYH02031018;BC017905;BC019248;BC090052;BI459790;BI464471;CH471101;CR749694;DB024314;DB049736;DC369843;DC397201;DQ574578;DQ576078;NM_007011;NM_152924;X12433;XM_005254832;XM_005254833 AAH19248;AAH90052;AAQ12021;ABM82555;ABW03395;BAD96561;BAD96803;BAF83029;BAG59397;CAA30976;EAX02033;EAX02034;EAX02035;NP_008942;NP_690888;P08910;XP_005254889;XP_005254890 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 APPROVED protein-coding ENSG00000140526 HGNC:18717 09791 612196 REVIEWED 1603613 ABHD17C abhydrolase domain containing 17C ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH afimoxifene; benzo[a]pyrene diol epoxide I; copper atom 15 15 15 q25.1 57925147 57985463 + 80987635 81047962 + 80695311 80755621 + 6480464 12477932;14702039;21139048;21906983;21963094;22542470 58489 H0YN98;Q6PCB6 ABBA01060630;ABBA01060631;AC023302;AK091780;AK092758;AK298606;AL390079;AMYH02030887;AMYH02030888;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 HGNC: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 - 19230858 19284766 - 21650897 21704805 - 6480464 11922611;12477932;15489334;16344560;17207965;21890473;21906983;21963094;22359512;8619474;9110174 171586 J3KSP1;J3KTE1;J3QQR0;J3QR14;Q8WU67 ABBA01022676;ABBA01022677;ABBA01022678;AC106037;AF007152;AK024880;AK024992;AK298728;AMYH02034381;AMYH02034382;BC021196;CH471088;DB126083;EF444943;NM_138340;XR_243847;XR_430071 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 HGNC:18718 12405 612197 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 3 p21 43670699 43702531 + 43732375 43764217 + 43690883 43722725 + 1598668;1580863;6480464;7240710;8554872;8699517 11590543 10810093;12477932;15136565;15489334;15967942;16679289;17308334;17495960;17631826;18339307;18606822;18832586;19061969;19401457;20307695;20370797;20467438;20520629;21122093;21139048;21757733;21963094;22245374;22373837;22383684;23297223;23557589;24250222;8619474;9110174 51099 C9J1D1;C9JBM3;F8W7B5;H7BZY9;Q8WTS1 ABBA01024758;AC105903;AF007132;AF151816;AK313811;AL606838;AMYH02006640;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 HGNC:21396 05308;11986 275630;604780 REVIEWED 1351429 ABHD6 abhydrolase domain containing 6 ENCODES a protein that exhibits acylglycerol lipase activity (inferred); INVOLVED IN long term synaptic depression (inferred); metabolic process (inferred); negative regulation of cell migration (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate 3 3 3 p14.3 58237772 58295009 + 58223233 58280463 + 58237506 58294738 + 6480464 12477932;14702039;15489334;16344560;18360779;19793082;21139048;21906983;21988832;22505724;22827915;22969151;24390342;8125298 57406 C9J010;C9JNE7;F8WBP4;Q9BV23 ABBA01024391;ABBA01024392;AC098479;AC137936;AF225418;AK122983;AK172797;AK225942;AK313168;AMYH02006887;AX134787;BC001698;CH471055;DA266414;NM_020676;XM_005265334;XM_005265335;XM_005265336 AAG09720;AAH01698;BAD18771;BAG35986;BAG53832;CAC39533;EAW65360;EAW65361;EAW65362;EAW65363;EAW65364;EAW65365;NP_065727;Q9BV23;XP_005265391;XP_005265392;XP_005265393 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 HGNC:21398 12407 VALIDATED 1351473 ABI1P1 abl-interactor 1 pseudogene 1 14 14 14 q22.3 36062590 36066392 + 56013277 56017081 + 55546559 55550363 + 326268 ABBA01018212;AL138499;AMYH02029241;NG_002531 1731627 D14S178 ABI1P;SSH3BP1P APPROVED pseudo HGNC:20035 INFERRED 1323534 ABHD4 abhydrolase domain containing 4 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN lipid catabolic process (inferred); metabolic process (inferred); INTERACTS WITH benzo[a]pyrene; cobalt dichloride; copper atom 14 14 14 q11.2 2930195 2944309 + 23067147 23081265 + 22598238 22612359 + 1580863;6480464 12477932;14702039;15489334;16818490;18029348;21139048;21890473;21900206;21963094;22488300;23000965 63874 B4DDH7;F5GZC9;F5H067;F5H6T0;H0YFD5;J3KMW0;Q8TB40 ABBA01061280;AC243965;AK022878;AK024790;AK293198;AK298127;AK301315;AL160314;BC024779;CH471078;NM_022060;XM_005267986;XR_245712 AAH24779;BAB14289;BAG56738;BAG60407;BAG62866;EAW66251;NP_071343;Q8TB40;XP_005268043 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 HGNC:20154 12406 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 10 p11.2 26743902 26858351 - 27035525 27150016 - 26746596 26861087 - 6480464;6484113 1049958;10499589;10995551;11003655;11034908;11099046;11418237;11516653;11557983;11956071;12011975;12127568;12477932;12522270;12547160;12665801;12672821;12681507;14565974;15032605;15048123;15164054;15289329;15489334;15591787;15657136;15696170;15769844;15893754;16055720;16182283;16225669;16344560;16385451;16417406;16899465;17081983;17101133;17395426;17501982;17943163;17951403;18328268;18560548;19056867;19158278;19554484;19843640;20110575;20137729;20193272;20368287;20479892;20598684;21046228;21078624;21118970;21139048;21320496;21875946;21900237;21988832;22014333;22430194;22505724;22808230;22939629;23740246;24250222;24816145;8943360;9010225;9593709;9694699 10006 B6VEX3;B6VEX4;B6VEX5;F5H1G9;F8WA55;Q8IZP0 AB040151;AB209268;ABBA01034409;ABBA01034410;ABBA01034411;ABBA01034412;AF001628;AF006516;AF260262;AF540955;AJ277065;AK126803;AK291823;AK296751;AK298646;AK315914;AL139404;AL390961;AMYH02022500;AMYH02022501;AMYH02022502;AMYH02022503;AMYH02022504;AMYH02022505;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;XM_005252332;XM_005252333;XM_006717359;XM_006717360;XM_006717361 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;XP_005252389;XP_005252390;XP_006717422;XP_006717423;XP_006717424 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;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 HGNC:11320 04336 603050 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 - 17402940 17414282 - 17292131 17303473 - 737633;1580863;6480464 12477932 14702039;15489334;16344560;20852631;8125298 79575 B2C6G3;M0QX40;M0QZA8;Q96I13 ABBA01051191;ABBA01051192;AC010463;AK021805;AK225140;AK225340;AK298251;AK315366;AMYH02035701;AMYH02035702;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 HGNC:23759 12409 VALIDATED 1353143 ABI2 abl-interactor 2 ENCODES a protein that exhibits proline-rich region binding; protein complex binding; Rac GTPase binding; INVOLVED IN cellular component movement; peptidyl-tyrosine phosphorylation; positive regulation of Arp2/3 complex-mediated actin nucleation; FOUND IN cytosol; filopodium; lamellipodium; INTERACTS WITH all-trans-retinoic acid; arsenous acid; benzo[a]pyrene diol epoxide I 2 2 2 q33 197986427 198051711 + 204192597 204296892 + 203327874 203432173 + 1580863;6480464 10498863;10858458;10964520;10995551;11516653;12011975;12463424;12477932;12569093;14702039;15146197;15489334;15509564;16189514;16344560;16488906;17043677;17101133;17389688;17903303;18632609;19158278;19523119;21139048;21862451;22094256;22304832;22505724;22745667;22863883;23000965;23444366;24816145;7590236;8649853 10152 B7Z836;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;AMYH02005594;AMYH02005595;AMYH02005596;AMYH02005597;BC001439;BC033944;BT009920;CH471063;CN371368;DA693234;DB455742;DC376086;NM_001282925;NM_001282926;NM_001282927;NM_001282932;NM_005759;R61525;U23435;U31089;X95632;XM_005246217;XM_005246218;XM_005246221;XM_005246222;XM_005246223;XM_005246224;XM_005246225;XM_005246226;XM_005246229;XM_006712174;XM_006712175;XM_006712176;XM_006712177;XM_006712178;XM_006712179;XM_006712180;XM_006712181;XM_006712182;XM_006712183;XM_006712184;XM_006712185;XM_006712186 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_001269854;NP_001269855;NP_001269856;NP_001269861;NP_005750;Q9NYB9;XP_005246274;XP_005246275;XP_005246278;XP_005246279;XP_005246280;XP_005246281;XP_005246282;XP_005246283;XP_005246286;XP_006712237;XP_006712238;XP_006712239;XP_006712240;XP_006712241;XP_006712242;XP_006712243;XP_006712244;XP_006712245;XP_006712246;XP_006712247;XP_006712248;XP_006712249 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;argBP1 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;argBPIA;argBPIB protein-coding ENSG00000138443 HGNC:24011 606442 VALIDATED 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 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 17 17 17 q21.3 43742068 43755066 + 47287589 47300587 + 49210227 49223225 + 6480464;8554872 10978530;11076863;11230166;11256614;11501947;11956071;12011975;12477932;15489334;15489336;16189514;16381901;17101133;19060904;19946888;21223585;23382691;23535732 51225 I3L1X2;I3L3W4;Q9P2A4 AA808681;AB037886;ABBA01041192;ABBA01041193;AC004797;AC069454;AL136709;AMYH02033562;BC007780;BI768790;CH471109;NM_001135186;NM_016428;XM_005257429 AAH07780;ABM84016;ABM87361;BAA90667;CAB66644;CAL37657;CAL37800;EAW94687;NP_001128658;NP_057512;Q9P2A4;XP_005257486 Hs.130719 NESH;SSH3BP3 ABI gene family member 3;ABI gene family, member 3;OTTHUMP00000220013;OTTHUMP00000220014;new molecule including SH3 APPROVED protein-coding ENSG00000108798 HGNC:29859 05900 606363 REVIEWED 1349467 ABI3BP ABI family, member 3 (NESH) binding protein ENCODES a protein that exhibits collagen binding (inferred); heparin binding (inferred); INVOLVED IN extracellular matrix organization (inferred); positive regulation of cell-substrate adhesion (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular matrix; extracellular space; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; chromium atom 3 3 3 q12 98859820 99104005 - 100468179 100712336 - 100749335 100993492 - 6480464;8554872 11501947;12477932;14702039;15489334;15752759;16205947;16344560;17314511;18559958;19240061;19338757;20936779;21041247;21988832;22952844;23829686;24236485;24442417 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;AMYH02007306;AMYH02007307;AMYH02007308;AMYH02007309;BC030221;BX648726;CH471052;DA342832;NM_015429;XM_005247281;XM_005247282;XM_005247283;XM_005247284;XM_005247285;XM_005247286;XM_005247287;XM_005247288;XM_005247289;XM_005247290;XM_005247291;XM_005247293;XM_005247294;XM_005247295;XM_005247296;XM_005247297;XM_005247298;XM_005247299;XM_005247300;XM_005247301;XM_005247302;XM_005247303;XM_005247305;XM_005247306;XM_005247307;XM_005247308;XM_005247309;XM_005247310;XM_005247311;XM_005247312;XM_005247313;XM_005247314;XM_005247315;XM_005247316;XM_005247317;XM_005247318;XM_006713568;XM_006713569;XM_006713570;XM_006713571;XM_006713572;XM_006713573;XM_006713574;XM_006713575;XM_006713576 AAH30221;ACE86781;ACE87467;BAB15083;BAB32867;BAC85685;BAC85687;BAG52776;BAG61771;CAB56034;CAI46190;EAW79804;EAW79805;EAW79806;EAW79807;EAW79808;EAW79809;EAW79810;EAW79811;NP_056244;Q7Z7G0;XP_005247338;XP_005247339;XP_005247340;XP_005247341;XP_005247342;XP_005247343;XP_005247344;XP_005247345;XP_005247346;XP_005247347;XP_005247348;XP_005247350;XP_005247351;XP_005247352;XP_005247353;XP_005247354;XP_005247355;XP_005247356;XP_005247357;XP_005247358;XP_005247359;XP_005247360;XP_005247362;XP_005247363;XP_005247364;XP_005247365;XP_005247366;XP_005247367;XP_005247368;XP_005247369;XP_005247370;XP_005247371;XP_005247372;XP_005247373;XP_005247374;XP_005247375;XP_006713631;XP_006713632;XP_006713633;XP_006713634;XP_006713635;XP_006713636;XP_006713637;XP_006713638;XP_006713639 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 HGNC:17265 09380 606279 VALIDATED 1352263 ABL2 ABL proto-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 1 q25.2 152177312 152307714 - 179068462 179198819 - 179099327 179229684 - 1580863;6480464;6907045;8554872 10521789;10590083;10706884;10892742;11278261;11494128;11956190;12198159;12220663;12374288;12406085;12477932;12522270;12569093;12748290;12777400;12893824;12950161;1383690;14702039;15489334;15679048;15729383;15735735;15765532;15886098;16273093;16344560;16678104;16710414;16751776;16964398;17081983;17192257;17474147;17910947;18067320;18330356;18660502;18810762;19275932;19380743;19913121;19953087;20077570;20150913;20448119;20467438;20628086;20800603;20936779;21257711;21543883;21892207;2198571;21988832;22036096;22777352;22974441;23552693;23648710;23707396;25036637;3787260;8125298;8700546;8875975;9211900;9480911;9642287;9774693 27 P42684 ABBA01027819;ABBA01027820;ABBA01027821;ABBA01027822;ABBA01027823;ABBA01027824;AK025877;AK056280;AK225255;AK309549;AK311045;AL139132;AL359179;AL512326;AMYH02002228;AMYH02002229;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;XM_005245088 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;XP_005245145 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;c-abl oncogene 2, non-receptor 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 HGNC:77 01259 164690 REVIEWED 1342972 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014] 9 9 9 q34.1 104127800 104301349 + 133588266 133763062 + 130713881 130887675 + 1580863;1598673;6480464;6484113;6907045;8693571;8693572;8662965;8699517;8693409;8693418;8693592;8693570 15629889;18559370;19700222;20679336;20823226;20883783;24412932;3021820 10187839;10194451;10212258;10372803;10391249;10391250;10391251;10455176;10488096;10567556;10571082;10574931;10608806;10629029;10635328;10637231;10679771;10688886;10708759;10713716;10753870;10777567;10829062;10837221;10849448;10892742;10896159;10945997;10967110;10970852;10988075;11021760;11024037;11071635;11120811;11121037;11163214;11266449;11278340;11279131;11309382;11350980;11374898;11375976;11380621;11390389;11418237;11420673;11423618;11431473;11494128;11494134;11509666;11593427;11598012;11708318;11741929;11779715;11780146;11781820;11790798;11827972;11840343;11853795;11891774;11955625;11956190;11971963;12021275;12024016;12107171;12110584;12130510;12130516;12138893;12144533;12149456;12167702;12198159;12220663;12374288;12374739;12379115;12379650;12384576;12393636;12408765;12445832;12468540;12475393;12477932;12505259;12522270;12525554;12543778;12556557;12560071;12569093;12573241;12623848;12626632;12637538;12650908;12654250;12663457;12665579;12672821;12681507;12764153;12777393;12777400;12781448;12810679;1281542;12824179;12890867;12893824;12921956;12928501;12944467;12950161;12952226;1379745;1383690;14527680;14534537;14581377;14604282;14657955;14670960;14679214;14708008;14725908;14745431;14966468;14993251;1505033;15143187;15175272;15361874;1538749;15481444;15542838;15556646;15583852;15588985;15591787;15608616;15626746;15657060;15657136;15661746;15686624;15696159;1571536;15716990;15723338;15735728;15735735;15857938;15886098;15923648;15937340;15961388;16014719;16091742;16135792;16151465;16158059;16199863;16205638;16219545;16273093;16386788;16410245;16448696;16543148;16630659;16636310;16648821;16678104;16723087;16831423;16867995;16888623;16899465;16912036;16955467;16966279;16998483;17081983;17101133;17126298;1712671;17129785;17160020;17192257;17196995;17237826;17252009;17254966;17268511;17303698;17339230;17347407;17349636;17352427;17366548;17374743;17409407;17470729;17470736;17474147;17486070;17525531;17541395;17570524;17579186;17587335;17597804;17599053;17604596;17620332;17623672;17626041;17638918;17695727;17710227;17761812;17762503;17764157;17768119;17804707;17888034;17889935;17893873;17925491;17928051;17943163;17956664;17972958;18029348;18036399;18059481;18067320;18070606;18082628;18089786;18095154;18155796;18161990;18180382;18235045;18262060;18280240;18287094;18305217;18305550;18328268;18339898;18362889;18369471;18391983;18401414;18406870;18413724;18427551;18480060;18480061;18490454;18538733;18546844;18559503;1857987;18603549;18614052;18619508;1868241;18687796;18704194;18765637;18771174;18775312;18784740;18794796;18809728;18827185;18835194;18936177;18950845;19001122;19016792;19020542;19048492;19052872;19061839;19075013;19108887;19124506;19135771;19156526;19180499;19203793;19234221;19260121;19261608;19275932;19285032;19290927;19295548;19332026;19357699;19363261;19369965;19380743;19383348;19423701;19427856;19442657;19531213;19542604;19557636;19571320;19608682;19625707;19643477;19652056;19657362;19658100;19660459;19679652;19697154;19724931;19738611;19768693;19789182;19818398;19823681;19829692;19833721;19876398;19891780;19897486;19906645;19914245;19931180;19953087;19954044;19968720;20007699;20010464;20038234;20056178;20073070;20079431;20082857;20124512;20152788;20201926;20234815;20367437;20425353;20452982;20453000;20482842;20512393;20563669;20581864;20585028;20585556;20595523;20598684;20629032;20633771;20675402;20697350;20697894;20717963;20724541;20798688;20861316;20863169;20937825;20974687;21045136;21071472;21072043;21129254;21156844;21183952;21203397;21209200;21220745;21221851;21239056;21248063;21266020;21320496;21321929;21368377;21388681;21435002;21454413;21455220;21461967;21480391;21504383;21527514;21591355;2163052;21641753;21674858;21693657;21694468;21715626;21764785;21781306;2179820;2183353;21888027;21892207;21900237;21903771;2193202;21935931;21960589;21961412;21998569;22001646;22014333;22038725;22054731;22089930;22140458;22184410;22231445;22233112;22238610;22252550;22311485;22314255;22327125;22327338;22334513;22378042;22380496;22447844;22454521;22462553;22471662;22526369;22590567;22591684;22593461;22632162;22649097;22665066;22693568;22733220;22782217;22783572;22787435;22833565;22847163;22865780;22870928;22879933;22939624;22939629;22952603;22957062;22974441;22976291;22988030;23009571;23044928;23053188;23062104;23062378;23065514;23087049;23117882;23124138;23130349;23146907;23171811;23201011;23207522;23223358;23269583;23277196;23287430;23289360;23289634;23303187;23316053;23318434;23319661;23325923;23383002;23428668;23433665;23448894;23458731;23513809;23575066;23602568;23667855;23691243;23716543;23723070;23740246;23749639;23788109;23799845;23831022;23840065;23842646;23852372;23872305;23892407;23894305;23928308;23934627;23950177;23959873;23974192;23980151;24041959;24112389;24140708;24177958;24190424;24223753;24262285;24269846;24317448;24392933;24421390;24456693;24550512;24775308;24779036;24856998;24891505;24903628;25036192;25045550;25068103;25074247;25248240;2542016;2678002;2687768;2825022;2989692;2989703;3021337;3023859;3313010;3471171;4062888;6191223;6281890;6302194;6316147;6319012;6323103;7493940;7512963;7533294;7545908;7565761;7590236;7665185;7760813;7780740;7828850;7892170;7926767;7968380;8112292;8114715;8194526;8242749;8294442;8438166;8453102;8524328;8590002;8626527;8626543;8629002;8630736;8668148;8668151;8692915;8810278;8875975;8879209;8943360;8978305;9006901;9008161;9010225;9037071;9067577;9071815;9111318;9144171;9168116;9168117;9174058;9195915;9211900;9312071;9315092;9334312;9356459;9407116;9461559;9478921;9480911;9516488;9583676;9593709;9603926;9632734;9632788;9642287;9698566;9710592;9747873;9774693;9798959;9820532;9822717;9872323;9949177 25 P00519;Q13688;Q59FK4;R4GRW0 AA524892;AB209456;AB209642;ABBA01012061;ABBA01012062;ABBA01012063;ABBA01012064;ABBA01012065;ABBA01012066;ABBA01012067;AI458416;AK294983;AL161733;AL359092;AL707819;AMYH02021770;AMYH02021771;AMYH02021772;AMYH02021773;AMYH02021774;AMYH02021775;BC107069;BC107070;BC117451;CA335983;CH471090;DQ145721;FJ785401;JF272500;JX565024;JX565025;K00009;M14752;M14753;M14754;M25949;M30833;NG_012034;NM_005157;NM_007313;S69223;U07563;X16416;X51945 AAA35593;AAA51561;AAA51562;AAA51563;AAA51895;AAA88011;AAA88012;AAB60393;AAB60394;AAD14034;AAI07070;AAI07071;AAI17452;AAZ38718;ACN82441;ADX30694;AFV09100;AFV09101;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;c-ABL1;p150;v-abl Abelson tyrosine-protein kinase 1;OTTHUMP00000022375;OTTHUMP00000022376;bcr/c-abl oncogene protein;c-abl oncogene 1, non-receptor tyrosine kinase;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 HGNC:76 01809 189980 REVIEWED 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 - 116190869 116444762 - 114431110 114768609 - 1580863;6480464;8554872 12168954;12477932;14702039;15024025;15144186;15302935;15324660;15489334;15570572;15592455;15778465;16094384;16189514;16385451;16712791;17081983;17194709;17979178;20549515;20936779;20970119;21139048;21547531;21832049;22219177;23000965;23251661;24255178;24337577;24457600;7566098;7584044;8889548;9245787;9417918 3983 B3KSG3;B3KVH2;B4DQA3;B7Z4H1;F6XFR5;F8W8M4;H0Y3K7;H0Y7N6;J3QSX6;O14639;Q5JVV3;Q5T6N2;Q5T6N4 AA314019;ABBA01062975;ABBA01062976;ABBA01062977;ABBA01062978;AF005654;AI680726;AK054890;AK057834;AK058007;AK093471;AK098277;AK122891;AK297344;AK298709;AL133384;AL137025;AL354873;AL590109;AL600892;AL710059;AL712271;AMYH02023852;AMYH02023853;AMYH02023854;AMYH02023855;AW627433;BC002448;BE395092;BE672277;BG426037;BQ721521;CA450184;CB128609;CD558045;CH471066;CR749819;D31883;NG_029872;NM_001003407;NM_001003408;NM_002313;NM_006720;XM_005269818;XM_005269819;XM_005269820;XM_005269821;XM_005269822;XM_005269823;XM_005269824;XM_005269825;XM_005269826;XM_005269827;XM_005269828;XM_005269830;XM_006717837;XM_006717838;XM_006717839;XM_006717840;XM_006717841;XM_006717842;XM_006717843;XM_006717844;XM_006717845;XM_006717846;XM_006717847;XM_006717848 AAC51676;AAH02448;BAA06681;BAG52725;BAG53605;BAG53784;BAG60865;BAH12557;CAH18679;EAW49467;EAW49468;EAW49469;NP_001003407;NP_001003408;NP_002304;NP_006711;O14639;XP_005269875;XP_005269876;XP_005269877;XP_005269878;XP_005269879;XP_005269880;XP_005269881;XP_005269882;XP_005269883;XP_005269884;XP_005269885;XP_005269887;XP_006717900;XP_006717901;XP_006717902;XP_006717903;XP_006717904;XP_006717905;XP_006717906;XP_006717907;XP_006717908;XP_006717909;XP_006717910;XP_006717911 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 DKFZp781D0148;FLJ14564;KIAA0059;LIMAB1;MGC1224;abLIM-1 ABLIM;LIM actin-binding protein 1;LIMATIN;OTTHUMP00000020530;OTTHUMP00000020531;OTTHUMP00000020532;OTTHUMP00000020533;OTTHUMP00000020534;OTTHUMP00000020535;OTTHUMP00000020536;OTTHUMP00000020537;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 HGNC:78 03819 602330 REVIEWED 1349528 ABLIM2 actin binding LIM protein family, member 2 ENCODES a protein that exhibits actin binding (inferred); zinc ion binding (inferred); INVOLVED IN actin cytoskeleton organization (inferred); axon guidance (inferred); positive regulation of transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN actin cytoskeleton; INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic AMP; aflatoxin B1 4 4 4 p16.1 7868198 8052469 - 7967037 8160559 - 7965310 8158832 - 6480464;8554872 10737800;11347906;12477932;14702039;15489334;16005990;16344560;17194709;18029348;20379614;20936779;24250222;8889548;9847074 84448 D6RAL0;F5GYR0;Q6H8Q1 AB058711;ABBA01008684;ABBA01008685;ABBA01008686;ABBA01008687;ABBA01008688;AC097381;AC104650;AC114807;AJ748600;AJ748601;AK094754;AK094798;AK097003;AK130044;AK301060;AL834195;AMYH02008692;AMYH02008693;AMYH02008694;AMYH02008695;BC067214;BC122567;BE155865;BM718728;BQ005420;BQ267829;CH471131;DA392726;DB499366;DB570494;DQ413176;DQ413177;KF457731;NM_001130083;NM_001130084;NM_001130085;NM_001130086;NM_001130087;NM_001130088;NM_001286688;NM_032432;XM_005248014;XM_005248015;XM_005248016;XM_005248017;XM_005248018;XM_005248019;XM_005248020;XM_005248021;XM_005248022;XM_005248023;XM_005248024;XM_005248025;XM_005248026;XM_005248027;XM_005248028;XM_005248029;XM_005248030;XM_005248031;XM_006713921;XM_006713922;XM_006713923;XM_006713924;XM_006713925;XM_006713926;XM_006713927 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_001273617;NP_115808;Q6H8Q1;XP_005248071;XP_005248072;XP_005248073;XP_005248074;XP_005248075;XP_005248076;XP_005248077;XP_005248078;XP_005248079;XP_005248080;XP_005248081;XP_005248082;XP_005248083;XP_005248084;XP_005248085;XP_005248086;XP_005248087;XP_005248088;XP_006713984;XP_006713985;XP_006713986;XP_006713987;XP_006713988;XP_006713989;XP_006713990 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 HGNC:19195 612544 VALIDATED 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 + 148521054 148640002 + 149141491 149260439 + 1580863;6480464;8554872 10048485;11076863;11230166;12477932;15221005;15337165;15342556;15489334;15489336;16328021;16381901;17081983;17194709;8125298 22885 D6RHE7;O94929 AB020650;AB075881;ABBA01026307;ABBA01026308;ABBA01026309;ABBA01026310;AC012613;AC091940;AK098469;AK225769;AK289736;AL833021;AMYH02012441;BC001665;BC014463;BP285049;CH471062;DA669720;DQ413174;NM_001301015;NM_001301018;NM_001301027;NM_001301028;NM_014945;XM_005268392;XM_005268393;XM_005268394;XM_005268395;XM_005268396;XM_006714763;XM_006714764 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_001287944;NP_001287947;NP_001287956;NP_001287957;NP_055760;O94929;XP_005268449;XP_005268450;XP_005268451;XP_005268452;XP_005268453;XP_006714826;XP_006714827 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 HGNC: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 9 q34.2 106672476 106692536 - 136130563 136150630 - 133255176 133275214 - 1580863;2317512;2317510;5128834;2317511;5128835;5128831;5128832;5128833;5128836;6480464;6907045;2307071 15784866;16008680;18988797;19771478;20103627;20181960;2142987;6189297;7795450;9036208 10462501;10666229;11061869;11345596;11398963;11436564;11520811;11856466;11939260;11961233;11998221;12151392;12198488;12477932;12519432;12529355;12560669;12587416;12673421;12760254;12786998;12829588;1429528;1449469;14516453;14569463;14617382;14750174;14979340;15009807;15104652;15166945;1520322;15300625;15606555;15648786;15735796;15751650;15754970;15783300;15819453;15819691;15847653;15880137;15987364;16081582;16176058;16181218;16215642;16239542;16403294;16631357;16686845;16686846;16722361;16859949;16871363;16956829;17002642;17036929;17076855;17107352;17119126;17130965;17140342;17209060;17259183;17298125;17311872;17393014;17531777;17642512;17764507;17994314;18003641;18027815;18028481;18063521;18067076;18067502;18078207;18156754;18173836;18215251;18247104;18273824;18387978;184030;18426679;18464913;18521502;18600088;18604267;18651204;18680548;18712158;18940312;18976975;19054377;19078892;19110300;19169360;19276450;19278955;19470260;19474452;19490215;19648918;19729612;19913121;20003128;20017223;20066004;20139978;20147318;20154292;20167578;20197725;20231535;20371059;20373852;20456702;20459687;20514537;20529992;20532885;20576794;20628086;20648472;20666915;20677133;20686565;20703243;20971884;2104827;2104828;21070754;21144789;2121736;21239051;21306478;21378990;21502573;21533024;21560847;21729554;21841780;21886157;21909109;21980494;22001757;22010135;22125638;22258027;22291609;22387998;22642827;22664149;22672568;22703881;22895189;22963146;23056639;23222517;23251661;23267103;23300138;23300549;23319424;2333095;23381943;23382263;23387832;23408906;23521133;23560502;23612905;23650146;23707316;23717212;24094242;24097068;24163370;24262325;24386095;24510570;4831223;4831233;5442829;618875;6770676;7488159;7598760;7772867;7779106;8456556;8484250;8641696;8839869;8873422;8928487;9175793;9325321;9800297 28 P16442;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;AMYH02021824;AMYH02021825;AV761252;AX504953;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;CAD48795;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 ABO A3 transferase;ABO glycosyltransferase;ABO weak transfer;B(A) alpha-1,3-galactosyltransferase;NAGAT;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 ENSG00000175164 HGNC:79 05821 110300 REVIEWED 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 17 p13.3 918106 1102463 - 906758 1090616 - 1003518 1229630 - 1580863;6480464;8554872 11756498;11921339;12376548;12477932;12621583;12787561;14702039;15123239;15525470;16341674;16344560;16712791;17474147;19946888;20379614;20467438;21832049;21963094;22889411;22990118;23443559;2587217;7479768;7829075;8262969;8349582;8889548 29 B7Z2X0;B7Z683;B7Z7Z1;I3L0R7;I3L1U8;I3L259;I3L2C0;I3L2L3;I3L2P5;I3L379;I3L3W0;I3L434;I3L4Y1;I3NI05;Q12979;Q6ZT60 ABBA01054630;ABBA01054631;ABBA01054632;ABBA01054633;ABBA01054634;ABBA01054635;ABBA01054636;ABBA01054637;ABBA01054638;ABBA01054639;AC015884;AC016292;AC107911;AC144836;AC212841;AC226497;AI763107;AK094544;AK124547;AK126882;AK127851;AK295191;AK299909;AK300336;AK302682;AK307827;AL135250;AMYH02032726;AMYH02032727;AMYH02032728;BC036807;BC141909;BM827672;CB153196;CF135918;CH471108;DA106008;DA327723;DC308495;DC325032;DR003682;HY115199;HY132628;HY133863;KF456222;L19704;L19705;NG_011987;NM_001092;NM_001159746;NM_001256847;NM_001282149;NM_021962;U01147;XM_006721506;XM_006721507;XM_006721508;XM_006721509;XM_006721510;XM_006721511;XM_006721512;XM_006725292;XM_006725293;XM_006725294;XM_006725295;XM_006725296;XM_006725297 AAC37518;AAC37519;AAC50063;AAI56484;AAI72517;BAC86734;BAG54051;BAH12006;BAH13169;BAH13263;BAH13777;EAW90631;EAW90632;EAW90633;EAW90634;EAW90635;NP_001083;NP_001153218;NP_001243776;NP_001269078;NP_068781;Q12979;XP_006721569;XP_006721570;XP_006721571;XP_006721572;XP_006721573;XP_006721574;XP_006721575;XP_006725355;XP_006725356;XP_006725357;XP_006725358;XP_006725359;XP_006725360 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 HGNC:81 02649 600365 REVIEWED 1603582 ABRA actin-binding Rho activating protein ENCODES a protein that exhibits actin binding (ortholog); INVOLVED IN positive regulation of Rho protein signal transduction (ortholog); positive regulation of sequence-specific DNA binding transcription factor activity (ortholog); FOUND IN plasma membrane; actin cytoskeleton (ortholog); sarcomere (ortholog); INTERACTS WITH benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); all-trans-retinoic acid (ortholog) 8 8 8 q23.1 103958692 103969453 - 107771711 107782472 - 106759483 106770244 - 6480464 11076863;11230166;11256614;11983702;12477932;14702039;15489334;15489336;15798203;16381901;17194709;17415416;19255118;21486805;23259602;23753523 137735 Q8N0Z2 ABBA01037690;AC023344;AF503617;AK092694;AL832152;AL833422;AMYH02018576;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 HGNC:30655 11608 609747 VALIDATED 1351168 ABRACL ABRA C-terminal like INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 6 6 6 q24.1 140089868 140104496 + 139349819 139364439 + 139028682 139043302 + 6480464 11042152;12477932;12665801;15489334;15723814;20940261;21082705;21139048 58527 Q5SZC9;Q9P1F3 ABBA01025801;ABBA01025802;AF116682;AF161398;AL590308;AMYH02014592;BC014953;BG563686;CH471051;NM_021243 AAF28958;AAF71102;AAH14953;EAW47902;NP_067066;Q9P1F3 Hs.600861 C6orf115;HSPC280;PRO2013;RP11-501K14.2 ABRA C-terminal-like protein;Costars;OTTHUMP00000017303;costars family protein ABRACL;costars family protein C6orf115;hypothetical protein LOC58527 APPROVED protein-coding ENSG00000146386 HGNC:21230 VALIDATED 5013939 ABT1P1 activator of basal transcription 1 pseudogene 1 4 4 4 97240941 97241755 - 99943465 99944279 - 99022314 99023128 - 100420695 ABBA01063668;AC019131;AMYH02009795;NG_025142 1686608 RH91583 pseudo HGNC:39557 INFERRED 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 + 26597171 26600278 + 26596943 26600050 + 1580863;6480464 10648625;11790298;12477932;14574404;15489334;15635413;18482256;19299493;21139048;21145461;21890473;23080069;24816145 29777 Q9ULW3 AB027258;ABBA01066559;AL513548;AMYH02013354;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;basal transcriptional activator APPROVED protein-coding HGNC:17369 16469 REVIEWED 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 + 127391781 127399769 + 127672929 127680926 + 1580863;6480464 10891360;11494141;12477932;14702039;15231748;15489334;15498874;18029348;18429817;18459963;18976975;19930467;21145461;8889548 80325 F2Z3F5;H7C4W8;Q969K4 AB053324;AB053325;AB053326;ABBA01020884;AC023593;AF297986;AF447886;AI337369;AK090422;AK090509;AK098738;AK130594;AK315148;AMYH02007606;BC011858;BF664138;BM671027;CH471052;NG_029479;NM_032548;NM_172027;NR_033429;XM_006713768;XM_006713769;XM_006713770;XM_006713771;XM_006713772 AAH11858;AAK57478;AAQ04661;BAB55648;BAB55649;BAB55650;BAC03403;BAC85392;BAG37596;EAW79333;EAW79334;EAW79335;EAW79336;NP_115937;NP_742024;Q969K4;XP_006713831;XP_006713832;XP_006713833;XP_006713834;XP_006713835 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 HGNC:18275 10513 608308 REVIEWED 733617 ABTB2 ankyrin repeat and BTB (POZ) domain containing 2 ENCODES a protein that exhibits protein heterodimerization activity (inferred); INVOLVED IN cellular response to toxic substance (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH (-)-demecolcine; benzo[a]pyrene diol epoxide I; cisplatin 11 11 11 p13 34320078 34526769 - 34172534 34379555 - 34150987 34358008 - 1580863;6480464;8554872 12477932;14702039;15489334;18429817;18459963;20379614;21145461;21906983;23333304;24623842 25841 Q8N961 ABBA01060867;ABBA01060868;ABBA01060869;ABBA01060870;ABBA01060871;ABBA01060872;ABBA01060873;ABBA01060874;AC090469;AK056863;AK091560;AK095632;AK291744;AL035079;AL050374;AL133294;AL139174;AMYH02024577;AMYH02024578;AMYH02024579;AMYH02024580;AMYH02024581;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 ABTB2A;BTBD22;DKFZp586C1619 OTTHUMP00000232337;ankyrin repeat and BTB/POZ domain-containing protein 2 protein-coding ENSG00000166016 HGNC:23842 10624 VALIDATED 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 3 p22.2 38100002 38114534 - 38164201 38178733 - 38122710 38137242 - 1300048;1580863;2313044;6480464;6907045 17632588 10231028;10960480;11418601;12477932;1347505;14621081;15489334;16385653;16756494;1679347;18029348;18281296;19423540;19913121;19946888;20406964;20438785;20628086;20877624;21048031;21890473;21988832;22151743;22939629;2318981;2365812;24816145;2630187;2726492;2882519;3194209;7750978;8619474;9053548;9110174;9427644 30 B4DVF4;B4E072;C9JDE9;F2Z2Q6;F2Z3P7;H0Y4D4;H7C131;P09110 ABBA01024827;AF035295;AK025138;AK127051;AK293716;AK301056;AK303251;AK316551;AMYH02006564;AP006309;BC000635;BC011977;BC014474;BC025780;BC039837;CH471055;DC312566;DC379687;NG_023225;NM_001130410;NM_001607;NR_024024;X12966;X14813;X51460;X65140;X65148;XM_006713122;XM_006713123 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;XP_006713185;XP_006713186 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;THIO 3-ketoacyl-CoA thiolase, peroxisomal;OTTHUMP00000209029;OTTHUMP00000209180;OTTHUMP00000209182;OTTHUMP00000209821;OTTHUMP00000209822;PTHIO;acetyl-Coenzyme A acyltransferase 1;beta-ketothiolase;peroxisomal 3-oxoacyl-CoA thiolase;peroxisomal 3-oxoacyl-Coenzyme A thiolase APPROVED protein-coding ENSG00000060971 HGNC:82 06815 604054 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 - 47309874 47340306 - 49783504 49813881 - 1580863;2317624;6480464;6907045 11879205 10856712;12477932;14702039;15242332;15489334;18193044;18371312;20571754;20679960;20877624;20972250;21139048;21832049;22863883;22939629;23741361;23842279;24816145;25027693;8125298;8241273 10449 B3KNP8;K7EJ68;K7EJB1;K7EME0;K7ER88;P42765 ABBA01018664;ABBA01018665;AC090227;AK054673;AK093311;AK225457;AK314462;AMYH02034701;AX616391;BC001918;CH471096;D16294;NM_006111 AAH01918;ABM84302;ABM87696;BAA03800;BAG37070;BAG51410;CAD67660;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 FLJ35992;FLJ95265;T1 3-ketoacyl-CoA thiolase, mitochondrial;DSAEC;OTTHUMP00000163502;acetyl-Coenzyme A acyltransferase 2;beta ketothiolase;beta-ketothiolase;mitochondrial 3-oxoacyl-CoA thiolase;mitochondrial 3-oxoacyl-Coenzyme A thiolase APPROVED protein-coding HGNC: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 17 q21 32264387 32589361 - 35441927 35766902 - 37367592 37368785 - 1580863;1300332;1625727;1300238;1300048;2317316;2317309;6480464;6907045;7240710;8699517;8554872 11735100;16485039;17882277;704404;734871 10677481;10737800;11052978;12360400;12477932;12810950;14643797;15302935;15333468;15607423;16169070;16326698;16698035;16713569;16794074;16806233;17081983;17372234;17521700;17620599;17631500;18031993;18056116;18303054;18452305;18455495;18480843;18487259;18614941;18614968;18660489;18678647;18996102;19061860;19343720;19380743;19543203;19710915;19720090;19723093;19738201;19842072;19846279;19913121;20139635;20379614;20431927;20457939;20562859;20602615;20628086;20877624;20965718;21139048;21344388;21471234;21638027;21642987;21726077;21890473;21906983;22238651;22268729;22505724;22586326;22863883;22939629;23000302;23181366;23383273;23455922;23535730;23886516;24457600;2900138;2900140;2906852;7732023;7905825;7907095;7915280;8944226 31 B2ZZ90;Q13085;Q59FY4;Q7Z5W8 AB209325;AB371587;ABBA01001371;ABBA01001372;ABBA01001373;ABBA01001374;ABBA01001375;ABBA01001376;ABBA01001377;ABBA01012436;ABBA01012437;ABBA01012438;ABBA01012439;ABBA01012440;ABBA01012441;ABBA01012442;AC003103;AC016482;AC068400;AC243628;AC243654;AC244093;AJ534888;AJ534889;AJ564444;AK129523;AK295586;AK295735;AK295805;AK296368;AK301579;AK308905;AK309084;AK309424;AK311329;AY237919;AY315616;AY315617;AY315618;AY315619;AY315620;AY315621;AY315622;AY315623;AY315624;AY315625;AY315626;AY315627;BC031485;BC041598;BC137287;BF154865;CF454424;CH471199;KF456271;NG_023295;NM_198834;NM_198836;NM_198837;NM_198838;NM_198839;U19822;XM_005257266;XM_005257267;XM_005257268;XM_006721853;XM_006725320;XM_006725321;XM_006725322;XR_424818;XR_429952;XR_430795;XR_433374 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;XP_005257323;XP_005257324;XP_005257325;XP_006721916;XP_006725383;XP_006725384;XP_006725385 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;ACC;ACC1;ACCA ACACAD;ACC-alpha;OTTHUMP00000164069;OTTHUMP00000164070;OTTHUMP00000164076;acetyl-CoA carboxylase 1;acetyl-CoA carboxylase-alpha;acetyl-Coenzyme A carboxylase alpha APPROVED protein-coding ENSG00000278540 HGNC:84 01938 200350;613933 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 12 q24.11 109201352 109330479 + 109554222 109706031 + 109116431 109268226 + 1304207;1580863;1300333;1625727;1300239;1300048;6480464;6907045;8554872 16485039;704405;734875;8670171 10677481;11257506;12086953;12413941;12477932;14532170;14613924;14627750;15060529;15590647;16054041;16794074;16854592;17223360;17521700;18029348;18031993;18455495;18976975;18996102;19034549;19190759;19322201;19390150;19618481;19720090;19846279;19900410;20085763;20139635;20168990;20379614;20468064;20514549;20519229;20599696;20602615;20799892;20855566;20877624;20965718;21139048;21344388;21553357;21887335;21906983;21908218;21953464;23081748;23156397;23460794;24255178;8876158;9099716;9148944;9284908 32 E9PEW7;F5H5C3;F8W8T8;H0YGH5;O00763;S4R3S7 AB209110;ABBA01005065;ABBA01005066;AC007637;AJ575431;AJ575592;AK302469;AK302502;AK307466;AMYH02027166;AMYH02027167;AMYH02027168;AMYH02027169;AY382667;BC009753;BC028417;CB269093;CB269579;CH471054;DB567934;DQ493870;NM_001093;R99037;U34591;U89344;XM_005253876;XM_006719365;XM_006719366;XM_006719367;XR_243001;XR_429096;XR_429097;XR_429098 AAB58382;AAC50571;AAH28417;AAI72264;AAI72569;AAR37018;ABF48723;BAD92347;BAG63759;BAG63782;CAE01470;CAE01471;EAW97852;EAW97853;EAW97854;EAW97855;NP_001084;O00763;XP_005253933;XP_006719428;XP_006719429;XP_006719430 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 HGNC:85 07044 601557 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 + 112123857 112194911 + 111686053 111757107 + 6480464;8554872 12477932;14702039;15197164;15560374;16344560;18950845;20379614;20390405;20877624;21237683;21642993;21832049;21906983;22423221;23364394 80724 D6RFF6;F8VXK4;F8W0Q4;F8W179;F8W1A9;F8W1I9;Q6JQN1 ABBA01019902;ABBA01019903;ABBA01019904;ABBA01019905;ABBA01019906;AC002996;AK092356;AK097425;AK310923;AL832043;AMYH02027211;AMYH02027212;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 HGNC:21597 10625 611181 REVIEWED 1604580 ACAD11 acyl-CoA dehydrogenase family, member 11 ENCODES a protein that exhibits long-chain-acyl-CoA dehydrogenase activity; medium-chain-acyl-CoA dehydrogenase activity; very-long-chain-acyl-CoA dehydrogenase activity; INVOLVED IN fatty acid beta-oxidation using acyl-CoA dehydrogenase; FOUND IN mitochondrial membrane; nucleus; peroxisome (ortholog); INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; benzo[a]pyrene 3 3 3 q22.1 130703259 130804468 - 132276982 132378975 - 132558138 132660131 - 6480464 12056414;12477932;14561759;14702039;15489334;16344560;19423540;20237496;20406964;20438785;20877624;21237683;21832049;21903422;22002062;24097068;24255178;25036637 84129 D6RDI8;F8WEV0;H0Y9C6;Q08AE9;Q709F0 ABBA01059180;ABBA01059181;ABBA01059182;ABBA01059183;ABBA01059184;ABBA01059185;AC020632;AI091999;AJ608287;AK022654;AK131265;AK298627;AK308380;AL832873;AL833721;AMYH02007688;AMYH02007689;AX803783;AX803785;BC019607;BC125204;BC125205;CH471052;DA804241;HH961824;KF457683;KF457684;NM_032169 AAH19607;AAI25205;AAI25206;BAB14158;BAD18443;BAG60803;CAE55233;CAE75545;CAE75546;CAH56228;CAH56354;CBX51385;EAW79193;EAW79194;EAW79195;NP_115545;Q709F0 Hs.441378 1751113;1797360;2180746 CCRL1_2475;SHGC-105034;SHGC-77360 ACAD-11;FLJ12592;MGC150619 62113 protein;OTTHUMP00000216473;acyl-CoA dehydrogenase family member 11;acyl-Coenzyme A dehydrogenase family, member 11;putative acyl-CoA dehydrogenase APPROVED protein-coding ENSG00000240303 HGNC:30211 13352 614288 VALIDATED 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 + 134123428 134135749 + 134253537 134265855 + 1580863;6480464;6907045;7240710;8554872;8699517 10235267;10524212;11013134;12359132;12477932;14702039;14752098;15489334;16806233;17387528;20360068;20877624;23080069;23251661 27034 B7Z7F1;E9PKP9;E9PLS3;H0YDR9;Q9UKU7 AB209538;ABBA01031114;AF126245;AF260689;AK000359;AK026243;AK074640;AK125373;AK299492;AK299795;AK301518;AK301921;AK303569;AK309051;AK309838;AMYH02025834;AP000859;BC001964;BI549961;CH471065;CQ782614;NG_015842;NM_014384;XM_005271501;XM_005271503;XM_005271505 AAF12736;AAF97922;AAH01964;ABM82019;ABM85201;BAA91109;BAC11107;BAC86149;BAD92775;BAH13050;BAH13130;BAH13503;BAH13587;BAH13987;CAF85883;EAW67833;EAW67834;EAW67835;NP_055199;Q9UKU7;XP_005271558;XP_005271560;XP_005271562 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 HGNC: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 3 q21.3 127030566 127064360 + 128598333 128631957 + 128879490 128913114 + 1580863;2317589;6480464;7240710;8554872;8699517 14728676 11256614;12359260;12477932;12971426;14702039;15489334;16020546;16344560;16750164;17564966;17672918;18385088;19615732;20186120;20816094;20877624;20929961;21057504;21139048;22277967;22939629;23064961;24250222;24816145 28976 D6R9Z3;D6RCD8;D6RDK9;D6RGK6;D6RJA8;H0Y8Z9;Q9H845 AB209427;ABBA01020915;ABBA01020916;ABBA01020917;AC112484;AF078854;AF327351;AK022568;AK024012;AK027186;AK130311;AK294597;AK297952;AK310644;AMYH02007628;BC001817;BC007970;BC013354;BC041572;CH471052;DA630022;NG_017064;NM_014049;NR_033426;XR_427366;XR_427367 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 HGNC: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 12 q24.31 120797834 120812046 + 121163544 121177811 + 120725768 120740008 + 1580863;1300335;1300239;1300048;2317678;2317589;6480464;6907045;7240710;8554872;8699517 14728676;3968063;704405;734878 11134486;12220177;12477932;12706374;1286669;15489334;15902559;16376132;16729965;1692038;18045290;18054510;18175080;18184946;18523805;18539996;18977676;19470168;19913121;20037589;20180986;20371198;20376488;20554694;20628086;20843780;20877624;21211036;21886157;21938826;21968293;21988832;22004070;2565344;8276399;8503850;8889548;9383286;9499414 35 E5KSD5;E9PE82;P16219 AB527081;ABBA01020134;ABBA01020135;AC069234;AK300645;AMYH02027380;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 HGNC:90 06053 201470;606885 REVIEWED 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 2 q34 204820713 204858229 - 211052632 211090215 - 210187908 210225491 - 1304195;1580863;704409;1300048;2317678;2317589;6480464;8554872 11125071;14728676;1774065;3968063 10832093;12477932;1438359;1559716;1607358;17500595;18029348;18660489;1945557;19913121;2000272;20037589;20363655;20628086;20877624;22118674;23281178;24121500;24591516;4022672;8739959;9003458;9714723 33 P28330 ABBA01062734;AC006994;AK296161;AK313498;AMYH02005681;BC039063;BC064549;CH471063;DC350098;M74096;NG_008002;NM_001608;XM_005246517 AAA51565;AAH39063;AAH64549;AAY14881;ABM81711;ABM84867;BAG36280;BAG58900;EAW70481;NP_001599;P28330;XP_005246574 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 HGNC:88 01939 609576 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 1 p31 74429931 74469272 + 76190043 76229355 + 75724347 75763679 + 1300334;1580863;704409;1300048;2317678;2317589;6480464;6484113;6907045;7240710;8554872;8699517 11125071;14728676;3968063;734877 10767181;11256614;11263545;11349232;11409868;11486912;11517203;12477932;12522104;12562916;12914524;1363805;14692513;14970748;15171999;15489334;15832312;15840729;15896661;15902558;16128823;16236267;16291504;16344560;16617240;1671131;1679031;1684086;16917729;16972171;17186412;1729890;1731887;17539907;18029348;18188679;18241067;18660489;18927092;1902818;19064330;19224950;19551636;19615732;19649258;1970566;19913121;20037589;20301597;20434380;20567907;20628086;20877624;21083904;21139048;21145461;21239873;21886157;21968293;2251268;22630369;22683754;22797925;22863883;23028790;23141465;23752268;23810226;2393404;2394825;24250222;24583282;24816145;25027693;3035565;3462713;3597357;3786030;6857268;7603790;7608198;7929823;8198141;8823176;9158144;9484241;9487154;9882619 34 B4DJE7;B4DVB1;B7Z9I1;E9PIX8;E9PJM9;E9PLN7;E9PQA8;E9PRX4;H0YDT5;P11310;Q5HYG7;Q5T4U5 ABBA01074416;ABBA01074417;ABBA01074418;AF251043;AK296045;AK301005;AK301039;AK301717;AK309843;AK311022;AK311185;AK312629;AK315946;AL357314;AMYH02001281;AMYH02001282;BC005377;BI789086;BX647734;CH471059;DB055575;DB453314;DB537134;M16827;M60505;M91432;NG_007045;NM_000016;NM_001127328;NM_001286042;NM_001286043;NM_001286044;U33947 AAA51566;AAA59567;AAB59625;AAF63626;AAH05377;ABM83267;ABM86636;BAG35514;BAG58809;BAG62623;BAG62652;BAG63188;BAH14317;CAI45986;EAX06399;EAX06400;EAX06401;NP_000007;NP_001120800;NP_001272971;NP_001272972;NP_001272973;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 HGNC:89 08447 201450;607008 REVIEWED 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 17 p13.1 7147787 7153219 + 7120444 7128586 + 7217125 7225267 + 704409;1580863;1300337;1300048;1300240;2317683;2317589;6480464;6484113;7240710;8554872;8699517 11125071;14728676;15850553;704385;734536 10077518;10790204;11158518;12477932;12609736;14611808;14702039;15489334;16212417;16344560;16464760;17374501;17457695;17514507;17999356;18063578;18156936;18337751;18660489;18781797;19327992;19889959;20060901;20099975;20107901;20186120;20301763;20952238;21890473;21906983;21932095;21988832;22093833;22093928;22304920;22939629;23169530;23480858;7479827;7668252;7769092;8125298;8466512;8554073;8554625;8845838;8921384;9546340;9599005;9709714;9973285 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;AMYH02032893;AMYH02032894;BC000399;BC012912;BC020218;BI822737;BP387474;CH471108;D43682;D78298;DA945553;L46590;NG_007975;NM_000018;NM_001033859;NM_001270447;NM_001270448;X86556;XM_006721516 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;XP_006721579 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 HGNC:92 01940 201475;609575 REVIEWED 1313339 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); protein transport (inferred); regulation of ARF GTPase activity (inferred); PARTICIPATES IN endocytosis pathway; FOUND IN membrane; INTERACTS WITH copper(2+) sulfate; cytarabine; beta-naphthoflavone (ortholog) 17 17 17 p13.1 7265787 7280732 + 7239848 7254797 + 7336529 7351478 + 1580863;6480464;6907045 11050434;11062263;12477932;15489334;15525538;16189514;16777052;17005562;17010122;17474147;17664335;18003747;18685082;19946888;20379614;20800603;22188517;22505724;22645133;23317930;24816145;7566098;7584044 9744 I3L0K9;I3L268;I3L2Z4;I3L3X6;Q15027 AA356620;ABBA01054860;AC026954;AMYH02032897;AMYH02032898;BC018543;BT009788;CH471108;D30758;NM_014716;XM_005256878;XR_243574;XR_429827 AAH18543;AAP88790;ABM82645;BAA06418;EAW90209;EAW90210;NP_055531;Q15027;XP_005256935 Hs.337242 5023450 RH25286 CENTB1;KIAA0050;cnt-b1 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 protein-coding ENSG00000072818 HGNC:16467 08474 607763 VALIDATED 6481025 ACAP2-IT1 ACAP2 intronic transcript 1 (non-protein coding) 100874306 AC090018 ncrna HGNC:41426 1347120 ACAP2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); Rab GTPase binding (inferred); zinc ion binding (inferred); INVOLVED IN cellular response to nerve growth factor stimulus (ortholog); protein localization to endosome (ortholog); PARTICIPATES IN endocytosis pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN membrane; endosome membrane (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 3 3 3 q29 193403894 193572181 - 194995465 195163817 - 195274736 195443088 - 1580863;6480464;6907045;8554872 11001876;11050434;11062263;12477932;15489334;15592455;16344560;18003747;18685082;19946888;22379092;23184937;24816145;7584044;8125298 23527 C9J8L1;F8WAU0;H7C1E0;H7C3K3;H7C3Q8;Q15057 ABBA01001610;ABBA01001611;AC090018;AC091633;AC126170;AJ238248;AK222635;AK290369;AMYH02008465;AMYH02008466;AMYH02008467;AMYH02008468;AMYH02008469;BC014843;BC017120;BC031005;BC047579;BC060767;CA413842;CH471052;D26069;DA774230;DB087306;NM_012287;XM_006713557;XM_006713558 AAH31005;AAH60767;BAA05064;BAF83058;CAB41450;EAW78026;EAW78027;NP_036419;Q15057;XP_006713620;XP_006713621 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 HGNC: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 15 q26.1 65748790 65819902 + 89346674 89418585 + 88803442 88875354 + 1300269;1580863;2315807;2315836;2315837;2315073;6480464;7240710;8554872;8699517 11764092;14769391;18511192;19955224;9192671 10400671;10751421;10922468;11038354;11854269;11898616;11932252;12054629;12205105;12477932;12888576;1326552;14558103;14627072;14701864;14722076;14724283;15505028;15590670;1569188;16001263;16080123;16188468;16335952;16344560;16402214;16425147;16537531;16574327;16650460;16741449;17261541;17308074;17568421;17588949;17632389;18040638;18055126;18391952;18829133;19004047;19034380;19110214;19180518;19220578;19266077;19294492;19298220;19333097;19545413;19657146;19669783;19790048;1985970;19893584;19913121;19953087;20137779;20367118;20367178;20379614;20496110;20505571;20546612;20618160;20628086;20640910;20806220;20881960;20936487;21039430;21117903;21224775;21277254;21655647;21689646;21948754;21998595;22015197;22241609;22297263;22329809;22441960;22670872;22820679;23209686;23237500;23370687;23563607;23897278;24032649;24063364;24296484;24312401;24398992;24421874;2789216;7240256;7524681;7574678;7626017;7827755;7998967;8216228;8314595;8349621;8611178;8921002;9013976;9654129;9688535;9756610 176 E7ENV9;E7EX88;H0YK70;H0YM81;H0YMF1;P16112;Q6PID9 ABBA01053001;ABBA01053002;AC103982;AK290723;AMYH02031012;BC036445;BC150624;BQ182050;BQ446640;CH471101;CS025622;DA596050;J05062;L12234;L29488;M55172;NG_012794;NM_001135;NM_013227;S74659;U13192;X17406;X80278;XM_006720419 AAA35726;AAA62824;AAB48068;AAC60643;AAH36445;AAI50625;BAF83412;CAA35463;CAI61688;EAX02017;EAX02018;EAX02019;EAX02020;EAX02021;NP_001126;NP_037359;P16112;XP_006720482 Hs.2159;Hs.616395 1335591;1339626;1724835;1761671;2136832;2140715 D15S1004;D19S876;RH119180;RH17913;SGC30467;SHGC-145650 AGC1;CSPG1;CSPGCP;MSK16;SEDK AGCAN;aggrecan 1;aggrecan core protein;cartilage-specific proteoglycan core protein;chondroitin sulfate proteoglycan core protein 1;large aggregating proteoglycan APPROVED protein-coding ENSG00000157766 HGNC:319 01123 155760;165800;608361;612813 REVIEWED 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 10 q26.13 118474901 118524347 + 124768429 124817806 + 123008913 123058290 + 1300336;704409;1580863;1300048;6480464;6907045;7240710;8554872;8699517 11125071;734879 10832746;11013134;12477932;12855692;15489334;16317551;16331963;16331964;16344560;16385451;17143180;17207965;18976975;19615732;20418485;20547083;20877624;21139048;21890473;22277967;22797925;23712021;25027693;7698750;7759115 36 H0Y6T4;P45954 ABBA01062838;AC012391;AC073585;AF260678;AK298638;AK314241;AL731666;AL831821;AMYH02023959;AMYH02023960;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 HGNC:91 02626 600301;610006 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 11 q22.3 105147145 105173805 + 107992258 108018895 + 108121531 108148168 + 704409;1300338;1300048;1580863;1300240;2307223;2326222;1358268;2326093;1581042;2326081;6480464;6907045;7240710;8554872;8699517 11125071;15308631;15877199;15961705;19147991;19878707;704385;734884;7617578 12477932;12754704;1346617;1351831;15128923;15158756;15242332;1627655;16341674;1684944;16935016;1715688;17236799;17353931;17371050;17691824;18000807;18029348;18393248;18511318;18542101;18562306;18779653;18971559;18996102;19056867;19112833;19217763;19269342;19625677;19738201;1979337;19851860;20046049;20156697;20167577;20301313;20460577;20602615;20843517;20877624;20945045;21081666;21110914;21139048;21145461;21177161;21791085;21890473;21906983;21988832;22057399;22145905;22243772;22268729;22275303;22586326;22623428;22939629;23305686;23443136;23564383;23835473;23874603;24311408;24407243;24486017;24517390;24583282;25027693;3709573;4690360;7173255;7728148;7749408;7907600;8103405;9380443;9607396;9700610;9744475 38 E9PKF3;E9PRQ6;G3XAB4;H0YEL7;P24752 ABBA01039868;ABBA01039869;ABBA01039870;AF086561;AK312574;AMYH02025543;AMYH02025544;AMYH02025545;AP002433;AW081574;BC010942;BC063853;BM789408;CH471065;D10511;D90228;NG_009888;NM_000019;S70578;XM_006718834;XM_006718835 AAH10942;BAA01387;BAA14278;BAG35468;EAW67103;EAW67104;EAW67105;NP_000010;P24752;XP_006718897;XP_006718898 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 HGNC:93 01946 203750;607809 REVIEWED 1321777 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred); PARTICIPATES IN endocytosis pathway; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; acetylsalicylic acid; methyl methanesulfonate 1 1 1 1337872 1353397 + 1227764 1243304 - 1292384 1307924 - 1580863;6480464;6907045;8554872 11214970;12477932;14702039;15489334;16169070;19548526;19913121;20628086;21900206;24250222 116983 F8W850;Q8WTZ1;Q96P50 AB051503;ABBA01016029;AF411981;AK093954;AK098490;AL139287;AL162741;AMYH02000090;BC004874;BC021851;BC029929;BC047001;BC051194;CH471183;NM_030649;XM_005244714;XM_005244715;XM_005244716;XM_005244717;XM_006710329 AAH04874;AAH21851;AAH29929;AAH51194;AAL04165;BAB21807;BAC04257;EAW56246;EAW56247;EAW56248;EAW56249;EAW56250;NP_085152;Q96P50;XP_005244771;XP_005244772;XP_005244773;XP_005244774;XP_006710392 Hs.535257 2183853 SHGC-74126 CENTB5;KIAA1716;cnt-b5 OTTHUMP00000002285;arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3;centaurin, beta 5;centaurin-beta-5 protein-coding ENSG00000131584 HGNC:16754 10820 VALIDATED 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 - 226332380 226374423 - 226144679 226186722 - 1580863;6480464;8554872 11590181;11731621;12477932;12665801;12692076;12711385;14702039;15231748;15489334;16710414;16870622;17711851;18029348;18636124;19322201;19946888;20150326;21139048;21145461;21890473;21906983;21963094;22053931;22124328;22190034;22258260;22383495;22505724;22796112;22863883;23000965;23166793;23572552;23874603;23926333;24012756;24672044;24816145;25027693 64746 O43466;Q9H3P7 AB043587;ABBA01009645;ABBA01009646;ABBA01009647;ABBA01009648;AF020762;AK025520;AK057118;AK314468;AL592045;AMYH02002808;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 HGNC:15453 08432 606809 REVIEWED 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 6 q25.3 160829071 160846164 + 160182989 160200087 + 159761957 159779055 + 1298605;1581921;1556516;1601111;1601112;2316857;2326093;6480464;6907045;7240710;8699517 11100118;14557872;15877199;16195894;16675724;16876788;2475872 12477932;12518221;12621162;14574404;14702039;15158756;15342556;15489334;15733928;16331323;17207965;17353931;17919884;17950700;18000807;18029348;18269457;18660489;18996102;19071091;19282863;19467657;19913121;20167577;20602615;20628086;20877624;21044950;21139048;21890473;21987487;21988832;22053931;22155889;22863883;22939629;23824909;24250222;24816145;25015289;25027693;6150136;7911016;8125298;8812443 39 Q9BWD1 AB208993;ABBA01021060;ABBA01021061;ABBA01021062;AF356877;AK055001;AK225089;AK225244;AK291080;AK294273;AL135914;AMYH02014872;AMYH02014873;BC000408;BM997310;BP210609;CH471051;KF458339;NG_023389;NM_005891;S70154;XM_005266980 AAB30856;AAH00408;AAM00223;ADQ32668;BAD92230;BAF83769;BAH11719;EAW47619;EAW47620;NP_005882;Q9BWD1;XP_005267037 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 HGNC:94 00006 100678;614055 REVIEWED 1350250 ACBD7 acyl-CoA binding domain containing 7 ENCODES a protein that exhibits fatty-acyl-CoA binding (inferred); lipid binding (inferred); INTERACTS WITH calcitriol; paracetamol; silicon dioxide 10 10 10 p13 15046107 15059408 - 15057071 15130783 - 15075475 15088776 - 6480464 12477932;14702039;15164054;15489334;23251661 414149 B7Z2W2;Q8N6N7 ABBA01034600;AK095538;AK295169;AL590365;AMYH02022205;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 HGNC:17715 VALIDATED 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 + 43209967 43221548 + 45132600 45144181 + 6480464 12477932;14702039;15221005;15489334;16344560;17207965;19430483;20881960;21045733;21832049;22566634 79777 B4DJP3;K7EM05;K7EMH4;Q8NC06 AB073387;ABBA01028325;ABBA01028326;ABBA01028327;AC142472;AK023384;AK075104;AK296167;AK316359;AMYH02033510;AX880467;BC022000;BC029164;BC041143;CH471178;DA039654;DB128538;DC393065;DC421936;NM_001135704;NM_001135705;NM_001135706;NM_001135707;NM_024722;XM_005257673;XM_005257674;XM_005257677;XM_006722085;XM_006722086;XM_006722087;XM_006722088;XM_006722089;XM_006722090 AAH29164;AAH41143;ADQ33037;BAB14553;BAC11403;BAD38638;BAG58905;BAH14730;CAE90961;EAW51548;EAW51549;EAW51550;EAW51551;EAW51552;NP_001129176;NP_001129177;NP_001129178;NP_001129179;NP_078998;Q8NC06;XP_005257730;XP_005257731;XP_005257734;XP_006722148;XP_006722149;XP_006722150;XP_006722151;XP_006722152;XP_006722153 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 HGNC: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 related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 10 10 10 p12.1 27200570 27247485 - 27484143 27531068 - 27195214 27242275 - 1580863;6480464 12056414;12477932;14702039;15342556;16385451;17207965;18029348;19946888;20626622;21890473;21906983;21963094;22190034;23000965;23105016;24905344 91452 B7Z2A7;B7Z2R7;Q5T8D3;Q5T8E0;Q8NCM9;X6RDD7 AB082527;ABBA01034394;ABBA01034395;ABBA01034396;ABBA01034397;ABBA01034398;ABBA01034399;AF505653;AI453384;AK057469;AK294510;AK295031;AK304842;AL133064;AL160291;AMYH02022509;AMYH02022510;BC011364;BC025309;BC030555;BP200763;BX643349;CA776355;CH471072;DC333545;DC333870;KF459530;NG_032960;NM_001042473;NM_001271512;NM_001301251;NM_001301252;NM_001301253;NM_001301254;NM_145698;NR_024150;NR_073195;NR_073196;NR_073197;XM_006717528;XM_006717529;XM_006717530;XM_006717531;XM_006717532;XM_006717533;XM_006717534;XM_006717535 AAH30555;AAP30852;ADQ32840;BAC02705;BAG51918;BAH11793;BAH11953;BAH14266;CAB61388;EAW86059;EAW86060;EAW86061;EAW86062;EAW86063;NP_001035938;NP_001258441;NP_001288180;NP_001288181;NP_001288182;NP_001288183;NP_663736;Q5T8D3;XP_006717591;XP_006717592;XP_006717593;XP_006717594;XP_006717595;XP_006717596;XP_006717597;XP_006717598 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 HGNC:23338 12415 REVIEWED 1606762 ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) INVOLVED IN biosynthetic process (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; cisplatin 11 11 11 p11 44234936 44252861 + 44087729 44105791 + 44066179 44084240 + 6480464 11470512;12477932;14702039;16189514;16344560;20453000 84680 E9PRT9;E9PS61;Q96QU6 ABBA01060771;AC134775;AK057649;AK302515;AK304074;AK307380;AL833533;AMYH02024683;AY026508;BC020197;CH471064;DA196370;DA406116;DC390076;NM_001127219;NM_032592;XM_005253170;XM_005253171;XM_005253172;XM_006718347;XM_006718348 AAH20197;AAK11482;BAB71541;BAG63791;BAG64981;EAW68072;EAW68073;NP_001120691;NP_115981;Q96QU6;XP_005253227;XP_005253228;XP_005253229;XP_006718410;XP_006718411 Hs.126706 2189509 G73152 ACS;PHACS 1-aminocyclopropane-1-carboxylate synthase-like protein 1;ACC synthase-like protein 1;OTTHUMP00000232862 protein-coding ENSG00000110455 HGNC:23989 10524 608405 VALIDATED 1312817 ACBD6 acyl-CoA binding domain containing 6 ENCODES a protein that exhibits fatty-acyl-CoA binding (inferred); lipid binding (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; cyclosporin A 1 1 1 q25.1 153364592 153578887 - 180257352 180472022 - 180288217 180502887 - 737633;1580863;6480464 12477932 15489334;16710414;18029348;18268358;19471022;20098747;20379614;21139048;21832049;21890473;21963094;22053931;8889549 84320 B2RAA8;Q9BR61 AA085012;ABBA01027794;ABBA01027795;ABBA01027796;AK314112;AL139141;AL358354;AL445469;AL537685;AL561590;AMYH02002242;AMYH02002243;AMYH02002244;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 ENSG00000230124 HGNC:23339 12416 VALIDATED 2302255 ACCSL 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like ENCODES a protein that exhibits catalytic activity (inferred); pyridoxal phosphate binding (inferred); INVOLVED IN biosynthetic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH pentachlorophenol (ortholog); pirinixic acid (ortholog); valproic acid (ortholog) 11 11 11 p11.2 44216736 44228734 + 44069531 44081527 + 44047981 44059977 + 6480464;8554872 12477932 390110 E9PI59;Q3C1W0;Q4AC99 AB231732;AB231733;AB231734;ABBA01060771;AC134775;AMYH02024682;BC144554;CH471064;DW009984;NM_001031854;XM_005252915 BAE17132;BAE46887;EAW68074;NP_001027025;Q4AC99;XP_005252972 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 HGNC:34391 VALIDATED 6895289 ACE3P angiotensin I converting enzyme (peptidyl-dipeptidase A) 3, pseudogene 17 17 17 q23.3 55972116 55984899 + 61584395 61597188 + 63507034 63519827 + 17597519 100129123 ABBA01035330;AC113554;AMYH02033775;NG_016186 ACE3 pseudo HGNC:44365 INFERRED 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 16 q22.1 52199905 52203208 - 67691415 67694718 - 67657512 67660815 - 1580863;6480464;8554872 12477932;14702039;15181449;15231715;15316005;15380063;15383534;15489334;15537664;16166375;16169070;16189514;16344560;16504561;16713569;16749892;16880378;17237767;17237768;17373762;17466001;17632522;18185984;19424630;19648609;19766477;20094033;20404094;20937264;21044950;21145461;21209389;21355086;21906983;22863003;23251661;23616058;24250222;8619474;9110174 65057 Q96AP0;R4GMR6;R4GND4;R4GNJ5 ABBA01025451;AC010530;AF070535;AK023726;AK125623;AK301090;AMYH02032239;AY502940;AY971883;BC016904;CH471092;DB040017;NM_001082486;NM_001082487;NM_022914;XM_005256115;XR_429727;XR_429728 AAH16904;AAS80318;AAX82621;BAB14658;BAG62692;EAW83154;EAW83155;NP_001075955;NP_001075956;NP_075065;Q96AP0;XP_005256172 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 HGNC:25070 12417 609377 REVIEWED 1346570 ACER3 alkaline ceramidase 3 ENCODES a protein that exhibits phytoceramidase activity; INVOLVED IN phytosphingosine biosynthetic process; positive regulation of cell proliferation; sphingosine biosynthetic process; PARTICIPATES IN sphingolipid metabolic pathway; FOUND IN integral component of endoplasmic reticulum membrane; integral component of Golgi membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; kojic acid 11 11 11 q13.5 73879386 74042342 + 76571917 76734850 + 76860873 77023806 + 1580863;6480464;6907045 11356846;12477932;14702039;15489334;17207965;18619555;19322201;19834535;19913121;20068046;20379614;20628086;20706999 55331 B7Z2Q2;B7Z2V2;E9PIN9;E9PKR3;E9PL35;E9PLZ9;E9PR08;J3KN85;Q9NUN7 ABBA01017443;ABBA01017444;ABBA01017445;AF214454;AF327353;AI885537;AK002100;AK293800;AK294978;AK295142;AK295327;AK308856;AK315000;AK316120;AMYH02025129;AMYH02025130;AP000752;AP002498;AP003119;BC049837;BC063034;BC073853;BG702017;CH471076;DB461413;KC877444;KF455419;NM_001300953;NM_001300954;NM_001300955;NM_018367;XM_005274087;XM_005274089;XM_005274090;XM_005274092 AAH73853;AAK71923;AAL56013;ADQ31994;BAA92085;BAG37496;BAH11598;BAH11938;BAH11988;BAH12032;BAH14491;EAW75009;EAW75010;EAW75011;EAW75012;NP_001287882;NP_001287883;NP_001287884;NP_060837;Q9NUN7;XP_005274144;XP_005274146;XP_005274147;XP_005274149 Hs.23862;Hs.720248 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 dihydroceramidase SB89;alkaline phytoceramidase;phytoceramidase, alkaline protein-coding HGNC:16066 17844 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 X p22 19694648 19735682 - 15579156 15620192 - 15561033 15602069 - 1581742;1581931;1576349;1580863;1558664;1642828;2313796;2313798;2313800;2313797;2313799;2325210;4140485;4140483;6480464;6907045;8548898;8548900;8554872 15486224;15638741;15671045;16459167;16520407;17977916;18235039;18679036;18753062;19034303;19077419;19212105;20465954;20581171;21792177 10924499;10969042;11815627;12025971;12075344;12459472;12477932;12967627;12975309;14647384;14670965;14754895;15084671;15141377;15151696;15165741;15231706;15233982;15276642;15283675;15361769;15380922;15452268;15489334;15640278;15769906;15791205;15897467;15937940;15979045;15983030;16001071;16006956;16055515;16088128;16166094;16166518;16211375;16215952;16283142;16315782;16338465;16510163;16574921;16647014;16690935;16866021;16912312;16962475;17037534;17037543;17037544;17037581;17079315;17303661;17473847;17504232;17703127;17897017;17906677;18022600;18029348;18070603;18164957;18208662;18223023;18223027;18223028;18258853;18279660;18310257;18343844;18389211;18441099;18448527;18490652;18496132;18502721;18554741;18560893;18660448;18814896;18926157;18931070;19020433;19021774;19051693;19056867;19067252;19077694;19136547;19141296;19164471;19164480;19286756;19286757;19289653;19297479;19411314;19461648;19684612;19700132;19716087;19864379;19901337;19913121;19924243;19926873;19934006;20060185;20117248;20117991;20134095;20142028;20160196;20204277;20224560;20349406;20484496;20541774;20559404;20592051;20628086;20660625;20674894;20679547;20692300;20703229;20798044;20813695;20831027;20854388;21052031;21068237;21072744;21115782;21189404;21265092;21316680;21346373;21411533;21457402;21490025;21670585;21814048;21864606;21880865;21946695;21952934;21963832;21993363;22025374;22033511;22048948;22179088;22291007;22297693;22475818;22523556;22629438;22647782;22718567;22749485;22750422;23077079;23091417;23144053;23230080;23328447;23488800;23545945;23630610;23816468;23893738;23921915;24014829;24054336;24100303;24134599;24142614;24147777;24158104;24168260;24172901;24191856;24227843;24342297;24564768;24838502 59272 Q9BYF1 AB046569;AB193259;AB193260;ABBA01071320;ABBA01071321;ABBA01071322;ABBA01071323;ABBA01071324;ABBA01071325;AC097625;AF241254;AF291820;AF366352;AK026461;AK315144;AL110224;AMYH02038914;AX047758;AX418982;AX431513;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;CAC18991;CAD35458;CAD37288;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-converting enzyme 2;angiotensin-converting enzyme homolog;metalloprotease MPROT15;peptidyl-dipeptidase A APPROVED protein-coding ENSG00000130234 HGNC:13557 02274 300335 REVIEWED 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 - 6306510 6333640 - 6306499 6333629 - 1580863;6480464;6907045;8554872 11915342;12477932;12783875;15489334;16477081;17562024;17713573 125981 Q8TDN7 ABBA01055969;ABBA01055970;ABBA01055971;ABBA01055972;ABBA01055973;ABBA01055974;AC011491;AC114268;AF347024;AMYH02035349;AMYH02035350;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 APPROVED protein-coding HGNC:18356 12496 613491 VALIDATED 1353412 ACHAP acetylcholinesterase-associated protein 42 HGNC:107 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 + 19408925 19452618 + 19408927 19452620 + 6480464;6907045;8554872 12477932;15164053;15489334;15498874;16940153;18945876;20089856;20379614;20628055;24708996 340485 B3KVV5;Q5QJU3 ABBA01065196;AF370405;AK123581;AL158206;AL391834;AMYH02019264;AY312516;BC092487;CH471071;NM_001010887;XM_005251447;XM_005251448;XR_242505;XR_242506;XR_242507 AAH92487;AAQ15241;AAQ85132;BAG53917;EAW58634;NP_001010887;Q5QJU3;XP_005251504;XP_005251505 Hs.41379 1647973;2218256 ASAH3L_4379;STS-H90280 ALKCDase2;ASAH3L;FLJ41587;haCER2 N-acylsphingosine amidohydrolase 3-like;OTTHUMP00000021124;acylsphingosine deacylase 3-like;alkCDase 2;alkaline CDase 2;ceramide hydrolase APPROVED protein-coding HGNC:23675 16512 613492 VALIDATED 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 17 q23.3 55942475 55963778 + 61554422 61575741 + 63477061 63498380 + 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;8157609;8548889;7829785;8142355;8157602;8157608;8548872;7829800;7829810;8548864;8157600;7829770;8142370;8548894;7829783;8142353;7829799;8142349;8142364;8158033;8548866;8142345;8142348;8142351;8142360;7257515;8142368;7829777;7401223;8142344;8142363;7829780;7829794;8548885;8142350;8548898;8548899;7829797;8157611;8554872;8699517 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1636 B4DKH4;D3DU13;F6X3S4;J3KRH5;J3KRQ0;J3KS28;J3KSQ5;J3KTB8;J3KTH9;J3QKZ3;J3QLR4;J3QRX8;J3QSC7;L7MUH0;P12821 A31567;AB208971;ABBA01035331;AC113554;AF118569;AF229986;AK296566;AK300516;AK301988;AK302019;AK309514;AMYH02033775;AY436326;AY999972;AY999973;BM908180;BM908222;CH471109;EU332840;J04144;JQ927553;M26657;M29981;NG_011648;NM_000789;NM_001178057;NM_152830;S81361;X16295;XM_005257110;XM_006721737 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;XP_005257167;XP_006721800 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 HGNC:2707 00108 104300;106180;267430;612624;614519 REVIEWED 1353263 ACHM1 achromatopsia (rod monochromacy) 1 ASSOCIATED WITH Achromatopsia 3 (inferred); Stargardt disease 1 (inferred) 7240710 1347967 6021 HGNC:109 248200;262300 735878 ACHE acetylcholinesterase (Yt blood group) 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 7 q22 95218191 95224120 - 100487615 100493754 - 100889994 100896914 - 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;8551790;8549506;8554872 10087275;11403956;126256;1385785;16581404;17657467;17786266;17986328;19296211;19303406;19374834;19453088;19474411;20053170;20088621;20464061;20645790;21303225;21921108;21991983;24508992;2658981;2953866;334962;704405;734904;7634486 10800960;10837146;11002295;11053835;11239002;11283752;11799248;11804574;12009429;12069617;12081473;12140295;12427014;12466963;12477932;12524166;12548360;12604711;12609505;12690205;12769797;12811800;12851386;12853948;12928915;12963741;1380483;1391965;14766237;15060281;15078872;15123727;15161650;1517212;15454088;15459952;15474030;15488495;15526038;15629887;15690550;15715671;15783300;15974894;15974920;1609795;16213467;16256091;16256968;16262697;16289501;16375580;16429485;16516310;16801396;16832351;16909200;16996687;17192624;17192630;17192673;17272501;17320203;17335779;17370251;1744105;17476278;1748670;17503475;17606622;17702992;17729290;17948252;17984143;18161504;18194455;18215127;18258603;18299393;18344198;18454940;18457821;18470725;18612832;18769671;18780301;19019080;19051205;19086053;19156168;19185568;19294450;19327769;19371630;19371631;19468687;19730683;19912576;19913121;20138030;20156100;20173328;20193849;20338155;20356562;20398640;20398908;20431033;20433814;20529763;20602615;20628086;20883446;20964587;21274871;21377978;21473860;21490949;21493754;21530001;21576115;21621296;21730071;21795704;22142546;22560633;2263619;22805525;22990020;23047022;23047027;23063927;23072732;23119107;23440190;23466605;23583979;23711548;23748235;23897820;23936791;23974008;23981668;24249815;24402754;24594013;2714437;2734315;3319614;3954986;7085778;7836436;8125298;8248502;8280063;8299725;8349597;8449945;8460160;8488842;9579781;9640563;9689136;9811904;9847074 43 C9J2S3;C9JD78;C9JUK5;C9JZL6;F8WAR7;F8WD34;F8WD68;P22303 ABBA01013176;AC011895;AF002993;AF312032;AF334270;AK223443;AK291321;AMYH02016392;AMYH02016393;AY389977;AY750146;BC001541;BC026315;BC036813;BC094752;BC105060;BC105062;BC143469;BG707892;CH236956;CH471091;KF510962;L06484;L42812;M55040;NG_007474;NM_000665;NM_001282449;NM_015831;S71129;XM_005250357;XM_005250358;XM_006715994;XM_006715995 AAA68151;AAC60618;AAH36813;AAI05061;AAI05063;AAI43470;AAK21003;AAO32948;AAP22364;AAP22365;AAR26654;AAU43801;BAD97163;BAF84010;EAL23812;EAL23813;EAW76460;EAW76461;EAW76462;EAW76463;EAW76464;NP_000656;NP_001269378;NP_056646;P22303;XP_005250414;XP_005250415;XP_006716057;XP_006716058 Hs.154495 1769989;2157266 RH17909;STS-M55040 ACEE;N-ACHE;YT ARACHE;OTTHUMP00000211345;OTTHUMP00000211346;OTTHUMP00000211347;OTTHUMP00000211349;OTTHUMP00000211356;Yt blood group;acetylcholinesterase;apoptosis-related acetylcholinesterase APPROVED protein-coding ENSG00000087085 HGNC:108 00010 100740;112100 REVIEWED 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 3 p21.3 42788881 42846689 + 42850964 42908775 + 42809472 42867283 + 632634;1580863;6480464;8554872 9364936 10364178;10702689;10706668;10725696;10725697;10781587;11238036;11821900;12406880;12477932;12594248;12671049;15067078;15084596;15489334;16014924;16148;16344560;16814608;17607362;18201974;18676013;18708360;18714007;18822328;19074885;19446728;19632987;20147628;20237496;20404785;21151196;21832049;22226505;22796582;22797410;22867710;22939232;23251661;23314186;23462454;23479571;23633677;24013383;24644289;24699281;9139699;9405404 1238 O00590;Q7Z7I1;V9GYB7;V9GYM0;V9GYX0;V9GZ70 ABBA01024762;ABBA01024763;AC099329;AF481959;AK313561;AMYH02006630;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 1655241;1689779;1699964;1739555;1792054;1852438;2111216;2112626;2128143;2138450;5106961;5492999 A007H30;D3S288;D3S3127;D3S3147;D3S3456;D3S4375;PMC135942P1;RH103592;RH11977;RH69845;RH80321;UniSTS:483590 CCBP2;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 binding protein 2;chemokine receptor CCR-10;chemokine receptor CCR-9;chemokine receptor D6;chemokine-binding protein 2;chemokine-binding protein D6 APPROVED protein-coding ENSG00000144648 HGNC:1565 09095 602648 REVIEWED 1347611 ACKR1 atypical chemokine receptor 1 (Duffy blood group) The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q21-q22 132244749 132246528 + 159173803 159176290 + 159204013 159206500 + 1580863;6480464;6907045;7240710 10570183;11446431;11730271;11753822;11813069;12081195;12160521;12477932;12697152;12734373;12739041;12956774;13679391;15214968;15327416;15358176;15489334;15569072;15754970;15783300;15847654;16148;16372020;16710414;17073738;17207965;17382291;17416748;17880612;17903293;17955335;18067501;18093292;18230715;18248572;18460195;18510579;18608113;18621010;18710383;18804827;18827265;19048480;19060902;19064726;19180233;19206111;19290478;19336370;19454339;19454340;19454341;19454342;19620399;19822078;19913121;19927622;20040767;20162434;20199879;20231434;20347396;20431033;20560530;20588308;20596779;20628086;20655787;20655790;20664684;21088296;21151196;21156192;21507922;21784153;22037903;22075330;22082243;22097233;22123959;22207676;22291609;22744181;22910367;23017229;23028857;23168236;23224555;23251661;23259672;23347639;23462454;23753024;23820435;24260134;24981451;2892777;7517217;7592830;7663520;7689250;7705836;7833467;8248172;8542025;8889548;9058825;9195930;9731074;9746760;9886340;9921412 2532 Q16570;Q5JY94;Q5Y7A1;Q5Y7A2 ABBA01016620;AF030521;AF055992;AF100634;AK291593;AL035403;AMYH02002009;AY167991;AY663416;AY663417;AY663418;AY663419;AY663420;AY663421;AY663422;AY663423;AY663424;AY663425;AY663426;AY663427;AY663428;AY663429;AY663430;AY663431;AY663432;AY663433;AY747695;BC017817;BC095496;BM671230;BX537430;CA435450;CD701182;DQ181553;DQ181554;DQ181555;DQ181556;DQ181557;DQ181558;DQ181559;DQ181560;DQ181561;DQ181562;DQ181563;DQ181564;DQ181565;DQ181566;DQ181567;EL735542;JN251907;JN251908;JN251909;JN251910;JN251911;JN251912;JN251913;JN251914;JN251915;JN251916;JN251917;KF455042;NG_011626;NM_001122951;NM_002036;S76830;U01839;X85785 AAB33239;AAC50055;AAC72301;AAD20435;AAF02415;AAF02416;AAH17817;AAH95496;AAO11657;AAU47275;AAU47276;AAU47278;AAU47279;AAU47281;AAU47282;AAU47284;AAU47285;AAU47287;AAU47288;AAU47290;AAU47291;AAU47293;AAU47294;AAU47296;AAU47297;AAU47299;AAU47300;AAU47302;AAU47303;AAU47305;AAU47306;AAU47308;AAU47309;AAU47311;AAU47312;AAU47314;AAU47315;AAU47317;AAU47318;AAU47320;AAU47321;AAU47323;AAU47324;AAU47326;AAU47327;AAW71991;ABA10403;ABA10404;ABA10406;ABA10407;ABA10409;ABA10410;ABA10412;ABA10413;ABA10415;ABA10416;ABA10418;ABA10419;ABA10421;ABA10422;ABA10424;ABA10425;ABA10427;ABA10428;ABA10430;ABA10431;ABA10433;ABA10434;ABA10436;ABA10437;ABA10439;ABA10440;ABA10442;ABA10443;ABA10445;ABA10446;ABM82892;ABM86081;AET81017;AET81018;AET81019;AET81020;AET81021;AET81022;AET81023;AET81024;AET81025;AET81026;AET81027;AET81028;AET81029;AET81030;AET81031;AET81032;AET81033;AET81034;AET81035;AET81036;AET81037;AET81038;BAF84282;CAA59770;CAD97672;NP_001116423;NP_002027;Q16570 Hs.153381 1793642;2147181;2171832 IB2132;PMC24175P1;RH70526 CCBP1;CD234;DARC;Dfy;FY;GPD;GpFy;WBCQ1 Duffy antigen/chemokine receptor;Duffy blood group antigen;Duffy blood group, atypical chemokine receptor;Duffy blood group, chemokine receptor;Fy glycoprotein;OTTHUMP00000035293;OTTHUMP00000035294;OTTHUMP00000035295;atypical chemokine receptor 1;glycoprotein D;plasmodium vivax receptor APPROVED protein-coding ENSG00000213088 HGNC:4035 00192 611162;613665 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 14 q11.2 3390463 3427528 - 23527773 23564823 - 23058564 23095614 - 1580863;6480464;6907045;8554872 10490026;11208865;12393560;12477932;12665594;14729942;15302935;15324660;15998806;16051665;16083285;16159877;16169070;16177823;16314458;16537548;16964243;17081983;17332742;17370265;17409846;18029348;18250153;18951082;19322201;19387494;19454010;19471022;19596686;19615784;19668232;19759913;20195357;20639865;20800603;21139048;21145461;21693764;21890473;22113938;22174317;22365833;22388736;22446626;22586326;22939629;22952844;23084401;23205493;23602568;23752268;24250222;24444330;24457600;24550385;24639526;24654937;24816145;25027693;9734811 22985 B4DQZ7;E7EQT4;G3V3B0;G3V3T3;Q9UKV3;S4R3H4 AB014570;ABBA01061305;ABBA01061306;ABBA01061307;AF124726;AF124727;AF124728;AK299034;AL050382;AL117258;AL132780;AL833228;AMYH02028864;BC032770;BC140805;BX247975;CH471078;CX786860;NG_030461;NM_001164814;NM_001164815;NM_001164816;NM_001164817;NM_014977;XM_005267415;XM_005267416;XM_005267418;XM_006720081;XR_429295;XR_429296;XR_429297 AAD56724;AAD56725;AAD56726;AAI40806;BAA31645;BAG61109;CAB43681;CAD62309;CAH10608;EAW66186;EAW66187;EAW66188;NP_001158286;NP_001158287;NP_001158288;NP_001158289;NP_055792;Q9UKV3;XP_005267472;XP_005267473;XP_005267475;XP_006720144 Hs.124490 1738939;1771581;1771873;1847807;2183045;5491485 D14S791;G35632;MARC_15355-15356:1013456014:1;RH44611;SGC34831;WI-20153 ACN;DKFZp667N107;KIAA0670;fSAP152 ACINUS;OTTHUMP00000164548;OTTHUMP00000164549;OTTHUMP00000164550;OTTHUMP00000164551;OTTHUMP00000246163;OTTHUMP00000246164;apoptotic chromatin condensation inducer in the nucleus;functional spliceosome-associated protein 152 APPROVED protein-coding ENSG00000100813 HGNC:17066 05191 604562 REVIEWED 1343783 ACLS acrocallosal syndrome ASSOCIATED WITH Acrocallosal Syndrome (inferred); HYDROLETHALUS SYNDROME 2 (inferred) 7240710 46 HGNC:114 200990;614120 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 17 q21.2 36674340 36725809 - 40023169 40086795 - 41866916 41930542 - 1304191;1300342;1580863;1300238;2317316;2317309;6480464;6907045 11735100;1371749;17882277;704404;734904 10653665;12477932;14681844;14702039;15302935;15489334;15592455;16009940;16196087;16751776;17081983;17353931;17550899;17955473;18029348;18660489;18681781;18781797;18922930;19019082;19056867;19296078;19380743;19461003;19738201;19795461;19946888;20558738;20615871;20693577;20800603;20811636;20877624;21081666;21139048;21145461;21320693;21454710;21726077;2176822;21832049;21853274;21890473;21906983;21963094;22053931;22102020;22266777;22505724;22586326;22657152;22718913;22787121;22797925;22863883;23000965;23125841;23225248;23314748;23506848;23807225;23862649;23886516;24051091;24132143;24310723;24337577;24399297;24550385;24583282;24654937;24816145;25027693;3305493;6109001;6801225;8088842;8944226;9116495 47 B4E3P0;K7EIE7;K7ESG8;P53396 AB210035;ABBA01006446;ABBA01006447;ABBA01006448;AC091172;AC125257;AK095084;AK295675;AK304802;AK312315;AMYH02033415;AMYH02033416;AMYH02033417;BC006195;BG037168;CH471152;DQ575356;NM_001096;NM_198830;U18197;X64330;XM_005257393;XM_005257394;XM_005257395 AAB60340;AAH06195;ADZ15525;BAC04484;BAE06117;BAG58532;BAG65552;CAA45614;EAW60777;EAW60778;EAW60779;EAW60780;EAW60781;NP_001087;NP_942127;P53396;XP_005257450;XP_005257451;XP_005257452 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 HGNC:115 00155 108728 REVIEWED 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 + 132316081 132321488 + 132597237 132602644 + 6480464 10706668;10734104;10767544;11134065;11981810;12477932;15489334;16148;16791897;19383822;21988832;23121557;23251661;23314186;23341447;23462454;24260134;8125298;9469451 51554 H0Y9Z2;Q9NPB9 ABBA01059184;ABBA01059185;AC020632;AF110640;AF193507;AF233281;AK225927;AK304461;AK313923;AMYH02007689;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;1797360 CCRL1_2475;D6S2427 CC-CKR-11;CCBP2;CCR-11;CCR10;CCR11;CCRL1;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 (C-C motif) receptor-like 1;chemokine, cc motif, receptor-like protein 1;orphan seven-transmembrane receptor, chemokine related APPROVED protein-coding ENSG00000129048 HGNC: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 2 q37.3 231191070 231203687 + 237469424 237491001 + 236560781 236582358 + 1580863;6480464 10623723;12118328;12477932;1315461;15489334;15815621;16107333;16148;16455976;1662665;1675791;16940167;17363734;17474147;17898181;18057003;18214534;18240029;18577758;18653785;18956235;19309748;19525223;19641136;19794961;20018651;20036838;20056178;20068066;20109310;20161793;20233927;20380740;20388803;20525755;20529825;20578990;20617529;20861157;20887389;20889540;20956518;21316111;21349998;21398406;21627360;21655198;21695171;21730065;21778049;21857817;21906874;21963094;21986127;22070874;22083878;22088972;22152016;22173725;22180778;22232208;22266857;22300987;22457824;22472349;22524658;22525723;22531719;22645275;22736438;22736769;22745793;22916293;22956548;22978759;22987307;23000965;23039915;23070788;23244149;23244336;23279723;23344887;23352615;23555768;23599431;23636305;23677384;23773308;23865743;23894550;23921147;23979133;24002596;24040160;24074251;24116850;24184476;24191282;24255072;24259140;24277075;24363762;24416254;24819308;25015289;2834384;8198609 57007 P25106 ABBA01042574;AC079611;AF030297;AK291659;AMYH02006056;BC008459;BC036661;BM925428;BP426139;CH471063;DB455412;DQ822477;JA643399;JA643405;M64749;NM_020311;U67784;U73141;XM_005246097;XM_005246098;XM_006712640 AAA62370;AAB16913;AAB18130;AAB94130;AAH36661;AAX93086;ABH01258;ABM82167;ABM85352;BAF84348;CCE67098;CCE67101;EAW71092;NP_064707;P25106;XP_005246154;XP_005246155;XP_006712703 Hs.471751 1656853;2166969 RH78466;SHGC-57926 CMKOR1;CXC-R7;CXCR-7;CXCR7;GPR159;RDC-1;RDC1 C-X-C chemokine receptor type 7;G protein-coupled receptor;G-protein coupled receptor 159;G-protein coupled receptor RDC1 homolog;OTTHUMP00000164411;OTTHUMP00000203011;chemokine (C-X-C motif) receptor 7;chemokine orphan receptor 1 APPROVED protein-coding ENSG00000144476 HGNC:23692 09882 610376 REVIEWED 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. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jan 2014] 9 9 9 p21.1 32314541 32380796 + 32384601 32450834 + 32384603 32450836 + 1300343;1580863;1300239;6480464;6907045 704405;734906 10419470;10944468;11783942;11812787;12196178;12477932;12572667;12855587;12972614;15099026;15342556;15349772;15489334;15543932;15938636;16027165;16144863;16344560;16407072;16424901;16503547;16527810;17127713;17200797;17242182;17244191;1738601;17521334;17604281;17613866;17877204;18029348;18262302;1903202;19056867;1946430;19688112;19762596;19762597;20354189;20558735;20569198;20574843;20877624;21139048;21360641;2172968;21832049;21890473;21906983;21963094;22020773;22331484;22502979;22505724;22544036;22561531;22863883;22939629;23000965;23382691;23615448;23817740;23935819;24778179;2771641;8041788;8262977;8764614;9020582 48 P21399;Q5VZA6;Q9HBB2;V9HWB7 AB209480;ABBA01065085;ABBA01065086;AF261088;AK057904;AK308752;AL161783;AMYH02019407;BC018103;BP287929;CH471071;DA103947;DA409113;DA780353;DQ496106;EU794627;M58510;NM_001278352;NM_002197;XM_005251476;XM_006716777;Z11559 AAA69900;AAF99681;AAH18103;ABF47095;ACJ13681;BAD92717;CAA77651;EAW58549;EAW58550;EAW58551;EAW58552;NP_001265281;NP_002188;P21399;XP_005251533;XP_006716840 Hs.567229 1653876;1715089;1763049;1774810 D9S1955;RH119496;RH70753;SHGC-146792 HEL60;IRE-BP 1;IREB1;IREBP1;IRP1 ACONS;IREBP;OTTHUMP00000021176;OTTHUMP00000021177;aconitate hydratase;aconitate hydratase, cytoplasmic;citrate hydro-lyase;cytoplasmic aconitate hydratase;epididymis luminal protein 60;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 HGNC:117 00013 100880 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 + 135595994 135659604 + 134838430 134902076 + 632265;1580863;6480464;6907045;8554872 12140278 12477932;15489334;16189514;19843166;21292315;23251661;23955123 130013 Q6ZV40;Q8TDX5 AB071418;ABBA01028189;ABBA01028190;AC016725;AK125008;AMYH02004835;AMYH02004836;BC016018;BC107420;BG428338;CH471058;NM_138326;XM_005263586;XM_005263587;XM_005263588;XM_005263589;XM_005263590 AAH16018;AAI07421;AAY14997;BAB86938;BAC86023;EAX11649;EAX11650;EAX11651;EAX11652;NP_612199;Q8TDX5;XP_005263643;XP_005263644;XP_005263645;XP_005263646;XP_005263647 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 HGNC:19288 12326 608889 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 22 q13.2 25671513 25731364 + 41865099 41924993 + 41469125 41528989 + 1300344;1580863;1300048;2306877;6480464;6907045;8699517;7240710;8554872 734909;9712727 1052766;10591208;11258795;12198491;12477932;12601813;12746427;14972331;15461802;15489334;15952740;1602151;16159877;16236267;16598741;16625280;16713569;18029348;18781797;19110265;19405953;1946331;19524665;19738201;20301317;20607720;20877624;21139048;21832049;21890473;22405087;22623428;22939629;23000965;23550275;23709747;24337577;24429287;24583282;24654937;24816145;25027693;7192199;752476;752478;752479;8443405;879710;9020582;9630632 50 A2A274;B4DJW1;B4DW08;Q99798 AA724140;ABBA01055639;ABBA01055640;ABBA01055641;ABBA01055642;AF093096;AK293562;AK296260;AK297213;AK301321;AK302691;AK314845;AL008582;AL023553;AMYH02038440;AMYH02038441;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 ICRD;MGC20605;MGC33908 ACONM;OTTHUMP00000165920;OTTHUMP00000165921;aconitate hydratase, mitochondrial;citrate hydro-lyase;mitochondrial aconitase (nuclear aco2 gene) APPROVED protein-coding ENSG00000100412 HGNC:118 00012 100850;614559 REVIEWED 1313002 ACN9 ACN9 homolog (S. cerevisiae) INVOLVED IN regulation of gluconeogenesis (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN mitochondrial intermembrane space (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; cobalt dichloride 7 7 7 q21.3 91439813 91504987 + 96745905 96811075 + 97116593 97181763 + 1580863;6480464;8554872 10103055;12477932;12690205;12853948;15489334;18163977;19913121;20628086;20877624;23719583 57001 F8W9V1;Q9NRP4 ABBA01045754;AC073421;AC073900;AF201933;AMYH02016315;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 HGNC:21752 16471 615773 VALIDATED 736721 ACOT12 acyl-CoA thioesterase 12 ENCODES a protein that exhibits acetyl-CoA hydrolase activity (ortholog); INVOLVED IN acyl-CoA metabolic process (ortholog); PARTICIPATES IN pyruvate metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; cyclosporin A 5 5 5 q14.1 76530237 76594485 - 80625731 80689988 - 81329921 81394169 - 1300048;6480464;6907045;8554872 11322891;12477932;12767336;14702039;15489334;16103133;16951743;20379614;22863734 134526 Q8WYK0 AB078619;ABBA01062055;AC008411;AC010623;AK122960;AMYH02011681;AMYH02011682;AMYH02011683;BC075010;BC075011;BC089437;CH471084;NM_130767;XM_006714531;XM_006714532 AAH75010;AAH75011;AAH89437;BAB84022;BAG53821;EAW95874;EAW95875;NP_570123;Q8WYK0;XP_006714594;XP_006714595 Hs.591756 5093356 G32671 CACH-1;Cach;MGC105114;STARD15;hCACH-1 OTTHUMP00000161980;START domain-containing protein 15;StAR-related lipid transfer (START) domain containing 15;THEAL;acyl-CoA thioester hydrolase 12;acyl-coenzyme A thioesterase 12;cytoplasmic acetyl-CoA hydrolase 1;cytoplasmic acetyl-coa hydrolase;cytosolic acetyl-CoA hydrolase protein-coding ENSG00000172497 HGNC:24436 16680 614315 VALIDATED 1605748 ACOT1 acyl-CoA thioesterase 1 ENCODES a protein that exhibits acyl-CoA hydrolase activity; INVOLVED IN acyl-CoA metabolic process; long-chain fatty acid metabolic process; very long-chain fatty acid metabolic process; FOUND IN cytosol; INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 14 14 14 q24.3 33178727 33185623 - 74003862 74010503 + 73537224 73543794 + 6480464 12477932;16103133;16940157;18029348;20736409;21890473;21963094;21987572;22939629;24654937 641371 E9KL42;G3V4F2;Q86TX2 ABBA01030756;AC005225;AC245368;AK300886;BC127747;BC127748;BC132889;BC132891;BC143042;BC144425;BX161396;DQ082754;GU727640;NM_001037161 AAI27748;AAI27749;AAI32890;AAI32892;AAI43043;AAI44426;AAZ31236;ADU87641;BAG62528;CAD61883;NP_001032238;Q86TX2 Hs.446685;Hs.568046 1653277;1740767;2110049;2112144;2116333;2138076;2138696 A002Q22;D14S1209;D14S1367;D14S646E;G35993;G38315;ZAP128_9204 ACH2;CTE-1;CTE-I;CTE-Ib;LACH2 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 HGNC:33128 614313 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 + 55007930 55100417 + 54548134 54634744 + 6480464 11696000;12477932;14702039;15489334;16103133;16344560;19056867;19913121;20379614;20470824;20628086;21738568;22897136;8125298;9734811 26027 Q8WXI4 AB014607;ABBA01074711;ABBA01074712;AC099796;AF416921;AF416922;AK023937;AK091112;AK223570;AL590093;AL713723;AMYH02001054;AMYH02001055;AMYH02001056;AMYH02001057;AMYH02001058;BC001517;BC093844;BC093846;CH471059;DA121227;KF495953;KF495956;NM_015547;NM_147161 AAH01517;AAH93844;AAH93846;AAL40937;AAL40938;BAA31682;BAB14734;BAD97290;EAX06682;EAX06683;EAX06684;NP_056362;NP_671517;Q8WXI4 Hs.745173 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 HGNC:18156 07075 606803 REVIEWED 1605747 ACOT6 acyl-CoA thioesterase 6 ENCODES a protein that exhibits carboxylic ester hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN cytosol; INTERACTS WITH benzo[a]pyrene (ortholog); ethanol (ortholog); perfluorooctanoic acid (ortholog) 14 14 14 q24.3 54119631 54122671 + 74083548 74086592 + 73616844 73619888 + 6480464 12477932;16103133;16940157;21822266 641372 G3V3W6;Q3I5F7 ABBA01030750;AC005225;AC245368;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 HGNC:33159 614267 VALIDATED 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 + 74034324 74042362 + 73567620 73575658 + 1625728;2315862;2315861;6480464;8554872 15292030;16979414;17438340 10944470;12477932;12665801;14702039;15007068;15489334;16103133;16940157;17353931;19497300;20178365;20379614;20877624;21139048;21890473;21963094;21987572;7596406;8125298 10965 B3KSA0;P49753 ABBA01030752;AC005225;AC245368;AI537078;AK001939;AK093131;AK223635;AY005822;BC004436;BC006335;BC006500;DQ082755;L40401;NM_006821;NR_046028;XM_006720007 AAC42007;AAF97985;AAH04436;AAH06335;AAH06500;AAZ31237;ABM84414;ABM87405;BAA91989;BAD97355;BAG52662;NP_006812;P49753;XP_006720070 Hs.446685 1653277;1740767;2110049;2112144;2112152;2116333;2138696 A002Q22;D14S1209;D14S1367;D14S1377;D14S646E;G38315;ZAP128_9204 CTE-IA;CTE1A;MTE1;PTE2;PTE2A;ZAP128 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 HGNC:18431 10173 609972 VALIDATED 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 20 q13.12 41180856 41196530 - 44470360 44486048 - 45841721 45857409 - 1580863;6480464;8554872 10092594;10799608;10807905;10944470;11549316;11755680;11780052;12477932;14702039;14709540;15194431;15489334;16009940;16103133;16141203;16335799;16756494;16940157;17314511;17624024;20178365;21139048;21824805;22002062;22190034;22810585;23540296;24457600;24654937;24816145;9153233;9299485 10005 E9PIS4;E9PJN0;E9PMC4;E9PRD4;F6VBM3;H0Y698;H7C5A7;O14734;Q9BR14 ABBA01052667;ABBA01052668;AF014404;AF124264;AK056668;AK292494;AK296973;AK298783;AL008726;AMYH02037154;BC117155;BC117157;BI911038;BM986979;CH471077;CR541771;CR541778;DB470803;KF456922;NM_005469;X86032;XM_005260239;XM_005260240;XR_244130 AAB71665;AAD27616;AAI17156;AAI17158;ADR82946;BAF85183;BAG51780;BAG59516;BAG60922;CAA60024;CAG46570;CAG46577;EAW75794;EAW75795;EAW75796;EAW75797;EAW75798;NP_005460;O14734;XP_005260296;XP_005260297 Hs.444776 1678925;1848243;2118627;2152180 D20S569E;RH12567;RH71172;RH80960 PTE-1;PTE-2;PTE1;PTE2;hACTE-III;hACTEIII;hTE 4,8-dimethylnonanoyl-coa thioesterase;HIV-Nef associated acyl-CoA thioesterase;HIV-Nef-associated acyl-CoA thioesterase;HNAACTE;OTTHUMP00000031675;OTTHUMP00000214962;acyl-coenzyme A thioesterase 8;choloyl-CoA hydrolase;choloyl-coenzyme A thioesterase;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 HGNC:15919 06998 608123 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 - 6324332 6453826 - 6264272 6393766 - 6480464 10578051;12435388;12477932;14702039;15489334;15592755;15731883;16103133;16710414;16713569;18029348;19056867;19305408;19724895;19851296;20198315;21044950;21110914;21139048;21319273;21890473;21906983;21963094;22053931;22505724;22863883;23000965;24816145;25027693 11332 B4DUX0;K7EKP8;O00154 AB074415;AB074416;AB074417;AB074418;AB074419;ABBA01035443;ABBA01035444;ABBA01035445;ABBA01035446;ABBA01035447;ABBA01035448;AK057168;AK289572;AK290097;AK291583;AK292202;AK300831;AK304465;AL031847;AL031848;AL702662;AMYH02000171;AMYH02000172;AMYH02000173;AMYH02000174;BC017365;BG332214;BM807217;BQ067921;BT006888;BU594651;CH471130;D88894;NM_007274;NM_181864;NM_181865;NM_181866;U91316;XM_005263427 AAB61211;AAH17365;AAP35534;BAA24350;BAC20174;BAC20175;BAC20176;BAC20177;BAC20178;BAF82261;BAF82786;BAF84272;BAF84891;BAG51874;BAG62482;BAH14193;EAW71527;EAW71528;EAW71529;EAW71530;EAW71531;EAW71532;NP_009205;NP_863654;NP_863655;NP_863656;O00154;XP_005263484 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;brain acyl-CoA hydrolase;cytosolic acyl coenzyme A thioester hydrolase;long chain acyl-CoA thioester hydrolase APPROVED protein-coding ENSG00000097021 HGNC:24157 12517 602587 REVIEWED 1605006 ACOT4 acyl-CoA thioesterase 4 ENCODES a protein that exhibits acyl-CoA hydrolase activity; receptor binding; succinyl-CoA hydrolase activity; INVOLVED IN acyl-CoA metabolic process; dicarboxylic acid catabolic process; dicarboxylic acid metabolic process; FOUND IN peroxisome; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; coumestrol 14 14 14 q24.3 54094503 54098556 + 74058410 74062470 + 73591659 73595766 + 6480464 10567408;10944470;12477932;14702039;15489334;16103133;16141203;16940157;18029348;20178365;7596406 122970 Q8N9L9 ABBA01030751;AC005225;AC245368;AK055797;AK094223;BC031799;BC090945;BC117341;BC117343;BX248023;BX248047;CH471061;NM_152331;XM_006720034 AAH31799;AAH90945;AAI17342;AAI17344;BAB71017;BAC04313;CAD62346;CAD62354;EAW81120;EAW81121;NP_689544;Q8N9L9;XP_006720097 Hs.49433 2217868 PTE2B_3639 PTE-2b;PTE-Ib;PTE1B;PTE2B OTTHUMP00000241252;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 HGNC:19748 17928 614314 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 + 24667263 24705297 + 24667035 24705069 + 1580863;6480464 10931946;12477932;14574404;14702039;15489334;16344560;16934754;17045243;17704541;18095154;18624398;19170545;19405909;19738201;20877624;21139048;21319273;22262880;22939629;23954868;24250222;24816145;8889548 55856 Q9NPJ3 ABBA01066538;AF155649;AF220186;AF274952;AK000508;AK309738;AL031775;AMYH02013327;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 HGNC:20999 07158 615652 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 - 23721777 23784592 - 23703660 23766475 - 6480464 10383425;10810093;12477932;14702039;16103133;18781797;20186120;20360068;21139048;21890473;21906983;21963094;22114354;22268729;22323290;22797925;23473034;23956138 23597 C9J7L8;F8WDI2;H7C5Q2;Q9Y305 ABBA01072215;ABBA01072216;ABBA01072217;ABBA01072218;ABBA01072219;ABBA01072220;ABBA01072221;ABBA01072222;AC093011;AC131011;AF132950;AF241787;AK000659;AK024337;AL548456;AMYH02039031;AMYH02039032;BC012573;BC136671;BC144360;BC144370;BX648512;CH471074;NG_016780;NM_001033583;NM_001037171;XM_005274470;XM_005274471;XM_005274472 AAD27725;AAG44475;AAH12573;AAI36672;AAI44361;ADZ15671;BAG51291;EAW98997;EAW98998;NP_001028755;NP_001032248;Q9Y305;XP_005274527;XP_005274528;XP_005274529 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 HGNC:17152 06438 300862 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 2 p25 327509 340926 + 264869 278283 + 264869 278283 + 1625289;1358577;1625288;1580863;1300048;2313182;2313184;2313187;2313188;2313186;2313179;2313180;2313183;6480464;6484113;6907045;8554872 11912546;12231445;12409270;12495297;15281007;15586390;17353188;19246900;8620937;9198310 10336608;10608891;10940933;11369750;11436564;11534018;11785295;11963573;11971983;11976341;12100313;12167657;12418966;12438242;12477932;12640337;12815062;12942785;1304913;14637146;15230135;15359537;15489334;1587862;15951569;15974295;15988697;16036221;16169070;16189514;16224193;16253994;1627603;16344560;16762482;16893901;16973312;17171650;17353931;17390764;17472574;17565542;17678914;17703100;18029348;18262048;18490013;18604186;18768081;18786445;18992867;19056867;19217450;1939112;19569002;19570551;19622628;19738201;19789510;19855922;19913121;20152999;20379614;20581655;20587610;20628086;20805743;20816195;21139048;21145461;21319273;21423239;21538645;21644204;21767392;21853274;21890473;22035742;22064183;22428720;22505724;22623428;22692348;22810585;22854047;22939629;22990118;23197232;23278455;23453606;23584899;23621699;23645747;23959645;24250222;24797263;4065897;4356849;457131;736044;8364553;8586411;9038134;9499402;9684876;9705307 52 D3YTI2;F2Z2Q9;F2Z2R9;G5E9R5;P24666;Q59EH3 AB209838;ABBA01035631;AC079779;AK289934;AK291861;AMYH02003161;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;XR_426957;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 HGNC:122 08881 171500 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 17 q25.1 70527638 70565551 - 73937588 73975515 - 75941507 75979434 - 1298651;1580863;6480464;7240710;8554872;8699517 8159712 10856712;10960480;11076863;11230166;11815777;12477932;1464743;14702039;15489334;15489336;16381901;16396496;16756494;17081983;17458872;17603022;17881773;18281296;18536048;18660489;19946888;20178365;20195242;21139048;22002062;22939629;23933200;24418004;24501781;24816145;7668838;7876265;8040306;8117268;8125298;8507686;8798738 51 I3L0T4;I3L2U4;I3L4S5;K7ELT1;K7ENF1;K7ESC7;Q15067 ABBA01028765;ABBA01028766;ABBA01028767;AC040980;AC087289;AK095501;AK225897;AK291793;AK292965;AK296409;AK300447;AK308218;AMYH02034002;AMYH02034003;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;AOX;MGC1198;SCOX PALMCOX;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 HGNC:119 02030 264470;609751 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 19 p13.2 11580213 11584539 - 11685475 11689801 - 11574660 11578986 - 1300346;1580863;1300048;2315882;2315909;2315910;6480464;6907045;8699517;8554872;7240710 19699734;19736603;19821772;734913 10389595;10862785;11983200;12009023;12073156;12450668;12477932;12589973;12820342;12845688;12901871;15342556;15489334;15542543;15701839;15878315;15950921;15993892;16169070;16200454;16280328;16620768;16869970;17088078;17207965;17357281;17997709;18053985;18221403;18285546;18320034;18410226;18421493;18703035;1872798;18979172;19010793;19026169;19765782;20416078;20932965;20967488;21217752;21217755;21300043;21386798;21890473;21900206;22335021;22357739;22490295;22517558;22844067;2334436;2338077;23383108;23604121;23737138;23990468;2473026;2610679;2775236;2808373;2909539;8125298;8188227;8195113;8200916;8359686;8449511;8889548;9521821 54 K7EIP0;K7EJD9;K7ES19;K7ESF2;P13686 ABBA01029833;ABBA01029834;AC020947;AK225912;AK290717;AK307164;AMYH02035531;BC025414;BC111014;BM708166;BP367008;BX365007;CH471106;CR457078;FB775570;J04430;NG_028127;NM_001111034;NM_001111035;NM_001111036;NM_001611;X14618;X67123;XM_005259938;XM_005259939 AAA76849;AAH25414;AAI11015;ACE87273;ADQ32269;BAF83406;CAA32771;CAG33359;CAV30742;EAW84232;EAW84233;EAW84234;NP_001104504;NP_001104505;NP_001104506;NP_001602;P13686;XP_005259995;XP_005259996 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 HGNC:124 01374 171640;607944 REVIEWED 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 11 p11.2 47400080 47409684 - 47260853 47270457 - 47239302 47248906 - 1300245;1580863;1300048;4892631;6480464;6907045;8699517;8554872;7240710 18690537;9228031 11801736;12477932;15489334;16196087;16344560;17357082;18976975;19056867;19064571;19946888;21987572;22268729;22939629;2776754;3160696;3191910;3904632;5410815;6164873;6193776;6651479;69583;6970673;730175;7576159;8619474;9040486;9110174;975882 53 B7Z6U3;B7Z7D2;E9PHY0;E9PKW9;E9PP23;E9PQW9;E9PQY3;G5EA28;P11117 ABBA01060721;AC018410;AK298122;AK298439;AK299382;AK300569;AK300911;AK300931;AK301860;AK303894;AK308512;AK311431;AMYH02024728;AY007137;BC003160;BC093010;CH471064;DA382854;DC337294;NG_023296;NM_001131064;NM_001610;X12548;X15525;X15535;XM_005252984;XM_005252985;XR_242812 AAH03160;AAH93010;ABM83595;ABM86839;BAH12728;BAH12788;BAH13021;BAH13304;BAH13374;BAH13379;BAH13568;BAH14075;CAA31064;CAA33542;EAW67950;EAW67951;NP_001124536;NP_001601;P11117;XP_005253041;XP_005253042 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 HGNC:123 01375 171650;200950 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 - 8368009 8442452 - 8366282 8440725 - 1580863;1300048;6480464 12477932;15231748;15489334;15599942;16344560;16756494;19946888;20178365;20677014;20877624;21659360;21906983;22505724;8125298;8387517;8993592;9271077 8310 D6RJ89;O15254 ABBA01008698;ABBA01008699;AC104825;AK225080;AK313242;AMYH02008697;AMYH02008698;AMYH02008699;BC017053;CA306669;CH471131;DA949869;HB873065;HB882927;HB894256;HC930474;HC940336;HC951665;KF457738;NM_001101667;NM_003501;XM_005248011;XM_005248012;XM_005248013;Y11411 AAH17053;BAG36053;CAA72214;CBF60575;CBF65729;CBF73112;CBU85819;CBU90600;CBU96016;EAW82339;EAW82340;EAW82341;EAW82342;NP_001095137;NP_003492;O15254;XP_005248068;XP_005248069;XP_005248070 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 HGNC:121 04552 603402 VALIDATED 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 - 58490863 58522929 - 58505136 58537202 - 1580863;1300345;1300244;6480464;6907045;8554872 704421;734910 12477932;15489334;16756494;20178365;20379614;2079609;21343950;8387517;8943006;8993592;9070889 8309 C9J0G0;C9JY29;H7C4Q2;H7C4Y2;H7C573;Q99424 ABBA01024380;ABBA01024381;AC116036;AJ001541;AK298402;AK313512;AMYH02006890;AMYH02006891;BC033517;BC047700;BG698950;BI490007;CH471055;HB873093;HB882955;HB894284;HC930502;HC940364;HC951693;NM_003500;X95190;XM_005265505;XM_005265506;XM_006713340 AAH47700;BAG36292;BAG60633;CAA64489;CAB65596;CBF60593;CBF65743;CBF73142;CBU85833;CBU90614;CBU96030;EAW65375;EAW65376;EAW65377;NP_003491;Q99424;XP_005265562;XP_005265563;XP_006713403 Hs.444959 1663132;5017130 RH71302;SHGC-33100 BCOX;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;BRCACOX;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 HGNC:120 09037 601641 REVIEWED 1314899 ACP6 acid phosphatase 6, lysophosphatidic ENCODES a protein that exhibits lysophosphatidic acid phosphatase activity; INVOLVED IN dephosphorylation; lysobisphosphatidic acid metabolic process; phospholipid metabolic process; PARTICIPATES IN riboflavin metabolic pathway; FOUND IN cytoplasm; mitochondrion; INTERACTS WITH copper(2+) sulfate; isotretinoin; valproic acid 1 1 1 q21 121841363 121864830 + 147119168 147142634 - 147647366 147670512 - 1580863;6480464;6907045 10506173;12010880;12477932;12975309;14702039;15280042;15340161;15489334;16169070;16710414;17207965;17353931;20877624;23807634;24722188;9820827 51205 Q9NPH0;V9GZ71;X5D289;X5D319 AB030039;AB031478;AB209248;ABBA01004401;ABBA01004402;AC241644;AK000657;AK308593;AK310693;AL359207;AL520992;AY358552;BC009965;BC011644;BC034686;CH471223;CR457101;KJ534759;KJ535036;KJ535044;KJ535055;NM_016361;XM_005277400;XM_006711363;XM_006711364 AAH09965;AAH34686;AAQ88916;ADQ32397;AHW56399;AHW56675;AHW56683;AHW56694;BAA89311;BAA91310;BAA94309;BAD92485;CAG33382;CAI15199;EAW50931;NP_057445;Q9NPH0;XP_005277457;XP_006711426;XP_006711427 Hs.562154 1677254;1722567;2125503 G60214;RH45458;RH93817 ACPL1;LPAP;PACPL1 OTTHUMP00000015904;acid phosphatase like 1;acid phosphatase-like protein 1;lysophosphatidic acid phosphatase 6;lysophosphatidic acid phosphatase type 6 protein-coding HGNC:29609 16472 611471 VALIDATED 1315641 ACOXL acyl-CoA oxidase-like ENCODES a protein that exhibits acyl-CoA dehydrogenase activity (inferred); acyl-CoA oxidase activity (inferred); oxidoreductase activity, acting on the CH-CH group of donors (inferred); INVOLVED IN fatty acid beta-oxidation (inferred); oxidation-reduction process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN peroxisome (inferred); INTERACTS WITH benzo[a]pyrene; methyl methanesulfonate; (R)-lipoic acid (ortholog) 2 2 2 q13 105140860 105526394 + 111490150 111875799 + 110732573 111118222 + 1580863;6480464;8554872 12477932;14702039;15146197;18758461;19773279;20332261;20731705;21145461;21738478;22197929;22219177;22566634;22700719;23222517;23770605;24292274;24390342 55289 B4DU63;C9JQI3;H7C0A6;H7C2M3;H7C345;Q9NUZ1 ABBA01001561;AC023131;AC096591;AC096670;AC114776;AK001904;AK300513;AMYH02004567;AMYH02004568;AMYH02004569;AMYH02004570;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 HGNC:25621 12418 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 22 q13.33 35052700 35059775 + 51176652 51183727 + 50738224 50745299 + 1580863;6480464 10369396;10418103;10734459;11076863;11739644;11839395;12398221;12477932;12801583;12931362;15461802;15782160;15950651;15950652;15955892;1628652;16344560;1783391;1907596;1937464;2114285;22452365;2298447;22990118;23297503;23675907;2493394;2550339;2606479;3880736;6357995;6802470;6815104;7521127 49 E9PLV5;P10323 ABBA01042613;AC000036;AC002056;AK310316;AMYH02038627;AMYH02038628;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 light and heavy chain prepropeptide;preproacrosin;proacrosin APPROVED protein-coding ENSG00000100312 HGNC:126 06342 102480 REVIEWED 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 + 51293672 51298481 + 50790415 50795224 + 6480464;6907045;8554872 11414767;15219672 93650 Q9BZG2 ABBA01068298;AC010325;AF321918;AMYH02036363;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 HGNC: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 3 q22.1 130462489 130513425 + 132036211 132087146 + 132317367 132368302 + 1300346;1300246;1580863;1300048;2301055;2301054;2301052;6480464;6907045 15240830;16024648;17991541;704423;734913 10452601;10477906;10506719;10639192;10851066;11067847;11377343;11547122;11739538;11784334;11833784;11983210;12032838;12362977;12477932;12525165;12719131;12962324;1375464;14623260;14690244;15280042;15578709;15862967;15985366;16004602;16076555;16196087;1696855;1699876;17455230;17638863;17658863;17897319;18083097;18940592;19056867;19108401;19301031;19403677;19636017;19759923;1989985;19902966;20379614;20392611;20498373;20645695;21487525;22082367;22090109;22354963;23314347;23897810;2395659;2411954;24338683;24854630;2712834;2842184;2965059;480493;76687;7923807;7951074;8037752;8110833;8132635;8244395;8407898;9187691;9584847;9705354;9708626;9804805 55 E9PFE6;H0Y8T3;P15309 AA578274;AB102888;ABBA01059186;ABBA01059187;AC020633;AK300540;AMYH02007687;AW136372;BC007460;BC008493;BC016344;BC017877;BQ100881;CH471052;DC383453;M24902;M34840;M97589;NM_001099;NM_001134194;NM_001292037;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;NP_001278966;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 HGNC:125 01378 171790 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 - 6747241 6756594 - 6638076 6647414 - 1580863;6480464 11248070;12477932;15489334;16301813;20876808;22651134;23077236;24294369 84519 E7EP66;F5H2C2;F5H3P4;F5H5S8;Q8NEB7 AB051833;ABBA01017650;AC135892;AF085884;AK302290;AK311572;AK312782;AMYH02025953;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 HGNC:17195 16322 608352 REVIEWED 1346265 ACRC acidic repeat containing FOUND IN nucleus (inferred); INTERACTS WITH (-)-demecolcine; 8-bromo-3',5'-cyclic AMP; benzo[a]pyrene X X X q13.1 71150915 71185673 + 70797840 70833440 + 71577990 71613590 + 1580863;6480464 11714101;12477932;14702039;16344560 93953 Q96QF7 ABBA01067759;ABBA01067760;ABBA01067761;ABBA01067762;ABBA01067763;ABBA01067764;ABBA01067765;ABBA01067766;ABBA01067767;AJ311392;AK097433;AK127607;AL590763;AMYH02039677;BC136259;CH471132;DB073623;NM_052957;XM_005262312;XM_005262313;XM_006724716 AAI36260;BAC05051;BAG54533;CAC60255;EAX05284;NP_443189;Q96QF7;XP_005262369;XP_005262370;XP_006724779 Hs.135167 2218970;5022578;5022651 ACRC__4245;D11S2921;D1S1423 NAAR1 OTTHUMP00000032171;OTTHUMP00000032172;acidic repeat-containing protein;putative nuclear protein protein-coding ENSG00000147174 HGNC: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 11 q24.2 122702479 122711196 - 125542229 125550809 - 125672334 125680914 - 1580863;6480464 11730901;12477932;15489334;1637938;1693291;21488928;2298314;7619499;7888499;8125298;8288254;8373955 56 AAB34927;AAB34928;AAB34929;AAB34930;AAB34931;AAB34933;AAB34935;AAB34936;P26436 AB451476;ABBA01031239;AK223335;AMYH02025737;AP001132;BC014588;BG720361;BI826178;CH471065;DB446200;H93373;HC006756;M82967;M82968;NM_001612;NM_020069;NM_020107;NM_020108;S65576;S65578;S65583;S65606;XM_005271610 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;XP_005271667 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 HGNC: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 - 78463187 78527049 - 78170845 78234707 - 6480464;8554872 10954726;11112418;12477932;12975357;14516277;14702039;15464426;15800013;16371355;19240061;20379614;20691247;21832049;21900206;8619474;9110174;9734811 23205 B3KNS7;B7Z2Y6;F5H4U6;H0YM34;H0YMC3;H0YMF5;H0YMH2;H0YMZ0;H0YNX0;Q96GR2 ABBA01060579;ABBA01060580;AC090260;AC090607;AF070624;AF179481;AK054882;AK294202;AK295269;AK299597;AK314508;AMYH02030859;AMYH02030860;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;hsBGM OTTHUMP00000184909;bubblegum;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 HGNC:29567 16549 614362 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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 4 4 4 q35.1 183005275 183075742 - 185676749 185747215 - 184755595 184826114 - 70279;1625737;1625735;1625742;2317576;6480464 1543733;15811777;16788709;17762044;2341402 10548543;12477932;14702039;15292367;1531127;15489334;1599407;16054041;1607358;16834775;17255364;18660489;19946888;2007410;20176858;20877624;21139048;21890473;21906983;21963094;21988832;22797925;22829935;22990118;23000965;23303383;23433401;23503661;24462768;24503477;25027693;2973813;7429333;7490105;7948012;8399326;8584017;8889548;8944226 2180 A8K9T3;B4E0R0;B7Z3Z9;D6RER0;D6RG07;E7EPM6;H0Y9U7;H0Y9Z9;P33121 ABBA01070518;ABBA01070519;ABBA01070520;AC079257;AC084871;AK096117;AK292798;AK296550;AK296826;AK303486;AMYH02010653;AMYH02010654;AMYH02010655;BC026290;BC033479;BC050073;BG680610;BG773086;BI461964;BM982557;CH471056;D10040;DC344113;DQ083028;DQ083029;HB881341;HC938750;L09229;NM_001286708;NM_001286710;NM_001286711;NM_001286712;NM_001995;XM_005262827;XM_005262828;XM_005262829;XM_005262831;XM_006714138 AAB00959;AAH26290;AAH50073;AAZ30711;AAZ30712;BAA00931;BAC04704;BAF85487;BAG64522;BAH12385;BAH12438;CBF64949;CBU89820;EAX04662;EAX04663;EAX04664;EAX04665;NP_001273637;NP_001273639;NP_001273640;NP_001273641;NP_001986;P33121;XP_005262884;XP_005262885;XP_005262886;XP_005262888;XP_006714201 Hs.406678 1656031;1772332;2116233;2161988;2216978;5015861;7185938 ACSL1_3367;Bdy94e02;D10S16;D4S3128;SHGC-50256;WI-20005 ACS1;FACL1;FACL2;LACS;LACS 1;LACS 2;LACS1;LACS2 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 HGNC:3569 01068 152425 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 X q22.3-q23 109364202 109456256 - 108884564 108976621 - 109641335 109733392 - 1580863;2317576;6480464;7240710;8554872 17762044 10669417;10874125;11731423;11889465;12477932;12525535;12824887;12949969;14741744;15108178;15146197;15161933;15292367;15489334;1567471;15849811;16276108;17934335;18029348;18059177;18614287;18781797;19056867;19322201;19346733;19617635;19765186;19946888;20351714;20452052;21085606;21139048;21242590;21384559;21832049;21890473;21903867;21906983;21963094;21988832;22053931;22114354;22505724;22797925;22808264;22939629;23000965;23443559;23503661;23874603;24155918;24163370;24201376;24576478;24816145;24879802;25015289;25027693;8944226;9480748;9598324;9598718 2182 D6RD96;D6RDA8;D6RF95;D6RFW9;H0Y9A0;O60488 AB061711;AB061713;AB061714;ABBA01043470;ABBA01043471;ABBA01043472;ABBA01043473;ABBA01043474;ABBA01043475;ABBA01043476;ABBA01043477;ABBA01043478;ABBA01043479;ABBA01043480;ABBA01043481;AF030555;AK292070;AK294915;AK307566;AL118496;AL138968;AL590647;AMYH02040225;BC034959;BQ016115;CH471120;CN310691;DR004263;NG_008053;NM_004458;NM_022977;XM_005262108;XM_005262109;XM_005262110;XM_006724635;Y12777;Y13058 AAC17493;AAH34959;ABM81761;ABM84916;BAB86900;BAB86901;BAB88649;BAF84759;BAG58000;CAA73314;CAA73501;EAX02671;EAX02672;EAX02673;EAX02674;NP_004449;NP_075266;O60488;XP_005262165;XP_005262166;XP_005262167;XP_006724698 Hs.268785 1658096;1662078;1684918;1685592;1850672;2132133;5095076 ACSL4;AFM214ZE1;DXS6987E;DXS7039E;RH11026;RH80172;STS-N30273 ACS4;FACL4;LACS 4;LACS4;MRX63;MRX68 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 HGNC:3571 02152 300157;300387 REVIEWED 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 have been observed for this gene. [provided by RefSeq, Sep 2013] 16 16 16 q24.3 74226564 74287794 + 89160217 89222171 + 89093809 89155846 + 6480464;8699517;7240710;8554872 12477932;14702039;16303743;16344560;17762044;18029348;20877624;21139048;21785126;21841779;21846720;21857022;22420028;23337955;23864651;24035498;24654937;24816145 197322 F5GX20;F5H2G6;F5H362;F5H3B2;F5H5A1;F5H755;H0YGC7;H0YGJ0;H0YH37;H3BTS0;Q4G176 ABBA01014163;ABBA01014164;AC009113;AC135782;AK075499;AK096561;AK290963;AMYH02032657;AMYH02032658;BC028399;BC064609;BC072391;BI837487;BM148793;BQ953430;BX325026;BX402632;BX404035;CH471184;CR976321;CS051329;DA062861;HI573908;HY100877;NG_031961;NM_001127214;NM_001243279;NM_001284316;NM_174917;NR_045667;NR_104293;XM_005256293;XM_006721166 AAH28399;AAH64609;AAH72391;BAC11654;BAF83652;CAI72159;CBX47443;EAW66744;NP_001120686;NP_001230208;NP_001271245;NP_777577;Q4G176;XP_005256350;XP_006721229 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 HGNC:27288 14117 614245;614265 REVIEWED 1604594 ACSF2 acyl-CoA synthetase family member 2 ENCODES a protein that exhibits ATP binding (inferred); catalytic activity (inferred); ligase activity (inferred); INVOLVED IN fatty acid metabolic process (inferred); metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; copper(2+) sulfate 17 17 17 q21.33 44964815 45013493 + 48503519 48552200 + 50426158 50474845 + 6480464;8554872 12477932;12975309;16380219;17762044;20877624;21139048;8125298;8889548 80221 B4DTB9;D6RF15;D6RF87;E7EN53;E9PF16;H0Y8N1;H0Y8Y5;Q96CM8 ABBA01041240;AC004707;AC021491;AK024573;AK225044;AK225561;AK294205;AK295258;AK300145;AK300625;AK308584;AK311109;AMYH02033591;AMYH02033592;AMYH02033593;AY358660;BC012053;BC014123;CA945050;CH471109;DC296100;DC384989;NM_001288968;NM_001288969;NM_001288970;NM_001288971;NM_001288972;NM_025149;NR_110232;XM_006722110;XR_429924 AAH12053;AAH14123;AAQ89023;BAB14930;BAG57517;BAG58247;BAG61931;BAG62317;EAW94612;NP_001275897;NP_001275898;NP_001275899;NP_001275900;NP_001275901;NP_079425;Q96CM8;XP_006722173 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 HGNC:26101 13380 610465 VALIDATED 1604279 ACSBG2 acyl-CoA synthetase bubblegum family member 2 ENCODES a protein that exhibits acyl-CoA hydrolase activity; long-chain fatty acid-CoA ligase activity; INVOLVED IN fatty acid metabolic process; long-chain fatty acid metabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; mitochondrion; INTERACTS WITH 3,3',4,4',5-pentachlorobiphenyl; 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane (ortholog); 17alpha-ethynylestradiol (ortholog) 19 19 19 p13.3 6074482 6131888 + 6135654 6193113 + 6135633 6193103 + 6480464;8554872 11230166;12477932;12975309;14702039;15685348;16371355;16762313;18029348;21145461;8125298 81616 B4DYU1;K7EKE4;K7EL11;K7EMB4;K7ERT0;K7ESC8;K7ESF1;Q5FVE4 ABBA01055978;ABBA01055979;ABBA01055980;ABBA01055981;AC011471;AC104538;AJ577571;AK057412;AK093433;AK225862;AK302604;AL040604;AL136854;AMYH02035346;AMYH02035347;AMYH02035348;AY009107;AY358766;BC022027;BC090046;BI561348;CH471139;DB514968;DC399703;HC006758;HY011431;KF456482;KF456484;NM_001289177;NM_001289178;NM_001289179;NM_001289180;NM_030924;XM_005259653;XM_006722915 AAG49398;AAH22027;AAH90046;AAQ89126;ABM81759;ABM84914;ACE86522;ACE87201;BAB71476;BAG52714;BAG63853;CAB66788;CAE12156;CAE12157;CBH19185;EAW69111;NP_001276106;NP_001276107;NP_001276108;NP_001276109;NP_112186;Q5FVE4;XP_005259710;XP_006722978 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 HGNC:24174 09824 614363 VALIDATED 1315639 ACSM1 acyl-CoA synthetase medium-chain family member 1 ENCODES a protein that exhibits acyl-CoA ligase activity; butyrate-CoA ligase activity; INVOLVED IN fatty acid biosynthetic process (inferred); metabolic process (inferred); small molecule metabolic process (inferred); PARTICIPATES IN butanoate metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN blood microparticle; extracellular vesicular exosome; mitochondrial matrix; INTERACTS WITH 1,2-dibromoethane (ortholog); 1-benzofuran (ortholog); 17alpha-ethynylestradiol (ortholog) 16 16 16 p12.3 19944784 20012792 - 20634555 20709066 - 20623233 20697744 - 1580863;6480464;6907045;8554872 11470804;12477932;12654705;14702039;15361761;18347602;18632593;19056867;19913121;20185149;20628086;20679960;20877624 116285 E5RFK0;H0YAU5;O75203;Q08AH1 AB059429;AB062503;ABBA01028285;AC003034;AC020926;AC141273;AK092574;AK314282;AMYH02031665;AMYH02031666;BC125177;BC125178;CH471228;NM_052956;XM_005255084;XM_005255086;XM_006721016;XM_006721017;XM_006721018;XR_243258;XR_429672 AAC23498;AAI25178;AAI25179;BAB64535;BAB68363;BAG36941;EAW66826;EAW66827;EAW66828;NP_443188;Q08AH1;XP_005255141;XP_005255143;XP_006721079;XP_006721080;XP_006721081 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;butyryl-coenzyme A synthetase 1;lipoate-activating enzyme;medium-chain acyl-CoA synthetase;middle-chain acyl-CoA synthetase 1 protein-coding ENSG00000166743 HGNC:18049 12551 614357 VALIDATED 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 2 q34-q35 217493969 217573566 + 223725732 223808119 + 222861014 222943401 + 2317576;6480464;8554872 17762044 11707336;12477932;1433226;14702039;14741744;15292367;15302935;15489334;15556626;16354793;17220478;17379924;17761945;17901542;18003621;1848073;19221603;19765186;19946888;20219900;20308079;20605918;21139048;21252943;21328461;21832049;21890473;21903422;21906983;21963094;21987572;22190034;22357706;22505724;22586326;22797925;22939629;23000965;23125841;23602568;23762027;23840832;24255178;24816145;25027693;6240978;7987323;8663269;8889548;8944226;9177793 2181 B3KMA6;C9JC11;F5GWH2;F5H062;H7BYZ7;H7C260;O95573 AB061436;AB061712;ABBA01023805;ABBA01023806;ABBA01023807;ABBA01023808;AC013476;AC016712;AF116690;AI378485;AK001471;AK023191;AK314621;AMYH02005868;AMYH02005869;AMYH02005870;AMYH02005871;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;LACS 3;PRO2194 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 HGNC:3570 03845 602371 REVIEWED 1642901 ACSM4 acyl-CoA synthetase medium-chain family member 4 ENCODES a protein that exhibits ATP binding (inferred); butyrate-CoA ligase activity (inferred); fatty-acyl-CoA synthase activity (inferred); INVOLVED IN acyl-CoA metabolic process (inferred); fatty acid metabolic process (inferred); PARTICIPATES IN butanoate metabolic pathway; fatty acid beta degradation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH (+)-catechin; 1,2-dibromoethane (ortholog); 1-benzofuran (ortholog) 12 12 12 p13.31 9032423 9056412 + 7456928 7480969 + 7304332 7328373 + 2317576;6907045;6480464;8554872 17762044 20877624;23982661 341392 P0C7M7 ABBA01012199;AC131205;AMYH02025964;NM_001080454 NP_001073923;P0C7M7 Hs.450804 OTTHUMP00000207043;acyl-coenzyme A synthetase ACSM4, mitochondrial protein-coding ENSG00000215009 HGNC:32016 614360 PROVISIONAL 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 10 q25.1-q25.2 107861444 107915662 + 114133916 114188138 + 112374158 112428380 + 2317576;6480464;8554872 17762044 11127823;11319232;11707336;12147264;12477932;12975309;14608540;15164054;15292367;15489334;15736044;15809837;16198472;16385451;17495181;17681178;17761945;18228202;18806831;19218499;19946888;20379614;20470896;20877624;21890473;21906983;22163040;22171129;23348389;24222123;8125298;8944226 51703 B4DX30;Q9ULC5 AB033899;AB033920;ABBA01063005;AJ347687;AJ496489;AK000339;AK024932;AK222782;AK223288;AK301786;AK310436;AL157786;AL708480;AM262166;AMYH02023816;AMYH02023817;AMYH02023818;AMYH02023819;AMYH02023820;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;LACS 5 FACL5 for fatty acid coenzyme A ligase 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 HGNC:16526 16139 605677 REVIEWED 1606171 ACSM2A acyl-CoA synthetase medium-chain family member 2A ENCODES a protein that exhibits butyrate-CoA ligase activity; INVOLVED IN medium-chain fatty-acyl-CoA metabolic process; PARTICIPATES IN butanoate metabolic pathway; fatty acid beta degradation pathway; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 16 16 16 p12.3 19790180 19797288 - 20462846 20498991 + 20451537 20487669 + 2317576;6480464;6907045;8554872 17762044 10493829;12477932;14702039;16344560;16521160;19345228;19634011;20877624 123876 B3KP75;E7EPS5;F5GWL3;I3L2Y5;I3L339;I3L438;Q08AH3 ABBA01028283;AC003034;AC137056;AI340924;AK055867;AK091878;AK091978;AK096039;AK096132;AK298359;AK298434;AK303774;AMYH02031662;AMYH02031663;BC125175;BC125176;DA034571;DC362857;NM_001010845;XM_005255093;XR_243259 AAC23497;AAI25177;BAC03784;BAG51587;BAG53201;BAG60655;BAH12766;BAH14046;NP_001010845;Q08AH3;XP_005255150 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-CoA synthetase medium-chain family member 2;acyl-coenzyme A synthetase ACSM2A, mitochondrial;butyrate--CoA ligase 2A;butyryl-coenzyme A synthetase 2A;middle-chain acyl-CoA synthetase 2A protein-coding ENSG00000183747 HGNC:32017 17292 614358 VALIDATED 9586501 ACSM5P1 acyl-CoA synthetase medium-chain family member 5 pseudogene 1 16 16 20599286 20618429 - 20587964 20607107 - 100421779 ABBA01028285;AC141273;AMYH02031665;NG_026352 pseudo HGNC:51295 INFERRED 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 5 q31.1 127419235 127477416 - 131285666 131347761 - 131949973 132012068 - 1599805;1599808;1580863;2315920;2317576;6480464;8554872 10502316;14622223;16428347;17762044 10048485;10548543;12477932;12767919;14702039;15292367;16344560;16572202;16806233;16827919;16834775;17030554;17567994;18555221;18718982;18804346;19064571;19460752;20379614;20429931;22205969;22412388;23128233;8944226 23305 B2RB13;B4DFW3;C9J3Z0;C9J4I1;C9J8C7;C9JK59;C9JPA5;C9JT10;E7ERD7;Q9UKU0 AB020644;ABBA01068815;AC034228;AF099740;AF102845;AF129166;AK122702;AK294291;AK314452;AL390168;AMYH02012208;AMYH02012209;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;XM_006714579;XM_006714580;XM_006714581 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;XP_006714642;XP_006714643;XP_006714644 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 HGNC:16496 09190 604443 REVIEWED 1604166 ACSM2B acyl-CoA synthetase medium-chain family member 2B ENCODES a protein that exhibits ATP binding (inferred); butyrate-CoA ligase activity (inferred); catalytic activity (inferred); INVOLVED IN fatty acid metabolic process (inferred); metabolic process (inferred); small molecule metabolic process (inferred); PARTICIPATES IN butanoate metabolic pathway; fatty acid beta degradation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrial matrix (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 16 16 16 p12.3 19857086 19875825 - 20548080 20587695 - 20536758 20576373 - 2317576;6480464;6907045;8554872 17762044 10434065;11415461;12616642;15122652;15221005;16521160;19634011;20679960;8884467;8934636 348158 H3BM61;H3BNJ9;H3BP39;H3BP79;H3BQ84;H3BRR3;H3BTX9;Q68CK6 AB073604;ABBA01028283;ABBA01028284;AC141053;AC141273;AK129944;AK289416;AK309601;AMYH02031665;AY160217;BC026010;DC329427;DC362610;DC362960;DC362964;DC412825;NM_001105069;NM_182617;XM_005255304 AAI72335;AAO17576;BAD38642;BAF82105;NP_001098539;NP_872423;Q68CK6;XP_005255361 Hs.298252;Hs.567879 1653796;1686736;1761895 RH70323;RH93768;SHGC-145832 ACSM2;HXMA;HYST1046 OTTHUMP00000162293;acyl-CoA synthetase medium-chain family member 2;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 HGNC:30931 17124 614359 VALIDATED 1603027 ACSM5 acyl-CoA synthetase medium-chain family member 5 ENCODES a protein that exhibits ATP binding (inferred); butyrate-CoA ligase activity (inferred); catalytic activity (inferred); INVOLVED IN fatty acid metabolic process (inferred); metabolic process (inferred); PARTICIPATES IN butanoate metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 16 16 16 p12.3 19570305 19620803 + 20420850 20452290 + 20409529 20440968 + 6480464;6907045;8554872 11752456;12477932;17762044;20383146;20877624;21988832 54988 I3L536;Q6NUN0 ABBA01028280;ABBA01028281;AC137056;AK000588;AMYH02031661;AMYH02031662;AV648626;AV653851;AV696798;BC013753;BC016703;BC068516;BX505437;CH471186;NM_017888;XM_006721055;XM_006721056 AAH13753;AAH16703;AAH68516;BAA91273;EAW50317;EAW50318;EAW50319;NP_060358;Q6NUN0;XP_006721118;XP_006721119 Hs.659606 1847885;2153716 SHGC-56399;SHGC-6042 FLJ20581 OTTHUMP00000162289;acyl-coenzyme A synthetase ACSM5, mitochondrial protein-coding ENSG00000183549 HGNC:26060 08627 614361 VALIDATED 735798 ACSM3 acyl-CoA synthetase medium-chain family member 3 ENCODES a protein that exhibits ATP binding (inferred); butyrate-CoA ligase activity (inferred); catalytic activity (inferred); INVOLVED IN fatty acid biosynthetic process (inferred); metabolic process (inferred); PARTICIPATES IN butanoate metabolic pathway; fatty acid beta degradation pathway; ASSOCIATED WITH Colitis, Ulcerative; Glomerulonephritis, IGA; Hypertension; FOUND IN mitochondrial matrix (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 16 16 16 p13.11 20085531 20118378 + 20775312 20808479 + 20763990 20797157 + 1579978;1601004;634023;2317576;6480464;6907045;7241281;7241282;7241283;8554872 11592044;12484505;14567496;17102796;17762044;21987487;8507454 10493829;11158418;11470804;11772874;12046348;12477932;15361761;16341674;17070428;17278971;18192838;18519841;18660489;19108963;19262474;19578796;19913121;20084102;20379614;20628086;20679960;20877624;7843754;7907320;8125298;8135833 6296 H3BR33;H3BSM0;H3BT38;H3BTG0;H3BUF2;H3BV29;H3BVD5;Q53FZ2 ABBA01028286;AC004381;AK223139;AK290322;AK296122;AMYH02031666;BC002790;BI770558;BI826935;BM828310;BU170035;CA425752;CH471228;D16350;KC877592;NM_005622;NM_202000;X80062;XM_005255466 AAC31667;AAH02790;ABM83905;ABM87226;ABW03856;BAA03853;BAD96859;BAF83011;BAG58869;CAA56369;EAW66834;EAW66835;NP_005613;NP_973729;Q53FZ2;XP_005255523 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 HGNC:10522 07033 145505 VALIDATED 1344514 ACSM6 acyl-CoA synthetase medium-chain family member 6 ENCODES a protein that exhibits ATP binding (inferred); butyrate-CoA ligase activity (inferred); catalytic activity (inferred); INVOLVED IN fatty acid metabolic process (inferred); metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 1,2-dibromoethane (ortholog); 1-benzofuran (ortholog); 17alpha-ethynylestradiol (ortholog) 10 10 10 q23.33 90695101 90729842 + 96953957 96988686 + 95194200 95228929 + 6480464;8554872 12477932;16385451;23884467 142827 H7BXS6;H7BYZ2;Q6P461 ABBA01021840;AK126134;AL157834;AMYH02023579;BC063654;BC104210;BC104211;BC112988;BC148184;CH471066;NM_207321 AAH63654;AAI04211;AAI04212;AAI12989;BAC86458;EAW50014;NP_997204;Q6P461 Hs.134229 1721313;1747837;5094310 G54703;G59656;G65756 C10orf129;bA310E22.3 AMP-binding enzyme;OTTHUMP00000020136;acyl-coenzyme A synthetase ACSM6, mitochondrial APPROVED protein-coding ENSG00000173124 HGNC:31665 12565 VALIDATED 1603012 ACSS3 acyl-CoA synthetase short-chain family member 3 ENCODES a protein that exhibits acetate-CoA ligase activity (inferred); ATP binding (inferred); catalytic activity (inferred); INVOLVED IN metabolic process (inferred); PARTICIPATES IN propanoate metabolic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH arsenite(3-); calcitriol; copper(2+) sulfate 12 12 12 q21.31 81138032 81316367 + 81471797 81650538 + 81022383 81256759 + 6480464;6907045;8554872 12477932;17762044;20379614;21988832;23726668 79611 F8VZB4;H0YII9;Q9H6R3 ABBA01053486;ABBA01053487;ABBA01053488;ABBA01053489;AC078920;AC078955;AC134506;AK025616;AK074267;AK074938;AMYH02026831;AMYH02026832;AMYH02026833;AMYH02026834;AMYH02026835;AX764480;AX764482;BC009317;BC015769;CH471054;HC890635;HC895167;NM_024560;XM_005269150;XM_005269151;XM_006719601 AAH09317;AAH15769;BAB15190;BAC11304;CAE00104;CAE00105;CBN59805;CBN62022;EAW97372;EAW97373;NP_078836;Q9H6R3;XP_005269207;XP_005269208;XP_006719664 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 HGNC:24723 13385 614356 VALIDATED 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 - 24986866 25038818 - 25005147 25058182 - 1580863;2317576;6480464;6907045;8554872 17762044 11150295;11214971;11347906;11780052;12477932;14702039;15489334;16788062;19535340;19617323;19724895;19851296;20125193;20198315;20379614;20877624 84532 Q1RMZ4;Q5TF43;Q6ZV30;Q9NUB1 AB058749;ABBA01048732;AK024396;AK024424;AK027817;AK090851;AK092295;AK094414;AK125058;AK125923;AK127566;AK296306;AK314440;AL035661;AL080312;AL832939;AL833041;AMYH02036843;AW024920;BC032076;BC039261;BC044588;BC055008;BC114612;BM150326;CH471133;DC404033;NM_001252675;NM_001252676;NM_001252677;NM_032501;XM_006723657;XM_006723658;XM_006723659 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;XP_006723720;XP_006723721;XP_006723722 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 HGNC:16091 12413 614355 REVIEWED 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 + 33462766 33515769 + 34874963 34927966 + 1580863;2317576;6480464;6907045 17762044 10843999;11780052;12477932;14702039;15231747;15489334;16344560;16788062;18029348;18660489;19617323;19913121;20353815;20416077;20628086;21890473;21906983;25108527 55902 B3KUV2;B4DEH9;C9IYL0;C9J7L5;C9JXD9;C9JY31;F8WBQ7;F8WC73;F8WCJ4;F8WDJ9;Q4G0E8;Q6DKJ3;Q96FY7;Q9NR19 ABBA01019175;AF263614;AI674262;AK000162;AK000188;AK022608;AK025990;AK092281;AK098026;AK293634;AL049709;AL133324;AL359946;AMYH02036985;AMYH02036986;BC010141;BC012172;BC073846;BC098422;CH471077;CR749716;DA411343;DA626707;DA628275;DA630609;NG_011520;NM_001076552;NM_001242393;NM_018677;XM_005260455;XM_005260456;XM_006723825;XM_006723826 AAF75064;AAH10141;AAH12172;AAH73846;AAH98422;BAB14127;BAC03849;BAG53564;BAG57090;CAH18485;EAW76242;EAW76243;EAW76244;EAW76245;EAW76246;EAW76247;EAW76248;NP_001070020;NP_001229322;NP_061147;Q9NR19;XP_005260512;XP_005260513;XP_006723888;XP_006723889 Hs.517034 1340980;2128026;2218174;7185359 ACAS2__4238;D20S106;D20S532E ACAS2;ACS;ACSA;DKFZp762G026;dJ1161H23.1 ACECS;OTTHUMP00000030713;OTTHUMP00000030717;acetate thiokinase;acetate--CoA ligase;acetate-CoA ligase;acetyl-Coenzyme A synthetase 2 (ADP forming);acetyl-coenzyme A synthetase, cytoplasmic;acyl-activating enzyme;cytoplasmic acetyl-coenzyme A synthetase APPROVED protein-coding ENSG00000131069 HGNC:15814 605832 REVIEWED 8694255 ACTA2-AS1 ACTA2 antisense RNA 1 10 10 10 q23.31 84439439 84441529 + 90692418 90695012 + 88932747 88934927 + 14702039;24721325 100132116 ABBA01021951;AK093340;AL157394;AMYH02023506;AX748062;HG503125;NR_125373;XR_110433;XR_111103;XR_171864 Hs.713690 1742207;1778885;2154281 D10S2177;GDB:193816;RH44176 ZXF1;uc001kfo.1 ncrna HGNC:45169 VALIDATED 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 1 q42.13 202835304 202838155 - 229566992 229569858 - 229431245 229434096 - 1298659;1598720;1300347;1300247;1559154;6480464;7240710;8554872;8699517 10072583;12921789;16452123;704397;734918 10049817;10074138;10224093;10320340;10366597;10438535;10491393;10508519;10556093;10559237;10564664;10575001;10581178;10583954;10601340;10628374;10666339;1074709;10793131;10806479;10882740;10958653;10984435;11018051;11027608;11053353;11071908;11090452;11102443;11106625;11166164;11171322;11259305;11297527;11309382;11333380;11415434;11429692;11438522;11441066;11461920;11468283;11481347;11524436;11536049;11580270;11583571;11687588;11691822;11701614;11702052;11707283;11709093;11795944;11812134;11821948;11839310;11850458;11877456;11889126;11897493;11950878;11969288;12006649;12009869;12033495;12044158;12048248;12062430;12119014;12127568;12163017;12210873;12383268;12384700;12388543;12417592;12417594;12438125;12438242;12466270;12475945;12477932;12480535;12534372;12554937;12571245;12665555;12695497;12714565;12721663;12849983;12857853;1383230;1423520;14506234;14507647;14532270;14576350;14592989;14594945;14634002;14640694;14668487;14676314;14684598;14688263;14690596;14694110;14702039;14966270;15059972;15072110;15107502;15149849;15152255;15198992;15236405;15336687;1540415;1544421;15454575;15468086;15489334;15494313;15507486;15520409;15558034;15679046;15772115;16009940;16051665;16427282;16461343;16501887;16526095;16568092;16751776;16916647;16945536;17010111;17082770;17194691;17194709;17203973;17266347;17360745;17361185;17387733;17411366;17504171;17573780;17620599;18063690;1808202;18157088;18443296;18461503;18662664;18775311;18781797;18976909;19002257;1907279;19150851;19199708;19233165;19380743;19383239;19389844;19454010;19553474;19562689;19634497;19635823;19639585;19710135;19819966;19883584;1991513;19934221;19948975;20100475;20147394;20169155;20179953;20201926;20301436;20301465;20305087;20332100;20378355;20388088;20391533;20452215;20630939;20639865;20686692;20716950;20718862;20809254;20826790;20972266;21079800;21080425;21108927;21139048;21145461;21151833;21199870;21203488;21319273;21340023;21385873;21464227;21514153;21606541;2161834;21691712;21723825;21764995;21824169;21890473;21906983;21912905;21917091;21923909;21931536;21963094;21975552;21987572;21994733;21994736;22004035;22017400;22028271;22031939;22053931;22081313;22209233;22362758;22465675;22505724;22535526;22537596;22640593;22721673;22863883;22989508;23000965;23017337;23042265;23071112;23071671;23174700;23176180;23178941;23190606;23229356;23246001;23247112;23260110;23294842;23376163;23420843;23443559;23575248;23656990;23811015;23831272;23875777;2395459;24106267;24255178;24292274;24313005;2455687;24576301;24816145;25015289;25027693;2907503;2936753;3793760;3842206;6190133;648524;6865942;6893424;7503723;7642559;7680654;7703225;7780165;7816144;7820861;7908020;7908614;8258301;8395021;8399167;8413665;8416954;8422497;8567732;8612804;8661406;8892894;8997639;8999969;9153421;9199170;9214391;9251807;9298982;9417078;9490638;9512503;9645951;9668039;9695962;9724539;9792688;9832551;9841925;9852149;9971772 58 A6NL76;P68133;Q5T8M7;Q5T8M8 ABBA01009822;AF182035;AK096902;AK300697;AL160004;AL598491;AMYH02002868;AMYH02002869;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 HGNC:129 00030 102610;161800;255310 REVIEWED 1603843 ACTBL2 actin, beta-like 2 ENCODES a protein that exhibits ATP binding (inferred); FOUND IN extracellular space; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; genistein; (+)-catechin (ortholog) 5 5 5 q11.2 53730699 53733492 - 56775843 56778636 - 57480016 57482809 - 6480464 12477932;16824795;17203973;19056867;19156129;19471022;20086096;20473970;20639865;20876399;20972266;21110914;21139048;21145461;21693764;21890473;21906983;21963094;21987572;22053931;22178446;22219177;22266860;22505724;22562506;22810585;22863883;23862649;23874603;24124408;24244333;24332808;24816145 345651 Q562R1 ABBA01015777;AC025470;AMYH02011342;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 HGNC:17780 18598 614835 VALIDATED 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 7 p22 5526560 5530009 - 5566779 5570232 - 5527148 5530601 - 1298665;1300347;5147998;6480464;6907045;7240710;8547669;8554872;9587751;8699517;9587759;9495920;9495926 11226670;1505215;20624897;21358755;21502417;22563491;23237195;734918 10049817;10074138;10078207;10381382;10403844;10411937;10470015;10470109;10547355;10556093;10600384;10601251;10604479;10677499;10683146;10748209;10773068;10787407;10792467;10833443;10851017;10866806;10945978;10966108;11027608;11029056;11078522;11238447;11257002;11326315;11350761;11357136;11373276;11415434;11461920;11487543;11532003;11533442;11535601;11563969;11579089;11580269;11583571;11673475;11691822;11696420;11707406;11709093;11721045;11787062;11790298;11812134;11832213;11839798;11846445;11854414;11937625;11940582;11950601;11950878;11955010;11964161;11983702;12009869;12029088;12062430;12080081;12082080;12202484;12388067;12435603;12456645;12470643;12477932;12522145;12547197;12591166;12639940;12665555;12665801;12670476;12673016;12679033;12704194;12853948;12857853;12963728;14592989;14597672;14623863;14634002;14694110;14702039;14729568;14760703;14966270;15009096;15009185;15047060;15101111;15107502;15111311;15121898;15135048;15140972;15175327;15208678;15231747;15231748;15328537;15361876;15371598;1540415;15489334;15502823;15527767;15555571;15556561;1555776;15558034;15574586;15592455;15673434;15710247;15711563;15746964;15834686;15862967;15897890;15940343;15952740;16021519;16091223;16101678;16130169;16146415;16148048;16179592;16186248;16189514;16196087;16210567;16217013;16226712;16289162;1629950;16364312;16375898;16502470;16526095;16536728;16549430;1662743;16685646;16687403;16762366;16824795;16944923;17181997;17203973;17289661;1734024;17342765;17353003;17360745;17361185;17373842;17411366;17502619;17504171;17548472;17573780;17599063;17620012;17620599;17643375;17651734;17676665;17683050;17868192;17939680;17955473;18000879;18160415;18261463;18331289;18364388;18443296;18457437;18478542;18533937;18654668;18680169;18775311;18781797;18809673;19041431;1907279;19167051;19309309;19322201;19338310;19380743;19451231;19475567;19477923;19538885;19638415;19639585;19710135;19725029;19738201;19802004;19805454;19883584;1991513;19928837;19946888;20081228;20147394;20197409;20201613;20308691;20381070;20391533;20473970;20618440;20639865;20804785;20856200;20876399;20946988;20972266;21044950;21045147;21110914;21139048;21145461;21163940;21172822;21182203;21182205;21203488;21221983;21300803;21319273;21455487;21555369;2155660;21565611;21575865;21668410;21670154;21726808;21734401;21800051;21890413;21890473;21900206;21906983;21917091;21923909;21942715;21963094;21987572;21988832;22004035;22053931;22079093;22178446;22234250;22272336;22285204;22323290;22323606;22366783;22465675;22505724;22535526;22536838;22573825;22623428;22623727;22640593;22721673;22751105;22797925;22855531;22939629;22944692;22961449;22989508;23017337;23071112;23077236;23084401;23091630;23125841;23184937;23221571;23246001;23260110;23266771;23294842;23326330;23383273;23395798;23398456;23428871;23443559;23447706;23463506;23466368;23482560;23535377;23575248;23811015;23825951;23862649;23874603;23875777;24040060;24068947;24129186;24225952;24244333;24250222;24332808;24337577;24415753;24583282;24591637;24639526;24657165;24768539;24789788;24789789;24816145;24826067;25015289;25027693;274701;2837653;2994062;3335520;3842206;435297;6202424;6304075;6322116;6686106;6842590;6865942;7103951;7535922;7820861;7821789;7876306;7876308;7929073;8050815;8125298;8228254;8319567;8341682;8547189;8605189;8619402;8639502;8661406;8761950;8780737;8892894;8913639;8941379;8997639;9013719;9108196;9150887;9209005;9245787;9252372;9268132;9288906;9295142;9359436;9463375;9487115;9525888;9563518;9676236;9686908;9739080;9813091;9841925;9845365;9847074;9848085;9848710;9971772 60 B3KWQ3;C9JTX5;C9JUM1;C9JZR7;E7EVS6;G5E9R0;P60709;Q1KLZ0 ABBA01039461;AC006483;AK025375;AK058019;AK098751;AK130062;AK130157;AK222925;AK223032;AK223055;AK225414;AK301372;AK304552;AK308277;AK309997;AK316361;AMYH02015141;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;XM_006715764 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;XP_006715827 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 HGNC:132 00032 102630;243310;607371 REVIEWED 2293113 ACTBP11 actin, beta pseudogene 11 1 1 1 q41 197207139 197208548 - 224051028 224052637 - 223863326 223864935 - 644220 ABBA01008153;AC096542;AMYH02002766;NG_007577 1793664;1794978;1794984 PMC24644P5;PMC86650P1;PMC86716P1 pseudo HGNC:33971 INFERRED 7240981 ACTBP14 actin, beta pseudogene 14 10 10 10 q22.1 64058403 64059491 + 70782534 70783622 + 69022778 69023866 + 389976 ABBA01019597;AL359844;AMYH02023268;NG_022182 pseudo HGNC:45086 INFERRED 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 10 q23.3 84441676 84497934 - 90694831 90751147 - 88935074 88991390 - 1298662;6480464;6484113;7240710;8554872;8699517 2398629 10049817;10074138;10341211;10556093;10628374;11037796;11580270;11707283;11709093;11812134;12009869;12119014;12355421;12477932;12777385;14530271;14627618;14694110;15032605;15164054;15342556;1540415;15489334;15555551;1555776;15588509;15618548;15703204;15862967;16051665;16115228;16289162;16385451;16526095;16548883;16573163;17360745;17411366;17464107;17504171;17626241;17786474;17994018;18443296;18468998;18775311;18781797;1907279;19261809;19285011;1939373;19409525;19531499;19639585;19639654;19654303;19683985;1969628;19745835;19788615;19883584;19913121;1991513;20128380;20132408;20147394;2022339;20237496;20301299;20381122;20618440;20628086;20628268;20639865;20689142;20694011;20734336;20876399;20970362;20972266;21131735;21139048;21145461;21212136;21233699;21248741;21288906;21343850;21477997;21496259;21530503;21553326;21612641;21617610;21815248;21890473;21906983;21917091;21923909;21937134;21937873;21963094;21987572;21996542;22001912;22004035;22053931;22133903;22138123;22232431;22395512;22460095;22465675;22479424;22505724;22535526;22543453;22619371;22640593;22721673;22790431;22810585;22831780;22939629;22946110;2295650;22960022;22989508;23000965;23017337;23020218;23068445;23071112;23116162;23178941;23182716;23246001;23260110;23294842;23443559;23575248;23770605;23788249;23794425;23811015;23874603;23875777;23879759;23973329;23982059;23995859;24024919;24244333;24292274;24322015;24332808;24446247;24816145;25027693;2612915;2701935;3842206;6330528;6725286;7780165;8138584;8661406;8892894;8997639;9512352;9546431;9841925;9971772 59 D2JYH4;F6QUT6;F6UVQ4;P62736 ABBA01021950;ABBA01021951;AK300664;AK313294;AL157394;AMYH02023506;AMYH02023507;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;MYMY5 ACTSA;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 HGNC:130 00031 102620;611788;613834;614042 REVIEWED 1353115 ACTBP10 actin, beta pseudogene 10 14 14 q11.2 19987119 19988846 - 18998860 19000587 + 446207 AL589182;AMYH02028798;NG_032756 pseudo HGNC:31819 INFERRED 1344030 ACTBP2 actin, beta pseudogene 2 5 5 5 q14.1 72974637 72976430 + 77080627 77082421 + 77784803 77786597 + 23650840;3837182;6571702 62 ABBA01061984;AC035147;AMYH02011622;NG_003019 1728921;1793046;1793732;1794552;1794984;2190487 ACTB-L;Actb-rs1;PMC193670P1;PMC26753P1;PMC317352P1;PMC86716P1 pseudo HGNC:135 INFERRED 1347270 ACTBP12 actin, beta pseudogene 12 1 1 1 p21 90940994 90941434 - 92694573 92695013 - 92229016 92229456 - 1692956 100462767 ABBA01045550;AL451010;AMYH02001480;NG_026958 ACTGP5 APPROVED pseudo HGNC:150 INFERRED 1349890 ACTBP1 actin, beta pseudogene 1 X X X p11.3 50339355 50340469 - 46147449 46148563 - 46288014 46289128 - 3837182 61;643309 ABBA01052189;AL034402;AMYH02039256;NG_022596 pseudo HGNC:134 INFERRED 7176820 ACTBP13 actin, beta pseudogene 13 3 3 3 p21.31 49876588 49880549 - 49910778 49914739 - 49873345 49877306 - 389120 ABBA01024571;AC105935;AMYH02006760;NG_028183 pseudo HGNC:44626 INFERRED 1348315 ACTBP5 actin, beta pseudogene 5 65 HGNC:138 1353051 ACTBP3 actin, beta pseudogene 3 18 18 q21.33 57360278 57360705 - 59693046 59693473 - 3837182 63 ABBA01056169;AC010776;AMYH02034833;NG_032175 pseudo HGNC:136 INFERRED 1345201 ACTBP6 actin, beta pseudogene 6 8 8 8 q21.2 81865138 81866904 + 85860744 85862510 + 84948509 84950275 + 66 ABBA01004019;AC091175;AMYH02018344;M55014;NG_008793 H8-PSI-BETA-AC3 pseudo HGNC:139 INFERRED 1350369 ACTBP4 actin, beta pseudogene 4 5 5 5 q31.1 127124422 127126184 - 130994133 130995892 - 131658440 131660199 - 3837182 64 ABBA01068821;AC008695;AMYH02012203;AMYH02012204;NG_003020 pseudo HGNC:137 INFERRED 1348995 ACTBP8 actin, beta pseudogene 8 6 6 6 q15 89403116 89404729 - 88985024 88986792 - 88275305 88277073 - 1298666 6296793 1561114;20339536;6571702;9345905 68 ABBA01040517;AL139042;AMYH02014067;NG_000840;V00481 1741823;1741853 GDB:185264;GDB:185752 ACTBP2 pseudo HGNC:141 INFERRED 1351732 ACTBP7 actin, beta pseudogene 7 15 15 15 q15.3 21170156 21171943 - 44280676 44282463 - 43988478 43990265 - 1298666 6296793 6571702 67 ABBA01039218;AC090516;AMYH02030328;NG_002724;V00479 pseudo HGNC:140 INFERRED 1346494 ACTBP9 actin, beta pseudogene 9 18 18 18 q21.33 56828402 56830193 + 60109157 60110948 + 62441924 62443715 + 1298670 8941379 69 ABBA01056193;AC100843;AMYH02034868;D50604;NG_003162 pseudo HGNC:142 INFERRED 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 15 q14 11839644 11847274 - 35080297 35087927 - 34788096 34795726 - 1298672;1559158;1598724;1598727;1598729;1300348;1300248;6480464;6907045;7240710;8554872;8699517 11680626;14654066;16343576;1639426;704424;734919;9563954 10049817;10074138;10330430;10397770;10494087;10528865;10556093;10847344;10966831;11709093;11936879;11968018;11983702;11997265;12009869;12011427;12019562;12029088;12042308;12063253;12087068;12110694;12118075;12134071;12136158;12139639;12207032;12270929;12271120;12358155;12408964;12417592;12438125;12445881;12452439;1246600;12477932;12554937;12721663;12771190;12898519;14507647;14694110;14702039;14760703;14988412;15337165;1540415;15489334;15576338;1602151;16169070;16196087;16199542;16288873;16526095;16611632;16754800;16967490;17360745;17411366;17504171;17606992;17611253;17620599;1762945;17765196;17947298;18403758;18443296;18477565;18506004;18513529;18515362;18775311;18781797;18952430;1907279;19293840;19639585;19799913;19805454;19853701;19875404;19883584;19913121;1991513;19946888;20031618;20086309;20147394;20301486;20301725;20308691;20359594;20391533;20474083;20508642;20628086;20639865;20835239;20962418;20972266;21110914;21139048;21150319;21182205;21622575;21778192;21800051;21890473;21900206;21906983;21917091;21923909;21963094;21987572;21988832;22004035;22053931;22082156;22219177;22266860;22465675;22505724;22535526;22573825;22623428;22640593;22643837;22939629;22980331;22989508;23000965;23017337;23071112;23084401;23246001;23260110;23294842;23398456;23575248;23788249;23811015;23875777;24144296;24461919;24736382;24816145;25027693;3789022;6272269;6273789;6310553;6584914;6689196;7780165;8127865;8163527;8661406;8892894;8913639;8997639;9841925;9848085;9971772 70 B3KPP5;P68032 ABBA01038521;AC087457;AI222203;AK056592;AK129892;AK129902;AK290616;AMYH02030179;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 HGNC:143 00015 102540;612098;612794;613424 REVIEWED 7174869 ACTG1P12 actin, gamma 1 pseudogene 12 3 3 3 12048868 12050003 + 12111725 12112860 + 12070225 12071360 + 100418921 ABBA01025208;AC026166;AMYH02006284;NG_025675 pseudo HGNC:44496 INFERRED 7257631 ACTG1P13 actin, gamma 1 pseudogene 13 3 3 3 97322549 97323356 - 98934070 98934877 - 99215226 99216033 - 100418920 ABBA01061808;AC092181;AMYH02007294;NG_025603 pseudo HGNC:49058 INFERRED 3207729 ACTG1P11 actin, gamma 1 pseudogene 11 Y Y Y q11.221 5217516 5225609 - 20309696 20311604 + 18147810 18149718 + 9847074 414754 AC024183;NG_004636 2188611 G66357 pseudo HGNC:37651 VALIDATED 1345992 ACTG1P1 actin, gamma 1 pseudogene 1 3 3 3 q23 137635491 137637432 + 139212582 139214524 + 139493740 139495682 + 8941379 73 ABBA01059063;AC097103;AMYH02007791;D50658;M55082;NG_001068 ACT1GP1;ACTGP1;HY-psi-gamma-AC6 APPROVED pseudo HGNC:146 INFERRED 8548091 ACTG1P14 actin, gamma 1 pseudogene 14 9 9 9 6765258 6766370 + 6834462 6835574 + 6834462 6835574 + 100418910 ABBA01065379;AL354707;AMYH02019104;NG_023870 pseudo HGNC:49751 INFERRED 1349704 ACTG1P10 actin, gamma 1 pseudogene 10 X X X p11.22 57001421 57002329 - 53170870 53173166 - 53141688 53143984 - 6592095 83 ABBA01056377;AL139396;AMYH02039459;NG_003039 1791616;2218708 PMC117352P1;RI01350 ACTGP10;ACTL1;ACTP1 APPROVED pseudo HGNC:155 INFERRED 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 17 q25 2732 5130 - 79476997 79479892 - 81509971 81512890 - 1331525;6480464;6907045;7240710;8547669;8554872;8699517 15118671;20624897 10049817;10074138;10556093;10662538;10713718;10772929;10781580;10848969;10903505;10925289;10958671;10970852;11231575;11297527;11331876;11474115;11709093;11733011;11941484;12009869;12029070;12052877;12082080;12372613;12388543;12470643;12477932;12481031;12519370;12577067;12605685;12612070;12665555;12665801;12679033;12835311;12874605;1331119;13680526;14565974;14576350;14597672;14684684;14694110;14760703;15009185;15163409;15231748;1540415;15489334;15618548;15746964;15759055;1602151;16101678;16130169;16169070;16179592;16189514;16236267;16263121;16289162;16300736;16365169;16502470;16526095;16569662;16690605;16773128;16824795;16901892;17043677;17088428;17203973;17220478;17285762;17360745;17361185;17411366;17504171;17573780;17643375;17693642;17722883;17914456;17955473;18443296;18775311;18781797;18804074;19008859;19059912;1907279;19110265;19477959;19548389;19596686;19638415;19639585;19710135;19883584;1991513;19946888;20147394;20301607;20381070;20391533;20473970;20618440;20639865;20706999;20797700;20876399;20946988;20972266;21139048;21150319;21151833;21163940;21252943;21378166;21382349;21502360;21800051;21890473;21900206;21906983;21908715;21917091;21923909;21963094;21987572;21988832;22004035;22053931;22178446;22266860;22268729;22366783;22465675;22505724;22535526;22536838;22623428;22623803;22640593;22751105;22847007;22855531;22863883;22989508;22990118;23017337;23071112;23246001;23260110;23277564;23294842;23506231;23575248;23750785;23798571;23811015;23862649;23874603;23875777;24239288;24284654;24457600;24583282;24639526;24762104;24816145;25027693;2837653;3015198;3335520;3472224;3510866;3737401;6686106;6865942;6893424;7820861;7849017;8228254;8399167;8416954;8612804;8617195;8630056;8661406;8761950;8892894;8941379;8997639;9153421;9199338;9245787;9288906;9362513;9535896;9808630;9841925;9971772 71 I3L1U9;I3L3I0;I3L3R2;I3L4N8;J3KT65;K7EM38;P63261 ABBA01032150;AC139149;AK291937;AK301175;AK304637;AMYH02034131;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;EU668331;HC250969;HC311158;M16247;M19283;NG_011433;NM_001199954;NM_001614;NR_037688;X04098;XM_006722048;XM_006722049 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;ACF94484;BAF84626;BAG62762;BAG65416;CAA27723;CBJ05782;CBJ21234;NP_001186883;NP_001605;P63261;XP_006722111;XP_006722112 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;HEL-176 actin, cytoplasmic 2;cytoskeletal gamma-actin;epididymis luminal protein 176;gamma-actin APPROVED protein-coding ENSG00000184009 HGNC:144 00017 102560;604717;614583 REVIEWED 1342717 ACTG1P2 actin, gamma 1 pseudogene 2 Y Y Y q11 5217516 5225609 - 19868077 19870178 - 17756197 17758298 - 12815422;9847074 74 ABBA01007791;AC007742;NG_004636 2188611 G66357 ACTGP2;ACTL2 APPROVED pseudo HGNC:147 VALIDATED 1344031 ACTGP6 actin, gamma pseudogene 6 1692956 78 HGNC:151 1342857 ACTG1P9 actin, gamma 1 pseudogene 9 6 6 6 p12.3 47725200 47726849 + 46172649 46174298 + 46204912 46206561 + 8941379 82 ABBA01050622;AL035701;AMYH02013681;D50659;NG_001069 ACTGP9 APPROVED pseudo HGNC:154 INFERRED 1351015 ACTGP8 actin, gamma pseudogene 8 1692956 80 HGNC:153 1348277 ACTL4 actin-like 4 84 HGNC:158 1351647 ACTG1P3 actin, gamma 1 pseudogene 3 20 20 20 p13 1237490 1238977 + 1141154 1142641 + 1160510 1161997 + 1298670 8941379 10978293;3748813 75 ABBA01053766;AF196978;AF196979;AL031665;AMYH02036563;D50657;NG_000842;X04224 ACTGP3;dJ545L17.4 APPROVED pseudo HGNC:148 INFERRED 1354054 ACTGP7 actin, gamma pseudogene 7 1692956 79 HGNC:152 1349352 ACTG1P4 actin, gamma 1 pseudogene 4 INTERACTS WITH paraoxon 1 1 1 p21.1 102304213 102306200 + 104112026 104114013 + 103569404 103571391 + 6480464 1692956;2458567 648740;76 Q6YL44 ABBA01045412;AC105272;AMYH02001592;AY129015;NR_024438 AAM98758 Hs.721681 1741403;5019379 GDB:181084;PMC133998P8 ACTGP4 APPROVED pseudo HGNC:149 VALIDATED 1345012 ACTL5 actin-like 5 1406950 85 HGNC:159 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 2 p13.1 73951347 73978043 + 74120093 74146780 + 73892966 73919653 + 1300349;1300249;6480464;8699517;7240710;8554872 704425;734924 10049817;10074138;10556093;10655297;11709093;12009869;12450213;12477932;12612070;12670476;12777385;14627618;14694110;14702039;1540415;15489334;15703204;15815621;15862967;16526095;1673027;16824795;17009076;1710027;17360745;17411366;17504171;17554369;17620599;17934296;18443296;18775311;18781797;1907279;19639585;19797053;19883584;1991513;20147394;20639865;20706999;20876399;20946988;20972266;21139048;21203488;21890473;21906983;21917091;21923909;21963094;21987572;22004035;22053931;22465675;22505724;22535526;22640593;22722757;22810585;22960657;22989508;23000965;23017337;23071112;23246001;23260110;23294842;23575248;2377475;23811015;23875777;24337657;24816145;7759108;8530021;8661406;8892894;8997639;9841925;9971772 72 B8ZZJ2;C9JFL5;F8WB63;F8WCH0;P63267 ABBA01075590;ABBA01075591;ABBA01075592;ABBA01075593;AC073046;AK124338;AK304523;AK310215;AK312955;AMYH02004083;AY970439;AY970440;BC012617;BC094877;BI850192;CH471053;CR536515;CR541794;D00654;NG_034140;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;VSCM 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 HGNC:145 00016 102545;155310 REVIEWED 1346529 ACTL10 actin-like 10 20 20 20 q11.22 29007336 29009363 + 32254304 32256331 + 33666498 33668525 + 11780052;12477932 170487 Q5JWF8 ABBA01019224;AL121906;AMYH02036957;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 HGNC:16127 18570 VALIDATED 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 3 q26.33 177711580 177737071 + 179280708 179306193 + 179562920 179588405 + 6480464;8694154;9495920;9495926;9587760;8554872 21358755;21502417;23355908;23677776 10078207;10380635;10611965;10966108;11078522;11230166;11256614;11266125;11342225;11509179;11726552;11734557;11784859;11839798;12353638;12437990;12477932;12665591;12963728;14503849;14559996;14702039;14743216;14966270;14966289;15196461;15489334;15647280;15985610;16169070;16189514;16196087;16217013;16387653;17081983;17207965;17314511;17573780;17643375;17721549;17878219;18026119;18809673;18816825;18922472;19380743;19454010;19716452;19720835;19759913;20305087;20360068;20460684;20562864;21139048;21145461;21303910;21320693;21532573;21549307;21699904;21821000;21890473;21906983;21907836;21963094;22268729;22467210;22573825;22797925;22939629;23000965;23395444;23728344;23752268;24163370;24457600;24816145;8125298;8804307;8895581;9710619;9845365 86 C9JQT2;H7C5S0;O96019 AA256726;AB015907;AB060168;AB061315;ABBA01058530;ABBA01058531;AC090425;AC126184;AF041474;AK021756;AK098691;AK223212;AL136608;AMYH02008230;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;BAF53;BAF53A;INO80K;MGC5382;arpNbeta;hArpN beta 53 kDa BRG1-associated factor A;BAF complex 53 kDa subunit;BRG1-associated factor 53A;INO80 complex subunit K;OTTHUMP00000212444;OTTHUMP00000212445;actin-like protein 6A;actin-related protein 4;actin-related protein Baf53a APPROVED protein-coding ENSG00000136518 HGNC:24124 05389 604958 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 + 111624603 111626035 + 108862228 108863755 + 1580863;6480464 10373328;10611965;12052866;12477932;12571287;12695497;15164053;15489334;18720898;21263130;21278383;21832049;22386842 10881 Q9Y615 AB284520;ABBA01042777;AF113526;AK314981;AL359692;AMYH02021430;BC014610;CH471105;HC006760;HY010941;HY195619;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 HGNC:161 11976 604303 REVIEWED 1602092 ACTL8 actin-like 8 INVOLVED IN epithelial cell differentiation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH 5-fluorouracil; vincristine 1 1 1 p36.2-p35 16475534 16479615 + 18081808 18153558 + 17755313 17827063 + 6480464;8554872 12477932;14702039;17623298;18029348;21963094;23251661 81569 Q9H568 ABBA01000287;AK057339;AL136529;AMYH02000402;AMYH02000403;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 HGNC:24018 11274 VALIDATED 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 - 100240720 100254084 - 100643097 100656461 - 1580863;6480464;8694154;9495920;9587760;8554872 21358755;23355908;23677776 10380635;10611965;11726552;12368262;12437990;12477932;12565893;12690205;12853948;15489334;16169070;17207965;18029348;19460752;19913121;20628086;21832049;21900206;21906983;21963094;23222517;24816145;8804307;8889548;9799793;9847074 51412 C9JQT4;O94805 AB015906;ABBA01013193;ABBA01013194;ABBA01013195;AC099394;AF041475;AK314940;AMYH02016387;BC008582;BC020944;BM696009;CH236956;CH471091;NM_016188;XM_006716020 AAD54678;AAH20944;AAP21874;ADQ32375;BAA74576;BAG37446;EAL23823;EAW76502;EAW76503;EAW76504;EAW76505;NP_057272;O94805;XP_006716083 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 HGNC:160 12419 612458 REVIEWED 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 - 111616868 111618275 - 108854588 108855995 - 1580863;6480464 10373328;10611965;12477932;12907721;14702039;15164053;15489334;16344560;21832049;23776197 10880 Q9Y614 AB284521;ABBA01042777;AF113527;AI150021;AK097670;AK313871;AL359692;AMYH02021430;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 HGNC:162 11977 604304 REVIEWED 1602048 ACTL9 actin-like 9 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH fonofos; parathion; terbufos 19 19 19 p13.2 8627110 8628531 - 8807751 8809172 - 8697397 8698830 - 6480464;8554872 12477932;22197932;23278845 284382 Q8TC94 ABBA01016837;AC093230;AC243312;AI798166;AK292258;AMYH02035446;AY248901;BC024028;BC045752;HC007146;HC044569;HY011370;HY042660;NM_178525 AAH24028;AAH45752;AAP20052;BAF84947;CBH19378;CBH30614;NP_848620;Q8TC94 Hs.209206 HSD21;MGC33407 actin-like protein 9 protein-coding ENSG00000181786 HGNC:28494 14562 VALIDATED 6484054 ACTN4P1 actinin, alpha 4 pseudogene 1 4 4 4 q26 114811282 114812729 + 117519317 117520764 + 116598161 116599608 + 344978 ABBA01063863;AC106892;AMYH02009973;NG_022074 1710574;1851526;2129442 G01876;G34288;SHGC-82390 pseudo HGNC:44028 INFERRED 6483968 ACTN4P2 actinin, alpha 4 pseudogene 2 1 1 1 p34.3 36509945 36523016 + 38232107 38245184 + 37766435 37779512 + 20125193 391026 ABBA01023266;ABBA01023267;ABBA01023268;AC104336;AL929472;AMYH02000802 1336566 D1S186 pseudo HGNC: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 represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014] 11 11 11 q13.1 63634667 63651076 + 66314312 66330799 + 66546841 66563328 + 1298582;1580863;6480464;6907045;8554872 1339456 10192379;10656685;11171996;11309420;11440986;12477932;12692149;12837758;12879365;15221860;15489334;15718405;15808860;15817725;15841212;15886711;1629252;16612741;16807302;17033684;17339648;17468578;17550918;17560787;17627799;17630210;17848603;17879893;17986906;18043716;18470530;18637739;18651373;18676575;18687124;18718976;18756004;18801770;19016781;19038838;19150855;19237423;19405879;19422651;19544227;19696509;19807896;19913121;20005538;20010124;20013558;20044471;20044476;20069311;20089531;20148371;20222007;20459474;20561285;20628086;20699471;20734058;20830656;20845221;20936592;20952631;20966103;21072744;21299892;21407828;21472630;21491997;21542061;21784188;21842214;21890473;21926972;21930675;21933355;21956137;22045415;22117592;22224919;22247001;22253474;22639897;22648472;22855367;22868563;22891846;22916217;22983821;22996021;23000965;23092649;23145141;23190598;23348074;23358679;23359641;23522773;23539075;23676962;23681449;23689106;23868678;24058088;24091322;24114905;24313907;8104223;9675099 89 B4DZQ2;D6RH00;Q08043;Q4VAM3 ABBA01024074;AJ346025;AK125851;AK303044;AK313556;AL043389;AMYH02024979;AP002748;BC096323;BC099647;BC099648;BC099649;BQ575174;BU732652;CH471076;CX787471;DA827389;DA915904;M86407;NG_013304;NM_001104;NM_001258371;NR_047663 AAA51585;AAH96323;AAH99647;AAH99648;AAH99649;BAG36331;BAG64164;EAW74546;NP_001095;NP_001245300;Q08043 Hs.654432;Hs.737862 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 HGNC:165 02148 102574 REVIEWED 1350885 ACTN1-AS1 ACTN1 antisense RNA 1 14 14 q24.1 69446399 69454180 + 68979682 68987463 + 16344560 161159 ABBA01023682;AL117694;AMYH02029428;DB029126;HG506332;NR_073422 Hs.603341 C14orf84 ACTN1 antisense RNA 1 (non-protein coding) APPROVED ncrna ENSG00000259062 HGNC:20131 VALIDATED 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 14 q24 49401716 49506993 - 69340840 69446083 - 68874123 68979366 - 1298684;1300350;1580863;6480464;6484113;6907045;8699517;8554872;7240710 2349951;734925 10029173;10198040;10224105;10369880;10470015;10753915;10793131;10801846;10833443;10926853;11110697;11113628;11114196;11305911;11369769;11423549;11470434;11573089;11724819;11739652;11802708;11842093;11846417;11854440;11972044;11973348;12023963;12202484;12211109;12223541;12446711;12477932;12493766;12499399;12507293;12615977;12628297;12642359;12665801;12695497;12837758;14581471;14623081;14630798;14702039;15070900;15123239;15147863;15159419;15489334;15576338;15604093;15710624;15988023;16009940;16097034;16125169;16189514;16190873;16195373;16263121;16291744;1629252;16396496;16430917;16464232;16502470;16713569;16807302;16820411;16944923;16951376;17081983;17082780;17115122;1720388;17311919;17525629;17898132;17944866;17965186;17974975;18029348;18341635;18353764;18408146;18519573;18560563;18978946;18985028;19056867;19094982;19247474;19380743;19596686;19715605;19750481;19805454;1991513;20037648;20156433;20391533;20634891;20811636;20936779;21078624;21080425;21139048;21163940;2116421;21182205;21319273;21408150;21474972;2169343;21890473;21906983;21963094;21987572;21988832;22178446;22304920;22586326;22659138;22689882;22863883;22939629;23000965;23077236;23132927;23139387;23383273;23434115;23454549;23463506;23535732;23557398;23664615;23862649;23969696;24024966;24069336;24457600;24583282;24816145;25027693;25036637;2777757;2780298;7750553;7790378;7829101;7908020;7983147;8125298;8713105;8997639;9030526;9501083;9535896;9599291 87 G3V2E8;G3V2N5;G3V2W4;G3V2X9;G3V380;G3V5M4;H0YJ11;H0YJW3;H7C5W8;H9KV75;P12814 ABBA01023682;ABBA01023683;AJ844628;AK098203;AK124378;AK225782;AK294317;AK295099;AK298496;AK299362;AL117694;AMYH02029427;AMYH02029428;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 HGNC: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 1 q42-q43 210097994 210176743 + 236849754 236927931 + 236686454 236764631 + 1298582;1559161;1559162;1559160;1580863;6480464;6907045;7240710;8554872;8699517 11440986;1339456;14567970;9009191 10373510;10391924;10427098;10548523;10656685;10788519;10812072;10861853;10931874;10984498;11101506;11114196;11171996;11309420;11389904;11699871;11724819;11842093;11846417;12006649;12140183;12356918;12358155;12435606;12446711;12477932;12559088;12809483;12812986;12815021;12837758;12860415;14565974;14622581;14630798;1505962;15072553;15123239;15489334;15489953;15576338;15604093;15737636;15841212;15843396;16120608;16169070;1629252;16712791;16713569;16807302;16902413;17110593;17944866;18029348;18513529;18687124;19086053;19150855;19696509;19815520;19932097;20022194;20201926;20301486;20301725;20379614;20398908;20474083;20554076;20618440;21078624;21163940;21890473;21906983;21963094;21987572;21988832;22079093;22081385;22178446;22253474;22427672;22939629;22972877;23000965;23463506;24024966;24654937;8104223;8609175;8615909;8665664;9030526;9481670;9501083;9675099;9728925;9817758;9952395 88 B7Z4P8;P35609;Q59FD9 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;AMYH02002973;AMYH02002974;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 HGNC:164 00019 102573;612158 REVIEWED 1315176 ACTR10 actin-related protein 10 homolog (S. cerevisiae) INVOLVED IN microtubule-based movement (inferred); FOUND IN cytoplasm (inferred); dynactin complex (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; methyl methanesulfonate 14 14 14 q23.1 38716785 38752305 + 58666833 58702354 + 58200115 58235636 + 1580863;6480464 12477932;12857853;14702039;15489334;16341674;16712791;20360068;21139048;21906983;22053931;22863883;22939629;23000965;8125298 55860 F6S9Y6;G3V2Q5;G3V4K6;G3V524;G3V5Y4;H0YJD9;H0YJE8;Q9NZ32;V9GYX7 ABBA01018251;ABBA01018252;ABBA01018253;AF220190;AK000544;AK022248;AK022534;AK222624;AK222702;AK315537;AL121579;AL132989;AMYH02029271;AMYH02029272;AMYH02029273;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 ENSG00000131966 HGNC: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 19 q13 35940352 36023163 + 39138256 39221336 + 38647616 38730531 + 1598731;1300349;1580863;6480464;6484113;6907045;7240710;8554872;8699517 10700177;734924 10556093;10656685;10673389;10753915;10915794;11160423;11358829;11382784;11707406;11724819;11733011;11739652;11882289;11948184;12042308;12093915;12202484;12411747;12477932;12617336;12837758;12960352;14630798;15048094;15070900;15152255;15342556;15489334;15493875;15588985;15592455;15619032;15772161;15780077;15841212;16009940;1602151;16189514;16196087;16204054;16212417;16251236;1629252;16341674;16344560;16396496;16502470;16713569;16751776;16807302;16944923;16951376;16980305;17018644;17289661;17370265;17438131;17873890;17901210;17955473;17968527;18029348;18164029;18180332;18215660;18362906;18436095;18552466;18726620;18765526;18781797;19142020;19151661;19199708;19322201;19357256;19380743;19447967;19666657;19672209;19738201;19805454;19913121;19913389;19920151;19956976;20037648;20156433;20197409;20201926;20391533;20448150;20519146;20628086;20819441;20936779;21078624;21078666;21081666;21139048;21163940;2116421;21234524;21408150;21655212;21680739;21800051;21890413;21890473;21906983;21963094;21987572;21988832;22079093;22178446;22252987;22348389;22351778;22370640;22567897;22586326;22623428;22797925;22825873;22863883;22908231;22939629;22965004;23000411;23000965;23085994;23182705;23326349;23454549;23463506;23466492;23482348;23557398;23583979;23689571;23711888;23793025;23810014;23817592;23862649;23890478;23899839;24250222;24583282;24654937;24802111;24816145;24922688;25027693;8104223;9461087;9508771 81 F5GXS2;H7C144;K7EJH8;K7EP19;O43707 AA478431;AA847056;ABBA01040690;ABBA01040691;ABBA01040692;AC008649;AC022144;AK299955;AK304554;AK309361;AK309363;AK309364;AMYH02036076;AMYH02036077;AMYH02036078;AU118403;BC005033;BC015620;BM841805;BP332596;BX647098;CH471126;D89980;DQ431186;GU987085;NG_007082;NM_004924;U48734;XM_005259281;XM_005259282;XM_006723406 AAC17470;AAH05033;AAH15620;ABD96103;ABM84365;ABM87776;ADG03678;BAA24447;BAG61782;BAG65349;EAW56809;EAW56810;EAW56811;NP_004915;O43707;XP_005259338;XP_005259339;XP_006723469 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 HGNC:166 05222 603278;604638 REVIEWED 3004191 ACTR3BP1 ACTR3B pseudogene 1 Y Y Y q11.21 921 2529 - 13551549 13553192 + 11395873 11397516 + 9847074 643050 ABBA01032196;AC134879;NG_005799 APPROVED pseudo HGNC:37724 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 + 152456834 152552464 + 152759749 152887714 + 6480464;8554872 10047519;10806390;11162478;12477932;12853948;12857853;14651955;14702039;15176487;16169070;17353931;20379614;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;AMYH02017103;AMYH02017104;AMYH02017105;BC008682;BC015207;CH471209;DB570472;DN601600;NM_001040135;NM_020445;NR_073000;NR_073001;XM_006716064;XM_006716065;XM_006716066;XM_006716067;XM_006716068 AAC98904;AAH08682;AAH15207;AAP97150;AAS07430;ABM85680;ABW03746;BAD92411;BAG37914;BAG50867;BAG57575;BAH14449;EAW80446;NP_001035225;NP_065178;Q9P1U1;XP_006716127;XP_006716128;XP_006716129;XP_006716130;XP_006716131 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 HGNC:17256 12489 REVIEWED 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 2 p14 65301566 65345120 + 65454829 65498387 + 65227695 65271253 + 631743;6480464;6484113 9230079 10381382;10421578;10524632;10563804;10781580;10880444;11018051;11052943;11146629;11706047;11721045;11741539;12019562;12036877;12176354;12200375;12429845;12464680;12468383;12473693;12477932;12515716;12534372;12672817;12732638;12791263;12872157;15146197;15242766;15247266;15385624;15469433;15489334;15741236;15834156;16004967;16196087;16253999;16403731;16638851;17085436;17353931;17459058;17501982;18516090;18720401;18781797;19056867;19262673;19286135;19322201;19641626;19738201;19913427;19946888;20308691;20404198;20876399;21108927;21139048;21145461;21182205;21890473;21906983;21963094;21987572;21988832;22053931;22100162;22118674;22125478;22505724;22586326;22797925;22863883;22939629;23000965;23051739;23077236;23212915;24344184;24469447;24816145;24872192;25015289;25027693;9000076;9210376;9359840;9889097 10097 F5H6T1;P61160 ABBA01075438;AC007318;AF006082;AK295157;AK301634;AK315205;AL049356;AMYH02003978;AMYH02003979;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 HGNC:169 05023 604221 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 - 98272402 98280561 - 97655939 97664098 - 1580863;6480464;8554872 10343100;11256614;12477932;12857853;15489334;15815621;16169070;17619203;19946888;19996280;20360068;21139048;21145461;21832049;21900206;21906983;22863883;22939629;7696711;9436979 10120 P42025 ABBA01073975;AC017099;AMYH02004375;BC004374;BC006372;BC010090;BC025274;CH471127;NM_005735;X82207;X82208;XM_005263854 AAH04374;AAH06372;AAH10090;AAY24280;ABM84364;ABM87747;CAA57691;CAA57692;EAX01923;EAX01924;EAX01925;EAX01926;EAX01927;EAX01928;NP_005726;P42025;XP_005263911 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 HGNC:168 05508 605144 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 10 q24.32 97979888 98003421 - 104238986 104262580 - 102479229 102502755 - 6480464;8554872 10074429;10196146;10504299;10607828;10671377;10671518;11076863;11076968;11256614;11357136;11461920;11483508;12221128;12477932;12852856;12857853;12871323;1356230;14702039;15164054;1528266;15489334;15489336;16196087;16381901;16462731;18303113;19056867;19737819;20360068;21110914;21139048;21145461;21890473;21906983;21963094;22863883;22939629;23000965;23184937;23535732;24250222;24816145;25027693;7518465;7696711;7790358;7878030;8991093;9499420 10121 AAB23391;B4DXP9;P61163;R4GMT0 ABBA01063151;ABBA01063152;ABBA01063153;AK096085;AK297362;AK297620;AK302072;AK312506;AL121928;AMYH02023697;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 HGNC:167 05507 605143 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 2 q14.1 107963979 108036693 + 114647511 114719131 + 113889934 113961554 + 631743;6480464;6484113;8554872 9230079 10381382;10421578;10524632;10563804;10781580;10806390;11018051;11052943;11146629;11231575;11721045;11741539;11790298;11882288;12036877;12176354;12176742;12200375;12429845;12464680;12473693;12477932;12534372;12672817;12732638;12791263;12829704;12872157;15242766;15247266;15279900;15385624;15469433;15489334;15592455;15635413;15741236;16004967;16253999;16403731;17085436;17353931;17501982;17524364;17576929;18516090;18781797;19056867;19262673;19286135;19738201;19913427;19946888;20195357;20308691;20360068;20404198;20585556;20603326;20876399;20974812;21108927;21139048;21182205;21890473;21906983;21963094;22053931;22100162;22145905;22261722;22505724;22586326;22797925;22863883;22939629;23000965;23051739;23166591;23320827;24058526;24344184;24469447;24816145;24872192;25027693;9000076;9210376;9359840;9860974;9889097 10096 B4DXW1;F8WDR7;F8WE84;F8WEW2;P61158 AB209353;ABBA01045977;ABBA01045978;AC110769;AF006083;AF127773;AI521063;AK300030;AK300224;AK302152;AK302359;AK303988;AK312659;AK316213;AK316396;AL832773;AMYH02004603;AMYH02004604;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 ENSG00000115091 HGNC:170 05024 604222 REVIEWED 4108510 ACTR3BP2 ACTR3B pseudogene 2 2 2 2 p11.1 66414 67751 - 92129159 92130496 + 91941133 91942470 + 440888 Q9BWW1 ABBA01048753;AC128677;AMYH02004287;AY026351;CH471366;NR_027714 AAK31777;EAW50837;EAW50838 Hs.730239 5094658 PMC310890P1 FKSG73 APPROVED pseudo HGNC:38677 VALIDATED 4108537 ACTR3BP3 ACTR3B pseudogene 3 16 16 p11.2 32389949 32391590 - 32378627 32380268 - 647156 Q9BWW0 ABBA01002154;AC138915;AMYH02031863;CH471357;NG_005800 EAW51523 APPROVED pseudo HGNC:38678 INFERRED 4109585 ACTR3BP5 ACTR3B pseudogene 5 10 10 10 p11.1 216453 217726 - 38989727 38991372 + 38696596 38698241 + 399746 ABBA01003903;AL133173;AMYH02022672;AY026352;NR_045000 AAK31778 Hs.742607 5094658 PMC310890P1 FKSG74 APPROVED pseudo HGNC:38682 VALIDATED 4109092 ACTR3BP6 ACTR3B pseudogene 6 22 22 22 q11.1 66402 68043 - 16967583 16969226 + 16486693 16488336 + 644773 Q9BWW2 AC137499;AMYH02037976;AP000546;AP000547;AY026350;NG_005801 AAK31776 APPROVED pseudo HGNC:38683 INFERRED 4109091 ACTR3BP4 ACTR3B pseudogene 4 4 4 4 q24 101180392 101182025 + 103883285 103884928 + 102962129 102963771 + 9847074 777774 ABBA01063705;AC083826;AMYH02009821;NG_005802;NG_008662 APPROVED pseudo HGNC:38681 INFERRED 4108897 ACTR3P2 ACTR3 pseudogene 2 X X X q13.1 68344091 68345347 + 67991165 67992421 + 68771322 68772578 + 100129013 ABBA01067385;AL353587;AMYH02039646;NG_022669 APPROVED pseudo HGNC:38676 INFERRED 2923209 ACTR3C ARP3 actin-related protein 3 homolog C (yeast) ENCODES a protein that exhibits actin binding (inferred); ATP binding (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH cyclosporin A; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 7 7 7 q36.1 147954920 147965656 + 149944301 150020758 - 150247212 150323714 - 6480464 11162478;14651955;16344560;8889548 653857 C9IZN3;C9J580;H7C4J1;Q9C0K3 AB039791;ABBA01035192;ABBA01035193;ABBA01035194;ABBA01035195;ABBA01035196;AC005586;AC006008;AK130039;AMYH02017057;BM674900;BX640643;DA868104;DN992136;DR004860;NM_001164458;NM_001164459;XM_005250043 BAB21501;BAC85283;CAI56711;NP_001157930;NP_001157931;Q9C0K3;XP_005250100 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 HGNC:37282 VALIDATED 4109173 ACTR3P3 ACTR3 pseudogene 3 3 3 3 q12.2 99273655 99274600 + 100881938 100882883 + 101163094 101164039 + 100128020 ABBA01061779;AC093008;AMYH02007312;NG_022261 APPROVED pseudo HGNC:38679 INFERRED 1343118 ACTR3P1 ACTR3 pseudogene 1 14 14 14 q11.2 1915758 1918332 - 22053413 22054404 - 21585289 21586280 - 100288580 ABBA01061261;AC243972;AE000521;NG_023029 APPROVED pseudo HGNC:31820 INFERRED 6771192 ACTR6P1 ACTR6 pseudogene 1 4 4 4 105056690 105057760 - 107757658 107758728 - 106836501 106837571 - 100421495 ABBA01063745;AC104829;AMYH02009864;NG_025147 APPROVED pseudo HGNC:44210 INFERRED 1317453 ACTR5 ARP5 actin-related protein 5 homolog (yeast) INVOLVED IN double-strand break repair; UV-damage excision repair; PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; FOUND IN cytoplasm; Ino80 complex; nucleus; INTERACTS WITH copper(2+) sulfate; hydrogen peroxide; aflatoxin B1 (ortholog) 20 20 20 q11.23 34087821 34111793 + 37376933 37401089 + 38748294 38772446 + 6480464;9495926 21502417 11780052;12477932;12601173;14702039;15489334;16230350;17643375;17721549;18026119;18163988;18922472;19014934;20197409;20855601;21303910;21900206;21906983;22939629;24163370;24567363 79913 Q9H9F9 ABBA01052531;ABBA01052532;AK022847;AL133519;AMYH02037062;AY211911;BC001324;BC006162;BC038402;BF529768;CH471077;NM_024855;XM_005260554;XM_005260555;XM_005260556;XM_005260557 AAH01324;AAH06162;AAH38402;AAO65164;BAB14270;EAW76010;EAW76011;NP_079131;Q9H9F9;XP_005260611;XP_005260612;XP_005260613;XP_005260614 Hs.371585 1750857;2174373 RH65503;SHGC-104591 Arp5;FLJ12785;INO80M;hARP5 INO80 complex subunit M;OTTHUMP00000030976;actin-related protein 5;sarcoma antigen NY-SAR-16 protein-coding ENSG00000101442 HGNC:14671 08575 VALIDATED 1312146 ACTR6 ARP6 actin-related protein 6 homolog (yeast) PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; FOUND IN cytoplasm (inferred); cytoskeleton (inferred); nucleus (inferred); INTERACTS WITH 2-methylcholine; cobalt dichloride; hydrogen peroxide 12 12 12 q23.1 100259848 100283475 + 100593865 100618202 + 100200087 100224424 + 737633;1580863;6480464;9495926 12477932;21502417 11368909;14702039;15489334;15647280;16344560;16487625;17207965;17643375;20473270;21890473;21906983;22467210;8125298 64431 F8VP72;F8VRL1;F8VSD1;F8W043;F8W057;F8W0Q1;G3V1Y1;Q9GZN1 AB038229;ABBA01053261;ABBA01053262;ABBA01053263;AC010203;AC026110;AC253559;AF161399;AF175226;AF212251;AK023495;AK023684;AK124075;AK222959;AK296991;AMYH02027054;AMYH02027055;AMYH02027056;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 HGNC:24025 12421 VALIDATED 1323563 ACTR8 ARP8 actin-related protein 8 homolog (yeast) ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN chromatin remodeling (inferred); DNA recombination (inferred); DNA repair (inferred); PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; FOUND IN Ino80 complex; nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog) 3 3 3 53868375 53883507 - 53898959 53916229 - 53865016 53882202 - 1580863;6480464;9495926 21502417 12477932;14702039;15188402;16230350;16344560;17081983;17643375;17721549;18026119;18163988;18922472;20971067;21048031;21303910;21906983;22210892;22939629;22977180;23000965;24144296;24250222;24816145 93973 C9J7L6;H0Y849;Q9H981 ABBA01024471;AC012467;AK022996;AK026232;AK094507;AMYH02006831;BC032744;BU070174;BX354684;CH471055;DA453867;NM_022899;XM_005265587;XM_006713419 AAH32744;BAB14352;BAB15402;BAG52879;EAW65300;NP_075050;Q9H981;XP_005265644;XP_006713482 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 HGNC:14672 09792 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 + 2938046 2939467 + 3021482 3022903 + 6480464;8554872 11750065;12243744;12477932;15342556;15489334;18029348 140625 Q8TDY3;Q96LK1 AB057364;ABBA01073669;AF440740;AK058153;AK314500;AL356984;AMYH02000132;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 hArpM2 APPROVED protein-coding ENSG00000169717 HGNC:24026 12254 608535 REVIEWED 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 - 127184941 127186382 - 128050962 128052403 - 6480464;8554872 12243744;12477932;15489334;15772651 139741 Q8TDG2 ABBA01047641;AF440739;AMYH02040449;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 APPROVED protein-coding ENSG00000123165 HGNC:24027 06439 300487 REVIEWED 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 12 q13 51147747 51193153 + 52345451 52390863 + 51951667 51997079 + 1598735;1580888;1580863;1559169;2317217;6480464;8554872 11248065;12770730;14993131;9714055 10652306;11117535;11266516;11278302;11279102;11356828;11389842;11909953;11969340;12023024;12032389;12065756;12112843;12364468;12477932;12639945;12651901;12665502;12857866;12919325;14517293;15123686;15196700;15459392;15489334;15611116;15908921;16720724;17906079;18039968;19035567;19322201;19758997;19953087;20226172;20347265;20379614;20596523;20663871;20734064;20819778;21063444;21377836;21791611;21988832;22267736;22939624;23010638;23159635;23211491;23263486;7791754;7890768;8058741;8196624;8397373;8612709;8622651;9032295;9202237;9501322;9738003;9884026;9892009 91 F5H5Q2;P36896 ABBA01031621;ABBA01031622;AC025259;AK299120;AK299496;AL117643;AMYH02026495;BC000254;BC034008;BC040531;BT007072;CH471111;L10125;L10126;L31848;NG_022926;NM_004302;NM_020327;NM_020328;U14722;XM_006719685;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;XP_006719748 Hs.438918 1694492;1720981;1747709;1747711;1748361;1795286;2134191;2162040;2174779 A003N21;ACVR1B_689;G42984;G59320;G64251;G64263;G64264;GDB:679112;RH69000 ACVRLK4;ALK4;SKR2 ACTRIB;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 HGNC:172 03193 601300 REVIEWED 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 3 p22 38431705 38470515 + 38495790 38534633 + 38454299 38493142 + 1300351;1580863;1559169;6480464;6907045;7240710;8699517;8554872 12770730;734934 10212081;10391213;10504300;10702675;10766733;11094085;11266516;11278302;11279102;11306176;11459935;11882656;11969340;12477932;12493773;12651901;12782414;14517293;14738881;15064755;15123239;15123686;15304227;15342556;15451561;15489334;15611116;15621726;16845371;17347381;17356069;17893364;18436533;19453261;19903896;20424473;20466801;20663871;20734064;21353874;21864452;22296042;22395277;22431721;22718755;22939624;8161782;8242742;8612709;8622651;8702914;9202237;9621519;9748228;9872992;9916847 93 Q13705;Q71UM3 AB008681;AB209449;ABBA01024819;AF060200;AF060201;AF060202;AF075005;AMYH02006571;AP006191;BC096243;BC096244;BC096245;BC099642;BP352716;CH471055;NG_011791;NM_001106;X77533;XM_005265583 AAC28458;AAC64515;AAH96243;AAH96244;AAH96245;AAH99642;BAA24180;BAD92686;CAA54671;EAW64536;NP_001097;Q13705;XP_005265640 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 ENSG00000114739 HGNC:174 04106 602730;613751 REVIEWED 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 2 q22.3 142316710 142402536 + 148602086 148688396 + 147844517 147930827 + 1580863;1559169;2301061;2301065;2317217;2325239;6480464;6907045 12770730;14988818;16337854;9076583;9714055 10187774;10323406;10504300;10638976;10681527;10702675;10746731;11069203;11266516;11882656;11969340;12032389;12135884;12213882;12385827;12477932;12651901;12665502;12667445;1311955;1314589;14691305;14738881;15123239;15451561;15489334;15611116;15621726;15815621;16344560;16380996;1646080;16461635;16672363;16982625;17258738;17356069;17456004;17472960;18001154;18436533;18781190;18941508;19064572;19126782;19308291;19366699;19386982;19503063;19574343;20011542;20197483;20200332;20339536;20379614;20424473;20634197;20734064;20801928;20886391;21139048;21353880;21378277;21490791;21906983;21976273;22001236;22085900;22296042;22528352;22718755;22723898;22848350;22949641;23263486;23633461;7890768;8242742;8243335;8358434;8612709;8622651;8640777;8702914;8889548;8889549;8971337;9032295;9202237;9748228;9872992;9892009 92 P27037 AA125825;ABBA01028014;ABBA01028015;ABBA01028016;AC009480;AK301629;AK314124;AMYH02004947;AMYH02004948;AMYH02004949;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;XM_005263843 AAA35504;AAH67417;AAH67418;AAH69707;AAX93050;BAA06548;BAG36815;BAG63114;CAA44245;CAA44839;CCF77014;EAX11561;EAX11562;NP_001265508;NP_001265509;NP_001607;P27037;XP_005263900 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 HGNC:173 00025 102581 REVIEWED 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 2 q23-q24 152206070 152344336 - 158592958 158732374 - 157736446 157875862 - 1580863;1559169;2313802;2317217;6480464;6484113;6907045;7240710;8554872;8699517 11675415;12770730;9714055 10085121;10583507;10631143;10652350;10665670;11069203;11266516;11969340;12032389;12065756;12477932;12651901;12702211;12857866;15489334;15611116;15761153;16344560;16642017;17351709;17496924;17572636;18019378;18234825;18292470;18436533;18684712;18830232;18854405;18952055;19028479;19064572;19085907;19148527;19299629;19300893;19330033;19335617;19400542;19506109;19543505;19574343;19736306;19758997;19796185;19896889;19929436;19996292;20011542;20463014;20577760;20634197;20663871;20677014;20716560;20734064;20736820;21248739;21297076;21377447;21617230;21668474;21791611;21878751;22630080;22748444;22884369;22949078;22971142;22977237;23142694;23169291;23227223;23260810;23455153;24047559;24347165;24705250;24705251;24705252;24705254;24850914;7791754;7890683;8006002;8242742;8248234;8389764;8397373;8599089;8612709;8622651;8702914;9136927;9267036;9501322;9748228;9872992;9884026 90 C9J1R3;C9JHJ7;C9JW28;C9K064;D3DPA4;F5GY91;Q04771 A38807;ABBA01004847;AC013731;AC019186;AK297765;AK313630;AMYH02005048;AMYH02005049;AMYH02005050;AMYH02005051;AMYH02005052;BC033867;BC036748;CH471058;DA796090;HB448223;HI574330;HM015588;L02911;NG_008004;NM_001105;NM_001111067;XM_005246939;XM_005246940;XM_006712825;Z22534 AAA36614;AAH33867;AAY15094;AAY24272;ADL14509;BAG60113;CAA02405;CAA80256;CAZ91465;CBX47654;EAX11438;EAX11439;EAX11440;EAX11441;EAX11442;EAX11443;NP_001096;NP_001104537;Q04771;XP_005246996;XP_005246997;XP_006712888 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 ACVR1A;ACVRLK2;ALK2;FOP;SKR1;TSRI ACTRI;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 HGNC:171 00021 102576;135100 REVIEWED 1607001 ACTRT3 actin-related protein T3 ASSOCIATED WITH Dyskeratosis Congenita (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); male germ cell nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; paracetamol; aflatoxin B1 (ortholog) 3 3 3 q26.2 167883851 167885293 - 169484709 169487683 - 169766921 169769895 - 6480464;8554872 11750065;12477932;14702039;15489334;18692047;24163127 84517 Q9BYD9 AB049117;ABBA01058704;ABBA01182499;AC078802;AI811210;AK055346;AMYH02008099;AMYH02008100;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 APPROVED protein-coding ENSG00000184378 HGNC:24022 12253 608534 VALIDATED 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 2 q24.1 151996398 152098507 - 158383279 158485399 - 157526767 157628887 - 1580863;6480464;6907045;8554872 11485994;12063393;12477932;12606401;15107418;15150278;15196700;15489334;15531507;15815621;16603637;18480259;18784254;18951876;19275893;20734064;21356369;22086737;22939624;23765385;23793810 130399 Q53SF5;Q8NER5 ABBA01004847;AC019186;AC079750;AF525679;AF525680;AF525681;AMYH02005044;AMYH02005045;AMYH02005046;AMYH02005047;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 ACTR-IC;ACVRLK7;ALK-7;ALK7 OTTHUMP00000162803;OTTHUMP00000204601;OTTHUMP00000204602;OTTHUMP00000204603;activin receptor type IC;activin receptor type-1C;activin receptor-like kinase 7 1643253 BW133_H APPROVED protein-coding ENSG00000123612 HGNC:18123 10608 608981 VALIDATED 1352202 ACY3 aspartoacylase (aminocyclase) 3 ENCODES a protein that exhibits aminoacylase activity (ortholog); INVOLVED IN metabolic process (inferred); viral process (inferred); PARTICIPATES IN alanine, aspartate and glutamate metabolic pathway; histidine metabolic pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH atrazine; cyclosporin A; pirinixic acid 11 11 11 q13.2 64744479 64752583 - 67410026 67418130 - 67642555 67650659 - 1580863;6480464;6907045 12477932;14656720;15489334;17207965;19056867;19486448;19664597;21988832 91703 E9PRA7;Q96HD9 ABBA01024026;AF359506;AMYH02024997;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;N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming);OTTHUMP00000235614;OTTHUMP00000235615;acylase III;aminoacylase-3;aspartoacylase-2;hepatitis C virus core-binding protein 1 protein-coding ENSG00000132744 HGNC:24104 12422 614413 VALIDATED 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 - 75519924 75536181 - 75053221 75069478 - 1298556;1580863;6480464;6907045 7796909 12409302;12477932;12508121;14992377;15489334;1645713;2169259;21832049;21890473;21906983;3026468;9730610 97 G3V2U7;G3V3F8;G3V597;P07311 ABBA01030707;AC007055;AK312101;AL049780;AMYH02029529;AMYH02029530;AW390293;BC035568;BE467248;BG614847;BX104912;CH471061;NM_001107;NM_203488;X84194;XM_005268239;XM_005268240;XM_006720335 AAD31937;AAH35568;BAG35037;CAA58987;EAW81216;NP_001098;NP_982355;P07311;XP_005268296;XP_005268297;XP_006720398 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 HGNC:179 02928 600875 REVIEWED 6769114 ACVR2B-AS1 ACVR2B antisense RNA 1 3 3 3 p22.2 38428433 38432226 - 38492518 38496311 - 38451027 38454820 - 100128640 ABBA01024819;ABBA01024820;AK025619;AMYH02006570;AMYH02006571;AP006191;NG_011791;NR_028389 Hs.570596 5015961;5017170;5118718 D11S3590;D15S1477;L29953 APPROVED ncrna ENSG00000229589 HGNC:44161 VALIDATED 1353319 ACY1L aminoacylase 1-like 96 HGNC:178 1344501 AD2 Alzheimer disease 2 (APOE*E4-associated, late onset) ASSOCIATED WITH Alzheimer disease type 2 (inferred); Lipoprotein Glomerulopathy (inferred); Macular Degeneration, Age-Related, 1 (inferred) 7240710 HGNC:182 104310;269600;603075;611771 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 12 q13.13 51103338 51119286 + 52300657 52317145 + 51906913 51923361 + 1580863;1598736;1300352;1601117;1300250;1601116;1559169;5128837;5128842;6480464;6484113;7240710;8554872;8699517 11062473;11586351;12770730;14684682;15024723;17392319;20056902;20228181 10187774;10694922;10716993;10767348;11170071;11266516;11278302;11279102;11356828;11484689;12065756;12114496;12393874;12453878;12477932;12920067;14580334;14702039;15489334;15517393;15611116;15687131;15702480;15712270;15712271;15880681;15951295;16049014;16179574;16429404;16470589;16525724;16540754;16542389;16705692;16752392;16776339;16785228;16861286;16941203;17068149;17219009;17224686;17311849;17388964;17620321;17786384;18029348;18065769;18159113;18187665;18285823;18309101;18312453;18333754;18498373;18543223;18607909;18673552;18829861;18855162;18949376;18972447;18974388;19051722;19270816;19357124;19366699;19494318;19506300;19508727;19592636;19758997;19903896;19913121;20065063;20124460;20301525;20346360;20414677;20424473;20501893;20587022;20628086;20734064;21158752;21212415;21465483;21546842;21791611;21967607;22013081;22028876;22087763;22233626;22277251;22391627;22493445;22632830;22677372;22718755;22799562;23048070;23124896;23263486;23447486;23460919;23707512;23919827;24189493;24319055;24323303;8242742;8397373;8640225;8717052;8928814;9245985;9651680 94 D9IPD9;E7EN07;F8W0N2;G3V1W8;H3BTZ2;P37023 A38805;ABBA01031620;AC025259;AK056725;AK298493;AK300619;AK303331;AMYH02026495;BC042637;CH471111;DN999570;HM161905;HM161906;L17075;NG_009549;NM_000020;NM_001077401;U77707;U77708;U77709;U77710;U77711;U77712;U77713;XM_005269235;Z22533 AAA16160;AAB61900;AAH42637;ADJ79922;ADJ79923;ADZ15645;BAG60701;BAG62312;BAG64396;CAA02404;CAA80255;EAW58211;EAW58212;EAW58213;EAW58214;NP_000011;NP_001070869;P37023;XP_005269292 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 HGNC:175 03181 600376;601284 REVIEWED 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 3 p21.1 51996840 52002495 + 52017300 52023218 + 51983284 51989202 + 1298689;1580863;6480464;6907045;7240710;8554872;8699517 1707030 11154063;11250542;12477932;12548635;12933810;15028279;15489334;15927344;15953868;16189514;16274666;16313167;16404153;16465618;16889417;16962797;17045186;17516490;17562838;18341290;19056867;20480396;21044950;21128244;21414403;21832049;21906983;21963094;21987572;21988832;23317546;23739232;24654937;24846301;2542383;2745715;373141;6248297;6781469;6803586;6948533;7974002;8357837;8394326 95 B4DNW0;C9JYZ0;F8WC59;Q03154;V9HWA0 ABBA01024516;AC115284;AK298274;AMYH02006795;BC000545;BC003023;BC014112;BE269642;CD014023;CD014026;CD014027;CH471055;D14524;D16307;EU794586;L07548;NG_012036;NM_000666;NM_001198895;NM_001198896;NM_001198897;NM_001198898 AAA02852;AAH00545;AAH03023;AAH14112;ABM82834;ABM87833;ACJ13640;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;HEL-S-5 N-acyl-L-amino-acid amidohydrolase;OTTHUMP00000212459;OTTHUMP00000212462;OTTHUMP00000212463;OTTHUMP00000212464;OTTHUMP00000212465;OTTHUMP00000220363;acylase;aminoacylase-1;epididymis secretory protein Li 5 APPROVED protein-coding ENSG00000114786;ENSG00000243989 HGNC:177 00092 104620;609924 REVIEWED 1345672 AD5 Alzheimer disease 5 ASSOCIATED WITH Alzheimer Disease (inferred); Alzheimer Disease 5 (inferred) 7240710 10712207;9333264 8081 1298109;1335012;7186564 D12S1045;D12S98 HGNC:185 104300;602096 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 11897561;15346770;15652152;9399956 27308 O60448 AF010144 AAC08737;O60448 AD7CNTP protein-coding 07595 7174904 ADAD1P2 adenosine deaminase domain containing 1 (testis-specific) pseudogene 2 18 18 18 44446740 44447434 + 47590162 47590856 + 50063792 50064486 + 100422407 ABBA01018667;AC091044;AMYH02034702;NG_026329 pseudo HGNC:44552 INFERRED 7174907 ADAD1P1 adenosine deaminase domain containing 1 (testis-specific) pseudogene 1 3 3 3 39269809 39270973 + 39328225 39329389 + 39286734 39287898 + 100422386 ABBA01024808;AC092053;AMYH02006586;NG_025689 pseudo HGNC:44550 INFERRED 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 2 p16.2 54183282 54373292 + 54342410 54532437 + 54115273 54305300 + 1580863;6480464;6907045 10542090;11799398;12409302;12477932;15489334;15670608;16084386;18649358;18809411;19851296;20198315;20379614;20877624;21658281;22522822;23754389;24250222;24816145;3026468;6100723;7487897;7796909;8268218;9070879;9395090 98 E9PF46;F8WA34;P14621;U3KPX1;U3KPX8;U3KQ09;U3KQ94;U3KQL2 ABBA01075249;ABBA01075250;ABBA01075251;ABBA01075252;AC008280;AC073879;AC092622;AC108929;AK307096;AMYH02003840;AMYH02003841;AMYH02003842;AMYH02003843;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 HGNC:180 00028 102595 REVIEWED 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 20 q13.12 39956805 39989017 - 43248160 43280376 - 44619519 44651735 - 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;8554872;8699517 10410539;12194640;12472193;15168879;15969953;16501670;16641873;16754522;16860713;17259686;18561952;19166862;20228181;20809996;21161045;21320715;6090454;8227344;9255891;9478961;9605386;9784839 10506947;10899322;11121182;11125033;11278278;11354825;11534018;11772392;11780052;11901152;11999881;12104097;12113294;12150791;12381379;12477932;12712614;12774669;12809673;1284479;12935677;14684150;14726805;15016824;15063762;15257174;15281007;15489334;15632314;15761857;15983379;16133068;16221767;16224193;16410722;16670267;16724628;16886895;1696926;16970880;17181544;17243920;17287605;17340203;17397971;17536804;17696452;18029348;1807098;18218852;18222177;18302529;18357489;18560234;18562134;1856451;18597230;18673094;18680557;18768081;18794722;19019667;19026999;19086053;19172437;19237091;19470168;19521708;19628957;19633200;19668260;19703146;19789510;19845893;19901882;19913121;20147632;20174870;20180986;20301656;20306731;20347569;20392501;20412337;20414589;20453107;20480728;20522203;20548128;20554694;20581655;20590444;20615890;20628086;20651391;20805743;20836741;20872567;20943049;20959412;21044950;21198750;21269755;21350874;21359089;21365880;21461854;21496384;21593678;21640091;21725047;21734253;21856036;21860532;21865054;21906983;21919946;21988832;22062893;22086524;22104430;22184407;22257696;22505724;22614344;22719194;22942500;22952909;23066321;23096558;23128233;23160984;23193172;23240012;23433854;23768730;23897810;23959645;24257613;24453844;24640520;24722188;24816145;2770711;2783588;3010705;3028473;3182793;3348976;3560174;3838797;3839456;3839802;6198240;6208479;6526272;6546794;6688808;7371221;7570001;7594462;7599635;7759315;8031011;8101391;8125298;8242080;8299233;8452534;8589684;8894685;9103436;9154805;9225964;9247966;9299436;9330696;9361033;9414266;9674425 100 F5GWI4;F5GXW0;F5GYD4;P00813 ABBA01052645;ABBA01052646;AK123988;AK223397;AL139352;AL832305;AMYH02037137;BC007678;BC040226;BI601734;CH471077;HH769637;HH769781;KF456921;KJ534760;M13792;NG_007385;NM_000022;X02189;X02190;X02994;XM_005260236;XM_006723679;XR_244129;Z97053 AAA78791;AAH07678;AAH40226;ABM83607;ABM86850;AHW56400;BAD97117;CAA26130;CAA26734;CBX85542;CBX85614;EAW75904;EAW75905;EAW75906;EAW75907;NP_000013;P00813;XP_005260293;XP_006723742 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 APPROVED protein-coding ENSG00000196839 HGNC:186 00038 102700;608958 REVIEWED 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 ncrna HGNC:43841 1606972 ADAD1 adenosine deaminase domain containing 1 (testis-specific) ENCODES a protein that exhibits adenosine deaminase activity (inferred); RNA binding (inferred); INVOLVED IN multicellular organismal development (inferred); RNA processing (inferred); spermatid development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH theophylline; 4,4'-diaminodiphenylmethane (ortholog); pirinixic acid (ortholog) 4 4 4 q27 120683547 120734368 + 123300121 123350957 + 122378966 122429802 + 6480464;8554872 12477932;14702039;16344560;17554300;17558408;18311140;19302705;19523143;20549515;20553587;21297633;21829393;23817569;23817571;7543294;9541871 132612 C9JAT9;C9JGM6;Q96M93 ABBA01044734;ABBA01044735;AC022489;AK057303;AK093297;AMYH02010018;BC040229;CH471056;DB027040;DB040584;DB058857;DB059180;HC007332;NM_001159285;NM_001159295;NM_139243;XM_005262741;XM_005262742;XM_005262743;XM_005262744;XM_005262745 AAH40229;ABM84128;ABM84129;ABM87529;ABM87530;BAB71416;BAC04125;CBH19471;EAX05228;EAX05229;EAX05230;EAX05231;EAX05232;EAX05233;EAX05234;NP_001152757;NP_001152767;NP_640336;Q96M93;XP_005262798;XP_005262799;XP_005262800;XP_005262801;XP_005262802 Hs.518957 FLJ32741;Tenr OTTHUMP00000196372;OTTHUMP00000196373;OTTHUMP00000196374;adenosine deaminase domain-containing protein 1;testis nuclear RNA-binding protein protein-coding ENSG00000164113 HGNC:30713 15594 614130 VALIDATED 1602291 ADAD2 adenosine deaminase domain containing 2 ENCODES a protein that exhibits adenosine deaminase activity (inferred); RNA binding (inferred); INVOLVED IN RNA processing (inferred); INTERACTS WITH (+)-catechin 16 16 16 q24.1 68526534 68532570 + 84224723 84230772 + 84191117 84197166 + 12477932;14702039;16344560;21832049;22589738;8889548 161931 H3BNP6;Q8NCV1 ABBA01016918;AC009123;AF447586;AK093046;AK093523;AK131102;AK315171;AMYH02032562;BC033491;BU731201;CH471114;DB036324;NM_001145400;NM_139174;XM_005255814;XM_006721154 AAH33491;AAM22869;ADZ15469;BAC04032;BAC85152;BAG37613;EAW95491;EAW95492;EAW95493;EAW95494;NP_001138872;NP_631913;Q8NCV1;XP_005255871;XP_006721217 Hs.8977 5020948 G35510 FLJ00337;TENRL OTTHUMP00000174989;adenosine deaminase domain-containing protein 2;testis nuclear RNA-binding protein-like protein-coding ENSG00000140955 HGNC:30714 14107 VALIDATED 1351482 ADAM14 a disintegrin and metalloproteinase domain 14 8752 HGNC:192 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 15 q22 35776749 35930110 - 58887403 59042177 - 58595204 58749978 - 1300252;1580863;2302204;1559151;2317976;5129489;6480464;5686846;6484113;6907045;8699517;7240710;8554872 12354787;15688065;15950787;17761886;20621845;21145125 10423016;10527948;10737800;10958785;11477090;11511685;11741929;11786905;11831872;11839628;12080182;12176995;12438920;12475894;12477932;12535668;12568494;12590602;12629514;12665519;12714508;12730960;12782344;12794186;12815056;12832423;12960155;14627705;14636066;14702039;14707550;15182369;15280379;15280425;15300588;15507448;15905513;15958533;16239146;16263114;16263699;16309826;16344560;16390331;16627989;16648485;16735514;16751190;16806063;16942750;17170699;17187903;17192395;17290285;17557115;17699774;17727679;17895248;17965014;18074395;18187620;18200054;18215140;18355445;18373975;18381078;18420943;18480749;18514661;18603587;18642355;18676862;18781797;18952609;18971959;18979631;18981120;19091752;19114711;19144697;19260824;19278423;19344981;19357285;19394555;19426159;19435795;19541935;19564338;19587294;19603142;19608551;19632330;19665015;19667218;19672558;19704010;19783906;19823572;19826051;19865098;19913121;19946888;20059578;20070888;20136654;20348102;20371803;20381196;20443867;20624979;20628086;20676056;20677014;20711474;20814017;20863729;21103979;21123580;21171968;21196064;21259244;21368228;21402705;21441465;21569301;21576249;21611732;21625236;21695060;21804545;21876729;21906983;21956108;21959176;21969210;22006996;22065584;22116825;22167753;22268729;22404213;22474035;22505724;22572541;22586143;22613720;22641052;22689693;22770404;22923171;22933306;22939629;22940701;22965144;23035126;23124962;23192951;23306532;23317503;23429442;23460612;23526433;23546882;23579328;23666529;23674691;23676497;23720309;23746173;23773531;23912592;24055016;24055471;24121505;24130797;24165480;24189063;24247244;24250222;24286866;24386293;24404179;24518602;24530397;24654937;24662289;24725932;24833351;7593158;7822279;8694785;9016778;9305925;9344679;9441766;9618175 102 B5MC71;C9J9B4;H0YK32;H0YK87;H0YNC5;H3BS53;O14672 AA243020;ABBA01038983;AC018904;AC091046;AF009615;AK023460;AK300472;AMYH02030528;AMYH02030529;AMYH02030530;AMYH02030531;AMYH02030532;AY726599;BC055087;BC104659;BC126253;BC143935;BE327886;BE934813;BX372217;CH471082;DA941750;NG_033876;NM_001110;XM_005254117;Z48579 AAC51766;AAI26254;BAG62190;CAA88463;EAW77539;EAW77540;EAW77541;NP_001101;O14672;XP_005254174 Hs.172028;Hs.578508;Hs.745136 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;AD18;ADAM 10;CD156c;CDw156;HsT18717;MADM;RAK;kuz OTTHUMP00000163471;OTTHUMP00000165066;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 HGNC:188 03723 602192;615537;615590 REVIEWED 1342889 ADAM13 a disintegrin and metalloproteinase domain 13 8753 HGNC:191 1605272 ADAL adenosine deaminase-like ENCODES a protein that exhibits adenosine deaminase activity; INVOLVED IN drug metabolic process (inferred); metabolic process (inferred); nucleobase-containing small molecule metabolic process (inferred); FOUND IN cytosol (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A; methyl methanesulfonate 15 15 15 q15.3 20393719 20416958 + 43622872 43646096 + 43330356 43354555 + 6480464 12477932;21755941;23645737 161823 H3BQR9;H3BUD6;Q6DHV7 ABBA01038350;AC009852;AC018924;AK126583;AK298870;AMYH02030303;AX420459;BC075857;BQ015642;BX647599;CA436653;CH471125;HY164938;NM_001012969;NM_001159280;XM_005254204;XM_005254205;XM_005254206 AAH75857;BAG54348;BAG60990;CAD35487;EAW92598;EAW92599;NP_001012987;NP_001152752;Q6DHV7;XP_005254261;XP_005254262;XP_005254263 Hs.533913 1671677;5015879;5022588;5094004 A010A25;D5S1597E;G33049;GDB:314949 DKFZp313B2137;FLJ44620 adenosine deaminase-like protein protein-coding ENSG00000168803 HGNC:31853 11779 VALIDATED 1345025 ADAM16 a disintegrin and metalloproteinase domain 16 8750 HGNC:194 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 + 42836405 42859214 + 44759037 44781846 + 1580863;6480464 11076863;11545539;12477932;14759258;15146197;15203218;16169070;7593158;7956356;8252040;9693107 4185 AAB29191;B4DKD2;H7BY08;K7EKA8;O75078 AB009675;ABBA01028347;ABBA01028348;ABBA01028349;AC005180;AK296512;AMYH02033496;AMYH02033497;AMYH02033498;BC144550;CD630831;CD630842;CH471178;CN418442;D17390;D31872;NM_002390;XM_005257373 AAB29191;AAI11917;BAA04213;BAA06670;BAA06671;BAA32352;BAG59144;EAW51578;EAW51579;EAW51580;NP_002381;O75078;XP_005257430 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 HGNC:189 01114 155120 REVIEWED 1317265 ADAM12 ADAM metallopeptidase domain 12 This gene encodes a member of a family of proteins that are 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. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014] 10 10 10 q26 121478343 121851743 - 127700960 128077127 - 126012385 126388558 - 1625347;1559174;1580863;2317976;6480464;6484113;8554872 15334463;15688065;15910695 10329602;10788519;10831617;10849447;10944520;11095942;11127814;11313349;11786904;12000741;12000744;12456779;12477932;12509413;12615925;12717386;12915458;12915587;12952982;12975309;14691998;14702039;14743448;15242759;15280379;15358598;15364951;15381692;15509542;15574124;15574885;15586220;15662668;15710903;15930294;15994630;16061220;16139919;16213489;16344560;16385451;16453284;16455653;16495931;16752438;16869727;17066252;17189408;17278174;17440933;17465398;17620406;17701664;17846126;17987603;18029348;18081311;18241035;18264948;18264967;18311789;18342566;18365756;18382998;18395873;18519826;18604515;18621736;18785180;18801731;18978109;19003798;19040574;19213876;19266495;19268722;19278423;19285649;19544290;19544357;19609547;19736612;19769962;19837132;20013872;20090292;20187159;20197665;20218926;20230315;20305677;20379614;20404130;20457602;20509156;20509157;20533908;20688878;20951132;21034452;21103624;21112873;21173277;21240579;21258805;21277576;21330122;21493715;21501859;21518768;21617380;21875931;21986939;22015022;22089237;22267082;22284607;22309076;22357350;22540429;22589738;22662180;22676623;22678798;22767580;22808268;22847849;22882974;22903068;22926263;22927907;23135915;23319000;23324579;23400010;23421942;23458101;23491141;23517395;23578941;23589494;23645517;23680494;23771733;24006261;24096698;24116070;24116709;24243624;24690292;7566181;9417060;9642263 8038 A8K6G4;O43184;Q5JRP2;U5NE98 ABBA01034174;ABBA01034175;ABBA01034176;ABBA01034177;ABBA01034178;ABBA01034179;AC022015;AC026226;AC063963;AF023476;AF023477;AK055628;AK127856;AK291629;AL589787;AL691463;AMYH02023998;AMYH02023999;AMYH02024000;AMYH02024001;AMYH02024002;AMYH02024003;AMYH02024004;AY358878;BC060804;BX098286;CB960379;CH471066;DA027173;DA863951;DR004947;HC006764;HG975387;KF444157;NG_029050;NM_001288973;NM_001288974;NM_001288975;NM_003474;NM_021641;T91975 AAC08702;AAC08703;AAH60804;AAQ89237;AGX93290;BAF84318;CBH19188;EAW49205;EAW49206;EAW49207;EAW49208;EAW49209;NP_001275902;NP_001275903;NP_001275904;NP_003465;NP_067673;O43184 Hs.594351;Hs.741333 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 ADAM12-OT1;CAR10;MCMP;MCMPMltna;MLTN;MLTNA OTTHUMP00000020726;OTTHUMP00000020727;disintegrin and metalloproteinase domain-containing protein 12;meltrin-alpha;metalloprotease-disintegrin 12 transmembrane APPROVED protein-coding ENSG00000148848 HGNC:190 04092 602714 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 + 39442087 39587583 + 39584568 39730064 + 1580863;6480464;8554872 10395895;12200459;12477932;12975309;15489334;16344560;20379614;22174851;8125298;9665629 8749 E5RIP0;E5RK96;Q0VAI3;Q9Y3Q7 ABBA01015910;AC109633;AC136365;AC244257;AC245062;AJ133004;AK225744;AK313961;AY358321;BC034624;BC070279;BC121045;BC121046;CH471080;DB049415;KF458743;NM_001190956;NM_014237;XR_247133;XR_430697 AAH34624;AAH70279;AAI21046;AAI21047;AAQ88687;BAG36677;CAB40812;EAW63276;EAW63277;NP_001177885;NP_055052;Q9Y3Q7 Hs.127930 1336965 DXS1222 ADAM 18;ADAM27;MGC41836;MGC88272;tMDC III;tMDCIII OTTHUMP00000225672;OTTHUMP00000225673;OTTHUMP00000225674;OTTHUMP00000225676;a disintegrin and metalloproteinase domain 18;disintegrin and metalloproteinase domain-containing protein 18;putative ADAM18 gene product;transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein III;uncharacterized protein LOC8749 APPROVED protein-coding ENSG00000168619 HGNC:196 07469 REVIEWED 6898435 ADAM1B ADAM metallopeptidase domain 1B, pseudogene INTERACTS WITH benzo[a]pyrene (ortholog) 12 12 12 111990453 111992193 + 112364998 112366738 + 111927194 111928934 + 6480464 100420505 ABBA01019917;AC003029;AMYH02027213;NG_024129 pseudo HGNC:44366 INFERRED 1345474 ADAM1A ADAM metallopeptidase domain 1A, pseudogene INTERACTS WITH valproic acid; 3,4-methylenedioxymethamphetamine (ortholog); aflatoxin B1 (ortholog) 12 12 12 q24.13 111962428 111965067 + 112336867 112339706 + 111899063 111901902 + 6480464 10524237;11784061;16344560;9032439 8759 ABBA01019915;AC003029;AMYH02027212;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 HGNC:187 VALIDATED 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 5 q33.3 152930875 153029355 - 156822071 157002831 - 157477304 157575823 - 1580863;1559267;2317976;6480464;8554872 14673146;15688065 10531379;10887142;11116142;11162584;11708814;12006600;12058067;12393862;12463424;12477932;12682046;14702039;14719095;15242783;15896713;16772875;16827870;17112471;18458692;18714391;19079262;19423540;19601835;19727588;20010835;20406964;20438785;20460109;20889312;21239057;21270819;23000965;23284291;23429442;24322204;8358434;9461614;9806848 8728 E5RIS2;H0YC66;Q8TBU7;Q9H013 ABBA01044269;ABBA01044270;AC008676;AC008694;AC106801;AF134707;AF311317;AF326918;AK091464;AK093535;AK308182;AL049415;AMYH02012553;AMYH02012554;BC024214;BC033132;CH471062;HY088077;NM_033274;XM_005266003;Y13786 AAF22162;AAG50282;AAH24214;AAH33132;AAI40324;AAK07852;BAG52367;CAC20585;EAW61595;EAW61596;EAW61597;EAW61598;NP_150377;Q9H013;XP_005266060 Hs.483944 1697526;1731140;1785364;1788740;1795296;2163180 ADAM19_1480;D5S378;RH102268;RH128156;RH48594;SHGC-112298 ADAM 19;FKSG34;MLTNB ADAM metallopeptidase domain 19 (meltrin beta);MADDAM;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 HGNC:197 04704 603640 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 1 q21.3 128094785 128106774 + 155023748 155035252 + 155051272 155062776 + 1559176;2325247;6480464;8554872 15818704;17465204 10527948;10531379;10652535;10828588;10842103;11741929;11839628;11840679;11882657;12091380;12243749;12477932;12615925;12777399;12858436;12897135;14707550;15263807;15280379;15358598;15384173;15489334;15618016;15756594;16189514;16303743;16374509;16756724;16894352;17080222;17416588;17575078;17937806;18281484;18296648;18387333;18434311;18695922;18774960;19054571;19207106;19253070;19487280;19550037;19718658;20189953;20213810;20851104;21190186;21196774;21728902;21906983;21963094;21987572;22268729;22505472;22544741;22621184;23000965;23365087;23535732;23688428;23910172;23918525;8617717;8889548;9016778;9039960;9516430;9914169 8751 Q13444 AB209157;ABBA01016720;AF314227;AK000667;AK075498;AK295614;AK296925;AK297468;AK308172;AL451085;AL691442;AMYH02001939;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 ADAM 15;MDC-15;MDC15 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 HGNC:193 05674 605548 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 2 p25 9541264 9607791 - 9629392 9695917 - 9489263 9555788 - 1559178;1580863;1300253;2292150;2313250;2302204;2312470;2317976;5129489;5686834;5686846;6480464;6484113;6907045;8699517;7240710;8554872 12655295;15688065;15878627;17761886;19581416;19633828;20621845;21145125;22029668;9812885 10224132;10433800;10527948;10799478;10860581;10882063;11733179;11741929;11823465;11988096;12044879;12058067;12135369;12147693;12207026;12441351;12474981;12477932;12535668;12568494;12606576;12621058;12668732;12706122;12711607;12714588;12730960;12743035;12755693;12777399;12810728;12832423;12947092;12972643;14532978;14625290;14970227;15066987;15102849;15146197;15182369;15280379;15308656;15309730;15337756;15534001;15691827;15784625;15983030;16034137;16079149;16148149;16179345;16210695;16246259;16279945;16332693;16336275;16376986;16478662;16619241;16641105;16806063;16900751;16912185;16942750;16982746;17010968;17081983;17155946;17170699;17227756;17360351;17405915;17438092;17608729;17655843;17714581;17786981;17942404;17986144;17999917;18029348;18167350;18171982;18238782;18276953;18281553;18355445;18373975;18383040;18396294;18426733;18442814;18483258;18490652;18493210;18600307;18625725;18636124;18638486;18676862;18713734;18818406;18824549;18922903;18978678;18979631;19003995;19082505;19091752;19124506;19150341;19154693;19171023;19253070;19278423;19296470;19298600;19299578;19324423;19376560;19435795;19482949;19515085;19535569;19541935;19564338;19595713;19666115;19704010;19762488;19772640;19819120;19843672;19875451;19913121;19946888;19949420;19959661;20026129;20059578;20070837;20118276;20180536;20184396;20188673;20221248;20300049;20300969;20359533;20379614;20506406;20551051;20627730;20628086;20634891;20679348;20807704;20811902;20819075;20863729;20871631;20922190;21102583;21153921;21170088;21175594;21240579;21268712;21300824;21359495;21365281;21386996;21407195;21423656;21480393;21501859;21777519;21837402;21865167;21890473;21906983;21925169;21932060;21949123;22010916;22018416;22105359;22139867;22157716;22200661;22268729;22319627;22367719;22384041;22438584;22479555;22506015;22550340;22575642;22613720;22665490;22668812;22677042;22689693;22770404;22772468;22833676;22927435;22933306;22934512;22965144;22967992;23000965;23011796;23076445;23105116;23317503;23341882;23349873;23356982;23360525;23384719;23389772;23415892;23416080;23441135;23460612;23475633;23479224;23487023;23500026;23521534;23526433;23545805;23557259;23563789;23585341;23625205;23645517;23674691;23684931;23729230;23746173;23771674;23897050;23910172;24027752;24044434;24121505;24130797;24159190;24185966;24189063;24227843;24247244;24286866;24337742;24338472;24361716;24403253;24412389;24495306;24518602;24780186;24790088;24812125;24813629;24833351;24955855;8889548;9034190;9034191;9520379;9574564;9620803;9774383;9806848;9920899 6868 B2RNB2;E7EUI5;P78536 ABBA01015589;ABBA01015590;ABBA01015591;AC073195;AC080162;AC092206;AK289829;AMYH02003249;AMYH02003250;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 HGNC:195 04703 603639;614328 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 - 39601254 39695808 - 39743735 39838289 - 1580863;68863;6480464;8554872 9358007 10518536;11784061;11882657;12477932;15489334;16049941;17023585;18292840;19951893;22926424;8702389;9041139;9070941;9889149 2515 B4DWY7;Q6P2G0;Q99965 ABBA01015910;AC136365;AC244257;AJ133005;AK301734;AMYH02017845;AP005902;BC034957;BC064547;BG719616;BI460477;CH471080;HC044539;NM_001278113;NM_001278114;NM_001464;U38805;U52370;X99374;XM_005273468;XM_006725119 AAC51110;AAD04206;AAH34957;AAH64547;ABM82541;ABM85733;BAG63199;CAA67753;CAB40813;CBH30599;EAW63273;EAW63274;EAW63275;NP_001265042;NP_001265043;NP_001455;Q99965;XP_005273525;XP_006725182 Hs.177959 1749951;2129898;2216984 ADAM2_2713;RH70674;SHGC-111659 ADAM 2;CRYN1;CRYN2;CT15;FTNB;PH-30;PH-30b;PH30;PH30-beta OTTHUMP00000225677;OTTHUMP00000225678;OTTHUMP00000225679;OTTHUMP00000225680;cancer/testis antigen 15;disintegrin and metalloproteinase domain-containing protein 2;fertilin beta;fertilin subunit beta APPROVED protein-coding ENSG00000104755 HGNC:198 03322 601533 REVIEWED 6482992 ADAM20P2 ADAM metallopeptidase domain 20 pseudogene 2 4 4 176495753 176497344 + 175574602 175576193 + 100533671 ABBA01070404;AC105925;AMYH02010545;NG_028850 pseudo HGNC:43901 INFERRED 6482940 ADAM20P3 ADAM metallopeptidase domain 20 pseudogene 3 4 4 4 q35.2 185977031 185979101 - 188667288 188669359 - 187746134 187748205 - 20210993;9847074 644325 ABBA01070581;AC115540;AMYH02010696;NG_023541 pseudo HGNC: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 - 70989078 71022756 - 70522361 70556039 - 1580863;6480464 10524237;11807715;12477932;20467438;9469942 8748 O43506 AA400588;ABBA01030812;AF029899;AF158643;AL357153;AMYH02029450;AX704773;BC025378;CH471061;HC006766;HC044543;NM_003814;XM_005268151;XM_005268152 AAC52041;AAD55254;AAH25378;ABW03729;CAD88055;CBH19189;CBH30601;EAW81037;NP_003805;O43506;XP_005268208;XP_005268209 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 HGNC:199 04754 603712 REVIEWED 1345289 ADAM20P1 ADAM metallopeptidase domain 20 pseudogene 1 14 14 14 q24.2 50998968 51002976 - 70935593 70950473 - 70468876 70483756 - 10524237 317760 ABBA01030812;AF158638;AL357153;AMYH02029448;AMYH02029449;AMYH02029450;BC047939;NR_037933 Hs.188369 2113876 AB070079 C14orf55 APPROVED pseudo ENSG00000259158 HGNC:20102 VALIDATED 1350743 ADAM25 a disintegrin and metalloproteinase domain 25 11088 HGNC:204 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 2 q33 201069803 201244105 + 207308268 207485854 + 206443544 206621130 + 1580863;6480464;8554872 10524237;10749942;12477932;14697522;14702039;15146195;15146197;15862898;16094384;16103878;19089928;19322201;19477226;19549921;19824886;20379614;20851106;21429053;22688191;22937229;23898208;8619474;9110174;9693107 8745 E7EWD3;H7C2M6;O75077 AB009672;ABBA01062663;ABBA01062664;ABBA01062665;AC009225;AC010731;AC079136;AF052115;AF158641;AJ005580;AK091800;AK129906;AK296844;AMYH02005628;AMYH02005629;AMYH02005630;AMYH02005631;BC132763;BC132765;CH471063;CN399765;CS072966;H11006;NG_029874;NM_003812;R43984;XM_005246932 AAD55252;AAI32764;AAI32766;AAX93195;AAX93210;AAY14948;BAA32351;BAG59410;CAC20565;CAI93690;EAW70386;EAW70387;NP_003803;O75077;XP_005246989 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 ADAM 23;MDC-3;MDC3 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 HGNC:202 04752 603710 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 + 70918874 70926622 + 70452157 70459905 + 1580863;6480464;8554872 10524237;12477932;15489334;16344560;9469942 8747 Q9UKJ8 AA758110;ABBA01030812;AF029900;AF158644;AL357153;AL391223;AMYH02029448;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 HGNC:200 04755 603713 REVIEWED 1346763 ADAM21P1 ADAM metallopeptidase domain 21 pseudogene 1 14 14 14 q24.2 50776650 50778698 - 70712470 70714518 - 70245753 70247801 - 10524237;16520872 145241 ABBA01030818;AF158640;AL160191;AMYH02029442;DQ202398;NR_003951 ABA43715 Hs.712468 1699658 RH103433 ADAM21P a disintegrin and metalloproteinase domain 21 pseudogene APPROVED pseudo ENSG00000235812 HGNC:19822 VALIDATED 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 7 q21 82268261 82531056 + 87563566 87832204 + 87934251 88202889 + 1580863;6480464;8554872 10524237;11050470;12477932;12589811;12853948;14759258;15876356;15882968;16385342;16868027;16990550;17681454;17884303;18440780;18593599;18762889;19054571;20156119;20220021;20379614;21988832;22072566;23455922;23503679;23810013;24227725;9693107 53616 E7EPF1;E9PF78;F8WAD8;H7C0Q9;H7C3I4;Q08AL8;Q9P0K1 AB009671;ABBA01045860;ABBA01045861;ABBA01045862;ABBA01045863;AC004992;AC005075;AC005164;AF073291;AF155381;AF155382;AF158637;AF158642;AK125432;AK291010;AL133090;AMYH02016224;AMYH02016225;AMYH02016226;BC036029;BC062433;BC092465;BC125117;BC125118;CA429662;CH236949;CH471091;DR000609;NM_004194;NM_016351;NM_021721;NM_021722;NM_021723;XM_005250445;XM_006716028;XM_006716029 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;XP_005250502;XP_006716091;XP_006716092 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 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 HGNC:201 04751 603709 REVIEWED 1354292 ADAM26 a disintegrin and metalloproteinase domain 26 11087 HGNC:205 1346074 ADAM24P ADAM metallopeptidase domain 24, pseudogene INTERACTS WITH valproic acid (ortholog) 8 8 8 p22 16292793 16294947 + 17327027 17329181 + 17469518 17471672 + 6480464 10395895;23251661 646479 ABBA01021584;AC124074;AMYH02017533;AP006248;NG_022410 1705078;1719619 RH123714;SHGC-78062 ADAM24 APPROVED pseudo HGNC:203 INFERRED 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 + 175839509 175899331 + 174918358 174978180 + 1580863;6480464;8554872 10512762;10644455;12477932;15802535;16344560;19340428;21618342;23535729 11086 D6RBU0;D6RHU0;D6RIU9;Q9UKF5 ABBA01070397;AC105914;AF134708;AF171929;AF171930;AK292410;AMYH02010537;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;XM_005262704;XM_005262705 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;XP_005262761;XP_005262762 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 HGNC:207 05306 604778 REVIEWED 1344462 ADAM4 a disintegrin and metalloproteinase domain 4 8758 HGNC:211 1350597 ADAM3A ADAM metallopeptidase domain 3A (pseudogene) INTERACTS WITH 5-fluorouracil; zinc atom; zinc(0) 8 8 p11.23 39308564 39380508 - 39451045 39522989 - 6480464 11439107;12477932;16344560;20210993;21138945;9502432;9693117 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 HGNC:209 VALIDATED 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 8 p21.2 23115137 23176304 + 24151553 24212726 + 24294040 24355213 + 1580863;6480464;8554872 10506182;10587367;10794709;11724793;12477932;12667064;12777399;15013428;16052521;17047053;17597069;18690470;19054571;19527685;19896699;20112342;20450360;20544843;20881960;20971063;21077327;21329817;21698479;21782798;21913264;22636800;23010875;23527725;23640157;23643150;24007880;24613731;8125298 10863 B4DDY3;E5RGY1;E5RJQ1;H0YBG8;H0YBQ8;Q9UKQ2 ABBA01005549;AC044891;AC120193;AF137334;AF137335;AI475787;AI624552;AJ242015;AK225921;AK293382;AK303437;AMYH02017626;BC136478;BC144140;CH471080;NG_029394;NM_014265;NM_021777;XM_005273378;XM_005273379;XM_005273380;XM_005273381;XM_005273382;XM_006716273;XM_006716274;XM_006716275;XR_247120 AAD25099;AAD25100;AAI36479;BAG56894;BAG64485;CAB42085;EAW63608;EAW63609;NP_055080;NP_068547;Q9UKQ2;XP_005273435;XP_005273436;XP_005273437;XP_005273438;XP_005273439;XP_006716336;XP_006716337;XP_006716338 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 HGNC:206 08391 606188 REVIEWED 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 - 120436156 120439147 - 119893533 119896524 - 1580863;6480464;8554872 10512762;12477932;12975309;16710414;18372903;18591388;19862325;23128233 11085 Q8TBZ7;Q9UKF2 ABBA01068518;AF171932;AF171933;AK292483;AL359752;AMYH02001822;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 HGNC:208 05307 604779 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 results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013] 20 20 20 p13 3710486 3724619 - 3648620 3662755 - 3667973 3682131 - 1331525;1580863;4145379;4145380;4145383;4145361;4142862;4145382;4145358;4145359;4145360;4145357;4145378;6480464 15118671;15298558;16893396;17339047;17961406;18778489;19258923;19284602;19635592;19940503;20003279;20156753 11780052;11814695;12110844;12477932;12535637;12768445;12975309;14564349;14659745;14676211;14702039;14720258;14742294;15144468;15196271;15347848;15387895;15709049;15766253;15790980;15805180;15879414;15986064;16024651;16344560;16387804;16519819;16650044;16713569;16773130;16784537;16799089;16839403;17061022;17081983;17545039;17640346;17702965;17703412;17878941;18410963;18423563;18425216;18560587;18752037;18923449;19146844;19236319;19237393;19247692;19264973;19265133;19267929;19317339;19326508;19665773;19913121;19951440;19996348;20227692;20237496;20395963;20491578;20503287;20524005;20537279;20628086;20701904;20716621;21078624;21161400;21179102;21689380;21781516;21869474;21930123;22035178;22227561;22269827;22349453;22583515;22660217;22851202;22871616;22888638;22989201;23245479;23257708;23331525;23380143;23525950;23612257;23640557;23861802;23902466;24035932;24141861;24191661 80332 A2A2L3;Q9BZ11 AB055891;ABBA01053826;AF466287;AF466288;AF466289;AK092627;AK094070;AK095953;AK123015;AK126487;AK126498;AK226148;AK300429;AK304037;AL109804;AL117415;AL356755;AMYH02036599;AX082153;AY223850;AY223851;AY223852;AY223853;AY223854;AY223855;AY358314;BC062663;BC125112;BC125113;BX103461;CH471133;DB225158;DQ995342;NM_001282447;NM_025220;NM_153202;XM_005260843;XM_005260851;XM_006723632;XM_006723633;XM_006723634;XM_006723635;XM_006723636;XM_006723637;XM_006723638;XM_006723639;XM_006723640;XM_006723641;XM_006723642;XM_006723643;XM_006723644;XM_006723645 AAH62663;AAI25113;AAI25114;AAM80482;AAM80483;AAM80484;AAP15439;AAP15440;AAP15441;AAP15442;AAP15443;AAP15444;AAQ88680;ABI97387;BAB83092;BAC04660;BAG62155;BAG64948;CAC33154;EAX10519;EAX10520;EAX10521;EAX10522;EAX10523;EAX10524;EAX10525;EAX10526;NP_001269376;NP_079496;NP_694882;Q9BZ11;XP_005260900;XP_005260908;XP_006723695;XP_006723696;XP_006723697;XP_006723698;XP_006723699;XP_006723700;XP_006723701;XP_006723702;XP_006723703;XP_006723704;XP_006723705;XP_006723706;XP_006723707;XP_006723708 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 HGNC:15478 06173 607114 REVIEWED 1345583 ADAM32 ADAM metallopeptidase domain 32 ENCODES a protein that exhibits metalloendopeptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN proteolysis (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 8 8 8 p11.22 37916690 38094247 + 38965050 39142436 + 39107531 39284917 + 1580863;6480464 12477932;12568724;12975309;15340161;15489334;17081983;20379614 203102 E3W988;E5RGK7;E5RJE6;E5RJY7;E7EPX8;E7ER82;Q8TC27 AB209690;ABBA01015931;AC105091;AC105185;AC245594;AK122608;AK129810;AK131038;AK300148;AK313864;AMYH02017844;AY172952;AY358739;BC026085;BC026169;BC028702;BC030014;BC030698;BC034975;BI559590;CH471080;NM_145004;XM_006716298;XM_006716299;XM_006725117;XM_006725118;XR_430696 AAH26085;AAH26169;AAH28702;AAH30014;AAH30698;AAH34975;AAO45696;AAQ89099;ABM81836;ABM84987;BAC85238;BAC85489;BAD92927;BAG36592;BAG61934;EAW63282;NP_659441;Q8TC27;XP_006716361;XP_006716362;XP_006725180;XP_006725181 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 HGNC:15479 16475 VALIDATED 1352596 ADAM3B ADAM metallopeptidase domain 3B (pseudogene) 16 16 16 q12.1 34064812 34065518 - 49551557 49552263 - 49517646 49518352 - 11439107;9284909;9502432;9693117 1596 O00504 ABBA01000891;AC007861;AMYH02031998;NG_001526;NG_032972;Y10615 CAA71622 CYRN2 ADAM metallopeptidase domain 3B (cyritestin 2);a disintegrin and metalloproteinase domain 3b (cyritestin 2) APPROVED pseudo HGNC:210 INFERRED 1353792 ADAM5 ADAM metallopeptidase domain 5, pseudogene ENCODES a protein that exhibits metalloendopeptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN proteolysis (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); ammonium chloride (ortholog); cadmium dichloride (ortholog) 8 8 8 p11.22 38123987 38226669 + 39172182 39274745 + 39314663 39417226 + 632496;6480464 8786143 10417343;12477932;20210993;22797925 255926 Q6NVV9 ABBA01015925;ABBA01015926;ABBA01015927;ABBA01015928;ABBA01015929;ABBA01015930;ABBA01015931;AC105185;AC106011;AC245062;AC245594;AJ132820;AJ132821;AJ132822;AJ132823;AJ132824;AJ132825;AJ132826;AJ132827;BC026083;BC047448;BC057230;BC067864;NR_001448 Q6NVV9 Hs.369765 1705110;1758149 SHGC-147525;SHGC-79975 ADAM5P;TMDCII tmdc ii APPROVED pseudo ENSG00000196115 HGNC:212 PROVISIONAL 1351124 ADAM6 ADAM metallopeptidase domain 6, pseudogene INTERACTS WITH dibutyl phthalate (ortholog); valproic acid (ortholog) 14 14 14 q32.33 86366419 86368958 - 106435819 106438358 - 105969729 105972269 - 6480464 14702039;16162398;16344560;9841928 8755 AA609214;AB019441;ABBA01074086;AC246787;AI024595;AK093400;DB059945;NG_001019;NR_002224 BAG52709 Hs.662288 1686202 RH98683 C14orf96;tMDCIV a disintegrin and metalloproteinase domain 6 APPROVED pseudo ENSG00000271968 HGNC:213 VALIDATED 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 + 24298509 24370273 + 24440996 24512760 + 1580863;6480464;8554872 11514362;12037602;12477932;12514095;16344560;21618342;23218918 8756 C9JK28;E5RK87;Q9H2U9 ABBA01005549;AC024958;AC120193;AF090327;AF215824;AK292492;AMYH02017627;BC043207;BC058037;CH471080;DB077360;NM_003817;XM_005273668;XM_005273669;XM_005273670;XM_005273671;XM_005273672;XM_005273673 AAC36742;AAG43987;AAH43207;AAH58037;AAI41423;AAI48736;BAF85181;EAW63606;NP_003808;Q9H2U9;XP_005273725;XP_005273726;XP_005273727;XP_005273728;XP_005273729;XP_005273730 Hs.116147 1672379;5094817 D8S481;TTA024 ADAM 7;ADAM-7;EAPI;GP-83;GP83 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 HGNC: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 10 q26.3 128426024 128440474 + 135075920 135090489 - 133262416 133276903 - 1298587;1580863;2325243;2325244;5128874;4145380;5128878;5128872;6480464;8554872 17339047;17979891;19373511;19625177;20194813;9126482;9670863 10354553;12135759;12477932;12777399;15220135;15574124;15623614;16344560;16385451;17548643;18397961;18566576;18682798;18691140;18710625;18811590;19284887;19397475;19469654;19575316;19601829;19714641;19766586;20453887;20628624;21077325;21640993;21679521;21728902;21983884;22215309;22229154;22878099;22941466;22959284;22965687;23670189;24247244;24526468 101 H0YKZ1;H0YMT6;P78325;Q14C66 ABBA01006208;ABBA01006209;AK301147;AK304324;AK310662;AK312834;AL592071;AMYH02024089;AMYH02024090;BC064500;BC115404;BI908229;BM144968;BM146234;BQ007791;CH471211;CR997306;CS174020;D26579;DA936506;DB142906;DC401057;DC408787;KF455298;NM_001109;NM_001164489;NM_001164490;XM_005252655;XM_005252656 AAI15405;BAA05626;BAG35688;BAG62738;BAH14159;CAJ34536;EAW61325;EAW61326;NP_001100;NP_001157961;NP_001157962;P78325;XP_005252712;XP_005252713 Hs.501574 1675794;2216986 ADAM8_1412;RH80752 ADAM 8;CD156;CD156a;MGC134985;MS2 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 HGNC:215 03777 602267 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 + 24241798 24263526 + 24384285 24406013 + 1580863;6480464;8554872 11673514;12037602;12477932;14632642;15489334;16335952;18449420;19218196;23754285;9271581 27299 B7Z6V5;E5RK05;O15204 ABBA01005549;AC120193;AK300959;AK301007;AK311528;AK316320;AK316322;AMYH02017627;BC069582;BC074877;BC074878;CH471080;DC387711;NM_001145271;NM_001145272;NM_014479;XR_428306;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 HGNC:16299 07070 606393 VALIDATED 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 19 p13.2 8503796 8534269 - 8645124 8675588 - 8580240 8610753 - 1580863;6480464;7240710;8554872;8699517 11167130;11941487;12477932;14598350;15094112;15146197;15203218;15355968;15358598;15368195;18391951;18567016;19696795;19836009;20301293;20881960;21402694;21900206;23074332;23422823 81794 M0QY12;M0QY36;Q59FE5;Q6ZN14;Q9H324 AB209515;ABBA01010833;ABBA01010834;ABBA01010835;AC092315;AC130469;AC243312;AF163762;AK131414;AMYH02035445;BC029308;BF510205;BF588726;BI822988;BM928283;BX461830;CD632934;CD632956;CD632974;CH471139;CN431169;NG_011840;NM_001282352;NM_030957;XM_005272499;XM_005272500;XM_006722916;XM_006722917;XR_430156;XR_430157 AAG35563;BAD18561;BAD92752;EAW68907;EAW68908;NP_001269281;NP_112219;Q9H324;XP_005272556;XP_005272557;XP_006722979;XP_006722980 Hs.657508 1338823;1783824;2134345;2138135 D19S906;RH66060;SHGC-154249;STS-Z41090 ADAM-TS 10;ADAM-TS10;ADAMTS-10;WMS;WMS1 A disintegrin and metalloproteinase with thrombospondin motifs 10;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10;zinc metalloendopeptidase APPROVED protein-coding ENSG00000142303 HGNC:13201 07470 277600;608990 REVIEWED 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 9 q34 106830032 106875101 + 136279459 136324525 + 133414339 133459403 + 1598737;1580863;6480464;7240710;8554872;8699517 16689760 11167130;11230166;11535494;11535495;11557746;11574066;11586344;11586351;11843286;11867212;11920264;12038781;12084165;12091044;12091372;12130486;12172456;12181489;12195022;12223999;12393397;12393399;12393505;12395148;12477932;12576319;12614216;12615692;12640381;12753286;12775718;12791682;12855569;12869506;12871390;12871391;12923577;12975309;12975358;14512308;14512317;14525793;14563640;14644076;14727254;14727255;14727256;14727257;14727259;14727263;14962303;14976043;15009458;15009467;15126318;15164053;15175818;15182579;15249683;15327386;15388580;15521921;15583740;15692254;15710227;15711742;15774619;15774620;15809291;15824096;15842379;15855280;15865866;15886321;15890682;15975930;16102037;16113782;16141351;16160007;16189276;16203734;16221672;16286459;16322474;16335952;16344560;16391894;16449289;16453338;16468327;16597588;16634765;16755777;16794526;16796708;16807643;16894459;16899464;16953270;16990571;17003922;17030346;17053057;17087728;17121983;17229645;17294528;17296575;17395589;17725738;17764538;17768109;17849048;17901248;17922807;17928530;17988227;18031293;18166799;18175284;18194418;18223285;18240172;18263586;18327408;18332284;18433458;18443791;18449422;18492805;18492952;18502798;18521503;18581589;18609162;18665921;18725999;18756543;18801485;18833927;18835837;18940312;18981290;18983500;18988930;18996572;19027144;19041237;19047683;19054323;19055667;19069166;19109562;19116307;19162307;19190804;19190805;19190814;19234142;19253359;19260037;19270304;19389207;19422343;19422532;19427680;19439298;19492149;19506365;19541819;19574655;19584892;19587373;19644711;19654870;19682236;19718479;19729451;19765208;19765212;19809308;19812385;19822897;19847791;19880749;19897584;19944670;19996632;20032502;20054668;20058209;20062916;20075158;20141578;20201926;20307901;20390223;20553378;20605782;20624874;20647566;20664912;20682599;20695979;20704649;20705333;20734064;20923926;20946172;20958794;21077328;21103662;21136020;21196718;21238935;21275971;21350095;21385852;21479334;21488199;21512165;21535387;21573942;21605335;21606162;21676167;21705658;21712537;21715306;21720563;21732076;21779388;21781265;21799176;21843064;21896483;21901237;22070827;22075512;22110247;22163125;22168261;22192749;22205175;22289888;22289891;22298244;22314603;22324373;22370688;22398507;22431572;22466813;22529288;22529289;22627385;22627470;22672482;22685231;22703881;22707719;22768050;22781599;22783805;22854959;22915644;22922961;23020229;23041092;23058857;23073062;23141846;23144461;23225307;23233642;23266519;23267103;23346910;23411128;23415418;23433535;23443151;23446343;23481506;23494361;23523588;23524258;23554033;23621748;23636243;23648131;23677910;23682841;23683325;23715102;23729372;23733198;23847193;23878316;24106205;24186313;24250222;24338607;24351199;24357063;24386898;24401653;24406064;24433405;24449821;24550384;24558203;8639781;8639782 11093 B3KWF7;E7EV88;Q76LX8 AB069698;ABBA01032457;ABBA01032458;AF414400;AF414401;AJ011374;AJ305314;AJ420810;AJ420811;AK124983;AK292439;AL136809;AL158826;AL593848;AMYH02021830;AMYH02021831;AMYH02021832;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-TS 13;ADAM-TS13;ADAMTS-13;C9orf8;DKFZp434C2322;FLJ42993;MGC118899;MGC118900;TTP;VWFCP;vWF-CP A disintegrin and metalloproteinase with thrombospondin motifs 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 HGNC:1366 04994 274150;604134 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 8 p11.22 37806051 37914424 + 38854505 38962780 + 38996986 39105261 + 1580863;2317976;2325246;2325247;2325249;1559151;6480464;7240710;8554872;8699517 14997207;15688065;15950787;17465204;19473694 10527948;10531379;11162558;11581183;11831872;11882657;11955914;12054541;12135759;12477932;12484779;12535668;12767059;15205330;15280379;15361064;15856464;16311053;16336960;16806063;17018608;17081983;17342749;17704059;18061337;19003995;19237226;19253070;19394555;19409519;19505527;19543729;19564338;20388695;20422344;20672324;20736367;21135106;21139048;21906983;21956108;21963094;21987572;22064652;22480688;23000965;23106877;23342005;23405089;23429442;23437250;23499592;23857158;24457600;24770635;24823697;7584026;7584028;8647900;8809033;9016778;9857183;9920899 8754 A0AVL1;C9J6H5;C9JPM3;F8WC54;Q13443 ABBA01015931;ABBA01015932;ABBA01015933;AC105091;AC108863;AF495383;AK293257;AMYH02017843;AMYH02017844;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 ADAM 9;CORD9;KIAA0021;MCMP;MDC9;Mltng 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 HGNC:216 04091 602713;612775 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 5 q35 33408303 33780613 - 33523640 33892319 - 33527181 33892019 - 1580863;6480464;8554872 10737800;11167130;11279086;12477932;12975309;14702039;15489334;16611630;17081983;17895370;18485748;19098927;19151918;19638407;20379614;20400778;21494557;21559743;22247065;22322903;22505177;22990015;23019333 81792 D6REX0;P58397 ABBA01066753;ABBA01066754;ABBA01066755;ABBA01066756;ABBA01066757;ABBA01066758;ABBA01066759;ABBA01066760;AC008880;AC034232;AC091841;AC109491;AC139777;AJ250725;AK001058;AMYH02011142;AMYH02011143;AMYH02011144;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 HGNC:14605 05862 606184 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 21 q21.2 13391944 13401066 - 28208606 28217728 - 26836287 26845409 - 1580863;6480464 10094461;10373500;10438512;10718198;10785405;10811842;10830953;10930576;11278559;11831030;12054626;12054629;12477932;12716911;12907688;14702039;14760803;14996435;15184385;15599946;15661359;15878613;15967414;16061471;16314835;16328961;16495931;16641089;16675485;17167179;17560840;17897672;17975119;18076023;18174457;18192475;18775505;19007777;19010931;19023099;19027488;19349275;19404339;19608765;19615732;19915008;20103648;20484033;20546609;20655981;20795945;20840749;21037509;21345877;21890473;21937160;22383695;22562232;22735305;22776012;23001403;23289900;23443559;23681936;23859810;24631293;24646063;8995297;9593739 9510 E5RI60;E5RJR7;H7C206;Q8NE26;Q9UHI8 AB037767;ABBA01057223;AF060152;AF170084;AF207664;AK023795;AK129873;AK314475;AL162080;AMYH02037665;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 ADAM-TS 1;ADAM-TS1;ADAMTS-1;C3-C5;KIAA1346;METH-1;METH1 A disintegrin and metalloproteinase with thrombospondin motifs 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 HGNC:217 05530 605174 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 + 72432559 72522197 + 70672803 70762441 + 1580863;6771189;6771190;6480464;8554872 15913795;18790654 11741898;11779638;11867212;16385451;19851299;20378664;20379614;21254220;22205175;23491141;23728906 140766 Q8WXS8 ABBA01019633;ABBA01019634;ABBA01019635;AF358666;AF366351;AJ345098;AK128469;AL355344;AL358817;AMYH02023294;AMYH02023295;AMYH02023296;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 HGNC:14899 06329 607506 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 + 130318869 130346539 + 130448974 130476644 + 1580863;6480464;8554872 11867212;12477932;15489334;15599946;16152618;19458070;20590445;23233679;24024966 170689 Q8TE58 ABBA01023042;AJ315733;AK130067;AMYH02025789;AMYH02025790;AMYH02025791;AP002986;AP003459;BC109114;CH471065;NM_139055;XM_005271419;XM_006718773 AAI09115;CAC86014;EAW67786;EAW67787;NP_620686;Q8TE58;XP_005271476;XP_006718836 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 HGNC:16305 06330 607509 REVIEWED 8698736 ADAMTS19-AS1 ADAMTS19 antisense RNA 1 q23.3 16344560 103689846 AC106781;DA728271;NR_125748 Hs.628635 ncrna HGNC:40797 VALIDATED 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 - 77316025 77469011 - 77282128 77435114 - 1580863;6480464;8699517;7240710;8554872 11867212;12477932;14702039;15489334;16507336;17546048;18398821;19218546;19249006;19806480;19844255;20164292;20379614;21047771;21862674;22425255;23356391;23648065;23818446;8889548 170692 B4DEX3;H3BMG1;H3BTZ3;Q2VYF7;Q6ZN25;Q8TE60 ABBA01017034;ABBA01017035;ABBA01017036;AC009139;AC010548;AC025284;AF086229;AI792764;AJ311903;AK122677;AK131403;AK293831;AMYH02032426;AMYH02032427;AMYH02032428;AY172951;BC063283;BM684970;CH471114;NG_031879;NM_199355;XM_006721156;XM_006721157;XM_006721158 AAH63283;AAO45695;BAC85503;BAD18550;BAG57234;CAC83612;EAW95598;EAW95599;EAW95600;EAW95601;EAW95602;NP_955387;Q8TE60;XP_006721219;XP_006721220;XP_006721221 Hs.188746 1339054;1700678;1709484;1728075;1789184;2149700 D16S3097;D16S782;G63308;G65591;RH103962;SHGC-81796 ADAMTS21;KNO2;MMCAT 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 HGNC:17110 06333 607512;615458 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 - 100511643 100882183 - 99971438 100341978 - 1580863;6480464;7240710;8554872;8699517 11867212;14702039;16344560;18391951;19266077;19836009;20200978;20546612;20881960;21037509;21145461;21555518;22486325;23563607;23661674;23727862;24940034 170691 H0YMH1;H3BRA9;H3BV94;Q8TE56 AA884550;ABBA01020541;ABBA01020542;ABBA01020543;ABBA01020544;ABBA01020545;ABBA01020546;ABBA01020547;AC015723;AC022710;AC084855;AC113187;AJ315735;AK057331;AK057529;AK131344;AMYH02031156;AMYH02031157;AMYH02031158;CH471101;DB279404;DQ217943;KC877578;KF456126;NG_016287;NM_139057;XM_005254872 AAI52746;ABB70740;BAD18500;CAC86016;EAX02261;EAX02262;EAX02263;EAX02264;NP_620688;Q8TE56;XP_005254929 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 HGNC:17109 06332 607511;613195 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 5 qter 174165082 174399060 - 178537852 178772431 - 179110851 179345430 - 1598739;1580863;6480464;7240710;8699517;8554872 10417273 10094461;10464288;11076863;11167130;11741898;11788898;12477932;14730609;15146197;15373769;16046392;16344560;18624398;18937294;20574651;22205175;22589738;22990015;23867815;7735500 9509 O95450 ABBA01010012;ABBA01010013;ABBA01010014;ABBA01010015;ABBA01010016;ABBA01010017;AC008470;AC008544;AC010216;AC016557;AC034202;AC109479;AI417257;AJ003125;AK308213;AMYH02012871;AMYH02012872;AMYH02012873;BC098581;BU629258;BX479109;BX537606;CA445758;CH471165;CN305044;CO247372;DA928965;KF458071;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 HGNC:218 05173 225410;604539 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 + 128796103 129074376 + 129460410 129738683 + 1580863;6480464;8554872 11867212;19508998;22445761;23251661;23333304;24014609 171019 D6R9M2;H0Y8Y0;Q8TE59 ABBA01068850;ABBA01068851;ABBA01068852;ABBA01068853;AC008425;AC008528;AC008591;AC106781;AC129713;AI366752;AJ311904;AK122622;AK128729;AMYH02012175;AMYH02012176;AMYH02012177;AMYH02012178;AMYH02012179;AMYH02012180;AMYH02012181;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 HGNC: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 + 5140443 5320412 + 5140330 5320299 + 1580863;6480464;8554872 11867212;14702039;16507336;17519324;19423552;19635554;20379614;22562232;24039173 170690 Q2XQZ0;Q8TE57 AB095949;ABBA01016132;ABBA01016133;ABBA01016134;ABBA01016135;AC010269;AC022424;AC091978;AJ315734;AK122980;AK127746;AM983533;AMYH02010796;AMYH02010797;CH471102;DQ266047;FJ515844;KF457852;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 HGNC:17108 06331 607510 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 1 q21-q23 134226690 134235997 - 161159538 161168845 - 161189748 161199055 - 1580863;6480464;8554872 10094461;10356395;10438522;10464288;10751421;10801887;10827174;10986281;11167130;11254106;11278559;11796708;11801682;11831030;11854269;11956193;12202483;12477932;12646579;12975309;14561220;14662755;14701864;14715656;14744861;15161923;15489334;16003758;16099106;16188468;16344560;16677612;16710414;16723216;16741450;16771712;17009305;17095512;17208315;17265492;17295438;17311924;17430884;17470431;17606262;17978660;18039650;18042673;18050214;18156631;18221525;18387286;18660489;18671934;18718938;18941754;19054571;19322201;19342688;19643179;19944557;20625753;20664926;20857147;21139048;21334453;21345877;21664283;21946608;21988832;22065068;22324945;22562232;22670872;22735305;23082219;23137648;23295731;23319426;23438438;23859810;23897278;24051360;24126638;24474687;24786121;9734811 9507 O75173;Q5VTW1 AB014588;ABBA01016596;AF148213;AK291573;AL590714;AL603427;AMYH02002034;AY044847;AY358886;BC030812;BC063293;CH471121;DA098917;DQ364570;NM_005099;XM_006711635 AAD41494;AAH63293;AAL02262;AAQ89245;ABC88384;BAA31663;BAF84262;EAW52627;NP_005090;O75173;XP_006711698 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 HGNC:220 04853 603876 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 - 73146686 73434516 - 72280969 72568799 - 1580863;6480464;8554872 10094461;10464288;11167130;11408482;11741898;11812023;11831030;12477932;15708897;19199708;20881960;21546767;21822266;22205175;22286219;22916037;23259602;23333304;9205841 9508 B7Z2U9;O15072;Q96AY5 AB002364;ABBA01022980;ABBA01022981;ABBA01022982;ABBA01022983;AC093790;AC095056;AC104814;AF247668;AK295131;AMYH02009447;AMYH02009448;AMYH02009449;AMYH02009450;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 HGNC:219 06893 605011 REVIEWED 7404403 ADAMTS7P1 ADAMTS7 pseudogene 1 15 15 15 q25.2 59525644 59537165 + 82585621 82626915 + 82293283 82334561 + 390660 ABBA01060647;ABBA01060648;ABBA01060649;ABBA01200681;AC126339;AC139425;AC139687;AC243919;AK131095;NR_045529 BAC85145 Hs.640255 ADAMTS7P2 pseudo ENSG00000274376 HGNC:49407 VALIDATED 7406831 ADAMTS7P2 ADAMTS7 pseudogene 2 q25.2 400419 AC126339;NG_028865 pseudo HGNC:49408 INFERRED 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 - 43748012 43945724 - 43354209 43551921 - 6480464;8554872 12514189;12562771;14702039;20221248;22379998;23251661;24162737 80070 E9PBD5;G3V1X8;H0YHN3;P59510 ABBA01031413;ABBA01031414;ABBA01031415;ABBA01031416;AC090525;AC107018;AC120104;AF488804;AJ515153;AJ515154;AK023228;AMYH02026371;AMYH02026372;AMYH02026373;AMYH02026374;AMYH02026375;AMYH02026376;AMYH02026377;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 HGNC:17178 611681 REVIEWED 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 - 79051545 79103805 - 78759203 78811463 - 1580863;6480464;8554872 10464288;11167130;12477932;16585064;18485748;19098927;19487464;20718794;21239051;21378988;21378990;22247065;23415669;23561647;24262325 11173 Q9UFZ4;Q9UKP4 AB209497;ABBA01060594;ABBA01060595;AC022748;AF140675;AK299844;AL110226;AL359934;AMYH02030866;AY327122;BC061631;CB991707;CH471136;NG_011492;NM_014272;XM_005254137;XM_005254138 AAD56358;AAH61631;AAQ94616;BAD92734;BAG61706;CAB53684;CAB95770;EAW99148;EAW99149;EAW99150;EAW99151;NP_055087;Q9UKP4;XP_005254194;XP_005254195 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 HGNC:223 05422 605009 REVIEWED 7402203 ADAMTS7P3 ADAMTS7 pseudogene 3 15 15 15 q24.3 55203287 55221424 + 78268067 78285393 + 77976009 77993241 + 23354978 400406 ABBA01060577;ABBA01060578;AC104758;AMYH02030857;AMYH02030858;NG_028863 pseudo HGNC:49409 INFERRED 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 - 64444563 64777704 - 65148736 65481877 - 1580863;6480464;8554872 10464288;11167130;12477932;15123239;16129570;18579725;20379614;20889312;23212062;23291589;23727862;24457600;7566098;8401585 11174 Q5IR90;Q9UKP5 AA318687;AA333577;AA907572;AB209685;ABBA01048331;ABBA01048332;ABBA01048333;AC008847;AC008868;AC025176;AC025186;AC099505;AF140674;AK131039;AMYH02011423;AMYH02011424;AMYH02011425;AMYH02011426;AY692422;AY692423;AY692424;AY692425;AY692426;BC010563;BC020916;BC071654;BG117513;CR749356;KC876999;KC877000;KC877005;KF457912;KF457916;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 HGNC:222 05421 605008 REVIEWED 7407746 ADAMTS7P4 ADAMTS7 pseudogene 4 15 15 15 q25.3 62201222 62213751 - 85798821 85814090 - 85255390 85270854 - 642935 AC044860;AMYH02030963;NG_022116 pseudo HGNC:49410 INFERRED 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 21 q21.3 13473563 13522743 - 28290231 28339439 - 26917912 26967120 - 1580863;6480464;8554872 10438522;10464288;10830953;11032846;11167130;11231277;11801682;11831030;11854269;11956193;12392761;12477932;14702039;14715656;15489334;15599946;16003758;16133547;16507336;17067994;17211519;17265492;17265493;17430884;17978660;17991750;18029348;18042673;18156631;18240210;18478108;18671934;18830934;18976975;19643179;19684582;19834535;20237151;20494980;20568084;21345877;21370305;21437951;21546767;21828051;21906983;22493487;22562232;22707719;22735305;22796434;22961118;23064555;23082219;23131589;23491141;23859810;23963448;24312401;24415654;24474687;24786121;9688535 11096 Q9UNA0 ABBA01057223;ABBA01057224;AF086299;AF086358;AF141293;AF142099;AK094057;AK095905;AMYH02037665;AP001600;AP001601;AP001697;AP001698;BC093775;BC093777;CH471079;KC877843;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);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 HGNC:221 05420 605007 REVIEWED 5144623 ADAMTS9-AS1 ADAMTS9 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 p14.1 64547311 64576384 + 64561346 64590084 + 8554872 12477932;14702039;16344560 101929335 ABBA01024308;AC096888;AC122178;AK056845;AK125532;AMYH02006956;BC071789;DA222486;HG495741;HG495742;HG495743;NR_110150;NR_110151 Hs.476604 APPROVED ncrna ENSG00000241158 HGNC:40625 VALIDATED 5144444 ADAMTS9-AS2 ADAMTS9 antisense RNA 2 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH valproic acid 3 3 3 64687277 64977811 + 64670546 64997143 + 64684870 65011468 + 6480464;8554872 16344560;18372903;22005931;22589738;23218918;23455636;23754948;24833086 100507098 ABBA01024306;ABBA01024307;ABBA01024308;AC008583;AC121766;AC122178;AC132007;AC137671;AK057923;AL832788;AMYH02006956;AMYH02006957;AMYH02006958;AMYH02006959;BC040632;DA927615;KC876901;KC876902;KF510848;LK937712;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 ncrna ENSG00000241684 HGNC:42435 VALIDATED 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 - 130274660 130298539 - 130404923 130428952 - 1580863;6480464;8554872 10438512;10610729;12477932;14702039;15296936;15328519;16152618;16570050;17606262;20201926;24384427 11095 Q5FWF1;Q9UP79 AB209717;ABBA01023041;AF060153;AF175283;AK123706;AMYH02025788;AP002986;BC089435;BC113874;BC114624;BM988619;CH471065;NM_007037;XM_006718758 AAD48081;AAF25806;AAH89435;AAI13875;AAI14625;BAD92954;BAG53941;EAW67783;EAW67784;EAW67785;NP_008968;Q9UP79;XP_006718821 Hs.271605 1771492;1797266 ADAMTS8_2450;D11S1009 ADAM-TS 8;ADAM-TS8;ADAMTS-8;FLJ41712;METH-2;METH-8;METH2 A disintegrin and metalloproteinase with thrombospondin motifs 8;OTTHUMP00000230650;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8 APPROVED protein-coding ENSG00000134917 HGNC:224 05531 605175 REVIEWED 7287931 ADAMTSL4-AS1 ADAMTSL4 antisense RNA 1 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 1 1 1 q21.2 123648320 123650357 - 150532554 150534591 - 150560895 150574552 - 6480464 12477932 574406 Q5T5F5 ABBA01049348;AK127688;AL356356;AMYH02001854;BC132990;BC132992;BG231546;CD684057;NR_104133 AAI32993;BAC87085;Q5T5F5 Hs.516243;Hs.679334 C1orf138 ncrna ENSG00000203804 HGNC:32041 VALIDATED 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 3 p14.1 64518077 64690097 - 64501330 64673676 - 64515654 64688000 - 1580863;6480464;8554872 10718198;10936055;11167130;12477932;12514189;14702039;15599946;16507336;16537537;16799631;18372903;18449890;18567820;18591388;18694974;18714373;19020323;19020324;19052845;19139842;19247373;19324937;19502414;19602701;19670153;19720844;19741467;19794065;19833888;19862325;19875450;19933996;19963134;20075150;20093484;20161779;20203524;20379614;20490451;20551050;20568084;20712903;20734064;20816152;20879858;20889853;20927120;20935629;22005931;22419820;22562232;22589738;22907434;23161442;23175174;23218918;23455636;23754948;24124411 56999 C9JWI2;H0Y859;Q9P2N4 AB037733;ABBA01024308;ABBA01024309;AC096888;AC122178;AF261918;AF488803;AK124945;AK300357;AK303343;AK310571;AMYH02006956;BC026271;BC036770;BC130578;BC171764;BX482310;CD103111;CH471055;NM_182920;XM_005265329;XR_245151 AAF89106;AAI30579;AAI71764;AAO15765;BAA92550;BAG62098;BAG64406;EAW65434;EAW65435;NP_891550;Q9P2N4;XP_005265386 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 HGNC:13202 05662 605421 REVIEWED 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 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, Sep 2014] 1 1 1 q21.3 123637660 123649179 + 150521846 150533413 + 150549369 150560937 + 1580863;6480464;7240710;8554872;8699517 10737800;10842357;12477932;12706885;12975309;14702039;15489334;15498874;16189514;16335952;16364318;16710414;18029348;19060904;19200529;20141359;20564469;20702823;21051722;21988832;21989719;22268729;22338190;22736615;22871183;23088713;23426735;23585552;23846871;24722188;8889548 54507 B7ZMJ3;Q6UY14;Q9UFG7 ABBA01049348;AF217974;AF289612;AF370411;AI637480;AK023606;AK092509;AK293037;AL122085;AL356356;AL513944;AMYH02001854;AX883021;AY358122;BC027478;BC071852;BC094811;BC140800;BC144581;BG005397;BM148104;BM721520;BX282114;BX370116;BX647294;CB960863;CB988088;CH471121;CX164541;HY002139;NG_012172;NM_001288607;NM_001288608;NM_019032;NM_025008;XM_006711389;XM_006711390;XR_426786 AAG17217;AAH27478;AAH71852;AAH94811;AAI40801;AAI44582;AAI67841;AAL55796;AAQ15247;AAQ88489;BAB14619;BAF85726;CAB59258;CAE91811;EAW53542;EAW53543;NP_001275536;NP_001275537;NP_061905;NP_079284;Q6UY14;XP_006711452;XP_006711453 Hs.516243 5015881;5493267 GDB:335751;UniSTS:485529 ADAMTSL-4;ECTOL2;TSRC1 ADAMTS-like protein 4;OTTHUMP00000032789;OTTHUMP00000032790;thrombospondin repeat containing 1;thrombospondin repeat-containing protein 1 APPROVED protein-coding ENSG00000143382 HGNC:19706 08583;18237 225100;225200;610113 REVIEWED 1313018 ADAMTSL3 ADAMTS-like 3 ENCODES a protein that exhibits metallopeptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN proteinaceous extracellular matrix (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate; hydrogen peroxide 15 15 15 q25.2 59876379 60263640 - 84322838 84708594 + 83654086 84039842 + 6480464;8554872 10574462;12477932;12508121;14667842;14702039;17597111;18391950;18391951;18391952;19266077;19343178;20189936;20397748;20546612;20881960;21239144;21998595;23563607;9628581 57188 P82987 AB033059;ABBA01029443;ABBA01029444;ABBA01029445;ABBA01029446;ABBA01029447;ABBA01029448;ABBA01029449;ABBA01029450;ABBA01029451;ABBA01029452;ABBA01029453;ABBA01029454;AC027807;AC087738;AC116157;AF237652;AK092324;AK308845;AL109723;AL109724;AMYH02030939;AMYH02030940;AMYH02030941;AMYH02030942;AMYH02030943;AMYH02030944;AW029535;BC128389;BC128390;BE646238;CH471188;KF456109;NM_001301110;NM_207517;XM_005272435;XM_005272436;XM_005272437 AAI28390;AAI28391;AAK15041;BAA86547;EAW62418;NP_001288039;NP_997400;P82987;XP_005272492;XP_005272493;XP_005272494 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 HGNC:14633 12426 609199 VALIDATED 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 + 18474079 18910948 + 18474081 18910950 + 6480464;8554872 11805097;12477932;12975309;14667842;14702039;15164053;15203218;15489334;16344560;17395588;19671700;19824886;19913121;20379614;20628086;21897333;23251661;23459443;24529757;9628581 92949 A2A343;A6NIB9;F8WEP3;H7BYE3;Q6MZQ3;Q8N6G6 ABBA01065223;AF176313;AF251058;AI750970;AK092602;AK123028;AK128724;AK290667;AK291956;AL158150;AL353895;AL442638;AL449963;AL591423;AMYH02019247;AMYH02019248;AMYH02019249;AMYH02019250;AMYH02019251;AMYH02019252;AMYH02019253;AMYH02019254;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 ADAM-TS related protein 1;ADAMTS-like protein 1;OTTHUMP00000021085;OTTHUMP00000021086;OTTHUMP00000021088;OTTHUMP00000239538;PUNCTIN;punctin-1 APPROVED protein-coding ENSG00000178031 HGNC:14632 16462 609198 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 + 136397286 136440641 + 133532164 133575519 + 1580863;6480464;7240710;8554872;8699517 12477932;14667842;15489334;17509843;18677313;20301776;21415077;21988832;24014090;9628581 9719 B1B0D4;Q86TH1 AB011177;ABBA01032454;ABBA01032455;AI571260;AK127107;AK293498;AMYH02021833;AMYH02021834;BC050544;BX324209;BX629352;BX649571;CH471090;NG_009931;NM_001145320;NM_014694;XM_005272237;XM_005272238;XM_005272239;XM_006717336;XM_006717337 AAH50544;BAA25531;BAG54437;BAG56984;EAW88095;EAW88096;EAW88097;NP_001138792;NP_055509;Q86TH1;XP_005272294;XP_005272295;XP_005272296;XP_006717399;XP_006717400 Hs.522543 1337168;5037552 D8S2279;D9S1793 FLJ45164;GPHYSD1;KIAA0605 ADAMTS-like protein 2;ADAMTSL-2;OTTHUMP00000162492;OTTHUMP00000162493 APPROVED protein-coding ENSG00000197859 HGNC:14631 11096 231050;612277 REVIEWED 1313735 ADAMTSL5 ADAMTS-like 5 ENCODES a protein that exhibits heparin binding; INVOLVED IN proteolysis (inferred); FOUND IN extracellular matrix; extracellular region; microfibril; INTERACTS WITH 17beta-estradiol; 2,2',4,4',5,5'-hexachlorobiphenyl; 3,3',4,4',5-pentachlorobiphenyl 19 19 19 p13.3 1439031 1447215 - 1505017 1513188 - 1505018 1513189 - 6480464 12477932;14702039;15489334;17113583;19322201;19851296;20198315;23010571 339366 A4QPG6;K7ELV0;Q0VD77;Q6ZMM2;X6R4H8 ABBA01002650;AC027307;AK131571;AK302020;AMYH02035153;BC040620;BC119796;BC139833;CH471139;DR979736;NM_213604;XM_005259549;XM_006722737;XM_006722738;XM_006722739;XM_006722740 AAH40620;AAI19797;AAI39834;BAD18703;BAG63419;EAW69486;EAW69487;EAW69488;EAW69489;EAW69490;NP_998769;Q6ZMM2;XP_005259606;XP_006722800;XP_006722801;XP_006722802;XP_006722803 Hs.371674 2124815 RH66645 THSD6 ADAMTS-like protein 5;ADAMTSL-5;thrombospondin type-1 domain-containing protein 6;thrombospondin, type I, domain containing 6 protein-coding ENSG00000185761 HGNC:27912 15504 VALIDATED 733651 ADAP1 ArfGAP with dual PH domains 1 ENCODES a protein that exhibits ARF GTPase activator activity; INVOLVED IN positive regulation of GTPase activity; regulation of GTPase activity; PARTICIPATES IN phosphatidylinositol 3-kinase class I signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; nucleus; plasma membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid; diarsenic trioxide 7 7 7 p22.3 906136 962035 - 937537 995208 - 897900 955407 - 1580863;6480464;6484113;8554872 10333475;10448098;11278595;11869802;12018390;12062430;12477932;12499840;12565890;12761501;12893243;14625293;14690521;14702039;15003508;15106847;15489334;15679100;15778454;16169070;16176273;16287813;16341594;16341674;16344560;16805830;18029348;18298663;19423540;20406964;20438785;21057110;21801775;21900206;21906983;21972134 11033 A8K3A2;B4DUZ7;C9JN36;H0Y7Q1;H7BZT6;H7C264;H7C324;H7C4B3;O75689 AB097049;ABBA01039307;ABBA01039308;ABBA01039309;ABBA01039310;ABBA01039311;ABBA01039312;ABBA01039313;AC073957;AF082324;AI910700;AJ006422;AK092471;AK124979;AK290517;AK300644;AK300859;AK300999;AMYH02015036;AMYH02015037;BC033747;BG716328;BM837987;CH236965;CH471144;CR975507;DA872042;KF511054;NM_001284308;NM_001284309;NM_001284310;NM_001284311;NM_006869 AAD11414;AAH33747;BAC77402;BAF83206;BAG52556;BAG54118;BAG62332;BAG62509;BAG62618;CAA07024;EAL23709;EAW87182;EAW87183;EAW87184;NP_001271237;NP_001271238;NP_001271239;NP_001271240;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;cnt-a1;p42IP4 OTTHUMP00000024998;OTTHUMP00000200049;arf-GAP with dual PH domain-containing protein 1;centaurin, alpha 1;centaurin-alpha;centaurin-alpha-1;putative MAPK-activating protein PM25 protein-coding ENSG00000105963 HGNC:16486 09733 608114 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 21 q22.3 31601137 31754043 + 46494493 46646478 + 45074578 45226563 + 1300255;1580863;6480464;8554872 10894545 10830953;10899322;11278278;11717408;11907222;12163487;12414985;12459255;12477932;12859334;14612560;14759252;14759258;15302935;15383678;16141067;16297572;16733555;16961545;17071493;17525170;17728516;17903307;18178553;19156129;19156214;19642681;19713932;20011587;20215858;20372915;20379614;21139048;21289159;21622951;21832049;21847096;22226999;22366356;22414730;22525274;23621630;24386085;24443933;24457600;24778252;8559253;8889548;8995285;9103436;9111310;9113993;9143496;9149227;9330641;9330696 104 P78563;Q4AE77;Q4AE81 AB194369;AB194370;AB194371;AB194372;AB194373;ABBA01074185;ABBA01074186;ABBA01074187;AF001042;AF525422;AF533142;AL133499;AL163301;AMYH02037926;AMYH02037927;AMYH02037928;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;XM_006723953;XM_006723954;XM_006723955;XM_006723956;XM_006723957;XM_006723958;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;XP_006724016;XP_006724017;XP_006724018;XP_006724019;XP_006724020;XP_006724021 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);double-stranded RNA-specific editase 1;dsRNA adenosine deaminase;dsRNA adenosine deaminase DRADA2;human dsRNA adenosine deaminase DRADA2 APPROVED protein-coding ENSG00000197381 HGNC:226 06777 601218 VALIDATED 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 - 75622718 75657221 - 75598349 75623323 - 6480464;8554872 10430867;12477932;14702039;19322201;19844255;21890473;21906983;21963094;23000965 23536 H3BNT8;H3BP18;H3BP27;H3BSM1;H3BU72;H3BV89;Q9BUB4 ABBA01017057;AC025287;AF125188;AK001687;AK296834;AK314652;AMYH02032404;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 HGNC:228 11970 604230 REVIEWED 734306 ADAP2 ArfGAP with dual PH domains 2 ENCODES a protein that exhibits inositol 1,3,4,5 tetrakisphosphate binding; phosphatidylinositol-3,4,5-trisphosphate binding; phosphatidylinositol-3,4-bisphosphate binding (ortholog); INVOLVED IN heart development; FOUND IN cytoplasm; plasma membrane; mitochondrial envelope (ortholog); INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; pirinixic acid 17 17 17 q11.2 26169680 26207134 + 29248698 29286340 + 30921736 30959193 + 1580863;6480464 10843809;12018390;12477932;14690521;15489334;16138909;16169070;17207965;17632510;18298663;18391951;18482256;18541383;19266077;19291764;19953087;20098747;20379614;20546612;21832049;23285209;8125298 55803 J3KST1;J3KT70;J3QLP8;J3QRA6;J3QRD3;K7ENT1;Q2V6Q1;Q9NPF8 ABBA01014977;AC138207;AJ238994;AJ242782;AJ272195;AK074196;AK074204;AK222526;AMYH02033287;AMYH02033288;BC033758;CH471147;DQ288859;NM_018404;XM_005258008;XM_005258011;XM_006721973 AAH33758;ABB90599;ADQ32352;BAD96246;CAB77266;CAB88383;CAC40651;EAW80287;EAW80288;EAW80289;NP_060874;Q9NPF8;XP_005258065;XP_005258068;XP_006722036 Hs.514063 1655147;1674966;1852359 RH35914;SHGC-34232;SHGC-35088 CENTA2;HSA272195;cent-b;cnt-a2 OTTHUMP00000163768;arf-GAP with dual PH domain-containing protein 2;centaurin beta;centaurin, alpha 2;centaurin-alpha 2 protein;centaurin-alpha-2 protein-coding ENSG00000184060 HGNC:16487 16357 608635 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 1 q21.3 127626167 127672093 - 154554533 154600456 - 154582057 154627999 - 1559268;1300254;6480464;6907045;7240710;8554872;8699517 11099415;12916015 10200312;10364558;10535945;10899322;11278278;11421361;11451992;11593027;11604520;11752786;11907222;12243919;12396729;12414985;12429827;12447867;12453429;12477932;12618436;12665561;12702817;12954622;14702039;14711814;15102079;15146470;15342791;15489334;15556947;15635413;15659327;15723802;15724015;15858013;15955093;16055709;16120648;16133458;16344560;16475990;16886895;16917490;16964243;17020943;17021765;17033168;17079286;17081983;17225010;17478391;17569068;17680540;17698644;18029348;18178553;18243666;18362360;18422172;18627385;18705826;18753201;18799292;18835380;19124606;19322201;19434718;19454010;19471022;19559055;19596686;19605474;19637911;19651874;19667218;19710021;19713932;19733181;19913273;19946888;20020773;20069304;20186421;20300939;20301334;20301648;20379614;20430589;20439151;20586835;20588308;20590675;20708476;20802353;20805743;20844743;20875819;20931541;21081666;21083709;21139048;21145461;21159878;21217697;21252943;21269755;21301145;21316340;21490091;21587236;21890473;21906983;21924887;21933234;21963094;21988832;22022963;22039911;22077581;22104209;22174317;22268729;22278222;22336994;22446626;22505724;22751105;22821605;22833565;22843049;22885375;22939629;22974014;22993189;23000965;23001123;23075647;23079620;23115276;23125841;23166591;23275297;23315877;23336285;23474544;23535732;23728176;23752268;23766440;23853584;24065641;24067935;24183664;24256817;24262145;24302582;24332808;24457600;24501781;24591637;24654937;24753571;24778252;24813121;24816145;24950769;25010446;25027693;3175763;7490742;7565688;7618288;7862132;7972084;8586444;9020165;9103436;9237992;9330696;9735305 103 H0YCK3;P55265 AA449679;AB209891;ABBA01049490;ABBA01049491;AF084516;AK097241;AK304153;AL592078;AL606500;AL691488;AMYH02001927;AMYH02001928;AMYH02001929;AMYH02001930;BC017853;BC038227;BE886208;BU430287;BX538232;BX640741;CD108625;CH471121;CR982397;DA507408;DR158819;EF190448;EF190449;EF190450;EF190451;EF190452;EF190453;KJ544856;NG_011844;NM_001025107;NM_001111;NM_001193495;NM_015840;NM_015841;U10439;U18121;U75503;X79448;X79449;X98559;X98563;XM_006711109;XM_006711110;XM_006711111;XM_006711112;XM_006711113 AAB06697;AAB97116;AAB97117;AAB97118;AAC13782;AAH38227;ABM73519;ABM73520;ABW03600;ABW03910;AHZ44503;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;XP_006711172;XP_006711173;XP_006711174;XP_006711175;XP_006711176 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;DSH;DSRAD;G1P1;IFI-4;IFI4;K88dsRBP;P136 136 kDa double-stranded RNA binding protein;136 kDa double-stranded RNA-binding protein;DRADA;OTTHUMP00000035372;OTTHUMP00000035373;OTTHUMP00000231779;RNA-specific adenosine deaminase;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 HGNC:225 07528 127400;146920;615010 REVIEWED 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 - 1223253 1779670 - 1177313 1737476 - 1580863;6480464;8554872 10836796;10899322;11278278;12477932;14702039;15164054;15635413;16344560;16385451;17000644;18029348;19197348;20011587;20379614;20709820;20923822;22210125;23400010;23793025;24324551;24778252;25015289;8889549;9103436;9272162;9330696 105 Q5VW42;Q5VW43;Q9NS39 ABBA01035244;ABBA01035245;ABBA01035246;ABBA01035247;ABBA01035248;ABBA01035249;ABBA01035250;ABBA01035251;ABBA01035252;ABBA01035253;ABBA01035254;ABBA01035255;ABBA01035256;ABBA01035257;ABBA01035258;AC026224;AC226387;AF034837;AI695657;AK055107;AK057763;AK094294;AK123334;AK289895;AK307451;AK308579;AL392083;AL442069;AL450386;AL513304;AMYH02021986;AMYH02021987;AMYH02021988;AMYH02021989;AMYH02021990;AMYH02021991;BC047443;BC137477;BC139725;BC140852;CH471072;DA533361;KF511093;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 ENSG00000185736 HGNC:227 09070 602065 REVIEWED 1347708 ADARB2-AS1 ADARB2 antisense RNA 1 10 10 10 p15.3 1515577 1545999 + 1568825 1599179 + 1526630 1556984 + 11181995;16344560 642394 A8MUL3 ABBA01035246;AF086274;AL450386;AMYH02021990;CH471072;DA335457;NR_033387 A8MUL3;EAW86509;EAW86510;EAW86511 Hs.568831 C10orf109;NCRNA00168;bA466B20.1 APPROVED ncrna ENSG00000205696 HGNC:23299 PREDICTED 1603369 ADAT3 adenosine deaminase, tRNA-specific 3 ENCODES a protein that exhibits hydrolase activity (inferred); zinc ion binding (inferred); INVOLVED IN tRNA processing (inferred); ASSOCIATED WITH Autosomal recessive inheritance (inferred); Esotropia (inferred); Failure to thrive (inferred); INTERACTS WITH copper(2+) sulfate; disodium selenite; methotrexate 19 19 19 p13.3 1839500 1847520 + 1905371 1913446 + 1905372 1913447 + 6480464;8699517;7240710;8554872 12457566;12477932;20946988;21988832;23620220;24250222 113179 C9JFC1;D6W601;Q96EY9 ABBA01002692;AC012615;AMYH02035174;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 HGNC:25151 14000 615286;615302 VALIDATED 1320091 ADAT2 adenosine deaminase, tRNA-specific 2 ENCODES a protein that exhibits tRNA-specific adenosine deaminase activity (inferred); zinc ion binding (inferred); INVOLVED IN tRNA wobble adenosine to inosine editing (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; cobalt dichloride 6 6 6 q24.2 144484388 144512268 - 143743969 143771841 - 143422832 143450704 - 6480464 11181995;12457566;12477932;16344560;20581866;21832049;24816145;8889548 134637 Q7Z6V4;Q7Z6V5 ABBA01025748;AK126201;AL031320;AMYH02014634;BC037955;BM680217;BX538182;CH471051;DA100320;NM_001286259;NM_182503 AAH37955;ACE86534;ACE87213;BAG54295;CAD98054;EAW47867;EAW47868;NP_001273188;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 ENSG00000189007 HGNC:21172 615388 VALIDATED 1317936 ADCK1 aarF domain containing kinase 1 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); transferase activity, transferring phosphorus-containing groups (inferred); INVOLVED IN metabolic process (inferred); protein phosphorylation (inferred); FOUND IN extracellular region (inferred); mitochondrion (inferred); INTERACTS WITH hydrogen peroxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 14 14 14 q24.3 58304590 58438453 + 78266426 78400297 + 77800083 77933954 + 1580863;6480464 12471243;12477932;14702039;15203218;15489334;16169070;20877624;21988832 57143 F8W9Q8;G3V3J2;G3V426;Q86TW2 ABBA01030641;ABBA01030642;ABBA01030643;AC008372;AI866496;AK096919;AK126928;AK299430;AMYH02029580;AMYH02029581;AMYH02029582;AMYH02029583;BC017459;BC058906;BX248292;CD630155;CH471061;DN996748;NM_001142545;NM_020421;XM_005267885;XM_005267886 AAF23326;AAH58906;BAG53397;BAG61409;CAD62620;EAW81309;EAW81310;NP_001136017;NP_065154;Q86TW2;XP_005267942;XP_005267943 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;uncharacterized aarF domain-containing protein kinase 1 protein-coding ENSG00000063761 HGNC:19038 10630 VALIDATED 1350082 ADCP1 adenosine deaminase complexing protein 1 279003 106 HGNC:229 1313570 ADCK5 aarF domain containing kinase 5 ENCODES a protein that exhibits protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); mitochondrion (inferred); INTERACTS WITH hydrogen peroxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); dibutyl phthalate (ortholog) 8 8 8 q24.3 141773087 141792916 + 145597704 145618457 + 144374015 144393242 + 6480464;8554872 12477932;14702039;15489334;16421571;20467438;20877624;21988832;24250222 203054 E9PJ20;E9PLF3;Q3MIX3;R4GN53 ABBA01005207;ABBA01005208;ABBA01005209;AC233992;AF205589;AK092773;AMYH02019004;BC031570;BC032402;BC064345;BC085013;BC101659;BC143322;BC143326;BI825038;BM146288;BU845476;CH471162;HY037845;NM_174922;XM_006716526;XM_006716527 AAH31570;AAH64345;AAH85013;AAI01660;ADZ15774;BAG52608;EAW82111;EAW82112;EAW82113;EAW82114;NP_777582;Q3MIX3;XP_006716589;XP_006716590 Hs.283374 1701588 RH104428 FLJ35454;MGC126708 OTTHUMP00000228830;uncharacterized aarF domain-containing protein kinase 5 protein-coding ENSG00000173137 HGNC:21738 12427 VALIDATED 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 + 227084589 227175246 + 226897720 226987545 + 1580863;6480464;7240710;8554872;8699517 11888884;12477932;14702039;15489334;15498874;16189514;16344560;16710414;18319072;18319074;20186120;20301317;20877624;21139048;21296186;21890473;21903422;22036850;23383273;24250222 56997 Q5T7A2;Q8NI60 AB073905;ABBA01009622;ABBA01009623;ABBA01009624;ABBA01009625;AF218003;AI888739;AJ278126;AK074693;AK090494;AK092784;AK126200;AK293571;AK297735;AK300537;AK301012;AL137511;AL353689;AL391628;AMYH02002821;AMYH02002822;BC005171;BC129930;BX648860;CH471098;DA925261;NG_012825;NM_020247;XM_005273201;XM_005273202;XM_005273203 AAG17245;AAH05171;AAI29931;BAB91363;BAC11143;BAG52171;BAG57042;BAG60085;BAG62245;BAG62629;CAC00482;CAH56132;EAW69801;EAW69802;EAW69803;EAW69804;EAW69805;NP_064632;Q8NI60;XP_005273258;XP_005273259;XP_005273260 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 HGNC:16812 07375 606980;612016 REVIEWED 1322312 ADCK2 aarF domain containing kinase 2 ENCODES a protein that exhibits ATP binding (inferred); protein kinase activity (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN metabolic process (inferred); protein phosphorylation (inferred); FOUND IN integral component of membrane (inferred); mitochondrion (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; cisplatin 7 7 7 q34 135095002 135116957 + 140372730 140395745 + 140672930 140695111 + 6480464 12477932;12690205;12853948;15324660;15489334;20877624;22118674;8619474;9110174 90956 A4D1T6;C9JE15;H7C4I2;H7C5M5;Q7Z695 ABBA01034085;AC006344;AC006452;AF131745;AMYH02016908;AMYH02016909;AY302592;BC014107;CH236950;CH471070;NM_052853;XM_006716170 AAD43192;AAH14107;AAP60021;EAL24025;EAW83956;EAW83957;NP_443085;Q7Z695;XP_006716233 Hs.744886 1652244;2135183 D4S3183;D7S2105E AARF;MGC20727 OTTHUMP00000212102;OTTHUMP00000212103;OTTHUMP00000212104;OTTHUMP00000212105;putative ubiquinone biosynthesis protein AarF;uncharacterized aarF domain-containing protein kinase 2 protein-coding ENSG00000133597 HGNC:19039 10631 VALIDATED 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 - 41197434 41222790 - 40691529 40716885 - 1580863;6480464;8699517;7240710;8554872 12107410;12477932;14702039;15489334;16344560;20877624;21890473;22081228;23000965;23088713;24270420;8619474;9110174 79934 M0QZZ2;M0R001;M0R011;M0R0F4;M0R0L2;M0R2F4;M0R307;M0R340;M0R362;M0R3F7;Q96D53 ABBA01040785;ABBA01040786;AC010412;AF052122;AK022291;AK057199;AMYH02036123;AU121879;BC013114;BC013884;BC027473;CA397752;CH471126;NG_027800;NM_001142555;NM_024876;XM_005259270;XM_005259271;XM_005259272;XM_005259273;XM_005259274;XM_006723392;XM_006723393;XM_006723394 AAH13114;AAH27473;ABM82617;ABM85800;BAB14004;EAW56987;EAW56988;EAW56989;EAW56990;EAW56991;NP_001136027;NP_079152;Q96D53;XP_005259327;XP_005259328;XP_005259329;XP_005259330;XP_005259331;XP_006723455;XP_006723456;XP_006723457 Hs.130712 1681620;1700548;1778582;1779706 G34996;RH103895;RH75304;SHGC-153683 FLJ12229;NPHS9 aarF domain-containing protein kinase 4;uncharacterized aarF domain-containing protein kinase 4 APPROVED protein-coding ENSG00000123815 HGNC:19041 10632 615567;615573 REVIEWED 2303886 ADCY10P1 adenylate cyclase 10 (soluble) pseudogene 1 INTERACTS WITH valproic acid 6 6 6 p21.1 42621455 42661263 + 41068773 41108573 + 41101034 41140835 + 6480464 12477932 221442 ABBA01050760;AI243114;AK126092;AK128294;AL031778;AL133404;AL833650;AMYH02013601;AMYH02013602;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 HGNC:44143 17323 VALIDATED 737484 ADCY10 adenylate cyclase 10 (soluble) The protein encoded by this gene belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbonate. Variation at this gene has been observed in patients with absorptive hypercalciuria. Alternatively spliced transcript variants encoding different isoforms have been observed. There is a pseudogene of this gene on chromosome 6. [provided by RefSeq, Jul 2014] 1 1 1 q24 140887888 140992712 - 167778357 167883608 - 167809120 167914369 - 2312469;6480464;6907045;8554872 18948702 10446129;10566627;10737962;10915626;11423534;11875252;11932268;12475901;12477932;12609998;12958208;14993377;15342355;15659711;16054031;16344560;17591988;18209474;19064610;19093065;19536175;20130594;20379614;21994938;22775536;23255611;24091307;24100033;24420537;24567411;24792377;9694905;9874775 55811 Q96PN6;U3KPS9;V9GY51 ABBA01047239;ABBA01047240;ABBA01047241;AF176813;AF271058;AF299350;AF331033;AK302884;AK310395;AK310531;AL035122;AMYH02002094;AMYH02002095;BC117366;BC117372;CH471067;DB063660;KF454902;KF455054;KF510196;NG_016139;NM_001167749;NM_001297772;NM_018417;XM_005245329;XM_005245330;XM_006711449;Z97876;Z99943 AAF65931;AAF74296;AAI17367;AAI17373;AAK96045;AAL57036;BAG64062;CAA22684;EAW90804;EAW90805;EAW90806;EAW90807;NP_001161221;NP_001284701;NP_060887;Q96PN6;XP_005245386;XP_005245387;XP_006711512 Hs.320892 1336589;1774711;2138878;7186020 AL009926;D1S431;SHGC-75875 HCA2;RP1-313L4.2;SAC;SACI;Sacy;hsAC 3',5'-cyclic AMP synthetase;AH-related protein;ATP pyrophosphate-lyase;OTTHUMP00000032525;OTTHUMP00000032526;adenylate cyclase type 10;germ cell soluble adenylyl cyclase;testicular soluble adenylyl cyclase;testicular soluble adenylyl cyclase (SAC) APPROVED protein-coding ENSG00000143199 HGNC:21285 05549 605205 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 5 p15.3 7439102 7871262 + 7396343 7830194 + 7396230 7830081 + 1298711;1580863;1300048;2312469;6480464;6484113;6907045;8554872 1427768;18948702 10089566;10470851;10807185;10808179;11299302;11549699;11884542;12477932;12503609;12626323;14702039;14993377;15489334;16344560;18519826;19156168;20379614;20664520;21228062;21528083;2165385;21890473;22461431;22505724;22589738;22864933;23504261;23889134;24376456;7937899;7959689;8619474;8663304;8692867;9110174;9268375;9417641 108 D6REB8;H0YA58;Q08462;Q71UM8 AB028983;ABBA01016160;ABBA01016161;ABBA01020576;AC010346;AC010437;AC024577;AC093305;AC113366;AF070583;AF410885;AK123013;AK127036;AK294555;AK295531;AK299775;AK304041;AK307474;AMYH02010816;AMYH02010817;AMYH02010818;AMYH02010819;AMYH02010820;AMYH02010821;AMYH02010822;AMYH02010823;BC111743;BE677757;BK000372;CH471102;CR749634;CS072119;DB029098;DB481853;KF457856;L21993;NM_020546;X74210;XR_427657 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 HGNC:233 00052 103071 REVIEWED 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 7 p13-p12 45713145 45861628 + 45614125 45762715 + 45574140 45723116 + 1580863;2312469;6480464;6484113;6907045;7240710;8554872;8699517 18948702 10089566;10807185;10808179;11299302;11549699;11884542;12477932;12503609;12626323;12690205;12743114;12853948;14702039;14993377;15133516;15361543;16531006;17586501;19029295;19056867;19058789;19156168;19460752;19726641;19834535;20554763;2121366;2165385;23504261;7937899;7959689;8314585;8476432;8663304;8692867;9417641 107 C9J1J0;Q08828;Q59FG4;Q8NFM5 AB209496;ABBA01058250;AC069008;AC091439;AF086306;AF497515;AK024415;AK055343;AK095518;AK095665;AL707720;AMYH02015640;AMYH02015641;AMYH02015642;AMYH02015643;AW956248;AX753107;BC036858;BC041473;BU181704;CH236960;CH471128;L05500;NG_034198;NM_001281768;NM_021116;XM_005249584;XM_005249585 AAA02907;AAM94372;AAS07467;BAD92733;CAD99233;EAL23741;EAW61042;EAW61043;EAW61044;EAW61045;EAW61046;EAW61047;NP_001268697;NP_066939;Q08828;XP_005249641;XP_005249642 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;DFNB44 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 HGNC:232 00053 103072;610154 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 12 q12-q13 47955885 47978715 - 49159975 49182820 - 48766192 48789037 - 1580863;1300048;2312469;2312654;2313211;2315006;2315004;2312656;6480464;6484113;6907045;8554872 10894801;15579502;17010343;18431594;18948702;18971210 10089566;10481931;10807185;10808179;10978539;11162902;11299302;11549699;11884542;12168954;12477932;12503609;12626323;12748066;12782409;14871025;14993377;15302935;15470083;15489334;16631311;16713569;16885208;16973443;17007567;17081159;17110384;17916776;18403039;18936250;19007881;19546162;20732959;20861226;21139048;21228062;2165385;21890473;7937899;7959689;8034296;8125298;8663304;9228084;9388262;9417641;9455477;9920805 112 F8VZJ5;O43306 AB007882;ABBA01031485;ABBA01031486;ABBA01031487;AC117498;AF250226;AF250227;AK225224;AK294446;AMYH02026426;AMYH02026427;BC064923;BF511227;BX537664;CH471111;NM_015270;NM_020983;U65474;XM_005268605;XM_006719209;XM_006719210;XM_006719211;XM_006719212;XM_006719213 AAD00122;AAF82478;AAF82479;BAA24852;BAG57685;EAW58001;EAW58002;NP_056085;NP_066193;O43306;XP_005268662;XP_006719272;XP_006719273;XP_006719274;XP_006719275;XP_006719276 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 HGNC:237 02621 600294 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 3 q21.1 121410492 121574947 - 123001143 123167924 - 123282296 123449077 - 1300048;2315006;2312469;2315004;6480464;6484113;6907045;8699517;7240710 10894801;17010343;18948702 10089566;10481931;10807185;10808179;11299302;11549699;11590159;11884542;12503609;12604604;14702039;14993377;16641997;16973443;17110384;19783621;20081857;20081858;20231277;20372150;20419449;20484983;20490451;20571754;20889853;21115086;21307140;21712988;21789219;21887289;21890473;21949744;22250198;22505724;22581228;22693455;22956255;23202124;23251661;23278386;23841650;24700542;7759492;8034296;8206971;8663304;9268375;9275169;9748257 111 B3KWA8;B7Z2C7;C9JQ38;C9JRT8;F8WBM0;O95622 ABBA01016458;ABBA01016459;ABBA01016460;ABBA01016461;AC025571;AC112503;AF497517;AK093840;AK098381;AK124691;AK294565;AK302711;AK303070;AK316488;AMYH02007550;AMYH02007551;AMYH02007552;AMYH02007553;AMYH02007554;BK000371;BX647739;CH471052;NG_033882;NM_001199642;NM_183357;U65473;XM_005247077;XM_005247078;XM_006713483;XM_006713484 AAD00121;AAI56218;AAM94374;BAG52770;BAG54070;BAH11813;BAH13787;BAH13892;BAH14859;DAA00057;EAW79450;NP_001186571;NP_899200;O95622;XP_005247134;XP_005247135;XP_006713546;XP_006713547 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 HGNC:236 08973 600293;606703 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 2 p23.3 24882356 24982363 - 25042038 25142602 - 24819169 24919733 - 70798;704368;1580863;2312469;6480464;6484113;6907045 12798295;18948702;2255909 10089566;10807185;10808179;11162902;11299302;11549699;11884542;12122055;12477932;12503609;12623444;12626323;12782409;14702039;14993377;15489334;15815621;16303743;16344560;17581954;17586501;17895882;18391951;19576885;19946888;20201924;20467438;20935630;21042317;21079816;21139048;2165385;21890473;21906983;21963094;21980299;22344219;22681560;23077041;23128233;23449627;23517042;23563607;23583978;24113161;24561123;7937899;7959689;8034296;8476432;8663304;8798667;9417641;9628581;9768837;9920776 109 C9J969;C9JLX3;C9JYB5;H7C1A6;H7C1S5;O60266;U3KQ91;U3KQR1 AB011083;ABBA01045122;ABBA01045123;AC012073;AF033861;AK027857;AK075424;AK095173;AK122926;AMYH02003424;BC020148;BC126235;BC144119;CH471053;DA864173;NM_004036;XM_005264102;XM_005264104;XM_005264105;XM_006711925;XM_006711926;XM_006711927 AAD13403;AAI26236;AAI44120;AAY14787;ADR83435;BAA25437;BAC11613;BAG51385;BAG52998;BAG53802;EAX00739;EAX00740;EAX00741;NP_004027;O60266;XP_005264159;XP_005264161;XP_005264162;XP_006711988;XP_006711989;XP_006711990 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 AC-III;AC3;KIAA0511 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 HGNC:234 02620 600291 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 - 24787555 24804277 - 24318349 24335071 - 1580863;1300048;2312469;6480464;6484113;6907045;8554872 18948702 10089566;10807185;10808179;11055432;11299302;11549699;11884542;12477932;12503609;12626323;14702039;14993377;15489334;17081159;21228062;2165385;21890473;22505724;7766992;7959689;8663304;9417641 196883 G3V258;G3V262;H0YJ57;H0YLM0;H0YN72;Q86TZ7;Q8NFM4 ABBA01061341;AF086230;AF088070;AF497516;AK056745;AK122714;AK126468;AK131333;AL096870;AMYH02028880;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 HGNC: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 16 p13.3 4219322 4372878 - 4012650 4166186 - 3962649 4116185 - 1358365;1580863;2312469;6480464;6484113;6907045;8554872 11840511;18948702 10089566;10807185;10808179;11299302;11884542;12082561;12168954;12477932;12503609;12626323;12972952;14702039;14993377;14996950;15879435;16344560;17081983;19156168;20101707;20157112;20175803;20459687;20522523;20935630;2165385;21890473;21906983;21963094;21987572;22778270;23563607;24250222;24269684;8662814;8663304;9417641;9628581;9628827 115 I3L300;I3L342;I3NI20;O60503 AB011092;ABBA01026755;ABBA01026756;ABBA01026757;AC005736;AF036927;AJ133123;AK022108;AMYH02031308;AMYH02031309;AMYH02031310;AMYH02031311;AMYH02031312;AMYH02031313;AMYH02031314;AMYH02031315;AU141090;AW518323;AY028959;BC068612;BC136657;BC136658;BC151207;BC151229;BI770493;BQ614080;CH471112;DQ005545;DQ008441;KF454950;KF456147;KF456149;KF456154;NG_011434;NM_001116;XM_005255079 AAC24201;AAI36658;AAI36659;AAI51208;AAI51230;AAK29464;AAY21237;AAY27880;BAA25446;CAB65084;EAW85331;EAW85332;NP_001107;O60503;XP_005255136 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 HGNC:240 04489 603302 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 8 q24 127969937 128230969 - 131792546 132053012 - 130780300 131040766 - 1580863;1300048;2312469;6480464;6484113;6907045;8554872 18948702 10075700;10089566;10807185;10808179;11076863;11299302;11457491;11884542;12477932;12503609;12626323;12890691;1427768;14993377;16258073;16613843;17110338;1715695;17586501;18163389;18480272;19029295;19156168;19171672;19691954;20379614;20410303;20675917;20677014;21046358;21116278;2165385;22494970;23200849;23278386;7937899;8076676;8163524;8476432;8663304;9417641 114 E5RFR2;E7EVL1;P40145;Q4F7X0 ABBA01014221;ABBA01014222;ABBA01032442;ABBA01032443;AC011974;AC037453;AC087341;AC103726;AMYH02018793;AMYH02018794;AMYH02018795;CH471060;DQ104739;DR003657;M83533;NM_001115;XM_005250769;XM_006716501;Z35309 AAA35523;AAI11457;AAZ13596;CAA84552;EAW92135;NP_001106;P40145;XP_005250826;XP_006716564 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 HGNC:239 00051 103070 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 18 p11 779552 786777 + 904366 912173 + 904365 912172 + 1300256;1580863;2325295;2315956;2325258;2325308;2325255;2315964;2325309;2325314;2325306;2325298;6480464 11687615;14742740;15698618;15702783;15913892;16689670;16888218;18563302;19427307;19647005;9864055 10562300;10583729;10698193;10921074;11175907;11350957;11515750;11713978;11968092;11972030;12145407;12409223;12409225;12417650;12429744;12477932;12504599;12573802;12686458;12716746;12754213;12948842;1335692;1483839;15036651;15048918;15356166;1544422;15489334;15518890;15834139;16148159;16226889;16344560;16493055;16687279;16697281;16805430;16888207;16939974;17175032;1730060;17387318;1739432;17430174;17431645;17470806;17962362;18349695;18353507;18782879;19086053;19120039;19269029;19470168;19701709;19712974;19805477;19914336;19926922;20034524;20072116;20133634;20180986;20414143;20468064;20500521;20554694;20671407;20675276;21109983;21259400;21350482;21383633;21388403;21898124;22108610;22415357;22539193;22581436;22610912;22638857;22644900;22648511;2302217;23147486;23220033;23251661;23517078;23598374;24041830;24220567;24696141;24719484;7680413;8146174;8253796;8353512;8504103;8577931;9313778;9346858;9603988 116 P18509;Q53BH6 AB537500;ABBA01049825;AK294233;AK313050;AMYH02034197;AP000894;AY592943;AY592948;BC093837;BC101803;CH471113;DA145895;DC320719;DN991692;NM_001099733;NM_001117;S83513;X60435;XM_005258081;Z64808 AAB21470;AAH93837;AAI01804;AAT92256;AAT92261;BAG35881;BAH11708;BAJ09301;CAA42962;EAX01706;NP_001093203;NP_001108;P18509;XP_005258138 Hs.531719;Hs.727476 1649056;1740239;1742467;1852907;2170442;2218980 ADCYAP1__4255;D18S1079;D18S1231;D18S1372;GDB:197131;RH17915 MGC126852 OTTHUMP00000162201;PACAP;adenylate cyclase activating polypeptide 1;pituitary adenylate cyclase-activating polypeptide;prepro-PACAP 2314813 INSUL28_H APPROVED protein-coding ENSG00000141433 HGNC:241 02369 102980 REVIEWED 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. Several transcript variants have been observed for this gene, but the full-length natures of only two have been determined so far. [provided by RefSeq, Oct 2013] 16 16 16 q12.1 34836237 34866457 + 50278830 50352046 + 50244919 50318135 + 1298709;1580863;2312469;6480464;6484113;6907045;8554872 18948702;7860067 10089566;10807185;10808179;11113152;11299302;11665607;11884542;12454008;12477932;12503609;12626323;14702039;14993377;15342556;15489334;15581358;16344560;17135423;17760784;18541530;19008230;19874574;21139048;21481845;2165385;21822266;21890473;21988832;22264442;22505724;23000965;23128233;7584026;7584028;7937899;8663304;9034014;9417641 113 B3KSJ0;F5H4D1;F5H699;H3BMA5;H3BQ93;I3L2Y1;I3L3Q5;P51828;Q86YI0 AA740624;ABBA01000875;AC007597;AK093706;AMYH02032012;BC039891;BC098566;BC126271;BC144120;BM543987;BP270410;BU631614;CH471092;D25538;DA047753;KF456186;NM_001114;NM_001286057;XM_005255779;XM_005255780;XM_005255781;XM_005255782;XM_005255783;XM_005255784;XM_005255785;XM_005255786;XM_006721128 AAH39891;AAI26272;BAA05021;BAG52752;EAW82753;EAW82754;EAW82755;NP_001105;NP_001272986;P51828;XP_005255836;XP_005255837;XP_005255838;XP_005255839;XP_005255840;XP_005255841;XP_005255842;XP_005255843;XP_006721191 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 HGNC:238 02663 600385 REVIEWED 7252953 ADD3-AS1 ADD3 antisense RNA 1 10 10 10 105436996 105449340 - 111705317 111768139 - 109945559 110008381 - 20460270;9417904 100505933 ABBA01063037;ABBA01063038;ABBA01063039;AI286215;AI425042;AL162613;AL354951;AMYH02023792;BU561061;BX537640;DB460870;LN608360;NR_038943;U92992 Hs.604103 1686722;5022578 D1S1423;RH92969 ncrna HGNC:48682 VALIDATED 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 2 p13.3 70739895 70846052 - 70888334 70995375 - 70662084 70768243 - 1298717;1625293;1331525;1300257;1580863;6480464;7174725;8554872 10845937;15118671;16497648;1840603;19838659 10485892;11526103;12427140;12477932;12653680;12951058;14517477;14553963;15146197;15345747;15489334;15528469;15716695;15815621;15834281;15963851;16105548;16116087;16344560;17301826;17854487;18003638;18347014;18667944;18787518;18959617;19460752;19913121;20379614;20628086;21139048;21606488;21697133;21832049;24129186;24816145;3693401;7490111;7642559;7707875;7999065;8563174;8566798;8626479;8810272;8889549;9244430;9679146 119 C9J080;C9J299;C9JJK3;C9JTM0;P35612;Q05DK5 AB209227;AB593080;ABBA01075539;ABBA01075540;AC005234;AC007395;AF001597;AF486420;AF486421;AF486422;AF486423;AK291007;AK297250;AK309773;AMYH02004041;AMYH02004042;AMYH02004043;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 HGNC:244 00037 102681 REVIEWED 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 10 q25.2 105497404 105626995 + 111765627 111895323 + 110005869 110135565 + 1300354;1300258;1580863;2317717;6480464;8554872 10485892;12810632;15329129 10581174;11895774;12477932;15489334;15561718;15716695;15834281;15963851;16385451;17081983;18475162;18667944;18787518;19913121;20379614;20460270;20628086;20810786;21139048;21164023;21890473;23000965;23275563;23333304;23752268;23814265;23836506;23872602;24104524;24457600;24816145;2503523;8125298;8893809 120 Q5VU08;Q9UEY8 AB209810;ABBA01063035;ABBA01063036;ABBA01063037;AK130789;AK223270;AK291488;AL162613;AL590628;AL600737;AMYH02023792;AMYH02023793;AMYH02023794;BC021694;BC043143;BC057285;BC062559;BI544596;BX647403;BX647442;BX648016;CF457028;CH471066;D67031;EF553523;NM_001121;NM_016824;NM_019903;U37122;XM_005269529;XM_005269530;XM_005269531;XM_005269533;XM_005269534;XM_005269535;XM_006717626;XM_006717627;XM_006717628;XM_006717629;Y14372 AAB17126;AAH62559;BAA23783;BAD93047;BAD96990;BAF84177;CAB51805;CAB51806;CAI46048;EAW49571;EAW49572;EAW49573;EAW49574;NP_001112;NP_058432;NP_063968;Q9UEY8;XP_005269586;XP_005269587;XP_005269588;XP_005269590;XP_005269591;XP_005269592;XP_006717689;XP_006717690;XP_006717691;XP_006717692 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 HGNC:245 03339 601568 REVIEWED 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 7 p14 31081020 31135194 + 31092076 31151093 + 31052461 31111479 + 1580863;2315956;2315964;6480464;8554872 18563302;19647005 10235634;10562300;10583729;10698193;10764955;11930171;11959368;12036966;12409223;12409233;12477932;12573802;12690205;12732341;12948842;14702039;14742913;15518890;15670850;16226889;16344560;16372333;16401644;16572459;16805430;16823490;16888199;16939974;17470806;18240029;18353507;18577758;19086053;19269029;19926922;20026142;20395540;21185349;21350482;21621269;21912390;22539193;22581436;22609358;22776899;22961270;23147486;23280952;23328528;23394710;23505260;23818986;24220567;24516127;24696141;7851900;7902709;8253796;8663363;8703026;8770902;8933357;8954788;9543159 117 C9JVH3;E9PFU5;H0Y813;P41586 AACC02000087;AB065700;ABBA01056815;ABBA01056816;ABBA01056817;AC006466;AI815550;AK096545;AK124304;AK226138;AK290046;AMYH02015460;AMYH02015461;AY366498;AY462278;AY462279;AY495951;AY495952;BC117116;BC136267;BC143679;BX538156;CA432770;CH471073;DA809763;KF510285;KF511015;KF511016;NG_029869;NM_001118;NM_001199635;NM_001199636;NM_001199637;U09216;XM_005249618;XM_006715645;XM_006715646;XM_006715647;XM_006715648 AAA19323;AAI17117;AAI36268;AAI43680;AAQ72806;AAR26314;AAR26315;AAR87870;AAR87871;BAC05923;BAF82735;EAL24444;EAW93978;NP_001109;NP_001186564;NP_001186565;NP_001186566;P41586;XP_005249675;XP_006715708;XP_006715709;XP_006715710;XP_006715711 Hs.377783 1774797;1854017;2111083;2117148;2137163;2158814;2170251;2170253 A001T12;ADCYAP1R1;BCD1665;D7S604E;G19621;RH66404;T03315;WI-11192 PAC1;PAC1R;PACAP-R-1;PACAP-R1 OTTHUMP00000123435;OTTHUMP00000202503;OTTHUMP00000202504;OTTHUMP00000202505;PACAP receptor 1;PACAP type I receptor;PACAPR;PACAPRI;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 HGNC:242 00045 102981 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 4 p16.3 2756785 2842980 + 2845454 2931803 + 2843727 2930076 + 1298717;1302895;631736;1331525;1624953;1580863;1559299;5147993;5147995;5147999;5147996;5147998;5148000;5148001;6480464;7174725;7240710 11226670;11775124;15118671;15474463;16100725;16420563;17051589;17082469;1840603;18679149;19731222;19838659;8543181;9149697 10209029;10391210;10516168;10585876;10823823;10950304;11110979;11116113;11283377;11447495;11518842;11528213;11711521;11728946;11847182;11882573;11918733;11918988;11926892;12052841;12082592;12107246;12107410;12172317;12195118;12195119;12394950;12427140;12477932;12623934;12697976;1284592;12885793;1345173;13679477;14508192;14530292;14553962;14643575;14733918;15039125;15055253;15059531;15097233;15110895;15187197;15302935;15326084;15378162;15493144;15554870;15608390;15716695;15773232;15815621;15822905;15824464;15834281;15910744;16043664;16080807;16266470;16289097;16314886;16392768;16450155;16497648;16531798;16612256;16615274;16702981;16724011;16970091;17003363;17074803;17081983;17083073;17189961;17215849;17267840;17301826;17452507;17472579;17765140;17825147;17921817;17984662;18003973;18393230;18398333;18413308;18458162;18475162;18513389;18524856;18591455;18657677;18660489;18667944;18787518;18800139;18977990;19047752;19057513;19103106;19131662;19145769;19145770;19148102;19166692;19199261;19238444;19242491;19243623;19247266;19263529;19274077;19443911;19479237;19559392;19567882;19574959;19620885;19729965;19779330;19779464;19913121;19960031;20145305;20160191;20237496;20473689;20536507;20565774;20577119;20628086;20667857;20810786;20838486;20877298;20927398;20929695;21139048;21194526;21228790;21339657;21364877;21736685;21900206;21906983;22117679;22163289;22197999;22198647;22272309;22307086;22476228;22677360;22678362;22810272;23000965;23284854;23383273;23509723;23540412;23691048;23863317;23985264;24332808;24379415;24816145;2976282;3600811;3693401;7490111;7642559;7774961;7959767;8626479;8663089;8810272;8889548;8946164;9674650;9679146 118 D6RAH3;D6RF25;D6RJE2;E7ENY0;E7EV99;H0Y9H2;H0YFD8;H0YG19;P35611 ABBA01029483;ABBA01029484;ABBA01029485;AK025413;AK295457;AK298523;AK309186;AL121750;AL390065;AMYH02008620;AMYH02008621;AMYH02008622;BC013393;BC042998;BI460192;BU729599;BX465861;CA391117;CH471131;CR936693;CR995783;CX783962;D44632;L07261;L29296;NG_012037;NM_001119;NM_001286645;NM_014189;NM_014190;NM_176801;S70310;S70312;XM_005247933;XM_005247934;XM_005247935;XM_005247936;XM_005247937;Z68280;Z74617 AAB05645;AAB30913;AAH13393;AAH42998;BAG58391;BAG60726;CAA98970;CAI95603;CAM28230;CAM28231;CAM28232;EAW82498;EAW82499;EAW82500;EAW82501;EAW82502;EAW82503;EAW82504;EAW82505;NP_001110;NP_001273574;NP_054908;NP_054909;NP_789771;P35611;XP_005247990;XP_005247991;XP_005247992;XP_005247993;XP_005247994 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 HGNC:243 00036 102680;145500 REVIEWED 1352182 ADFN albinism-deafness syndrome ASSOCIATED WITH Albinism deafness syndrome (inferred) 7240710 122 HGNC:247 300700 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 4 q23 97494786 97509404 - 100197523 100212185 - 99276366 99291028 - 1580863;6480464;6907045;8554872 10424757;11303599;11329013;11356310;12050823;12081471;12392591;12477932;14634838;15279067;15489334;16153155;1620113;16685648;16712791;17185388;17632320;18331377;18510611;18828806;19124506;19193628;19343046;19526455;19618839;19687126;19874574;19913121;20628086;20634891;20872569;2169444;21988832;23456092;23468174;2347582;23769565;23891545;2737681;2920825;2935875;3006456;3013304;9982 124 P07327 ABBA01063673;AC097530;AK290558;AK309597;AMYH02009796;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 HGNC:249 00063 103700 REVIEWED 1344715 ADH5P1 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 1 1446828 129 HGNC:254 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 4 q23 97289594 97307408 - 99992129 100009931 - 99070978 99088788 - 1580863;5128886;5128891;5128882;5128890;5129088;5129091;5128892;6480464;6907045;8554872 15919956;17543375;19395503;19514054;19806079;20431245;8462548 10661511;10978156;11368338;12004059;12141816;12196016;12477932;12484756;1446828;1453005;14608084;14702039;15123239;15489334;1577708;16169070;16344560;16685648;17185388;18095160;18331377;18636124;18996923;19056867;19165527;19596685;19874574;19898482;20158305;20308539;20335826;20371487;20634891;20677014;20819778;21139048;21832049;21890473;21906983;21920416;21963094;21988832;22335564;22505724;23000965;23251661;23285246;23355119;23456092;23468174;23752268;24097068;24816145;24895131;2679557;2818582;2934732;2936344;3365377;6375718;6424546;7948423;8460164;8494891;8503936;9018047 128 D6R9G2;D6RAY0;D6RD54;D6RFE4;H0YAG8;P11766;Q6IRT1 ABBA01063669;AC019131;AK124994;AK129570;AK312367;AMYH02009795;AY987960;BC014665;BC070491;BQ881561;BT019832;BT019833;CH471057;CR536491;CR541689;DA737788;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 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 HGNC:253 00064 103710 REVIEWED 1343309 ADGB androglobin ENCODES a protein that exhibits calcium-dependent cysteine-type endopeptidase activity (inferred); heme binding (inferred); iron ion binding (inferred); INVOLVED IN oxygen transport (inferred); proteolysis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN intracellular (inferred); INTERACTS WITH potassium dichromate 6 6 6 q24.3 147660570 147877021 + 146920136 147136598 + 146598965 146815462 + 6480464;8554872 11329013;14574404;14702039;22019778;22115833 79747 E5RFN4;E5RG76;E5RGD1;E5RIM8;F8W7W4;H0Y333;H0Y334;H0YBE5;H0YC38;Q8N7X0;Q9H5S1 ABBA01025720;AK026774;AK097570;AL138916;AL158199;AL359547;AL832192;AMYH02014655;AMYH02014656;BG199812;CH471051;DN831198;NM_024694;XM_006715566 BAB15549;BAC05106;EAW47827;EAW47830;NP_078970;Q8N7X0;XP_006715629 Hs.720870 1644548;1749657;2137173;2148627 RH46623;SHGC-111339;WI-11840;WI-16660 C6orf103 OTTHUMP00000225365;calpain-7-like protein APPROVED protein-coding ENSG00000118492 HGNC:21212 614630 PROVISIONAL 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 4 4 4 q23 97524703 97539748 - 100227527 100242572 - 99306387 99321442 - 1580863;6480464;6907045;7240710;8554872 10424757;10733556;11051375;11117576;11238183;11259352;11274460;11398342;11410735;11584144;11696658;11748356;11781503;11781511;11966948;12080432;12081471;12089173;12153842;12173598;12189549;12211622;12213289;12244546;12351924;12419833;12452180;12461493;12477932;12505800;12517056;12519453;12545748;12554615;12658118;12668919;12710951;12713190;12777946;12824748;12884000;12915514;12915519;14634838;14693654;14745297;14768474;15084894;15162847;15220553;15318096;15318112;15327835;15342556;15456134;15489334;15511718;15519646;15534263;15542751;15597094;15842823;15863807;15886702;15902904;15957670;16006997;16078602;16086315;16117582;16127737;16135443;16163053;16184481;16235983;16307179;16309369;16324524;16332725;16358724;16385179;16404797;16423594;16440362;16520888;16600530;16608143;16685648;16702384;16737450;16758956;16822169;16930209;16958672;16970620;17036331;17071628;17134659;17134660;17180580;17185388;17207821;17250612;17268812;17279314;17285601;17289126;17292341;17293864;17295732;17421009;17454860;17471563;17486761;17489985;17515815;17517051;17559546;17618743;17631643;17762315;17847010;17850643;17885622;17923853;17963305;18033686;18049455;18056758;18078815;18216179;18254707;18266839;18299763;18322963;18331377;18336668;18336671;18382665;18439068;18500343;18510611;18516948;18715275;18761854;18763293;18773092;18782342;18784359;18818748;18936436;1896463;18996923;19019335;19068087;19094228;19124091;19124506;19164089;19185835;19193628;19250143;19262484;19298323;19339270;19343046;19365573;19403456;19420105;19449376;19452585;19469618;19486361;19527514;19550411;19618839;19655364;19667493;19687126;19698717;19706845;19751749;19769429;19799139;19812523;19826048;19860798;19861527;19874574;19887496;19898482;19913121;19948975;20010786;20025435;20031627;20077761;20101753;20140262;20171022;20180859;20205700;20219057;20336794;20357489;20401433;20403997;20437850;20462248;20477764;20477767;20494945;20568895;20598484;20628086;20634891;20685249;20700531;20806441;20833657;21048924;21133627;21157980;21166830;21168396;21284671;21303386;21351086;21355870;21378355;21437268;21497796;21517275;21576033;21601984;21635275;2169444;21895720;21917409;21968928;21988832;22004471;22048268;2210383;22150722;22231434;22287615;22292652;22325912;22363810;22560290;22674868;22690706;22703580;22930414;22931071;2295648;22960999;23149980;23266708;23285246;23296215;23414439;23456092;23468174;2347582;23550892;23615284;23701534;23743675;23806636;23824954;23895337;23915245;23969552;2398055;24217933;24334570;24446180;24553426;25011450;2547609;2679216;2737681;2935533;2935875;2986130;3000832;3006456;3397059;3619918;6374651;6391920;8201622;8663387;8889548;9982 125 D6RHZ6;P00325;V9HW50 ABBA01063673;AC097530;AF040967;AF153821;AI702614;AK299409;AK301018;AK303945;AK304396;AK311712;AK316501;AMYH02009796;BC033009;BP317995;BU687181;BX641105;BX647469;CH471057;D00137;DC392123;DQ017646;FJ224285;L38290;M21692;M24308;M24316;M24317;M32657;NG_011435;NM_000668;NM_001286650;X03350;X15447;XM_006714079 AAA51592;AAA51884;AAA52277;AAB48003;AAB59496;AAB96912;AAD37446;AAH33009;AAY22180;ACI45977;BAA00084;BAG61391;BAG62635;BAG64873;BAG65231;BAH14872;CAA27056;CAA33487;EAX06095;EAX06096;EAX06097;EAX06098;NP_000659;NP_001273579;P00325;XP_006714142 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;HEL-S-117 ADH, beta subunit;OTTHUMP00000220192;alcohol dehydrogenase 1B;alcohol dehydrogenase 2 (class I), beta polypeptide;alcohol dehydrogenase subunit beta;aldehyde reductase;epididymis secretory protein Li 117 APPROVED protein-coding ENSG00000196616 HGNC:250 00065 103720;103780 REVIEWED 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 4 q23 97554804 97571075 - 100257649 100273917 - 99336492 99352760 - 1559302;1580863;2325313;6480464;6907045;7240710;8554872 14726542;19068087 10405330;10424757;11045794;11051375;11159741;11207350;11274460;11303599;11696658;11700261;11740346;11748356;11752857;11802217;11966948;12173598;12376487;12477932;12500098;12505800;12517056;12554615;12631283;12658118;12668919;12710951;12713190;12750236;12782305;12884000;12915519;14608084;14634838;14691069;14693654;14732773;14745297;15138216;15220553;1524834;15318112;15327835;15370874;15375565;15489334;15511718;15519646;15642852;15643610;15654505;15734975;15767341;15842377;15863807;15897724;15902904;15910847;15941567;16018848;16039674;16051248;16086315;16117582;16132793;16184481;16239350;16287084;16344274;16415175;16440362;16600530;16675441;16685648;16712791;16737450;16758956;16801984;16930209;17018785;17071628;17134660;17185388;17268812;17285601;17295732;17379229;17421009;17449906;17454860;17517051;17543846;17559142;17563066;17629074;17631643;17665311;17885622;17923853;18043297;18254707;18266839;18268116;18331377;18510611;18676680;18761854;18773092;18818748;18846501;18936436;1896463;18996923;19019335;19038239;19120062;19124506;19170196;19189524;19193628;19339270;19343046;19447389;19486361;19527514;19550411;19581569;19618839;19625176;19692168;19812523;19861527;19874574;19887496;19898482;19913121;19948975;20031627;20101753;20171022;20180013;20205700;20301387;20301402;20350778;20357489;20401433;20437058;20437850;20448861;20453000;20477767;20494945;20568895;20615890;20628086;20634891;20700531;20810466;21163612;21303386;21437268;21482329;2169444;21705789;21917409;22004471;22048268;22279680;22325912;22353233;22363810;22414625;22476623;22675424;22930414;22931071;23321361;23404349;23456092;23468174;2347582;23516558;23895337;24217933;2737681;2935875;3006456;3397059;3758060;6391921;6391957;7771649;8201622;9982 126 P00326;Q71V49 ABBA01063673;AC097530;AF031832;AMYH02009796;AMYH02009797;BC062476;BC066227;BC066228;BC067419;BC067420;BC067421;BC067422;BC074771;BC074786;CB114902;CD014078;CH471057;D11067;DA562068;DQ088981;KF459631;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 HGNC: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 4 q22 97342359 97362981 - 100044832 100065449 - 99123681 99144298 - 1300048;1580863;6480464;6907045;8554872 10407146;11009184;11279029;11752456;11900616;11916005;11964133;11997393;12477932;12631290;1362387;14745297;15369820;15489334;15863808;16220108;16237392;16787387;17069770;17207965;18029348;18331377;18801187;1889753;18996923;19182438;19193628;19343046;19687126;19861527;19874574;19898482;19925625;20363298;20453000;20462248;20626721;20634891;20800603;21184752;21480392;21635275;21832049;21988832;22044940;22147505;22232963;22960999;23456092;23468174;24051444;24449167;3036213;3466164;8032153;9570155 127 D6R9K8;D6RF43;D6RIB1;H0Y9N0;P08319 ABBA01063672;AC019131;AK290835;AK295556;AK313649;AMYH02009796;AP002026;AV659364;AY974245;BC022319;CH471057;EU668317;M15943;NM_000670;X56411;X56419 AAA51595;AAH22319;AAX59034;ACF94470;ADQ32176;BAF83524;BAG58459;CAA39813;EAX06088;EAX06089;NP_000661;P08319 Hs.1219 1771315;2149576 SHGC-35298;STS-X56411 ADH-2;HEL-S-4 OTTHUMP00000219911;OTTHUMP00000219912;OTTHUMP00000220033;alcohol dehydrogenase 4;alcohol dehydrogenase class II pi chain;aldehyde reductase;epididymis secretory protein Li 4 APPROVED protein-coding ENSG00000198099 HGNC:252 00068 103740 REVIEWED 1352662 ADH5P3 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 3 1 1 1 q43 213588689 213590076 + 240333443 240334830 + 240170143 240171530 + 2294756;2818582 100131810 ABBA01033230;AL359918;AMYH02003017;NG_008686 1754147;2126932 D1S2600;SHGC-132176 pseudo HGNC:22991 INFERRED 1342585 ADH5P2 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 2 1 1 1 p31.1 78226348 78227746 + 79986754 79988152 + 79521069 79522467 + 23251661;2818582 343296 ABBA01074377;AL606527;AMYH02001325;NG_008685 pseudo HGNC:22976 INFERRED 1342497 ADH5P4 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 4 6 6 6 q12 64710545 64713036 - 66545370 66547961 - 65835477 65838068 - 16201836;20800603;2818582 642443 Q2VIM7 ABBA01023930;AC216138;AL391500;AMYH02013833;DQ120656;NG_008303 ABB92441 1341737 D6S1551 ADH5B;RCADH5;bA707M13.2 pseudo HGNC:21377 INFERRED 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 4 q23 97421068 97437673 - 100123795 100140403 - 99202638 99219246 - 1580863;6480464;6907045;8554872 10975466;11095947;12050823;12477932;14702039;1593644;16685648;17185388;1755855;1881901;19056867;19343046;19698717;19874574;20819778;2198032;21988832;22690706;23456092;23468174;23534349;7695785 130 B7ZAL1;D6RDN5;D6RH17;E9PBI1;H0Y8U2;P28332;Q8IUN7 ABBA01063672;ABBA01063673;AJ278908;AK092768;AK298290;AK316326;AMYH02009796;AP002026;AY962311;BC039065;CH471057;KF457794;M84402;M84409;NM_000672;NM_001102470;XM_005262731;XR_244619 AAA35509;AAH39065;AAX44051;BAG52607;BAG60550;BAH14697;CAC10399;EAX06090;EAX06091;NP_000663;NP_001095940;P28332;XP_005262788 Hs.586161 1671970;1773450 G33392;SHGC-12728 ADH-5 OTTHUMP00000161647;OTTHUMP00000161648;OTTHUMP00000161649;OTTHUMP00000220107;alcohol dehydrogenase 6;aldehyde reductase APPROVED protein-coding ENSG00000172955 HGNC:255 00067 103735 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 + 37209838 37217104 + 38581195 38588461 + 6480464 12477932;15567149;16132694 149685 A2A2E7;F5GXV4;H0Y829;Q0VDE8 AA974242;ABBA01052526;AL035419;AMYH02037062;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;small adipocyte factor 1 (SMAF1) APPROVED protein-coding ENSG00000182035 HGNC:28606 18068 611396 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 4 q23-q24 97630520 97653769 - 100333418 100356667 - 99412261 99435510 - 1580863;6480464;6907045;8554872 10631979;10969996;11410738;11997393;12477932;14502680;15028279;15456134;1592118;16180008;16344560;16685648;17185388;17486761;17918242;17921519;18029348;18231859;18331377;18500343;19193628;19343046;19609347;19687126;19861527;19874574;19898482;20158305;20336794;20700531;20800603;21145461;21437268;23149980;23314748;23456092;23468174;23568457;7771649;7876099;7876191;7925371;8074657;8082805;8125298;8195208;8824810;8889548;9228021;9600267 131 C9JP14;E9PFG0;P40394 ABBA01063673;AK223472;AK301657;AK301696;AK310811;AK312854;AMYH02009797;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 HGNC:256 02515 600086 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 + 67344693 67384260 + 66432483 66468809 + 1580863;6480464;8554872 12477932;12592711;14702039;15221005;16435184;16616524;16712791;19013439;20877624;21988832;23517143 137872 B4DFI7;B4DV11;E5RFL4;F2Z2N0;F2Z3D8;F2Z3E5;Q8IWW8 AB075879;ABBA01041871;AC009879;AK056992;AK293530;AK294114;AK300243;AK300881;AMYH02018106;AY033237;BC047492;BC064634;BC110290;BE241883;BG698892;BQ182872;CB157325;CH471068;KF458771;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 HGNC:16354 12428 611083 VALIDATED 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 - 3501690 3523350 - 3497919 3519579 - 6480464;6907045 11602742;12477932;14702039;14718544;15221005;15489334;15815621;15938715;16344560;16712791;17207965;17212658;17353931;17786183;18029348;19626614;20379614;21139048;21832049;21963094;22505724;23824909;24250222;24816145;8125298 55256 H7C382;Q9BV57 AB073609;AB158319;ABBA01013723;AC114810;AC142528;AC231981;AF087863;AF403478;AK001775;AK127473;AK222467;AK225278;AMYH02003192;AMYH02003193;BC001467;CB129674;CH471053;DA559726;FB342953;FB711076;NM_018269;XM_005264696 AAH01467;AAL25800;AAP97173;AAX82038;AAY24022;ADQ33221;BAA91901;BAC86996;BAD10866;BAD38646;BAD96187;CAR81477;CAS91493;EAX01064;EAX01065;NP_060739;Q9BV57;XP_005264753 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 HGNC:30576 17607 613400 REVIEWED 6481304 ADIPOQ-AS1 ADIPOQ antisense RNA 1 ASSOCIATED WITH Hypoadiponectinemia (inferred) 3 3 186569675 186573912 - 186851886 186856123 - 8554872 12477932;19165155;20018283 100874095 ABBA01058379;AC072018;AMYH02008352;BC036509;HG496473;NR_046662 Hs.638968;Hs.80485 1770624;5015861;5037552;7185938 D10S16;D8S2279;G29832 RP11-240O9.2 APPROVED ncrna ENSG00000226482 HGNC:40648 PREDICTED 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. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2014] 1 1 1 q32.1 176039207 176056946 - 202909960 202927700 - 202940829 202958572 - 1331376;1625761;1625762;1625763;1625764;1625765;1580863;1642395;6480464;8694415;8695938;8694417;8695941;8695947;8694410;8694465 12802337;16326833;16415076;16483885;16823476;17285539;17391161;18451143;19723917;21397927;22387454;23533720;24028144;24669271 10810093;12477932;14651988;14702039;15105989;15277397;15331527;15454091;15489334;15757860;15918014;15983228;16023994;16043761;16044242;16139921;16205883;16443913;16505255;16601138;16609881;16622416;16678125;16700915;16724230;16793963;16899222;16955209;17001470;17003341;17006986;17054465;17118803;17123704;17207965;17209173;17216283;17416799;17426101;17459059;17697862;17712104;17716299;17878241;17911635;18097620;18163210;18294218;18310295;18313838;18466348;18548168;18599322;18622492;18660489;18713296;18719649;18827209;18842004;18854016;18923878;18982021;18988888;18996102;18996753;19010305;19037660;19051043;19109202;19120283;19144434;19196212;19208777;19233263;19322201;19453261;19487733;19524379;19536175;19549705;19631916;19671624;19672024;19727342;19887569;19909601;19913121;19946888;19948975;20032495;20059631;20071013;20074551;20120899;20125105;20129487;20332107;20336470;20432444;20470935;20628086;20682687;20696134;20697428;20712903;20875820;20938443;20952631;21150319;21195057;21273992;21284833;21289205;21321996;21331343;21351255;21538348;21632074;21749709;21750988;21761356;21890473;21900123;21960694;21963094;21980131;21988832;22049178;22050309;22078265;22082804;22087284;22106445;22186245;22227293;22265003;22340319;22495003;22534793;22633650;22767440;22842631;22907586;23255609;23293232;23351195;23355630;23358237;23358721;23386639;23388528;23500159;23656997;23756394;23762377;23813974;23860143;23860432;23922112;23922494;23971629;24096711;8125298 51094 C9J0W7;C9JNM5;F8W782;Q96A54 ABBA01027489;ABBA01027490;AC096632;AF125179;AF125180;AF151803;AI251444;AK001484;AK058114;AK124455;AK222503;AMYH02002507;AY424279;BC001594;BC010743;BI597715;BX461217;CH471067;DA523648;HC299099;HD061930;NM_001290553;NM_001290557;NM_001290629;NM_015999;NR_046083;XM_006711360;XM_006711361 AAD34040;AAH01594;AAH10743;AAQ13552;AAQ13553;AAR08367;ADQ32734;BAD96223;BAG50922;CBJ06650;CBS99526;EAW91449;EAW91450;NP_001277482;NP_001277486;NP_001277558;NP_057083;Q96A54;XP_006711423;XP_006711424 Hs.5298;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 HGNC:24040 06402 607945 REVIEWED 7205280 ADIPOR1P2 adiponectin receptor 1 pseudogene 2 14 14 14 q32.13 75156144 75156997 + 95100009 95100862 + 94633672 94634525 + 390503 ABBA01030412;AL049839;AMYH02029785;NG_022863 pseudo HGNC:44911 INFERRED 7241120 ADIRF-AS1 ADIRF antisense RNA 1 10 10 q23.2 82728498 82734069 - 88725498 88731068 - 100133190 AC025268;AK128041;AL136982;AL157440;BC017676;XR_110430;XR_111094;XR_171863 Hs.714477;Hs.739872 1681195;1731939;1778252;2184780;5015961 D10S608;D15S1477;RH44865;RH68273;RH93785 ncrna HGNC:45127 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 10 q22 69196280 69755359 + 75910943 76469061 + 74151185 74709303 + 1300259;1580863;1300048;2313341;2313360;6480464;6482670;6482662;6482663;6482668;6482666;6482652;6482655;6482302;6482667;6482664;6482646;6482650;6482657;6907045;8699517;7240710;8554872 11123368;11160636;11423084;11997462;12729803;16685255;16827901;17457365;21427729;21635241;21964979;22521820;8207212;9435554;9731623;9932716 10215863;11242543;12112843;12477932;12820662;15489334;16344560;16385451;16712791;18309031;185014;18600536;18600545;19635462;19913121;20379614;20392501;20698827;20881134;21139048;21906983;21931568;21988832;22092111;23704328;24128682;24816145;8577746;8917457;9070863;9843365 132 P55263 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;AMYH02023345;AMYH02023346;AMYH02023347;AMYH02023348;AMYH02023349;AMYH02023350;AMYH02023351;AMYH02023352;AMYH02023353;AMYH02023354;AMYH02023355;BC003568;BJ989861;BM472149;BT006788;CB133126;CH471083;DA356691;KF455259;NG_030484;NM_001123;NM_001202449;NM_001202450;NM_006721;U33936;U50196;U90338;U90339;XM_005269538 AAA97893;AAB01689;AAB50234;AAB50235;AAG13958;AAH03568;AAP35434;ABM92241;ABW03284;BAF83322;BAH13519;BAH13786;EAW54555;EAW54556;NP_001114;NP_001189378;NP_001189379;NP_006712;P55263;XP_005269595 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 APPROVED protein-coding ENSG00000156110 HGNC:257 00039 102750;614300 REVIEWED 7205113 ADIPOR1P1 adiponectin receptor 1 pseudogene 1 10 10 10 p12.31 22141241 22142089 + 22453505 22454353 + 22164576 22165424 + 645220 ABBA01034483;AL157831;AMYH02022428;NG_022165 pseudo HGNC:44910 INFERRED 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 3 q27 184996682 185012474 + 186560463 186576252 + 186842674 186858463 + 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;8695946;8694456;8694473;8694416;8694422;8694469;7394795;8694415;8694433;8695938;8695927;8695940;8694417;8695941;8694464;8694410;8694447;8694412;8695929;8547563;8695950;8694418;8694443;8694475;8694468;8695951;8694425;8694470;8695928;8695935;2289282;8695947;8695949;8554872;8694413;8694466;8694463;8695930;8695925;8695926;8694430;8695931;8694455 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9370 A8K660;B2R773;Q15848 AB012165;ABBA01058379;ABBA01058380;AC072018;AC112907;AJ131459;AJ131460;AJ131461;AJ131462;AJ131463;AK291525;AK312868;AL832470;AMYH02008352;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 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 HGNC:13633 05671 605441;612556 REVIEWED 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 + 88728188 88730666 + 86968431 86970909 + 737633;6480464 12477932 15489334;15851553;16341674;19056867;19204726;19444912;21900206;21906983;23239344;23467766;8619847 10974 Q15847;Q5TBU2;Q5TBU5 ABBA01033689;AI401530;AK312031;AL136982;AMYH02023488;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;adipose-specific protein 2 APPROVED protein-coding ENSG00000148671 HGNC:24043 16575 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 12 p13.31 3408168 3505568 + 1800147 1897845 + 1690981 1788679 + 1331376;1625763;1625764;1625765;1642395;2312480;2312486;2312478;2312488;2312495;2312476;2312490;6480464;8694417;8695941;8695947 12802337;16326833;16415076;16483885;16823476;17884446;18075289;18222103;18363889;18548168;19220660;19631916;19723917;23533720;24028144 12477932;14651988;14702039;15105989;15331527;15454091;15489334;15757860;15918014;15983228;16044242;16139921;16205883;16505255;16601138;16609881;16622416;16678125;16700915;16724230;16899222;16955209;17001470;17006986;17054465;17118803;17123704;17207965;17209173;17216283;17416799;17426101;17459059;17697862;17716299;18294218;18310295;18466348;18660489;18713296;18719649;18842004;18923878;18931038;18988888;18996102;18996753;19037660;19051043;19120283;19208777;19453261;19487733;19502591;19549705;19662435;19671624;19887569;19909601;19913121;20032495;20120899;20125105;20178558;20308432;20336470;20379614;20423458;20470935;20602615;20628086;20682687;20712903;20875820;21273992;21284833;21331343;21351255;21538348;21632074;21943112;21960694;21963094;21980131;22082804;22187345;22227293;22265003;22379998;22479352;22534793;22633650;22819899;22907586;23255609;23355630;23358721;23376713;23386639;23656997;23779096;23922494;23971629;24250222;8889548 79602 Q86V24 ABBA01048817;ABBA01048818;ABBA01048819;AC005183;AC005343;AK025085;AK127196;AK128511;AMYH02025876;AMYH02025877;AY424280;BC004906;BC051858;BM973815;CH471116;HD061932;NM_024551;XM_005253789;XM_006719018 AAH51858;AAR08368;ADQ33094;BAB15062;BAC86881;BAC87473;CBS99527;EAW88924;NP_078827;Q86V24;XP_005253846;XP_006719081 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 HGNC:24041 06403 607946 VALIDATED 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 22 q13.33 34796024 34800900 + 50919985 50924866 + 50481556 50486437 + 1303968;6480464 14706825 10591208;12036966;12477932;14615490;14615790;14702039;15461802;16359754;17008878;17346853;17965749;18240029;18460550;18577758;18829738;19255504;19535789;19592612;19684198;19910445;20596793;21658025;21671901;21816853;21816966;21832999;21839130;22009752;22922959;23337723;23499766;8125298 79924 Q6IC89;Q7Z4H4 AB121034;AB236970;ABBA01042630;AF529213;AK024788;AK090635;AK092640;AK225097;AL096767;AMYH02038614;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 HGNC:28898 10563 608682 VALIDATED 9068737 ADNP-AS1 ADNP antisense RNA 1 ASSOCIATED WITH Congenital disorder of glycosylation type 1E (inferred) 20 20 49547576 49561671 + 50930984 50945134 + 8554872 101927631 ABBA01052791;ABBA01052792;AI827739;AL034553;AMYH02037248;AMYH02037249;AMYH02037250;BF064247;BX105402;HG511436;HY015168;LK937946;NR_110007;NR_110008;NR_110009 Hs.301898 ncrna ENSG00000259456 HGNC:51227 VALIDATED 730917 ADM adrenomedullin The protein encoded by this gene is a preprohormone which is cleaved to form two biologically active peptides, adrenomedullin and proadrenomedullin N-terminal 20 peptide. Adrenomedullin is a 52 aa peptide with several functions, including vasodilation, regulation of hormone secretion, promotion of angiogenesis, and antimicrobial activity. The antimicrobial activity is antibacterial, as the peptide has been shown to kill E. coli and S. aureus at low concentration. [provided by RefSeq, Aug 2014] 11 11 11 p15.4 10448490 10450771 + 10326642 10328923 + 10305095 10307376 + 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;7364948;7364990;7364987;7364952;7364986;7364958;5508764;7364988 11331218;12623952;14718403;15086360;15284680;15350700;15789277;15973109;16450076;16524566;16625237;16713642;16715121;16728681;16735801;16793965;16841081;16955796;17043245;17255858;17263982;17318497;17335899;17355819;17363587;17557032;17766482;18403050;18945953;19009024;19212187;19216096;19424162;20132852;20431304;20538296;21695352 10225288;10588445;10822232;10855685;10867102;10882736;10899511;10956553;11116141;11150646;11387328;11410113;11463574;11463752;11502838;11511315;11562782;11571480;11712085;11744163;11774814;11879669;11905404;11921362;11921363;11956648;11972292;12036966;12137974;12189226;12193565;12220731;12324915;12375542;12376296;12379507;12383875;12477932;12484513;12529288;12534591;12565880;12566732;12579522;12601625;12630817;12630823;12630824;12643861;12646214;12660258;12667630;12684703;12687457;12716843;12720100;12753312;12763641;12782295;12805025;12835224;12853384;12903912;12907107;12920627;12969589;14517225;14534081;14612905;14671210;14714580;14715486;14720432;14725946;14759562;15016771;15044509;15192039;15194870;15242974;15300632;15336545;15361766;15489334;15527794;15531734;15544858;15613468;15665526;15677761;15684700;15702240;15711093;15758554;15761041;15788445;15866060;15902095;15908101;15917349;15974887;15976103;16097366;16115629;16154664;16221100;16256216;16270874;16322067;16356592;16416151;16517613;16596251;16609682;16622024;16797107;16815566;16821090;16854513;16963041;16964401;17022943;17053041;17290391;17307261;17327422;17384335;17388661;17584073;17719138;17766467;17922433;17941085;17952853;18000597;18080871;18081029;18240029;18371176;18401334;18463805;18615773;18657357;18692535;18705285;18708640;18929609;19010904;19126117;19166930;19210874;19212702;19247278;19253104;19306911;19323987;19346663;19564455;19610056;19616043;19623513;19627536;19636336;19706311;19738161;19823891;19847298;19913121;19932100;20016189;20151808;20216319;20467777;20534761;20628086;20686565;20691218;20713499;20798523;20854881;20942979;20954838;21050876;21075100;21094578;21350119;21408188;21458987;21558311;21558971;21721459;21725669;21791966;21798961;21830197;21839130;21889828;21909110;21909115;21957602;21994414;22070520;22087514;22102369;22178239;22400488;22406979;22456622;22608560;22628306;22801438;22818355;22859951;22880472;22881718;22885414;22932875;22960655;22971508;23002189;23017815;23088295;23199555;23258247;23269582;23356193;23381795;23445133;23450059;23478664;23562132;23583388;23634287;23638647;23653390;23663996;23688561;23711352;23722054;23793138;23880804;23894342;23936408;23954711;23969937;23984422;24037526;24060192;24100627;24147025;24169318;24457964;24519534;24623968;7688224;7745031;8074714;8076689;8137955;8387282;8524787;8687431;8742029;8774254;8885746;9145435;9357065;9535752;9578982;9620797;9768331;9916958 133 E9PL83;E9PML4;E9PQE6;E9PQT2;P35318 ABBA01061160;AC080023;AK312893;AMYH02024327;BC015961;BQ021632;BT006902;CH471064;CR541995;D14874;D43639;DQ143945;HI574294;HY105655;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;PAMP OTTHUMP00000231484;OTTHUMP00000231488;OTTHUMP00000231489;OTTHUMP00000231490;preproadrenomedullin;proadrenomedullin N-20 terminal peptide APPROVED protein-coding HGNC:259 00061 103275 REVIEWED 1605090 ADNP2 ADNP homeobox 2 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN cellular response to oxidative stress (ortholog); cellular response to retinoic acid (ortholog); negative regulation of cell death (ortholog); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; 2-methylcholine; all-trans-retinoic acid 18 18 18 q23 74639542 74670861 + 77866915 77898229 + 80109031 80140346 + 6480464 10048485;12477932;14702039;15489334;18029348;19322201;20598862;20936779;21139048;21888893;21906983;23000965 22850 H0YLN6;H0YM09;K7EPG1;K7ERT3;Q6IQ32 AB020670;ABBA01013903;ABBA01013904;AC090360;AC139100;AK022688;AK023032;AK292566;AMYH02035070;BC071589;CH471117;KC877689;NM_014913;XM_005266656 AAH71589;ABZ92222;BAA74886;BAB14180;BAF85255;EAW66646;EAW66647;NP_055728;Q6IQ32;XP_005266713 Hs.131915 1739239;2125318 D17S1639;RH65773 KIAA0863;ZNF508 ADNP homeobox protein 2;zinc finger protein 508 protein-coding ENSG00000101544 HGNC:23803 13822 VALIDATED 3499499 ADM5 adrenomedullin 5 (putative) FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; methyl methanesulfonate 19 19 19 q13.33 47061274 47063579 + 50191942 50194247 + 49688685 49690990 + 6480464 12477932;18434369;24250222 199800 C9JUS6 ABBA01032913;AC011495;AI937838;AL359598;AMYH02036326;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 HGNC:27293 VALIDATED 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 - 49505585 49547527 - 50888918 50930990 - 1580863;2312784;2312792;2312791;2312794;2312793;2312783;1358226;2312775;6480464;8699517 10037502;11123362;11935065;15886480;16938277;17720885;18199809;18414890 11013255;11780052;12477932;15489334;17081983;17345061;17474147;17878164;18029348;19471022;19923857;20562864;20598862;21139048;21150319;21252943;21647709;21888893;21890473;21900206;21988832;22554909;22586326;22939629;23752268;24457600;24531329;24816145;25027693;9872452 23394 E9PQK8;Q9H2P0 AB018327;ABBA01052790;AF250860;AK074926;AK314734;AL034553;AL080163;AMYH02037246;AMYH02037247;AW452644;AX081465;BC015554;BC075794;BC090933;BM998017;CH471077;DR006081;DR006382;NG_034200;NM_001282531;NM_001282532;NM_015339;NM_181442;XM_006723759 AAG47651;AAH75794;AAH90933;BAA34504;BAG37275;CAB45752;CAC33127;EAW75611;EAW75612;NP_001269460;NP_001269461;NP_056154;NP_852107;Q9H2P0;XP_006723822 Hs.293736;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;MRD28 ADNP homeobox 1;OTTHUMP00000031275;OTTHUMP00000031276;OTTHUMP00000165329;OTTHUMP00000229415;activity-dependent neuroprotective protein;activity-dependent neuroprotector homeobox protein APPROVED protein-coding ENSG00000101126 HGNC:15766 09793 611386;615873 REVIEWED 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 1 q32.1 176226082 176265774 + 203096833 203136533 + 203127705 203167405 + 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 11504952;11593763;11703426;15118671;15220221;15257174;15630442;16256246;16507638;17067559;17211253;17853654;17959644;18289533;18307414;18787037;19276628;19552053;20065990;20400685;20729330;21388992;2167912;8998253 10455026;10487528;10502296;10521440;10890919;11278325;11369591;11390975;11934694;12150791;12475223;12477932;12764156;12773115;12812995;12825092;12826838;12920396;12974671;1339301;14702039;14997566;1530647;15485865;15489334;1551861;16118787;16344560;16481441;1662665;16709961;16713569;17088462;17542617;17728764;17901362;18052973;18240029;18281812;18373090;18500760;18577758;18680557;18996102;19019012;19019667;19047957;19193874;19207864;19536175;19558453;19574994;19794965;19820430;19822392;19883624;19913121;19919976;20085598;20105183;20354569;20392501;20468064;20599769;20602615;20609566;20628086;21506953;21542986;21590734;21603615;21701065;21730968;21988832;22215671;22356216;22370739;22449383;22462821;22787201;22867902;23193172;23657626;23682121;23813214;2541503;2825071;7601478;7818494;8300646;8360491;8450977;8889548;9166747;9247966 134 B7Z1L9;B7Z379;P30542 AB004662;ABBA01027484;ABBA01027485;AC105940;AK095060;AK127752;AK289928;AK293647;AK295584;AK308733;AK316106;AMYH02002511;AY136746;BC026340;BT019854;BU740906;CH471067;CR541749;DA343445;DB171678;EF057066;GM047589;KC884744;L22214;NM_000674;NM_001048230;S45235;S56143;X68485;XM_005244899;XM_005244901;XM_005244902 AAA17544;AAB23388;AAB25533;AAH26340;AAN01272;AAV38657;ABM83304;ABM83305;ABM84210;ABM86518;ABM87615;ABO25743;AGS10022;BAA20433;BAF82617;BAG54566;BAH11555;BAH12115;BAH14477;CAA48503;CAG46549;CAV33768;EAW91465;NP_000665;NP_001041695;P30542;XP_005244956;XP_005244958;XP_005244959 Hs.77867 1744371;1775157;2168598 D1S1699;GDB:452605;SHGC-76157 RDC7 OTTHUMP00000039090;OTTHUMP00000039091;adenosine A1 receptor variant 1;adenosine receptor A1 APPROVED protein-coding ENSG00000163485 HGNC:262 00042 102775 REVIEWED 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 22 q11.23 8623253 8638061 + 24819565 24838328 + 24423597 24442360 + 1331525;1625367;1580863;1300262;1300261;2313805;4890366;4890380;4890362;4890358;4890361;4890364;4890386;4890367;4890370;4890383;4890376;4890378;4890363;4890385;6480464;6484113 11780065;15118671;15257174;16256246;16339780;16484904;17293374;17559837;17601796;17617618;17937935;18310516;18703794;19487932;19766783;19909990;20798237;9262401 10051547;10326835;10391209;10899090;10945659;10951119;10974209;11125033;11140838;11515749;11532976;11571652;11717194;11734617;11934694;12036966;12080047;12189203;12237741;12406340;12429726;12477932;12634474;12784121;12804599;12825092;12837758;12856413;12933819;1331670;1426003;14525968;14666117;14702039;14715520;15146197;15351206;15461468;15461802;15489334;15539641;15704067;15719154;15734651;15774265;15987888;16022683;16027149;16118787;16184606;16280366;16339847;16344560;16361356;16481441;1662665;16805430;16818375;16824773;16917093;16939974;16969271;17132707;17257240;17329997;17474152;17512749;17558310;17591446;17599669;17616786;17872970;18057956;18197085;18215030;18218631;18240029;18246094;18305461;18331682;1835521;18434504;18442791;18486613;18508500;18524886;18539621;18541693;18629431;18675812;18759349;18772204;18832607;18996102;19013155;19019012;19019667;19086053;19156168;19159073;19262506;19287996;19303140;19386617;19508402;19525944;19538256;19541651;19565319;19591938;19632986;19776336;19794965;19801629;19883624;19902562;19913121;19948975;20021407;20029460;20045081;20085598;20089670;20197060;20334879;20354569;20371613;20386734;20392501;20396431;20413899;20468064;20512606;20520601;20628086;20666933;20691427;20799992;20842321;20926384;21040702;21062422;21062644;21088442;21256133;21258856;21281405;21335481;21393508;21480628;21486776;21501622;21542986;21550361;21590734;21593763;21606452;21633321;21638125;21646447;21658325;21739164;21840298;21885291;21950736;21966389;22012471;22033526;22079667;22119961;22130015;22146575;22170367;22213163;22217884;22238572;22240468;22249219;22333316;22336631;22356216;22367999;22403020;22462821;22585593;22705363;22740769;22754043;22792196;22798613;22844517;22923002;22940476;22963436;23005256;23071116;23093781;23168167;23171222;23193172;23241554;23332182;23377438;23385980;23429888;23454349;23478188;23483627;23489072;23500543;23514445;23535492;23535933;23583199;23593569;23594931;23657626;23663495;23678995;23679925;23682121;23685887;23695433;23749290;23789814;23856527;23965991;24509856;24652540;24722188;2541503;7775460;7818494;8020991;8088373;8135838;8360491;8522976;8670304;8794889;9369973 135 A8K1F6;B3KVQ4;C9J0Z4;C9J3T2;C9JFS2;C9JQD8;P29274;S4R2Z8;S4R3A7;S4R429;X5DNB4 ABBA01055137;AK123058;AK289871;AK301420;AK312946;AMYH02038142;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;KJ534761;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;AHW56401;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;ENSG00000258555 HGNC:263 00043 102776 REVIEWED 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 + 64564516 64568239 + 62804756 62808479 + 6480464;6907045 12477932;14702039;15489334;17581819;20877624;21890473;22327514;22412388;22747683;23042114 84890 B3KXN9;Q96SZ5 ABBA01019491;AK027453;AK127694;AL049319;AL133417;AMYH02023195;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 HGNC:23506 12566 611392 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 - 73043708 73076126 - 72751367 72783785 - 737633;6480464;6907045 12477932 11230166;14702039;14975750;15489334;16169070;16303743;16344560;16713569;19309449;19903754;19946888;20379614;21963094;22219026;22939629;23263486;23799003;24654937 83440 H3BN66;H3BRS6;H3BTH4;H3BU35;H3BUC3;Q9BRR6 ABBA01038721;AC009712;AF204270;AK055526;AK075560;AK293282;AK294391;AL136873;AL832254;AMYH02030765;BC006112;BC018074;BC044589;BE018185;CH471082;CR533447;CS051413;DA031990;DA208247;DB279245;NM_031284;NR_023318;NR_023319;XM_006720712;XM_006720713;XM_006720714;XM_006720715 AAH06112;AAH18074;AAL31473;ACE86460;ACE87141;BAB70941;BAC11699;BAG56809;BAG57646;CAB66807;CAG38478;CAH10598;CAI72201;EAW77914;EAW77915;EAW77916;EAW77917;EAW77918;EAW77919;EAW77920;EAW77921;NP_112574;Q9BRR6;XP_006720775;XP_006720776;XP_006720777;XP_006720778 Hs.654636 1754349;1855412;2174871;2174873;2185439;5022578;5037552 A005M18;D15S838;D1S1423;D8S2279;G20332;SHGC-132374;SHGC-24194 2610017G09Rik;ADP-GK;DKFZp434B195;rbBP-35 ATP-dependent glucokinase APPROVED protein-coding ENSG00000159322 HGNC:25250 12429 611861 VALIDATED 3129815 ADORA2A-AS1 ADORA2A antisense RNA 1 22 22 22 q11.23 8624901 8690519 - 24825178 24890783 - 24429210 24494815 - 12477932;14702039;16344560;19726446 646023 P86434 ABBA01055137;ABBA01055138;AK091970;AMYH02038142;AMYH02038143;AP000355;BC045098;CH471095;DA917327;DB449907;HG512086;HG512087;HG512088;KF457378;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 ncrna ENSG00000178803 HGNC:37122 VALIDATED 1344356 ADORA2BP1 adenosine A2b receptor pseudogene 1 1 1 1 q32 183148612 183149913 + 209917720 209919021 + 209744375 209745676 + 7558011 137 ABBA01048215;AL022398;AMYH02002600;NG_000843 ADORA2BP APPROVED pseudo HGNC:265 INFERRED 6769553 ADPGK-AS1 ADPGK antisense RNA 1 15 15 15 q24.1 49953980 49969343 + 73075176 73090540 + 72782835 72798199 + 23263486 100287559 ABBA01038721;AC009712;AK127877;AMYH02030765;HG507217;KF456095;NR_040107 Hs.562587 RP11-361M10.5 APPROVED ncrna ENSG00000260898 HGNC:44144 VALIDATED 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 17 p12 15751524 15782216 + 15848231 15879210 + 15944917 15975896 + 1580863;6480464 10101031;11048721;11125033;11579381;11906291;12036966;12080047;12477932;12600879;12939345;1325798;15187156;15489334;1551861;15550390;15637124;15769552;16103269;16631311;16707627;16778150;17077301;17301835;17428235;17565009;18004767;18056839;18215420;18240029;18351132;18367727;18703227;18996102;19019667;19086053;19794965;19841638;19883624;19913121;19948975;20008542;20011598;20029460;20237496;20388705;20619442;20628086;20926384;21030693;21109603;21242513;21335481;21480628;21506953;21590734;21620804;21622827;21730968;21966389;21988832;22119961;22217884;22504483;22610502;22679008;22767505;22848385;22867902;22963436;23045479;23286920;23483055;23584256;23638125;23682121;23855769;24136993;24391213;24652540;7558011;7790006;7836474;8022409;9914161 136 P29275;Q2L7J7 ABBA01035665;AC006251;AMYH02033061;AMYH02033062;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 HGNC:264 15971 600446 REVIEWED 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 1 p13.2 110272892 110353227 - 112025970 112106602 - 111483348 111563977 - 1580863;1300263;6480464;8554872 10699369 11111832;11214319;11891221;12152652;12406340;12435805;12477932;12600879;12695530;12975309;14688204;14978250;15147729;15240539;15324660;15355922;15489334;15849244;16242072;16282197;16710414;16849509;17170310;17216675;17348028;17728764;18051367;18240029;18351132;18577758;18636149;18653544;18996102;19019667;19086053;19095736;19426966;19794965;19883624;19913121;20190146;20237496;20379614;20602615;20628086;20716228;20732875;21542986;21675873;21715680;21830157;21841534;22146575;22217884;22378888;22682496;22906537;23027555;23251661;23383108;23817552;23856527;24161786;2834384;7607699;8234299;8399349;8617363;8889548;9164961;9293494;9380026;9618527;9837869 140 H0Y6K0;H0Y7W7;P33765;Q5QNY8;Q6P2N6 ABBA01068397;ABBA01068398;AK313095;AL390195;AL391063;AMYH02001727;AY011231;AY136749;AY358644;BC029831;BC041707;BC064411;BM675096;CH471122;DB447202;GM047590;L20463;L22607;L77729;L77730;NG_032119;NM_000677;NM_001081976;NM_020683;S81868;X76981;XM_005270485;XM_005270486;XM_005270489;XM_005270490 AAA16365;AAA35949;AAB02790;AAD14378;AAG35155;AAH29831;AAH41707;AAH64411;AAN01275;AAQ89007;ABM83375;ABM86587;BAG35919;CAA54288;CAV33769;EAW56502;NP_000668;NP_001075445;NP_065734;P33765;Q6P2N6;XP_005270542;XP_005270543;XP_005270546;XP_005270547 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 HGNC:268 08984;12424 600445 REVIEWED 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 that require DTT for maximal activity, the human enzyme is DTT-independent. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, May 2014] 3 3 3 q13.31-q13.33 117707084 117717352 + 119298280 119308792 + 119579676 119589945 + 1580863;6480464 12070318;12477932;15489334;15546898;17207965;19407395;21044950;23602568;8349667;9193669 141 C9JZW7;P54922 ABBA01061581;ABBA01061582;AC073352;AK291787;AK304560;AK313369;AMYH02007502;BC020574;BC063883;BC074769;CH471052;L13291;NM_001125;NM_001291949;NM_001291950 AAA35555;AAH63883;AAH74769;ADQ31983;BAF84476;BAG36168;BAG65353;EAW79561;EAW79562;EAW79563;NP_001116;NP_001278878;NP_001278879;P54922 Hs.99884 1649583;2107817;2186587 ADPRH_8162;RH12819;STS-L13291 ARH1 ADP-ribose-L-arginine cleaving enzyme;OTTHUMP00000215216;OTTHUMP00000215217;OTTHUMP00000215218;OTTHUMP00000215219;[Protein ADP-ribosylarginine] hydrolase APPROVED protein-coding ENSG00000144843 HGNC:269 04359 603081 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 - 114076260 114107839 - 113421940 113453631 - 6480464 12070318;12477932;15057823;15489334;17207965 113622 Q8NDY3;X6RL45 AA430157;ABBA01019869;AJ313429;AL160251;AMYH02028744;BC009755;CH471085;NM_138430;NM_199162;XM_006719961 AAH09755;ADQ31850;CAC86114;EAX09208;EAX09209;NP_612439;NP_954631;Q8NDY3;XP_006720024 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 HGNC:21303 12431 610620 VALIDATED 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 + 36554453 36559533 + 36088852 36093932 + 6480464 12070318;12477932;14702039;15489334;16169070;16278211;16511307;16710414;17015823;17075046;17991898;18029348;21139048;22433848;24816145;8125298 54936 B7ZAN4;Q9NX46 ABBA01023317;AF212236;AJ313333;AJ427295;AK000453;AK223037;AK295283;AK316349;AL138787;AMYH02000775;AMYH02000776;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 HGNC:21304 12432 610624 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 8 p21.2 25568607 25685865 - 26605667 26727003 - 26747938 26869486 - 1559318;1580863;1625780;1625770;1625775;5508374;5688364;6480464;5688366;5688369;5688371;5688368;5688377;5688340;5688352;5688374;8554872 10841349;11454900;114750;12433595;15795180;16371063;16524515;16890732;17054657;19011682;19540213;20886573;20974230;21722710 10334511;10493934;10587338;10671514;10860850;11154706;11425010;12184796;12409310;12477932;12519093;12544508;12707939;12782672;1363873;14626446;15136785;15179408;15297446;15474515;15525470;15626751;15824464;15917235;15946947;16043131;16153395;16536786;16633140;16645408;16685204;16690783;16754659;16823803;17075692;17408692;17556657;17655760;17681068;17972277;17973108;18240029;18257748;18331634;18351393;18413308;18523139;18524654;18821565;18996102;19086053;19095219;19102884;19105822;19322003;19352218;19444285;19476811;19520158;19565482;1970822;19730237;19763272;19874574;19913121;19918262;19919991;20004544;20044737;20129829;20173430;20379614;20628086;20705341;21063774;21223784;21262225;21519279;21571945;21738688;21792097;21982020;22037178;22089237;22091949;22952603;23460120;23717684;23877383;23902938;7737411;7805763;7815325;8024574;8183249;8396931;8564208;8832064;9359081;9490024 148 B0ZBD3;E7EW16;P35348 AB065703;ABBA01005577;ABBA01005578;ABBA01005579;AC015564;AC022839;AC091675;AF013261;AF395806;AK289548;AMYH02017665;AX136026;AX137523;AX646449;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;XM_005273414;XM_006716292;XM_006716293 AAA18783;AAA93114;AAB59486;AAB60353;AAC06138;AAD14205;AAH95512;AAK77197;AAQ91331;AAR84644;AAR84645;AAR84646;AAR84647;AAR84649;AAR84650;ACA05899;ACA05901;ACA05903;ACA05905;ACA05907;BAA04960;BAA06900;BAA06901;BAC05926;BAF82237;CAC39680;CAC39900;CAD69352;EAW63569;EAW63570;EAW63571;EAW63572;NP_000671;NP_150645;NP_150646;NP_150647;P35348;XP_005273471;XP_006716355;XP_006716356 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 11;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 HGNC:277 00081 104221 REVIEWED 1604325 ADPRM ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent ENCODES a protein that exhibits ADP-ribose diphosphatase activity (inferred); CDP-glycerol diphosphatase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH atrazine; copper atom; copper(0) 17 17 17 p13.1 10631781 10645729 + 10600927 10616264 + 10697610 10712947 + 6480464 12477932;16344560;18352857;19460752;21963094;24816145 56985 Q3LIE5;V9GYR6;W0NWJ0 AB073393;ABBA01054979;AC002347;AF168715;AK292629;AMYH02032969;BC001294;BC070155;CH471108;DA280275;DA305828;KC877634;KF880964;NM_020233;XM_005256738;XR_243561;XR_243562 AAF87317;AAH01294;AAH70155;AHG56452;BAE45723;BAF85318;EAW89995;EAW89996;NP_064618;Q3LIE5;XP_005256795 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 HGNC:30925 17473 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 20 p13 4266123 4294513 - 4201278 4229659 - 4220631 4249012 - 1559318;1580863;5508374;6480464 11454900;15795180 10820200;10860850;10969806;11780052;12184796;12409310;12442007;1359975;14626446;14736874;15123239;15297446;15525470;15690361;16533813;1656955;16754659;17384146;17404580;17660397;17681068;17973108;18187928;18240029;18257748;18468998;18628404;19086053;19212140;19322201;19458937;19913121;20628086;21063774;21115837;22889411;23205498;23551011;23877383;7746284;7815325;8024574;8039425;8125015;8183249 146 B0ZBE0;P25100 ABBA01053850;ABBA01053851;ABBA01053852;AL121675;AL357040;AMYH02036621;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 HGNC:280 00079 104219 REVIEWED 731080 ADRA2B adrenoceptor alpha 2B This intronless gene encodes a seven-pass transmembrane protein. This protein is a member of a subfamily of G protein-coupled receptors that regulate neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. [provided by RefSeq, Apr 2014] 2 2 2 q11.1 91219432 91222707 - 96778623 96782281 - 96112875 96116149 - 1559314;1559315;1559313;1580863;1300265;2313541;2313542;2313545;2313548;2313543;2313544;6480464 10404816;12121839;12535806;14744925;15660746;17039423;17070424;17277585;17516297;18953403 10224112;10647009;11056163;11140838;11154706;11313909;11345359;11753579;12401126;12477932;12519093;12629104;12822042;12917501;12946937;15037199;15166301;15309292;15592690;15719258;15731590;15815621;15864122;15864138;15893292;15900214;15900285;15920038;16247508;16269962;16336817;16531006;16645408;16776624;16907703;17215105;17370102;17410123;17595424;17620957;17625217;17660814;18054844;18240029;18456256;18596718;18854756;18996102;19056576;19352218;19477270;19477404;19593211;19728989;19781422;19815603;19826083;19874574;20044737;20051907;20110158;20401689;20424170;20613626;20651814;20692245;20705341;20739228;21159032;21259387;21357695;2164221;2169434;2172775;2173582;21854681;21878072;21942960;21965191;22025613;22170367;22218095;22404651;22560155;22570080;22701600;22743060;22839581;23105096;23225885;23499426;23583499;24058067;24087960;24114805;24269973;2842764;3012234;9235896;9435676 151 A2RUS0;P18089 AA887330;ABBA01036597;AC092603;AF005900;AF316895;AMYH02004325;AY548167;BC133021;BC136537;BF475329;CH471207;CV806541;DQ057076;EU332847;KF573706;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 APPROVED protein-coding ENSG00000274286 HGNC:282 00086 104260 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 10 q25.2 106568388 106572263 + 112836790 112840665 + 111077032 111080907 + 1559309;1331525;1358368;1580863;1625183;6480484;6480273;6480479;6480481;6480482;6480483;6480488;6480464;6480487;6480106;2316628;6480490;6893571 10909127;12946573;15118671;16178932;16636200;17959985;19150055;19894027;19965390;20047711;20302880;20691504;21542970;21669254;21745713;21871540 10224112;10647009;10896916;10948191;10948198;10952463;11039642;11140838;11154706;11248750;11313909;11343863;11425010;11467765;11475011;11732925;11886485;11888275;12019440;12023679;12054508;12080184;12370125;12477932;12529373;12544508;12627476;12707939;12815749;12946937;1334200;1354394;1385431;15006432;15028622;15070958;15123239;15138209;15164054;15199368;15489334;15494033;15520832;15592690;15653687;15717291;15719154;15719258;15782186;15795790;15824464;15920038;15939803;16172611;16333651;16352729;16389583;16464220;16513442;16531006;16567612;16583406;16605244;16728691;1678390;1678850;16806103;16809338;16823803;16854373;16869226;16917924;17034020;17075692;17081983;17159089;17215105;17283289;17512307;17522710;17544870;17612790;17655760;17655843;17894416;17971028;18075481;18200436;18240029;18314873;18480058;1849485;18511740;18547701;18561481;18577758;18600088;18725220;18794646;18842695;18996102;19058789;19086053;19088492;19309415;19352218;19365399;19388931;19401164;19423370;19439247;19477270;19491387;19506906;19568979;19604092;19833115;19834535;19874574;19876010;19913121;19922756;20044737;20081858;20110357;20135061;20146095;20419449;20468064;20526338;20532885;20538960;20551163;20571754;20602615;20613626;20628086;20660048;20692245;20696855;20705341;20731965;20833658;20850464;20864182;20952631;21059181;21063237;21070505;21103886;21104443;21105277;21298412;21325151;21455730;21613201;2170371;21823169;22061269;22091949;22292987;22560155;22581228;22694918;22940547;23105096;23153004;23207081;23266789;23462695;23526671;23751900;23808549;24026714;24178896;24522021;24723553;2568356;2823383;6259160;7876239;7887906;8011430;8098045;8226727;8889548;9235896;9624180 150 P08913 ABBA01063019;AF262016;AF281308;AF284095;AF316894;AL158163;AMYH02023802;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;ALPHA2AAR;ZNF32 ADRAR;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 HGNC:281 00078 104210 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 5 q33.3 155374535 155430824 + 159343740 159400017 + 159916733 159985786 + 1559318;1580863;1625771;1625772;5508374;6480464;8554872 11454900;14581480;15795180;16095979 10652206;10820200;12023679;12184796;12409310;12477932;12644451;12695539;1328250;14626446;14736874;15174051;15220331;15297446;15525470;15690361;15824464;16297597;16352594;1662393;16645408;16754659;1706716;17220353;17365508;17681068;17973108;18240029;18257748;18336813;18523139;18577758;19058789;19086053;19334040;19910028;19913121;19919991;20379614;20468064;20538960;20628086;20816195;20857090;21063774;21223784;21224381;21298476;2154750;22019450;22723743;23052569;23061915;23717684;23793025;23877383;7815325;8024574;8183249;8617782;9353340;9481484 147 P35368 ABBA01044235;AC011343;AC068657;AC127458;AMYH02012590;AMYH02012591;BC136568;BC136569;BQ576306;CH471062;EU332831;L31773;M99589;M99590;NM_000679;U03865;XM_005265818;XM_005265819;XM_006714821 AAB59485;AAB60352;AAI36569;AAI36570;ABY87520;EAW61572;NP_000670;P35368;XP_005265875;XP_005265876;XP_006714884 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 HGNC: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 10 q25.3 109531177 109534039 + 115803806 115806667 + 114044047 114046908 + 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;8548468 10577992;11527135;12161655;14502278;15118671;15592645;1648674;16785856;17143192;17278011;18275933;18287209;18306009;19060223;19110970;19127141;19283893;19587314;19745105;19785950;20203292;20398560;20451506;20948559;20959119;21054861;21491159;21831645;8181801 10212248;10477438;10535961;10794544;10862778;10995758;11052857;11140838;11337934;11447084;11526121;11700307;11753577;11854867;11942593;12023679;12029453;12032746;12036966;12069593;12090746;12106601;12140284;12184796;12197595;12244098;12270132;12374873;12391161;12422153;12455717;12519093;12529373;12544508;12643891;12709726;12724327;12815745;12844134;12847069;12851615;12921807;14534524;14553962;14734649;14990580;15055253;15079793;15086532;15123239;15212591;15212839;15237695;15312808;15331590;15342173;15358775;15388645;15452121;15464701;15479221;15542284;15564877;15685248;15719258;15735607;15824464;15833937;15861037;15864115;15917856;15932670;16122377;16153393;16187973;16189366;16210433;16227135;16287427;16315032;16316992;16325708;16402084;16421173;16485781;16487965;16500896;16534528;16648137;16728691;16760361;16765375;16815314;16844790;16907703;16914520;16940053;16946993;16997396;17023080;17118120;17217681;17223428;17270896;17329986;17334644;17335470;17339538;17345787;17383306;17463065;17496726;17512307;17541557;17585213;17591269;17635183;17644825;17667029;17680533;17845930;17893006;17919552;17998459;18059082;18075464;18155231;18158268;18193079;18209576;18219297;18239290;18240029;18253135;18298953;18308161;18311486;18323523;18331634;18346809;18403719;18413308;18413560;18429752;18452871;18479335;18534365;18540901;18596718;18615004;18622236;18625943;18679149;18702937;18702968;18754404;18772317;18773997;18776959;18787115;18794726;18797399;18936436;18937294;18947427;18996102;19010176;19033826;19036891;19037712;19056576;19073901;19086053;19094446;19167638;19301767;19378229;19477404;19509284;19515093;19538012;19542315;19553224;19576569;19578796;19621046;19623647;19628119;19673943;19743955;19779464;19842931;19845516;19883298;19913121;19956635;20023040;20044737;20079238;20116105;20123316;20129829;20144152;20185488;20235788;20300048;20352314;20374546;20384459;20414837;20426789;20443839;20459474;20468064;20470286;20537417;20538960;20581797;20587416;20602615;20625396;20628086;20643254;20693591;20705341;20726983;20731869;20803192;20821015;20831043;20952631;21034538;21044781;21059181;21238583;21305273;21311897;21375401;21422729;21464135;21516734;21527343;2154750;21553224;21573230;21599570;21626217;21807569;21847570;21878665;21909110;22192668;22253823;22299391;22306453;22340652;22378779;22388998;22447021;22495925;22617224;22703382;22723743;22742717;22811559;22815685;22994654;23060133;23065660;23114278;23115322;23202124;23223178;23257656;23261005;23266473;23271137;23275278;23318885;23351074;23370410;23533220;23588958;23729404;24121510;24151242;24324269;24332148;24334028;24342311;24371822;24437165;24466231;2465637;24885710;2536864;2825170;6305985;7583452;8892658;9843378 153 P08588 ABBA01062983;AF169006;AF169007;AF272890;AL355543;AMYH02023847;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 HGNC:285 00181 109630;607276 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 8 p12 36772222 36775893 - 37820513 37824184 - 37962995 37966666 - 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;8554872 10421225;10582543;10930169;10981554;11014217;11229427;11273992;11803250;11882399;12161655;12739037;15118671;15318095;15743038;16444766;16634992;17299491;17440948;17727676;17999941;18492028;19158405;19373220;19659999;19785950;20123316;20203292;20536507;20739470;20808804;21054861;21285172;21549119;7609752;8011597;9126344;9313761;9867224;9892244 10391210;10786926;10805511;10999801;11013230;11093283;11095426;11147800;11206402;11213599;11244458;11287026;11288809;11315829;11380082;11434877;11439286;11466580;11522702;11532330;11573151;11576322;11592045;11699048;11706779;11716317;11743056;11743057;11769635;11798745;11808891;11854867;11872697;11875710;11949887;11984699;12008746;12036966;12037740;12062855;12082592;12133431;12164325;12169859;12241539;12370850;12406043;12410955;12411100;12442007;12453902;12477932;12544508;12561621;12568179;12629568;12647276;12670949;12690078;12709137;12732844;12739018;12824951;12917707;12962933;1336117;14506613;14510956;14671190;14690019;14708035;14713387;14715679;14739355;14742851;14747257;15042014;15061987;15079793;15123695;15166301;15179018;15192823;15193960;15302798;15334374;15334382;15340101;15355441;15464701;15472194;15479221;15489334;15489932;15536594;15543217;15563584;15585565;15613846;15641247;15670186;15751274;15824464;15833937;15915764;15917856;15932670;15939803;15942638;15956122;15959859;16009000;16027735;16054001;16276029;16286518;16301818;16320158;16344560;16369102;16408483;16449022;16493638;16648810;16715838;16779985;16820065;17046546;17087055;17124363;1718744;17190106;17225053;17264845;17270896;17299381;17342473;17345787;17345789;17378367;17439327;17445027;17476189;17512307;17591269;17616777;17624182;17626108;17631141;17640319;17785925;17786291;17852419;17910280;17940985;17989355;17998022;18054709;18088254;18239290;18240029;18249022;18249219;18273796;18311486;18331634;18335327;18393130;18422027;18426866;18441513;18482921;18484422;18510051;18513389;18574485;18611262;18617734;18625943;18636124;18704193;18724972;18753860;18820136;18852493;18936436;18940396;18996102;18996293;19026982;19056576;19080138;19099777;19131662;19193342;19263529;19271249;19295193;19367093;19420105;19479237;19491387;19553224;19565482;19576569;19578796;19587357;19779464;19842096;19913121;20008926;20044737;20069060;20078877;20144152;20384434;20401689;20410100;20449541;20459474;20467565;20468064;20503258;20602615;20628086;20662153;20686326;20705341;20730725;20735409;20803423;20831043;20953633;21033077;21034552;21085551;21358132;21529759;21878665;21940308;21959333;21992420;22306453;22430195;22550477;22609474;22692629;22743651;22774401;22774474;22972489;23032405;23113754;23235150;23282015;23292548;23360304;23388888;23454374;23640967;23729572;23736006;23907236;23968135;24138564;24190960;24201118;24556804;24741957;24885710;25059067;2570461;7565630;7609625;7898940;8288218;8380813;8389293;8389717;8641219;8721782 155 A8KAG8;P13945 ABBA01023564;AC144573;AK293033;AK309919;AK313857;AMYH02017820;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 HGNC:288 00188 109691;601665 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 4 p16 3671112 3673097 + 3768296 3770253 + 3766569 3768526 + 1300355;1580863;6480464;6893568;6893571;7240710 12374873;12946573;20007733 10196213;10224112;10647009;10801795;10945659;11140838;11154706;11313909;11317218;12210281;12477932;12946937;1349607;15319474;15345481;15542284;15592690;15683753;15719258;15861038;15920038;15946904;16187973;16299019;16407897;16464220;16531006;16569551;16605244;16636200;17075692;17192578;17215105;17223428;17351367;17383306;17496726;17644575;17655760;17971028;18071056;18075481;18240029;18308161;18320080;18435421;18487435;1849485;18511740;18577758;18698227;18702968;18776959;18794726;18835330;18947427;19167638;19309415;19352218;19423370;19444546;19477270;19477404;19742303;19874574;19880803;20128806;20398908;20613626;20692245;20705341;21041608;21298476;22040172;22503931;22560155;23275278;23868076;2842764;7688069;8188260;9235896;9371698 152 D6RGL0;P18825;Q4W594 ABBA01029458;AC141928;AF280399;AF280400;AMYH02008638;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 HGNC:283 00085 104250 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 22 q12.1 9765035 9929436 + 25960861 26125259 + 25564894 25729294 + 1580863;632163;5133417;5147387;5685025;5685027;5685029;5685370;6480464;6484113;6907045;7207060;8554872 1403099;15637145;16304060;16484629;17996024;19400979;19728039;20677219 10085131;10591208;10754297;11060299;11517230;11668182;11762794;12130708;12477932;12808434;14702039;15087239;15498832;15728711;17106420;17621168;18029348;18075471;18274673;18359007;1869533;19086053;19766236;19913121;20216086;20379614;20398908;20468064;20596523;20628086;20734064;21139048;21784156;21916780;22086906;22505724;22623531;23455922;23734232;24434559;24816145;7695743;8427589;8662816;9826657 157 H7C099;P35626;Q8N433 ABBA01055180;ABBA01055181;AK055687;AK058103;AK123767;AK124922;AK292234;AK310398;AL022329;AMYH02038158;AMYH02038159;BC021221;BC029563;BC036797;BC063545;BX387339;CH471095;NM_005160;X69117;XM_006724158 AAH36797;BAF84923;CAA48870;EAW59698;EAW59699;EAW59700;EAW59701;NP_005151;P35626;XP_006724221 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 HGNC:290 00183 109636 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 11 q13.1 64377313 64386599 + 67033905 67054029 + 67266434 67286558 + 1580269;737775;1580863;632163;1625784;1625786;1625788;1625789;1625791;737776;1625790;4140391;5133417;5688380;5688373;6480464;5688378;5685370;6484113;6907045;7207470;5135529;7207060;8549590 10094932;10642272;11331748;1403099;15097244;15637145;15994203;16142243;16304060;16478977;16849637;17256744;17996024;18662895;19110970;19229505;19395963;23759942;9618528;9931137 10085129;10085131;10091590;10379886;10467231;10574913;10617630;10722682;10727525;10744734;10754297;10852916;10858453;10861009;10884381;10896954;11040053;11042191;11278469;11309381;11517230;11762794;12107237;12123746;12130691;12130708;12163475;12351722;12379128;12381737;12435819;12456365;12477932;12486133;12507501;12552191;12624098;12639913;12679936;12750365;12885252;1339451;14557268;14654844;14729942;14997482;15051637;15271984;15471870;15489334;15542600;15569306;15618519;15620700;15653687;15778405;15843435;15870073;15919661;16077899;16081410;16091361;16094730;16121194;16356165;16605244;16725308;16920721;16984558;17000469;17006543;17008309;17055984;17102134;17146290;17276003;17482545;17544362;17548351;17893145;17986524;17998459;18369319;18425130;18451066;18463167;18511496;18854154;18976975;19257866;19292735;19306925;19338266;19400979;19487588;19620130;19815545;19846537;19906838;19913121;19946888;19953087;20080565;20335112;2037065;20443852;20443948;20460384;20468064;20493668;20501412;20627936;20628086;20684281;20696855;20730384;20807772;20814022;20861385;21081496;21127457;21283592;21357420;21464134;21473908;21705320;21784156;21890473;21900206;21940795;21952200;21983013;21988832;22089113;22193721;22196842;22375000;22505724;22589388;22731384;22735336;23029581;23076141;23082996;23139825;23208013;23221335;23312955;23362259;23455922;23460259;23467820;23494575;23689525;23705503;23734232;23904266;23940030;24064210;24135140;24169548;24465168;24654937;24812353;24816145;7836371;7876239;8195124;8662816;8885248;9211925;9446593;9501202;9826657 156 E9PRV7;P25098 AB209588;ABBA01024041;ABBA01024042;AI888604;AK131506;AMYH02024989;AMYH02024990;AMYH02024991;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 HGNC:289 00182 109635 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 22 q13.2 24544565 24564639 + 40742504 40762577 + 40346500 40366573 + 1598762;1598766;1598760;1580863;5135488;6480464;6907045;7240710;8554872;8699517 20005278;2937404;3360219;3690833 10090474;10591208;10888601;10958654;11256614;11428554;12016589;12368987;12477932;12590570;12833398;1302001;15342556;15461802;15471876;15489334;15571235;1574589;16196087;16973378;17188615;18029348;18524658;18649008;19405474;19570815;19615732;20177786;20562859;20877624;20933180;21110914;21139048;21890473;21906983;21963094;21988832;22180458;22505724;22812634;22863883;22939629;23714113;24722188;24816145;8125298;8366112;8404037;9195976;9266401;9545543 158 P30566;V9GY96;X5D8S6 ABBA01055600;ABBA01055601;ABBA01055602;AF067853;AF067854;AF106656;AK225042;AK291091;AK298187;AK300705;AK308662;AL022238;AMYH02038403;BC000253;BC018881;BP298407;CH471095;CR456368;KJ534763;KJ535007;KJ535020;KJ535041;KJ535056;NG_007993;NM_000026;NM_001123378;S60710;X65867 AAC21560;AAC21561;AAC60603;AAC83935;AAH00253;ABM84252;ABM87641;AHW56403;AHW56646;AHW56659;AHW56680;AHW56695;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;ASL ASASE;OTTHUMP00000199172;OTTHUMP00000199173;adenylosuccinase APPROVED protein-coding ENSG00000239900 HGNC: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 20 q13.33 57613180 57619071 + 60877112 60884206 + 62302056 62308862 + 1580863;6480464;8554872 10919708;11780052;11818576;12477932;14702039;15489334;15819879;16196087;16501559;16713569;16815440;16906146;16990800;17081983;17139257;17323924;17573772;18029348;18162577;18497817;18497827;18615678;18781797;18922472;18939944;19013454;19148532;19193609;19615732;19781552;19815544;19818731;20029029;20059542;20137344;20417181;20471946;20634424;20639865;20959455;20972266;21139048;21191146;21432940;21832049;21890473;21906983;21963094;21987572;22053931;22057889;22118674;22505724;22576803;22797925;22863883;23000965;23153250;23503661;23535732;24429290;24654937;24752541;24811749;24816145;25015289;8033103 11047 Q16186 ABBA01040097;AK054985;AK297567;AK307459;AL354836;AL558522;AMYH02037419;BC003059;BC010733;BC017245;BC093021;BG337785;BR000321;CH471077;CR749213;D64154;HY029018;HY178253;NM_001281437;NM_001281438;NM_007002;NM_175573;XM_005260257 AAH10733;AAH17245;ABM84246;ABM87634;BAA11023;BAG59959;CAH18070;EAW75375;FAA00246;NP_001268366;NP_001268367;NP_008933;NP_783163;Q16186;XP_005260314 Hs.90107 1690854;2135518;5113030 RH17482;RH79208;RH91973 ARM-1;ARM1;GP110;MGC29536;Rpn13;hRpn13 110 kDa cell membrane glycoprotein;M(r) 110,000 surface antigen;OTTHUMP00000031471;adhesion-regulating molecule 1;proteasomal ubiquitin receptor ADRM1;proteasome regulatory particle non-ATPase 13;regulatory particle non-ATPase 13;rpn13 homolog APPROVED protein-coding ENSG00000130706 HGNC:15759 06440 610650 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 5 q31-q32 144288206 144290248 + 148206156 148254628 + 148826593 148828634 + 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;8548519;8548470;8548533;8548468;8548529;8548489;8548488;8548492;8548486;8548508;8548487;8548494;8548498;8548530;8548467;8548469;8554872 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3676;20201926;20210814;20215008;20230274;20235788;20237834;20300048;20308035;20335826;20345371;20352314;20374546;20384434;20395454;20395963;20399803;20401689;20413987;20416077;20424170;20431605;20452482;20459474;20467565;20468064;20503287;20515505;20519311;20519561;20521014;20523301;20536507;20537417;20537997;20538960;20544957;20546196;20559325;20565774;20602615;20603037;20628086;20673868;20682155;20686604;20703737;20705341;20708651;20726983;20727557;20734064;20736788;20738880;20739277;20803192;20816195;20829805;20831043;20885911;20929600;20930716;20981007;21034538;21038778;21044781;21054877;21059181;21183077;21200338;21215823;21228869;21228876;21233811;21233812;21262196;21289629;21298476;21330366;21337626;21362625;21385652;21394004;21406495;21414566;21426793;21436355;21448689;21450583;21481814;21483652;21488193;21541288;2154750;21573230;21599570;21600547;21605442;21621562;21622536;21626217;21703359;21722392;21772288;21801278;21807569;21816540;21829036;21857662;21868355;21868357;21868359;21883537;21889352;21905268;21916780;21956331;21959333;21963428;21964067;21990357;22010988;22031696;22048503;22075484;22115535;22167199;22179058;22190857;22192964;22194601;22210825;22241475;22267580;22297552;22299391;22328447;22383665;22399228;22416031;22441538;22447021;22466342;22483689;22495178;22500016;22552340;22559839;22582545;22584966;22613709;22624056;22628317;22647787;22683571;22731644;22742717;22743651;22748765;22763735;22772314;22793522;22796455;22821646;22862293;22864926;22881137;22883364;22884155;22900502;22948827;22950544;22985077;22994654;23020224;23056231;23151510;23166351;23229623;23229733;23236378;23243208;23245479;23261005;23266473;23267209;23302795;23318885;23330094;23374348;23384627;23438238;23448263;23463918;23515162;23527545;23548523;23548524;23557075;23631811;23724117;23729404;23760429;23786226;23798571;23879802;23911093;23936460;23964556;23989552;24003153;24012958;24016068;24056936;24190883;24206668;24228710;24279851;24322328;24342311;24366725;24373571;24561123;24614156;24621682;2470898;24714117;2471981;24722188;24727057;24760207;24823730;24831005;24885710;2540197;2541947;2564629;2823249;2831218;2837466;3025863;3034889;7608160;7680566;7706471;7797501;7901205;7915137;8125298;8308019;8383511;8386307;8557631;8662852;8892658;9228019;9235896;9399946;9507004;9560162;9671706;9819198;9830057;9880537;9924018 154 P07550;Q9BYZ0 AA886615;ABBA01026314;AC011354;AF022953;AF022954;AF022955;AF022956;AF169225;AF202305;AF203386;AK223025;AK313151;AMYH02012440;AY011291;AY136741;BC012481;BC063486;BC073856;CH471062;DA705141;DQ094845;HC295426;J02960;KJ534762;M15169;NG_016421;NM_000024;X04827;Y00106 AAA88014;AAA88015;AAA88017;AAB82148;AAB82149;AAB82150;AAB82151;AAD48036;AAF17569;AAF20199;AAG35451;AAH12481;AAH63486;AAH73856;AAN01267;AAY88739;AHW56402;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;adrenoceptor beta 2 surface;beta-2 adrenergic receptor;beta-2 adrenoceptor;beta-2 adrenoreceptor;catecholamine receptor 2289514;2289517 BW455_H;BW456_H APPROVED protein-coding HGNC:286 00187 109690;600807;601665 REVIEWED 1601680 AE01 uncharacterized LOC440670 1 q21.1 146401706 146420042 + 10574462;12477932;14702039;16079250 440670 AC026900;AL359176;XM_001717398 XP_001717450 KIAA1245;NBPF9 hypothetical LOC440670 APPROVED protein-coding 613999 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 + 105190534 105213662 + 104724197 104747325 + 5143928;5143930;1598762;6480464;6907045 10218106;2560335;3360219 11560929;12477932;14702039;15489334;1574589;15786719;21988832 122622 B3KTV4;G3V232;G3V2N1;G3V5D8;Q8N142;S4R2Z1 ABBA01002986;ABBA01002987;AK095921;AK096124;AK096720;AL583722;AMYH02029951;AY037159;BC032039;BC047904;BX248286;CH471061;NM_152328;NM_199165;XM_006720026 AAH32039;AAH47904;AAK67646;BAC04649;BAG53216;BAG53356;CAD62614;EAW81876;NP_689541;NP_954634;Q8N142;XP_006720089 Hs.592327 1854061;2132787;2132789 A001U22;G19662;SGC32943 FLJ38602;adSS 1 AMPSase 1;IMP--aspartate ligase 1;M-type adenylosuccinate synthetase;OTTHUMP00000244483;OTTHUMP00000244484;adenylosuccinate synthetase isozyme 1;adenylosuccinate synthetase, basic isozyme;adenylosuccinate synthetase, muscle isozyme APPROVED protein-coding ENSG00000185100 HGNC: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 1 q44 217861837 217905438 - 244571794 244615436 - 244408492 244452134 - 1580863;5143928;5143930;1598762;6480464;6907045 10218106;2560335;3360219 12477932;15489334;1574589;15786719;1592113;18029348;18469177;18721483;19115993;2004783;20562859;21139048;21145461;21890473;21906983;22505724;22863883;22939629;23000965;23251661;23455924;24816145;25015289;25027693;4436310;648524;8887278 159 P30520 ABBA01047198;AK025514;AK303886;AK308749;AL591594;AL645465;AMYH02003082;AMYH02003083;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;adenylosuccinate synthetase (Ade(-)H-complementing);adenylosuccinate synthetase isozyme 2;adenylosuccinate synthetase, acidic isozyme;adenylosuccinate synthetase, liver isozyme APPROVED protein-coding ENSG00000035687 HGNC:292 00050 103060 REVIEWED 1313849 ADTRP androgen-dependent TFPI-regulating protein FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (S)-nicotine; benzo[a]pyrene; cobalt dichloride 6 6 6 p24.1 12941888 13007296 - 11711505 11779861 - 11713655 11779628 - 6480464 12477932;14574404;14702039;15342556;15489334;16415175;20379614;21378986;21618603;21868574;21988832;23337689 84830 D6R9A9;D6RDG9;H0Y9P4;H0YAA5;Q96IZ2 ABBA01022105;AI147084;AI336841;AJ420520;AK123258;AK300919;AK310611;AK313114;AL022724;AMYH02013108;AMYH02013109;BC007011;BP330027;CH471087;DC388625;JA738637;JA738639;NM_001143948;NM_032744;XM_005249454;XM_005249455 AAH07011;BAG35936;BAG62551;CCF76971;CCF76972;EAW55304;EAW55305;EAW55306;NP_001137420;NP_116133;Q96IZ2;XP_005249511;XP_005249512 Hs.126409 1684818;1849452 RH48372;RH98426 AIG1L;C6orf105;MGC12335;RP3-413H6.1;dJ413H6.1 OTTHUMP00000016034;OTTHUMP00000016035;OTTHUMP00000221435;OTTHUMP00000221436;OTTHUMP00000221438;androgen-dependent TPF1-regulating protein;androgen-induced 1-like;hypothetical protein LOC84830 APPROVED protein-coding ENSG00000111863 HGNC:21214 12836 614348 VALIDATED 1601976 AEN apoptosis enhancing nuclease ENCODES a protein that exhibits exonuclease activity; INVOLVED IN intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; nucleic acid phosphodiester bond hydrolysis; response to ionizing radiation; FOUND IN nuclear membrane; nucleolus; nucleoplasm; INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 15 15 15 q26.1 65565411 65576403 + 89164527 89175512 + 88620927 88632281 + 6480464 12477932;14702039;16171785;17207965;18029348;18264133;18816836;20429933;21906983 64782 H0YMJ6;Q8WTP8 AB209323;ABBA01053000;AC013489;AF318330;AF327352;AK022546;AK022624;AK308119;AMYH02031006;BC005164;BC014407;BC020988;CA441442;CH471101;NM_022767;XM_005254966;XM_005254967;XM_006720644;XM_006720645 AAH05164;AAH14407;AAH20988;AAL55837;AAL56012;ADQ32293;BAB14091;BAD92560;EAX02009;EAX02010;EAX02011;NP_073604;Q8WTP8;XP_005255023;XP_005255024;XP_006720707;XP_006720708 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 HGNC:25722 08573 610177 VALIDATED 1353915 AEZ acrodermatitis enteropathica, zinc-deficiency type HGNC:308 1348567 AFA ankyloblepharon filiforme adnatum ASSOCIATED WITH Ankyloblepharon filiforme adnatum cleft palate (inferred) 7240710 170 HGNC:310 106250 1350331 AF8T AF8 temperature sensitivity complementing 169 HGNC:309 116950 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 19 p13.3 2987104 2997160 - 3052908 3062964 - 3052910 3063107 - 1580863;6480464 10395201;10660609;10748198;10825294;11266540;11390640;11416139;11748221;12030375;12050133;12358155;12441302;12477932;14702039;15006356;15057824;15489227;16002402;16169070;16713569;17353931;18438919;18854154;19322201;19460168;19460752;20163360;20676368;20936779;21139048;21245488;21890473;21906983;21937451;21963094;21987572;22354967;22505724;22863883;23000965;23546594;23732115;23840876;24722188;24816145;8365415;8889549;9809752;9887105 166 K7ELE3;K7ELQ8;K7EQH5;Q08117;Q8WY48 ABBA01002792;ABBA01002793;ABBA01002794;ABBA01002795;ABBA01002796;AC005944;AF072902;AF269289;AK094591;AK095154;AK314713;AMYH02035235;AMYH02035236;BC113735;BC113737;BG696926;BG913049;BM550097;BM908356;CH471139;N23852;NG_029870;NM_001130;NM_198969;NM_198970;U04241;U88832;X73357;X73358;XM_006722664 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;XP_006722727 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;gp130-associated protein GAM APPROVED protein-coding ENSG00000104964 HGNC:307 02556 600188 REVIEWED 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 + 44143960 44154164 + 44104361 44114565 + 1580863;6480464;8554872 10510298;11438679;12477932;12690205;14702039;15654748;16307171;16344560;18624398;19179605;19199708;20396415;20419060;22723309;22796454;22821744;24344132;8889548;8920928;9099699;9624159 165 C9JLQ8;H7C0W8;H7C1J5;H7C391;H7C3D7;H7C4B5;Q8IUX7 AB209744;ABBA01058215;AC006454;AF053944;AK090931;AK127541;AK296001;AMYH02015616;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 HGNC:303 04281 602981 REVIEWED 1352828 AFD1 acrofacial dysostosis 1, Nager type ASSOCIATED WITH Acrofacial dysostosis, Nager type (inferred) 7240710 171 HGNC:312 154400 1316303 AEBP2 AE binding protein 2 ENCODES a protein that exhibits metal ion binding (inferred); RNA polymerase II core promoter proximal region sequence-specific DNA binding (inferred); RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (inferred); INVOLVED IN chromatin modification (inferred); negative regulation of transcription from RNA polymerase II promoter (inferred); transcription, DNA-templated (inferred); PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN ESC/E(Z) complex; INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; cyclosporin A 12 12 12 p12.3 24745851 24829274 + 19592608 19675173 + 19439492 19522239 + 737633;6480464;9479059;8554872 12477932;24148750 10329662;12351676;15225548;16189514;16344560;16431907;18854154;19322201;21832049;21906983;21946350;23251661;23455924;24250222;24457600;24816145 121536 F5GZR7;G5EA50;H0YH08;H7BYT4;Q6ZN18 AA195771;AB209384;ABBA01067942;ABBA01067943;ABBA01067944;ABBA01067945;ABBA01067946;AC091805;AK025788;AK126973;AK131361;AK131410;AMYH02026137;AMYH02026138;BC015624;BC022220;CH471094;CX868393;DB244333;NM_001114176;NM_001267043;NM_153207;XM_006719031;XM_006719032;XR_242886 AAH15624;AAH22220;ABZ92093;BAD18513;BAD18557;BAD92621;BAG54413;EAW96398;EAW96399;EAW96400;NP_001107648;NP_001253972;NP_694939;Q6ZN18;XP_006719094;XP_006719095 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 ENSG00000139154 HGNC:24051 16477 VALIDATED 1606158 AFAP1L1 actin filament associated protein 1-like 1 FOUND IN cytoplasm; nucleus; plasma membrane; INTERACTS WITH aflatoxin B1; cyclosporin A; pirinixic acid 5 5 5 q32 144733389 144803357 + 148651401 148721368 + 149271838 149341805 + 6480464 12477932;14702039;16344560;17353931;21333378;21516130;23251661;23326307 134265 Q8TED9 ABBA01026306;ABBA01026307;AC012613;AC131025;AK074185;AK094067;AK095980;AMYH02012441;AMYH02012442;BC040723;BC125093;BC125094;BM998635;CH471062;DA792192;NM_001146337;NM_152406;XM_005268373 AAH40723;AAI25094;AAI25095;BAB85011;BAC04277;BAC04664;EAW61787;NP_001139809;NP_689619;Q8TED9;XP_005268430 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 HGNC:26714 16943 614410 VALIDATED 4107292 AFAP1-AS1 AFAP1 antisense RNA 1 4 4 4 p16.1 7657683 7682522 + 7755817 7780655 + 7754090 7778928 + 12477932;23333711 84740 ABBA01012755;AC004169;AC112254;AMYH02008687;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 ncrna ENSG00000272620 HGNC:28141 VALIDATED 6481098 AFF2-IT1 AFF2 intronic transcript 1 (non-protein coding) q26 100874269 AC002368;HG512730 ncrna HGNC:41334 1321706 AFAP1L2 actin filament associated protein 1-like 2 ENCODES a protein that exhibits protein tyrosine kinase activator activity; SH2 domain binding; SH3 domain binding; INVOLVED IN inflammatory response; positive regulation of epidermal growth factor receptor signaling pathway; positive regulation of interleukin-8 production; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH 4-nonylphenol; 5-aza-2'-deoxycytidine; arsenite(3-) 10 10 10 q25.3 109783766 109893772 - 116041248 116164515 - 114281494 114404778 - 6480464;8554872 11572484;12477932;14702039;15164054;15489334;15951569;16385451;16713569;17412687;18029348;20125193;20201926;21044950;21224076;21832049;22190283;22805860;22927913;22928011;23527086;24387290;24581082 84632 B7Z2Q0;F6QUH3;Q8N4X5 AB067501;ABBA01062978;ABBA01062979;ABBA01062980;AC005383;AF474151;AK123108;AK291712;AK294969;AK295538;AL133384;AL355302;AMYH02023850;AMYH02023851;AMYH02023852;BC016403;BC024314;BC033212;BC035713;CH471066;NM_001001936;NM_001287824;NM_032550;XM_005270233;XM_005270237;XM_005270239;XM_005270240;XM_005270241;XM_005270242;XM_006718036;XM_006718037;XM_006718038;XM_006718039;XM_006718040;XM_006718041;XM_006718042 AAH24314;AAH33212;AAQ05765;BAB67807;BAF84401;BAG53870;BAH11936;BAH12099;EAW49470;EAW49471;EAW49472;EAW49473;EAW49474;NP_001001936;NP_001274753;NP_115939;Q8N4X5;XP_005270290;XP_005270294;XP_005270296;XP_005270297;XP_005270298;XP_005270299;XP_006718099;XP_006718100;XP_006718101;XP_006718102;XP_006718103;XP_006718104;XP_006718105 Hs.501106 1338820;1339202;1681869;1697352;2113084;2171025 D10S1237;D10S1563;D10S1681;D10S2451;RH102174;RH91184 CTB-1144G6.4;FLJ14564;KIAA1914;XB130 AFAP1-like protein 2;OTTHUMP00000020527;OTTHUMP00000020528;actin filament-associated protein 1-like 2 protein-coding ENSG00000169129 HGNC:25901 13902 612420 VALIDATED 1317426 AFF1 AF4/FMR2 family, member 1 ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN positive regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Abnormality of blood and blood-forming tissues (inferred); Abnormality of metabolism/homeostasis (inferred); Autosomal dominant inheritance (inferred); FOUND IN transcription elongation factor complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; arsane 4 4 4 q21 85145587 85351225 + 87855758 88062206 + 86934606 87141054 + 1580863;6480464;8699517;8554872 10671636;11236948;11930009;12477932;1423625;14562113;14603337;14990976;15221006;15231748;15302935;15856011;16169901;16215946;16386788;16433901;16551973;17130830;17301807;17581865;17889710;18977325;19913121;19956800;20153263;20379614;20431927;20471949;20628086;20686565;20854876;20864672;21030982;21135858;21139048;21706045;21729782;21896721;21963094;22190034;22291604;22337994;22355797;22567366;22983539;23260655;23455922;23479570;23518577;23535033;23568457;23602568;24097068;24189350;24367103;7689231;8353274;8443374;8506309;8769569;9233580;9326653;9389682;9880680 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;AMYH02009663;AMYH02009664;AMYH02009665;AMYH02009666;BC017432;BC114930;CH471057;DC340279;L13743;L13773;L25050;NM_001166693;NM_005935;X83606;XM_005263007;XM_005263008;XM_005263009;XM_005263010;XM_005263011;XM_005263012;XM_005263013;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;XP_005263064;XP_005263065;XP_005263066;XP_005263067;XP_005263068;XP_005263069;XP_005263070 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);myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila), translocated to, 2;pre-B-cell monocytic leukemia partner 1;proto-oncogene AF4;translocated to, 2 protein-coding ENSG00000172493 HGNC:7135 08871 159557 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 2 q11.2-q12 94368402 94963584 - 100162326 100759037 - 99545864 100142575 - 1580863;6480464;8554872 12203795;12477932;12743608;14702039;15146197;15489334;15704140;15815621;17554260;18029348;18616733;18622426;19240061;19359276;20072139;20219786;20379614;20431927;20444755;20453842;20498205;20854876;21330300;22983539;23028342;23455922;23602568;24390342;8555498;8662235;8889548 3899 C9J622;C9J847;C9JC67;C9JIB1;C9JMS1;C9JUC4;C9JUY1;C9JZ66;H7C3W3;H7C4C2;P51826;Q8NAP7 AB209634;ABBA01073935;ABBA01073936;ABBA01073937;ABBA01073938;ABBA01073939;ABBA01073940;ABBA01073941;ABBA01073942;ABBA01073943;AC010736;AC018690;AC073118;AC092667;AC093373;AC114793;AC133108;AK055117;AK091320;AK092327;AK290468;AK297407;AK308645;AMYH02004405;AMYH02004406;AMYH02004407;AMYH02004408;AMYH02004409;AMYH02004410;AMYH02004411;AMYH02004412;AMYH02004413;BC021283;BC036895;BC136579;BC144266;BI906088;BU740375;CH471127;CN409428;KF456685;NM_001025108;NM_002285;U34360;XM_005263942;XM_005263943;XM_005263945;XM_006712523 AAA98763;AAH36895;AAI36580;AAI44267;AAY14792;AAY24187;AAY24278;AAY24315;BAC03864;BAD92871;BAF83157;BAH12572;EAX01854;EAX01855;EAX01856;EAX01857;EAX01858;EAX01859;NP_001020279;NP_002276;P51826;XP_005263999;XP_005264000;XP_005264002;XP_006712586 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 HGNC:6473 03272 601464 REVIEWED 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 X q28 147930060 148430864 + 147582139 148082193 + 148500619 149000663 + 1580863;6480464;7240710;8699517;8554872 10196698;10528856;10737800;10780779;10850542;10964075;11119302;11355014;12477932;12777533;1301146;15772651;17196195;17474147;18029348;19136466;19460752;20734064;21254876;21330300;21739600;22065534;22773736;23562910;7541938;7783162;8023854;8334699;8651274;8673085;8673086;8824884;8900249;9032643;9147647;9299237;9341861;9467002;9475603 2334 F8W6J4;P51816 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;AMYH02040751;AMYH02040752;AMYH02040753;AMYH02040754;AMYH02040755;AMYH02040756;BC132683;BC143740;BC143744;BI030785;CH471171;KF459474;KF459475;KF459476;KF459480;KF459484;KF510170;KF510172;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;MRX2;OX19 AF4/FMR2 family member 2;FRAXE;OTTHUMP00000024204;OTTHUMP00000024206;fragile X E mental retardation syndrome protein;fragile X mental retardation 2 protein;protein FMR-2 APPROVED protein-coding ENSG00000155966 HGNC:3776 02397 300806;309548 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 - 132211071 132299354 - 132875379 132963662 - 6480464 10588740;11355014;12065898;12477932;14702039;15489334;15856011;16189514;16344560;17081983;17389929;17643375;18029348;20153263;20159561;20379614;20431927;20471948;20471949;20854876;21139048;21242887;21330300;21360054;21729782;21873227;21906983;21963094;22094252;22190034;22355797;22483617;22567366;22779921;22952844;23000965;23087374;23251033;23455922;23471103;23518577;23602568;24163370;24816145 27125 C9JCE0;H7C319;Q9UHB7 AA706988;AB209547;ABBA01068790;ABBA01068791;ABBA01068792;ABBA01068793;ABBA01068794;AC004500;AC010240;AF161355;AF173886;AF197927;AF213987;AK024831;AK055638;AK126818;AK307407;AMYH02012220;BC025700;BC040454;BC063007;BC100287;BC137226;BC144538;BX537585;CH471062;DA934874;NG_030340;NM_014423;XM_005271963;XM_005271964;XM_006714587 AAF18981;AAF28915;AAH25700;AAH63007;AAI00288;AAI37227;AAM00184;AAQ13633;BAD92784;EAW62301;EAW62302;EAW62303;EAW62304;EAW62305;NP_055238;Q9UHB7;XP_005272020;XP_005272021;XP_006714650 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 HGNC:17869 09187 604417 REVIEWED 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 4 p16 7662306 7842025 - 7760440 7941653 - 7758713 7939926 - 6480464 10666339;11607843;11641786;12134071;12477932;14755689;15146197;15345747;16344560;16751776;17520695;18029348;21150319;23333711;7545969;9619827;9655255 60312 Q6ZRV0;Q8N556 AB209676;ABBA01008682;ABBA01008683;ABBA01008684;ABBA01012755;AC004169;AC097381;AC112254;AC141931;AC144451;AF188700;AK127962;AK290807;AK297631;AL706541;AMYH02008687;AMYH02008688;AMYH02008689;AMYH02008690;AMYH02008691;AMYH02008692;BC015900;BC032777;BI561136;CA448961;CH471131;CN308844;D25248;DA605903;DB450895;DQ585763;NM_001134647;NM_198595;XM_006713908;XM_006713909;XM_006713910 AAG17055;AAH32777;BAC87209;BAD92913;BAF83496;BAG60004;EAW82360;NP_001128119;NP_940997;Q8N556;XP_006713971;XP_006713972;XP_006713973 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 HGNC:24017 09747 608252 REVIEWED 1345129 AFG3L1P AFG3-like AAA ATPase 1, pseudogene INTERACTS WITH atrazine; copper(2+) sulfate; fonofos 16 16 16 q24.3 75104531 75132803 + 90038988 90067195 + 89972580 90000787 + 1580863;6480464 11549317;12477932;14702039;16344560;17101804;19578364;21555518;21832049;9545647 172 ABBA01014117;ABBA01014118;ABBA01014119;AC092143;AF329691;AF329692;AF329693;AF329694;AJ001495;AJ001496;AK056488;AK090856;AK091293;AK091727;AK097044;AK126911;AK127143;AK128352;AK128804;AL832984;AMYH02032689;AMYH02032690;BC021245;BC045753;BC077734;BM986843;DA707802;DB318727;KF459805;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 HGNC:314 04315 603020 VALIDATED 1313183 AFG3L2 AFG3-like AAA ATPase 2 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 18 p11 12209592 12258040 - 12328943 12377275 - 12328944 12377276 - 1580863;6480464;7240710;8554872;8699517 10395799;12477932;14623864;15489334;16169070;16251216;18029348;18769991;18854154;19615732;19748354;20186120;20208537;20301317;20354562;20562859;20725928;20877624;21080425;21139048;21595125;21827917;21832049;21890473;21900206;22022284;22252130;22268729;23000965;23602568;24250222;24457600;24814845;24816145;25027693 10939 K7EP56;Q8TA92;Q9Y4W6 ABBA01074016;AK129504;AMYH02034327;AMYH02034328;AMYH02034329;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 ATPase family member 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 HGNC:315 05205 604581;610246;614487 REVIEWED 1606470 AFMID arylformamidase ENCODES a protein that exhibits arylformamidase activity (inferred); hydrolase activity (inferred); INVOLVED IN 'de novo' NAD biosynthetic process from tryptophan (inferred); cellular nitrogen compound metabolic process (inferred); metabolic process (inferred); PARTICIPATES IN glyoxylate and dicarboxylate metabolic pathway; tryptophan metabolic pathway; FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 2-methylcholine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 17 17 17 q25.3 72779839 72799987 + 76183398 76203782 + 78185159 78207701 + 6480464;6907045 12477932;14704851;19322201;21048031 125061 K7EIX3;K7EK09;K7ELV9;K7EMI4;K7EMM5;K7EPF8;K7EQK5;Q63HM1;W4VSQ7 ABBA01002939;ABBA01002940;ABBA01002941;AC021593;AC087645;AMYH02034048;AMYH02034049;AMYH02034050;BC020920;BC132824;BC142973;BX648442;CH471099;NM_001010982;NM_001145526;NR_027083;XM_006721696;XM_006721697;XM_006721698;XM_006721699;XM_006721700 AAI32825;AAI42974;ACE86948;ACE87637;ADR82911;CAH56149;EAW89509;EAW89510;NP_001010982;NP_001138998;Q63HM1;XP_006721759;XP_006721760;XP_006721761;XP_006721762;XP_006721763 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 HGNC: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 4 q13.3 71707194 71729436 + 74347462 74369718 + 73481740 73504001 + 1580863;6480464;8554872 10400926;12063119;12463752;12477932;14760718;15489334;15952736;16199891;16335952;16740002;18976975;19046407;19336561;20858448;23535732;37276;4041902;7035619;7517938;7875606;8648639;8755513 173 P43652 ABBA01022992;AC108157;AC110752;AK290556;AMYH02009466;BC109020;BC109021;CH471057;L35486;L35497;L35498;NM_001133;U51243;XM_006714122 AAA68197;AAA68198;AAA68199;AAC50720;AAI09021;AAI09022;AAY41051;BAF83245;EAX05682;NP_001124;P43652;XP_006714185 Hs.168718 1340356;1678827;1794040;2142699;2163556 D4S1517;PMC310762P7;RH94242;SHGC-59867;STS-L32140 ALB2;ALBA;ALF;MGC125338;MGC125339 OTTHUMP00000160471;alpha-Alb;alpha-albumin APPROVED protein-coding ENSG00000079557 HGNC:316 00073 104145 REVIEWED 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 + 236402733 237040444 + 235494089 236131800 + 1580863;6480464;6907045;8554872 10470851;12388557;12477932;12640130;12967569;14702039;15381706;15892143;16079295;16341674;16751776;18003747;18954304;21832049;21900206;21926974;22453919;22688191;23667675;24722188 116987 B2RZG9;C9J8Z2;E7EUN2;F5GXM9;H7C0A7;H7C211;Q9UPQ3;X5D293 AB029022;ABBA01042565;ABBA01042566;ABBA01042567;ABBA01042568;ABBA01042569;AC012305;AC019047;AC064874;AC073989;AC079400;AF413078;AK001722;AK295520;AK300763;AMYH02006040;AMYH02006041;AMYH02006042;AMYH02006043;AMYH02006044;AMYH02006045;AMYH02006046;AMYH02006047;AMYH02006048;AMYH02006049;AMYH02006050;AMYH02006051;AY033765;BC060814;BC140856;BC167153;BC167157;BI868924;BM752978;CA446024;CB961699;CH471063;KJ534764;NG_030314;NM_001037131;NM_001244888;NM_014914;XM_005246058;XM_005246059;XM_006712234;XM_006712235;XM_006712236;XM_006712237;XM_006712238;XM_006712239;XM_006712240;XM_006712241 AAH60814;AAI40857;AAI67153;AAI67157;AAK56506;AAL04172;AAX88852;AAX88857;AAY14697;AAY24137;AHW56404;BAA83051;BAA91862;BAG58435;BAG62428;EAW71078;EAW71079;NP_001032208;NP_001231817;NP_055729;Q9UPQ3;XP_005246115;XP_005246116;XP_006712297;XP_006712298;XP_006712299;XP_006712300;XP_006712301;XP_006712302;XP_006712303;XP_006712304 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 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 APPROVED protein-coding ENSG00000157985 HGNC:16922 16359 608651 REVIEWED 5132512 AGAP1-IT1 AGAP1 intronic transcript 1 (non-protein coding) 2 2 q37.2 236413770 236416210 + 235505126 235507566 + 100506749 ABBA01042561;AC012305;AMYH02006041;BX111890;XR_108380;XR_133330;XR_171354 Hs.684184 ncrna HGNC:41427 MODEL 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 4 q34.3 175679083 175690820 - 178351928 178363657 - 177430774 177442503 - 1598773;1580863;6480464;7240710;8554872;8699517 1703489 10444340;11309371;12477932;1281977;1301945;14616088;15174051;1530592;15365992;15489334;15815621;16344560;16435229;1733831;1737774;1765378;18029348;1840528;1864600;18992224;1904874;19100247;2011603;2039475;21854356;22268729;2265705;23698163;24009623;2401370;2775174;6883788;7685790;7852406;8002961;8405810;8457202;8702913;8776587;8830180;8846222;8889548;9137882;9362483;9737998 175 H0Y8L9;H0Y9C7;P20933 AA490958;ABBA01070426;AC027627;AC078881;AK303370;AK312982;AMYH02010565;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;XM_006714123 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;XP_006714186 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 HGNC:318 01949 208400;613228 REVIEWED 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 4 q13.3 71661745 71681240 + 74301933 74321492 + 73436219 73455785 + 1300268;1580863;2292039;2292042;2292040;2292037;2292041;2292038;6480464;6484113;8699517;7240710 12297623;1714107;17525908;17659325;17932343;18203521;68943 11764100;11788893;11861398;12006569;12167706;12176010;12361680;12477932;12499776;12503217;12615827;12804197;12835590;1371512;14622304;14714299;15001643;15028291;15040024;15265907;15280901;15305374;15489334;15849812;15906357;15993394;16169070;16203738;16627685;16869888;16882993;16892178;1703124;1709810;17175353;17175354;17188819;17197899;17237442;17275497;17433605;17465484;17535089;17626741;17852813;18184471;18194454;18316609;18354237;18407604;18422961;18466288;18479159;18485897;18551609;18563566;18577995;18609108;18657899;18802946;19003875;19038010;19093203;19160651;19184104;19197197;19206006;19225928;19241193;19343004;19362088;19383238;19426602;19437037;19457604;19494365;19501957;19574883;19593583;19615732;19785658;19968979;20070666;20101856;20149523;20363333;20414942;20495646;20532728;20571936;20740583;20796153;21059290;21083609;21083802;21155886;21169258;21170957;21235824;21301972;21312197;21365646;21411977;21438004;21592114;21745284;21793906;21952001;21965270;21988832;22116493;22147961;22150277;22152641;22233759;22252180;22294840;22362471;22366528;22391642;22469729;22471500;22472323;22521346;22524824;22535689;22559879;22561245;22672818;22709874;22935208;23020232;23038230;23169148;23282286;23300138;23322323;23342486;23395581;23421992;23535732;23548745;23555170;23558072;23615710;23622526;23743582;23763371;23886200;23895043;24065238;24106406;24123097;2414772;24190142;24299318;24354994;2436661;24425104;2445387;24455683;24634927;2474300;2580830;4138095;6085063;6187626;6192439;6192711;6193792;70228;71198;7519015;7524678;7532927;7684942;80265;89900;9891062 174 J3KMX3;P02771 ABBA01022991;AC108157;AI336986;AK297669;AK297674;AK314817;AMYH02009464;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 AFPD;FETA;HPAFP OTTHUMP00000160480;OTTHUMP00000220440;alpha-1-fetoprotein;alpha-fetoglobulin APPROVED protein-coding ENSG00000081051 HGNC:317 00074 104150;615969;615970 REVIEWED 1606558 AFTPH aftiphilin ENCODES a protein that exhibits clathrin binding; INVOLVED IN protein transport (inferred); FOUND IN AP-1 adaptor complex; cytosol; INTERACTS WITH 1-nitropyrene; all-trans-retinoic acid; arsenous acid 2 2 2 p14 64597630 64666332 + 64751439 64820139 + 64524305 64593005 + 6480464 12477932;14665628;14702039;15302935;15489334;15758025;15811338;16344560;16964243;18029348;18815278;21900206;21988832;22990118;23000965;24250222;8125298;8889548 54812 B8ZZI9;Q53GW0;Q6ULP2 AA583062;AB073356;ABBA01075420;ABBA01075421;ABBA01075422;AC008074;AK000087;AK021899;AK024658;AK222821;AL833962;AMYH02003966;AMYH02003967;AY367088;BC022247;BC047529;BM668634;BX504505;CH471053;DA227019;DA815479;NM_001002243;NM_017657;NM_203437;XM_005264380;XR_244940;XR_244941 AAH22247;AAH47529;AAR14726;BAA90936;BAB13930;BAB14949;BAD96541;BAE45715;CAE46209;EAW99937;EAW99938;EAW99939;EAW99940;EAW99941;NP_001002243;NP_060127;NP_982261;Q6ULP2;XP_005264437 Hs.655167 1661358;1755355;1777096;1853950 A002Y40;A007I10;SHGC-142239;STS-AA034034 FLJ20080;FLJ23793;MGC33965;Nbla10388 OTTHUMP00000159936;OTTHUMP00000202186;OTTHUMP00000202187;aftiphilin protein;putative protein product of Nbla10388 protein-coding ENSG00000119844 HGNC:25951 10635 VALIDATED 3457950 AFG3L2P1 AFG3-like AAA ATPase 2 pseudogene 1 8 8 8 p11.1 42052060 42076817 - 43102346 43127103 - 43247203 43271960 - 347028 ABBA01021196;AC022616;AMYH02017915;NG_016585 AFG3L2P APPROVED pseudo HGNC:24169 INFERRED 1349982 AGAP10 ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); C60 fullerene (ortholog) 10 q11.22 47191765 47214915 - 6480464 728127 C9JUY9;Q5T2P9 ABBA01050038;ABBA01050039;AL391137;XM_006709937 CAI12206;Q5T2P9;XP_006710000 5111612;5113574;5124150 RH36848;RH40305;RH44360 CTGLF7;bA144G6.2 OTTHUMP00000019523;centaurin, gamma-like family, member 7 protein-coding HGNC:23462 MODEL 2301267 AGAP11 ankyrin repeat and GTPase domain Arf GTPase activating protein 11 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); ciguatoxin CTX1B (ortholog) 10 10 10 q23.2 82733499 82772961 + 88728239 88769960 + 86970741 87010203 + 6480464;8554872 11853319;12477932;14702039;16751776 119385 Q6P5Q0;Q8TF27 AB075855;ABBA01033689;AK097165;AL136982;AMYH02023488;AMYH02023489;BC140762;CH471142;NM_133447 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 HGNC:29421 VALIDATED 7244932 AGAP2-AS1 AGAP2 antisense RNA 1 12 12 12 q14.1 57777616 57779732 + 58120023 58122139 + 57726240 57728356 + 11181995;12477932;15146197 100130776 B7Z718 ABBA01026694;AC025165;AK301303;AMYH02026593;BC019026;BC039697;BC069024;CH471054;CN313469;NG_029755;NR_027032 BAH13454;EAW97052;EAW97053 Hs.656080 1645478;2168223 RH25384;STS-AA011041 ncrna ENSG00000255737 HGNC:48633 VALIDATED 1321839 AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); GTP binding (inferred); GTPase activity (inferred); INVOLVED IN cellular response to reactive oxygen species (inferred); GTP catabolic process (inferred); positive regulation of GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cell periphery (inferred); cytoplasm (inferred); intracellular (inferred); INTERACTS WITH 5-fluorouracil; calcitriol; kojic acid 7 7 7 q36.1 145341154 145398859 + 150782918 150841523 + 151085831 151144436 + 1580863;6480464;8554872 12477932;12640130;12690205;14506264;14702039;15381706;16344560;16461359;16964243;21139048;21890473;21906983;23904596;24255178 116988 C9J975;E7ESL9;H0Y873;H7C4F1;H7C4U6;H7C5G0;Q86ST5;Q86XV5;Q96P47 AACC02000108;AB209781;ABBA01035163;ABBA01035164;ABBA01035165;ABBA01035166;AC010973;AF359283;AF413079;AK027415;AK055393;AK091771;AK096352;AL442089;AMYH02017068;AMYH02017069;AMYH02017070;BC020426;BC037543;BC044644;BC048300;BC069236;BU615528;CH471173;DA771207;NM_001042535;NM_001281300;NM_031946;XM_005249942;XM_005249943;XM_006715849 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;XP_005249999;XP_005250000;XP_006715912 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 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 protein-coding ENSG00000133612 HGNC:16923 16707 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 12 q14.1 57776586 57793534 - 58117544 58135984 - 57723761 57742201 - 1580863;6480464;6907045;8554872 11136977;11823862;12388557;12477932;12640130;14528310;14702039;14761976;15118108;15489334;15951849;16079295;16150119;16263930;16344560;16841086;17037982;17151107;17297440;17461797;17891137;18029348;18187620;18371979;18374643;18469807;18487454;19176382;19318351;19946888;20368287;20551179;21460185;21833088;21847098;22349826;22389719;22505724;23438599;23527545;23770988;8724849;9192850 116986 F8VVT9;H0YHB1;J3KNM6;Q99490 ABBA01026694;AC025165;AF384128;AF413077;AK122827;AK292672;AMYH02026593;AV740795;AY128689;BC028020;BE280072;BI755875;CH471054;D79989;DB165417;NG_029755;NM_001122772;NM_014770;U81031;XM_005268625;XM_005268626;XR_245891 AAC39522;AAH28020;AAL04171;AAM97540;AAO39848;BAA11484;BAF85361;BAG53747;EAW97048;EAW97049;EAW97050;EAW97051;NP_001116244;NP_055585;Q99490;XP_005268682;XP_005268683 Hs.302435 1645478 RH25384 AGAP-2;CENTG1;FLJ16430;GGAP2;KIAA0167;PIKE;RP11-571M6.8;cnt-g1 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;phosphatidylinositol 3-kinase enhancer;phosphatidylinositol-3-kinase enhancer;phosphoinositide 3-kinase enhancer APPROVED protein-coding ENSG00000135439 HGNC:16921 05687 605476 REVIEWED 1344826 AGAP4 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred); INTERACTS WITH 17beta-estradiol; atrazine; cadmium atom 10 10 10 q11.22 42769421 42786619 - 46321040 46358501 - 45825592 45854808 - 737633;6480464 12477932 15164054;20139978;21248752;22990118 119016 K7ER91;Q96P64 AC012044;AC254107;AF411132;AL672187;AW089174;BC048341;BC062366;BC171833;CH471160;NM_001276343;NM_001291379;NM_133446;XM_005271797;XM_005271800;XM_006717619;XM_006717620;XM_006717621;XM_006717622 AAH48341;AAL10290;EAW86657;EAW86658;EAW86659;EAW86660;EAW86661;EAW86662;EAW86663;EAW86664;NP_001263272;NP_001278308;NP_597703;Q96P64;XP_005271854;XP_005271857;XP_006717682;XP_006717683;XP_006717684;XP_006717685 Hs.536192;Hs.656384 5111612;5113574;5124150 RH36848;RH40305;RH44360 AGAP-4;AGAP-8;AGAP8;CTGLF1;CTGLF5;MRIP2 ARF GTPase-activating protein;ArfGAP with GTPase domain, ankyrin repeat and PH domain 8;OTTHUMP00000019508;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 8;centaurin, gamma-like family, member 1;centaurin, gamma-like family, member 5;centaurin-gamma-like family member 1 protein-coding ENSG00000188234 HGNC:23459 16771 VALIDATED 1349976 AGAP6 ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); C60 fullerene (ortholog) 10 10 10 q11.23 42769418 42786891 - 51732867 51770259 + 49973136 50010499 + 6480464;8554872 12477932 414189 Q5VW22 AL442003;AMYH02023045;BC131545;NM_001077665;XM_005269836;XM_005269840;XM_005269841;XM_006717853;XM_006717854;XM_006717855;XM_006717856;XM_006717857;XM_006717858;XM_006717859 NP_001071133;Q5VW22;XP_005269893;XP_005269897;XP_005269898;XP_006717916;XP_006717917;XP_006717918;XP_006717919;XP_006717920;XP_006717921;XP_006717922 Hs.536158 5111612 RH36848 AGAP-6;CTGLF3;bA324H6.1 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 HGNC:23466 VALIDATED 1348213 AGAP5 ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred); INTERACTS WITH cadmium atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 10 10 10 q22.2 68735106 68740871 - 75434033 75464357 - 73674275 73697796 - 6480464 12477932 729092 A6NIR3;J3KQL4;U3KQ60 AC022400;AC073389;AMYH02023338;NM_001144000 A6NIR3;NP_001137472 Hs.651147 5111612;5113574;5124150 RH36848;RH40305;RH44360 AGAP-5;CTGLF2 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 HGNC:23467 VALIDATED 1353426 AGAP7P ArfGAP with GTPase domain, ankyrin repeat and PH domain 7, pseudogene ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH asbestos; cadmium atom 10 10 10 q11.23 42769421 42786619 - 51464151 51486327 - 46109495 46131671 + 6480464;8554872 653268 Q5VUJ5 AL589822;AMYH02023029;AMYH02023030;NM_001077685 NP_001071153;Q5VUJ5 Hs.528346 AGAP-7;AGAP7;CTGLF4;bA109G10.1 OTTHUMP00000019595;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7 pseudogene;centaurin, gamma-like family, member 4;centaurin-gamma-like family member 4;putative Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7 APPROVED protein-coding HGNC:23465 PROVISIONAL 7244440 AGBL1-AS1 AGBL1 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 15 15 15 q25.3 63249739 63261861 - 86840064 86860199 - 86296833 86316968 - 8554872 22961001;23400010 727915 ABBA01052977;AC025842;AMYH02030977;AMYH02030978;CD359326;DB459014;DB524499;HG507365;NG_033836;NR_046012 Hs.451281 RP11-31E22.1 ncrna ENSG00000260125 HGNC:48617 VALIDATED 1344869 AGAP8 ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred) 10 10 q11.23 42172068 42193907 + 51224667 51262116 - 6480464 12477932 728404 Q5SRD3 AL672187;NM_001077686;NM_001276343;NM_001276344;XM_005270113;XM_005270114;XM_005270115;XM_005270116;XM_005270117;XM_005270118 NP_001071154;NP_001263272;NP_001263273;Q5SRD3;XP_005270170;XP_005270171;XP_005270172;XP_005270173;XP_005270174;XP_005270175 Hs.536192 1689109;1766243;1780476;5111612;5113574 RH36848;RH44360;RH68500;SHGC-149602;stbA746L15SP6 AGAP-8;CTGLF5 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 HGNC:23464 VALIDATED 1348214 AGAP9 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred) 10 10 q11.22 48215724 48237508 + 47501854 47523638 - 6480464 12477932;14702039 642517 Q5VTM2 ABBA01020313;ABBA01020314;AC245513;AK096908;AK160375;AL591684;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 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 ENSG00000204172 HGNC:23463 VALIDATED 6481033 AGBL4-IT1 AGBL4 intronic transcript 1 (non-protein coding) 1 p33 49374201 49472085 - 100874313 ABBA01050790;ABBA01050791;AL356916;AL445527;AMYH02000983;AW071649;HG492008;KF495943;NR_046839 Hs.551277 RP4-795A5.1 ncrna HGNC:41482 VALIDATED 1606202 AGBL4 ATP/GTP binding protein-like 4 ENCODES a protein that exhibits metallocarboxypeptidase activity (ortholog); tubulin binding (ortholog); INVOLVED IN C-terminal protein deglutamylation (ortholog); protein side chain deglutamylation (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytosol (ortholog); INTERACTS WITH hydroquinone O-beta-D-glucopyranoside; kojic acid; lead(0) 1 1 1 p33 47284584 48775481 - 48998527 50489626 - 48532855 50023954 - 6480464;8554872 12477932;14702039;16710414;19240061;20379614;21074048 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;AMYH02000982;AMYH02000983;AMYH02000984;AMYH02000985;AMYH02000986;AMYH02000987;BC035739;BC126383;BC144171;CH471059;KF495931;KF495938;KF495939;KF495943;NM_032785;XM_006710986 AAI26384;BAB55053;BAG52938;BAG57648;BAG57812;BAG58944;EAX06847;NP_116174;Q5VU57;XP_006711049 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 HGNC:25892 07487 VALIDATED 1604170 AGBL3 ATP/GTP binding protein-like 3 ENCODES a protein that exhibits metallocarboxypeptidase activity; INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH formaldehyde; valproic acid; vincristine 7 7 7 q33 129408666 129558005 + 134671259 134820530 + 134986508 135135778 + 6480464;8554872 12477932;12853948;14702039;15489334;17244817;20379614;22610502 340351 F8W6Y5;F8W7R4;Q8NEM8 AA707617;ABBA01001112;ABBA01001113;AC083862;AC083870;AC090497;AK021841;AK023045;AK302827;AL832281;AMYH02016811;AMYH02016812;BC030651;CH236950;CH471070;KF510281;NM_178563;XM_006715961;XM_006715962;XM_006715963 AAH30651;BAB14371;BAH13813;EAW83837;EAW83838;NP_848658;Q8NEM8;XP_006716024;XP_006716025;XP_006716026 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 CCP3;FLJ12983;MGC32955 ATP/GTP-binding protein-like 3;OTTHUMP00000208040;OTTHUMP00000225513;cytosolic carboxypeptidase 3 protein-coding ENSG00000146856 HGNC:27981 14175 PROVISIONAL 1602682 AGBL2 ATP/GTP binding protein-like 2 ENCODES a protein that exhibits metallocarboxypeptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (ortholog); INTERACTS WITH aflatoxin B1; cyclosporin A; paracetamol 11 11 11 p11.2 47828422 47883671 - 47681143 47736928 - 47659486 47715376 - 6480464;8554872 12477932;12738998;14702039;15489334;18029348;20308539;21303978;8125298 79841 E9PI49;E9PJH3;E9PR59;E9PRJ1;E9PS54;F6U0I4;H9KV53;J9JIH1;Q5U5Z8 ABBA01060693;ABBA01060694;ABBA01060695;ABBA01060696;ABBA01060697;AC021443;AK027251;AK056687;AK223171;AK223176;AK303066;AK303875;AMYH02024737;AMYH02024738;BC028200;BC036234;CH471064;NM_024783;XM_005253138;XM_005253139;XM_005253140;XM_005253141;XM_006718326;XM_006718327;XM_006718328;XM_006718329;XR_242823;XR_242824;XR_428852 AAH28200;AAH36234;BAB15707;BAD96891;BAD96896;BAG64183;BAG64813;EAW67889;EAW67890;EAW67891;NP_079059;Q5U5Z8;XP_005253195;XP_005253196;XP_005253197;XP_005253198;XP_006718389;XP_006718390;XP_006718391;XP_006718392 Hs.147377 1655519;1677989;1716915 RH121749;RH48286;RH99144 CCP2;FLJ23598 ATP/GTP-binding protein-like 2;OTTHUMP00000229536;OTTHUMP00000229537;cytoplasmic carboxypeptidase 2;cytosolic carboxypeptidase 2 protein-coding ENSG00000165923 HGNC:26296 08039 VALIDATED 6481376 AGBL5-AS1 AGBL5 antisense RNA 1 2 p23.3 27049683 27050264 - 100874031 ABBA01045192;AC013472;AI038092;AMYH02003471;NR_046730 Hs.132725 APPROVED ncrna ENSG00000231636 HGNC:41133 VALIDATED 1605057 AGBL5 ATP/GTP binding protein-like 5 ENCODES a protein that exhibits metallocarboxypeptidase activity (ortholog); tubulin binding (ortholog); INVOLVED IN protein branching point deglutamylation (ortholog); protein deglutamylation (ortholog); FOUND IN cytoplasm; cytosol (ortholog); nucleus (ortholog); INTERACTS WITH 2-methylcholine; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 2 2 2 p23.3 27120838 27139834 + 27274291 27293490 + 27051623 27070622 + 6480464 11256614;12477932;14702039;16344560;16712791;18187620;19913121;20467438;20628086;24022482 60509 C9JCE1;C9JHM6;C9JQG9;C9JTY1;H7C1L5;Q8NDL9 ABBA01045192;AC013403;AC013472;AI990522;AK023398;AK025492;AK302091;AL833844;AMYH02003471;BC007415;BC018562;BC018584;BC062326;BC131498;CB155754;CH471053;DA901318;NM_001035507;NM_021831;NR_104246;XM_005264477;XM_006712058;XM_006712059 AAH07415;AAI31499;AAX93164;AAY14655;BAB14560;BAB15151;BAH13623;CAD38704;EAX00649;EAX00650;EAX00651;EAX00652;EAX00653;NP_001030584;NP_068603;Q8NDL9;XP_005264534;XP_006712121;XP_006712122 Hs.138207 1679487;2129913;2191009;2191449 MARC_12887-12888:999876636:1;MARC_23457-23458:1027109061:1;RH69213;RH80719 CCP5;FLJ21839 ATP/GTP-binding protein-like 5;OTTHUMP00000192904;OTTHUMP00000194458;OTTHUMP00000228571;cytosolic carboxypeptidase 5;cytosolic carboxypeptidase-like protein 5 protein-coding ENSG00000084693 HGNC:26147 07968 615900 VALIDATED 1345768 AGBL1 ATP/GTP binding protein-like 1 Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013] 15 15 15 q25.3 63086740 63973544 + 86623137 87572283 + 86142011 87029052 + 6480464;8699517;7240710;8554872 12477932;14702039;16344560;16543943;18347602;20379614;21074048;21448238;21993531;22041458;22703881;22961001;23400010;23594818;23870195;24094747;24204828 123624 J3KQF5;Q96MI9 ABBA01052977;ABBA01052978;ABBA01052979;ABBA01052980;ABBA01052981;ABBA01052982;ABBA01052983;ABBA01052984;ABBA01052985;ABBA01052986;ABBA01052987;AC012229;AC016180;AC016987;AC018950;AC022817;AC025842;AC069197;AC078905;AC107978;AK056872;AMYH02030975;AMYH02030976;AMYH02030977;AMYH02030978;AMYH02030979;AMYH02030980;AMYH02030981;AMYH02030982;AMYH02030983;AMYH02030984;AMYH02030985;AMYH02030986;AMYH02030987;BC128152;CH471101;DA695799;DV080155;DV080218;DV080486;DV080541;DY655391;DY655510;KF456116;NG_033836;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 CCP4;FECD8;FLJ32310;MGC149239 ATP/GTP-binding protein-like 1;OTTHUMP00000195714;cytosolic carboxypeptidase 4 protein-coding ENSG00000166748 HGNC:26504 07115 615496;615523 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 2 q36.3 222106500 222195457 + 228336853 228425938 + 227472137 227561222 + 1580863;6480464;8554872 10358091;10613896;10737800;11062555;11545741;11854271;12429849;12477932;14554087;14701878;14702039;15489334;15749819;15815621;16354571;16903783;17081983;18029348;18775314;18819912;19149558;19149559;19262425;19738201;20936779;21118098;21139048;21358275;21360055;21439320;21752912;21832049;21906983;22558309;22623428;22863883;22939629;23000965;23984888;24816145;7634337;7637788;8195203;8633082;8805303;8943370;9070945;9303539;9368759;9500467 3267 B8ZZY2;C9J2I0;H7C0S7;P52594 AA676544;ABBA01050181;ABBA01050182;AC097662;AC105286;AI742626;AI955214;AK097451;AK295030;AMYH02005921;AMYH02005922;BC030592;BC039332;BC045581;BC096272;BC096273;BC096274;BC096275;BE843894;BM474292;BQ016135;BX648387;CB990608;CH471063;DB456989;L42025;NM_001135187;NM_001135188;NM_001135189;NM_004504;X89478;XM_005246516;XM_006712478;XM_006712479;XM_006712480;XM_006712481 AAC37580;AAH30592;AAH96272;AAH96273;AAH96274;AAH96275;AAX93270;AAY24254;BAG53473;BAG58086;CAA61667;EAW70871;EAW70872;NP_001128659;NP_001128660;NP_001128661;NP_004495;P52594;XP_005246573;XP_006712541;XP_006712542;XP_006712543;XP_006712544 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 ENSG00000173744 HGNC:5175 02918 600862 REVIEWED 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 6 p21.3 33715793 33719070 - 32148745 32152099 - 32180968 32184322 - 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;7245568;7244134;7244141;7245947;8695985;8695986;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;8695980;8695978;8695984;8695958;8695961;8695988;8695973;8696008;8695992;8553040;8695991;8695968;8695998;8695965;8695966;8695979;8695983;8695990;8548676;8696004;8695995;8695975;8695981;8695994;8695997;8695989;8696001;8695971;8695959;8695967;8695969;8696000;8696002;7364865;8695964;8695960;8695962;8696003;8695970;8695982;8695987;5508765;8547935 10553500;11375354;11457670;11884895;12029499;12606536;12618340;12651605;12808450;12874465;14704946;14747204;15009731;15118671;15539404;15666359;15896660;16283249;16364297;16456142;16505177;16728681;16757496;16969646;17343756;17374970;18058469;18208974;18420491;18825489;19018797;19142024;19277685;19542745;19735169;19759273;19910580;20040351;20056977;20133931;20185929;20195207;20353610;20398646;20541603;20554645;20579752;20606421;20627935;20668462;20685687;20801062;20835270;21041689;21067572;21099228;21270403;21347371;21412218;21418204;21423669;21432860;21450080;21458563;21470837;21511691;21533139;21542009;21593432;21607631;21629785;21643645;21652096;21663912;21680901;21683770;21704028;21738623;21796806;21802905;21811803;21813211;21822023;21856399;21870072;21906738;21920897;21939913;21941211;21947243;21993476;22036861;22038096;22093994;22114731;22116960;22146151;22154374;22171162;22217518;22305260;22337222;22366088;22427038;22467055;22475522;22476978;22491548;22497255;22513366;22528836;22552116;22578261;22644855;22669512;22698798;22698914;22745485;22761461;22795565;22828946;22883037;22915134;22924807;23002359;23046363;23069071;23091285;23146804;23164356;23251674;23288172;23304218;23369670;23396166;23396398;23403079;23497312;23529380;23576805;23587252;23593165;23594597;23630304;23677242;23698784;23769041;23844137;23894457;23936343;24077211;24127697;24132651;24211797;24226635;24291733;24291745;24599045;24619131;24630381;24859607;25014009;25014011;8751438 10391939;10399917;10521570;10531386;10601334;10835680;11007787;11282423;11334430;11586486;11700025;11739380;11811511;11961018;12070776;12475402;12477623;12477932;12495433;12579287;12598893;12651613;12671312;12837757;12859967;12909002;12935895;12941744;1378843;14501001;14571699;14574404;14580673;14595542;14617629;14656967;15019601;15033494;15052533;15053925;15127201;15155381;15170618;15180953;15203887;15213278;15239215;15247020;15289604;15448098;15489334;15547674;15555779;15599399;15663911;15666591;15748606;15790669;15798956;15803111;15893388;15911356;15915542;15926115;15930093;15942078;15942086;15944249;15986224;16037279;16052547;16061848;16127291;16159602;16166741;16271939;16286548;16305072;16374460;16440015;16493495;16644647;16716307;16788244;16847147;16899960;16954185;16954682;16969649;17004092;17024691;17035340;17158877;17170388;17172923;17218539;17224333;17237617;17343760;17345061;17355942;17405935;17425804;17434489;17474147;17497647;17508727;17512509;17536039;17549666;17560613;17588956;17592553;17593216;17601350;17613396;17639302;17640970;17660747;17661837;17700210;17714874;17924846;18032526;18046662;18050248;18078623;18079485;18079965;18080716;18089847;18179750;18231794;18245812;18256374;18279703;18279705;18302220;18322992;18339893;18355449;18421017;18427074;18431028;18438937;18458846;18477569;18480271;18519797;18550199;18575614;18576917;18593464;18595673;18603587;18606705;18615900;18645306;18657529;18660489;18667420;18689872;18698218;18701333;18775683;18777492;18789567;18796298;18854308;18922799;18926539;18948101;18952609;18977241;18987644;19005067;19023628;19032093;19061941;19071026;19087540;19088375;19103440;19129693;19133252;19143681;19143821;19167759;19183936;19201044;19204726;19217461;19217891;19248116;19252206;19275767;19284577;19285601;19332646;19376511;19380603;19380826;19386136;19405075;19439163;19440065;19448391;19451748;19501570;19530996;19571577;19576587;19578796;19587357;19591173;19616266;19635564;19659809;19672558;19679874;19766904;19786934;19815443;19820033;19822091;19834494;19851445;19876719;19890027;19902324;19906677;19909734;19913121;19924100;19944695;19945761;19948975;19998499;20010834;20010835;20023238;20028692;20028726;20031245;20051912;20074734;20093728;20112183;20171262;20215707;20359119;20359471;20372816;20410680;20414834;20485444;20492604;20504772;20507991;20512925;20522598;20537326;20567859;20568058;20578941;20595148;20627100;20628086;20630999;20631986;20650982;20684319;20685137;20701913;20726326;20732329;20739563;20817881;20847094;20928981;20943659;20947022;21067489;21072897;21080832;21086782;21089112;21115116;21126167;21127710;21137019;21197704;21208063;21211520;21254649;21254849;21257730;21278261;21282351;21297263;21298413;21303685;21311028;21316677;21317562;21325454;21357189;21365018;21389696;21450369;21472666;21472688;21511948;21512281;21521347;21527578;21540233;21565706;21576827;21609778;21617715;21706016;21724696;21736957;21749686;21767223;21771973;21829704;21832049;21844192;21861709;21865159;21871056;21872861;21914366;21945853;21947881;21965014;21978883;21990362;22012330;22025532;22027013;22072229;22097731;22137663;22189627;22194616;22206663;22211895;22212601;22229442;22264245;22315985;22337892;22339587;22353366;22354095;22382005;22386596;22402134;22405771;22417726;22460069;22490537;22509024;22509345;22553402;22633675;22652038;22771726;22777515;22785051;22835520;22837190;22843047;22860017;22860029;22863784;22900949;22920235;22960399;22964273;22965881;22966766;22983919;22987041;22989605;23071492;23103427;23144152;23182709;23206470;23218576;23228658;23236395;23252485;23254359;23275625;23284291;23284645;23318458;23325627;23331756;23340902;23398829;23421467;23426492;23432638;23466064;23508966;23523633;23525442;23527722;23535732;23545311;23559480;23571222;23628898;23693020;23712703;23721855;23729200;23755764;23759926;23861159;23867237;23874853;23894685;23911608;23947473;23954397;23973487;23975852;24058542;24078092;24081950;24107402;24113348;24133579;24155913;24156267;24177755;24188108;24217195;24228009;24231387;24248547;24252909;24260107;24273313;24276448;24276462;24284407;24302816;24303504;24303922;24304868;24363518;24373844;24395344;24420130;24427342;24472555;24515114;24520905;24564838;24613454;24697697;24744309;24824951;24971542;24982031;25012910;25016700;7713518;7835890;7887450;8787669;8889548;9195959;9734395;9812979 177 A8MS87;B4DNX3;B5A982;C0IP14;Q15109;Q3L1R2;Q5SSZ2;Q5SSZ3 AB036432;AB061668;AB061669;ABBA01038108;AF001095;AF065211;AF065212;AF208289;AF536236;AF536237;AF537303;AJ133822;AJ238896;AK298100;AK313178;AL662830;AL662884;AL845464;AMYH02013469;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;KC692917;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;AHB30241;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;receptor for advanced glycation end-products variant 20;receptor for advanced glycosylation end products;receptor for advanced glycosylation end-products APPROVED protein-coding ENSG00000204305 HGNC:320 02568 600214 REVIEWED 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 + 100136834 100165843 + 100539211 100568220 + 1580863;6480464 10613896;12477932;12690205;14702039;15489334;19149558;19946888;21358275;21832049;22558309;7568168;8889548;9303539;9799793 3268 A4D2D6;H7BZA5;O95081 ABBA01013198;ABBA01013199;ABBA01013200;ABBA01013201;ABBA01013202;AC069281;AF015042;AK057758;AK090744;AK314954;AMYH02016382;AMYH02016383;BC009393;BC017329;BC047227;BF310674;BF314987;BU608908;CH236956;CH471091;NM_006076;XM_005250306;XM_006715958 AAD01550;AAH09393;AAH17329;BAG37459;EAL23829;EAW76522;EAW76523;EAW76524;EAW76525;NP_006067;O95081;XP_005250363;XP_006716021 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 HGNC:5177 04932 604019 REVIEWED 2881504 AGGF1P3 angiogenic factor with G patch and FHA domains 1 pseudogene 3 3 3 3 p12.3 76446336 76448467 - 75702601 75704732 - 75653450 75655581 - 391552 ABBA01030989;AC108724;AC245159;NG_022208 pseudo HGNC:38053 INFERRED 3302159 AGGF1P4 angiogenic factor with G patch and FHA domains 1 pseudogene 4 6 16 16 p11.1 67008523 67009364 - 34623574 34624415 - 35389203 35390044 - 100129351 ABBA01002115;AC007353;AMYH02031954;NG_022503 pseudo HGNC:38054 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 5 q13.3 72220718 72255361 + 76326210 76361059 + 77030385 77065234 + 737633;6480464;8554872 12477932 10737800;14702039;14961121;15486042;15489334;15905966;16189514;16443853;16911369;17103452;17332742;18564129;19556247;19615732;20360068;21576349;22365833;22990118;23628701;24462738;24816145 55109 H0Y8F8;Q8N302 ABBA01061975;ABBA01061976;AC008581;AI453097;AK001145;AK097255;AK289394;AMYH02011612;AMYH02011613;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;vasculogenesis gene on 5q protein APPROVED protein-coding ENSG00000164252 HGNC:24684 07621 608464 REVIEWED 3398757 AGGF1P1 angiogenic factor with G patch and FHA domains 1 pseudogene 1 4 4 q35.2 190962139 190965441 + 190040984 190044286 + 100132380 AF146191;AMYH02010728;NG_022094;U85056 1731663;2130080 D11S4416;D4S1620 pseudo HGNC:38051 INFERRED 3476565 AGGF1P2 angiogenic factor with G patch and FHA domains 1 pseudogene 2 10 10 q26.3 135455591 135456399 + 133642087 133642895 + 644435 ABBA01115473;AC245077;AL731696;NG_005569 1731663;2130080 D11S4416;D4S1620 pseudo HGNC:38052 INFERRED 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 + 141251078 141354209 + 141551278 141654409 + 6480464;8699517;7240710;8554872 12477932;12690205;12853948;14702039;15252046;15489334;15939762;16169070;16269826;16344560;17135245;18004883;19167051;19549252;20186120;20877624;21139048;21145461;21875946;21890473;21906983;22268729;22277967;22284826;22415731;22797925;22864860;23266196;23676499;24244333;24457600;24816145;8125298 55750 A4D1U5;E9PC15;E9PG39;F8WDD1;Q53H12 ABBA01034104;ABBA01034105;ABBA01034106;ABBA01034107;ABBA01034108;AC004918;AC073878;AC099547;AJ278150;AK001704;AK222769;AK299131;AK304502;AMYH02016920;AMYH02016921;AMYH02016922;AX877343;BC009775;BC022777;CH236950;CH471070;DB032353;NG_032079;NM_018238;XM_005250021;XM_005250023 AAH09775;AAH22777;AAS07537;AAS07538;BAA91848;BAD96489;BAG61184;BAG65310;CAB93536;CAE89682;EAL24020;EAW83972;EAW83973;NP_060708;Q53H12;XP_005250078;XP_005250080 Hs.743318 1672232;1679636;1786378;2121441;2128066;2144660 D7S1627;D7S2726;G31090;RH45804;RH80969;SHGC-171949 CATC5;CTRCT38;FLJ10842;MTDPS10;MULK;hAGK;hsMuLK OTTHUMP00000212223;OTTHUMP00000212224;OTTHUMP00000212226;acylglycerol kinase, mitochondrial;multi-substrate lipid kinase;multiple substrate lipid kinase APPROVED protein-coding HGNC:21869 08554 212350;610345;614691 REVIEWED 2794508 AGKP1 acylglycerol kinase pseudogene 1 X Y Y q11.21 3736898 3739138 + 16750954 16753194 + 14639074 14641314 + 12815422;9847074 359793 ABBA01056972;AC010979;NG_002810;NG_028212 AGKY1 pseudo HGNC:37661 INFERRED 1346834 AGMX2 agammaglobulinemia, X-linked 2 (with growth hormone deficiency) ASSOCIATED WITH Agammaglobulinemia, X-linked, type 2 (inferred) 7240710 179 HGNC:323 300310 1318183 AGMAT agmatine ureohydrolase (agmatinase) ENCODES a protein that exhibits agmatinase activity (inferred); metal ion binding (inferred); INVOLVED IN agmatine biosynthetic process (inferred); cellular nitrogen compound metabolic process (inferred); polyamine metabolic process (inferred); PARTICIPATES IN arginine and proline metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; copper(2+) sulfate 1 1 1 p36.21 14382018 14394470 - 15898194 15911605 - 15571699 15585110 - 1580863;6480464;6907045;8554872 11804860;11914032;12477932;14648699;14702039;15028567;15489334;16341674;16511187;16710414;19322201;20379614;20563878;20808825;20877624;21803059;22939629;23740519;8125298;9758718 79814 Q9BSE5 ABBA01004706;ABBA01004707;AK130034;AK225366;AL121992;AMYH02000362;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 AUH;FLJ23384 OTTHUMP00000002467;agmatinase, mitochondrial protein-coding HGNC:18407 12436 VALIDATED 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 1 p21 98570515 98644447 + 100315633 100389579 + 99850077 99924023 + 1566516;1331525;1598779;1598784;1601129;1642741;1642743;2304191;6480464;6907045;7240710;8554872;8699517 11766064;15118671;15180797;16705713;6449198;807434;8755644;9281456 10571954;10925384;10982190;11378828;11924557;12477932;1374391;14718574;1505983;15489334;15833157;15886229;17047887;17908927;17915576;18029348;18781797;18924225;19299494;19754354;19834502;20158661;20301788;20379614;20562859;20648714;20800603;21145461;21697133;21890473;21906983;21963094;22035446;22053931;22424883;22863883;22939629;2295969;23218918;23649758;23882694;24257475;24337577;24639526;24816145;8702417;8954797;8990006;933239;9332391;9412782;9490286;9691087 178 P35573 AB035443;AB208867;AB621804;ABBA01045447;ABBA01045448;AC096949;AK130308;AMYH02001550;AMYH02001551;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;XM_005270557 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;XP_005270614 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 HGNC:321 01984 232400;610860 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 - 15239943 15601640 - 15200318 15562015 - 6480464;8554872 12477932;12690205;20081858;20419449;20571754;20613766;20643956;22220568;22399527;23251661;24722188 392636 H0Y3V1;H7C0E0;Q6ZNB7;X5D773 ABBA01056614;ABBA01056615;ABBA01056616;ABBA01056617;ABBA01056618;ABBA01056619;ABBA01056620;ABBA01056621;ABBA01056622;ABBA01056623;AC004452;AC012061;AC091789;AC099412;AC099651;AK131284;AMYH02015281;AMYH02015282;AMYH02015283;AMYH02015284;AMYH02015285;AMYH02015286;BC108676;CH236948;CH471073;KF458385;KJ534765;NM_001004320;XM_006715730;XM_006715731 AAI08677;AHW56405;BAD18458;EAL24290;EAL24291;EAW93665;NP_001004320;Q6ZNB7;XP_006715793;XP_006715794 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;glyceryl-ether monooxygenase;transmembrane protein 195 APPROVED protein-coding ENSG00000187546 HGNC:33784 13362 613738 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 1 p34.3 34623239 34664327 + 36335412 36395211 + 35883209 35929610 + 1580863;4144862;6480464;8554872 20484662 10512872;10534406;12230974;12414724;12477932;12526743;12906857;14702039;15152257;15489334;15908945;15937477;16196087;16710414;16756390;16936726;16936728;17267406;17400507;17482383;17891150;17932509;18345015;18482256;18771919;18779327;19047128;19138993;19167051;19269368;19380743;19383768;19393748;19470757;19716330;19723326;19767416;19851984;19913121;19946268;20211803;20308539;20628086;20671708;20721975;20732906;20819778;21145461;21846468;21906983;21948796;21963094;21988832;22025453;22231398;22474261;22647351;22858679;22961379;23019594;23426184;23665583;23696926;23746446;23748378;23809764;24086155;24250222;24457600;24778252;24816145;25036637;9417904 26523 Q5TA58;Q9UL18 ABBA01023323;ABBA01023324;ABBA01023325;ABBA01023326;ABBA01023327;AF093097;AK000326;AK001622;AK002003;AK025726;AK027611;AK125879;AK314148;AL139286;AMYH02000772;AMYH02000773;BC063275;CH471059;CR936823;NM_012199;U92986;XM_006710575 AAF00068;AAH63275;BAG36835;BAG50952;EAX07396;NP_036331;Q9UL18;XP_006710638 Hs.22867;Hs.656677 1660836;1700796;1745923;1771522;1771524;2114457;2121075;2217296 A006G35;EIF2C1_617;G20793;G64298;L18179;RH104023;SHGC-74590;SHGC-74594 DKFZp686M13167;EIF2C;EIF2C1;GERP95;Q99;eIF-2C 1;eIF2C 1;hAgo1 Golgi Endoplasmic Reticulum protein 95 kDa;OTTHUMP00000008518;OTTHUMP00000008519;argonaute 1;argonaute1;eukaryotic translation initiation factor 2C, 1;protein argonaute-1;putative RNA-binding protein Q99 APPROVED protein-coding HGNC:3262 06942 606228 REVIEWED 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 6 p21.3 33703030 33712935 - 32135983 32145888 - 32168206 32178111 - 1580863;6480464;6907045 11487472;12477932;14574404;14656967;14702039;15231747;15489334;16341674;16344560;16571775;16870193;17707131;19143821;19322201;19851445;19946888;22359512;22797925;23088713;23362303;23535732;23824909;24250222;8619474;8944226;9110174;9212163;9291118;9450025;9461603 10554 B3KPH3;Q99943;Q9HBM8 ABBA01038108;AF007145;AF218034;AI193422;AK056346;AK058025;AK129818;AK299252;AK315950;AL662828;AL662884;AL845464;AMYH02013469;BC002402;BC003007;BC004310;BC006818;BC090849;BM763275;BX284686;BX927239;CH471081;CR812478;CR933878;DA529681;DB118884;NM_006411;NM_032741;U56417;U75971;U89336;XM_005248805;XM_005248806;XM_005272761;XM_005272762;XM_005274829;XM_005274830;XM_005275073;XM_005275074;XM_005275203;XM_005275204;XM_005275337;XM_005275338;XM_005275504;XM_005275505;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;XP_005248862;XP_005248863;XP_005272818;XP_005272819;XP_005274886;XP_005274887;XP_005275130;XP_005275131;XP_005275260;XP_005275261;XP_005275394;XP_005275395;XP_005275561;XP_005275562 Hs.409230 1675331;2124218;2136027;2191639 D6S1154E;D6S1412;MARC_31849-31850:1068218042:1;RH91426 1-AGPAT 1;1-AGPAT1;G15;MGC4007;MGC5423 1-AGP acyltransferase 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);LPAAT-alpha;LPAATA;OTTHUMP00000029298;OTTHUMP00000029299;OTTHUMP00000029300;OTTHUMP00000029301;OTTHUMP00000029302;OTTHUMP00000174886;lysophosphatidic acid acyltransferase alpha;lysophospholipid acyltransferase APPROVED protein-coding ENSG00000204310 HGNC:324 04372 603099 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 8 q24 137710380 137814765 - 141541264 141645646 - 140531165 140635547 - 1580863;4144862;6480464;8554872 20484662 10534406;11914277;12230974;12414724;12477932;12526743;12906857;14749716;14970384;15284456;15489334;15800637;15908945;15937477;15973356;16196087;16301602;16357216;16424907;16611939;16699599;16756390;16936728;17116888;17267406;17382880;17400507;17495927;17524464;17531811;17671087;17881374;17891150;17932509;17938239;18178619;18222171;18476811;18591665;18669659;18690212;18771919;18787018;18946079;18981691;19047128;19061863;19064005;19138993;19159466;19167051;19322201;19324964;19380743;19383768;19393748;19458189;19470757;19508234;19536157;19560422;19625255;19647520;19716330;19723326;19784364;19801630;19820710;19838187;19851984;19946268;19946888;20020773;20146808;20197313;20198652;20211803;20237157;20308539;20385818;20395958;20402672;20505670;20671708;20696395;20699384;20721975;20924207;21071408;21139048;21145461;21148147;21177824;21241449;21383194;21423624;21535412;21552258;21562054;21634124;21769619;21840310;21846468;21868483;21903422;21906983;21948796;21951848;21963094;21964070;21969601;21988832;22014067;22025453;22055194;22163034;22215596;22233755;22366686;22394132;22474261;22539551;22647351;22682761;22791714;22851315;22858679;22961379;23019594;23077538;23091627;23143396;23201202;23245472;23258480;23289589;23400010;23411422;23443559;23512276;23603119;23636329;23664376;23665583;23696368;23696926;23741051;23748378;23763827;23775134;23824327;23877830;23901138;23926332;24023945;24086155;24209750;24263100;24326307;24361012;24457600;24602972;24654937;24778252;24816145;24886719;25036637 27161 A4FVC0;E5RGG9;E5RJY2;Q9UKV8 AA909234;ABBA01013673;ABBA01013674;AC067931;AC107375;AF121255;AI468419;AMYH02018885;AMYH02018886;AMYH02018887;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;PPD;Q10;eIF-2C 2;eIF2C 2;hAgo2 OTTHUMP00000226229;OTTHUMP00000226251;PAZ Piwi domain protein;argonaute 2;argonaute2;eukaryotic translation initiation factor 2C, 2;protein argonaute-2;protein slicer APPROVED protein-coding ENSG00000123908 HGNC:3263 06943 606229 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 + 36396364 36522360 + 35930763 36056759 + 4144862;6480464 20484662 10997877;12414724;12477932;12526743;12906857;14702039;16196087;18187620;18771919;19167051;19383768;19393748;19470757;19946888;21145461;21634124;21906983;21963094;21988832;22474261;23064648;23665583;23748378;24778252 192669 B4E1P5;Q5TA56;Q9H9G7 AA251146;ABBA01023319;ABBA01023320;ABBA01023321;ABBA01023322;ABBA01023323;AK022827;AK027796;AK292870;AK302289;AK303929;AL138787;AL139286;AMYH02000773;AMYH02000774;AMYH02000775;BC025769;BC066888;BC144409;BF438817;BF979526;BX104163;CH471059;NM_024852;NM_177422;XM_005270575;XM_005270576;XM_006710404 AAH66888;AAI56435;AAI72480;BAB14262;BAB55374;BAF85559;BAG63629;BAG64857;EAX07394;EAX07395;NP_079128;NP_803171;Q9H9G7;XP_005270632;XP_005270633;XP_006710467 Hs.657659 1697882;1754811;2147155;2151124 RH102469;SHGC-141728;SHGC-74570;SHGC-74579 EIF2C3;FLJ12765;MGC86946;eIF-2C 3;eIF2C 3;hAgo3 OTTHUMP00000008758;OTTHUMP00000008759;argonaute 3;argonaute3;argonaute3 {ECO:0000255|HAMAP-Rule:MF_03032};eIF-2C 3 {ECO:0000255|HAMAP-Rule:MF_03032};eIF2C 3 {ECO:0000255|HAMAP-Rule:MF_03032};eukaryotic translation initiation factor 2C 3 {ECO:0000255|HAMAP-Rule:MF_03032};eukaryotic translation initiation factor 2C, 3;protein argonaute-3 APPROVED protein-coding ENSG00000126070 HGNC:18421 09558 607355 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 + 36273231 36323491 + 35807630 35857890 + 1580863;4144862;6480464 20484662 10997877;11329013;12414724;12477932;12526743;12906857;16094384;18771919;19167051;19383768;19393748;19470757;19946888;20146808;21832049;21906983;23748378;24778252 192670 Q9HCK5 AB046787;ABBA01023328;ABBA01023329;ABBA01023330;AK000040;AL354864;AL359186;AL831908;AMYH02000770;BC152450;BG186585;CA419947;CH471059;NM_017629;XM_005270578;XM_005270579;XR_246243;XR_246244 AAI52451;AAI60021;BAA90899;BAB13393;EAX07398;EAX07399;EAX07400;NP_060099;Q9HCK5;XP_005270635;XP_005270636 Hs.744858 1657682;1690562;1774857;2123559;5022322;5093290 A009K46;AL010009;D11S2560;G32631;RH80595;SHGC-74548 EIF2C4;eIF-2C 4;eIF2C 4;hAgo4 OTTHUMP00000004431;argonaute 4;argonaute4;eukaryotic translation initiation factor 2C, 4;protein argonaute-4 APPROVED protein-coding ENSG00000134698 HGNC:18424 09559 607356 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 9 q34.3 110081330 110095564 - 139567595 139581911 - 136673143 136687459 - 1580863;1598407;1598785;6480464;6907045;7240710;8554872;8699517 11967537 10487716;12477932;14602785;15028826;15146197;15181077;15489334;15629135;15841084;16435205;16870193;18155601;18698612;19226263;19278620;20301391;21152068;21176343;21873652;21890473;21906983;21963094;21987572;21988832;22872237;22902344;23578572;24205284;8944226;9212163;9242711;9291118;9461603 10555 O15120;Q96IS9 ABBA01022716;AF000237;AF011374;AL590226;AMYH02021906;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-AGPAT 2;1-AGPAT2;BSCL;BSCL1;LPAAT-beta 1-AGP acyltransferase 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);LPAAB;OTTHUMP00000022595;OTTHUMP00000022596;lysophosphatidic acid acyltransferase beta;lysophosphatidic acid acyltransferase-beta APPROVED protein-coding ENSG00000169692 HGNC:325 04373 603100;608594 REVIEWED 1348313 AGPAT4-IT1 AGPAT4 intronic transcript 1 (non-protein coding) ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; benzene; copper(2+) sulfate 6 6 6 q26 162310546 162312414 - 161581146 161583014 - 161160114 161161982 - 6480464;8554872 11230166;12477932;14574404;14702039;15489334 79992 Q9H0P7 ABBA01015150;AK026765;AL136708;AMYH02014891;BC101668;BC112291;CH471051;NR_024277 BAB15545;CAB66643;EAW47584;Q9H0P7 Hs.664873 5493127 UniSTS:484386 C6orf59;FLJ23112;NCRNA00241 APPROVED ncrna HGNC: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 + 45285116 45407475 + 43865149 43987594 + 1580863;6480464;6907045 11487472;12107412;12477932;12975309;14702039;15367102;15489334;16620771;16780588;17207965;19635840;19946888;20379614;20537980;21173190;21829377;21832049;21890473;21906983 56894 C9J184;C9JK35;C9JL26;C9JQX8;Q9NRZ7 AB001523;AB040138;ABBA01074146;ABBA01074147;ABBA01074148;ABBA01074149;ABBA01074150;ABBA01074151;AF156774;AF156775;AK026135;AK074300;AK125804;AK300562;AL109795;AL355720;AL355721;AL832919;AMYH02037902;AMYH02037903;AP001053;AP001054;AY358704;BC004219;BC004413;BC011971;BC013167;BC026047;BC040603;BC063552;BM083518;BM476336;CD672915;CH471079;KF457334;NM_001037553;NM_020132;XM_005261159;XM_005261160;XM_006724029;XM_006724030;XM_006724031;XM_006724032 AAF80336;AAF80337;AAH11971;AAH40603;AAH63552;AAQ89067;ADQ31993;BAB18943;BAB85042;BAC86299;BAG62268;CAD38635;EAX09461;EAX09462;EAX09463;EAX09464;EAX09465;NP_001032642;NP_064517;Q9NRZ7;XP_005261216;XP_005261217;XP_006724092;XP_006724093;XP_006724094;XP_006724095 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 HGNC:326 10637 614794 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 - 161551057 161695107 - 161130025 161274075 - 1580863;6480464;6907045;8554872 11487472;12477932;12975309;14574404;15367102;15489334;17207965;17474147;20379614;21906983;24047446;9828130 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;AMYH02014890;AMYH02014891;AX119047;AY358506;BC013410;BC020209;BQ072907;CH471051;CR627395;KF458354;NM_020133;XM_005267052;XM_005267053;XM_005267054;XM_005267055;XM_006715512;XM_006715513;XM_006715514;XM_006715515 AAF80338;AAH13410;AAH20209;AAQ88870;ADQ32161;BAG58081;BAG58454;BAG58643;BAG60008;BAG61621;CAC38597;CAH10489;EAW47577;EAW47578;EAW47579;EAW47580;EAW47581;EAW47582;EAW47583;NP_064518;Q9NRZ5;XP_005267109;XP_005267110;XP_005267111;XP_005267112;XP_006715575;XP_006715576;XP_006715577;XP_006715578 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 HGNC:20885 12437 614795 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 + 41435702 41482520 + 41578188 41625001 + 6480464;6907045;8554872 12477932;12938015;12975309;15489334;16625827;16713569;18238778;20181984;21906983;21988832;8944226 137964 E5RGW3;E5RHA6;E5RIA1;Q2TU73;Q86UL3 ABBA01021135;AC009630;AF317516;AF406612;AL834255;AMYH02017881;AMYH02017882;AY358670;AY513610;BC051377;BC061884;BU620295;CH471080;DB470455;GM839075;NM_178819;XM_005273403 AAG33063;AAH51377;AAH61884;AAP21893;AAQ89033;AAS82774;CAD38930;CAT16184;EAW63253;EAW63254;EAW63255;NP_848934;Q86UL3;XP_005273460 Hs.355753 1655098;1680130;1707066;1718565;1854001 A004O41;RH122486;RH93524;SHGC-81288;STS-H81989 1-AGPAT 6;DKFZp586M1819;GPAT4;LPAAT-zeta;TSARG7 1-AGP acyltransferase 6;1-acyl-sn-glycerol-3-phosphate acyltransferase zeta;1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta);LPAATZ;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 HGNC:20880 12175 608143 VALIDATED 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 + 84456886 84527028 + 83535733 83605875 + 6480464;6907045;8554872 12477932;12975309;14702039;15221005;16341674;16344560;17002884;17170135;19322201;20181984;21139048;21310131;21890473;21906983;22985252;23251661;24816145;8125298 84803 Q53EU6 AB075872;ABBA01063465;ABBA01063466;AC021192;AC096768;AK055749;AK223543;AMYH02009621;AMYH02009622;AMYH02009623;AMYH02009624;AY358100;BC006236;BC073136;BC090956;BM841009;CH471057;DA393801;DA673378;DQ324782;DQ345298;GM839137;HI574350;NM_001256421;NM_001256422;NM_032717;XM_005263314 AAH73136;AAH90956;AAQ88467;ABC55674;ABC70186;BAB71002;BAD38654;BAD97263;CAT16202;CBX47664;EAX05944;EAX05945;EAX05946;NP_001243350;NP_001243351;NP_116106;Q53EU6;XP_005263371 Hs.99196 1688967;2110559 MGC11324__7665;RH92406 1-AGPAT 9;AGPAT 10;AGPAT8;GPAT-3;GPAT3;HMFN0839;LPAAT-theta;MAG-1;MAG1;MGC11324;hGPAT3 1-AGP acyltransferase 9;1-acyl-sn-glycerol-3-phosphate O-acyltransferase 10;1-acyl-sn-glycerol-3-phosphate O-acyltransferase 9;1-acylglycerol-3-phosphate O-acyltransferase 8;OTTHUMP00000160987;OTTHUMP00000160988;acyl-CoA:glycerol-3-phosphate acyltransferase 3;endoplasmic reticulum associated GPAT;glycerol-3-phosphate acyltransferase 3;lung cancer metastasis-associated protein 1;lysophosphatidic acid acyltransferase theta;lysophosphatidic acid acyltransferase, theta APPROVED protein-coding ENSG00000138678 HGNC:28157 14417 610958 VALIDATED 3077880 AGPAT5P1 1-acylglycerol-3-phosphate O-acyltransferase 5 pseudogene 1 Y Y Y p11.2 2263 3254 - 3161849 3162850 + 3293808 3294809 + 646231 ABBA01069784;AC006152;NG_028688 5023047 sY3020 pseudo HGNC:37709 INFERRED 1348196 AGS1 Aicardi-Goutieres syndrome 1 ASSOCIATED WITH Aicardi-Goutieres syndrome (inferred); Chilblain lupus (inferred); Lupus Erythematosus, Systemic (inferred) 7240710 10827106 27003 HGNC:332 152700;192315;225750;610448 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 2 q31.2 171860003 172011409 + 178257471 178408564 + 177392743 177543836 + 1300366;1598794;1580863;6480464;7240710;8554872;8699517 7407223;9553082 10215861;10384985;10415121;10553003;10683770;11152660;11330037;12477932;1495418;16756494;17601746;18029348;18571506;19946888;20379614;20562859;20877624;20972266;21139048;21525035;21890473;21987572;21990100;22002062;22190034;22939629;23752268;23980144;24147044;24244333;2464339;24654937;24816145;25027693;3646870;4031664;7807941;8125298;9187299;9266692 8540 B7Z3Q4;B8ZZ81;O00116 AA832354;ABBA01062237;ABBA01062238;AC016762;AC019080;AC073834;AK296239;AK309714;AK314259;AK316240;AL359559;AMYH02005314;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;ADPS;DKFZp762O2215;FLJ99755 ADHAPS;ALDHPSY;OTTHUMP00000163353;aging-associated gene 5 protein;aging-associated protein 5;alkyl-DHAP synthase;alkyldihydroxyacetonephosphate synthase, peroxisomal;alkylglycerone-phosphate synthase APPROVED protein-coding ENSG00000018510 HGNC:327 04337 600121;603051 REVIEWED 1312142 AGR2 anterior gradient 2 ENCODES a protein that exhibits dystroglycan binding; INVOLVED IN mucus secretion (ortholog); ASSOCIATED WITH Breast Neoplasms; Carcinoma in Situ; Carcinoma, Pancreatic Ductal; FOUND IN endoplasmic reticulum (ortholog); INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-5alpha-androstan-3-one; 2,3,7,8-tetrachlorodibenzodioxine 7 7 7 p21.3 16812569 16825043 - 16831437 16844738 - 16791813 16805114 - 2325658;2325659;2325661;6480464 16598187;19609859;19714807 10965104;12477932;12592373;12690205;12853948;12975309;15340161;15489334;15834940;15935701;16169070;16189514;16222343;16551856;16713569;17255364;17457305;17694278;18029348;18801625;18829536;18973922;19359471;19834055;20048076;20299546;20403997;20525245;20525379;20550709;20706999;20877624;20888340;20945500;21144054;21151833;21200134;21281432;21454516;21768879;21832049;21948970;22025610;22072305;22147918;22184114;22231555;22430137;22467239;22521076;22659167;22748473;22752467;22828706;22911164;22945649;22945652;23220234;23348903;23382691;23386860;23402259;23438482;23648065;23834814;24177142;24490732;24794000;24960290;8125298;9790916 10551 B5MC07;C9J3E2;H7C3Z9;O95994;Q4JM46;Q4JM47 ABBA01056635;AC073333;AF007791;AF038451;AF038452;AF087879;AF088867;AF115926;AK223067;AK296721;AK312942;AMYH02015307;AX231601;AY359009;BC015503;BF680655;BT007048;CH236948;CH471073;CS488906;DQ070893;FJ224307;NM_006408;XM_005249581 AAC77358;AAC82614;AAF22484;AAH15503;AAL54870;AAP22354;AAP35697;AAP97179;AAQ89368;AAY84773;AAY84774;AAY84775;AAY84776;ABM81571;ABM84751;ACI45999;BAD96787;BAG35784;BAG59310;CAC69703;CAM55980;EAL24283;EAW93682;EAW93683;NP_006399;O95994;XP_005249638 Hs.530009 2121127 GDB:1318074 AG-2;AG2;GOB-4;HAG-2;HEL-S-116;HPC8;PDIA17;XAG-2 OTTHUMP00000116014;OTTHUMP00000201755;OTTHUMP00000201757;anterior gradient 2 homolog;anterior gradient 2 homolog (xenopus laevis);anterior gradient homolog 2;anterior gradient protein 2 homolog;epididymis secretory protein Li 116;protein disulfide isomerase family A, member 17;secreted cement gland homolog;secreted cement gland protein XAG-2 homolog APPROVED protein-coding ENSG00000106541 HGNC:328 05896 606358 VALIDATED 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. A pseudogene of this gene is present on the Y chromosome. [provided by RefSeq, Aug 2014] 8 8 8 p23.1 6543403 6596547 + 6565878 6619024 + 6708357 6761503 + 1580863;6480464 11076863;11230166;11256614;11487472;12477932;14702039;15367102;15489334;15489336;16341674;16381901;16620771;17549794;19322201;20379614;20877624;21173190;21890473;21906983;21963094;23000965;24250222;24816145 55326 E5RH21;H0YAW1;H0YC22;Q9NUQ2 ABBA01007056;AF287957;AF375789;AK002072;AK021722;AK310545;AL136587;AL514578;AMYH02017290;BC023550;BC068519;BC080537;BM837881;CA414711;CH471153;CQ834440;CQ834528;KC877208;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 1-AGPAT 5;1AGPAT5 1-AGP acyltransferase 5;1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon;1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon);LPAATE;OTTHUMP00000224507;lysophosphatidic acid acyltransferase epsilon APPROVED protein-coding HGNC:20886 12438 614796 REVIEWED 1350354 AGS2 Aicardi-Goutieres syndrome 2 ASSOCIATED WITH Aicardi-Goutieres syndrome (inferred); Alagille Syndrome (inferred); Hajdu-Cheney Syndrome (inferred) 7240710 497264 HGNC:31917 102500;610181;610205 1346339 AGTBP angiotensin binding protein 184 HGNC:334 736333 AGRP agouti related neuropeptide 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 16 q22 52024676 52025918 - 67516474 67517716 - 67482571 67483813 - 1625232;1331525;1300272;1625233;1580863;1357925;2314000;2311538;2314004;6480464;6484113;7240710 11179781;11344185;11554767;12213871;15054840;15118671;15189116;18001323 10318826;10366820;10371151;11196643;11326303;11487744;11602360;11747427;12056887;12153462;12477932;12815165;15121772;15489334;15546902;15597110;15927146;15978665;16130030;16280444;16314751;16320160;16568137;16820227;16904835;17041250;17180153;17197106;19058789;19077438;19285986;19602223;19770186;19942238;20164781;20404050;20468064;21531082;22477065;22492775;23118421;9119224;9311920;9354787;9724530;9751529;9892020;9893984 181 C6SUN5;O00253 ABBA01025438;AC009061;AF281309;AF314194;AMYH02032232;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 homolog;agouti-related protein 2289478 SLEP18_H APPROVED protein-coding ENSG00000159723 HGNC: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 1 p36.33 1597136 1631462 - 955503 991499 + 1020123 1056119 + 6480464;6907045;7240710;8549508;8699517;8554872 23032192 12070669;12073527;12270958;12477932;1326608;14702039;15146197;15340048;15691710;15694127;16037493;16106752;16487930;1659950;16713569;17170699;17628813;17640714;18025246;1851019;19166823;19194276;19199708;19598235;19631309;19940118;20301347;20471664;21078624;21139048;22205389;22307776;22423096;23000965;23443559;8205617;8617505;9151673;9405491;9417121;9652404 375790 H0Y5U1;O00468 AB191264;ABBA01016009;ABBA01016010;ABBA01016011;AF016903;AJ309206;AK021586;AK125197;AK128761;AL645608;AMYH02000074;AMYH02000075;AMYH02000076;AMYH02000077;AW119098;AW204172;BC004220;BC007649;BC034009;BC063620;BC084578;BE383214;BF569502;BF740118;BQ892267;CH471183;CK000983;CN314674;CN314678;NG_016346;NM_198576;S44195;U84406;XM_005244749;XM_006710633;XM_006710634;XM_006710635;XM_006710636;XM_006710637 AAB23327;AAB52917;AAC39776;AAH04220;AAH07649;AAH34009;AAH63620;AAH84578;BAD52440;BAG51039;CAC42508;EAW56293;NP_940978;O00468;XP_005244806;XP_006710696;XP_006710697;XP_006710698;XP_006710699;XP_006710700 Hs.273330;Hs.602356 CMSPPD;FLJ45064 OTTHUMP00000038465;agrin proteoglycan APPROVED protein-coding ENSG00000188157 HGNC:329 10550 103320;254300;615120 REVIEWED 1604981 AGR3 anterior gradient 3 ENCODES a protein that exhibits dystroglycan binding; FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; carmustine; coumestrol 7 7 7 p21.1 16879344 16901918 - 16899030 16921613 - 16859406 16881989 - 6480464 12477722;12477932;12592373;12690205;12975309;15340161;15489334;15935701;20219921;21451362;21988832;22361111;23386860;24747240;8889548 155465 B5MC62;H7C040;Q8TD06 ABBA01056636;AC098592;AMYH02015308;AX231609;AY069977;AY359065;BC058284;BG540617;BM984550;BU682778;CB242846;CH236948;CH471073;NM_176813;XM_005249627 AAH58284;AAL55402;AAQ89424;CAC69704;EAL24282;EAW93685;NP_789783;Q8TD06;XP_005249684 Hs.100686 5123716 RH66426 AG-3;AG3;BCMP11;HAG3;PDIA18;hAG-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 HGNC: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 - 88161454 88356944 - 85546539 85742029 - 6480464;8554872 10470851;11083920;11884758;12477932;14702039;15302935;15385968;16713569;17043677;21139048;21890473;23242554 23287 B4DHX2;Q5VZW3;Q5VZW6;Q9UPW5 AB028958;ABBA01034038;ABBA01034039;ABBA01034040;ABBA01034041;AJ420433;AJ437018;AK001544;AK022562;AK023280;AK024698;AK295304;AK295774;AK299506;AL157882;AL451131;AL833359;AMYH02021144;AMYH02021145;BC060815;BX648366;CA449535;CH471089;DC334722;NM_001286715;NM_001286717;NM_015239;XM_005251847;XM_005251848;XM_005251849 AAH60815;BAA82987;BAA91749;BAB14100;BAB14505;BAG58284;BAG58598;BAG61460;CAD24587;CAH56158;CAH56222;EAW62694;EAW62695;EAW62696;EAW62697;EAW62698;EAW62699;NP_001273644;NP_001273646;NP_056054;Q9UPW5;XP_005251904;XP_005251905;XP_005251906 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 HGNC:17258 08442 606830 VALIDATED 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 2 q37.3 235480100 235491174 + 241808162 241818536 + 240868745 240879119 + 1302510;1300367;1300048;1580863;6480464;6907045;7240710;8554872;8699517 2039493;8101040 10394939;10453743;10862087;10960483;11085934;11562405;12169688;12477932;12777626;12899834;1301173;1349575;15253729;15327387;15365967;15802217;15849466;15911627;15956068;15961951;16169070;16712791;16912707;16971151;1703535;17110443;17460142;17495019;17696873;18289107;18448374;18468259;18492492;18782763;19155213;19451220;19479957;1961759;19887726;20016466;20020206;20056599;20059472;20133649;20178365;20208150;20301460;20308030;2045108;20462248;20713123;20734048;20877624;21103899;21612638;21988832;22018727;22198249;22201765;22529745;2253628;23229545;23589421;2363689;23810941;23956997;24012869;24055001;24205397;24344980;3418107;3709805;7813517;8034295;8507692;8906307;9053548;9192270 189 P21549;Q9UJX1 AA857309;AB292648;ABBA01006034;AC104809;AF191687;AF348451;AK292754;AK298400;AK298420;AK315331;AK316495;AMYH02006102;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 HGNC:341 05048 259900;604285 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 X q22-q23 115832555 115836822 - 115301958 115306225 + 116170705 116174972 + 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;8549482;8549486;7401256 10024874;10977869;11295571;11819209;11916627;11924718;12089373;12089445;12172324;12187255;12495295;14657020;14982483;15153562;15158138;15470205;15793237;15930094;16133060;16380540;16725227;18158356;18327089;18328310;18463192;18500976;18565281;18768398;19080339;19139720;19212419;19246705;19680135;2;20042458;20149750;20631980;21040717;21102591;21189405;21303825;21357516;21900645;21963897;22113494;22120037;22184331;22357959;22569153;22920387;22949090;7477267;9815151 10406457;10710290;11053482;11055978;11081769;11153734;11200871;11324803;11446495;11459796;11544438;11709400;11733189;11819093;11880254;12133421;12453540;12464615;12477932;12522467;12531525;12544508;12579398;12660887;12746399;12800945;12881481;12911547;12924622;12925562;14598163;14627490;14764974;14987254;15013293;15013322;15013333;15117835;15123239;15123577;15123706;15221785;15385810;15458433;15489334;1550596;15638358;15710780;15772651;15914614;16080803;16109806;16112405;16283672;16289034;16344560;16395664;16522324;16550310;16598200;16609364;16944335;16954165;17000928;17159079;17159080;17160213;17261659;17270098;17336987;17393691;17433630;17499413;17515833;17522061;17548686;17620959;17630322;17653210;17707359;17944121;18049304;18059164;18188697;18205097;18240029;18254975;18296263;18331441;18344519;18404604;18417209;18437528;18488444;18534055;18577758;18594540;18660489;18848837;19023273;19074439;19074441;19082699;19155782;19194560;19274051;19288324;19308748;19344625;19357319;19397700;19404281;19509012;19524223;19578796;19628789;19716087;19759061;19779016;19781541;19820429;19861345;19861347;19861349;19861351;19861352;19861353;19913121;19948975;19959718;19959996;19996275;20181281;20237496;20300066;20304486;20371166;20467270;20486282;20592051;20606419;20628086;20714875;20732682;20837730;20844184;21163866;21436209;21602797;21671168;21740964;21850060;21937042;22162314;22407459;22710646;22869520;22987376;23122839;23176211;23255326;23406015;24385301;24391821;24440243;24674681;24917146;2834384;7477266;7719706;7733925;7790004;7945336;7999093;8185599;8502225;8552595;8663053;8957548;9099917;9884335 186 AAB34100;P50052;Q6UVH2 ABBA01049276;ABBA01049277;AI911273;AK313927;AL732602;AMYH02040296;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 HGNC:338 02071 300034 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 1 p36.22 10908147 10923614 + 11796142 11810828 + 11736085 11750771 + 2314353;2314351;6480464 17875818;18725581 10358057;11162453;11733189;12107413;12477932;12960423;14559250;14985364;15489334;15668245;15757644;16189514;16710414;18029348;19060904;19430483;19805740;19913121;20018811;20541774;20628086;21139048;21423001;21728994;23902639;24722188 57085 D6RB40;D6RBK6;Q6RW13;X6R9H3 ABBA01003057;ABBA01003058;AF165187;AF312374;AI741916;AK290042;AL953897;AMYH02000300;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 MGC29646 AT1 receptor-associated protein;ATI receptor-associated protein;ATRAP;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 HGNC:13539 16379 608729 REVIEWED 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 3 q24 146826000 146871131 + 148415658 148460790 + 148697871 148743003 + 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;8548869;8548866;8549482;8548894;8548897;8548891;8549458;8549486;8548895;8548864;7364969;6903855;8554872;8699517 10639182;10977869;10994756;11100981;11295571;11451295;11819209;11877468;12077487;12089373;12172324;12446719;12476891;12495295;12832734;12975417;14559250;14982483;15118671;15153562;15612584;15930094;16061119;16105049;16109907;16116425;16141358;16519598;16565309;16725227;16796846;17211857;17877756;18421211;18451329;18500976;18829859;19080339;19332265;2;20042458;20080265;20560294;20621762;20723410;20886512;21040717;21078800;21102591;21282555;21303825;21319597;21326341;21346625;21357516;21367774;21963897;22089474;22120037;23487168;23828384;7724593;8181542;9287353;9456365;9466969;9622148;9857918 10510297;10972591;10993080;11079515;11081769;11082147;11085286;11106322;11110972;11122322;11136175;11137090;11152457;11158334;11208365;11213892;11226259;11246471;11250978;11279203;11288810;11289708;11317203;11324803;11330506;11336183;11341749;11354780;11355019;11359462;11444146;11484170;11531970;11575217;11577832;11579203;11593098;11682489;11687736;11688760;11689223;11692158;11696658;11696688;11707217;11707686;11709400;11709801;11711524;11733189;11752456;11774217;11775887;11776100;11793101;11793845;11798574;11799082;11852019;11865575;11881039;11882570;11903322;11909563;11910300;11910301;11913624;11923700;11924723;11926202;11938025;11967817;11999641;12006574;12031955;12034692;12045255;12048678;12095411;12117739;12127057;12133421;12133518;12187084;12358135;12390711;12394950;12425365;12436935;12446192;12446598;12450401;12454231;12460700;12473660;12477932;12482634;12511523;12513040;12514663;12522132;12522467;12534336;12544439;12544508;12556231;12579398;12579405;12591176;12593997;12597535;12624609;12627871;12627873;12631360;12660887;12694873;12694874;12695419;12716844;12728975;12747597;12778448;12842881;12860335;12865608;12891302;12897464;12898858;12904590;12925562;12932862;12950120;12960024;1378723;14502296;14508191;14521778;14529856;14530292;14569094;14597852;14610337;14627489;14654250;14657020;14730619;14749533;14764974;14765837;14767013;14987254;14997233;15013293;15013322;15013333;15017542;15031629;15042429;15045574;15062885;15080371;1508224;15097234;15108186;15117835;15126556;15130920;15153745;15193870;15193960;15196067;15212666;15221785;15238568;15269283;15295089;15326089;15332573;15353577;15355986;15364762;15376229;15385810;1543512;15452107;15452121;15454732;15458433;15480097;15480098;15492474;15496309;15498133;15498791;15498833;15504143;15505642;1550596;15543360;15545271;15545843;15563875;15580058;15590451;15611106;15628301;15635042;15662219;15673342;1567413;15676177;15683714;15694792;15718424;15718497;15743363;15775779;15785027;15797649;15824464;15848528;15863668;15890659;15905345;15914614;15923814;15934435;15946912;15949885;16006956;16012192;16047641;16076618;16088850;16108768;16109085;16109807;16112405;16152821;16188060;16189286;16231503;16271939;16274774;16276415;16294326;16314886;16339777;16344560;16364240;16369102;16384824;16395664;16396964;16398146;16434990;16468060;16492203;16498788;16504375;16521052;16522324;16525943;16525944;16530863;16550310;16565729;16603315;16609364;16611642;16615274;16636899;16651460;16672053;16684954;16685579;16691016;16736244;16741369;16741935;16754659;16775386;16787961;16790149;16805920;16823505;16831865;1683828;16876684;16893516;16911325;16923768;16954165;16998258;17008309;17024648;17051401;17069818;17097490;17118372;17118790;17118791;17143591;17146658;17159080;17160213;17165166;17166941;17173513;17190732;17207964;17211247;17220293;17223428;17227479;17229913;17256744;17261659;17270098;17274465;17285438;17293603;17298481;17299793;17325239;17326392;17327458;17334527;17336987;17375465;17378368;17393691;17399955;17429042;17433630;17446269;17446655;17486447;17487826;17499413;17519002;17520398;17522061;17524880;17541127;17546276;17557241;17569300;17586411;17586781;17595257;17617024;17668390;17702963;17703434;17710578;17719203;17725712;17726226;17728799;17785770;17851694;17903694;17914507;17921131;17921431;17921816;17984617;17988266;17992634;17993594;18006496;18026817;18059164;18069999;18088317;18091746;18158351;18172057;18188697;18202720;18205094;18231736;18239157;18239384;18240029;18245065;18260840;18261537;18296263;18308844;18328310;18331441;18347611;18348177;18364271;18413189;18413222;18413308;18414380;18417209;18432064;18434621;18446309;18464745;18464932;18475152;18488444;18491423;18497458;18513389;18534055;18550062;18550936;18551012;18563171;18565507;18575418;18577758;18594050;18594540;18612202;18622242;18633425;18637188;18641512;18660489;18676046;18679149;18698212;18700314;18703536;18719072;18767410;18787507;18787943;18800139;18830250;18855530;18856058;18927546;18953568;18971559;18974842;18985387;19014923;19017652;19021695;19023134;19023273;19026696;19040540;19056482;19057513;19059460;19064815;19067809;19082699;19086053;19102886;19108684;19110485;19112833;19131662;19145770;19162241;19162259;19166692;19178574;19185300;19218102;19236533;19238444;19242491;19245071;19247266;19253715;19254215;19263529;19274051;19274077;19276075;19282863;19286758;19286759;19288324;19302184;19304510;19308748;19309260;19327134;19330904;19341158;19397700;19408837;19418628;19420105;19424575;19461648;19463113;19479237;19487683;19503013;19509012;19520069;19524223;19546528;19559392;19578796;19587357;19593696;19620885;19635801;19680137;19681973;19696781;19706169;19713412;19716087;19729965;19752885;19755917;19779016;19779330;19779464;19782519;19811349;19833117;19853701;19913121;19929134;19940150;19948975;19954723;19956635;19997001;20026870;20027122;20066125;20108069;20118823;20137558;20142115;20161734;20181817;20223791;20223792;20300066;20302034;20304486;20308035;20351714;20361261;20452482;20458733;20465154;20478903;20486282;20525211;20536507;20537417;20537563;20558762;20559404;20563831;20565774;20570668;20577119;20580725;20594303;20602615;20606419;20628086;20659024;20667857;20673868;20703234;20708651;20714875;20731749;20732682;20816596;20824505;20837730;20838438;20851291;20854100;20854388;20856803;20861505;20864943;20943774;20945417;20966899;20975235;20978160;21052031;21086617;21152433;21162207;21163122;21173159;21176342;21223556;21234519;21234654;21316998;21330421;21332426;21412239;21436209;21449976;21463477;21502318;21525005;21570644;21596033;21600887;21607620;21628354;21633717;21636204;21638051;21641389;21670585;21671168;21740964;21771600;21791198;21808598;21846682;21856918;21937042;21970881;21986569;22021115;22147663;22237156;22282354;22291018;22297600;22323719;22362742;22387727;22392878;22407459;22433249;22475523;22484478;22555639;22561363;22569962;22581182;22590832;22613986;22645060;22647632;22703619;22719026;22758920;22782431;22939041;23081748;23145508;23176211;23210602;23223579;23273598;23326349;23386604;23389452;23451270;23480300;23480670;23484035;23505107;23536940;23564192;23567951;23585396;23592774;23603059;23615648;23681235;23694962;23700157;23745680;23755207;23783021;23880184;23902432;23942655;23971628;24015270;24020479;24055489;24068433;24093454;24145933;24167376;24202179;24214591;24218433;24244341;24255721;24385301;24400721;24627317;24654435;24692224;24727057;24815690;24875414;7491117;7746328;7792812;7980575;8021009;8135787;8166699;8185574;8662816;8753867;9074770;9211925;9468203;9516477;9606715;9766385 185 D3DNG8;P30556;Q53YY0;Q6NUP5 ABBA01058952;AC024897;AF245699;AI016286;AI240900;AK291541;AMYH02007877;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 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 HGNC: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. [provided by RefSeq, Jul 2008] 1 1 1 q42.2 204104291 204116358 - 230838269 230850336 - 230702523 230714590 - 1581742;1582435;1581938;1566491;1566492;1582118;1581847;1300394;1582152;1582124;1582105;1582434;1331525;1300393;1300273;1601142;1601141;1601132;1580863;1566511;1601130;1601134;1601135;1601136;1601138;1601139;1601140;1601143;1566452;5129185;5129160;5129176;5129195;5129162;5129167;5129180;5129191;5129198;5129174;5129175;1358275;5129166;6480464;6907045;7240710;8549470;8548889;8548866;8549466;8548863;8548860;8548892;8549469;8549482;8548893;8548894;8548902;8549465;8548900;8548901;8549476;8548862;8548897;8549480;8548861;8548870;8548874;8549458;8549461;8549467;8549486;8548895;8548871;8548872;8548868;8548885;8142344;7401256;8548898;8548886;8554872;8699517 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183 B0ZBE2;B2R5S1;P01019 AB209769;ABBA01033026;AK222798;AK222815;AK293507;AK303755;AK307978;AK312291;AL158214;AL512328;AMYH02002881;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 HGNC:333 00106 106150;145500;267430 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 - 34998206 35048293 - 34998101 35048188 - 1580863;6480464;6907045;8554872 12477932;14702039;15240345;15342556;15956068;16344560;20018850;20877624;21572414;21931564;21988832;23023372;24159190;7592550;8125298 64902 Q9BYV1 AB193309;ABBA01039261;AC010368;AJ292204;AK055732;AK055757;AK223128;AK223144;AK223375;AK296109;AK314691;AMYH02011154;AMYH02011155;BC144268;BC150603;BP277413;CH471119;DA633665;KC876957;NM_031900;XM_005248337;XM_005248338;XM_005248340 AAI44269;AAI50604;AAI56125;AAI56920;BAD66662;BAD96848;BAD97095;BAG37242;BAG51563;BAG51568;BAH12259;CAC24841;EAW55912;NP_114106;Q9BYV1;XP_005248394;XP_005248395;XP_005248397 Hs.34494 1686997;1751383;1778058;2120132;2156050;2160971 D5S2573;RH17937;RH78189;RH99171;SGC33361;SHGC-105268 AGT2;beta-ALAAT II (R)-3-amino-2-methylpropionate--pyruvate transaminase;DAIBAT;OTTHUMP00000115997;OTTHUMP00000221043;alanine--glyoxylate aminotransferase 2, mitochondrial;beta-alanine-pyruvate aminotransferase APPROVED protein-coding ENSG00000113492 HGNC:14412 10638 612471 REVIEWED 7207657 AHCYP1 adenosylhomocysteinase pseudogene 1 10 10 10 q11.22 42701899 42703173 - 47594379 47595653 + 46223143 46224417 + 340844 ABBA01033529;AL450388;AMYH02022869;NG_022175 pseudo HGNC:44993 INFERRED 7205519 AHCYP2 adenosylhomocysteinase pseudogene 2 9 9 9 q33.2 94131222 94132512 + 123482951 123484241 + 120720673 120721963 + 392387 ABBA01016245;AL138836;AMYH02021571;NG_021677 pseudo HGNC:44994 INFERRED 1605826 AHCTF1P1 AT hook containing transcription factor 1 pseudogene 1 2 2 2 q24.2 155965950 155974538 - 162355578 162364413 - 161499067 161507902 - 14702039;21963094 285116 Q96M44 ABBA01004887;AC009487;AK057394;AMYH02005089;NR_077058 BAB71468 Hs.470435 1676802 RH26330 AHCTF1P;ELYS-like APPROVED pseudo HGNC:24620 VALIDATED 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 20 q11.22 29617551 29649079 - 32868071 32899608 - 34280265 34311802 - 1598896;1598897;1300368;1598898;730275;1601153;1580863;1300048;6480464;6907045;7242932;7240710;7242425;7242426;8699517;8554872 11123369;11575573;11741948;12208805;15024124;16815886;20814827;2292587;23073625 10933798;11780052;12063172;12069606;12369977;12477932;12590576;14702039;15161933;15241484;15489334;16196087;16344560;17081065;17097637;17164794;17172447;17353931;17447732;17688412;17892301;18211827;18393535;18427977;18522500;18635682;18683034;18713839;18769049;18781797;18978678;19048631;19056867;19135240;19161160;19619139;19683694;19913121;20308539;20360068;20391533;20392501;20458436;20615890;20628086;20634891;21044950;21081666;21110914;21139048;21145461;21319273;21853274;21890473;21906983;21963094;21987572;21988832;22023331;22190034;22268729;22304920;22323290;22505724;22863883;22939629;23000965;23079506;24163370;24337577;24654937;24816145;25027693;2574561;2596825;309884;6580258;6586634;7079734;715439;7608178;7786017;9586999 191 P23526 ABBA01019205;ABBA01019206;AK097610;AK290422;AK300014;AK309204;AK316180;AL356299;AMYH02036970;AMYH02036971;BC010018;BC011606;BC114924;BE785593;BT006697;CH471077;DB043400;DC301059;DC413105;KF456881;KF456885;M61831;M61832;NG_012630;NM_000687;NM_001161766;XM_005260316;XM_005260317 AAA51681;AAA51682;AAH10018;AAH11606;AAI14925;AAP35343;ABM82627;ABM84656;ABM86323;ABM92186;BAF83111;BAG53495;BAG61829;BAH14551;EAW76279;EAW76280;EAW76281;NP_000678;NP_001155238;P23526;XP_005260373;XP_005260374 Hs.388004 1654636;1695036;1854331;2109027;2125055;5117174 AHCY__4267;D20S1115;G44732;GDB:451613;STS-M61832;STS-R64115 SAHH OTTHUMP00000030684;S-adenosyl-L-homocysteine hydrolase;S-adenosylhomocysteine hydrolase;adoHcyase APPROVED protein-coding ENSG00000101444 HGNC:343 01621 180960;613752 REVIEWED 1603679 AHCTF1 AT hook containing transcription factor 1 ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN nuclear pore complex assembly; ASSOCIATED WITH Melanoma (inferred); FOUND IN chromatin; condensed chromosome kinetochore; extracellular vesicular exosome; INTERACTS WITH arsane; arsenic atom; atrazine 1 1 1 q44 220298863 220391306 - 247002400 247094726 - 246839098 246931978 - 6480464;8554872 11952839;12477932;14702039;15489334;16565220;16964243;17081983;17098863;18029348;18854154;19056867;19454010;19471022;19596686;20360068;21890473;21906983;21963094;22412018;22505724;22555603;22586326;22955883;23000965;24457600 25909 C9J5C5;H7C4S1;Q8WYP5 AB059277;ABBA01031773;ABBA01031774;AC113174;AF173978;AK091364;AK091510;AK095398;AK122844;AL080144;AL832213;AL833491;AMYH02003125;AMYH02003126;AY157619;BC012307;BC030564;BC047361;CH471148;NM_015446;XM_006711758;XM_006711759;XR_426916 AAH12307;AAI56055;AAN65622;AAQ13621;BAB78516;BAG52342;BAG53044;BAG53757;CAB45737;EAW77165;EAW77166;EAW77167;EAW77168;NP_056261;Q8WYP5;XP_006711821;XP_006711822 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;putative AT-hook-containing transcription factor 1 protein-coding ENSG00000153207 HGNC:24618 09935 610853 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 1 p13.2 108774307 108813363 + 110527387 110566364 + 109984765 110023742 + 1580863;6480464;6907045 10070969;11904675;12477932;12525476;12878157;15489334;15951569;16710414;16754674;16769890;19019082;19220705;19322201;19615732;20584908;21139048;21242704;21317537;21906983;21956116;21963094;22012331;22190034;22505724;22826361;22863883;22939629;22990118;23431199;23455922;23602568;23667531;23769829;24035498;24518248;24816145;7782076;8619474;9110174 10768 O43865;Q9UI76 AA427939;AA865152;ABBA01068385;AF035319;AF090905;AF315687;AK131563;AK303690;AK308080;AK313392;AK316110;AL049954;AL772411;AMYH02001718;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;PPP1R78;PRO0233 DC-expressed AHCY-like molecule;IRBIT;OTTHUMP00000013376;OTTHUMP00000013377;S-adenosyl homocysteine hydrolase homolog;S-adenosyl-L-homocysteine hydrolase 2;S-adenosylhomocysteine hydrolase-like 1;S-adenosylhomocysteine hydrolase-like protein 1;XPVKONA;adoHcyase 2;dendritic cell expressed AHCY-like protein;inositol 1,4,5-trisphosphate receptor-binding protein;putative adenosylhomocysteinase 2 APPROVED protein-coding ENSG00000168710 HGNC:344 07613 607826 REVIEWED 7207589 AHCYP3 adenosylhomocysteinase pseudogene 3 2 2 2 q12.1 99212660 99213937 - 105011461 105012738 - 104395003 104396280 - 402093 ABBA01073881;AC068535;AMYH02004458;NG_021515 pseudo HGNC:44995 INFERRED 7205585 AHCYP6 adenosylhomocysteinase pseudogene 6 11 11 11 q14 82877417 82878708 + 85568044 85570200 + 85857001 85859157 + 100419714 ABBA01017332;AP000974;NG_024541 pseudo HGNC:44998 INFERRED 7205584 AHCYP4 adenosylhomocysteinase pseudogene 4 2 2 2 q22.1 133370593 133371904 - 139659006 139660317 - 138901436 138902747 - 129560 ABBA01028117;AC023468;AMYH02004878;NG_021526 pseudo HGNC:44996 INFERRED 7205587 AHCYP7 adenosylhomocysteinase pseudogene 7 15 15 15 q21.2 27602135 27603436 + 50709580 50710881 + 50417383 50418684 + 645486 ABBA01039113;AC012170;AMYH02030403;NG_022129 1668555;1697408;1770867;1851542;1853907;2114737;2170006;7183682 D15S1088;D15S1309;D15S957;D15S960;RH102204;RH78221;SHGC-57070 pseudo HGNC:44999 INFERRED 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 + 128864855 129070052 + 129225014 129430211 + 6480464;6907045;8554872 10048485;12477932;15489334;16344560;16865262;19615732;20694014;21139048;21906983;21963094;22190034;22228203;22505724;22890011;23455922;23602568 23382 C9JZV7;C9K0S0;H0Y8B3;Q96HN2 AB020635;ABBA01057635;ABBA01057636;ABBA01057637;ABBA01057638;ABBA01057639;ABBA01057640;ABBA01057641;AC009244;AC011005;AC083866;AC093149;AK025372;AK295851;AK316073;AMYH02016730;AMYH02016731;AMYH02016732;BC008349;BC024325;BG700017;CH236950;CH471070;DA429263;DA890615;NG_029180;NM_001130720;NM_001130722;NM_001130723;NM_015328;XM_005250237 AAH08349;AAH24325;BAA74851;BAG58657;BAH14444;EAW83716;EAW83717;NP_001124192;NP_001124194;NP_001124195;NP_056143;Q96HN2;XP_005250294 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 HGNC:22204 11113 REVIEWED 7205583 AHCYP5 adenosylhomocysteinase pseudogene 5 2 2 2 q32.3 190203118 190204356 - 196447517 196448755 - 195582793 195584031 - 391470 ABBA01062446;AC064834;AMYH02005499;NG_021544 pseudo HGNC:44997 INFERRED 1349401 AHDS Allan-Herndon-Dudley syndrome 193 HGNC:345 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 7 p15 17318278 17365781 + 17338276 17385775 + 17298652 17346151 + 1580863;1300278;1300277;634668;2325664;6480464 10639156;12107286;12203118;12586752 10048154;10395741;10428779;10471301;10497241;10620335;10644764;10739168;10903152;10986286;10999956;11013261;11032419;11114727;11207035;11259606;11259609;11259615;11393538;11408954;11425848;11505220;11689007;11698344;11742002;11756572;11768231;11782478;11805098;11835227;11866883;12024042;12065584;12139968;12181450;12200463;12213388;12213390;12215427;12237327;12477932;12480531;12520072;12566446;12592376;12597446;12612060;12637498;12690205;12730383;12774124;12837759;12852830;12853948;12917420;14550747;14560034;14634838;14973392;14978034;14985336;15026081;15069065;15123621;15190133;15342792;15474075;15489334;15499202;15572374;15641800;15681594;15728486;15758562;15774926;15837795;15863442;15897893;15917307;15964790;16084889;16091746;16103451;16109480;16153594;16257957;16337337;16403814;16480812;16481407;16538170;16582008;16619036;16675542;16762319;16891617;16922649;16952353;16985026;16985033;17053541;17140257;17174437;17200336;17209571;17223712;17244640;17311112;17392787;17429315;17490615;17498780;17502624;17511620;17552871;17559847;17596880;17642299;17823287;17823304;17900530;17963696;18029348;18037991;18059014;18065768;18259752;18302886;18303622;18358233;18359762;18433817;18483242;18510611;18515748;18524851;18628420;18632753;18636124;18676680;18677463;18708059;18708364;18818557;18923163;18990750;19013013;19018768;19027718;19034627;19114668;19138996;19158084;19170196;19255421;19333233;19340314;19356061;19356098;19358281;19360915;19371443;19380484;19390533;19415745;19447902;19460354;19463884;19465936;19535631;19536146;19538249;19556287;19574409;19592671;19625176;19651607;19690180;19692168;19726680;19736056;19755661;19789301;19815066;19821039;19917880;19941898;20000589;20032195;20044593;20053997;20064835;20130088;20140206;20146706;20171126;20237496;20301892;20354149;20395535;20401977;20453000;20460431;20511231;20619336;20634891;20676092;20709182;20804740;20823264;20878756;20973933;21072210;21081473;21205295;21262915;21316925;21357676;21374063;21441140;21462134;21486221;21490707;21600206;21613234;21627536;21640702;21689841;21693764;21742528;21804081;21828262;21878739;21886157;21906983;21963094;21976023;21987572;21988832;21996739;22052373;22053597;22071320;22123295;22138065;22235307;22273977;22296396;22311706;22361730;22388733;22486318;22495716;22495806;22539616;22553215;22596188;22628113;22649193;22728919;22754483;22759865;22761424;22840970;22854411;22903824;22915253;23022626;23030067;23037589;23141164;23208493;23228475;23229511;23288144;23317198;23370907;23382382;23419638;23430108;23439269;23452206;23492908;23528250;23547017;23583297;23604401;23614276;23614742;23636172;23703535;23723449;23733406;23768840;23802610;23810773;23831623;23846855;23915234;23994556;24023334;24078229;24086407;24091107;24106308;24154488;24161567;24302727;24309559;24316275;24330582;24355420;24380854;24481452;24549985;24721719;24769090;24938130;7488247;7515333;7550366;7566098;7628454;7716743;7883760;7961644;7961671;8074712;8125016;8246913;8384309;8393992;8794892;9079689;9083006;9111057;9170146;9446600;9704006;9712901;9759704;9787404;9837941;9887096;9972449 196 P35869 AA329775;ABBA01056640;AC003075;AK307495;AMYH02015311;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;class E basic helix-loop-helix protein 76 APPROVED protein-coding ENSG00000106546 HGNC:348 02596 600253 VALIDATED 1603658 AHDC1 AT hook, DNA binding motif, containing 1 This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014] 1 1 1 p36.13 26256416 26325804 - 27860756 27930463 - 27534245 27603952 - 6480464;8699517;7240710;8554872 12477932;15146197;16713569;20562864;21139048;21282530;21832049;22558309;24791903;8619474;9110174 27245 Q5TGY3 ABBA01034979;ABBA01034980;ABBA01034981;ABBA01034982;ABBA01034983;AK125431;AL031729;AMYH02000602;BC002677;BC014394;BC064935;BM989685;CH471059;CN371147;NG_034158;NM_001029882;U79259;XM_005245848;XM_005245849;XM_005245850;XM_005245851;XM_005245852;XM_005245853 AAB50205;AAH02677;AAH14394;AAI52908;BAC86163;EAX07751;EAX07752;NP_001025053;Q5TGY3;XP_005245905;XP_005245906;XP_005245907;XP_005245908;XP_005245909;XP_005245910 Hs.469280 1648409;1671424;1692666;1733086;5092898 A009C01;AL034084;D1S1421;G32400;SHGC-33185 CL23945;DJ159A19.3;MRD25;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 HGNC:25230 10885 615790;615829 REVIEWED 1345625 AHNAK AHNAK nucleoprotein ENCODES a protein that exhibits poly(A) RNA binding; S100 protein binding; structural molecule activity conferring elasticity (ortholog); INVOLVED IN regulation of voltage-gated calcium channel activity; protein oligomerization (ortholog); regulation of RNA splicing (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN actin cytoskeleton; cell-cell contact zone; cytoplasm; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 5-aza-2'-deoxycytidine 11 11 11 q12.2 59530422 59643724 - 62201014 62314332 - 62433542 62546860 - 1580863;6480464;8554872 10737800;11312263;11535620;11746675;12153988;12477932;14625392;14699089;14702039;15001564;15033986;15177040;15607035;16009940;1608957;16319140;16417406;16582619;16712791;16984913;17185750;17207965;17255364;17897319;18334579;19056867;19380743;19394292;19471022;19596686;19738201;19805454;19946888;20020773;20029029;20360068;21044950;21139048;21182205;21319273;21890473;21906983;21940993;21963094;21987572;22057634;22304920;22586326;22863883;22937058;22939629;22940583;23000965;23144326;23182705;23275167;23409183;24253341;24332808;24583282;24654937;24960163;25015289;25027693;7789175;7987395 79026 B4DTV0;E9PJC6;E9PJZ0;E9PKR9;E9PLK4;E9PQE3;Q09666;Q9BVU3 ABBA01003224;ABBA01003225;ABBA01003226;ABBA01003227;ABBA01003228;AK091153;AK095346;AK128868;AK300376;AMYH02024889;AMYH02024890;AMYH02024891;AMYH02024892;AMYH02024893;AP001363;AP003064;BC000926;BC012477;BC017483;BC128460;BE873999;BF094607;BF761997;BQ448690;CB129722;CH471076;CN482151;KC877424;KC877431;M80899;M80902;NM_001620;NM_024060;X74818;XM_005274240;XM_005274241;XM_005274242;XM_005274243;XM_005274244;XM_005274245;XM_005274246;XM_006718686;XM_006718687;XM_006718688 AAA69898;AAA69899;AAH00926;AAH12477;AAI28461;ADQ32850;ADZ15763;BAC03596;BAC87652;BAG62112;CAA52817;EAW74019;NP_001611;NP_076965;Q09666;XP_005274297;XP_005274298;XP_005274299;XP_005274300;XP_005274301;XP_005274302;XP_005274303;XP_006718749;XP_006718750;XP_006718751 Hs.502756 1656978;1736158;1850617;1855179;1856398;2153100 AHNAK;D11S2237E;RH17740;RH46547;RH66240;SHGC-15247 MGC5395 AHNAK-related;AHNAKRS;OTTHUMP00000236155;OTTHUMP00000236448;OTTHUMP00000236450;OTTHUMP00000236451;ahnak nucleoprotein (desmoyokin);desmoyokin;neuroblast differentiation-associated protein AHNAK protein-coding ENSG00000124942 HGNC:347 14684 103390 VALIDATED 1346562 AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) ENCODES a protein that exhibits ATPase activator activity; chaperone binding; INVOLVED IN positive regulation of ATPase activity; FOUND IN cytoplasm; extracellular vesicular exosome; INTERACTS WITH 4-phenylbutyric acid; celastrol; copper(2+) sulfate 14 14 14 q24 57962942 57974371 + 77924373 77935815 + 77458030 77469472 + 1580863;6480464 10931946;11042152;11554768;12477932;12504007;12508121;12604615;15489334;16696853;17110338;17353931;18029348;18556464;19056867;19875381;20029029;20089831;20159553;20226818;21110914;21139048;21145461;21419342;21832049;21890473;21906983;22268729;22315411;22504172;22727666;22859491;22863883;22939629;23000965;24451373;24816145;25027693;25036637 10598 G3V3W9;G3V438;H0YJ63;H0YJG6;H0YJG7;H0YJU2;O95433 ABBA01030647;AF111168;AF161440;AF164791;AJ243310;AK300766;AK313824;AMYH02029571;AMYH02029572;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 HGNC:1189 09768 608466 VALIDATED 1316203 AHSA2 AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast) ENCODES a protein that exhibits ATPase activator activity (inferred); chaperone binding (inferred); INVOLVED IN positive regulation of ATPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 2 2 2 p15 61249018 61259145 + 61404553 61415240 + 61177420 61191203 + 6480464;8554872 12477932;12504007;12604615;14702039;14739935;15570572;20190752;23128233 130872 B8ZZA7;Q719I0 AA856729;ABBA01075349;AC016747;AF542548;AI636364;AK091998;AK092505;AK092817;AK123709;AL833813;AMYH02003920;BC030998;BC050395;BC063789;BC113671;BC117278;CH471053;NM_152392;XM_006711943;XM_006711944;XM_006711945 AAI13672;AAI17279;AAQ09531;AAY14686;ADR82832;BAG52613;CAD38676;EAX00002;EAX00003;EAX00004;EAX00005;EAX00006;EAX00007;EAX00008;EAX00009;NP_689605;Q719I0;XP_006712006;XP_006712007;XP_006712008 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 HGNC:20437 16479 VALIDATED 1320178 AHNAK2 AHNAK nucleoprotein 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; plasma membrane; costamere (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 14 14 14 q32.33 85457805 85498909 - 105403590 105444694 - 104937253 104978357 - 6480464;8554872 12477932;14702039;15007166;17185750;21139048;21906983;22863883;22939629;23000965;24390342 113146 Q8IVF2 AB095939;ABBA01008850;AK094143;AK095704;AK126472;AL512802;AL834367;AMYH02029958;BC004283;BC011859;BC033372;BC049216;BC090889;BC144467;BX537923;BX538040;BX538106;BX538133;NM_138420;XM_005267299 AAH11859;AAH33372;AAH49216;AAH90889;BAC23115;CAD39030;CAD97904;CAD97981;CAD98019;CAD98034;NP_612429;Q8IVF2;XP_005267356 Hs.441783 1689704;1776376;1850985;2139634 NIB978;RH75636;SGC34658;WI-3672 C14orf78;KIAA2019 OTTHUMP00000244370;chromosome 14 open reading frame 78 protein-coding ENSG00000185567 HGNC: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 6 q23.3 136345472 136559269 - 135604670 135818903 - 135283532 135497765 - 1598905;6480464;7240710;8554872;8699517 16155189 11076863;11230166;12186888;12477932;14574404;14702039;14751929;15060101;15169551;15322546;15467982;15489334;15489336;16240161;16381901;16453322;16773125;17409309;17473831;17668382;18054307;18227995;18633336;18782849;18785627;18936234;19191019;19322201;19342780;19379585;20045148;20071346;20301500;20301743;20371615;20379614;20452750;20580033;20683928;20805890;21068128;21833088;22123816;22183070;22285701;22623184;22745667;23028714;23171462;23446755;23532844;8125298 54806 E9PI51;E9PML3;H0Y343;H0YDL1;H0YE01;H0YEF1;Q8N157;Q8NER0;Q9NQN3 ABBA01025840;ABBA01025841;AI300295;AJ459824;AJ459825;AJ606362;AK000076;AK024085;AK092262;AK225210;AL023693;AL049552;AL133544;AL136797;AMYH02014546;AMYH02014547;AMYH02014548;AMYH02014549;AMYH02014550;AMYH02014551;AY133243;BC015019;BC029417;BC039559;BC050607;BC065712;BC094800;BX643029;CH471051;DQ090887;KF458299;NG_008643;NM_001134830;NM_001134831;NM_001134832;NM_017651;XM_005267039;XM_006715507;XR_427973 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;XP_005267096;XP_006715570 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 HGNC:21575 10597 608629;608894 REVIEWED 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 5 p15.3 402630 536558 + 304291 438406 + 304176 438291 + 6480464;8554872 10574462;1070014;11181995;11393538;11423533;11835227;12477932;12777964;14672759;14702039;15474075;15758562;16084889;16344560;16751776;17244640;17513317;17559847;17890447;17949687;17980155;18029348;18172554;18565642;18632753;18676680;19137073;19170196;19251700;19380484;19501819;19625176;20237496;20378615;20453000;21602797;21897333;22017422;22232023;22337624;22951721;22952704;23070629;23168330;23583445;23648678;23768840;8889548;9887096 57491 A9YTQ3;D6RE68;D6RF73;E5RFG4;E5RGQ2;E5RHE0;G3V143;H0YA43 AB033060;ABBA01034257;ABBA01034258;ABBA01034259;ABBA01034260;ABBA01034261;AC010442;AC118458;AF293629;AF293639;AK090508;AK127977;AK314472;AMYH02010747;AMYH02010748;AMYH02010749;AMYH02010750;AMYH02010751;BC035358;BC121047;BC121048;BC151852;BC152406;BM682431;BU738250;BX400426;CH471235;DA051156;DA863025;EU293605;KC876910;KF457843;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 HGNC:346 07356 606517 REVIEWED 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 3 q27 184767234 184775491 + 186330850 186339107 + 186613061 186621318 + 1625792;1625793;1625794;1580863;2313813;2313810;2313812;2313814;2313809;2313811;6480464;6484113;8554872 12153747;15698447;16567827;17011519;17062776;18316360;18633113;19029462;19228823 10550518;10947975;11415520;11439093;11788587;11922920;12071714;12140560;12203945;12207096;12477932;12556469;12642050;12665801;12725640;12754519;12773197;12914574;14667137;14718574;14760718;15174051;15489334;15589849;15592877;15599699;15806395;15882283;15917161;15931001;16002217;16024912;16046317;16113307;16117875;16318278;16335952;16502470;16567568;16740002;16898488;16968979;17010978;17116465;17207965;17303000;17318070;17474147;17557141;17611637;17702860;17851232;17882149;17889958;17960182;18065755;18085392;18089450;18281421;18286307;18334823;18335040;18337634;18364352;18612115;18624398;18728159;19016589;19031279;19056867;19110009;19151998;19194829;19358088;19453261;19478814;19602903;19615685;19672022;19681840;19857655;19857676;19862540;19896717;19910501;19913121;19931899;20015522;20019453;20031641;20091488;20150538;20199782;20299368;20360068;20374388;20379614;20436350;20453496;20496312;20501379;20533272;2054237;20543523;20546343;20575466;20576822;20605840;20628086;20660040;20713686;20806899;20926473;20929991;20946008;20956534;20963400;20964498;21085476;21103663;21123340;21253869;21310413;21383631;21521338;21521346;21543017;21613794;21659653;21804488;21893974;21904596;21953030;21958193;22024217;22079093;22101880;22115341;22170794;22196954;22304920;22377528;22387701;22425942;22489108;22511752;22546644;22554599;22619360;22685600;22703881;22815691;22820893;22855337;22939629;22980907;23024326;23056292;23066960;23109215;23190703;23231493;23418544;23433744;23439582;23577176;23600632;23627434;23719603;23758931;23765754;23795812;23801724;23811603;23852792;23907641;23925820;23933250;23943623;23961784;24088332;24140093;24143207;24165691;24332981;24366942;24487480;24618180;24654937;24969186;2645941;2760061;3356172;3474608;3924066;3944104;6803836;6833285;7736783;7906861;8940198;9003486;9322749 197 AAB29984;C9JV77;P02765 AB038689;ABBA01058388;AC068631;AK292751;AK298447;AK303754;AK312969;AMYH02008346;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;HSGA FETUA;OTTHUMP00000210158;OTTHUMP00000210159;alpha-2-Z-globulin;ba-alpha-2-glycoprotein;fetuin-A APPROVED protein-coding ENSG00000145192 HGNC:349 00727 138680 REVIEWED 1345176 AIED Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) ASSOCIATED WITH Aland Island Eye Disease (inferred); Cone-Rod Dystrophy, X-Linked, 3 (inferred); NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (inferred) 7240710 198 HGNC:351 300071;300476;300600 1315507 AHSP alpha hemoglobin stabilizing protein ENCODES a protein that exhibits hemoglobin binding (inferred); INVOLVED IN hemoglobin metabolic process (inferred); hemopoiesis (inferred); protein folding (inferred); INTERACTS WITH iron atom; iron(0); isotretinoin 16 16 16 p11.2 28768632 28769553 - 31539203 31540125 + 31527882 31528804 + 1580863;6480464 11042152;11231637;12066189;12192002;12477932;14667971;14715623;15220346;15489334;15550245;16169070;16186125;16189514;16339656;17192395;17194704;17874450;18166800;18179859;18347943;18676996;18704762;19349619;19482015;19706593;20036801;20371604;20627634;20815047;21232177;21988832;22079025;22145905;22298770;23264625;23333304;23696640 51327 H3BSK6;Q549J4;Q9NZD4 ABBA01042096;AC106730;AF112995;AF147435;AF208865;AF364517;AF485325;AMYH02031852;AY072612;BC035842;CH471192;H94920;NM_016633;XM_005255351;XM_005255352 AAF64279;AAH35842;AAK50856;AAL82894;AAO49381;AAP97228;ABM81851;ABM85002;EAW52118;NP_057717;Q9NZD4;XP_005255408;XP_005255409 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 HGNC:18075 12052 605821 VALIDATED 1354128 AIC Aicardi syndrome ASSOCIATED WITH Aicardi Syndrome (inferred) 7240710 192 HGNC:350 304050 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 6 p21.3 33181222 33183026 + 31582969 31584798 + 31615192 31617021 + 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;8554872 10683518;15710454;16150122;16340083;16500929;16635480;17035944;17158026;17178407;18186080;18204784;18301954;18585922;18931666;18987644;19010395;19020040;19053043;19070908;19084047;19246105;19447505;19520144;9391121 10202016;11500035;11557666;11943136;12477932;12559634;12714565;12887599;14574404;14656967;14756805;15117732;15489334;15784173;15922740;16049345;16291819;16868985;17010532;17011575;17073733;17498268;17522098;17533487;17907195;18341653;18699778;18721278;18787073;18816612;18835879;19079260;19204726;19745784;19851445;20237496;20587610;20662065;20850992;20855536;21040744;21168672;21509525;21720444;21890473;22106834;22116621;22225958;22505724;22560794;22936669;23221708;23547889;23563607;23777936;23867161;24018427;24337893;24796669;25026748;25036637;7769138;8499947;8629302;8912632;9614071 199 I3WTX1;P55008;Q4V347;Q5STX8 ABBA01038082;ABBA01038083;AF088038;AF129756;AF299327;AF299329;AK290771;AL662801;AL662847;AL805934;AMYH02013452;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;XM_005248869;XM_005248870;XM_005248871;XM_005272777;XM_005272778;XM_005272779;XM_005274923;XM_005274924;XM_005274925;XM_005275219;XM_005275220;XM_005275221;XM_005275355;XM_005275356;XM_005275357;XM_005275514;XM_005275515;XM_005275516;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;XP_005248926;XP_005248927;XP_005248928;XP_005272834;XP_005272835;XP_005272836;XP_005274980;XP_005274981;XP_005274982;XP_005275276;XP_005275277;XP_005275278;XP_005275412;XP_005275413;XP_005275414;XP_005275571;XP_005275572;XP_005275573 Hs.76364 1753991;1795334;2122325 AIF1_696.2;D6S1864;SHGC-132025 AIF-1;IBA1;IRT-1;IRT1 OTTHUMP00000029354;OTTHUMP00000029356;OTTHUMP00000029358;allograft inflammatory factor-1 splice variant Hara-1;interferon gamma responsive transcript;ionized calcium-binding adapter molecule 1;protein G1 APPROVED protein-coding ENSG00000204472 HGNC:352 03496 601833 REVIEWED 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 12 p13 10292343 10303027 - 8754762 8765463 - 8602166 8612846 - 1580863;1598906;6480464;6484113;6907045;7240710;8554872;8699517 11007475 10950930;11076863;11112359;11256614;11544457;11823785;12011459;12097915;12114543;12202747;12477932;12511417;12521993;12651944;12683974;12715918;12799424;12855567;12873980;12928399;12973929;14536088;14551145;14769937;14990977;15061213;15087440;15148397;15182647;15195091;15252444;15304391;15371439;15372234;15448152;15489334;15489336;15593119;15613101;15634916;15814733;15944282;15949042;16122802;16251902;16269615;16314506;16381901;16387847;16439679;16541139;16580072;16624806;16705187;16785531;16999936;17060445;17066440;17132718;17161027;17485517;17638864;17878393;18213388;18306229;18329947;18390709;18391550;18417471;18722174;18757891;18760480;18772346;18776814;18940926;19017972;19023113;19057669;19139166;19196959;19247692;19266080;19309412;19336552;19363484;19380635;19412186;19443686;19561087;19573080;19575287;19578742;19667096;19703021;19732723;19734146;19741596;19773279;19859091;19898425;19911124;19953087;19966806;20027182;20048284;20117026;20118283;20233972;20237496;20237507;20338830;20373075;20379614;20491788;20507984;20637757;20729863;20855884;20864035;20878190;20927319;20974684;21041454;21048031;21109971;21133730;21255825;21268017;21290192;21385873;21570118;21659520;21700883;21831295;21832049;21984922;22034886;22042974;22080610;22168746;22198384;22205734;22234692;22308462;22363466;22391874;22446380;22466889;22469133;22492685;22715099;22798497;22843687;22899287;22962683;22992148;23008333;23017209;23071276;23133680;23166356;23190037;23198547;23212122;23263985;23277564;23341589;23363221;23399385;23408445;23476051;23589568;23593411;23634222;23652018;23662991;23803409;23820005;23882083;23942124;24025329;24244169;24434356;24507160;24973444 57379 H0YFL3;H0YFP1;H0YGF6;Q546Y9;Q7Z599;Q9GZX7 AB040430;AB040431;AB092577;ABBA01012245;AC092184;AF529815;AF529816;AF529817;AF529818;AF529819;AF529820;AF529821;AF529822;AF529823;AF529824;AF529825;AF529826;AF529827;AJ577811;AMYH02025992;AY534975;AY536516;AY536517;AY541058;AY748364;BC006296;BT007402;BX402063;CH471116;CS056120;DQ431660;EU794587;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;ACJ13641;BAB12720;BAB12721;BAC66114;CAE12261;CAI75242;CAL38484;CBX87165;EAW88615;NP_065712;Q9GZX7 Hs.149342 1699712 RH103461 AID;ARP2;CDA2;HEL-S-284;HIGM2 OTTHUMP00000239182;OTTHUMP00000239185;OTTHUMP00000239186;cytidine aminohydrolase;epididymis secretory protein Li 284;integrated into Burkitt's lymphoma cell line Ramos;single-stranded DNA cytosine deaminase APPROVED protein-coding ENSG00000111732 HGNC:13203 05585 605257;605258 REVIEWED 1603969 AIDA axin interactor, dorsalization associated ENCODES a protein that exhibits protein domain specific binding (inferred); INVOLVED IN negative regulation of JUN kinase activity; dorsal/ventral pattern formation (ortholog); negative regulation of JNK cascade (ortholog); FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; disodium selenite 1 1 1 q41 196060430 196105032 - 222841355 222886602 - 222668013 222712522 - 6480464 12477932;14702039;16344560;17681137;21832049;21900206;8619474;9110174 64853 Q96BJ3 ABBA01048046;AF131838;AK022868;AK289865;AK301870;AL392172;AL592148;AL833718;AMYH02002750;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 HGNC:25761 07798 612375 VALIDATED 7205112 AIFM1P1 apoptosis-inducing factor, mitochondrion-associated, 1 pseudogene 1 10 10 10 p12.31 18710115 18713279 + 19024604 19027758 + 18735675 18738829 + 645120 ABBA01034534;AL512641;AMYH02022382;NG_021350 pseudo HGNC:44884 INFERRED 1604991 AIFM3 apoptosis-inducing factor, mitochondrion-associated, 3 ENCODES a protein that exhibits 2 iron, 2 sulfur cluster binding (inferred); flavin adenine dinucleotide binding (inferred); metal ion binding (inferred); INVOLVED IN execution phase of apoptosis; FOUND IN endoplasmic reticulum; mitochondrial inner membrane; mitochondrion; INTERACTS WITH copper(2+) sulfate; diazinon; trichostatin A 22 22 22 q11.21 4810763 4826996 + 21319418 21335649 + 20965130 20981360 + 6480464 12477932;14702039;15461802;15489334;15764604;15790807;16001080;16344560;18029348;18482256;19166416;20877624;21832049;22387901;22550867 150209 B7Z376;B7Z9S7;C9JPU8;C9K029;F8WC30;F8WFB6;Q96NN9 ABBA01015433;AC002470;AK055035;AK094844;AK126917;AK295581;AK316042;AMYH02038086;AY927574;AY927594;BC032485;BQ028401;CH471176;CR456342;DA396585;DB172173;KF457368;KF457369;KF510577;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 HGNC:26398 08085 VALIDATED 1348070 AIH2 amelogenesis imperfecta 2, hypocalcification (autosomal dominant) ASSOCIATED WITH Amelogenesis Imperfecta, Type IB (inferred); Amelogenesis Imperfecta, Type Ic (inferred) 7240710 200 HGNC:354 104500;204650 1312901 AIF1L allograft inflammatory factor 1-like ENCODES a protein that exhibits actin filament binding; FOUND IN actin cytoskeleton; actin filament; extracellular vesicular exosome; INTERACTS WITH acetylsalicylic acid; aflatoxin B1; all-trans-retinoic acid 9 9 9 q34.13-q34.3 104510955 104537611 + 133971863 133998539 + 131096476 131123152 + 737633;6480464 12477932 11076863;11230166;11256614;12975309;14702039;15164053;15489334;15489336;16344560;16381901;18699778;19056867;19322201;20237496;20360068;21890473;23824909;8889548 83543 A6PVM9;H7C605;Q5JUP1;Q5JUP3;Q9BQI0 ABBA01012077;ABBA01012078;AK022845;AK027181;AK057789;AK091912;AK128526;AK300473;AK314600;AL136566;AL157938;AL833896;AMYH02021779;AMYH02021780;AY359067;BC009826;BC021253;BI766795;BM975905;CH471090;DA285481;KF458943;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;ionized calcium binding adapter molecule 2;ionized calcium-binding adapter molecule 2 protein-coding ENSG00000126878 HGNC:28904 12967 VALIDATED 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 10 q22.1 65151142 65171802 - 71872023 71892832 - 70112267 70132934 - 1580863;6480464;8554872 10441517;11980907;12135761;12477932;14702039;14741744;15164054;15273740;15342556;15489334;15958387;17347867;17711848;19270026;20635389;20877624;21139048;21890473;21906983;22623531;23000965;23443559 84883 Q9BRQ8 ABBA01019617;ABBA01019618;ABBA01019619;AF337957;AF506757;AI922797;AK027403;AK127353;AL731540;AMYH02023280;AX879197;BC006121;BC023601;BG332787;BP331371;BX537621;CH471083;NM_001198696;NM_032797 AAH06121;AAH23601;AAL73229;AAM77596;ABM84018;ABM87363;BAB55089;BAG54492;CAE90404;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 (AIF)-like 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 HGNC:21411 09797 605159 REVIEWED 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 X q26.1 129649901 129686423 - 129263337 129299861 - 130129362 130165887 - 1580863;6480464;6484113;6907045;7240710;8699517;8554872 10744629;10913597;11193032;11279485;11533664;1202295;12022952;12198487;12404120;12477932;12535654;12629154;12668724;12930708;14585540;14716299;15033690;15182854;15286713;15316071;15489334;15526035;15703386;15729291;15772651;15775970;16049016;16133872;16169070;16344560;16365034;16511342;16628003;16644725;16713569;16729031;17094969;17107772;17110338;17148452;17347867;17352692;17353931;17471535;17492772;17560018;17603079;17709377;17822623;17967870;18056262;18306460;18309324;18593521;18781797;18806756;18821579;19064571;19197367;19380743;19418225;19578750;19598027;19669652;19723031;19723032;19765186;19781850;19913121;20000738;20177052;20228227;20301532;20360068;20362274;20450583;20450942;20628086;20706999;20972266;20974255;21075090;21113133;21139048;21145461;21182205;21206973;21293491;21343306;21415862;21616126;21732781;21822214;21875946;21890473;22019070;22103349;22133578;22134679;22268729;22328780;22371500;22438963;22688575;22839996;22939629;23077592;23118229;23125841;23217327;23398456;23438482;23443329;23455922;23515028;23673989;23682427;23752268;23798571;23824909;23874603;23955799;24040019;24244333;24247248;24250222;24337577;24413738;24434313;24434516;24457600;24583282;24654937;24816145;24889240;24914854;8619474;9110174;9206994;9892620;9989411 9131 E9PMA0;E9PMQ8;E9PRR0;O95831 ABBA01047894;ABBA01047895;ABBA01047896;ABBA01047897;ABBA01047898;ABBA01047899;AF100928;AF131759;AK000775;AK314446;AL049703;AL049704;AL139234;AMYH02040474;AMYH02040475;AMYH02040476;AY795556;AY795557;BC111065;BC139738;BM807180;CH471107;CR457379;DA624842;DB119488;DQ016496;DQ016498;DQ016500;KF459397;KF510638;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;CMT2D;CMTX4;COWCK;COXPD6;MGC111425;NADMR;NAMSD;PDCD8 Neuropathy, axonal motor-sensory, with deafness and mental retardation;OTTHUMP00000024007;OT